#version 2.4
## 
## Oncotator v1.0.0.0rc43 | GENCODE v18 | Flat File Reference hg19 | UniProt_AAxform 2011_09 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 134 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000Genome phase1 | UniProt_AA 2011_09 | ESP 6500SI-V2 | dbNSFP 2.0 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v18 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2011_09 | HumanDNARepairGenes 20110905 | HGNC Nov2013 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	t_alt_count	t_ref_count	n_alt_count	n_ref_count	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	call_BCGSC	call_BCM	call_BI	call_WU	call_UCSC	validation_judgement_wes	validation_power_wes	validation_tumor_alt_count_wes	validation_tumor_ref_count_wes	validation_normal_alt_count_wes	validation_normal_ref_count_wes	validation_judgement_rna	validation_power_rna	validation_tumor_alt_count_rna	validation_tumor_ref_count_rna	validation_normal_alt_count_rna	validation_normal_ref_count_rna	num_Centers
AJAP1	55966	broad.mit.edu	37	1	4772258	4772258	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:4772258G>A	ENST00000378191.4	+	2	709	c.328G>A	c.(328-330)Gcc>Acc	p.A110T	AJAP1_ENST00000378190.3_Missense_Mutation_p.A110T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	12	3	0	9	110					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	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)		CCAGGCGGCCGCCCTCGTGCC	0.736000													0	1	1	0	0	1	0.999968	12	3	0	9	0	0	0	0	0	9	2
HSPG2	3339	broad.mit.edu	37	1	22161313	22161313	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:22161313C>T	ENST00000374695.3	-	77	10658	c.10579G>A	c.(10579-10581)Ggg>Agg	p.G3527R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	35	41	0	54	3527	Ig-like C2-type 21.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		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)	CGCAGGTGCCCTCCAACTTTG	0.637000													1	1	1	0	1	1	1.000000	38	49	0	57	1	1	14	39	0	57	4
ZMYM6	9204	broad.mit.edu	37	1	35476601	35476601	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:35476601C>T	ENST00000357182.4	-	9	1326	c.1099G>A	c.(1099-1101)Gcg>Acg	p.A367T	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000487874.1_Missense_Mutation_p.A367T|ZMYM6_ENST00000373340.2_Missense_Mutation_p.A367T	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	20	43	0	61	367					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AGGGGCACCGCCGAAGAGTTT	0.458000													1	1	1	0	1	1	1.000000	23	48	0	67	1	5.259048e-01	2	3	0	67	4
HIVEP3	59269	broad.mit.edu	37	1	41984100	41984100	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:41984100C>G	ENST00000372584.1	-	6	6457	c.5443G>C	c.(5443-5445)Gtg>Ctg	p.V1815L	HIVEP3_ENST00000247584.5_Missense_Mutation_p.V1815L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.V1815L|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372583.1_Missense_Mutation_p.V1815L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	42	74	0	96	1815					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TCCTCCAGCACCCCTGTCTCT	0.522000													1	1	1	0	1	1	1.000000	50	86	0	106	0	0	0	1	0	106	4
CCDC30	728621	broad.mit.edu	37	1	43021941	43021941	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:43021941A>C	ENST00000428554.2	+	12	1683	c.540A>C	c.(538-540)aaA>aaC	p.K180N	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.K180N|CCDC30_ENST00000340612.4_Missense_Mutation_p.K180N			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	24	16	0	64	180										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAGATATGAAAGATGAAGAAA	0.443000													1	1	1	0	1	1	1.000000	28	17	0	65	1	3.856383e-01	2	0	0	65	4
SGIP1	84251	broad.mit.edu	37	1	67148015	67148015	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:67148015C>T	ENST00000371037.4	+	15	1355	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.P430P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	158	154	0	251	426	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			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTTCGTCCCCCGGACCTGGCT	0.562000													1	1	1	0	1	1	1.000000	176	185	0	275	0	0	0	0	0	275	4
ZBTB7B	51043	broad.mit.edu	37	1	154987608	154987608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:154987608C>T	ENST00000368426.3	+	3	609	c.472C>T	c.(472-474)Cga>Tga	p.R158*	ZBTB7B_ENST00000292176.2_Nonsense_Mutation_p.R158*|ZBTB7B_ENST00000535420.1_Nonsense_Mutation_p.R158*|ZBTB7B_ENST00000417934.2_Nonsense_Mutation_p.R192*|ZBTB7B_ENST00000487542.1_3'UTR	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	33	109	0	62	158					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	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)			TGACTGTGAGCGAGCCCGCCA	0.637000													1	0	1	0	1	1	1.000000	35	118	0	70	1	6.479546e-01	4	5	0	70	3
TTN	7273	broad.mit.edu	37	2	179597447	179597447	+	Splice_Site	SNP	T	T	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr2:179597447T>G	ENST00000589042.1	-	56	16567		c.e56-2		TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Splice_Site	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10	10	0	16								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGTGGTTCTGAAGAAGGGG	0.398000													0	1	1	0	1	1	0.999577	11	11	0	17	0	0	0	0	0	17	3
IRS1	3667	broad.mit.edu	37	2	227661386	227661386	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr2:227661386G>T	ENST00000305123.4	-	1	3089	c.2069C>A	c.(2068-2070)cCt>cAt	p.P690H		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	39	59	0	108	690					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			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		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)		GGTCCCGGAAGGGACGGCGTt	0.627000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	0	1	1	1.000000	40	65	0	109	1	9.846365e-01	8	6	0	109	4
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	37	4	0	26	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|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(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	0	1	1	1.000000	44	5	0	27	1	9.999952e-01	8	1	0	27	4
ECE2	9718	broad.mit.edu	37	3	183995214	183995214	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr3:183995214C>T	ENST00000402825.3	+	4	792	c.792C>T	c.(790-792)agC>agT	p.S264S	ECE2_ENST00000404464.3_Silent_p.S146S|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Silent_p.S117S|ECE2_ENST00000357474.5_Silent_p.S192S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	17	45	0	62	264	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			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTTCAACAGCCTCTGGGACC	0.612000													1	1	1	0	1	1	0.999997	19	49	0	67	1	3.248762e-01	2	2	0	67	4
ENPEP	2028	broad.mit.edu	37	4	111436563	111436563	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr4:111436563T>C	ENST00000265162.5	+	8	1816	c.1474T>C	c.(1474-1476)Tgg>Cgg	p.W492R	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	23	19	0	32	492					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCTTGAAGACTGGATAAAACC	0.308000													1	1	1	0	1	1	1.000000	29	19	0	33	1	9.499056e-01	4	2	0	33	4
HHIP	64399	broad.mit.edu	37	4	145580958	145580958	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr4:145580958G>T	ENST00000296575.3	+	4	1454	c.799G>T	c.(799-801)Gac>Tac	p.D267Y	HHIP_ENST00000511314.1_3'UTR|HHIP_ENST00000434550.2_Missense_Mutation_p.D267Y|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	60	55	0	108	267						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GCCTTATTTGGACATTCACAA	0.363000													1	1	1	0	1	1	1.000000	66	62	0	117	1	9.964813e-01	9	3	0	117	4
ASB5	140458	broad.mit.edu	37	4	177190223	177190223	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr4:177190223G>T	ENST00000296525.3	-	1	150	c.37C>A	c.(37-39)Caa>Aaa	p.Q13K		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	28	40	0	55	13					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		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)		TTGGATAATTGTTGAGCAAAC	0.423000													1	1	1	0	1	1	1.000000	31	43	0	64	1	7.880770e-01	5	1	0	64	4
IPO11	51194	broad.mit.edu	37	5	61733126	61733126	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr5:61733126G>T	ENST00000325324.6	+	2	189	c.20G>T	c.(19-21)aGc>aTc	p.S7I	IPO11_ENST00000409296.3_Missense_Mutation_p.S47I|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	38	7	0	65	7						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AATAGTGCCAGCACTGTTGTT	0.403000													1	1	1	0	1	1	1.000000	44	8	0	72	0	0	1	0	0	72	4
PCDHA11	0	broad.mit.edu	37	5	140250487	140250487	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr5:140250487C>T	ENST00000398640.2	+	1	1799	c.1799C>T	c.(1798-1800)tCa>tTa	p.S600L	PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018902.3	NP_061725.1				140	16	0	186											breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCGGACTCAGGCTACAAC	0.662000													1	1	1	0	1	1	1.000000	155	17	0	192	0	9.998997e-01	0	6	0	192	4
RNF182	221687	broad.mit.edu	37	6	13977863	13977863	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:13977863G>T	ENST00000488300.1	+	3	1036	c.513G>T	c.(511-513)tgG>tgT	p.W171C	RNF182_ENST00000544682.1_Missense_Mutation_p.W171C|RNF182_ENST00000537388.1_Missense_Mutation_p.W171C|RNF182_ENST00000537663.1_Missense_Mutation_p.W171C	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	51	144	0	144	171						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GGACTGTGTGGAACTGCACGT	0.517000													1	1	1	0	1	1	1.000000	56	159	0	151	0	1.705999e-01	0	3	0	151	4
NKAPL	222698	broad.mit.edu	37	6	28227369	28227369	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:28227369C>T	ENST00000343684.3	+	1	272	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	54	27	0	75	74										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTCGCGAGGGCGGCTCCCAAG	0.612000													1	1	1	0	1	1	1.000000	57	27	0	76	0	0	0	0	0	76	4
ABHD16A	7920	broad.mit.edu	37	6	31669903	31669903	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:31669903G>C	ENST00000395952.3	-	2	299	c.137C>G	c.(136-138)aCg>aGg	p.T46R	XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Intron|ABHD16A_ENST00000375842.4_5'UTR|ABHD16A_ENST00000538874.1_5'UTR	NM_021160.2	NP_066983.1	O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	11	50	0	62	46						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CTGATAGTACGTATCCTGCCA	0.557000													1	1	1	0	1	1	0.998799	11	58	0	68	1	8.994755e-01	7	17	0	68	4
CLIC1	1192	broad.mit.edu	37	6	31701648	31701648	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:31701648A>C	ENST00000375780.2	-	4	812	c.240T>G	c.(238-240)atT>atG	p.I80M	CLIC1_ENST00000395892.1_Missense_Mutation_p.I80M|CLIC1_ENST00000375779.2_Missense_Mutation_p.I80M|CLIC1_ENST00000375784.3_Missense_Mutation_p.I80M			O00299	CLIC1_HUMAN	chloride intracellular channel 1	103	54	0	137	80	Required for insertion into the membrane.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GAAATTCCTCAATCTTGTTGG	0.562000													1	1	1	0	1	1	1.000000	106	57	0	144	1	1	117	101	0	144	4
GJA1	2697	broad.mit.edu	37	6	121768821	121768821	+	Silent	SNP	T	T	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:121768821T>C	ENST00000282561.3	+	2	985	c.828T>C	c.(826-828)gcT>gcC	p.A276A		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	17	55	0	80	276					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			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CACCAACCGCTCCCCTCTCGC	0.512000													1	1	1	0	1	1	0.999997	19	57	0	81	1	1	34	81	0	81	4
PHACTR2	9749	broad.mit.edu	37	6	144093533	144093533	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:144093533C>T	ENST00000427704.2	+	7	1468	c.1338C>T	c.(1336-1338)gaC>gaT	p.D446D	PHACTR2_ENST00000367584.4_Silent_p.D434D|PHACTR2_ENST00000440869.2_Silent_p.D457D|PHACTR2_ENST00000305766.6_Silent_p.D366D|PHACTR2_ENST00000367582.3_Silent_p.D377D	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	25	21	0	34	446							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTGACTCGGACGGGCCTATCT	0.517000													1	1	1	0	1	1	1.000000	26	22	0	38	0	0	1	0	0	38	4
SHPRH	257218	broad.mit.edu	37	6	146243850	146243850	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr6:146243850A>G	ENST00000367503.3	-	19	4078	c.3680T>C	c.(3679-3681)aTt>aCt	p.I1227T	SHPRH_ENST00000367505.2_Missense_Mutation_p.I1223T|SHPRH_ENST00000275233.7_Missense_Mutation_p.I1223T|SHPRH_ENST00000438092.2_Missense_Mutation_p.I1227T	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	47	21	0	55	1223					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCAGACTCAATAACATTACG	0.413000													1	1	1	0	1	1	1.000000	53	21	0	58	1	7.938115e-01	3	0	0	58	4
ZKSCAN1	7586	broad.mit.edu	37	7	99631178	99631178	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr7:99631178G>C	ENST00000324306.6	+	6	1284	c.1050G>C	c.(1048-1050)aaG>aaC	p.K350N	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.K137N|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.K314N	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	15	23	0	58	350					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CAAGGGAGAAGGGGAAAGGAT	0.473000													1	1	1	0	1	1	0.999994	17	25	0	63	1	3.679842e-01	2	1	0	63	4
MGAM	8972	broad.mit.edu	37	7	141736712	141736712	+	Silent	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr7:141736712C>T	ENST00000475668.2	+	18	2220	c.2166C>T	c.(2164-2166)taC>taT	p.Y722Y	MGAM_ENST00000549489.2_Silent_p.Y722Y			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	94	44	0	159	722	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATTGCCCTACCTATACACCC	0.507000													1	1	1	0	1	1	1.000000	100	51	0	168	0	0	0	0	0	168	4
MYOM2	9172	broad.mit.edu	37	8	2021507	2021507	+	Silent	SNP	C	C	T	rs144735881		TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:2021507C>T	ENST00000262113.4	+	10	1188	c.1047C>T	c.(1045-1047)gaC>gaT	p.D349D	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	48	25	0	64	349	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		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)		ACAAGGACGACGAGGGCCTGT	0.607000													1	1	1	0	1	1	1.000000	54	29	0	66	0	0	1	0	0	66	4
TIGD5	84948	broad.mit.edu	37	8	144681482	144681482	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:144681482C>T	ENST00000504548.2	+	1	1409	c.1409C>T	c.(1408-1410)gCg>gTg	p.A470V	TIGD5_ENST00000321385.3_Missense_Mutation_p.A421V	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	11	17	0	17	470					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	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)			CTGGTGCAGGCGGGCAGCATT	0.706000													1	1	1	0	1	1	0.999943	14	19	0	19	1	9.999649e-01	10	24	0	19	4
NFIB	4781	broad.mit.edu	37	9	14307309	14307309	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr9:14307309G>A	ENST00000380959.3	-	2	714	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	NFIB_ENST00000380934.4_Missense_Mutation_p.R107C|NFIB_ENST00000380953.1_Missense_Mutation_p.R81C|NFIB_ENST00000380921.3_Missense_Mutation_p.R81C|NFIB_ENST00000397581.2_Missense_Mutation_p.R81C|NFIB_ENST00000397579.2_Missense_Mutation_p.R81C|NFIB_ENST00000397575.3_Missense_Mutation_p.R81C	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	32	7	0	78	81					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	p.R81C(2)		central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		ATATCTTTGCGCAGTTTGGCA	0.493000			T	MYB, HGMA2	adenoid cystic carcinoma, lipoma								1	1	1	0	1	1	1.000000	34	7	0	80	1	9.999222e-01	9	0	0	80	4
NRAP	4892	broad.mit.edu	37	10	115402734	115402734	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr10:115402734G>A	ENST00000369358.4	-	12	1418	c.1174C>T	c.(1174-1176)Caa>Taa	p.Q392*	NRAP_ENST00000359988.3_Nonsense_Mutation_p.Q392*|NRAP_ENST00000360478.3_Intron|NRAP_ENST00000369360.3_Intron			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	21	66	0	45	392						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTCCTGAATTGAGGTGTTTCA	0.408000													1	1	1	0	1	1	1.000000	26	76	0	47	0	0	0	0	0	47	4
AHNAK	79026	broad.mit.edu	37	11	62293798	62293798	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr11:62293798C>A	ENST00000378024.4	-	5	8365	c.8091G>T	c.(8089-8091)atG>atT	p.M2697I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	145	77	0	197	2697					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCATCTCTGGCATCTTGAACT	0.458000													1	1	1	0	1	1	1.000000	156	89	0	203	1	9.990036e-01	4	6	0	203	4
RAD9A	5883	broad.mit.edu	37	11	67164804	67164804	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr11:67164804G>C	ENST00000307980.2	+	10	1120	c.1027G>C	c.(1027-1029)Gag>Cag	p.E343Q	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	4	12	0	13	343	Sufficient for interaction with ABL1.				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			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CCACTCCGAGGAGGAAGATGA	0.642000								Other conserved DNA damage response genes					0	1	1	0	0	1	0.947080	5	14	0	14	1	9.992977e-01	29	32	0	14	2
AKAP3	10566	broad.mit.edu	37	12	4737296	4737296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:4737296C>A	ENST00000545990.2	-	5	1296	c.772G>T	c.(772-774)Gga>Tga	p.G258*	AKAP3_ENST00000228850.1_Nonsense_Mutation_p.G258*	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	33	188	0	60	258					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AAGAACCTTCCACCCTCTCTG	0.458000													1	1	1	0	1	1	1.000000	34	197	0	65	0	0	1	0	0	65	4
KLRB1	3820	broad.mit.edu	37	12	9760429	9760429	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:9760429G>T	ENST00000229402.3	-	1	53	c.7C>A	c.(7-9)Caa>Aaa	p.Q3K		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	42	81	0	56	3					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						ATTGCTTGTTGGTCCATGGCA	0.438000													1	1	1	0	1	1	1.000000	47	97	0	64	0	0	0	0	0	64	4
SLC25A3	5250	broad.mit.edu	37	12	98987870	98987870	+	Silent	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:98987870C>G	ENST00000188376.5	+	1	468	c.114C>G	c.(112-114)ggC>ggG	p.G38G	SLC25A3_ENST00000401722.3_Silent_p.G38G|SLC25A3_ENST00000547534.1_Silent_p.G38G|SLC25A3_ENST00000549338.1_Silent_p.G38G|SLC25A3_ENST00000548847.1_Silent_p.G38G|SLC25A3_ENST00000228318.3_Silent_p.G38G|SLC25A3_ENST00000552981.1_Silent_p.G38G|SLC25A3_ENST00000551917.1_Silent_p.G38G|SLC25A3_ENST00000551265.1_Silent_p.G38G	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	14	31	0	18	38					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		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)		GGCCCACGGGCCAGCCCCGCC	0.697000													1	1	1	0	1	1	0.999905	14	32	0	18	1	1	87	356	0	18	4
SLC5A8	160728	broad.mit.edu	37	12	101573838	101573838	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr12:101573838G>A	ENST00000536262.2	-	10	1760	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	47	171	0	204	401					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGACGCCAGCGCAGCCATTCC	0.433000													1	1	0	0	1	1	1.000000	54	200	0	240	0	0	0	0	0	240	3
DACH1	1602	broad.mit.edu	37	13	72204835	72204835	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr13:72204835C>G	ENST00000305425.4	-	3	1407	c.985G>C	c.(985-987)Gct>Cct	p.A329P	DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.A329P|DACH1_ENST00000313174.7_Missense_Mutation_p.A329P	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	42	82	0	80	327	Interaction with SIX6 and HDAC3 (By similarity).|Poly-Ala.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		gctgctgcagcggctgcTGTC	0.358000													0	0	1	0	1	1	1.000000	42	82	0	80	0	0	0	0	0	80	2
FLVCR2	55640	broad.mit.edu	37	14	76091051	76091051	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr14:76091051G>A	ENST00000238667.4	+	3	1264	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000553587.1_Missense_Mutation_p.R51Q|FLVCR2_ENST00000539311.1_Missense_Mutation_p.R98Q|FLVCR2_ENST00000556856.1_Missense_Mutation_p.R51Q	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	83	2	0	67	303					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCCATCGCCCGGCTCTTCAAA	0.483000													1	1	1	0	1	1	1.000000	92	4	0	70	1	9.911565e-01	3	0	0	70	4
TPSG1	25823	broad.mit.edu	37	16	1271916	1271916	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:1271916G>A	ENST00000234798.4	-	6	842	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S		NM_012467.3	NP_036599.3	Q9NRR2	TRYG1_HUMAN	tryptase gamma 1	20	20	0	40	280					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			liver(1)|lung(2)|skin(1)	4		Hepatocellular(780;0.00369)				GGGAGCCTGGGGTACCCAGAC	0.652000													1	1	1	0	1	1	1.000000	23	23	0	41	0	0	0	0	0	41	4
PPL	5493	broad.mit.edu	37	16	4944606	4944606	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:4944606C>T	ENST00000345988.2	-	12	1345	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	PPL_ENST00000590782.2_Missense_Mutation_p.R417Q	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	24	35	0	49	419					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCTGTAGCCCCGCGAGATCAG	0.647000													1	1	1	0	1	1	1.000000	25	38	0	53	0	0	0	0	0	53	4
FOPNL	123811	broad.mit.edu	37	16	15978005	15978005	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:15978005C>T	ENST00000255759.6	-	2	115	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	FOPNL_ENST00000575073.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000573429.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000573968.1_Missense_Mutation_p.R29Q|FOPNL_ENST00000573396.1_Missense_Mutation_p.R29Q	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	19	22	0	36	29	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding			breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						AACTTCAGCTCGGATCCTTGC	0.358000													1	1	1	0	1	1	1.000000	20	27	0	39	1	9.983360e-01	8	11	0	39	4
USP10	9100	broad.mit.edu	37	16	84801887	84801887	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr16:84801887C>T	ENST00000219473.7	+	11	2034	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C	USP10_ENST00000570191.1_Missense_Mutation_p.R645C	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	10	7	0	8	641					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			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGACAAGATACGCACAGTCCA	0.428000													0	1	1	0	0	1	0.999329	10	7	0	9	1	1	49	60	0	9	2
TP53	7157	broad.mit.edu	37	17	7578291	7578291	+	Splice_Site	SNP	T	T	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:7578291T>G	ENST00000420246.2	-	6	692		c.e6-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	58	6	0	51						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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GGGCCAGACCTAAGAGCAATC	0.552000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	0	1	1	1.000000	62	7	0	53	1	9.987496e-01	4	0	0	53	4
EFNB3	1949	broad.mit.edu	37	17	7611523	7611523	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:7611523C>G	ENST00000226091.2	+	2	767	c.370C>G	c.(370-372)Ctc>Gtc	p.L124V		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	44	115	0	102	124					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TAGCCCTAATCTCTGGGGCCA	0.577000													1	1	1	0	1	1	1.000000	46	125	0	110	1	9.494388e-01	4	12	0	110	4
DNAH2	146754	broad.mit.edu	37	17	7671536	7671536	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:7671536A>G	ENST00000572933.1	+	24	5352	c.3892A>G	c.(3892-3894)Agg>Ggg	p.R1298G	DNAH2_ENST00000389173.2_Missense_Mutation_p.R1298G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	118	85	0	147	1298	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAGTTCAAGAGGACCATGCC	0.572000													1	1	1	0	1	1	1.000000	130	97	0	156	0	0	0	0	0	156	4
KRTAP3-1	83896	broad.mit.edu	37	17	39165215	39165215	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:39165215G>T	ENST00000391588.1	-	1	151	c.112C>A	c.(112-114)Cat>Aat	p.H38N	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	28	86	0	55	38	4 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				CTGATCTCATGTGGGCAGGTG	0.602000													1	1	1	0	1	1	1.000000	29	88	0	55	0	0	0	0	0	55	4
PSME3	10197	broad.mit.edu	37	17	40990780	40990780	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:40990780G>C	ENST00000293362.3	+	7	638	c.477G>C	c.(475-477)agG>agC	p.R159S	PSME3_ENST00000590720.1_Missense_Mutation_p.R146S|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000545225.1_Missense_Mutation_p.R85S|PSME3_ENST00000592169.1_Missense_Mutation_p.R90S|PSME3_ENST00000441946.2_Missense_Mutation_p.R157S	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	51	45	0	57	146					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 proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TGATTCCCAGGATAGAAGATG	0.458000													1	1	1	0	1	1	1.000000	55	52	0	65	1	1	82	42	0	65	4
CCDC57	284001	broad.mit.edu	37	17	80141803	80141803	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr17:80141803C>T	ENST00000392347.1	-	8	1094	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000389641.4_Missense_Mutation_p.R353H|CCDC57_ENST00000392343.3_Missense_Mutation_p.R353H	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	17	23	0	31	353										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	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)			TGCATCTTCACGAAGTCTAAA	0.468000													1	1	1	0	1	1	0.999997	18	25	0	36	1	9.506846e-01	4	6	0	36	4
CALR	811	broad.mit.edu	37	19	13049506	13049506	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr19:13049506G>A	ENST00000316448.5	+	1	86	c.13G>A	c.(13-15)Gtg>Atg	p.V5M		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	15	10	0	25	5					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			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGCTATCCGTGCCGCTGCT	0.711000											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	0	0	1	0.999999	18	14	0	28	1	1	258	238	0	28	3
LAMA5	3911	broad.mit.edu	37	20	60913126	60913126	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr20:60913126C>A	ENST00000252999.3	-	14	1903	c.1837G>T	c.(1837-1839)Gga>Tga	p.G613*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	42	13	0	26	613	Laminin EGF-like 6.				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			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAATGAGGTCCAGCAAACTCA	0.652000													1	1	1	0	1	1	1.000000	47	15	0	27	0	8.395105e-01	1	2	0	27	4
PRAF2	11230	broad.mit.edu	37	X	48929638	48929638	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:48929638G>A	ENST00000376390.4	-	3	510	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	WDR45_ENST00000553851.1_Missense_Mutation_p.R257C|PRAF2_ENST00000491199.1_5'UTR|WDR45_ENST00000376358.3_Missense_Mutation_p.R257C	NM_007213.1	NP_009144.1			PRA1 domain family, member 2	26	34	0	68											endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	8						TTAAGGTTGCGCAGGCGCAAC	0.602000													1	1	1	0	1	1	1.000000	27	47	0	79	0	1	0	144	0	79	4
HEPH	9843	broad.mit.edu	37	X	65418862	65418862	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:65418862G>A	ENST00000519389.1	+	11	2197	c.2018G>A	c.(2017-2019)cGg>cAg	p.R673Q	HEPH_ENST00000419594.1_Intron|HEPH_ENST00000343002.2_Missense_Mutation_p.R619Q|HEPH_ENST00000374727.3_Missense_Mutation_p.R622Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R352Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R622Q			Q9BQS7	HEPH_HUMAN	hephaestin	42	47	0	76	619	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GACTCCAATCGGATGCATGGT	0.448000													1	1	1	0	1	1	1.000000	55	57	0	82	0	4.869565e-01	0	3	0	82	4
SLC7A3	84889	broad.mit.edu	37	X	70148385	70148385	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:70148385C>T	ENST00000374299.3	-	4	772	c.628G>A	c.(628-630)Gtt>Att	p.V210I	SLC7A3_ENST00000298085.4_Missense_Mutation_p.V210I			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	9	6	0	16	210					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TCCCCCTTAACGAAGCCAGAG	0.507000													0	1	1	0	1	1	0.998141	9	8	0	17	0	0	1	0	0	17	3
TRMT2B	79979	broad.mit.edu	37	X	100278581	100278581	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:100278581A>G	ENST00000338687.7	-	7	1304	c.499T>C	c.(499-501)Tct>Cct	p.S167P	TRMT2B_ENST00000545398.1_Missense_Mutation_p.S212P|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S212P|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372935.1_Missense_Mutation_p.S212P|TRMT2B_ENST00000372936.3_Missense_Mutation_p.S212P|TRMT2B_ENST00000372939.1_Missense_Mutation_p.S167P			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	32	26	0	70	212							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TCCAATGGAGACTGTCGAAGG	0.443000													1	1	1	0	1	1	1.000000	35	26	0	72	0	9.991659e-01	0	13	0	72	4
NRK	203447	broad.mit.edu	37	X	105153215	105153215	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chrX:105153215G>A	ENST00000428173.2	+	13	1888	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	NRK_ENST00000243300.9_Missense_Mutation_p.E528K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	26	22	0	51	528	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCAGGTACCCGAACAACAAAG	0.552000										HNSCC(51;0.14)			1	1	1	0	1	1	1.000000	27	23	0	51	0	8.456261e-01	0	5	0	51	4
CELSR2	1952	broad.mit.edu	37	1	109793392	109793394	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr1:109793392_109793394delTTC	ENST00000271332.3	+	1	752_754	c.691_693delTTC	c.(691-693)del	p.F232del		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	15	38	0	47	232	Cadherin 1.				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			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		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)		CTCCAACCAGTTCTTCTCCCTGG	0.616000													1	1	1	0	0	1	0.999969	16	53	0	48							3
RMDN1	51115	broad.mit.edu	37	8	87498823	87498824	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr8:87498823_87498824insT	ENST00000406452.3	-	4	543_544	c.384_385insA	c.(382-387)gtctcafs	p.S129fs	RMDN1_ENST00000430676.2_Frame_Shift_Ins_p.S129fs|RMDN1_ENST00000523911.1_Frame_Shift_Ins_p.S85fs|RMDN1_ENST00000519966.1_Frame_Shift_Ins_p.S129fs|CPNE3_ENST00000198765.4_Intron	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1	24	39	0	50																		CTAAGCTGAGCTACATCACGTG	0.371000													1	1	1	0	0	1	1.000000	24	64	0	50	1	9.999503e-01	5	44	0	50	3
ATE1	11101	broad.mit.edu	37	10	123503221	123503236	+	Frame_Shift_Del	DEL	CGGAGCACTTCTGCCC	CGGAGCACTTCTGCCC	-	rs146965571	byFrequency	TCGA-N5-A4R8-01A-11D-A28R-08	TCGA-N5-A4R8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cfe9c-405b-4e39-a4c1-a68ea61dfc6a	2204ecdd-1591-4ebf-ad83-6ec1fc3e9053	g.chr10:123503221_123503236delCGGAGCACTTCTGCCC	ENST00000369043.3	-	12	1602_1617	c.1516_1531delGGGCAGAAGTGCTCCG	c.(1516-1533)agfs	p.GQKCSE506fs	ATE1_ENST00000369040.3_Frame_Shift_Del_p.GQKCSE410fs|ATE1_ENST00000535655.1_Frame_Shift_Del_p.GQKCSE207fs|ATE1_ENST00000543447.1_Frame_Shift_Del_p.GQKCSE391fs|ATE1_ENST00000540606.1_Frame_Shift_Del_p.GQKCSE499fs|ATE1_ENST00000224652.6_Frame_Shift_Del_p.GQKCSE506fs	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	10	48	0	53	506					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AGCATCCGCTCGGAGCACTTCTGCCCCACCAGGCTG	0.519000													1	1	1	0	0	1	0.999400	12	59	0	51	0	3.609064e-01	0	7	0	51	3
HSPB7	27129	broad.mit.edu	37	1	16342195	16342195	+	Silent	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:16342195G>A	ENST00000311890.9	-	3	1219	c.393C>T	c.(391-393)gaC>gaT	p.D131D	HSPB7_ENST00000406363.2_Silent_p.D135D|HSPB7_ENST00000487046.1_Silent_p.D136D|HSPB7_ENST00000411503.1_Silent_p.D126D|HSPB7_ENST00000375718.4_Silent_p.D206D	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	72	48	0	99	131					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	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;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TCGGGTCCACGTCCTCCGGCA	0.677000													1	1	1	1	1	1	1.000000	82	54	0	114	1	1	57	24	0	114	5
USH2A	7399	broad.mit.edu	37	1	216595499	216595499	+	Silent	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:216595499G>A	ENST00000366943.2	-	2	566	c.180C>T	c.(178-180)ctC>ctT	p.L60L	USH2A_ENST00000307340.3_Silent_p.L60L|USH2A_ENST00000366942.3_Silent_p.L60L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	37	28	1	60	60					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCGGTCTGGGAGTCCACATA	0.483000										HNSCC(13;0.011)			1	0	1	1	1	1	1.000000	39	29	1	60	0	0	1	0	1	60	4
ITSN2	50618	broad.mit.edu	37	2	24438918	24438918	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:24438918C>T	ENST00000355123.4	-	32	4433	c.3990_splice	c.e32+1	p.K1330_splice	AC009228.1_ENST00000413254.1_RNA|AC009228.1_ENST00000413989.1_RNA|ITSN2_ENST00000361999.3_Splice_Site_p.K1303_splice|AC009228.1_ENST00000430105.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	35	26	0	46	1330	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGAATTACCTTTAAAAATT	0.498000													1	1	1	1	1	1	1.000000	37	26	0	47	0	8.922187e-01	1	4	0	47	5
SMYD1	150572	broad.mit.edu	37	2	88390583	88390583	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:88390583G>A	ENST00000419482.2	+	4	666	c.581G>A	c.(580-582)gGc>gAc	p.G194D	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.G194D	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	65	176	0	165	194	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAGGCCGTGGGCGTAGGCATC	0.498000													1	1	1	1	1	1	1.000000	71	187	0	175	1	9.994598e-01	16	17	0	175	5
SCN1A	6323	broad.mit.edu	37	2	166908389	166908389	+	Silent	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:166908389C>T	ENST00000423058.2	-	6	821	c.804G>A	c.(802-804)ctG>ctA	p.L268L	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L268L|SCN1A_ENST00000303395.4_Silent_p.L268L|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.L268L|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	25	79	0	57	268						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGCCCATGAACAGCTGCAGCC	0.433000													1	1	1	1	1	1	1.000000	29	87	0	60	0	0	0	0	0	60	5
MLTK	0	broad.mit.edu	37	2	174081932	174081932	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr2:174081932G>T	ENST00000338983.3	+	11	1136	c.941G>T	c.(940-942)cGt>cTt	p.R314L	MLTK_ENST00000539448.1_Missense_Mutation_p.R314L|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000431503.2_Missense_Mutation_p.R213L|MLTK_ENST00000409176.2_Missense_Mutation_p.R314L|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000375213.3_Missense_Mutation_p.R314L	NM_133646.2	NP_598407.1				15	97	0	66																		CGAGAAAGACGTTTAAAGATG	0.532000													1	1	1	1	1	1	0.999955	16	103	0	72	1	7.920823e-01	10	10	0	72	5
TSEN2	80746	broad.mit.edu	37	3	12531391	12531391	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:12531391A>G	ENST00000444864.1	+	2	479	c.92A>G	c.(91-93)cAt>cGt	p.H31R	TSEN2_ENST00000454502.2_Missense_Mutation_p.H31R|TSEN2_ENST00000383797.5_Missense_Mutation_p.H31R|TSEN2_ENST00000415684.1_Missense_Mutation_p.H31R|TSEN2_ENST00000402228.3_Missense_Mutation_p.H31R|TSEN2_ENST00000284995.6_Missense_Mutation_p.H31R|TSEN2_ENST00000314571.7_Missense_Mutation_p.H31R	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	30	67	0	69	31					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(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GGTCAGGACCATGGTCCTCTG	0.433000													1	1	1	1	1	1	1.000000	30	71	0	72	1	4.717849e-01	2	3	0	72	5
CD86	942	broad.mit.edu	37	3	121825307	121825307	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:121825307A>C	ENST00000330540.2	+	4	779	c.663A>C	c.(661-663)gaA>gaC	p.E221D	CD86_ENST00000469710.1_Missense_Mutation_p.E139D|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.E215D|CD86_ENST00000493101.1_Missense_Mutation_p.E109D	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	47	153	0	125	221	Ig-like C2-type.				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			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GTATTCTGGAAACTGACAAGA	0.388000													1	1	1	1	1	1	1.000000	51	177	0	140	0	0	0	1	0	140	5
PODXL2	50512	broad.mit.edu	37	3	127358250	127358250	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:127358250G>T	ENST00000342480.6	+	2	272	c.233G>T	c.(232-234)gGc>gTc	p.G78V		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	30	46	0	45	78					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGAGCCCCTGGCTCAGGCTTC	0.597000													1	1	1	1	1	1	1.000000	32	48	0	46	1	9.999998e-01	16	32	0	46	5
CLCN2	1181	broad.mit.edu	37	3	184073266	184073266	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr3:184073266G>A	ENST00000265593.4	-	12	1393	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.R408C|CLCN2_ENST00000423355.2_Missense_Mutation_p.R49C|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000434054.2_Missense_Mutation_p.R364C|CLCN2_ENST00000457512.1_Missense_Mutation_p.R408C	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	59	83	0	108	408						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	AGGCCCTGGCGGACCCACGTC	0.582000													1	1	1	1	1	1	1.000000	66	90	0	123	1	9.622685e-01	6	4	0	123	5
FBXW7	0	broad.mit.edu	37	4	153250873	153250873	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr4:153250873C>T	ENST00000281708.4	-	8	2416	c.1187G>A	c.(1186-1188)aGt>aAt	p.S396N	FBXW7_ENST00000263981.5_Missense_Mutation_p.S316N|FBXW7_ENST00000603548.1_Missense_Mutation_p.S396N|FBXW7_ENST00000296555.5_Missense_Mutation_p.S278N|FBXW7_ENST00000603841.1_Missense_Mutation_p.S396N|FBXW7_ENST00000393956.3_Missense_Mutation_p.S220N	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	44	7	0	59	396					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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATCAGAACCACTAACTATTCG	0.348000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	46	10	0	64	1	6.592636e-01	2	0	0	64	5
SKIV2L2	23517	broad.mit.edu	37	5	54619970	54619970	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr5:54619970C>A	ENST00000230640.5	+	3	537	c.283C>A	c.(283-285)Ctg>Atg	p.L95M	SKIV2L2_ENST00000545714.1_Intron|SKIV2L2_ENST00000504388.1_3'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	6	18	0	14	95					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTTGGCAGACCTGATGCCCAG	0.348000													1	1	1	1	1	1	0.971191	6	21	0	14	1	3.497405e-01	3	2	0	14	5
ACOT12	134526	broad.mit.edu	37	5	80626633	80626633	+	Splice_Site	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr5:80626633G>T	ENST00000307624.3	-	14	1546	c.1518_splice	c.e14+1	p.I506_splice	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	16	25	0	44	506	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		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)		TCAAACTTACGATGCATGAAT	0.398000													1	1	1	1	1	1	0.999983	16	28	0	49	0	0	0	0	0	49	5
KIAA1244	57221	broad.mit.edu	37	6	138584324	138584324	+	Silent	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr6:138584324G>T	ENST00000251691.4	+	12	1870	c.1704G>T	c.(1702-1704)acG>acT	p.T568T		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	10	118	0	75	568					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAAGCCACACGGTCCCTTACC	0.507000													1	1	1	1	0	1	0.997224	10	128	0	76	0	0	0	0	0	76	4
DDX56	54606	broad.mit.edu	37	7	44608737	44608737	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr7:44608737G>T	ENST00000258772.5	-	10	1391	c.1285C>A	c.(1285-1287)Cgc>Agc	p.R429S	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R389S	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	20	74	0	90	429					rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	p.R429C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						ACCCTGCAGCGATAGCGGAAG	0.627000													1	1	1	1	1	1	1.000000	22	83	0	98	1	1	121	253	0	98	5
PIK3CG	5294	broad.mit.edu	37	7	106508394	106508394	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr7:106508394C>T	ENST00000359195.3	+	2	698	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R130W|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R130W	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	33	39	0	25	130					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			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGCCACGCACCGGAGCCCGGG	0.637000													1	1	1	1	1	1	1.000000	37	41	0	28	0	0	0	0	0	28	5
TNPO3	23534	broad.mit.edu	37	7	128630096	128630096	+	Missense_Mutation	SNP	C	C	T	rs150330408		TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr7:128630096C>T	ENST00000393245.1	-	11	1892	c.1519G>A	c.(1519-1521)Gta>Ata	p.V507I	TNPO3_ENST00000482320.1_Missense_Mutation_p.V407I|TNPO3_ENST00000265388.5_Missense_Mutation_p.V473I|TNPO3_ENST00000471166.1_Missense_Mutation_p.V507I|TNPO3_ENST00000471234.1_Missense_Mutation_p.V473I	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	88	107	0	94	473					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GCCGTATGTACGGTCTCCGGG	0.478000													1	1	1	1	1	1	1.000000	92	114	0	105	1	9.999955e-01	16	12	0	105	5
SULF1	23213	broad.mit.edu	37	8	70541903	70541903	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:70541903C>G	ENST00000260128.4	+	19	2990	c.2273C>G	c.(2272-2274)cCg>cGg	p.P758R	SULF1_ENST00000402687.4_Missense_Mutation_p.P758R|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.P758R|SULF1_ENST00000458141.2_Missense_Mutation_p.P758R	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	66	1417	0	172	758					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			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGACAGCCCCGTTCTGGAAC	0.522000													1	0	1	1	0	1	1.000000	71	1608	0	187	1	9.866951e-01	7	143	0	187	3
MTSS1	9788	broad.mit.edu	37	8	125711778	125711778	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr8:125711778G>T	ENST00000518547.1	-	3	670	c.197C>A	c.(196-198)aCc>aAc	p.T66N	MTSS1_ENST00000378017.3_Missense_Mutation_p.T66N|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Missense_Mutation_p.T66N	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	26	24	0	32	66	IMD.				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			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACGTGTGTTGGTGGCCATGTC	0.493000													1	1	1	1	1	1	1.000000	28	25	0	36	1	9.670243e-01	7	1	0	36	5
FOCAD	54914	broad.mit.edu	37	9	20862655	20862655	+	Silent	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr9:20862655C>T	ENST00000380249.1	+	18	2363	c.1999C>T	c.(1999-2001)Ctg>Ttg	p.L667L	FOCAD_ENST00000338382.6_Silent_p.L667L|FOCAD_ENST00000605086.1_Silent_p.L103L	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	67	8	0	80	667						integral to membrane	binding										TCTGAAGACACTGAGTGAACT	0.428000													1	1	1	1	1	1	1.000000	69	8	0	87	0	0	0	0	0	87	5
ZMIZ1	57178	broad.mit.edu	37	10	81050918	81050918	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr10:81050918G>A	ENST00000334512.5	+	10	1315	c.743G>A	c.(742-744)gGg>gAg	p.G248E	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	7	38	0	43	248					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	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)			CCCGGCAGCGGGGGCTTTGGG	0.652000													1	1	1	1	1	1	0.983479	7	40	0	43	1	1.958117e-01	2	3	0	43	5
PRH1	5554	broad.mit.edu	37	12	11036812	11036812	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr12:11036812A>G	ENST00000428168.2	-	1	42	c.5T>C	c.(4-6)cTt>cCt	p.L2P	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	19	61	0	63	2						extracellular space	protein binding			endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		CAGAATCAGAAGCATCTTGCA	0.488000													1	1	1	1	1	1	1.000000	24	70	0	71	0	6.485263e-01	0	2	0	71	5
KRT6C	286887	broad.mit.edu	37	12	52865910	52865910	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr12:52865910C>T	ENST00000252250.6	-	2	742	c.695G>A	c.(694-696)cGg>cAg	p.R232Q		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	100	24	0	140	232	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CAGGCGGCCCCGTTCCCCGAC	0.572000													1	1	1	1	1	1	1.000000	111	26	0	132	0	0	0	0	0	132	5
TRPC4	7223	broad.mit.edu	37	13	38237782	38237782	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr13:38237782A>C	ENST00000379705.3	-	6	2316	c.1459T>G	c.(1459-1461)Ttc>Gtc	p.F487V	TRPC4_ENST00000379679.1_Missense_Mutation_p.F314V|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.F487V|TRPC4_ENST00000338947.5_Missense_Mutation_p.F314V|TRPC4_ENST00000358477.2_Missense_Mutation_p.F487V|TRPC4_ENST00000447043.1_Missense_Mutation_p.F487V|TRPC4_ENST00000379681.3_Missense_Mutation_p.F487V|TRPC4_ENST00000379673.2_Missense_Mutation_p.F487V			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	22	53	0	57	487					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			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				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)		AGAGAACTGAAGATGTTTGCA	0.448000													1	1	1	1	1	1	1.000000	24	59	0	65	0	0	0	0	0	65	5
ARID4A	5926	broad.mit.edu	37	14	58795010	58795010	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr14:58795010T>G	ENST00000355431.3	+	9	1011	c.638T>G	c.(637-639)gTt>gGt	p.V213G	ARID4A_ENST00000348476.3_Missense_Mutation_p.V213G|ARID4A_ENST00000395168.3_Missense_Mutation_p.V213G|ARID4A_ENST00000431317.2_Missense_Mutation_p.V213G	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	15	20	0	24	213					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGTGTTTAGTTCGATCATTT	0.333000													1	1	1	1	1	1	0.999995	17	23	0	27	0	0	0	1	0	27	5
DAAM1	23002	broad.mit.edu	37	14	59793305	59793305	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr14:59793305A>T	ENST00000395125.1	+	10	1275	c.1252A>T	c.(1252-1254)Aaa>Taa	p.K418*	DAAM1_ENST00000360909.3_Nonsense_Mutation_p.K418*|DAAM1_ENST00000351081.1_Nonsense_Mutation_p.K418*	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	46	45	0	59	418	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCAGAATGACAAAGGACAGGA	0.378000													1	1	1	1	1	1	1.000000	49	49	0	64	0	0	0	1	0	64	5
SPTB	6710	broad.mit.edu	37	14	65253730	65253730	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr14:65253730G>A	ENST00000389722.3	-	15	3006	c.2953C>T	c.(2953-2955)Cgg>Tgg	p.R985W	SPTB_ENST00000556626.1_Missense_Mutation_p.R985W|SPTB_ENST00000389721.5_Missense_Mutation_p.R985W|SPTB_ENST00000542895.1_Missense_Mutation_p.R985W|SPTB_ENST00000389720.3_Missense_Mutation_p.R985W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	28	42	0	49	985					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			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		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)		GCCAGGTCCCGCCCCAGGTCT	0.602000													1	1	1	1	1	1	1.000000	30	47	0	52	1	9.855003e-01	6	8	0	52	5
ACOT2	10965	broad.mit.edu	37	14	74036425	74036425	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr14:74036425C>G	ENST00000238651.5	+	1	663	c.481C>G	c.(481-483)Cga>Gga	p.R161G	ACOT2_ENST00000538782.1_Intron	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	9	36	0	22	161					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			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GCGCGACGTGCGAACGCCCTT	0.721000													1	1	0	1	0	1	0.995741	9	38	0	22	1	9.612022e-01	3	7	0	22	3
MAPKBP1	23005	broad.mit.edu	37	15	42109861	42109861	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr15:42109861C>T	ENST00000457542.2	+	16	2118	c.1832C>T	c.(1831-1833)aCg>aTg	p.T611M	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.T494M|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.T611M|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.T617M|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.T450M	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	27	20	1	66	617										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		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)		GTGCGGAAGACGACCCTCTAT	0.612000													1	0	1	1	1	1	1.000000	27	22	1	74	0	0	1	0	1	74	4
POTEC	388468	broad.mit.edu	37	18	14543050	14543050	+	Silent	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr18:14543050G>A	ENST00000358970.5	-	1	95	c.96C>T	c.(94-96)ttC>ttT	p.F32F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	119	114	0	251	32										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCAGCAGGGGAAGCGGTGGT	0.552000													1	0	1	1	1	1	1.000000	125	128	0	252	0	0	0	0	0	252	4
WDR7	23335	broad.mit.edu	37	18	54385303	54385303	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr18:54385303A>G	ENST00000254442.3	+	13	1898	c.1687A>G	c.(1687-1689)Att>Gtt	p.I563V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.I563V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	36	99	0	91	563										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCTTTTTCCTATTCAAGTAAT	0.443000													1	1	1	1	1	1	1.000000	39	105	0	96	0	0	0	0	0	96	5
ZNF831	128611	broad.mit.edu	37	20	57766698	57766698	+	Silent	SNP	C	C	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr20:57766698C>A	ENST00000371030.2	+	1	624	c.624C>A	c.(622-624)ggC>ggA	p.G208G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	42	131	0	78	208						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGTCCGAGGGCGCCGGGGGCG	0.677000													1	1	1	1	0	1	1.000000	53	137	0	82	0	0	0	0	0	82	4
ZNF831	128611	broad.mit.edu	37	20	57766724	57766724	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr20:57766724G>T	ENST00000371030.2	+	1	650	c.650G>T	c.(649-651)gGg>gTg	p.G217V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	32	124	0	68	217						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTGGAGGAAGGGGACAAGGCC	0.687000													1	0	1	1	1	1	1.000000	43	135	0	73	0	0	0	0	0	73	4
TRPM2	7226	broad.mit.edu	37	21	45844759	45844759	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr21:45844759C>T	ENST00000397928.1	+	24	4019	c.3574C>T	c.(3574-3576)Cac>Tac	p.H1192Y	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.H1242Y|TRPM2_ENST00000300481.9_Missense_Mutation_p.H1172Y|TRPM2_ENST00000300482.5_Missense_Mutation_p.H1192Y	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	12	8	0	14	1192						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCAAGCCCTGCACTGGATCGT	0.682000													0	1	1	1	1	1	0.999976	14	10	0	16	1	9.279446e-01	4	2	0	16	4
SEPT5	5413	broad.mit.edu	37	22	19709220	19709220	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr22:19709220C>T	ENST00000438754.2	+	8	1082	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W	SEPT5_ENST00000406395.1_Missense_Mutation_p.R259W|SEPT5_ENST00000455784.2_Missense_Mutation_p.R259W|SEPT5_ENST00000383045.3_Missense_Mutation_p.R268W	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	31	120	0	96	259					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)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CAAGGGGCAGCGGGTCCGGGG	0.672000													1	1	1	1	0	1	1.000000	36	126	0	103	1	1	74	249	0	103	4
PLXNB2	23654	broad.mit.edu	37	22	50716562	50716562	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr22:50716562C>T	ENST00000449103.1	-	31	5011	c.4871G>A	c.(4870-4872)cGg>cAg	p.R1624Q	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1624Q			O15031	PLXB2_HUMAN	plexin B2	28	9	0	80	1624					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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)		TGAGAGCAGCCGCGTCAGGTA	0.687000													1	1	1	1	1	1	1.000000	31	9	0	84	1	1	185	4	0	84	5
GTPBP6	8225	broad.mit.edu	37	X	229480	229480	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chrX:229480G>A	ENST00000326153.4	-	2	181	c.182C>T	c.(181-183)aCg>aTg	p.T61M				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	29	10	0	63	290						intracellular	GTP binding	p.D60D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		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)				CTCCCGCCTCGTCCGCTGCCG	0.662000													1	1	1	1	1	1	1.000000	31	10	0	69	1	1	52	39	0	69	5
CXorf22	170063	broad.mit.edu	37	X	35993823	35993823	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chrX:35993823G>A	ENST00000297866.5	+	15	2572	c.2506G>A	c.(2506-2508)Gga>Aga	p.G836R		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	47	68	0	96	836										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGTACCCAGTGGACACATCCT	0.388000													1	0	1	1	1	1	1.000000	48	70	0	99	0	0	0	0	0	99	4
ATG4A	115201	broad.mit.edu	37	X	107374496	107374496	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chrX:107374496C>T	ENST00000372232.3	+	4	359	c.200C>T	c.(199-201)aCg>aTg	p.T67M	ATG4A_ENST00000345734.3_Missense_Mutation_p.T67M|ATG4A_ENST00000545696.1_5'UTR|ATG4A_ENST00000372254.3_Missense_Mutation_p.T43M	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	38	87	0	160	67					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						ACAGGTGGAACGGGCCCTTCA	0.473000													1	1	1	1	1	1	1.000000	45	98	0	171	0	2.396826e-01	0	3	0	171	5
ZBTB7B	51043	broad.mit.edu	37	1	154987765	154987765	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:154987765delA	ENST00000368426.3	+	3	766	c.629delA	c.(628-630)cafs	p.Q210fs	ZBTB7B_ENST00000535420.1_Frame_Shift_Del_p.Q210fs|ZBTB7B_ENST00000292176.2_Frame_Shift_Del_p.Q210fs|ZBTB7B_ENST00000417934.2_Frame_Shift_Del_p.Q244fs|ZBTB7B_ENST00000487542.1_3'UTR	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	87	232	0	115	210					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	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)			GCTTTCCTGCAAACCAAGGGG	0.672000													1	1	1	1	0	1	1.000000	87	332	0	122	1	9.885484e-01	9	20	0	122	4
LAMC1	3915	broad.mit.edu	37	1	182993005	182993018	+	Frame_Shift_Del	DEL	CCCGAGTTCGTCAA	CCCGAGTTCGTCAA	-			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr1:182993005_182993018delCCCGAGTTCGTCAA	ENST00000258341.4	+	1	411_424	c.154_167delCCCGAGTTCGTCAA	c.(154-168)cfs	p.PEFVN52fs		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	7	47	0	37	52	Laminin N-terminal.				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			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGCTGCATGCCCGAGTTCGTCAACGCCGCCTTC	0.710000													0	0	1	1	0	1	0.982824	7	53	0	39	0	1.811831e-01	0	6	0	39	2
TP53	7157	broad.mit.edu	37	17	7579718	7579718	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RA-01A-11D-A28R-08	TCGA-N5-A4RA-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3dc3c63-8571-457e-b20e-775f7fd21b7b	81db3ca2-9fc2-41e6-8d59-f99d874a163d	g.chr17:7579718delA	ENST00000420246.2	-	3	210	c.78delT	c.(76-78)ctfs	p.L26fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.L26fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L26fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.L26fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	51	19	0	107	26	Interaction with HRMT1L2.|Transcription activation (acidic).				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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L26fs*18(1)|p.P13fs*18(1)|p.L26fs*11(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TGTTTTCAGGAAGTCTGAAAG	0.622000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	0	1	1.000000	51	77	0	107	1	9.999996e-01	19	22	0	107	4
LRP8	7804	broad.mit.edu	37	1	53746264	53746264	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:53746264G>A	ENST00000306052.6	-	4	592	c.491C>T	c.(490-492)gCt>gTt	p.A164V	LRP8_ENST00000347547.2_Missense_Mutation_p.A164V|LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000371454.2_Missense_Mutation_p.A164V|LRP8_ENST00000354412.3_Missense_Mutation_p.A164V	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	3	40	0	56	164	LDL-receptor class A 3.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTCACAGGTAGCACAGCCGGC	0.652000													1	0	0	1	0	1	0.940987	5	44	0	59	0	0	0	1	0	59	2
INADL	10207	broad.mit.edu	37	1	62237128	62237128	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:62237128C>T	ENST00000371158.2	+	6	664	c.550C>T	c.(550-552)Caa>Taa	p.Q184*	INADL_ENST00000316485.6_Nonsense_Mutation_p.Q184*	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	8	8	0	33	184	PDZ 1.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGAAAATGATCAAATATTGGC	0.308000													1	1	1	1	1	1	0.997967	9	9	0	35	0	0	0	0	0	35	5
RPRD2	23248	broad.mit.edu	37	1	150443187	150443187	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:150443187A>G	ENST00000401000.4	+	10	1750	c.1685A>G	c.(1684-1686)aAa>aGa	p.K562R	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.K588R|RPRD2_ENST00000539519.1_Missense_Mutation_p.K562R			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	14	28	0	46	588	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTTATTCCCAAAAGCTTCAAC	0.502000													1	1	1	1	1	1	0.999910	14	30	0	49	1	9.812928e-01	7	11	0	49	5
HMCN1	83872	broad.mit.edu	37	1	186121933	186121933	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr1:186121933C>T	ENST00000271588.4	+	96	15177	c.14948C>T	c.(14947-14949)tCt>tTt	p.S4983F	HMCN1_ENST00000367492.2_Missense_Mutation_p.S4983F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	16	72	0	93	4983	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCGATGGTTCTTTGCTGCTA	0.428000													1	0	1	1	1	1	0.999981	17	78	0	97	1	8.506288e-01	3	15	0	97	4
SPTBN1	0	broad.mit.edu	37	2	54853210	54853210	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:54853210G>A	ENST00000333896.5	+	11	1829	c.1444G>A	c.(1444-1446)Gac>Aac	p.D482N	SPTBN1_ENST00000356805.4_Missense_Mutation_p.D495N	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	75	101	1	177	495					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAATTACCACGACATCAAGCG	0.577000													1	0	1	1	1	1	1.000000	87	117	1	195	1	8.028542e-01	3	3	1	195	4
ASPRV1	151516	broad.mit.edu	37	2	70187809	70187809	+	Missense_Mutation	SNP	G	G	A	rs140244507		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:70187809G>A	ENST00000320256.4	-	1	1588	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	34	49	0	89	338					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGCTCCTGCCGCCCTTCTTCT	0.557000													1	1	1	1	1	1	1.000000	35	57	0	94	1	8.083871e-01	5	2	0	94	5
IL36G	56300	broad.mit.edu	37	2	113736846	113736846	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:113736846G>T	ENST00000259205.4	+	3	173	c.104G>T	c.(103-105)tGg>tTg	p.W35L	IL36G_ENST00000376489.2_Intron	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	18	33	0	57	35					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CAGCAAGTGTGGACCCTTCAG	0.448000													1	1	1	1	1	1	1.000000	21	39	0	63	0	0	0	0	0	63	5
C1QL2	165257	broad.mit.edu	37	2	119914536	119914536	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr2:119914536G>T	ENST00000272520.3	-	2	1325	c.706C>A	c.(706-708)Cag>Aag	p.Q236K		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	70	81	0	210	236	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TCGGCGTCCTGTGCAATGGCG	0.642000										HNSCC(49;0.14)			1	1	1	1	1	1	1.000000	73	85	0	226	0	7.583672e-01	1	4	0	226	5
PHF7	51533	broad.mit.edu	37	3	52454935	52454935	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:52454935C>T	ENST00000327906.3	+	7	1090	c.430C>T	c.(430-432)Cat>Tat	p.H144Y	PHF7_ENST00000478707.1_Missense_Mutation_p.H144Y|PHF7_ENST00000347025.2_Missense_Mutation_p.H144Y	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	46	10	0	105	144						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				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)		TTGTGACAAACATCGCCCAAC	0.488000													1	1	1	1	1	1	1.000000	47	10	0	107	0	0	1	0	0	107	5
PTPRG	5793	broad.mit.edu	37	3	62259445	62259445	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:62259445C>T	ENST00000474889.1	+	23	3768	c.3391C>T	c.(3391-3393)Cag>Tag	p.Q1131*	PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Q1102*|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	27	9	0	82	1131					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATCTTCAAATCAGCTGCACAG	0.413000													1	1	1	1	1	1	1.000000	27	9	0	90	0	0	1	0	0	90	5
EPHB1	2047	broad.mit.edu	37	3	134670683	134670683	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:134670683C>A	ENST00000398015.3	+	3	964	c.594C>A	c.(592-594)agC>agA	p.S198R	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	71	77	0	209	198	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGTGTCCCAGCATTGTGCAAA	0.483000													1	1	1	1	1	1	1.000000	74	79	0	216	0	0	1	0	0	216	5
TRPC1	7220	broad.mit.edu	37	3	142523431	142523431	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:142523431C>T	ENST00000273482.6	+	11	2402	c.2011C>T	c.(2011-2013)Cat>Tat	p.H671Y	TRPC1_ENST00000476941.1_Missense_Mutation_p.H705Y	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	11	60	0	49	705					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			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GATTTGCTCTCATACATCAAA	0.363000													1	1	1	1	1	1	0.999692	13	65	0	62	1	7.079865e-01	2	12	0	62	5
NLGN1	22871	broad.mit.edu	37	3	173998971	173998971	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:173998971A>T	ENST00000457714.1	+	7	2779	c.2350A>T	c.(2350-2352)Att>Ttt	p.I784F	NLGN1_ENST00000401917.3_Missense_Mutation_p.I824F|NLGN1_ENST00000361589.4_Missense_Mutation_p.I784F|NLGN1_ENST00000545397.1_Missense_Mutation_p.I784F	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	10	77	0	75	801					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			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CATTACAATGATTCCCAACAC	0.493000													1	1	1	1	1	1	0.997440	10	78	0	80	0	0	0	1	0	80	5
LSG1	55341	broad.mit.edu	37	3	194386954	194386954	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr3:194386954C>G	ENST00000265245.5	-	4	726	c.412G>C	c.(412-414)Gaa>Caa	p.E138Q		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	13	36	0	43	138					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	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)		CGTCTCCATTCTAGAAAGTTA	0.373000													1	1	1	1	1	1	0.999976	16	40	0	47	1	9.999125e-01	20	28	0	47	5
LDB2	9079	broad.mit.edu	37	4	16900019	16900019	+	Silent	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:16900019G>A	ENST00000502640.1	-	1	238	c.90C>T	c.(88-90)taC>taT	p.Y30Y	LDB2_ENST00000515064.1_Silent_p.Y30Y|LDB2_ENST00000441778.2_Silent_p.Y30Y|LDB2_ENST00000304523.5_Silent_p.Y30Y			O43679	LDB2_HUMAN	LIM domain binding 2	5	35	0	61	30							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CATAGATTCGGTACTCTGGCT	0.453000													1	0	1	1	1	1	0.941700	5	36	0	69	1	6.595138e-01	2	15	0	69	4
FBXW7	0	broad.mit.edu	37	4	153249384	153249384	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:153249384C>T	ENST00000281708.4	-	9	2623	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	16	48	0	133	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	0.999985	17	55	0	144	0	2.532678e-01	1	3	0	144	5
SNX25	83891	broad.mit.edu	37	4	186263243	186263243	+	Silent	SNP	T	T	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:186263243T>C	ENST00000504273.1	+	12	1962	c.1668T>C	c.(1666-1668)ttT>ttC	p.F556F	SNX25_ENST00000264694.8_Silent_p.F556F|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	5	74	0	102	556	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		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)		TCAGCGAGTTTCAGAATTTAC	0.413000													1	0	1	1	0	1	0.939430	5	82	0	113	0	5.211443e-01	1	26	0	113	3
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:67589138G>A	ENST00000521381.1	+	10	1742	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	13	19	0	38	376	SH2 1.				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.G376R(5)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		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)	CAGGAAAGGGGGAAATAACAA	0.308000			Mis, F, O		gliobastoma, ovarian, colorectal					TCGA GBM(4;<1E-08)			1	1	1	1	1	1	0.999855	13	21	0	40	1	9.873404e-01	13	3	0	40	5
PCDHA10	0	broad.mit.edu	37	5	140237391	140237391	+	Silent	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:140237391G>A	ENST00000307360.5	+	1	1758	c.1758G>A	c.(1756-1758)gcG>gcA	p.A586A	PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1				61	53	0	90											NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGGTTGCGGGTCACGTGG	0.662000													1	0	1	1	1	1	1.000000	63	53	0	92	0	0	0	0	0	92	4
EBF1	1879	broad.mit.edu	37	5	158140122	158140122	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:158140122C>T	ENST00000313708.6	-	13	1507	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	EBF1_ENST00000517373.1_Missense_Mutation_p.E401K|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.E378K	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	7	34	0	43	409					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	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)			TACAGGGCCTCGGCAATGTCG	0.522000			T	HMGA2	lipoma								1	1	1	1	1	1	0.991705	8	36	0	46	1	4.062380e-01	2	5	0	46	5
HIST1H3E	8353	broad.mit.edu	37	6	26225539	26225539	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:26225539C>T	ENST00000360408.1	+	1	157	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	49	60	0	109	53					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GCGCGAGATCCGTCGCTACCA	0.627000													1	1	1	1	1	1	1.000000	50	64	0	115	1	9.225211e-01	4	4	0	115	5
LY6G5B	58496	broad.mit.edu	37	6	31639652	31639652	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:31639652C>T	ENST00000375864.4	+	3	983	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	LY6G5B_ENST00000409525.1_Missense_Mutation_p.R12C|CSNK2B-LY6G5B-1181_ENST00000375880.2_3'UTR	NM_021221.2	NP_067044.2	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex, locus G5B	31	45	0	65	67	UPAR/Ly6.					extracellular region				lung(4)	4						TGTCAAGGTTCGCTTCATCGT	0.507000													1	1	1	1	1	1	1.000000	33	53	0	70	1	9.990703e-01	12	10	0	70	5
BAK1	578	broad.mit.edu	37	6	33541652	33541652	+	Silent	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:33541652G>A	ENST00000374467.3	-	6	812	c.564C>T	c.(562-564)atC>atT	p.I188I	BAK1_ENST00000442998.2_3'UTR|BAK1_ENST00000360661.5_Silent_p.I188I	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	31	29	0	94	188					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GCACGTTCAGGATGGGACCAT	0.567000													1	1	1	1	1	1	1.000000	35	31	0	97	0	0	0	0	0	97	5
DEF6	50619	broad.mit.edu	37	6	35278356	35278356	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:35278356C>T	ENST00000316637.5	+	3	363	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	34	54	0	104	120						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGATGCCTTCCGCCTCTGGTG	0.532000													1	1	1	1	1	1	1.000000	39	58	0	116	1	9.984057e-01	10	9	0	116	5
EYA4	2070	broad.mit.edu	37	6	133834153	133834153	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr6:133834153A>G	ENST00000367895.5	+	16	1942	c.1478A>G	c.(1477-1479)aAc>aGc	p.N493S	EYA4_ENST00000355286.6_Missense_Mutation_p.N470S|EYA4_ENST00000525849.1_Missense_Mutation_p.N470S|EYA4_ENST00000355167.3_Missense_Mutation_p.N493S|EYA4_ENST00000452339.2_Missense_Mutation_p.N439S|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.N493S|EYA4_ENST00000430974.2_Missense_Mutation_p.N445S|EYA4_ENST00000531901.1_Missense_Mutation_p.N499S	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	16	20	0	47	493					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			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GAATTATATAACACCTACAAG	0.388000													1	1	1	1	1	1	0.999995	17	21	0	54	1	9.831357e-01	6	6	0	54	5
PCLO	27445	broad.mit.edu	37	7	82579349	82579349	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr7:82579349G>C	ENST00000423517.2	-	6	10892	c.10555C>G	c.(10555-10557)Caa>Gaa	p.Q3519E	PCLO_ENST00000437081.1_Missense_Mutation_p.Q239E|PCLO_ENST00000333891.8_Missense_Mutation_p.Q3519E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	16	26	0	40	3450					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTACCGTTTGAACTGCTATG	0.458000													1	1	1	1	1	1	0.999983	16	28	0	44	0	0	0	0	0	44	5
CCDC132	55610	broad.mit.edu	37	7	92905543	92905543	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr7:92905543C>T	ENST00000544910.1	+	13	998	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F	CCDC132_ENST00000541136.1_Missense_Mutation_p.L101F|CCDC132_ENST00000317751.6_Missense_Mutation_p.L21F|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000305866.5_Missense_Mutation_p.L290F|CCDC132_ENST00000251739.5_Missense_Mutation_p.L290F	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	23	42	0	62	290										endometrium(1)|large_intestine(2)|lung(5)	8	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)			TCAAGTTGTTCTTGGTTATGT	0.373000													1	1	1	1	1	1	1.000000	25	48	0	67	1	9.232940e-01	8	3	0	67	5
GPR37	2861	broad.mit.edu	37	7	124386977	124386977	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr7:124386977G>A	ENST00000303921.2	-	2	2094	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	29	31	0	75	482						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAATCTGCCGTTTATTCCCT	0.428000													1	1	1	1	1	1	1.000000	33	35	0	80	1	7.855489e-01	3	2	0	80	5
CSMD3	114788	broad.mit.edu	37	8	113697868	113697868	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr8:113697868G>A	ENST00000297405.5	-	15	2493	c.2249C>T	c.(2248-2250)aCg>aTg	p.T750M	CSMD3_ENST00000352409.3_Missense_Mutation_p.T750M|CSMD3_ENST00000343508.3_Missense_Mutation_p.T710M|CSMD3_ENST00000455883.2_Missense_Mutation_p.T646M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	36	45	0	99	750	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAGATTATCGTCCAGATGCA	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			1	1	1	1	1	1	1.000000	37	48	0	105	0	0	0	0	0	105	5
ZNF572	137209	broad.mit.edu	37	8	125989122	125989122	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr8:125989122T>G	ENST00000319286.5	+	3	766	c.612T>G	c.(610-612)atT>atG	p.I204M		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	9	92	0	104	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	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)			CCCATCTTATTATCCATGAGA	0.473000										HNSCC(60;0.17)			1	1	1	1	0	1	0.994886	9	97	0	108	0	4.826845e-02	0	4	0	108	4
FRMPD1	22844	broad.mit.edu	37	9	37745609	37745609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr9:37745609C>T	ENST00000539465.1	+	16	4173	c.3580C>T	c.(3580-3582)Cag>Tag	p.Q1194*	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Nonsense_Mutation_p.Q1194*			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	22	66	0	99	1194						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GCAAGGCTGCCAGGCTCAAGA	0.522000													1	1	1	1	1	1	1.000000	24	72	0	107	1	9.109506e-01	2	13	0	107	5
UBXN1	51035	broad.mit.edu	37	11	62445085	62445085	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:62445085G>C	ENST00000294119.2	-	7	687	c.556C>G	c.(556-558)Cag>Gag	p.Q186E	UBXN1_ENST00000524762.1_Intron|UBXN1_ENST00000533000.1_Missense_Mutation_p.Q44E|UBXN1_ENST00000301935.5_Missense_Mutation_p.Q186E|UBXN1_ENST00000529640.1_Missense_Mutation_p.Q182E	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	43	48	0	102	186	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			endometrium(5)|lung(12)	17						GGGGGTGGCTGAGAGCCCACA	0.547000													1	1	1	1	1	1	1.000000	45	52	0	104	1	1	360	553	0	104	5
TPCN2	219931	broad.mit.edu	37	11	68854003	68854003	+	Silent	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:68854003C>T	ENST00000294309.3	+	23	2117	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	TPCN2_ENST00000542467.1_Intron|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	32	8	0	76	672					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			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTCCAAGATCTATTTTGTAT	0.547000													1	1	1	1	1	1	1.000000	34	9	0	86	1	9.999993e-01	13	2	0	86	5
HEPHL1	341208	broad.mit.edu	37	11	93800731	93800731	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:93800731A>T	ENST00000315765.9	+	5	886	c.878A>T	c.(877-879)cAc>cTc	p.H293L		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	53	11	0	134	293	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTGTCCTGGCACCTATTTGGA	0.468000													1	1	1	1	1	1	1.000000	55	11	0	141	1	6.803069e-01	2	0	0	141	5
GLB1L3	112937	broad.mit.edu	37	11	134179592	134179592	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr11:134179592C>G	ENST00000431683.2	+	11	1034	c.1034C>G	c.(1033-1035)aCc>aGc	p.T345S		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	5	4	0	19	345					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	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)		CATGGTGGAACCAACTTTGGT	0.468000													1	0	1	1	0	1	0.960109	5	4	0	21	0	0	0	0	0	21	3
CHD4	1108	broad.mit.edu	37	12	6700659	6700659	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:6700659G>A	ENST00000309577.6	-	22	3476	c.3313C>T	c.(3313-3315)Cgg>Tgg	p.R1105W	CHD4_ENST00000544040.1_Missense_Mutation_p.R1098W|CHD4_ENST00000544484.1_Missense_Mutation_p.R1102W|CHD4_ENST00000357008.2_Missense_Mutation_p.R1105W			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	31	37	0	76	1105	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|zinc ion binding	p.R1105W(1)		central_nervous_system(2)	2						GCCTCTTGCCGCATGTTCCCA	0.433000													1	1	1	1	1	1	1.000000	32	37	0	80	1	1	110	123	0	80	5
KMT2D	8085	broad.mit.edu	37	12	49434535	49434535	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:49434535G>A	ENST00000301067.7	-	31	7017	c.7018C>T	c.(7018-7020)Ccc>Tcc	p.P2340S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	15	19	0	38																		GGGCTCTGGGGCTCTACCTGA	0.632000													1	1	1	1	1	1	0.999996	17	19	0	42	0	2.307692e-01	1	1	0	42	5
HOXC13	3229	broad.mit.edu	37	12	54333359	54333359	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:54333359G>C	ENST00000243056.3	+	1	825	c.669G>C	c.(667-669)tgG>tgC	p.W223C	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	11	24	0	35	223						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						CCAATGGCTGGGACAGTCAGG	0.682000			T	NUP98	AML								1	1	1	1	0	1	0.999814	13	28	0	41	1	9.999855e-01	17	40	0	41	4
HELB	92797	broad.mit.edu	37	12	66725099	66725099	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr12:66725099C>T	ENST00000247815.4	+	12	2895	c.2836C>T	c.(2836-2838)Cgt>Tgt	p.R946C		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	9	50	0	60	946					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TAGAAAAACTCGTTTGAAACA	0.527000													1	1	1	1	1	1	0.997681	10	52	0	62	0	3.440149e-01	0	7	0	62	5
PDIA3	2923	broad.mit.edu	37	15	44048891	44048891	+	Silent	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr15:44048891C>T	ENST00000300289.5	+	3	439	c.291C>T	c.(289-291)gtC>gtT	p.V97V	PDIA3_ENST00000469684.1_3'UTR|PDIA3_ENST00000538521.1_Silent_p.V77V	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	22	36	0	74	97	Thioredoxin 1.				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			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		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)		AATATGGAGTCAGTGGATATC	0.393000													1	1	1	1	1	1	1.000000	23	40	0	76	1	1	120	179	0	76	5
TELO2	9894	broad.mit.edu	37	16	1544439	1544439	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:1544439G>A	ENST00000262319.6	+	2	436	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	72	64	0	214	53						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGAGAAGGAGGAGTTTGCCTC	0.647000											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	82	69	0	228	1	1	27	13	0	228	5
ZFHX3	463	broad.mit.edu	37	16	72992232	72992232	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:72992232G>T	ENST00000268489.5	-	2	2485	c.1813C>A	c.(1813-1815)Cca>Aca	p.P605T	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	15	41	0	66	605					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			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTTCATTTGGTTCTGGTGCT	0.602000													1	1	1	1	1	1	0.999975	16	41	0	68	0	0	0	0	0	68	5
GINS2	51659	broad.mit.edu	37	16	85721095	85721095	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:85721095C>T	ENST00000253462.3	-	2	276	c.176G>A	c.(175-177)cGc>cAc	p.R59H		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	43	39	0	159	59					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						AGGGAGCAGGCGACATTTCTG	0.577000													1	1	1	1	1	1	1.000000	48	44	0	178	1	1	56	28	0	178	5
ZC3H18	124245	broad.mit.edu	37	16	88677691	88677691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr16:88677691C>T	ENST00000301011.5	+	8	1422	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R432*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	15	10	0	38	408						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ggagcgggagcgagagagaga	0.642000													1	1	1	1	1	1	0.999989	15	11	0	41	0	9.947239e-01	1	10	0	41	5
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	24	4	0	67	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	25	4	0	75	1	1	148	5	0	75	5
TMEM132E	124842	broad.mit.edu	37	17	32964455	32964455	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr17:32964455G>A	ENST00000321639.5	+	10	2487	c.2159G>A	c.(2158-2160)cGg>cAg	p.R720Q		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	33	5	0	68	720						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTGGGCCTGCGGGTGCACTTT	0.682000													1	1	1	1	1	1	1.000000	33	6	0	71	1	9.160522e-01	3	0	0	71	5
RECQL5	9400	broad.mit.edu	37	17	73661200	73661200	+	Silent	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr17:73661200G>A	ENST00000420326.2	-	3	342	c.183C>T	c.(181-183)tgC>tgT	p.C61C	RECQL5_ENST00000584999.1_Silent_p.C61C|RECQL5_ENST00000317905.5_Silent_p.C61C|RECQL5_ENST00000423245.2_Intron|RECQL5_ENST00000340830.5_Silent_p.C61C	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	84	95	0	174	61	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	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)			GGAGCTGATAGCATAGGGATT	0.473000								Other identified genes with known or suspected DNA repair function					1	1	1	1	1	1	1.000000	88	101	0	185	1	9.999992e-01	18	12	0	185	5
SALL3	27164	broad.mit.edu	37	18	76756943	76756943	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr18:76756943G>A	ENST00000536229.3	+	3	3618	c.2909G>A	c.(2908-2910)cGc>cAc	p.R970H	SALL3_ENST00000575389.2_Missense_Mutation_p.R1103H|SALL3_ENST00000537592.2_Missense_Mutation_p.R1175H			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	14	17	0	47	1175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		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)		CGCGGCCGCCGCCTGTCTGTG	0.612000													1	1	1	1	1	1	0.999947	14	18	0	50	0	0	0	0	0	50	5
MLLT1	4298	broad.mit.edu	37	19	6230661	6230661	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr19:6230661C>T	ENST00000252674.7	-	4	503	c.340G>A	c.(340-342)Gtg>Atg	p.V114M		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	109	17	0	270	114					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	p.V114M(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGGTGGTTCACGGGCGGGTTG	0.612000			T	MLL	AL								1	1	1	1	1	1	1.000000	124	19	0	299	1	1	37	0	0	299	5
ZNF333	84449	broad.mit.edu	37	19	14817512	14817512	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr19:14817512T>A	ENST00000601134.1	+	5	377	c.259T>A	c.(259-261)Tat>Aat	p.Y87N	ZNF333_ENST00000540689.2_Silent_p.A146A|ZNF333_ENST00000292530.6_Silent_p.A146A|ZNF333_ENST00000536363.1_Silent_p.A37A			Q96JL9	ZN333_HUMAN	zinc finger protein 333	38	7	0	77	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TGAAGGCCGCTATGCAGATTC	0.572000													1	1	1	1	1	1	1.000000	38	7	0	87	1	9.995436e-01	7	0	0	87	5
TNFRSF6B	8771	broad.mit.edu	37	20	62329741	62329741	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr20:62329741G>A	ENST00000369996.1	+	3	828	c.728G>A	c.(727-729)gGt>gAt	p.G243D	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	12	8	0	29	243					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	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)			GAGGGCTGGGGTCCGACACCA	0.706000													1	1	1	1	0	1	0.999980	14	9	0	29	1	1	46	37	0	29	4
PRICKLE3	4007	broad.mit.edu	37	X	49032095	49032095	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:49032095G>T	ENST00000376317.3	-	9	1869	c.1775C>A	c.(1774-1776)tCt>tAt	p.S592Y	PRICKLE3_ENST00000540849.1_Missense_Mutation_p.S524Y|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.S511Y|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.S416Y	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	159	272	0	101	592							protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						GAGCGATAAAGATGGGGAGTT	0.612000													1	0	1	1	1	1	1.000000	168	288	0	108	1	1	78	195	0	108	4
PRICKLE3	4007	broad.mit.edu	37	X	49032106	49032106	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:49032106G>T	ENST00000376317.3	-	9	1858	c.1764C>A	c.(1762-1764)ttC>ttA	p.F588L	PRICKLE3_ENST00000540849.1_Missense_Mutation_p.F520L|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.F507L|PRICKLE3_ENST00000538114.1_Missense_Mutation_p.F412L	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	166	293	0	116	588							protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						ATGGGGAGTTGAAGGTCTCCA	0.592000													1	1	1	1	1	1	1.000000	178	311	0	124	1	1	83	233	0	124	5
PRICKLE3	4007	broad.mit.edu	37	X	49033341	49033341	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:49033341G>T	ENST00000376317.3	-	8	1260	c.1166C>A	c.(1165-1167)gCc>gAc	p.A389D	PRICKLE3_ENST00000540849.1_Missense_Mutation_p.A321D|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.A308D|PRICKLE3_ENST00000538114.1_Intron	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	54	76	0	25	389				Missing (in Ref. 5; AAB92357).			protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TGCAAGTGGGGCTGTGACAGG	0.647000													1	1	1	1	1	1	1.000000	57	81	0	25	1	1	57	146	0	25	5
KLHL4	0	broad.mit.edu	37	X	86887422	86887422	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:86887422C>T	ENST00000373119.4	+	7	1682	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	KLHL4_ENST00000373114.4_Missense_Mutation_p.R513W	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	6	18	0	36	513						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GTCAACACATCGGCACGGCTT	0.368000													1	0	1	1	0	1	0.971721	6	19	0	42	0	3.850369e-01	0	5	0	42	3
PNMA3	29944	broad.mit.edu	37	X	152226673	152226673	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chrX:152226673G>A	ENST00000447306.1	+	2	1597	c.1261G>A	c.(1261-1263)Ggc>Agc	p.G421S	PNMA3_ENST00000370264.4_Missense_Mutation_p.G421S|PNMA3_ENST00000370265.4_Missense_Mutation_p.G421S	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	74	114	0	220	421					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGAAGACGGCCACATCAG	0.572000													1	1	1	1	1	1	1.000000	76	120	0	230	0	9.999993e-01	0	39	0	230	5
TRIM2	23321	broad.mit.edu	37	4	154237041	154237042	+	In_Frame_Ins	INS	-	-	GGCAGCTGC			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr4:154237041_154237042insGGCAGCTGC	ENST00000338700.5	+	8	1737_1738	c.1672_1673insGGCAGCTGC	c.(1672-1674)gca>GGCAGCTGCgca	p.557_558insGSC	TRIM2_ENST00000437508.2_In_Frame_Ins_p.530_531insGSC	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	11	48	0	103	530						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		ACGCTCTCCGGGGCAGCTGCAG	0.470000													1	1	1	1	0	1	0.998786	11	60	0	105	0	1.333362e-01	0	4	0	105	4
PIK3R1	5295	broad.mit.edu	37	5	67592085	67592086	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:67592085_67592086insT	ENST00000521381.1	+	15	2517_2518	c.1901_1902insT	c.(1900-1902)ggafs	p.G634fs	PIK3R1_ENST00000523872.1_Frame_Shift_Ins_p.G271fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.G642fs|PIK3R1_ENST00000320694.8_Frame_Shift_Ins_p.G334fs|PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.G634fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.G634fs|PIK3R1_ENST00000336483.5_Frame_Shift_Ins_p.G364fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	43	39	0	95	634	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.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		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)	CGAAACAAAGCTGAAAACCTGT	0.485000			Mis, F, O		gliobastoma, ovarian, colorectal					TCGA GBM(4;<1E-08)			1	1	1	1	0	1	1.000000	43	82	0	96	1	9.999796e-01	7	30	0	96	4
CNOT6	57472	broad.mit.edu	37	5	179998267	179998268	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			AA	-	AA	AA		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr5:179998267_179998268delAA	ENST00000393356.1	+	13	1720_1721	c.1296_1297delAA	c.(1294-1299)acatfs	p.TN432fs	CNOT6_ENST00000261951.4_Frame_Shift_Del_p.TN432fs			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	24	21	0	58	432					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			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	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)		GAGTAGAAACAAATCACAAAGA	0.332000													1	1	1	1	0	1	1.000000	24	45	0	59	1	9.991279e-01	6	20	0	59	4
TIAL1	7073	broad.mit.edu	37	10	121337193	121337194	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N5-A4RD-01A-11D-A28R-08	TCGA-N5-A4RD-10A-01D-A28U-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5fe34f43-2bce-4a6d-ad0d-7e577ba98ed5	cd3a0e8f-8fe3-42bb-9c1e-d7191c8f1ab9	g.chr10:121337193_121337194insT	ENST00000369092.4	-	9	1550_1551	c.242_243insA	c.(241-243)atgfs	p.M81fs	TIAL1_ENST00000436547.2_Frame_Shift_Ins_p.M204fs|TIAL1_ENST00000369093.2_Frame_Shift_Ins_p.M221fs			Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	41	54	0	90	204	RRM 1.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		ACACAGTACAATTTTTTGGACT	0.366000													1	1	0	1	0	1	1.000000	41	95	0	93	1	1	25	159	0	93	3
ARID1A	8289	broad.mit.edu	37	1	27057894	27057894	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:27057894C>G	ENST00000324856.7	+	3	1973	c.1602C>G	c.(1600-1602)taC>taG	p.Y534*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y534*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Y151*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	230	311	0	386	534					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		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		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)		CGGCTCCATACCCCTCCCAGC	0.632000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC								1	1	1	1	1	1	1.000000	239	334	0	404	1	6.914705e-01	2	3	0	404	5
SCP2	6342	broad.mit.edu	37	1	53416540	53416540	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:53416540C>G	ENST00000371514.3	+	4	481	c.313C>G	c.(313-315)Cgc>Ggc	p.R105G	SCP2_ENST00000528311.1_Missense_Mutation_p.R24G|SCP2_ENST00000407246.2_Missense_Mutation_p.R81G|SCP2_ENST00000371509.4_Intron|SCP2_ENST00000371513.5_Intron	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	57	32	0	131	105					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)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GTTTATGGCCCGCCAGCTGAT	0.403000													1	1	1	1	1	1	1.000000	61	33	0	146	0	9.389443e-01	1	4	0	146	5
KCND3	3752	broad.mit.edu	37	1	112319736	112319736	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:112319736A>G	ENST00000369697.1	-	5	1690	c.1621T>C	c.(1621-1623)Tct>Cct	p.S541P	KCND3_ENST00000315987.2_Missense_Mutation_p.S560P|KCND3_ENST00000302127.4_Missense_Mutation_p.S541P			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	15	71	0	94	560						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		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)		GGCAGGTTAGAATTGGGCAGG	0.592000													1	1	1	1	1	1	0.999923	15	72	0	96	0	0	0	0	0	96	5
CD247	919	broad.mit.edu	37	1	167400923	167400923	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:167400923G>A	ENST00000392122.3	-	8	631	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	CD247_ENST00000362089.5_Missense_Mutation_p.R164C|CD247_ENST00000483825.1_5'UTR	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	16	93	0	131	164					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			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			GGCTGTTAGCGAGGGGGCAGG	0.537000													1	1	1	1	1	1	0.999977	17	105	0	141	0	0	0	0	0	141	5
DARS2	55157	broad.mit.edu	37	1	173810047	173810047	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:173810047T>G	ENST00000361951.4	+	11	1791	c.1064T>G	c.(1063-1065)tTt>tGt	p.F355C	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	11	47	0	54	355					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GAGATTGGATTTCTTCAAGAT	0.338000													1	1	1	1	1	1	0.999710	13	57	0	58	0	6.873767e-01	1	11	0	58	5
FAM71A	149647	broad.mit.edu	37	1	212798594	212798594	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:212798594G>A	ENST00000294829.3	+	1	806	c.375G>A	c.(373-375)agG>agA	p.R125R	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	19	105	0	108	125										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TGCCCCTGAGGTTTGTACGGA	0.527000													1	0	1	1	0	1	0.999994	19	114	0	115	0	0	0	0	0	115	3
RGS7	6000	broad.mit.edu	37	1	241094033	241094033	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:241094033C>T	ENST00000366565.1	-	6	750	c.369G>A	c.(367-369)ccG>ccA	p.P123P	RGS7_ENST00000446183.2_Silent_p.P39P|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000331110.7_Silent_p.P97P|RGS7_ENST00000407727.1_Silent_p.P123P|RGS7_ENST00000366563.1_Silent_p.P123P|RGS7_ENST00000366562.4_Silent_p.P123P|RGS7_ENST00000366564.1_Silent_p.P123P|RGS7_ENST00000348120.2_Intron	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	115	41	0	192	123					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			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTGTGTTTTCCGGCTCCCAAC	0.388000													1	1	1	1	1	1	1.000000	128	42	0	209	0	0	0	0	0	209	5
TRMT61B	55006	broad.mit.edu	37	2	29084138	29084138	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr2:29084138C>T	ENST00000306108.5	-	3	862	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	TRMT61B_ENST00000484060.1_5'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	9	33	0	48	280							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GTGGTCTTTTCGTACCTCAAA	0.318000													0	0	1	0	0	1	0.995878	9	35	0	50	1	3.849639e-01	3	3	0	50	1
ZSWIM2	151112	broad.mit.edu	37	2	187702052	187702052	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr2:187702052T>C	ENST00000295131.2	-	5	763	c.724A>G	c.(724-726)Att>Gtt	p.I242V		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	69	17	0	95	242					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TTCCCCTCAATTGGAAACTGT	0.368000													1	1	1	1	1	1	1.000000	75	19	0	104	0	0	0	0	0	104	5
TTC21A	199223	broad.mit.edu	37	3	39150702	39150702	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:39150702G>T	ENST00000301819.6	+	2	331	c.154G>T	c.(154-156)Gaa>Taa	p.E52*	TTC21A_ENST00000431162.2_Nonsense_Mutation_p.E52*|TTC21A_ENST00000440121.1_Nonsense_Mutation_p.E52*	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	31	4	0	55	52							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGTCCTCAAAGAAGGTAAGGA	0.502000													1	1	1	1	1	1	1.000000	31	4	0	60	0	0	0	0	0	60	5
ROBO2	6092	broad.mit.edu	37	3	77542517	77542517	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:77542517G>C	ENST00000461745.1	+	5	1690	c.790G>C	c.(790-792)Gac>Cac	p.D264H	ROBO2_ENST00000332191.8_Missense_Mutation_p.D264H|ROBO2_ENST00000487694.3_Missense_Mutation_p.D280H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	43	6	0	59	264	Ig-like C2-type 3.				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			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				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)		GGATGATGCAGACTTGCCAAG	0.418000													1	1	1	1	1	1	1.000000	47	6	0	63	0	0	1	0	0	63	5
ALCAM	214	broad.mit.edu	37	3	105258906	105258906	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:105258906A>G	ENST00000306107.5	+	7	1318	c.818A>G	c.(817-819)aAt>aGt	p.N273S	ALCAM_ENST00000472644.2_Missense_Mutation_p.N273S|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.N222S	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	40	8	0	102	273	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGCTTAGGGAATGGCAACCCT	0.398000													1	1	1	1	1	1	1.000000	41	8	0	111	0	0	1	0	0	111	5
TNIK	23043	broad.mit.edu	37	3	170802094	170802094	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:170802094G>T	ENST00000436636.2	-	26	3363	c.3019C>A	c.(3019-3021)Ctt>Att	p.L1007I	TNIK_ENST00000470834.1_Missense_Mutation_p.L970I|TNIK_ENST00000488470.1_Missense_Mutation_p.L952I|TNIK_ENST00000284483.8_Missense_Mutation_p.L999I|TNIK_ENST00000460047.1_Missense_Mutation_p.L944I|TNIK_ENST00000538048.1_Missense_Mutation_p.L959I|TNIK_ENST00000369326.5_Missense_Mutation_p.L985I|TNIK_ENST00000357327.5_Missense_Mutation_p.L978I|TNIK_ENST00000341852.6_Missense_Mutation_p.L923I|TNIK_ENST00000475336.1_Missense_Mutation_p.L915I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	67	16	0	99	1007	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			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	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)			TCTTGCCTAAGAAGTTCGCTA	0.398000													1	1	1	1	1	1	1.000000	79	19	0	112	1	6.415842e-01	2	0	0	112	5
PIK3CA	5290	broad.mit.edu	37	3	178916930	178916930	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr3:178916930G>T	ENST00000263967.3	+	2	474	c.317G>T	c.(316-318)gGc>gTc	p.G106V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	33	11	0	93	106	PI3K-ABD.		G -> V (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.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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)			GAACCAGTAGGCAACCGTGAA	0.348000		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	37	11	0	104	0	0	1	0	0	104	5
TRMT10A	93587	broad.mit.edu	37	4	100470301	100470301	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr4:100470301C>G	ENST00000273962.3	-	8	1276	c.964G>C	c.(964-966)Gaa>Caa	p.E322Q	TRMT10A_ENST00000394877.3_Missense_Mutation_p.E322Q|TRMT10A_ENST00000394876.2_Missense_Mutation_p.E322Q	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)	10	61	0	93																		TCCTGCTTTTCTTCATGTGGT	0.403000													1	1	1	1	1	1	0.997524	10	67	0	94	1	2.025777e-01	2	4	0	94	5
ADCY2	108	broad.mit.edu	37	5	7727300	7727300	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:7727300G>A	ENST00000338316.4	+	14	1886	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A	ADCY2_ENST00000537121.1_Silent_p.A419A|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	25	44	0	62	599					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			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CACTGCCAGCGTTCAAGTATT	0.502000													1	1	1	1	1	1	1.000000	29	48	0	69	0	0	0	0	0	69	5
SEMA5A	9037	broad.mit.edu	37	5	9052093	9052093	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:9052093C>T	ENST00000382496.5	-	20	3402	c.2737G>A	c.(2737-2739)Gtc>Atc	p.V913I		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	6	16	0	24	913	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CGGACTTGGACGCCAGAGGCT	0.602000													1	1	1	1	1	1	0.972347	6	17	0	24	0	3.179487e-01	0	4	0	24	5
SEMA5A	9037	broad.mit.edu	37	5	9202131	9202131	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:9202131C>T	ENST00000382496.5	-	9	1533	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	20	40	0	73	290	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.E290K(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTCTGCAATTCGTTGTAGTAA	0.478000													1	1	1	1	1	1	1.000000	21	46	0	77	0	1.047619e-01	1	1	0	77	5
CMYA5	202333	broad.mit.edu	37	5	79025483	79025483	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:79025483G>T	ENST00000446378.2	+	2	926	c.895G>T	c.(895-897)Gtt>Ttt	p.V299F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	16	44	0	90	299						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		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)		AGTAAAAGAGGTTTTTCCACC	0.408000													1	1	1	1	1	1	0.999999	20	48	0	101	0	0	0	0	0	101	5
PCDHA2	0	broad.mit.edu	37	5	140176607	140176607	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:140176607C>T	ENST00000526136.1	+	1	2058	c.2058C>T	c.(2056-2058)gcC>gcT	p.A686A	PCDHA2_ENST00000520672.2_Silent_p.A686A|PCDHA2_ENST00000378132.1_Silent_p.A686A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1				66	113	0	227											NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGGCGCCGCGGGCTCAG	0.642000													1	1	1	1	1	1	1.000000	71	124	0	241	0	0	0	0	0	241	5
PCDHA7	0	broad.mit.edu	37	5	140216127	140216127	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:140216127C>T	ENST00000525929.1	+	1	2159	c.2159C>T	c.(2158-2160)gCg>gTg	p.A720V	PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A720V|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1				70	45	0	159											NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTACACGGCGTTGCGGTGC	0.617000													1	1	1	1	1	1	1.000000	73	47	0	166	0	6.561891e-01	0	3	0	166	5
GRIA1	0	broad.mit.edu	37	5	153149914	153149914	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr5:153149914G>A	ENST00000285900.5	+	13	2552	c.2209G>A	c.(2209-2211)Gtg>Atg	p.V737M	GRIA1_ENST00000521843.2_Missense_Mutation_p.V668M|GRIA1_ENST00000518142.1_Missense_Mutation_p.V657M|GRIA1_ENST00000448073.4_Missense_Mutation_p.V747M|GRIA1_ENST00000340592.5_Missense_Mutation_p.V737M|GRIA1_ENST00000518783.1_Missense_Mutation_p.V747M	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	22	41	0	74	737					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			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		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)	CACCATGAAGGTGGGAGGTAA	0.502000													1	1	1	1	1	1	1.000000	24	43	0	82	0	0	0	0	0	82	5
MOCS1	4337	broad.mit.edu	37	6	39883911	39883911	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:39883911G>A	ENST00000373186.4	-	3	621	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	MOCS1_ENST00000340692.5_Missense_Mutation_p.R162W|MOCS1_ENST00000308559.7_Missense_Mutation_p.R162W|MOCS1_ENST00000373195.3_Missense_Mutation_p.R75W|MOCS1_ENST00000373188.2_Missense_Mutation_p.R162W|MOCS1_ENST00000432280.2_Missense_Mutation_p.R133W|MOCS1_ENST00000425303.2_Missense_Mutation_p.R162W|MOCS1_ENST00000373175.4_Missense_Mutation_p.R133W	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	15	30	0	21	162	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCAGTAGCCGGGCCAGGTTG	0.572000													1	1	1	1	1	1	0.999956	15	33	0	22	1	3.843251e-01	2	2	0	22	5
EFHC1	114327	broad.mit.edu	37	6	52318996	52318996	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:52318996G>A	ENST00000371068.5	+	5	930	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	EFHC1_ENST00000433625.2_Missense_Mutation_p.R185Q|EFHC1_ENST00000538167.1_Missense_Mutation_p.R257Q	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	26	92	0	92	276	DM10 2.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GTGGAAATTCGAGAGGTCCAC	0.443000													1	1	1	1	1	1	1.000000	27	96	0	98	0	2.207539e-01	0	4	0	98	5
RIMS1	0	broad.mit.edu	37	6	72892710	72892710	+	Silent	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:72892710C>A	ENST00000264839.7	+	6	1536	c.1536C>A	c.(1534-1536)tcC>tcA	p.S512S	RIMS1_ENST00000522291.1_Silent_p.S512S|RIMS1_ENST00000348717.5_Silent_p.S512S|RIMS1_ENST00000517960.1_Silent_p.S512S|RIMS1_ENST00000518273.1_Silent_p.S512S|RIMS1_ENST00000491071.2_Silent_p.S512S|RIMS1_ENST00000521978.1_Silent_p.S512S|RIMS1_ENST00000520567.1_Silent_p.S512S			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	8	11	0	20	512					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			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TGCGGCCGTCCCCGCCCAAGC	0.662000													1	1	0	1	0	1	0.997656	9	11	0	22	0	0	0	0	0	22	3
INTS1	26173	broad.mit.edu	37	7	1527374	1527374	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:1527374C>T	ENST00000389470.4	-	20	2921	c.2922G>A	c.(2920-2922)ccG>ccA	p.P974P	INTS1_ENST00000404767.3_Intron			Q8N201	INT1_HUMAN	integrator complex subunit 1	15	9	0	38	839					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGCGCAGGGCGGGGCTGTGT	0.687000													1	1	1	1	1	1	0.999997	16	9	0	41	1	9.998542e-01	16	0	0	41	5
ICA1	3382	broad.mit.edu	37	7	8258022	8258022	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:8258022C>T	ENST00000402384.3	-	6	758	c.492G>A	c.(490-492)acG>acA	p.T164T	ICA1_ENST00000422063.2_Silent_p.T164T|ICA1_ENST00000407906.1_Silent_p.T164T|ICA1_ENST00000265577.7_Silent_p.T163T|ICA1_ENST00000401396.1_Silent_p.T152T|ICA1_ENST00000406470.2_Silent_p.T164T|ICA1_ENST00000396675.3_Silent_p.T164T			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	40	72	0	152	164	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CTCTATATTCCGTCCTGCACT	0.478000													1	0	1	1	1	1	1.000000	43	76	0	158	1	9.420649e-01	3	8	0	158	4
NAT16	375607	broad.mit.edu	37	7	100815486	100815486	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:100815486G>A	ENST00000300303.2	-	4	1222	c.984C>T	c.(982-984)aaC>aaT	p.N328N	NAT16_ENST00000455377.1_Silent_p.N328N	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	16	37	0	67	328							N-acetyltransferase activity										GGCACATGACGTTGAGGCCAA	0.642000													1	1	1	1	1	1	0.999977	16	39	0	69	0	0	0	0	0	69	5
RELN	5649	broad.mit.edu	37	7	103281026	103281026	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:103281026C>A	ENST00000424685.2	-	17	2192	c.2033G>T	c.(2032-2034)tGt>tTt	p.C678F	RELN_ENST00000343529.5_Missense_Mutation_p.C678F|RELN_ENST00000428762.1_Missense_Mutation_p.C678F			P78509	RELN_HUMAN	reelin	15	8	0	45	678	EGF-like 1.				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			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTGCCAGAACAGAATTTGAG	0.368000													1	1	1	1	1	1	0.999997	16	9	0	53	0	0	0	0	0	53	5
RELN	5649	broad.mit.edu	37	7	103301887	103301887	+	Missense_Mutation	SNP	C	C	A	rs73712207	byFrequency	TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:103301887C>A	ENST00000424685.2	-	12	1536	c.1377G>T	c.(1375-1377)agG>agT	p.R459S	RELN_ENST00000343529.5_Missense_Mutation_p.R459S|RELN_ENST00000428762.1_Missense_Mutation_p.R459S			P78509	RELN_HUMAN	reelin	10	35	0	57	459					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			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGCATAATTTCCTCTCTCCAT	0.428000													1	1	0	1	1	1	0.997930	10	37	0	67	0	0	0	0	0	67	4
C7orf49	78996	broad.mit.edu	37	7	134853626	134853626	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:134853626G>A	ENST00000430372.1	-	2	330	c.5C>T	c.(4-6)gCt>gTt	p.A2V	C7orf49_ENST00000459937.1_5'UTR|C7orf49_ENST00000393114.3_Silent_p.L17L|C7orf49_ENST00000483029.2_Intron|C7orf49_ENST00000424142.1_5'UTR	NM_001243751.1|NM_024033.3	NP_001230680.1|NP_076938.2	Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	42	57	0	130	0						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TGGGCTGTCAGCCATGAGGGA	0.527000											OREG0018340	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1	1	1	1	1.000000	44	60	0	132	1	1	20	33	0	132	4
NUP205	23165	broad.mit.edu	37	7	135323338	135323338	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr7:135323338C>T	ENST00000285968.6	+	38	5325	c.5299C>T	c.(5299-5301)Ctc>Ttc	p.L1767F		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	37	94	0	108	1767					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGCCAGTCACTCATGTTACA	0.408000													1	1	1	1	1	1	1.000000	38	106	0	117	1	9.999854e-01	19	34	0	117	5
WWP1	11059	broad.mit.edu	37	8	87454894	87454894	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr8:87454894T>C	ENST00000517970.1	+	18	2192	c.1885T>C	c.(1885-1887)Tgc>Cgc	p.C629R	WWP1_ENST00000349423.2_Missense_Mutation_p.C411R|WWP1_ENST00000265428.4_Missense_Mutation_p.C629R|WWP1_ENST00000341922.2_Missense_Mutation_p.C499R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	3	36	0	31	629	HECT.				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			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CCCAATGTATTGCTTATTTGA	0.323000													0	0	1	0	0	1	0.812658	3	36	0	31	1	3.248499e-01	3	9	0	31	1
PLEC	5339	broad.mit.edu	37	8	144999757	144999757	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr8:144999757C>T	ENST00000322810.4	-	31	4920	c.4751G>A	c.(4750-4752)cGg>cAg	p.R1584Q	PLEC_ENST00000354958.2_Missense_Mutation_p.R1425Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1447Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1470Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1415Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1447Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1451Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1433Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1474Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	24	2	0	23	1584	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GATGCGCAGCCGGCTGCGCTC	0.711000													1	1	1	1	0	1	1.000000	25	2	0	25	1	9.995732e-01	3	3	0	25	4
ELAVL2	1993	broad.mit.edu	37	9	23762158	23762158	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr9:23762158A>C	ENST00000397312.2	-	2	349	c.75T>G	c.(73-75)tgT>tgG	p.C25W	ELAVL2_ENST00000380110.4_Missense_Mutation_p.C54W|ELAVL2_ENST00000544538.1_Missense_Mutation_p.C25W|ELAVL2_ENST00000380117.1_Missense_Mutation_p.C25W|ELAVL2_ENST00000223951.6_Missense_Mutation_p.C25W	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	8	180	0	176	25					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CTGGTGACGAACAGTTGTTGT	0.438000													1	1	1	1	0	1	0.998464	11	203	0	186	0	0	0	0	0	186	4
HKDC1	80201	broad.mit.edu	37	10	71007270	71007270	+	Missense_Mutation	SNP	C	C	T	rs139689016		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr10:71007270C>T	ENST00000354624.5	+	9	1319	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C	HKDC1_ENST00000395086.2_Missense_Mutation_p.R396C|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	12	67	0	82	396					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CATCCTGACACGCCTCCGGGA	0.607000													1	1	1	1	1	1	0.999356	12	72	0	85	1	6.632142e-01	3	12	0	85	5
PTEN	5728	broad.mit.edu	37	10	89720877	89720877	+	Splice_Site	SNP	T	T	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr10:89720877T>G	ENST00000371953.3	+	8	2383		c.e8+2		PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	7	30	0	45						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.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.?(1)|p.G165_*404del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		AATTTTAAGGTCAGTTAAATT	0.323000		31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	1	1	1	1	1	0.992009	8	31	0	50	1	9.935803e-01	41	0	0	50	5
GPAM	57678	broad.mit.edu	37	10	113928673	113928673	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr10:113928673G>A	ENST00000348367.4	-	10	1029	c.832C>T	c.(832-834)Cga>Tga	p.R278*	GPAM_ENST00000369425.1_Nonsense_Mutation_p.R278*|GPAM_ENST00000423155.1_Nonsense_Mutation_p.R278*			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	32	16	0	57	278					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TCGAGCCTTCGTCGTATGAAG	0.378000													1	1	1	1	1	1	1.000000	34	17	0	63	0	0	0	0	0	63	5
SCGB1D2	10647	broad.mit.edu	37	11	62009833	62009833	+	Splice_Site	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr11:62009833G>T	ENST00000244926.3	+	1	152	c.55_splice	c.e1+1	p.Q18_splice	RP11-703H8.9_ENST00000529875.1_RNA	NM_006551.3	NP_006542.1	O95969	SG1D2_HUMAN	secretoglobin, family 1D, member 2	24	38	0	85	18						extracellular space	binding			breast(1)|endometrium(1)|lung(1)	3						GCTGCTACCAGGGTGAGTACA	0.537000													1	1	1	1	1	1	1.000000	24	42	0	91	0	0	0	0	0	91	5
TTC12	54970	broad.mit.edu	37	11	113222820	113222820	+	Missense_Mutation	SNP	C	C	T	rs147647661		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr11:113222820C>T	ENST00000393020.1	+	16	1742	c.1337C>T	c.(1336-1338)tCg>tTg	p.S446L	TTC12_ENST00000483239.2_Missense_Mutation_p.S452L|TTC12_ENST00000529221.1_Missense_Mutation_p.S446L|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000314756.3_Missense_Mutation_p.S446L			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	12	19	0	41	446							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		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)		AGCAGCTCCTCGGCTCTGTGC	0.542000													1	1	1	1	1	1	0.999940	14	20	0	41	1	9.201098e-01	3	6	0	41	5
WNK1	65125	broad.mit.edu	37	12	971300	971300	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:971300G>A	ENST00000537687.1	+	8	2646	c.2003G>A	c.(2002-2004)cGa>cAa	p.R668Q	WNK1_ENST00000530271.2_Missense_Mutation_p.R668Q|WNK1_ENST00000315939.6_Missense_Mutation_p.R668Q|WNK1_ENST00000535572.1_Missense_Mutation_p.R668Q|WNK1_ENST00000340908.4_Missense_Mutation_p.R261Q	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	38	22	0	79	668					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	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)			ACAGAATCTCGAGTGAGCAGC	0.468000													1	1	1	1	1	1	1.000000	41	22	0	83	0	0	1	0	0	83	5
CHD4	1108	broad.mit.edu	37	12	6700637	6700637	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:6700637A>G	ENST00000309577.6	-	22	3498	c.3335T>C	c.(3334-3336)tTc>tCc	p.F1112S	CHD4_ENST00000544040.1_Missense_Mutation_p.F1105S|CHD4_ENST00000544484.1_Missense_Mutation_p.F1109S|CHD4_ENST00000357008.2_Missense_Mutation_p.F1112S			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	47	17	0	74	1112	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|zinc ion binding			central_nervous_system(2)	2						CTCACCATTGAAGCGGTCAAT	0.428000													1	1	1	1	1	1	1.000000	47	17	0	75	1	1	64	23	0	75	5
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	11	1	0	28	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			1	1	1	1	1	1	0.999999	14	1	0	30	0	0	0	1	0	30	5
DDX51	317781	broad.mit.edu	37	12	132625180	132625180	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr12:132625180C>T	ENST00000397333.3	-	10	1579	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	14	60	0	91	514	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	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)		GGAGTTCTCTCGGGAGTTAGT	0.642000													1	1	1	1	1	1	0.999848	14	66	0	96	1	9.561444e-01	9	19	0	96	5
HSPA2	3306	broad.mit.edu	37	14	65008092	65008092	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr14:65008092C>T	ENST00000247207.6	+	1	907	c.525C>T	c.(523-525)aaC>aaT	p.N175N	HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000394709.1_Silent_p.N175N	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	49	83	0	97	175					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GCATCATCAACGAGCCCACGG	0.652000													1	1	1	1	1	1	1.000000	54	90	1	103	0	3.199873e-01	0	3	1	103	5
SV2B	9899	broad.mit.edu	37	15	91795210	91795210	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr15:91795210C>T	ENST00000394232.1	+	3	1083	c.613C>T	c.(613-615)Cga>Tga	p.R205*	SV2B_ENST00000330276.4_Nonsense_Mutation_p.R205*|SV2B_ENST00000545111.2_Nonsense_Mutation_p.R54*	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	19	13	0	67	205					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCTCTTCTGCCGACTCATCTC	0.557000													1	1	1	1	1	1	1.000000	21	13	0	71	0	0	0	0	0	71	5
ADCY9	115	broad.mit.edu	37	16	4165230	4165230	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:4165230G>A	ENST00000294016.3	-	2	752	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	7	19	0	43	72					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			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGCGCAGCCGGCCTCCGCCG	0.677000													1	1	1	1	1	1	0.985917	7	19	0	44	0	0	1	0	0	44	5
NOB1	28987	broad.mit.edu	37	16	69778900	69778900	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:69778900C>T	ENST00000268802.5	-	8	874	c.845G>A	c.(844-846)cGa>cAa	p.R282Q		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	8	27	0	66	282						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAGAACACTCGGCTCATGTC	0.577000													1	1	1	1	1	1	0.996183	9	28	0	75	1	9.999932e-01	41	62	0	75	5
GAS8	2622	broad.mit.edu	37	16	90094129	90094129	+	Splice_Site	SNP	A	A	G			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:90094129A>G	ENST00000268699.4	+	2	211	c.90_splice	c.e2+1	p.Q30_splice	GAS8_ENST00000536122.1_Splice_Site_p.Q5_splice|GAS8_ENST00000540721.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	29	28	0	120	30	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		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)		AGCAAGGAGCAGGTGAGCAGA	0.612000													1	1	1	1	1	1	1.000000	29	29	0	125	1	6.814988e-01	3	1	0	125	5
TSR1	55720	broad.mit.edu	37	17	2228662	2228662	+	Silent	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:2228662C>T	ENST00000301364.4	-	12	3035	c.1956G>A	c.(1954-1956)gcG>gcA	p.A652A		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	7	33	0	64	652					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CATAGACTGTCGCCACCAGGG	0.453000													1	1	1	1	1	1	0.991601	8	38	0	69	1	9.980591e-01	16	47	0	69	5
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	42	8	0	71	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	47	10	0	83	1	1	48	7	0	83	5
HOXB9	3219	broad.mit.edu	37	17	46700472	46700472	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:46700472G>A	ENST00000550387.1	-	2	507	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	HOXB7_ENST00000567101.1_Intron|HOXB9_ENST00000311177.5_Silent_p.H181H			P17482	HXB9_HUMAN	homeobox B9	24	105	0	147	0					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						AAGAGCGAGCGTGCAGCCAGT	0.547000													1	1	1	1	1	1	1.000000	29	114	0	149	1	9.916777e-01	7	26	0	149	5
PDK2	5164	broad.mit.edu	37	17	48184459	48184459	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:48184459G>C	ENST00000503176.1	+	6	788	c.627G>C	c.(625-627)aaG>aaC	p.K209N	PDK2_ENST00000007708.3_Missense_Mutation_p.K145N	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	13	81	0	87	209	Histidine kinase.				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(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						ACATGGCTAAGCTCCTGTGTG	0.562000									Autosomal Dominant Polycystic Kidney Disease				1	1	1	1	1	1	0.999652	13	91	0	93	1	9.422472e-01	2	35	0	93	5
HLF	3131	broad.mit.edu	37	17	53392710	53392710	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:53392710A>C	ENST00000226067.5	+	3	1047	c.574A>C	c.(574-576)Atg>Ctg	p.M192L	HLF_ENST00000430986.2_Missense_Mutation_p.M107L|HLF_ENST00000575345.1_Missense_Mutation_p.M107L|HLF_ENST00000573945.1_Missense_Mutation_p.M107L	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	49	23	0	86	192	Pro-rich (proline/acidic region (PAR)).				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			large_intestine(1)|ovary(2)	3						TGGCCAGGAAATGTTTGACCC	0.517000			T	TCF3	ALL								1	1	1	1	1	1	1.000000	55	23	0	89	0	0	0	0	0	89	5
NPLOC4	55666	broad.mit.edu	37	17	79563195	79563195	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr17:79563195C>T	ENST00000374747.5	-	11	1196	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	NPLOC4_ENST00000331134.6_Missense_Mutation_p.R356Q|NPLOC4_ENST00000539314.1_Missense_Mutation_p.R195Q			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	57	20	0	57	356					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	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)			TGGAGAGAGCCGGCACATGTT	0.443000													1	1	1	1	1	1	1.000000	59	21	0	60	1	1	17	7	0	60	5
SERPINB4	6318	broad.mit.edu	37	18	61310414	61310414	+	Missense_Mutation	SNP	T	T	C	rs149334777		TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr18:61310414T>C	ENST00000341074.5	-	3	318	c.203A>G	c.(202-204)gAa>gGa	p.E68G	SERPINB4_ENST00000356424.6_Missense_Mutation_p.E68G	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4	21	31	0	63											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGCAGCTTTTTCTGTGGTGTT	0.403000													0	0	1	1	1	1	1.000000	21	35	0	69	0	0	0	0	0	69	3
ZNF700	90592	broad.mit.edu	37	19	12060050	12060050	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:12060050C>A	ENST00000482090.1	+	3	1575	c.1157C>A	c.(1156-1158)tCc>tAc	p.S386Y	CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.S404Y			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	11	52	0	78	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTTTCCAGTTCCTTTCGATAT	0.423000													1	1	1	1	1	1	0.998843	11	52	0	81	0	9.389417e-02	0	2	0	81	5
SLC1A6	6511	broad.mit.edu	37	19	15067364	15067364	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:15067364C>T	ENST00000430939.2	-	6	1030	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	SLC1A6_ENST00000600144.1_Intron|SLC1A6_ENST00000221742.3_Missense_Mutation_p.V365I			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	19	27	0	64	365					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CGGTGAGTGACGAGGAAGTAG	0.617000													1	1	1	1	1	1	0.999999	19	30	0	67	0	0	0	0	0	67	5
ZNF676	163223	broad.mit.edu	37	19	22364200	22364200	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:22364200T>A	ENST00000397121.2	-	3	636	c.319A>T	c.(319-321)Act>Tct	p.T107S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	27	40	0	95	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTCTGTGTAGTTGTTAAACTC	0.333000													1	1	1	1	1	1	1.000000	27	43	0	98	0	0	0	0	0	98	5
FXYD5	53827	broad.mit.edu	37	19	35657174	35657174	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:35657174C>T	ENST00000342879.3	+	7	1211	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	FXYD5_ENST00000588699.1_Missense_Mutation_p.R145W|FXYD5_ENST00000543307.1_Missense_Mutation_p.R145W|FXYD5_ENST00000541435.2_Missense_Mutation_p.R145W|FXYD5_ENST00000423817.3_Missense_Mutation_p.R145W|FXYD5_ENST00000590686.1_Missense_Mutation_p.R145W|FXYD5_ENST00000392217.3_Missense_Mutation_p.R74W|FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000392219.2_Missense_Mutation_p.R145W			Q96DB9	FXYD5_HUMAN	FXYD domain containing ion transport regulator 5	55	105	0	277	145					microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion	integral to membrane	actin binding|cadherin binding|ion channel activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTCCGGAAACGGGGGCTGTT	0.552000													1	1	1	1	1	1	1.000000	57	118	0	304	1	1	71	210	0	304	5
WBP7	0	broad.mit.edu	37	19	36221463	36221463	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:36221463G>A	ENST00000222270.7	+	25	5222	c.5222G>A	c.(5221-5223)gGt>gAt	p.G1741D	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.G1741D	NM_014727.1	NP_055542.1				128	161	0	406																		GACTCCCTGGGTACTCTGTCT	0.627000													1	1	1	1	1	1	1.000000	139	175	0	433	1	8.882002e-01	6	1	0	433	5
WBP7	0	broad.mit.edu	37	19	36222829	36222829	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:36222829C>T	ENST00000222270.7	+	27	5458	c.5458C>T	c.(5458-5460)Ccc>Tcc	p.P1820S	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.P1820S	NM_014727.1	NP_055542.1				9	27	0	56																		TGGTGAGGACCCCCCACTGGA	0.617000													1	1	1	1	1	1	0.996134	9	29	0	62	0	5.407860e-01	0	7	0	62	5
RSPH6A	81492	broad.mit.edu	37	19	46314094	46314094	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:46314094C>T	ENST00000221538.3	-	2	797	c.655G>A	c.(655-657)Gag>Aag	p.E219K	RSPH6A_ENST00000597055.1_Missense_Mutation_p.E219K|RSPH6A_ENST00000600188.1_5'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	7	14	0	34	219						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ACCAGGTGCTCGTACCTGCCT	0.627000													1	1	1	1	1	1	0.993636	8	16	0	35	0	0	0	0	0	35	5
PPP2R1A	5518	broad.mit.edu	37	19	52716323	52716323	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:52716323C>A	ENST00000322088.6	+	6	825	c.767C>A	c.(766-768)tCc>tAc	p.S256Y	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S77Y|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S201Y	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	14	36	1	71	256	PP2A subunit B binding.|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	p.S256F(11)|p.S256Y(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAAGACAAGTCCTGGCGCGTC	0.617000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	0.998009	14	38	1	76	1	9.999992e-01	117	176	1	76	5
ZNF444	55311	broad.mit.edu	37	19	56658404	56658404	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr19:56658404C>T	ENST00000337080.3	+	3	491	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	ZNF444_ENST00000592949.1_Missense_Mutation_p.R42C	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	12	10	0	24	42	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		GGGGCTGCTCCGCGCCCTGTG	0.746000													1	1	1	1	0	1	0.999844	12	10	0	24	1	9.903720e-01	4	7	0	24	4
ESF1	51575	broad.mit.edu	37	20	13763375	13763375	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr20:13763375T>A	ENST00000202816.1	-	2	519	c.412A>T	c.(412-414)Aaa>Taa	p.K138*		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	7	21	0	8	138	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTCATTTTTTTAATTCCTATA	0.259000													0	1	1	0	0	1	0.985191	7	23	0	8	0	2.675707e-01	0	4	0	8	2
KRTAP24-1	643803	broad.mit.edu	37	21	31654815	31654815	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr21:31654815G>A	ENST00000340345.4	-	1	461	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	27	65	0	147	146						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GAACCGTTGCGGAGGGTTTGG	0.498000													1	1	1	1	1	1	1.000000	30	73	0	166	0	0	0	0	0	166	5
DSCR3	10311	broad.mit.edu	37	21	38600596	38600596	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr21:38600596C>T	ENST00000288304.5	-	7	1250	c.458G>A	c.(457-459)aGa>aAa	p.R153K	DSCR3_ENST00000476950.1_Missense_Mutation_p.E169K|DSCR3_ENST00000398998.1_Missense_Mutation_p.E148K|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000309117.6_Missense_Mutation_p.E196K|DSCR3_ENST00000399001.1_Missense_Mutation_p.E71K|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000539844.1_Missense_Mutation_p.E119K			O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	25	47	0	91	188					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						ACCACCAGCTCTCCCGTTAGT	0.557000													1	1	1	1	1	1	1.000000	26	53	0	97	1	9.961465e-01	12	10	0	97	5
TBX1	6899	broad.mit.edu	37	22	19750852	19750852	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr22:19750852G>A	ENST00000332710.4	+	4	628	c.499G>A	c.(499-501)Gat>Aat	p.D167N	TBX1_ENST00000359500.3_Missense_Mutation_p.D167N|TBX1_ENST00000329705.7_Missense_Mutation_p.D167N	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	31	35	0	82	167					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GCCGGTGGACGATAAGCGCTA	0.612000													1	1	1	1	1	1	1.000000	32	38	0	89	0	0	0	0	0	89	5
RBBP7	5931	broad.mit.edu	37	X	16870879	16870879	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:16870879G>A	ENST00000380087.2	-	7	1238	c.878C>T	c.(877-879)gCg>gTg	p.A293V	RBBP7_ENST00000404022.1_Missense_Mutation_p.A284V|RBBP7_ENST00000380084.4_Missense_Mutation_p.A337V			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	145	93	0	156	293					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			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					AACCTTATCCGCAGAGCCGGT	0.428000													1	1	1	1	1	1	1.000000	155	99	0	160	1	1	435	12	0	160	5
PDK3	5165	broad.mit.edu	37	X	24549846	24549846	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:24549846T>A	ENST00000441463.2	+	10	1036	c.1036T>A	c.(1036-1038)Tcc>Acc	p.S346T	PDK3_ENST00000379162.4_Missense_Mutation_p.S346T	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	78	118	0	142	346	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAAACTGTATTCCATGGAAGG	0.358000													1	1	1	1	1	1	1.000000	88	132	0	166	0	1	0	64	0	166	5
DMD	1756	broad.mit.edu	37	X	32305742	32305742	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:32305742C>A	ENST00000357033.4	-	43	6400	c.6194G>T	c.(6193-6195)aGt>aTt	p.S2065I	DMD_ENST00000378677.2_Missense_Mutation_p.S2061I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	23	54	0	71	2065					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			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		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)				AGGCGTTGCACTTTGCAATGC	0.388000													1	1	1	1	1	1	1.000000	25	59	0	75	0	0	0	0	0	75	5
DLG3	1741	broad.mit.edu	37	X	69699084	69699084	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:69699084G>A	ENST00000194900.4	+	11	1885	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	DLG3_ENST00000542398.1_Missense_Mutation_p.R14Q|DLG3_ENST00000374355.3_Missense_Mutation_p.R160Q|DLG3_ENST00000374360.3_Missense_Mutation_p.R497Q			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	61	96	0	167	497	SH3.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGGTCCCTCCGAACAAGTGAA	0.498000													1	1	1	1	1	1	1.000000	64	103	0	187	0	7.375896e-01	0	6	0	187	5
IRS4	8471	broad.mit.edu	37	X	107976125	107976125	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:107976125G>A	ENST00000372129.2	-	1	3526	c.3450C>T	c.(3448-3450)gcC>gcT	p.A1150A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	25	164	0	192	1150	Ala-rich.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CAGCAGCTGCGGCTGCTGCGC	0.657000													1	1	1	1	1	1	1.000000	26	177	0	207	0	0	0	0	0	207	5
TENM1	10178	broad.mit.edu	37	X	123538968	123538968	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:123538968G>A	ENST00000422452.2	-	27	5367	c.5304C>T	c.(5302-5304)ccC>ccT	p.P1768P	TENM1_ENST00000371130.3_Silent_p.P1761P|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1	42	75	0	123																		TGTGCTCTCCGGGCAATGAGA	0.552000													1	1	1	1	1	1	1.000000	44	80	0	129	0	0	0	0	0	129	5
CT45A5	441521	broad.mit.edu	37	X	134948067	134948067	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:134948067C>A	ENST00000370724.3	-	3	502	c.258G>T	c.(256-258)caG>caT	p.Q86H	CT45A5_ENST00000491480.1_Missense_Mutation_p.Q86H|CT45A4_ENST00000420087.2_Intron	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	171	198	0	339	86										endometrium(1)|large_intestine(2)|lung(6)	9						TACCAGGTTTCTGCATCATCC	0.468000													1	0	1	1	1	1	1.000000	179	209	0	340	0	6.269223e-01	0	4	0	340	4
MCF2	4168	broad.mit.edu	37	X	138724667	138724667	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:138724667G>C	ENST00000370576.4	-	1	220	c.11C>G	c.(10-12)gCa>gGa	p.A4G	MCF2_ENST00000414978.1_Intron|MCF2_ENST00000370573.4_Missense_Mutation_p.A4G|MCF2_ENST00000536274.1_Missense_Mutation_p.A4G|MCF2_ENST00000370578.4_Intron|MCF2_ENST00000338585.6_Missense_Mutation_p.A4G|MCF2_ENST00000519895.1_Intron|MCF2_ENST00000520602.1_Intron	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	93	117	0	229	4	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	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCGGGGATTTGCTTCTGCCAT	0.473000													1	1	1	1	1	1	1.000000	102	123	0	253	0	0	0	0	0	253	5
FLNA	0	broad.mit.edu	37	X	153581770	153581770	+	Silent	SNP	G	G	T			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:153581770G>T	ENST00000422373.1	-	36	6140	c.5892C>A	c.(5890-5892)ccC>ccA	p.P1964P	FLNA_ENST00000369850.3_Silent_p.P1972P|FLNA_ENST00000344736.4_Silent_p.P1932P|FLNA_ENST00000369856.3_Silent_p.P105P|FLNA_ENST00000360319.4_Silent_p.P1964P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	40	85	0	151	1972					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)					AGATGTTGATGGGGATGTCGG	0.637000													1	1	1	1	1	1	1.000000	42	93	0	160	0	1	1	329	0	160	5
RAB39B	116442	broad.mit.edu	37	X	154490295	154490295	+	Silent	SNP	G	G	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chrX:154490295G>A	ENST00000369454.3	-	2	735	c.435C>T	c.(433-435)taC>taT	p.Y145Y		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	52	64	0	113	145					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	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)					ACTTCATGCCGTATGCAGCAG	0.498000													1	1	1	1	1	1	1.000000	56	66	0	114	0	0	1	0	0	114	5
WDR63	126820	broad.mit.edu	37	1	85555917	85555918	+	Splice_Site	INS	-	-	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr1:85555917_85555918insA	ENST00000294664.6	+	8	1037		c.e8+2		WDR63_ENST00000370596.1_Intron|WDR63_ENST00000326813.8_Intron	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	17	14	0	34											NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATCCATAAGGTAAAAAATTGCa	0.267000													1	1	1	1	0	1	0.999992	17	32	0	37	0	6.328271e-15	0	1	0	37	4
PDE7B	27115	broad.mit.edu	37	6	136429862	136429886	+	Splice_Site	DEL	TTTCTAGGAGATATACGACTAAGGG	TTTCTAGGAGATATACGACTAAGGG	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:136429862_136429886delTTTCTAGGAGATATACGACTAAGGG	ENST00000308191.6	+	3	385_403	c.82_splice	c.e3-1	p.28_splice	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	5	78	0	68	28					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.D29H(1)|p.G28E(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GATTTTCTGTTTTCTAGGAGATATACGACTAAGGGGTCAGACGGG	0.453000													1	0	0	1	0	1	0.938978	5	108	0	91	0	9.014723e-03	0	3	0	91	2
SYNE1	23345	broad.mit.edu	37	6	152706811	152706812	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr6:152706811_152706812insA	ENST00000367255.5	-	55	9250_9251	c.8649_8650insT	c.(8647-8652)ataggafs	p.G2884fs	SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.G2923fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.G2891fs|SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.G2891fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.G2884fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	24	41	0	72	2884					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			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCCTGACCTTAATTTTTGATA	0.356000										HNSCC(10;0.0054)			1	1	1	1	0	1	1.000000	24	65	0	72							4
RB1	5925	broad.mit.edu	37	13	49037935	49037943	+	In_Frame_Del	DEL	AACAGCATA	AACAGCATA	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr13:49037935_49037943delAACAGCATA	ENST00000267163.4	+	21	2313_2321	c.2175_2183delAACAGCATA	c.(2173-2184)gtc>gt	p.VTAY725del		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	21	7	0	71	725	Domain B.|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.0?(15)|p.?(10)|p.I703_E737del(2)|p.Y728C(1)|p.C712_A727del(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		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)	AAATCATTGTAACAGCATACAAGGATCTT	0.301000		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	1	1	1	0	1	1.000000	24	30	0	68	0	2.036341e-01	0	2	0	68	4
ZNF839	55778	broad.mit.edu	37	14	102807718	102807718	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr14:102807718delG	ENST00000262236.5	+	8	1999	c.1644delG	c.(1642-1644)acfs	p.T549fs	ZNF839_ENST00000442396.2_Frame_Shift_Del_p.T663fs|ZNF839_ENST00000558850.1_Frame_Shift_Del_p.T547fs|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000559185.1_Frame_Shift_Del_p.T547fs	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	20	50	0	76	547						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCCATACAACGACGGTTTCTG	0.527000													1	1	1	1	0	1	0.999998	20	72	0	80	1	9.997406e-01	12	42	0	80	4
CTCF	10664	broad.mit.edu	37	16	67645112	67645115	+	Frame_Shift_Del	DEL	TTGC	TTGC	-			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr16:67645112_67645115delTTGC	ENST00000264010.4	+	3	821_824	c.377_380delTTGC	c.(376-381)gtfs	p.VA126fs	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	34	48	0	149	126					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			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		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)		ACTGTACCTGTTGCTACCACTTCA	0.436000													1	1	1	1	0	1	1.000000	37	82	0	153	0	2.358825e-01	0	3	0	153	4
EP300	2033	broad.mit.edu	37	22	41489056	41489057	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N5-A4RF-01A-11D-A28R-08	TCGA-N5-A4RF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e50113-790a-4113-b65b-3712ac8d076d	39ed2a4e-81b1-4c89-bda1-be827d62cdf6	g.chr22:41489056_41489057insA	ENST00000263253.7	+	1	1267_1268	c.48_49insA	c.(46-51)ccaactfs	p.T17fs		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	71	107	0	183	17	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	p.K17E(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAAGCGGCCTAAACTCTCATC	0.550000			T,  N, F, Mis, O	MLL, RUNXBP2	colorectal, breast, pancreatic, AML, ALL, DLBCL				Rubinstein-Taybi syndrome				1	1	1	1	0	1	1.000000	71	184	0	186							4
MMEL1	79258	broad.mit.edu	37	1	2540796	2540796	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:2540796G>A	ENST00000288709.6	-	6	730	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	MMEL1_ENST00000378412.3_Missense_Mutation_p.R173C|MMEL1_ENST00000502556.1_Intron	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	9	12	0	27	173					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	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)		ATGCAGGAGCGGTACAGCGTC	0.687000													1	1	1	1	1	1	0.998784	10	14	0	30	0	0	0	0	0	30	5
ABCA4	24	broad.mit.edu	37	1	94528265	94528265	+	Missense_Mutation	SNP	C	C	T	rs61749410		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:94528265C>T	ENST00000370225.3	-	13	1891	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.R602Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	23	24	0	35	602			R -> Q (in STGD1).|R -> W (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		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)		CCAGATGTACCGGAAATCTTC	0.557000													1	1	1	1	1	1	1.000000	27	27	0	37	0	0	0	0	0	37	5
HSPA6	3310	broad.mit.edu	37	1	161495873	161495873	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:161495873G>C	ENST00000309758.4	+	1	1838	c.1425G>C	c.(1423-1425)caG>caC	p.Q475H		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	16	50	0	64	475					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAGTCCCCCAGATAGAGGTGA	0.537000													1	1	1	1	1	1	0.999970	16	52	0	66	0	8.055457e-01	0	12	0	66	5
DDR2	4921	broad.mit.edu	37	1	162746131	162746131	+	Missense_Mutation	SNP	C	C	T	rs121964863		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:162746131C>T	ENST00000367922.2	+	17	2692	c.2254C>T	c.(2254-2256)Cgc>Tgc	p.R752C	DDR2_ENST00000367921.3_Missense_Mutation_p.R752C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	7	111	0	149	752	Protein kinase.		R -> C (in SEMD-SL; causes retention in an intracellular compartment and thereby abolishes signaling in response collagen binding).		cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GCTCCCTATCCGCTGGATGTC	0.502000													1	1	1	1	0	1	0.990098	8	122	0	158	0	2.978847e-01	0	16	0	158	4
POU2F1	5451	broad.mit.edu	37	1	167381351	167381351	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:167381351A>C	ENST00000367862.5	+	14	1913	c.1678A>C	c.(1678-1680)Acc>Ccc	p.T560P	POU2F1_ENST00000541643.3_Missense_Mutation_p.T548P|POU2F1_ENST00000367866.2_Missense_Mutation_p.T571P|POU2F1_ENST00000429375.2_Missense_Mutation_p.T508P|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Missense_Mutation_p.T548P	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	16	59	0	61	548					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			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CACAACACAGACCACCTCCAC	0.602000													1	1	1	1	1	1	0.999992	18	65	0	66	0	4.818043e-01	1	6	0	66	5
EXO1	9156	broad.mit.edu	37	1	242042601	242042601	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:242042601G>C	ENST00000366548.3	+	13	2658	c.2065G>C	c.(2065-2067)Gca>Cca	p.A689P	EXO1_ENST00000518483.1_Missense_Mutation_p.A689P|EXO1_ENST00000348581.5_Missense_Mutation_p.A689P	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	17	22	0	42	689	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAGTTCAAATGCATCAAAGCT	0.413000								Editing and processing nucleases					1	1	1	1	1	1	1.000000	22	25	0	45	1	9.998596e-01	16	7	0	45	5
TBC1D8	11138	broad.mit.edu	37	2	101648744	101648744	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:101648744T>C	ENST00000409318.1	-	11	2052	c.1922A>G	c.(1921-1923)aAc>aGc	p.N641S	TBC1D8_ENST00000376840.4_Missense_Mutation_p.N626S	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	28	44	0	76	626	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CACTCGGTGGTTGAAGTAATC	0.532000													1	1	1	1	1	1	1.000000	32	51	0	79	1	9.085502e-01	4	5	0	79	5
MERTK	10461	broad.mit.edu	37	2	112686937	112686937	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:112686937G>T	ENST00000295408.4	+	2	559	c.302G>T	c.(301-303)gGa>gTa	p.G101V	MERTK_ENST00000421804.2_Missense_Mutation_p.G101V|MERTK_ENST00000409780.1_Intron			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	26	51	0	81	101	Ig-like C2-type 1.				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	p.G101V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACACAGTTGGACACATAATA	0.448000													1	1	1	1	1	1	1.000000	29	55	0	88	0	1.242983e-01	0	2	0	88	5
SAP130	79595	broad.mit.edu	37	2	128757879	128757879	+	Splice_Site	SNP	A	A	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:128757879A>C	ENST00000357702.5	-	8	1227		c.e8+1		SAP130_ENST00000259235.3_Splice_Site|SAP130_ENST00000259234.6_Splice_Site	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	13	51	0	58						histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTTTGGTTTTACCTGAGCCAT	0.483000													1	0	1	1	1	1	0.999863	14	54	0	62	1	1.220657e-01	3	0	0	62	4
GRM7	2917	broad.mit.edu	37	3	7188289	7188289	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:7188289C>A	ENST00000486284.1	+	2	944	c.670C>A	c.(670-672)Ctc>Atc	p.L224I	GRM7_ENST00000357716.4_Missense_Mutation_p.L224I|GRM7_ENST00000403881.1_Missense_Mutation_p.L224I|GRM7_ENST00000402647.2_Missense_Mutation_p.L224I|GRM7_ENST00000389336.4_Missense_Mutation_p.L224I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	8	48	0	87	224					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			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGTGTCTACCCTCGCATCGGA	0.522000													1	1	1	1	1	1	0.997736	10	48	0	89	0	0	0	0	0	89	5
COL7A1	1294	broad.mit.edu	37	3	48603954	48603954	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:48603954C>G	ENST00000328333.8	-	112	8454	c.8347G>C	c.(8347-8349)Gct>Cct	p.A2783P	COL7A1_ENST00000454817.1_Missense_Mutation_p.A2751P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	7	106	0	145	2783	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCAGTGCAGCTTCTCCCTTC	0.672000													0	0	1	0	0	1	0.981634	7	114	0	154	1	6.997495e-01	3	37	0	154	1
IP6K1	9807	broad.mit.edu	37	3	49764567	49764567	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:49764567G>C	ENST00000321599.4	-	6	1615	c.1314C>G	c.(1312-1314)gaC>gaG	p.D438E	IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000395238.1_Missense_Mutation_p.D273E|IP6K1_ENST00000460540.1_Missense_Mutation_p.D273E	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	31	28	0	72	438					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	p.D438D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						ACTGGTTCTCGTCCCGCATCT	0.587000													1	1	1	1	1	1	1.000000	36	31	0	79	1	9.983498e-01	8	5	0	79	5
SHQ1	55164	broad.mit.edu	37	3	72799764	72799764	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:72799764C>G	ENST00000325599.8	-	11	1544	c.1405G>C	c.(1405-1407)Gaa>Caa	p.E469Q	SHQ1_ENST00000463369.1_Missense_Mutation_p.E441Q|SHQ1_ENST00000468371.1_5'UTR	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	16	19	0	55	469	Ser-rich.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		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)		CCTGAGTCTTCGTTTCCAGAT	0.473000													0	0	1	0	0	1	0.999990	16	19	0	56	1	9.993890e-01	12	9	0	56	1
CD80	941	broad.mit.edu	37	3	119276562	119276562	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:119276562C>T	ENST00000264246.3	-	2	376	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	CD80_ENST00000478182.1_Missense_Mutation_p.R5Q|CD80_ENST00000383668.3_Missense_Mutation_p.R5Q|CD80_ENST00000383669.3_Missense_Mutation_p.R5Q	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	9	17	0	46	5					interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	TCCCTGCCTCCGTGTGTGGCC	0.498000													1	1	1	1	1	1	0.998461	10	20	0	49	0	0	0	0	0	49	5
NME9	347736	broad.mit.edu	37	3	138038355	138038355	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:138038355T>A	ENST00000383180.2	-	5	331	c.94A>T	c.(94-96)Atc>Ttc	p.I32F	NME9_ENST00000484930.1_Missense_Mutation_p.I54F|NME9_ENST00000536478.1_Missense_Mutation_p.I32F|NME9_ENST00000341790.5_Missense_Mutation_p.I54F|NME9_ENST00000333911.3_Missense_Mutation_p.I54F|NME9_ENST00000317876.4_Missense_Mutation_p.I32F	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	9	28	0	38	54	Thioredoxin.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										CCGACCTCGATCCTCATCTTC	0.438000													1	1	0	1	1	1	0.995916	9	34	0	43	0	5.314010e-02	0	2	0	43	4
PIK3CA	5290	broad.mit.edu	37	3	178952084	178952084	+	Missense_Mutation	SNP	C	C	T	rs121913281		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:178952084C>T	ENST00000263967.3	+	21	3296	c.3139C>T	c.(3139-3141)Cat>Tat	p.H1047Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	36	40	0	69	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.H1047Y(37)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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)			GAATGATGCACATCATGGTGG	0.373000	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY)	57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	44	43	0	73	1	1	24	23	0	73	5
THAP9	79725	broad.mit.edu	37	4	83826061	83826061	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr4:83826061G>A	ENST00000302236.5	+	2	304	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	8	17	0	56	85							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AAAAGGAGCTGTGCCTTCTGT	0.363000													1	0	1	1	0	1	0.993318	8	18	0	58	0	0	0	1	0	58	3
FBXW7	0	broad.mit.edu	37	4	153251907	153251907	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr4:153251907G>A	ENST00000281708.4	-	7	2328	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R249*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R287*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R367*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R367*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R191*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	17	33	0	86	367					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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R367*(10)|p.R287*(3)|p.R128*(3)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTTCTCCTCGCCTCCAGTTA	0.388000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	0.999999	20	36	0	91	0	1.350088e-01	0	2	0	91	5
NIPBL	25836	broad.mit.edu	37	5	37049341	37049341	+	Missense_Mutation	SNP	C	C	T	rs80358376		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:37049341C>T	ENST00000282516.8	+	40	7391	c.6892C>T	c.(6892-6894)Cgc>Tgc	p.R2298C	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2298C	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	21	134	0	158	2298			R -> C (in CDLS1).|R -> H (in CDLS1).		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			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	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)			GTCAAGTGTACGCCACTTTGC	0.413000													1	1	1	1	1	1	0.999999	22	146	0	171	1	5.739044e-01	2	12	0	171	5
FAM169A	26049	broad.mit.edu	37	5	74137476	74137476	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:74137476T>C	ENST00000389156.4	-	2	116	c.26A>G	c.(25-27)gAa>gGa	p.E9G	FAM169A_ENST00000380515.3_Missense_Mutation_p.E9G|FAM169A_ENST00000510496.1_Missense_Mutation_p.E9G	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	10	41	0	58	9										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GCTGCAATTTTCCAGCATATC	0.378000													1	1	1	1	1	1	0.999478	12	43	0	64	0	0	0	1	0	64	5
MAML1	9794	broad.mit.edu	37	5	179195869	179195869	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:179195869G>A	ENST00000292599.3	+	3	2013	c.1750G>A	c.(1750-1752)Gtc>Atc	p.V584I	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	67	149	0	267	584					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			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	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)			CCCTTCCAGTGTCCCTGTGCA	0.562000													1	1	1	1	1	1	1.000000	71	157	0	286	1	6.050295e-01	2	4	0	286	5
KIAA0319	9856	broad.mit.edu	37	6	24566850	24566850	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:24566850C>A	ENST00000535378.1	-	15	2882	c.2240G>T	c.(2239-2241)cGg>cTg	p.R747L	KIAA0319_ENST00000378214.3_Missense_Mutation_p.R756L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R711L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R756L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	10	78	0	84	756	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGGCCATCCCGGATCCACAG	0.463000													1	1	1	1	1	1	0.999332	12	81	0	88	0	0	0	0	0	88	5
KIAA0319	9856	broad.mit.edu	37	6	24596359	24596359	+	Silent	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:24596359C>T	ENST00000535378.1	-	4	1158	c.516G>A	c.(514-516)gaG>gaA	p.E172E	KIAA0319_ENST00000378214.3_Silent_p.E181E|KIAA0319_ENST00000430948.2_Silent_p.E136E|KIAA0319_ENST00000543707.1_Silent_p.E181E|KIAA0319_ENST00000537886.1_Silent_p.E181E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	31	31	0	62	181					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTCCGTGTACTCGGCACTCC	0.637000													1	1	1	1	1	1	1.000000	32	32	0	64	0	0	0	0	0	64	5
SYNE1	23345	broad.mit.edu	37	6	152554983	152554983	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:152554983G>A	ENST00000367255.5	-	112	21246	c.20645C>T	c.(20644-20646)tCg>tTg	p.S6882L	SYNE1_ENST00000265368.4_Missense_Mutation_p.S6882L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6811L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6811L|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1406L|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6494L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	24	38	0	55	6882					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			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCAATGCGCGACAGCTCAGA	0.512000										HNSCC(10;0.0054)			1	1	1	1	1	1	1.000000	24	40	0	62	0	0	0	1	0	62	5
MAP3K4	4216	broad.mit.edu	37	6	161530808	161530808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:161530808G>T	ENST00000392142.4	+	23	4406	c.4258G>T	c.(4258-4260)Gag>Tag	p.E1420*	MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.E1366*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.E1370*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.E1416*	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	35	33	0	69	1420	Protein kinase.				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			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		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)		CATCTTCATGGAGTACTGCGA	0.443000													1	1	1	1	1	1	1.000000	37	36	0	76	1	9.999675e-01	6	16	0	76	5
DGKB	1607	broad.mit.edu	37	7	14741318	14741318	+	Silent	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:14741318G>A	ENST00000403951.2	-	7	923	c.504C>T	c.(502-504)ttC>ttT	p.F168F	DGKB_ENST00000444700.2_Silent_p.F161F|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Silent_p.F168F|DGKB_ENST00000407950.1_Silent_p.F161F|DGKB_ENST00000399322.3_Silent_p.F168F|DGKB_ENST00000258767.5_Silent_p.F168F|DGKB_ENST00000406247.3_Silent_p.F168F			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	8	25	0	58	168	EF-hand 1.				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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	AGCTGTCCAGGAAGCCATTCC	0.328000													1	1	1	1	1	1	0.998192	10	27	0	66	0	0	0	0	0	66	5
CALN1	83698	broad.mit.edu	37	7	71743757	71743757	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:71743757A>G	ENST00000395275.2	-	3	546	c.158T>C	c.(157-159)tTg>tCg	p.L53S	CALN1_ENST00000329008.5_Missense_Mutation_p.L11S|CALN1_ENST00000431984.1_Missense_Mutation_p.L11S|CALN1_ENST00000395276.2_Missense_Mutation_p.L11S|CALN1_ENST00000412588.1_Missense_Mutation_p.L53S|CALN1_ENST00000405452.2_Missense_Mutation_p.L11S	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	12	27	0	51	11	EF-hand 1.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCCCTTGTACAACAAGCCGGC	0.522000													1	1	1	1	1	1	0.999584	12	29	0	54	0	0	0	0	0	54	5
LRRC4	64101	broad.mit.edu	37	7	127670549	127670549	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:127670549C>G	ENST00000249363.3	-	2	402	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	5	126	0	167	49	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CACGAGCAGACGGAGGGGCAG	0.647000													0	0	1	0	0	1	0.938680	5	135	0	172	1	9.910495e-01	255	5	0	172	1
GIMAP4	55303	broad.mit.edu	37	7	150269569	150269569	+	Silent	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:150269569C>A	ENST00000255945.2	+	3	586	c.411C>A	c.(409-411)atC>atA	p.I137I	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.I151I	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	17	44	0	87	137							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAGAAGATCCTGAAAATGT	0.483000													1	1	1	1	1	1	0.999988	17	45	0	91	1	9.567437e-01	3	14	0	91	5
LZTS1	11178	broad.mit.edu	37	8	20107496	20107496	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr8:20107496C>T	ENST00000381569.1	-	4	1885	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	LZTS1_ENST00000265801.6_Missense_Mutation_p.E510K|LZTS1_ENST00000522290.1_Intron			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	36	13	0	131	510					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			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCCGCAGCTCGGCCCGCAGC	0.701000													1	1	1	1	1	1	1.000000	39	14	0	135	0	0	0	0	0	135	5
PRKCQ	5588	broad.mit.edu	37	10	6506275	6506275	+	Splice_Site	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr10:6506275G>A	ENST00000263125.5	-	13	1544	c.1445_splice	c.e13+1	p.T482_splice	PRKCQ_ENST00000397176.2_Splice_Site_p.T482_splice|PRKCQ_ENST00000539722.1_Splice_Site_p.T357_splice	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	175	210	0	330	482	Protein kinase.				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			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AGCCTCTTACGTCGCTCTGGA	0.458000													1	1	1	1	1	1	1.000000	197	247	0	376	1	7.333098e-01	2	3	0	376	5
SFMBT2	57713	broad.mit.edu	37	10	7214029	7214029	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr10:7214029G>A	ENST00000361972.4	-	19	2333	c.2243C>T	c.(2242-2244)tCg>tTg	p.S748L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.S748L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	5	22	0	18	748					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTCCGCCGACGAGGTGTCCGT	0.711000													1	0	1	1	0	1	0.970343	6	25	0	19	0	0	0	0	0	19	3
MS4A15	219995	broad.mit.edu	37	11	60541407	60541407	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr11:60541407A>T	ENST00000405633.3	+	6	675	c.596A>T	c.(595-597)cAt>cTt	p.H199L	MS4A15_ENST00000337911.4_Missense_Mutation_p.H106L|MS4A15_ENST00000528170.1_Missense_Mutation_p.H158L	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	57	6	0	80	199						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CAAGCCATCCATGCCCAGGCC	0.607000													1	1	1	1	1	1	1.000000	61	6	0	87	1	9.681568e-01	3	0	0	87	5
CD248	57124	broad.mit.edu	37	11	66082813	66082813	+	Silent	SNP	A	A	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr11:66082813A>G	ENST00000311330.3	-	1	1702	c.1686T>C	c.(1684-1686)ggT>ggC	p.G562G	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	47	54	0	145	562	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GTAGCTGGGCACCGAGGGTGG	0.622000													1	1	1	1	1	1	1.000000	54	57	0	155	1	1	189	111	0	155	5
LMO3	55885	broad.mit.edu	37	12	16704161	16704161	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:16704161G>A	ENST00000320122.6	-	4	955	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	LMO3_ENST00000447609.1_Missense_Mutation_p.R145C|LMO3_ENST00000541846.1_Missense_Mutation_p.R145C|LMO3_ENST00000441439.2_Missense_Mutation_p.R145C|LMO3_ENST00000541295.1_Missense_Mutation_p.R163C|LMO3_ENST00000261169.6_Missense_Mutation_p.R156C|LMO3_ENST00000540848.1_Missense_Mutation_p.R145C|LMO3_ENST00000540445.1_Missense_Mutation_p.R167C|LMO3_ENST00000537304.1_Missense_Mutation_p.R145C|LMO3_ENST00000535535.1_Missense_Mutation_p.R145C|LMO3_ENST00000534946.1_Missense_Mutation_p.R145C|LMO3_ENST00000354662.1_Missense_Mutation_p.R145C	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	28	12	0	62	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				ATAGATCAGCGAACCTGGGGT	0.378000													1	1	1	1	1	1	1.000000	33	15	0	81	0	0	0	1	0	81	5
MSRB3	253827	broad.mit.edu	37	12	65857094	65857094	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:65857094G>A	ENST00000308259.5	+	7	824	c.550G>A	c.(550-552)Gag>Aag	p.E184K	MSRB3_ENST00000535664.1_Missense_Mutation_p.E184K|MSRB3_ENST00000355192.3_Missense_Mutation_p.E191K	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	18	31	0	58	191					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		AGACAAAGCGGAGCTCTAGAG	0.448000													1	1	1	1	1	1	0.999998	19	32	0	59	0	7.930685e-01	1	6	0	59	5
GTF3A	2971	broad.mit.edu	37	13	28009312	28009312	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr13:28009312A>T	ENST00000381140.4	+	8	1110	c.916A>T	c.(916-918)Aag>Tag	p.K306*	GTF3A_ENST00000470606.1_3'UTR	NM_002097.2	NP_002088.2	Q92664	TF3A_HUMAN	general transcription factor IIIA	29	23	0	56	306					regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|lung(1)	2		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)		TCCTGACAAGAAGAAAATGAA	0.338000													1	1	1	1	1	1	1.000000	29	23	0	66	1	1	337	209	0	66	5
KBTBD7	84078	broad.mit.edu	37	13	41768108	41768108	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr13:41768108A>C	ENST00000379483.3	-	1	594	c.286T>G	c.(286-288)Ttc>Gtc	p.F96V		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	20	27	0	70	96	BTB.						protein binding	p.Y95fs*42(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		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)		ATGCTCTTGAAGTAGGGACAC	0.602000													1	1	1	1	1	1	0.999999	20	28	0	68	0	0	0	0	0	68	5
MED4	29079	broad.mit.edu	37	13	48654103	48654103	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr13:48654103G>A	ENST00000258648.2	-	6	542	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Missense_Mutation_p.R127W	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	14	28	0	65	173					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			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		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)		TAGGGTCTCCGGGGGTCCCCT	0.393000													1	1	1	1	1	1	0.999954	15	34	0	69	1	1	27	92	0	69	5
MAZ	4150	broad.mit.edu	37	16	29821543	29821543	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr16:29821543A>T	ENST00000322945.6	+	5	1590	c.1425A>T	c.(1423-1425)caA>caT	p.Q475H	MAZ_ENST00000566906.2_Missense_Mutation_p.T130S|MAZ_ENST00000545521.1_Missense_Mutation_p.Q452H|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000563402.1_Missense_Mutation_p.T132S|MAZ_ENST00000562337.1_Missense_Mutation_p.Q170H|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000568544.1_Missense_Mutation_p.Q76H|MAZ_ENST00000568282.1_3'UTR|AC009133.20_ENST00000569039.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	15	6	0	19	475					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCCCTCCCAACCCTGGTGAG	0.637000													1	1	1	1	1	1	0.999996	15	6	0	19	1	1	345	137	0	19	5
VPS53	55275	broad.mit.edu	37	17	556625	556625	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:556625C>T	ENST00000437048.2	-	7	660	c.514G>A	c.(514-516)Gga>Aga	p.G172R	VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000576149.1_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.G172R|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.G143R|VPS53_ENST00000401468.3_Intron	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	21	26	0	114	172					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCAACTTCTCCGTATTGTCTT	0.458000													1	1	1	1	1	1	1.000000	22	28	0	115	0	0	1	0	0	115	5
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	38	7	0	76	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(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*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	39	7	0	85	1	1	29	2	0	85	5
DHRS7C	201140	broad.mit.edu	37	17	9676126	9676126	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:9676126C>T	ENST00000330255.4	-	5	700	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	DHRS7C_ENST00000571134.1_Missense_Mutation_p.V229M	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	32	7	0	81	230						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCTGGATACACGTGGTACGAC	0.582000													1	1	1	1	1	1	1.000000	35	8	0	86	0	0	0	0	0	86	5
ALDH3A1	218	broad.mit.edu	37	17	19642904	19642904	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:19642904C>T	ENST00000457500.2	-	7	1362	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V345M|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.V281M|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V272M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V345M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	9	19	0	43	345					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	AGGCTGCGCACGCACACGATG	0.632000													1	1	1	1	1	1	0.996615	9	21	0	49	1	3.718487e-01	2	2	0	49	5
CCL1	6346	broad.mit.edu	37	17	32687649	32687649	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:32687649C>T	ENST00000225842.3	-	3	289	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	56	89	0	131	74					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGTCCAAGGCGCAGGCCTCT	0.522000													1	1	1	1	1	1	1.000000	63	100	0	144	0	0	0	0	0	144	5
RASL10B	91608	broad.mit.edu	37	17	34062267	34062267	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:34062267C>T	ENST00000268864.3	+	2	441	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	31	42	0	75	22	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCATCGTGCGCCAGTTCTT	0.672000													1	1	1	1	1	1	1.000000	35	47	0	79	1	9.887352e-01	6	7	0	79	5
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:37881332G>A	ENST00000406381.2	+	23	2944	c.2434G>A	c.(2434-2436)Gta>Ata	p.V812I	ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	43	57	0	79	842	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.V842I(6)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	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)	TGTGCGGCTCGTACACAGGGA	0.597000		1	A, Mis, O		breast, ovarian, other tumour types, NSCLC, gastric					TCGA GBM(5;<1E-08)			1	1	1	1	1	1	1.000000	46	63	0	86	1	1	86	72	0	86	5
DHX58	79132	broad.mit.edu	37	17	40253875	40253875	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:40253875G>C	ENST00000251642.3	-	14	2163	c.1941C>G	c.(1939-1941)atC>atG	p.I647M		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	11	60	0	67	647	RNA-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTTGGCCTGGATCCGCCCCT	0.592000											OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999688	13	67	0	74	1	9.766335e-01	3	33	0	74	5
RNF213	57674	broad.mit.edu	37	17	78346514	78346514	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:78346514C>T	ENST00000582970.1	+	48	12874	c.12731C>T	c.(12730-12732)tCg>tTg	p.S4244L	RNF213_ENST00000508628.2_Missense_Mutation_p.S4293L|RNF213_ENST00000336301.6_Missense_Mutation_p.S2317L|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	23	26	0	51	280										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATTTCCTCTCGGAGCCTGAG	0.557000													1	1	1	1	1	1	1.000000	25	31	0	55	1	9.493962e-01	2	7	0	55	5
SNRPA	6626	broad.mit.edu	37	19	41265493	41265493	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:41265493G>A	ENST00000243563.3	+	3	954	c.404G>A	c.(403-405)gGg>gAg	p.G135E	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	31	25	0	48	135						nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCGTGGTGGGGGCTGTCCAG	0.682000													1	1	1	1	1	1	1.000000	31	26	0	53	1	1	160	155	0	53	5
SYMPK	8189	broad.mit.edu	37	19	46329516	46329516	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:46329516G>A	ENST00000245934.7	-	17	2541	c.2297C>T	c.(2296-2298)cCg>cTg	p.P766L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	6	17	0	24	766					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGCACAGACGGTGGGTTGGG	0.572000													1	1	1	1	1	1	0.972020	6	18	0	24	1	9.999938e-01	38	100	0	24	5
MZF1	7593	broad.mit.edu	37	19	59074376	59074376	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:59074376C>A	ENST00000215057.2	-	6	1828	c.1268G>T	c.(1267-1269)cGc>cTc	p.R423L	MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.R423L|AC016629.8_ENST00000593642.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	18	48	0	43	423					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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)		GCGCGCGCTGCGCACGAAGCC	0.687000													1	1	1	1	1	1	0.999999	21	51	0	46	1	9.999926e-01	16	41	0	46	5
MZF1	7593	broad.mit.edu	37	19	59074528	59074528	+	Silent	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:59074528C>T	ENST00000215057.2	-	6	1676	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	MZF1_ENST00000594234.1_Silent_p.*291*|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Silent_p.L372L|AC016629.8_ENST00000593642.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	22	43	0	35	372					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		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)		TCTGGTGCCTCAGCAGGTTGC	0.687000													1	1	1	1	1	1	1.000000	22	46	0	37	1	9.999866e-01	10	37	0	37	5
ARFRP1	10139	broad.mit.edu	37	20	62331872	62331872	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr20:62331872G>A	ENST00000359715.4	-	7	1095	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	ARFRP1_ENST00000440854.1_3'UTR|ARFRP1_ENST00000324228.2_Missense_Mutation_p.R177C|ARFRP1_ENST00000485858.1_5'UTR			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	12	184	0	124	177					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	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)			ATGCCCTCGCGCACCCCTTTG	0.697000													1	1	1	1	0	1	0.999582	13	205	0	131	1	9.994973e-01	12	200	0	131	4
GAB4	128954	broad.mit.edu	37	22	17488843	17488843	+	Silent	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:17488843C>T	ENST00000400588.1	-	1	269	c.162G>A	c.(160-162)aaG>aaA	p.K54K	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	8	13	0	32	54	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGAGCCTCAGCTTCTTCTCGG	0.697000													1	1	1	1	0	1	0.997387	9	13	0	36	0	0	0	0	0	36	4
NEFH	4744	broad.mit.edu	37	22	29879422	29879422	+	Silent	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:29879422G>A	ENST00000310624.6	+	2	975	c.942G>A	c.(940-942)gcG>gcA	p.A314A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	49	152	0	243	314	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGCGCTCAGCGCAGGAGGAGA	0.612000													1	1	1	1	1	1	1.000000	57	167	0	265	1	8.466498e-01	6	6	0	265	5
RTCB	51493	broad.mit.edu	37	22	32784075	32784075	+	Silent	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:32784075G>T	ENST00000216038.5	-	12	1520	c.1422C>A	c.(1420-1422)tcC>tcA	p.S474S	RTCB_ENST00000451746.2_3'UTR	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase	3	18	0	28																		CATTCTTATAGGACTCAGGAG	0.403000													1	0	1	1	1	1	0.896150	4	20	0	29	0	9.999097e-01	0	185	0	29	4
TAF1	6872	broad.mit.edu	37	X	70607151	70607151	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:70607151A>G	ENST00000449580.1	+	15	2315	c.2264A>G	c.(2263-2265)cAt>cGt	p.H755R	TAF1_ENST00000373790.4_Missense_Mutation_p.H755R|TAF1_ENST00000423759.1_Missense_Mutation_p.H776R|TAF1_ENST00000276072.3_Missense_Mutation_p.H776R			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	67	13	0	152	755					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			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATTTATCTTCATAAGATGCCA	0.373000													1	1	1	1	1	1	1.000000	75	15	1	170	1	6.839645e-01	2	0	1	170	5
MAGEE2	139599	broad.mit.edu	37	X	75004287	75004287	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:75004287C>A	ENST00000373359.2	-	1	792	c.600G>T	c.(598-600)tgG>tgT	p.W200C		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	18	26	0	89	200	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCAAGTCCCAAATGGAGG	0.512000													1	1	1	1	1	1	0.999997	18	28	0	99	0	0	0	0	0	99	5
CDR1	1038	broad.mit.edu	37	X	139865785	139865785	+	Silent	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:139865785G>A	ENST00000370532.2	-	1	938	c.747C>T	c.(745-747)acC>acT	p.T249T		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	96	12	0	182	249										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AAGAAATCCAGGTCTTCCAGT	0.418000													1	1	1	1	1	1	1.000000	105	13	0	192	0	0	1	0	0	192	5
CUL9	23113	broad.mit.edu	37	6	43155158	43155159	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:43155158_43155159delTT	ENST00000252050.4	+	6	1646_1647	c.1562_1563delTT	c.(1561-1563)cfs	p.L521fs	CUL9_ENST00000354495.3_Intron|CUL9_ENST00000372647.2_Frame_Shift_Del_p.L521fs	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	61	61	0	98	521					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTCCAGAATCTTTGGAAGAACC	0.450000													1	1	1	1	0	1	1.000000	61	122	0	98							4
NOVA1	4857	broad.mit.edu	37	14	26941517	26941517	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr14:26941517delA	ENST00000547619.1	-	4	586	c.528delT	c.(526-528)tafs	p.Y176fs	NOVA1_ENST00000539517.2_Intron|NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000344429.5_Intron|NOVA1_ENST00000267422.7_Intron			P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	5	7	0	26	0	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGACAGGATGATACTGTACCT	0.438000													1	0	1	1	0	1	0.948337	5	12	0	28	0	5.862284e-01	0	6	0	28	3
CPSF3L	54973	broad.mit.edu	37	1	1248278	1248278	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:1248278C>T	ENST00000540437.1	-	14	1656	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	CPSF3L_ENST00000450926.2_Missense_Mutation_p.A373T|CPSF3L_ENST00000421495.2_Missense_Mutation_p.A137T|CPSF3L_ENST00000435064.1_Missense_Mutation_p.A395T|CPSF3L_ENST00000411962.1_Missense_Mutation_p.A297T|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A294T|CPSF3L_ENST00000545578.1_Missense_Mutation_p.A366T	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	50	51	0	52	395						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	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)		ATGCCCTTGGCGTCCGCGTGT	0.617000													1	1	1	1	1	1	1.000000	55	54	0	58	1	1	55	54	0	58	5
ATP8B2	57198	broad.mit.edu	37	1	154318722	154318722	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:154318722C>T	ENST00000368489.3	+	25	2893	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	101	105	0	108	951					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCCCGAGCAGCGGAGCATGGA	0.577000													1	1	1	1	1	1	1.000000	110	114	0	118	1	7.985111e-01	2	3	0	118	5
RAB25	57111	broad.mit.edu	37	1	156039516	156039516	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:156039516A>G	ENST00000361084.5	+	4	729	c.488A>G	c.(487-489)gAg>gGg	p.E163G	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	11	470	0	237	163					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					ACCAATGTTGAGCTAGCCTTT	0.498000													1	0	1	1	0	1	0.999541	13	522	0	259	0	1.382353e-02	0	7	0	259	3
IFI16	3428	broad.mit.edu	37	1	159002348	159002348	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:159002348C>T	ENST00000295809.7	+	7	1451	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L	IFI16_ENST00000368131.4_Missense_Mutation_p.P399L|IFI16_ENST00000430894.2_Missense_Mutation_p.P347L|IFI16_ENST00000340979.6_Missense_Mutation_p.P399L|IFI16_ENST00000368132.3_Missense_Mutation_p.P399L|IFI16_ENST00000359709.3_Missense_Mutation_p.P343L|IFI16_ENST00000448393.2_Missense_Mutation_p.P399L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	31	40	0	71	399					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			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AACAATGACCCCAAGAGCATG	0.428000													1	1	1	1	1	1	1.000000	32	42	0	74	1	9.995764e-01	6	15	0	74	5
TSSC1	7260	broad.mit.edu	37	2	3341870	3341870	+	Silent	SNP	G	G	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:3341870G>T	ENST00000398659.4	-	3	317	c.177C>A	c.(175-177)gtC>gtA	p.V59V	TSSC1_ENST00000443925.2_Silent_p.V59V|TSSC1_ENST00000382125.4_Silent_p.V59V			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	38	1	0	49	59							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	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)		GATGGAGGAGGACATTTTTAT	0.413000													1	1	1	1	1	1	1.000000	39	2	0	50	1	9.995952e-01	4	1	0	50	5
ZFP36L2	678	broad.mit.edu	37	2	43452192	43452192	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:43452192G>A	ENST00000282388.3	-	2	1044	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	29	22	0	24	251					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				AACTTGGGCCGCGGCTCCCGC	0.761000													1	1	1	1	0	1	1.000000	31	24	0	27	0	0	0	0	0	27	4
LCT	3938	broad.mit.edu	37	2	136575373	136575373	+	Silent	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:136575373C>T	ENST00000264162.2	-	6	1255	c.1245G>A	c.(1243-1245)agG>agA	p.R415R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	61	94	0	115	415	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTTCAGGGGCCTGCGTGGAT	0.652000													1	1	1	1	1	1	1.000000	63	97	0	121	0	0	0	0	0	121	5
SCN2A	6326	broad.mit.edu	37	2	166165867	166165867	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr2:166165867T>A	ENST00000375437.2	+	6	901	c.611T>A	c.(610-612)gTg>gAg	p.V204E	SCN2A_ENST00000375427.2_Intron|SCN2A_ENST00000283256.6_Missense_Mutation_p.V204E|SCN2A_ENST00000357398.3_Intron	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	35	22	0	40	204					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TACAGATATGTGACAGAGTTT	0.428000													1	1	1	1	1	1	1.000000	38	25	0	48	0	0	0	0	0	48	5
LYZL4	131375	broad.mit.edu	37	3	42448441	42448441	+	Silent	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr3:42448441G>A	ENST00000287748.3	-	3	464	c.189C>T	c.(187-189)taC>taT	p.Y63Y	LYZL4_ENST00000470991.1_5'UTR|LYZL4_ENST00000441172.1_Silent_p.Y63Y	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	34	56	0	72	63					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GTGTGTTCTCGTAGATGGCCA	0.552000													1	1	1	1	1	1	1.000000	38	63	0	74	0	0	0	0	0	74	5
GLYCTK	132158	broad.mit.edu	37	3	52324395	52324395	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr3:52324395C>T	ENST00000354773.4	+	2	133	c.37C>T	c.(37-39)Cga>Tga	p.R13*	GLYCTK-AS1_ENST00000493616.1_RNA|GLYCTK_ENST00000471180.1_Intron|GLYCTK_ENST00000461183.1_Intron|GLYCTK_ENST00000473032.1_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000477382.1_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000305690.8_Nonsense_Mutation_p.R13*|GLYCTK_ENST00000436784.2_Nonsense_Mutation_p.R13*	NM_001144951.1	NP_001138423.1	Q8IVS8	GLCTK_HUMAN	glycerate kinase	28	4	0	31	13					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				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)		CCGCTTGGCCCGAGCCCCCTT	0.657000													1	1	1	1	1	1	1.000000	29	5	0	32	0	0	0	0	0	32	5
TRA2B	6434	broad.mit.edu	37	3	185643403	185643403	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr3:185643403C>G	ENST00000453386.2	-	3	457	c.182G>C	c.(181-183)aGa>aCa	p.R61T	TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	11	67	0	45	61	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GGAGCTTCTTCTGGATCTAGA	0.458000													1	1	1	1	1	1	0.998715	11	73	0	48	0	6.185515e-01	0	15	0	48	5
SORCS2	57537	broad.mit.edu	37	4	7725547	7725547	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr4:7725547G>A	ENST00000507866.2	+	19	2657	c.2548G>A	c.(2548-2550)Gtg>Atg	p.V850M	SORCS2_ENST00000329016.9_Missense_Mutation_p.V678M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	81	73	0	118	850	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CATCTACCGCGTGTCCGTCAG	0.602000													1	1	1	1	0	1	1.000000	85	79	0	119	0	0	0	0	0	119	4
HCN1	348980	broad.mit.edu	37	5	45262055	45262055	+	Missense_Mutation	SNP	C	C	A	rs56377228		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:45262055C>A	ENST00000303230.4	-	8	2698	c.2641G>T	c.(2641-2643)Gca>Tca	p.A881S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	11	164	0	125	881						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGCTTTTCTGCGTCTGGGTCT	0.473000													1	1	1	1	0	1	0.999789	14	183	0	133	0	0	0	0	0	133	4
SRP19	6728	broad.mit.edu	37	5	112198213	112198213	+	Missense_Mutation	SNP	G	G	T	rs77541650		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:112198213G>T	ENST00000505459.1	+	2	205	c.50G>T	c.(49-51)tGt>tTt	p.C17F	SRP19_ENST00000512790.1_3'UTR|SRP19_ENST00000282999.3_Missense_Mutation_p.C17F|CTC-554D6.1_ENST00000520401.1_Missense_Mutation_p.L88F|SRP19_ENST00000515463.1_Intron	NM_001204193.1|NM_003135.2	NP_001191122.1|NP_003126.1	P09132	SRP19_HUMAN	signal recognition particle 19kDa	4	35	0	19	17					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		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)		AGGTTTATTTGTATCTATCCT	0.458000													0	0	1	0	1	1	0.968505	6	40	0	23	0	7.134149e-01	0	18	0	23	2
PCDHGA10	0	broad.mit.edu	37	5	140793312	140793312	+	Silent	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:140793312C>T	ENST00000398610.2	+	1	570	c.570C>T	c.(568-570)gcC>gcT	p.A190A	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1				19	35	0	66											breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCCGTGCCAATGGCGTCA	0.597000													1	1	1	1	1	1	0.999999	20	38	0	68	0	0	0	0	0	68	5
ARAP3	64411	broad.mit.edu	37	5	141044588	141044588	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:141044588C>T	ENST00000239440.4	-	19	2766	c.2701G>A	c.(2701-2703)Gcg>Acg	p.A901T	ARAP3_ENST00000513878.1_Missense_Mutation_p.A563T|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.A803T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	24	22	0	34	901					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			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCACCAGCCGCGCCCCCAATG	0.637000											OREG0016871	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	0	1	1.000000	28	25	0	35	0	0	0	0	0	35	4
PDGFRB	5159	broad.mit.edu	37	5	149500558	149500558	+	Missense_Mutation	SNP	G	G	C	rs67186817		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr5:149500558G>C	ENST00000261799.4	-	18	2948	c.2479C>G	c.(2479-2481)Ctg>Gtg	p.L827V		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	35	46	0	68	827	Protein kinase.				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			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		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)	CTAGCCGCCAGGTCTCTGTGG	0.542000			T	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP	MPD, AML, CMML, CML								1	1	1	1	1	1	1.000000	40	51	0	77	0	1.969801e-01	0	2	0	77	5
LPA	4018	broad.mit.edu	37	6	160999636	160999636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr6:160999636G>A	ENST00000447678.1	-	28	4510	c.4390C>T	c.(4390-4392)Cga>Tga	p.R1464*	LPA_ENST00000316300.5_Nonsense_Mutation_p.R1464*	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	78	86	0	129	3972	Kringle 13.				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			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		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)	ACTGGACATCGTGTCAGGTTG	0.527000													1	1	1	1	1	1	1.000000	85	89	0	131	0	0	0	0	0	131	5
KMT2C	58508	broad.mit.edu	37	7	151845550	151845550	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr7:151845550C>T	ENST00000355193.2	-	53	13851	c.13633G>A	c.(13633-13635)Gcc>Acc	p.A4545T	KMT2C_ENST00000262189.6_Missense_Mutation_p.A4488T					lysine (K)-specific methyltransferase 2C	82	88	0	123																		GCTTTAATGGCGCAAGTGAAG	0.423000													1	1	1	1	1	1	1.000000	84	94	0	126	0	0	0	0	0	126	5
DMTN	2039	broad.mit.edu	37	8	21931326	21931326	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:21931326A>C	ENST00000358242.3	+	10	1308	c.815A>C	c.(814-816)gAc>gCc	p.D272A	DMTN_ENST00000381470.3_Missense_Mutation_p.D272A|DMTN_ENST00000415253.1_Missense_Mutation_p.D272A|DMTN_ENST00000443491.2_Missense_Mutation_p.D247A|DMTN_ENST00000517600.1_Missense_Mutation_p.D232A|DMTN_ENST00000523266.1_Missense_Mutation_p.D272A|DMTN_ENST00000519907.1_Missense_Mutation_p.D272A|DMTN_ENST00000265800.5_Missense_Mutation_p.D272A|DMTN_ENST00000432128.1_Missense_Mutation_p.D272A|DMTN_ENST00000523782.2_Missense_Mutation_p.D247A					dematin actin binding protein	28	67	0	44																		TCTCTGCCTGACCGGACACCC	0.522000													1	1	1	1	1	1	1.000000	29	75	0	46	1	8.098579e-01	3	7	0	46	5
ADRA1A	148	broad.mit.edu	37	8	26627888	26627888	+	Silent	SNP	G	G	A	rs143947423		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:26627888G>A	ENST00000380573.3	-	3	2202	c.1179C>T	c.(1177-1179)ggC>ggT	p.G393G	ADRA1A_ENST00000519229.1_Silent_p.G393G|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Silent_p.G393G|ADRA1A_ENST00000354550.4_Silent_p.G393G|ADRA1A_ENST00000380586.1_Silent_p.G393G|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000276393.4_Silent_p.G393G			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	104	102	0	155	393					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)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		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)	ATTCACAAACGCCATCCGTCT	0.552000													1	1	1	1	1	1	1.000000	107	103	0	161	0	0	0	0	0	161	5
CSPP1	79848	broad.mit.edu	37	8	68084769	68084769	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:68084769T>G	ENST00000262210.5	+	23	2963	c.2932T>G	c.(2932-2934)Ttt>Gtt	p.F978V	CSPP1_ENST00000412460.1_Missense_Mutation_p.F633V|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	12	27	0	28	1013						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	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)			TGTTCATGATTTTAATGAGCT	0.388000													1	1	1	1	1	1	0.999910	14	30	0	28	0	1.110083e-01	1	1	0	28	5
VPS28	51160	broad.mit.edu	37	8	145649436	145649436	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr8:145649436G>A	ENST00000377348.2	-	9	625	c.536C>T	c.(535-537)aCg>aTg	p.T179M	VPS28_ENST00000529182.1_Missense_Mutation_p.T179M|VPS28_ENST00000526054.1_Missense_Mutation_p.T179M|VPS28_ENST00000292510.4_Missense_Mutation_p.T179M	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	10	291	0	122	179	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	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;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)			CTGGCTGACCGTCTGGCGGCC	0.692000													1	0	1	1	0	1	0.996989	10	333	0	132	1	9.997647e-01	5	527	0	132	3
GLIPR2	152007	broad.mit.edu	37	9	36162513	36162513	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr9:36162513G>C	ENST00000377960.4	+	5	493	c.459G>C	c.(457-459)aaG>aaC	p.K153N	GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000377959.1_Missense_Mutation_p.K127N	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	8	52	0	41	153				TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).		extracellular region|Golgi membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						TGCCGCCGAAGAAGTAACTTG	0.527000													0	1	0	0	0	1	0.999863	14	54	0	42	1	8.977042e-01	2	16	0	42	1
GLIPR2	152007	broad.mit.edu	37	9	36162516	36162516	+	Silent	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr9:36162516G>A	ENST00000377960.4	+	5	496	c.462G>A	c.(460-462)aaG>aaA	p.K154K	GLIPR2_ENST00000396613.3_3'UTR|GLIPR2_ENST00000474050.1_3'UTR|GLIPR2_ENST00000377959.1_Silent_p.K128K	NM_022343.2	NP_071738.1	Q9H4G4	GAPR1_HUMAN	GLI pathogenesis-related 2	7	48	0	38	154				TGHFTAMVWKNTKKMGVGKASASDGSSFVVARYFPAGNVVN EGFFEENVLPPKK -> IRFFFFNFLLFLSKPLLYFSYF (in Ref. 3; BAC11019).		extracellular region|Golgi membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						CGCCGAAGAAGTAACTTGTTA	0.522000													0	1	0	0	0	1	0.999728	13	50	0	38	1	9.521244e-01	2	21	0	38	1
FRMPD2	143162	broad.mit.edu	37	10	49395266	49395266	+	Silent	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:49395266G>A	ENST00000374201.3	-	17	2537	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	FRMPD2_ENST00000305531.3_Silent_p.L720L|FRMPD2_ENST00000407470.4_Silent_p.L713L	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	14	35	0	34	745					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GTGGTCCAGAGAGAGAGTCCC	0.562000													1	1	1	1	1	1	0.999951	15	37	0	37	0	0	0	0	0	37	5
OGDHL	55753	broad.mit.edu	37	10	50959892	50959892	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:50959892G>A	ENST00000374103.4	-	6	815	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	OGDHL_ENST00000419399.1_Missense_Mutation_p.R187W|OGDHL_ENST00000432695.1_Missense_Mutation_p.R35W	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	95	91	0	167	244					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R244R(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGCACTAGCCGGGCCAGCAGG	0.612000													1	1	1	1	1	1	1.000000	100	92	0	172	0	0	0	0	0	172	5
LRIT1	26103	broad.mit.edu	37	10	86001097	86001097	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr10:86001097G>C	ENST00000372105.3	-	1	120	c.99C>G	c.(97-99)atC>atG	p.I33M		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	6	64	0	53	33	LRRNT.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CATCACCCATGATATGGAGGC	0.642000													1	1	1	1	1	1	0.990652	8	70	0	54	0	0	0	0	0	54	5
OTUB1	55611	broad.mit.edu	37	11	63764986	63764986	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:63764986C>T	ENST00000541478.1	+	4	941	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	OTUB1_ENST00000422031.2_Missense_Mutation_p.R299W|OTUB1_ENST00000428192.2_Missense_Mutation_p.R262W|OTUB1_ENST00000535715.1_Intron|OTUB1_ENST00000543988.1_Missense_Mutation_p.R232W|OTUB1_ENST00000538426.1_Missense_Mutation_p.R262W|OTUB1_ENST00000543004.1_Missense_Mutation_p.R271W			Q96FW1	OTUB1_HUMAN	OTU domain, ubiquitin aldehyde binding 1	58	109	0	120	262	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						CCTTCTCTACCGGCCTGGACA	0.617000													1	1	1	1	1	1	1.000000	69	122	0	137	1	1	102	109	0	137	5
FDX1	2230	broad.mit.edu	37	11	110327746	110327746	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:110327746G>A	ENST00000260270.2	+	3	653	c.415G>A	c.(415-417)Gat>Aat	p.D139N		NM_004109.4	NP_004100.1	P10109	ADX_HUMAN	ferredoxin 1	10	80	0	107	139	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	TGACATGCTCGATCTGGCATA	0.383000													1	1	1	1	1	1	0.998651	11	89	0	116	0	7.200139e-01	0	22	0	116	5
KRT72	140807	broad.mit.edu	37	12	52985408	52985408	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:52985408A>C	ENST00000293745.2	-	5	888	c.803T>G	c.(802-804)aTc>aGc	p.I268S	KRT72_ENST00000398066.3_Missense_Mutation_p.I80S|KRT72_ENST00000354310.4_Missense_Mutation_p.I268S|KRT72_ENST00000537672.2_Missense_Mutation_p.I268S	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	14	88	0	63	268	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GATCTGAGTGATCTCCTGGGG	0.577000													1	1	1	1	1	1	0.999989	18	106	0	69	0	0	0	0	0	69	5
OR6C2	341416	broad.mit.edu	37	12	55846759	55846759	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:55846759C>G	ENST00000322678.1	+	1	762	c.762C>G	c.(760-762)atC>atG	p.I254M	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	26	69	0	68	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GAAGCTGCATCTTCATCTATA	0.423000													1	1	1	1	1	1	1.000000	28	77	0	72	0	0	0	0	0	72	5
LRP1	4035	broad.mit.edu	37	12	57589461	57589461	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:57589461G>A	ENST00000243077.3	+	53	8924	c.8458G>A	c.(8458-8460)Gac>Aac	p.D2820N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	38	40	0	63	2820	LDL-receptor class A 18.				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			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACTTGTGACGACCGTGAGTT	0.602000													1	1	1	1	1	1	1.000000	39	41	0	64	0	0	1	0	0	64	5
NOC4L	79050	broad.mit.edu	37	12	132633385	132633385	+	Silent	SNP	G	G	A	rs144597773		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr12:132633385G>A	ENST00000330579.1	+	9	887	c.846G>A	c.(844-846)ccG>ccA	p.P282P	NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	19	17	0	21	282					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCATCCTGCCGCAGCTGGCGC	0.701000													1	1	1	1	0	1	1.000000	25	20	0	23	1	9.999924e-01	11	13	0	23	4
GRIN2A	0	broad.mit.edu	37	16	9934842	9934842	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr16:9934842C>A	ENST00000396573.2	-	7	1757	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	GRIN2A_ENST00000562109.1_Missense_Mutation_p.G483V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G483V|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G326V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G483V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G483V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	37	109	0	84	483					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			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCATGCTTCCCATTGGTCAC	0.428000													1	1	1	1	1	1	1.000000	41	121	0	93	0	0	0	0	0	93	5
GSG2	83903	broad.mit.edu	37	17	3627230	3627230	+	Translation_Start_Site	SNP	A	A	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:3627230A>G	ENST00000325418.4	+	1	20	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	35	4	0	35	1					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										GGTGCCGGCCATGGCGGCTTC	0.731000													1	1	1	1	0	1	1.000000	35	4	0	37	0	0	1	0	0	37	4
ITGAE	3682	broad.mit.edu	37	17	3638132	3638132	+	Silent	SNP	C	C	T	rs149392793	by1000genomes	TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:3638132C>T	ENST00000263087.4	-	21	2732	c.2634G>A	c.(2632-2634)ctG>ctA	p.L878L	ITGAE_ENST00000571185.1_5'UTR	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	114	17	0	187	878					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TCTTCAACTGCAGGTTTCTGG	0.542000													1	1	1	1	1	1	1.000000	121	17	0	197	0	0	0	0	0	197	5
TP53	7157	broad.mit.edu	37	17	7577550	7577550	+	Missense_Mutation	SNP	C	C	T	rs28934572		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:7577550C>T	ENST00000420246.2	-	7	863	c.731G>A	c.(730-732)gGc>gAc	p.G244D	TP53_ENST00000413465.2_Missense_Mutation_p.G244D|TP53_ENST00000269305.4_Missense_Mutation_p.G244D|TP53_ENST00000359597.4_Missense_Mutation_p.G244D|TP53_ENST00000445888.2_Missense_Mutation_p.G244D|TP53_ENST00000455263.2_Missense_Mutation_p.G244D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	54	2	0	67	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G244D(47)|p.G244V(14)|p.G244A(9)|p.0?(8)|p.?(5)|p.G151D(4)|p.G244fs*4(3)|p.G244_M246>V(3)|p.G244fs*19(1)|p.G151_M153>V(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GTTCATGCCGCCCATGCAGGA	0.577000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	58	2	0	75	1	9.062980e-01	2	0	0	75	5
DNAH17	8632	broad.mit.edu	37	17	76570856	76570856	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr17:76570856C>T	ENST00000389840.5	-	2	408	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	DNAH17_ENST00000585328.1_Missense_Mutation_p.R95Q					dynein, axonemal, heavy chain 17	5	161	0	83											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTAAAGGAGCCGGGCCCTGTA	0.597000													1	0	1	1	0	1	0.981239	7	176	0	90	0	0	0	0	0	90	3
ZNF345	25850	broad.mit.edu	37	19	37367691	37367691	+	Translation_Start_Site	SNP	T	T	G			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:37367691T>G	ENST00000529555.1	+	0	747				ZNF345_ENST00000526123.1_De_novo_Start_OutOfFrame|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_De_novo_Start_OutOfFrame|ZNF345_ENST00000420450.1_De_novo_Start_OutOfFrame			Q14585	ZN345_HUMAN	zinc finger protein 345	21	37	0	45						negative 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	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCAGACTATGAATCAAAGT	0.303000													1	0	1	1	1	1	1.000000	22	38	0	45	0	0	0	0	0	45	4
FASTKD5	60493	broad.mit.edu	37	20	3128656	3128656	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:3128656C>A	ENST00000380266.3	-	2	1382	c.1061G>T	c.(1060-1062)cGc>cTc	p.R354L	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	10	103	0	68	354					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						CACTAAGGAGCGACTACTCAG	0.403000													1	1	1	1	0	1	0.999270	12	115	0	74	0	0	0	1	0	74	4
PTPRT	11122	broad.mit.edu	37	20	40730876	40730876	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:40730876C>T	ENST00000373198.3	-	27	3903	c.3668G>A	c.(3667-3669)cGg>cAg	p.R1223Q	PTPRT_ENST00000373187.1_Missense_Mutation_p.R1201Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1204Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1191Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1211Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1210Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1200Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	37	81	0	68	1201	Tyrosine-protein phosphatase 2.				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			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATCATGGTTCCGGGGCAGGAG	0.557000													1	1	1	1	1	1	1.000000	40	90	0	72	0	0	0	0	0	72	5
L3MBTL1	26013	broad.mit.edu	37	20	42164751	42164751	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:42164751C>T	ENST00000444063.1	+	15	1802	c.1670C>T	c.(1669-1671)cCt>cTt	p.P557L	L3MBTL1_ENST00000427442.2_Missense_Mutation_p.P625L|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.P562L|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.P557L|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.P625L			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	5	63	0	32	557					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			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGCCCCACTCCTGGTTGCGAC	0.597000													1	0	1	1	0	1	0.967162	6	66	0	34	0	0	0	0	0	34	3
BCAS1	8537	broad.mit.edu	37	20	52612494	52612494	+	Translation_Start_Site	SNP	G	G	A	rs146823292		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr20:52612494G>A	ENST00000434986.2	-	0	242				BCAS1_ENST00000395961.3_Silent_p.D273D|BCAS1_ENST00000371435.2_Silent_p.D273D|BCAS1_ENST00000371440.3_Silent_p.D273D			O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	39	80	0	64							cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	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)			CCTGGGAATCGTCCTTTGCAG	0.463000													1	1	1	1	1	1	1.000000	45	83	0	68	0	0	0	0	0	68	5
KRTAP19-6	337973	broad.mit.edu	37	21	31914007	31914007	+	Missense_Mutation	SNP	C	C	T	rs146590456		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr21:31914007C>T	ENST00000334046.5	-	1	176	c.146G>A	c.(145-147)cGt>cAt	p.R49H		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	133	161	0	184	49						intermediate filament		p.R49H(1)		breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						ATATCCTTCACGGCATGATGG	0.493000													1	1	1	1	1	1	1.000000	137	177	0	194	0	0	0	0	0	194	5
PI4KA	5297	broad.mit.edu	37	22	21084273	21084273	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr22:21084273C>A	ENST00000255882.6	-	37	4401	c.4315G>T	c.(4315-4317)Gac>Tac	p.D1439Y	PI4KA_ENST00000572273.1_Missense_Mutation_p.D1381Y|PI4KA_ENST00000414196.3_Missense_Mutation_p.D191Y	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	28	33	0	29	1381					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-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)			ACAGTTATGTCCAGGTTGCTC	0.493000													1	1	1	1	1	1	1.000000	28	36	0	32	1	4.108468e-01	3	0	0	32	5
SMC1A	8243	broad.mit.edu	37	X	53432009	53432009	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chrX:53432009G>A	ENST00000322213.4	-	13	2258	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	SMC1A_ENST00000375340.6_Missense_Mutation_p.R477W	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	21	4	0	21	711			R -> Q (in CDLS2).|R -> W (in CDLS2).		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	p.R711W(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TACTTGAGCCGCATCTGCAGT	0.562000													1	1	1	1	1	1	1.000000	21	4	0	21	0	0	1	0	0	21	5
SPEN	23013	broad.mit.edu	37	1	16202965	16202978	+	Frame_Shift_Del	DEL	ACCCGGGAGGTACG	ACCCGGGAGGTACG	-	rs146447271		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr1:16202965_16202978delACCCGGGAGGTACG	ENST00000375759.3	+	3	877_890	c.673_686delACCCGGGAGGTACG	c.(673-687)afs	p.TREVR225fs	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	38	100	0	114	225	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		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)		GGATGATATTACCCGGGAGGTACGAGGCAGAAGG	0.528000													1	1	1	1	0	1	1.000000	41	143	0	117							4
OR5L2	26338	broad.mit.edu	37	11	55595238	55595238	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr11:55595238delC	ENST00000378397.1	+	1	544	c.544delC	c.(544-546)ccfs	p.P183fs		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	116	178	0	211	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CTGTGATCTACCCCCTCTCCT	0.453000										HNSCC(27;0.073)			1	1	1	1	0	1	1.000000	116	299	0	213							4
MAST1	22983	broad.mit.edu	37	19	12975741	12975743	+	In_Frame_Del	DEL	CCG	CCG	-	rs146244031		TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:12975741_12975743delCCG	ENST00000251472.4	+	13	1524_1526	c.1485_1487delCCG	c.(1483-1488)cac>ca	p.HR495del		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	58	12	0	90	495	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCATCGTGCACCGCGACCTCAAG	0.567000													1	1	1	1	0	1	1.000000	58	74	0	91							4
ZNF230	7773	broad.mit.edu	37	19	44515243	44515243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N5-A4RM-01A-11D-A28R-08	TCGA-N5-A4RM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	643ce1e5-5d7b-42a7-be84-fff6e1f00788	fbe85c1e-c6b0-4a9a-91cc-189ca341431f	g.chr19:44515243delT	ENST00000429154.2	+	5	1280	c.1052delT	c.(1051-1053)ctfs	p.L352fs		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	77	190	0	108	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TCCTCATATCTTTTGATCCAT	0.428000													1	1	1	1	0	1	1.000000	77	272	0	109	1	8.464966e-01	2	12	0	109	4
RAD54L	8438	broad.mit.edu	37	1	46714224	46714224	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:46714224C>A	ENST00000371975.4	+	2	718	c.44C>A	c.(43-45)cCt>cAt	p.P15H	RAD54L_ENST00000442598.1_Missense_Mutation_p.P15H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	18	35	0	38	15					meiosis	nucleus	ATP binding|DNA binding|helicase activity	p.P15H(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AAGAGAAAACCTGAAGGCAGG	0.547000								Direct reversal of damage;Homologous recombination					1	1	1	1	1	1	0.999999	20	42	0	42	1	9.852142e-01	9	9	0	42	5
CDCP2	200008	broad.mit.edu	37	1	54605311	54605311	+	Missense_Mutation	SNP	C	C	T	rs138436244	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:54605311C>T	ENST00000371330.1	-	4	2079	c.1232G>A	c.(1231-1233)gGt>gAt	p.G411D	CDCP2_ENST00000530059.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	50	23	0	86	411						extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CTGGAGAAGACCATTCATGGG	0.597000													1	1	1	1	1	1	1.000000	55	25	0	94	0	0	0	0	0	94	5
INADL	10207	broad.mit.edu	37	1	62582864	62582864	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:62582864G>A	ENST00000371158.2	+	37	4978	c.4864G>A	c.(4864-4866)Gca>Aca	p.A1622T	INADL_ENST00000543708.1_Missense_Mutation_p.A436T	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	3	30	0	38	1622					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTGGACCTCCGCAAGGACGAC	0.483000													0	0	1	1	1	1	0.893868	4	35	0	42	0	4.946990e-01	0	14	0	42	3
TRMT13	54482	broad.mit.edu	37	1	100613620	100613620	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:100613620A>G	ENST00000370141.2	+	10	994	c.988A>G	c.(988-990)Att>Gtt	p.I330V		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)	18	39	0	68																		TGTGGCTGGCATTGTTATTGC	0.413000													1	1	1	1	1	1	0.999998	19	42	0	75	1	9.889506e-01	6	14	0	75	5
LINGO4	339398	broad.mit.edu	37	1	151774911	151774911	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:151774911G>T	ENST00000368820.3	-	2	1207	c.270C>A	c.(268-270)gaC>gaA	p.D90E		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	10	68	0	61	90						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTAGCTGAGGTCCAATTCCT	0.612000													1	1	1	1	1	1	0.997507	10	69	0	69	0	0	0	0	0	69	5
RCSD1	92241	broad.mit.edu	37	1	167663457	167663457	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:167663457G>A	ENST00000367854.3	+	5	723	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	RCSD1_ENST00000537350.1_Missense_Mutation_p.R101Q	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	9	84	0	57	131										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCTGGTGTGCGATCTAGGCCC	0.592000													1	1	1	1	0	1	0.994893	9	96	0	60	0	7.602492e-02	0	5	0	60	4
KIF26B	55083	broad.mit.edu	37	1	245775144	245775144	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:245775144T>G	ENST00000366518.4	+	6	925	c.821T>G	c.(820-822)tTt>tGt	p.F274C	KIF26B_ENST00000407071.2_Missense_Mutation_p.F655C			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	19	52	0	44	655					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	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)			AAGGCTGCCTTTTTCCTGGAT	0.602000													1	1	1	1	1	1	0.999999	21	60	0	45	0	1.767440e-01	0	3	0	45	5
PXDN	7837	broad.mit.edu	37	2	1652752	1652752	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:1652752C>T	ENST00000252804.4	-	17	2850	c.2800G>A	c.(2800-2802)Ggc>Agc	p.G934S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	18	28	0	50	934					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			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	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)		CGCAGCAGGCCGCGGTGGCTG	0.692000													1	1	1	1	1	1	0.999999	19	29	0	54	1	9.997239e-01	14	13	0	54	5
BCL11A	53335	broad.mit.edu	37	2	60773229	60773229	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:60773229A>G	ENST00000335712.6	-	2	489	c.262T>C	c.(262-264)Tca>Cca	p.S88P	BCL11A_ENST00000538214.1_Missense_Mutation_p.S88P|BCL11A_ENST00000356842.4_Missense_Mutation_p.S88P|BCL11A_ENST00000359629.5_Missense_Mutation_p.S88P|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.S88P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	20	46	0	64	88	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				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|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCGATTGGTGAAGGGGAAGGT	0.463000			T	IGH@	B-CLL								1	1	1	1	1	1	1.000000	21	47	0	70	1	9.999982e-01	18	43	0	70	5
PLCL1	5334	broad.mit.edu	37	2	198949947	198949947	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:198949947C>T	ENST00000428675.1	+	2	2104	c.1706C>T	c.(1705-1707)tCg>tTg	p.S569L	PLCL1_ENST00000437704.2_Missense_Mutation_p.S471L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	21	45	0	66	569					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGAAGGATGTCGGTAGATTAC	0.398000													1	1	1	1	1	1	1.000000	21	46	0	70	0	0	0	0	0	70	5
ROBO1	6091	broad.mit.edu	37	3	78683127	78683127	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:78683127C>T	ENST00000436010.2	-	22	4319	c.3322G>A	c.(3322-3324)Gga>Aga	p.G1108R	ROBO1_ENST00000495273.1_Missense_Mutation_p.G1102R|ROBO1_ENST00000467549.1_Missense_Mutation_p.G1047R|ROBO1_ENST00000464233.1_Missense_Mutation_p.G1147R			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	14	32	0	64	1147					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			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		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)		TAGGATCCTCCTGTGTTCTGG	0.393000													1	1	1	1	1	1	0.999989	17	39	0	70	0	3.675446e-01	0	4	0	70	5
CPOX	1371	broad.mit.edu	37	3	98304286	98304286	+	Splice_Site	SNP	G	G	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:98304286G>C	ENST00000264193.2	-	5	1389	c.1172_splice	c.e5+1	p.R391_splice		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	47	144	0	226	391						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTCACTTACCGTCCTCTTCTG	0.478000													1	1	1	1	1	1	1.000000	55	159	0	245	1	8.806293e-01	3	10	0	245	5
ZBTB11	27107	broad.mit.edu	37	3	101395550	101395550	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:101395550C>T	ENST00000312938.4	-	1	789	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	ZBTB11_ENST00000461821.1_Missense_Mutation_p.R70Q|ZBTB11-AS1_ENST00000536865.1_Missense_Mutation_p.S21L	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	13	1	0	14	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTCCCGGCGTCGCTCCGGCTG	0.692000													1	1	1	1	0	1	0.999997	13	1	0	15	1	9.999538e-01	6	4	0	15	4
CCDC39	339829	broad.mit.edu	37	3	180337633	180337633	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:180337633A>T	ENST00000442201.2	-	15	2243	c.2124T>A	c.(2122-2124)aaT>aaA	p.N708K	CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	4	16	0	10	708					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTGCTTATAATTGTTGTTAC	0.338000													0	0	1	0	1	1	0.945274	5	18	0	12	0	0	0	0	0	12	2
ADAMTS3	9508	broad.mit.edu	37	4	73188778	73188778	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:73188778G>A	ENST00000286657.4	-	6	934	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	36	122	0	121	300	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			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)			ACATTTATATGCACTCCGAGG	0.363000													1	1	1	1	0	1	1.000000	41	150	0	143	0	0	0	0	0	143	4
SMARCA5	8467	broad.mit.edu	37	4	144445586	144445586	+	Silent	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:144445586C>T	ENST00000283131.3	+	4	948	c.486C>T	c.(484-486)acC>acT	p.T162T		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	12	25	0	52	162					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		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CCAAAGCAACCAATGTTTGCA	0.363000													1	1	1	1	1	1	0.999803	13	30	0	56	1	9.996126e-01	11	28	0	56	5
FBXW7	0	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	53	46	0	84	479					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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	60	48	0	86	1	9.991630e-01	5	8	0	86	5
MRPL36	64979	broad.mit.edu	37	5	1798835	1798835	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr5:1798835A>G	ENST00000508987.1	-	2	351	c.215T>C	c.(214-216)cTt>cCt	p.L72P	MRPL36_ENST00000505818.1_Missense_Mutation_p.L72P|MRPL36_ENST00000505059.2_Missense_Mutation_p.L72P|MRPL36_ENST00000382647.7_Missense_Mutation_p.L72P			Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36	8	365	0	83	72					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(2)	3				GBM - Glioblastoma multiforme(108;0.241)		GCGCTTCTTAAGGACAGTCTT	0.592000													0	0	1	0	0	1	0.996954	10	428	0	82	1	9.913265e-01	9	341	0	82	1
IRX2	153572	broad.mit.edu	37	5	2749656	2749656	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr5:2749656G>C	ENST00000382611.6	-	2	743	c.495C>G	c.(493-495)ttC>ttG	p.F165L	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.F165L	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	47	873	0	171	165						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCGCGTTGGCGAACCAGGTGG	0.597000													1	0	1	1	0	1	1.000000	51	961	0	181	0	0	0	0	0	181	3
UGT3A1	133688	broad.mit.edu	37	5	35954581	35954581	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr5:35954581C>T	ENST00000274278.3	-	7	1653		c.e7-1			NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	6	26	0	37							integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CGACTTGTACCTGTTGGCGGA	0.547000													1	0	1	1	1	1	0.992080	8	30	0	42	0	0	0	1	0	42	4
NOTCH4	4855	broad.mit.edu	37	6	32169084	32169084	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:32169084G>A	ENST00000375023.3	-	22	4087	c.3949C>T	c.(3949-3951)Cgg>Tgg	p.R1317W		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	17	85	0	52	1317					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			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GACAGCACCCGGGCCAGGGCA	0.642000													1	1	1	1	1	1	0.999990	18	92	0	53	0	8.356983e-01	0	19	0	53	5
SYNGAP1	8831	broad.mit.edu	37	6	33391325	33391325	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:33391325C>T	ENST00000418600.2	+	2	240	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R47W|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	43	172	0	117	47					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTGGAACCCTCGGTTCTGCAT	0.542000													1	1	1	1	1	1	1.000000	44	177	0	131	0	0	0	0	0	131	5
KCNK5	8645	broad.mit.edu	37	6	39162482	39162482	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:39162482T>C	ENST00000359534.3	-	3	691	c.353A>G	c.(352-354)tAt>tGt	p.Y118C		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	39	177	0	134	118					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GAAGAGACCATAGAAAACACA	0.582000													1	1	1	1	1	1	1.000000	43	203	0	145	0	0	0	1	0	145	5
MCM3	4172	broad.mit.edu	37	6	52143605	52143605	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:52143605C>A	ENST00000596288.1	-	6	976	c.949G>T	c.(949-951)Gct>Tct	p.A317S	MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000229854.7_Missense_Mutation_p.A272S|MCM3_ENST00000419835.2_Missense_Mutation_p.A226S	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	10	109	0	37	272	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			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GAGGGCTGAGCATCCTTGCTC	0.438000													1	1	1	1	1	1	0.997221	10	129	0	39	1	9.999965e-01	49	333	0	39	5
IMPG1	3617	broad.mit.edu	37	6	76715225	76715225	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:76715225G>A	ENST00000369950.3	-	10	1103	c.914C>T	c.(913-915)aCg>aTg	p.T305M	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	17	94	0	70	305	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGATGGCCGTAAGTTGCAT	0.448000													1	1	1	1	1	1	0.999999	21	100	0	73	0	0	0	0	0	73	5
DOPEY1	23033	broad.mit.edu	37	6	83846928	83846928	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:83846928G>T	ENST00000349129.2	+	21	3427	c.3167G>T	c.(3166-3168)gGt>gTt	p.G1056V	DOPEY1_ENST00000237163.5_Missense_Mutation_p.G1037V|DOPEY1_ENST00000369739.3_Missense_Mutation_p.G1047V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	9	47	0	25	1056					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		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)		AAAGGAAATGGTGAAAAGCCA	0.338000													1	1	1	1	1	1	0.997708	10	50	0	25	0	0	1	0	0	25	5
SYNE1	23345	broad.mit.edu	37	6	152823805	152823805	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:152823805T>A	ENST00000367255.5	-	10	1452	c.851A>T	c.(850-852)gAc>gTc	p.D284V	SYNE1_ENST00000367253.4_Missense_Mutation_p.D284V|SYNE1_ENST00000448038.1_Missense_Mutation_p.D291V|SYNE1_ENST00000367248.3_Missense_Mutation_p.D291V|SYNE1_ENST00000423061.1_Missense_Mutation_p.D291V|SYNE1_ENST00000466159.2_Missense_Mutation_p.D284V|SYNE1_ENST00000413186.2_Missense_Mutation_p.D284V|SYNE1_ENST00000341594.5_Missense_Mutation_p.D284V|SYNE1_ENST00000265368.4_Missense_Mutation_p.D284V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	9	44	0	41	284	Actin-binding.				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			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTGTGGATGTCAGGATAATG	0.373000										HNSCC(10;0.0054)			1	1	1	1	1	1	0.998820	11	55	0	47	0	0	0	0	0	47	5
AGMO	392636	broad.mit.edu	37	7	15405139	15405139	+	Splice_Site	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr7:15405139C>A	ENST00000342526.3	-	12	1432	c.1263_splice	c.e12+1	p.E421_splice		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	30	34	0	34	421					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			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AATGTCTTACCTCAAAAGCAG	0.408000													1	1	1	1	1	1	1.000000	31	36	0	36	0	9.593510e-01	0	9	0	36	5
ZNF680	340252	broad.mit.edu	37	7	63981662	63981662	+	Silent	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr7:63981662G>A	ENST00000309683.6	-	4	1621	c.1470C>T	c.(1468-1470)taC>taT	p.Y490Y		NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	6	102	0	47	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				CTTCACATTTGTAGGGTTTCT	0.383000													1	0	1	1	0	1	0.966225	6	114	0	50	1	4.469743e-01	3	24	0	50	3
TOX	9760	broad.mit.edu	37	8	59728107	59728107	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr8:59728107C>A	ENST00000361421.1	-	7	1402	c.1182G>T	c.(1180-1182)agG>agT	p.R394S		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	25	50	0	64	394						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		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)				GGGCTATGTTCCTGGGGAGAC	0.567000													1	1	1	1	1	1	1.000000	26	53	0	70	0	0	0	1	0	70	5
LRRCC1	85444	broad.mit.edu	37	8	86038971	86038971	+	Silent	SNP	T	T	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr8:86038971T>G	ENST00000414626.2	+	8	2149	c.1260T>G	c.(1258-1260)gcT>gcG	p.A420A	LRRCC1_ENST00000360375.3_Silent_p.A440A			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	13	24	0	52	440					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GATGGAGAGCTGAGCAAGCCG	0.373000													1	1	1	1	1	1	0.999962	15	28	0	59	1	9.960833e-01	6	16	0	59	5
RAD54B	25788	broad.mit.edu	37	8	95403998	95403998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr8:95403998G>A	ENST00000336148.5	-	10	1772	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	40	96	0	126	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GCTCCTGGTCGGCAAAAGACA	0.393000								Direct reversal of damage;Homologous recombination					1	1	1	1	1	1	1.000000	44	101	0	135	1	8.862742e-01	3	7	0	135	5
OR1N2	138882	broad.mit.edu	37	9	125315642	125315642	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr9:125315642C>A	ENST00000373688.2	+	1	252	c.194C>A	c.(193-195)gCc>gAc	p.A65D		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	45	44	0	149	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ATTATCCTGGCCATCAGCTCT	0.522000													1	1	1	1	1	1	1.000000	53	48	0	161	0	0	0	0	0	161	5
ZNF33B	7582	broad.mit.edu	37	10	43088129	43088129	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:43088129T>G	ENST00000359467.3	-	5	2383	c.2269A>C	c.(2269-2271)Acc>Ccc	p.T757P	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	27	116	0	96	757						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGAGAGAAGGTTTTCCTGCAT	0.358000													1	1	1	1	1	1	1.000000	29	127	0	106	1	9.996400e-01	7	14	0	106	5
MYPN	84665	broad.mit.edu	37	10	69918245	69918245	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:69918245G>T	ENST00000358913.5	+	7	1808	c.1320G>T	c.(1318-1320)atG>atT	p.M440I	MYPN_ENST00000354393.2_Missense_Mutation_p.M165I|MYPN_ENST00000540630.1_Missense_Mutation_p.M440I|MYPN_ENST00000373675.3_Missense_Mutation_p.M440I	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	4	37	0	26	440	Ig-like 2.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CATTATAGATGCTACAAAATT	0.363000													1	0	1	1	1	1	0.941142	5	42	0	29	0	0	0	0	0	29	4
ZSWIM8	23053	broad.mit.edu	37	10	75554072	75554072	+	Silent	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:75554072C>T	ENST00000604729.1	+	13	3090	c.2793C>T	c.(2791-2793)gaC>gaT	p.D931D	ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000604524.1_Silent_p.D931D|ZSWIM8_ENST00000605216.1_Silent_p.D931D|ZSWIM8_ENST00000603114.1_Silent_p.D898D|ZSWIM8_ENST00000398706.2_Silent_p.D931D					zinc finger, SWIM-type containing 8	110	43	0	126																		TCATCTTTGACGTTCTCTGTG	0.537000													1	1	1	1	1	1	1.000000	129	48	0	139	1	1	28	18	0	139	5
C10orf2	56652	broad.mit.edu	37	10	102748377	102748377	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:102748377G>T	ENST00000370228.1	+	1	595	c.410G>T	c.(409-411)aGg>aTg	p.R137M	C10orf2_ENST00000311916.2_Missense_Mutation_p.R137M|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	15	255	0	217	137					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			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		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)		GATGGGGCCAGGGAGGGGTTT	0.592000													1	1	1	1	0	1	0.999969	17	273	0	229	0	1.144828e-02	0	3	0	229	4
SORCS3	22986	broad.mit.edu	37	10	107007067	107007067	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:107007067T>A	ENST00000369701.3	+	22	3310	c.3083T>A	c.(3082-3084)gTc>gAc	p.V1028D	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	9	34	0	30	1028						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		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)		ATTGGCAATGTCATCAAGCGA	0.393000													1	1	1	1	1	1	0.997930	10	37	0	33	0	0	0	0	0	33	5
OR51Q1	390061	broad.mit.edu	37	11	5443752	5443752	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:5443752G>T	ENST00000300778.4	+	1	412	c.322G>T	c.(322-324)Gga>Tga	p.G108*	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	57	38	0	136	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		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)		CTTCCTTCATGGATTCTCCTT	0.502000													1	1	1	1	1	1	1.000000	57	40	0	136	0	0	0	0	0	136	5
NR1H3	10062	broad.mit.edu	37	11	47282969	47282969	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:47282969G>A	ENST00000467728.1	+	4	1915	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	NR1H3_ENST00000407404.1_Missense_Mutation_p.R226Q|NR1H3_ENST00000441012.2_Missense_Mutation_p.R226Q|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000527949.1_Missense_Mutation_p.R135Q|NR1H3_ENST00000395397.3_Missense_Mutation_p.R181Q|NR1H3_ENST00000405853.3_Missense_Mutation_p.R226Q|NR1H3_ENST00000481889.2_Missense_Mutation_p.R181Q|NR1H3_ENST00000405576.1_Missense_Mutation_p.R181Q			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	25	60	0	82	226	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	p.R226Q(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CAGTGTAACCGGCGCTCCTTT	0.622000													1	1	1	1	1	1	1.000000	27	69	0	87	1	9.650109e-01	4	13	0	87	5
OR9G1	390174	broad.mit.edu	37	11	56468604	56468604	+	Silent	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:56468604C>A	ENST00000312153.1	+	1	741	c.741C>A	c.(739-741)gtC>gtA	p.V247V		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1	36	211	0	291											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGACCTCTGTCACTTTATACT	0.453000													1	1	1	1	0	1	1.000000	38	230	0	317	0	0	0	0	0	317	4
TMPRSS4	56649	broad.mit.edu	37	11	117969704	117969704	+	Silent	SNP	C	C	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:117969704C>G	ENST00000534111.1	+	3	307	c.42C>G	c.(40-42)gtC>gtG	p.V14V	TMPRSS4_ENST00000523251.1_Intron|TMPRSS4_ENST00000522307.1_5'UTR|TMPRSS4_ENST00000437212.3_Silent_p.V16V|TMPRSS4_ENST00000522824.1_Silent_p.V16V	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4	17	48	0	91	16					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	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)		TTGCAGATGTCAAACCCCTGC	0.557000													1	1	1	1	1	1	0.999997	19	51	0	95	0	6.845022e-01	0	8	0	95	5
CD3E	916	broad.mit.edu	37	11	118178014	118178014	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:118178014G>A	ENST00000361763.4	+	3	352	c.61G>A	c.(61-63)Ggg>Agg	p.G21R	CD3E_ENST00000528600.1_Missense_Mutation_p.G21R	NM_000733.3	NP_000724.1	P07766	CD3E_HUMAN	CD3e molecule, epsilon (CD3-TCR complex)	13	9	0	26	21					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			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	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)	TGGCGTTTGGGGGCAAGATGG	0.378000													1	1	1	1	1	1	0.999997	16	9	0	29	0	9.166799e-01	1	4	0	29	5
KANSL2	54934	broad.mit.edu	37	12	49054403	49054403	+	Splice_Site	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:49054403C>A	ENST00000550347.1	-	7	1566		c.e7-1		KANSL2_ENST00000553086.1_Splice_Site|KANSL2_ENST00000548701.1_Splice_Site|KANSL2_ENST00000420613.2_Splice_Site			Q9H9L4	CL041_HUMAN	KAT8 regulatory NSL complex subunit 2	3	11	0	19																		TGACAAATATCTGTAGAAAAA	0.403000													1	0	1	1	1	1	0.899434	4	12	0	22	1	9.970036e-01	10	4	0	22	4
DCTN2	10540	broad.mit.edu	37	12	57924490	57924490	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:57924490C>T	ENST00000548249.1	-	14	1455	c.1188G>A	c.(1186-1188)atG>atA	p.M396I	DCTN2_ENST00000537439.1_Missense_Mutation_p.M373I|DCTN2_ENST00000434715.3_Missense_Mutation_p.M401I|DCTN2_ENST00000543672.1_Missense_Mutation_p.M401I	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	58	39	0	106	396					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CCAGCTTCTTCATCCGTTCAT	0.478000													1	1	1	1	1	1	1.000000	60	42	0	114	1	1	347	266	0	114	5
RP11-571M6.15	0	broad.mit.edu	37	12	58177020	58177020	+	Nonstop_Mutation	SNP	T	T	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:58177020T>C	ENST00000471530.1	+	2	229	c.229T>C	c.(229-231)Taa>Caa	p.*77Q	TSFM_ENST00000323833.8_Missense_Mutation_p.V62A|TSFM_ENST00000543727.1_Missense_Mutation_p.V62A|TSFM_ENST00000350762.5_5'UTR|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000548851.1_Missense_Mutation_p.V62A|TSFM_ENST00000550559.1_Missense_Mutation_p.V62A|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000454289.3_Missense_Mutation_p.V62A|TSFM_ENST00000540550.1_Missense_Mutation_p.V62A						59	101	0	177																		TACTCCTTTGTAAATTGCAAG	0.567000											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	0	1	1.000000	71	132	0	198	1	1	29	59	0	198	4
HCFC2	29915	broad.mit.edu	37	12	104492131	104492131	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:104492131C>T	ENST00000229330.4	+	13	1855	c.1751C>T	c.(1750-1752)cCt>cTt	p.P584L	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	8	27	0	33	584	Fibronectin type-III 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AAAGAGACTCCTTCAAATCCA	0.343000													1	1	1	1	1	1	0.992009	8	31	0	38	1	7.742272e-01	2	11	0	38	5
EP400	57634	broad.mit.edu	37	12	132489700	132489700	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:132489700C>T	ENST00000333577.4	+	14	3123	c.3014C>T	c.(3013-3015)cCt>cTt	p.P1005L	EP400_ENST00000389561.2_Missense_Mutation_p.P969L|EP400_ENST00000330386.6_Missense_Mutation_p.P969L|EP400_ENST00000332482.4_Missense_Mutation_p.P932L|EP400_ENST00000389562.2_Missense_Mutation_p.P968L			Q96L91	EP400_HUMAN	E1A binding protein p400	6	7	0	14	1005	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			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	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)		CGGCCGAAGCCTGATGGGGAG	0.567000													0	0	1	1	1	1	0.989857	7	8	0	14	0	6.253870e-01	1	3	0	14	3
RB1	5925	broad.mit.edu	37	13	48881414	48881414	+	Splice_Site	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr13:48881414A>G	ENST00000267163.4	+	2	275		c.e2-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	21	2	0	37						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?(15)|p.?(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		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)	TTCATTTGGTAGGCTTGAGTT	0.313000		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	1	1	1	1	1	1.000000	22	2	0	38	0	0	0	0	0	38	5
DCT	1638	broad.mit.edu	37	13	95114274	95114274	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr13:95114274A>T	ENST00000377028.5	-	5	1446	c.1033T>A	c.(1033-1035)Ttc>Atc	p.F345I	DCT_ENST00000446125.1_Missense_Mutation_p.F345I	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	11	25	0	31	345					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	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)		CTGAAACTGAAGGTAGAGTTC	0.458000													1	1	1	1	1	1	0.999129	11	28	0	34	0	0	0	0	0	34	5
TM9SF1	10548	broad.mit.edu	37	14	24679649	24679649	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:24679649T>A	ENST00000530611.1	-	5	548	c.515A>T	c.(514-516)gAa>gTa	p.E172V	CHMP4A_ENST00000347519.6_Missense_Mutation_p.E215V|CHMP4A_ENST00000542700.2_5'UTR|TM9SF1_ENST00000556387.1_Missense_Mutation_p.E172V|AL136419.6_ENST00000565988.1_RNA			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	106	141	0	212	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CTGGGCCAATTCCTCCTGCTC	0.483000													1	1	1	1	0	1	1.000000	115	172	0	245	1	1	103	135	0	245	4
KLHDC2	23588	broad.mit.edu	37	14	50249133	50249133	+	Silent	SNP	T	T	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:50249133T>G	ENST00000298307.5	+	11	1863	c.1002T>G	c.(1000-1002)gtT>gtG	p.V334V	KLHDC2_ENST00000554589.1_Silent_p.V334V|KLHDC2_ENST00000557247.1_3'UTR	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	16	42	0	49	334						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					AAGTAATTGTTTTTGGTGGAT	0.403000													1	1	1	1	1	1	0.999999	20	52	0	55	1	1	42	117	0	55	5
PPP2R5E	5529	broad.mit.edu	37	14	63858584	63858584	+	Splice_Site	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:63858584A>G	ENST00000337537.3	-	10	1507	c.903_splice	c.e10-1	p.V302_splice	PPP2R5E_ENST00000422769.2_Splice_Site_p.V226_splice|PPP2R5E_ENST00000555899.1_Splice_Site_p.V302_splice|PPP2R5E_ENST00000553266.1_5'UTR	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	13	40	0	49	302					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CCCCCTAATAACCTAAAATGA	0.299000													1	1	1	1	1	1	0.999971	16	50	0	55	1	9.921673e-01	12	17	0	55	5
RTL1	388015	broad.mit.edu	37	14	101349485	101349485	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:101349485G>C	ENST00000534062.1	-	1	1699	c.1641C>G	c.(1639-1641)caC>caG	p.H547Q		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	8	1	0	17	547										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGCTCATGCCGTGCCTCTCTA	0.602000													1	0	1	1	0	1	0.999015	8	1	0	17	0	0	0	1	0	17	3
CELF6	60677	broad.mit.edu	37	15	72608246	72608246	+	Silent	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr15:72608246G>A	ENST00000287202.5	-	2	539	c.285C>T	c.(283-285)tgC>tgT	p.C95C	RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000567083.1_Silent_p.C95C|CELF6_ENST00000539635.1_5'UTR	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	3	18	0	19	95	RRM 1.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						AGTCCCGGGCGCAGTAGGTGA	0.587000													1	0	1	1	0	1	0.895903	4	21	0	24	0	1.691297e-01	0	4	0	24	3
CREBBP	1387	broad.mit.edu	37	16	3778746	3778746	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:3778746A>G	ENST00000262367.5	-	31	7111	c.6302T>C	c.(6301-6303)aTc>aCc	p.I2101T	CREBBP_ENST00000382070.3_Missense_Mutation_p.I2063T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	195	20	0	288	2101					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			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCGCTGTTTGATGAAAGCTGC	0.612000			T, N, F, Mis, O	MLL, MORF, RUNXBP2	ALL, AML, DLBCL, B-NHL		Rubinstein-Taybi syndrome						1	1	1	1	1	1	1.000000	218	23	0	317	1	1	78	4	0	317	5
GTF3C1	2975	broad.mit.edu	37	16	27503992	27503992	+	Silent	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:27503992G>A	ENST00000356183.4	-	18	2934	c.2919C>T	c.(2917-2919)tgC>tgT	p.C973C	GTF3C1_ENST00000561623.1_Silent_p.C973C	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	83	80	0	121	973						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCCCATGTAGCACAGCCTCT	0.512000													1	1	1	1	1	1	1.000000	90	88	0	132	1	1	26	25	0	132	5
FAM65A	79567	broad.mit.edu	37	16	67579900	67579900	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:67579900C>T	ENST00000540839.3	+	21	3713	c.3493C>T	c.(3493-3495)Cga>Tga	p.R1165*	FAM65A_ENST00000379312.3_Nonsense_Mutation_p.R1150*|FAM65A_ENST00000428437.2_Nonsense_Mutation_p.R1160*|FAM65A_ENST00000422602.2_Nonsense_Mutation_p.R1166*|FAM65A_ENST00000042381.4_Nonsense_Mutation_p.R1146*			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	57	37	0	98	1150						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		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)		CGTGCAGACTCGAGTGGCTGG	0.657000													1	1	1	1	1	1	1.000000	68	42	0	113	1	1	33	62	0	113	5
PHLPP2	23035	broad.mit.edu	37	16	71701133	71701133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:71701133G>A	ENST00000393524.2	-	11	2465	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*	PHLPP2_ENST00000567016.1_Nonsense_Mutation_p.Q613*|PHLPP2_ENST00000356272.3_Nonsense_Mutation_p.Q578*|PHLPP2_ENST00000568954.1_Nonsense_Mutation_p.Q578*|PHLPP2_ENST00000360429.3_Nonsense_Mutation_p.Q578*			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	24	43	0	70	652						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GCATTATGCTGAAGATCCAGC	0.463000													1	1	1	1	1	1	1.000000	25	43	0	76	0	7.094564e-01	1	5	0	76	5
CNTNAP4	85445	broad.mit.edu	37	16	76587181	76587181	+	Splice_Site	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:76587181A>G	ENST00000307431.8	+	23	3826	c.3439_splice	c.e23-1	p.E1147_splice	CNTNAP4_ENST00000476707.1_Splice_Site_p.E1151_splice|CNTNAP4_ENST00000377504.4_Splice_Site_p.E1099_splice|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Splice_Site_p.E1075_splice	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	6	8	0	29	1148	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AATTTCTAGAACACAGTGATG	0.478000													1	1	1	1	1	1	0.995259	8	9	0	31	0	0	0	0	0	31	5
FAM92B	339145	broad.mit.edu	37	16	85135890	85135890	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:85135890G>A	ENST00000539556.1	-	7	736	c.581C>T	c.(580-582)gCc>gTc	p.A194V		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	12	35	0	67	194										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CACCGCTTTGGCATGGAAAAC	0.473000													1	1	1	1	1	1	0.999764	13	39	0	74	0	0	0	1	0	74	5
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr17:7577097C>T	ENST00000420246.2	-	8	973	c.841G>A	c.(841-843)Gac>Aac	p.D281N	TP53_ENST00000445888.2_Missense_Mutation_p.D281N|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.D281N|TP53_ENST00000359597.4_Missense_Mutation_p.D281N|TP53_ENST00000455263.2_Missense_Mutation_p.D281N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	18	5	0	40	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GTGCGCCGGTCTCTCCCAGGA	0.547000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	19	5	0	41	1	1	78	18	0	41	5
SLC35G3	146861	broad.mit.edu	37	17	33521054	33521054	+	Silent	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr17:33521054G>A	ENST00000297307.5	-	1	358	c.273C>T	c.(271-273)ggC>ggT	p.G91G		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	123	13	0	240	91	DUF6 1.					integral to membrane											GAAGGGGGTCGCCACGCAGTT	0.587000													1	1	1	1	1	1	1.000000	133	13	0	259	0	0	0	0	0	259	5
GAST	2520	broad.mit.edu	37	17	39872040	39872040	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr17:39872040G>C	ENST00000329402.3	+	3	289	c.222G>C	c.(220-222)aaG>aaC	p.K74N	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	23	114	0	136	74						extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCCGTCCAAGAAGCAGGGAC	0.557000													1	1	1	1	1	1	1.000000	24	133	0	158	0	0	0	0	0	158	5
PTPRM	5797	broad.mit.edu	37	18	8380347	8380347	+	Silent	SNP	A	A	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:8380347A>C	ENST00000332175.8	+	27	4838	c.3801A>C	c.(3799-3801)acA>acC	p.T1267T	PTPRM_ENST00000400060.4_Silent_p.T1281T|PTPRM_ENST00000444013.1_Silent_p.T1054T|PTPRM_ENST00000580170.1_Silent_p.T1280T|PTPRM_ENST00000400053.4_Silent_p.T1205T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	16	84	0	56	1267	Tyrosine-protein phosphatase 2.				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			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGCCAAACACAGTGAAAGACT	0.443000													1	1	1	1	1	1	0.999980	17	88	0	62	1	9.990420e-01	7	56	0	62	5
APCDD1	147495	broad.mit.edu	37	18	10487757	10487757	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:10487757G>A	ENST00000355285.4	+	5	1621	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K		NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	27	167	0	95	423					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CACGGAGTACGAGATCTTCAA	0.627000													1	1	1	1	1	1	1.000000	28	176	0	103	1	1	55	372	0	103	5
SLC14A2	8170	broad.mit.edu	37	18	43248429	43248429	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:43248429A>T	ENST00000255226.6	+	15	2839	c.2023A>T	c.(2023-2025)Atg>Ttg	p.M675L	SLC14A2_ENST00000586448.1_Missense_Mutation_p.M675L|SLC14A2_ENST00000589658.1_Missense_Mutation_p.M152L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	16	88	0	54	675						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGTCATCATCATGTCCATGTC	0.498000													1	1	1	1	1	1	0.999989	18	96	0	58	0	2.799882e-02	0	2	0	58	5
MUC16	94025	broad.mit.edu	37	19	9073782	9073782	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:9073782A>G	ENST00000397910.4	-	3	13867	c.13664T>C	c.(13663-13665)cTc>cCc	p.L4555P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13	18	0	59	4557	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGACTGGGAGAGTGGAATG	0.493000													1	1	1	1	1	1	0.999943	14	19	0	63	0	0	0	0	0	63	5
SUPT5H	6829	broad.mit.edu	37	19	39962347	39962347	+	Silent	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:39962347C>T	ENST00000599117.1	+	21	2294	c.1927C>T	c.(1927-1929)Ctg>Ttg	p.L643L	SUPT5H_ENST00000432763.2_Silent_p.L643L|SUPT5H_ENST00000402194.2_Silent_p.L639L|SUPT5H_ENST00000359191.6_Silent_p.L639L|SUPT5H_ENST00000598725.1_Silent_p.L643L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	10	47	0	50	643					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			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	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)			GACCCGCCACCTGGTGCTGGC	0.602000													1	1	1	1	1	1	0.999969	16	53	0	52	1	1	40	139	0	52	5
KIR3DX1	0	broad.mit.edu	37	19	55045110	55045110	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:55045110A>G	ENST00000335056.3	+	3	268	c.230A>G	c.(229-231)aAc>aGc	p.N77S							10	48	0	49											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GGCCTTTCCAACAACATCACC	0.507000													1	1	1	1	1	1	0.998835	11	53	0	54	0	0	0	0	0	54	5
NELFCD	51497	broad.mit.edu	37	20	57564966	57564966	+	Silent	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr20:57564966C>T	ENST00000602795.1	+	7	813	c.765C>T	c.(763-765)tcC>tcT	p.S255S	NELFCD_ENST00000344018.3_Silent_p.S246S					negative elongation factor complex member C/D	24	102	0	95																		CCATGATGTCCGTGCTGGCCC	0.617000													1	1	1	1	1	1	1.000000	26	105	0	98	1	1	15	135	0	98	5
DEPDC5	9681	broad.mit.edu	37	22	32232998	32232998	+	Silent	SNP	T	T	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr22:32232998T>C	ENST00000400246.1	+	26	2353	c.2211T>C	c.(2209-2211)tgT>tgC	p.C737C	DEPDC5_ENST00000382105.2_Silent_p.C659C|DEPDC5_ENST00000382111.2_Silent_p.C737C|DEPDC5_ENST00000382112.3_Silent_p.C728C|DEPDC5_ENST00000266091.3_Silent_p.C737C|DEPDC5_ENST00000400248.1_Silent_p.C728C|DEPDC5_ENST00000400249.2_Silent_p.C728C|DEPDC5_ENST00000535622.1_Silent_p.C659C			O75140	DEPD5_HUMAN	DEP domain containing 5	30	36	0	107	728					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGGCTTCTGTTGCACAGTTG	0.577000													1	1	1	1	1	1	1.000000	35	39	0	120	1	9.646936e-01	2	7	0	120	5
RPS6KA6	27330	broad.mit.edu	37	X	83403058	83403058	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chrX:83403058G>A	ENST00000262752.2	-	4	339	c.332C>T	c.(331-333)tCt>tTt	p.S111F	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.S111F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	9	14	0	27	111	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	p.S111F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ACCTTTTAAAGAGGCTTTTTT	0.299000													1	1	1	1	1	1	0.999743	12	16	0	28	0	0	0	0	0	28	5
KIF14	9928	broad.mit.edu	37	1	200584490	200584491	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:200584490_200584491insT	ENST00000367350.4	-	3	1797_1798	c.1359_1360insA	c.(1357-1362)aacatafs	p.NI453fs		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	37	48	0	65	453	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TACGTATATGATTTTCCAGAGC	0.381000													1	1	1	1	0	1	1.000000	37	85	0	66	0	6.949996e-14	0	1	0	66	4
HAT1	8520	broad.mit.edu	37	2	172822005	172822007	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08			AGG	-	AGG	AGG		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:172822005_172822007delAGG	ENST00000264108.4	+	5	492_494	c.456_458delAGG	c.(454-459)aca>ac	p.TG152del	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_In_Frame_Del_p.TG67del	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	7	23	0	32	152					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TCAGTCCAACAGGAGGAGAAAAC	0.335000													1	0	1	1	0	1	0.984295	7	30	0	32	1	9.998519e-01	9	89	0	32	3
TET2	54790	broad.mit.edu	37	4	106157271	106157271	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:106157271delT	ENST00000540549.1	+	3	3032	c.2172delT	c.(2170-2172)cafs	p.H724fs	TET2_ENST00000305737.2_Frame_Shift_Del_p.H724fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.H724fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.H724fs|TET2_ENST00000380013.4_Frame_Shift_Del_p.H724fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.H724fs|TET2_ENST00000513237.1_Frame_Shift_Del_p.H745fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	20	22	0	86	724	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.H724fs*29(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATAAGCCTCATAAACAGGCAG	0.408000			Mis N, F		MDS								1	1	1	1	0	1	0.999999	20	42	0	87							4
SEC23IP	11196	broad.mit.edu	37	10	121668600	121668601	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:121668600_121668601delAG	ENST00000369075.3	+	5	1221_1222	c.1149_1150delAG	c.(1147-1152)ttagfs	p.LE383fs	SEC23IP_ENST00000543134.1_Frame_Shift_Del_p.LE172fs	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	10	46	0	41	383					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACCGAAGATTAGAGTTTCCAAG	0.327000													1	1	1	1	0	1	0.997633	10	56	0	42	1	8.010941e-01	2	17	0	42	4
OMA1	115209	broad.mit.edu	37	1	59004951	59004951	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:59004951C>T	ENST00000371226.3	-	2	129	c.16G>A	c.(16-18)Gga>Aga	p.G6R	OMA1_ENST00000467063.1_Intron|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.G6R	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	12	25	0	48	6					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GACTGCAATCCACAGATGAAG	0.363000													1	0	1	1	0	1	0.999830	13	25	0	50	1	5.625999e-01	2	3	0	50	3
SETDB1	9869	broad.mit.edu	37	1	150933333	150933333	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:150933333G>A	ENST00000271640.5	+	16	2985	c.2795G>A	c.(2794-2796)cGg>cAg	p.R932Q	SETDB1_ENST00000368969.4_Missense_Mutation_p.R932Q|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	41	65	0	103	932	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			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	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)			AGGCAGACCCGGGGCCAGAAA	0.532000													1	1	1	1	1	1	1.000000	46	69	0	109	1	1	29	65	0	109	5
RORC	0	broad.mit.edu	37	1	151789213	151789213	+	Silent	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:151789213G>A	ENST00000356728.6	-	3	316	c.162C>T	c.(160-162)atC>atT	p.I54I	RORC_ENST00000392697.3_Silent_p.I129I|RORC_ENST00000318247.6_Silent_p.I75I	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	7	6	0	21	75					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			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGTGCGGTCGATGGGGCAGT	0.657000													1	0	0	1	1	1	0.995950	8	7	0	22	0	5.417957e-01	0	3	0	22	3
KPRP	448834	broad.mit.edu	37	1	152732884	152732884	+	Missense_Mutation	SNP	C	C	T	rs148079077		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:152732884C>T	ENST00000368773.1	+	2	878	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	KPRP_ENST00000606109.1_Missense_Mutation_p.R274C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	63	39	0	99	274	Pro-rich.					cytoplasm		p.R274C(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCACCAAGACGTTTTGAGCC	0.592000													1	1	1	1	1	1	1.000000	64	39	0	105	0	0	0	0	0	105	5
CACNA1E	777	broad.mit.edu	37	1	181702035	181702035	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:181702035G>A	ENST00000526775.1	+	19	2921	c.2756G>A	c.(2755-2757)cGg>cAg	p.R919Q	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R938Q|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R545Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R889Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R938Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R870Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R919Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	46	90	0	162	938					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R938Q(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCAGCCTCCCGGAGCAGGTCT	0.642000													1	0	1	1	1	1	1.000000	51	100	0	175	0	0	0	0	0	175	4
MARC2	54996	broad.mit.edu	37	1	220936325	220936325	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr1:220936325A>G	ENST00000366913.3	+	4	881	c.683A>G	c.(682-684)gAg>gGg	p.E228G	MARC2_ENST00000359316.2_Missense_Mutation_p.E228G	NM_017898.3	NP_060368.2	Q969Z3	MOSC2_HUMAN	mitochondrial amidoxime reducing component 2	29	53	1	85	228	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										ACCAGGATGGAGAAGAAAATG	0.493000													1	0	1	1	1	1	1.000000	29	56	1	90	1	8.962774e-01	6	4	1	90	4
C2orf71	388939	broad.mit.edu	37	2	29293880	29293880	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:29293880G>A	ENST00000331664.5	-	1	3247	c.3248C>T	c.(3247-3249)cCt>cTt	p.P1083L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	44	96	0	150	1083	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AATCGAGAAAGGGGGGCTTGC	0.602000													1	1	1	1	0	1	1.000000	46	101	0	160	0	0	0	0	0	160	4
CHRNA1	1134	broad.mit.edu	37	2	175624069	175624069	+	Missense_Mutation	SNP	C	C	A	rs147488907	byFrequency	TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:175624069C>A	ENST00000348749.5	-	3	301	c.224G>T	c.(223-225)cGt>cTt	p.R75L	CHRNA1_ENST00000409323.1_Missense_Mutation_p.R75L|CHRNA1_ENST00000261007.5_Missense_Mutation_p.R75L|CHRNA1_ENST00000409542.1_Missense_Mutation_p.R75L|CHRNA1_ENST00000409219.1_Missense_Mutation_p.R75L|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	7	71	0	63	75					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CTGTTTCAGACGCACATTGGT	0.443000													1	1	1	1	0	1	0.982149	7	77	0	68	0	6.522227e-01	0	25	0	68	4
TTN	7273	broad.mit.edu	37	2	179594664	179594664	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:179594664G>C	ENST00000589042.1	-	63	18540	c.18316C>G	c.(18316-18318)Caa>Gaa	p.Q6106E	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q5789E|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q4862E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9	18	0	39	5789	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAATGAATTGAGGAGGTTCT	0.438000													1	1	1	1	1	1	0.996773	9	19	0	40	0	0	0	0	0	40	5
INO80D	54891	broad.mit.edu	37	2	206921004	206921004	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:206921004G>C	ENST00000403263.1	-	4	1286	c.882C>G	c.(880-882)ttC>ttG	p.F294L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	25	60	0	77	294					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TTATACATGAGAAGTGTGGAG	0.517000													1	1	1	1	1	1	1.000000	26	62	0	78	0	9.230769e-02	0	2	0	78	5
DYTN	391475	broad.mit.edu	37	2	207569605	207569605	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr2:207569605G>A	ENST00000452335.2	-	5	561	c.445C>T	c.(445-447)Cga>Tga	p.R149*	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	17	11	0	39	149						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AAAACCCTTCGAGTCATGCGT	0.358000													1	1	1	1	1	1	0.999999	18	14	0	45	0	0	0	1	0	45	5
CLASP2	23122	broad.mit.edu	37	3	33592874	33592874	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:33592874A>G	ENST00000399362.4	-	30	3397	c.3044T>C	c.(3043-3045)aTc>aCc	p.I1015T	CLASP2_ENST00000461133.3_Missense_Mutation_p.I775T|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1007T|CLASP2_ENST00000480013.1_Missense_Mutation_p.I795T|CLASP2_ENST00000307312.7_Missense_Mutation_p.I497T|CLASP2_ENST00000468888.2_Missense_Mutation_p.I1016T|CLASP2_ENST00000539981.1_Missense_Mutation_p.I785T	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	4	30	0	46	1017										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GTATTTAAGGATAGCAACCTT	0.408000													1	0	1	1	1	1	0.941927	5	34	0	46	0	5.553320e-01	1	12	0	46	4
UQCRC1	7384	broad.mit.edu	37	3	48637920	48637920	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:48637920A>T	ENST00000203407.5	-	10	1624	c.1208T>A	c.(1207-1209)cTa>cAa	p.L403Q		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	20	1	0	64	403					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CTCACCATCTAGATGAGATAC	0.567000													1	1	1	1	1	1	1.000000	21	1	0	70	1	1	264	18	0	70	5
PIK3CA	5290	broad.mit.edu	37	3	178952119	178952119	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:178952119C>G	ENST00000263967.3	+	21	3331	c.3174C>G	c.(3172-3174)atC>atG	p.I1058M		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	32	47	0	85	1058	PI3K/PI4K.				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			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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)			TGGATTGGATCTTCCACACAA	0.398000		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	34	52	0	92	1	1	43	60	0	92	5
NDUFB5	4711	broad.mit.edu	37	3	179332847	179332847	+	Splice_Site	SNP	G	G	A	rs11539675		TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr3:179332847G>A	ENST00000259037.3	+	2	327	c.213_splice	c.e2+1	p.L71_splice	NDUFB5_ENST00000493866.1_Intron|NDUFB5_ENST00000473500.1_Intron|NDUFB5_ENST00000472629.1_Intron	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	15	39	0	37	71					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	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)	TGAAGTTATTGGTAAGTTTAA	0.318000													1	1	1	1	1	1	0.999975	16	41	0	39	1	1	13	409	0	39	5
FBXW7	0	broad.mit.edu	37	4	153249510	153249510	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr4:153249510C>A	ENST00000281708.4	-	9	2497	c.1268G>T	c.(1267-1269)gGa>gTa	p.G423V	FBXW7_ENST00000393956.3_Missense_Mutation_p.G247V|FBXW7_ENST00000603548.1_Missense_Mutation_p.G423V|FBXW7_ENST00000263981.5_Missense_Mutation_p.G343V|FBXW7_ENST00000296555.5_Missense_Mutation_p.G305V|FBXW7_ENST00000603841.1_Missense_Mutation_p.G423V	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	47	61	0	159	423					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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.G423V(7)|p.G343V(2)|p.G305V(2)|p.G184V(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGACCATACTCCACCTGTATG	0.373000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	50	68	0	174	0	9.835739e-01	1	11	0	174	5
RGS14	10636	broad.mit.edu	37	5	176793982	176793982	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr5:176793982G>A	ENST00000408923.3	+	5	618	c.430G>A	c.(430-432)Gag>Aag	p.E144K		NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	34	59	0	63	144	RGS.				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			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	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)			CTGGCTTGGCGAGGAGGTGCT	0.637000													1	1	1	1	0	1	1.000000	38	61	0	64	1	9.999999e-01	16	36	0	64	4
HIST1H3F	8968	broad.mit.edu	37	6	26250542	26250542	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr6:26250542C>G	ENST00000446824.2	-	1	293	c.292G>C	c.(292-294)Gag>Cag	p.E98Q		NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	37	18	0	192	98					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.E98K(1)		lung(6)|urinary_tract(1)	7						AGGTAAGCCTCGCAGGCCTCC	0.602000											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	39	19	0	202	0	0	0	0	0	202	5
DST	667	broad.mit.edu	37	6	56357765	56357765	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr6:56357765C>A	ENST00000370754.5	-	84	20423	c.20424G>T	c.(20422-20424)ttG>ttT	p.L6808F	DST_ENST00000370788.2_Missense_Mutation_p.L4433F|DST_ENST00000244364.6_Missense_Mutation_p.L4216F|DST_ENST00000421834.2_Missense_Mutation_p.L4542F|DST_ENST00000446842.2_Missense_Mutation_p.L6304F|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.L6519F|DST_ENST00000370769.4_Missense_Mutation_p.L6630F			Q03001	DYST_HUMAN	dystonin	5	12	0	19	6628					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|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.L4216F(1)|p.L6630F(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGACTGTGTCCAAGATGAGAC	0.398000													1	0	1	1	1	1	0.974550	6	12	0	21	1	9.959273e-01	12	17	0	21	4
THSD7A	221981	broad.mit.edu	37	7	11871427	11871427	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:11871427G>A	ENST00000423059.3	-	1	397	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	10	9	0	19	49						integral to membrane		p.A49V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTCGCCCTGCGCCGCAGCCCT	0.706000										HNSCC(18;0.044)			1	1	1	1	0	1	0.999577	11	11	0	20	1	6.733333e-01	3	1	0	20	4
ZP3	7784	broad.mit.edu	37	7	76054351	76054351	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:76054351C>A	ENST00000394857.3	+	1	128	c.70C>A	c.(70-72)Ccc>Acc	p.P24T	ZP3_ENST00000336517.4_Intron	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	4	14	0	18	24					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			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CTACCCCCAACCCCTCTGGCT	0.602000													0	0	1	1	1	1	0.898298	4	14	0	18	0	0	0	0	0	18	3
MUC17	140453	broad.mit.edu	37	7	100683707	100683707	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:100683707G>T	ENST00000306151.4	+	3	9074	c.9010G>T	c.(9010-9012)Gct>Tct	p.A3004S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	173	478	0	622	3004	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGTTCTGAGGCTAGCACCCT	0.517000													1	1	1	1	1	1	1.000000	177	503	0	653	0	0	0	0	0	653	5
FSCN3	29999	broad.mit.edu	37	7	127235409	127235409	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:127235409C>T	ENST00000265825.5	+	2	412	c.193C>T	c.(193-195)Cga>Tga	p.R65*	FSCN3_ENST00000478328.1_3'UTR|FSCN3_ENST00000420086.2_5'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	27	75	0	77	65						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCGTGGTGCGACTAAAGAG	0.562000													1	1	1	1	1	1	1.000000	30	86	0	87	0	0	0	1	0	87	5
MGAM	8972	broad.mit.edu	37	7	141800609	141800609	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:141800609A>G	ENST00000475668.2	+	68	7936	c.7882A>G	c.(7882-7884)Aaa>Gaa	p.K2628E	MGAM_ENST00000549489.2_Missense_Mutation_p.K1732E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	5	6	0	17	1732					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGCCGCCAGAAATTCATGGG	0.483000													0	1	1	1	1	1	0.955310	5	6	0	17	0	0	0	0	0	17	4
ZNF775	285971	broad.mit.edu	37	7	150094611	150094611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr7:150094611C>T	ENST00000329630.5	+	3	1149	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	5	14	0	10	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCTTCCGCCAGAAGCAGCA	0.741000													0	0	1	0	0	1	0.946083	5	16	0	11	1	7.276550e-01	4	6	0	11	1
FAM135B	51059	broad.mit.edu	37	8	139164617	139164617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr8:139164617G>A	ENST00000395297.1	-	13	2271	c.2101C>T	c.(2101-2103)Cga>Tga	p.R701*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	16	30	0	64	701										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	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)			GCCCTGCTTCGGGCCTCTGAC	0.557000										HNSCC(54;0.14)			1	1	1	1	1	1	0.999981	16	31	0	65	0	0	0	0	0	65	5
ADAMTSL1	92949	broad.mit.edu	37	9	18775890	18775890	+	Silent	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr9:18775890T>C	ENST00000380548.4	+	18	2886	c.2547T>C	c.(2545-2547)tgT>tgC	p.C849C		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	11	12	0	19	849	TSP type-1 7.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGGCAACCTGTGCAAGTAAGT	0.557000													1	1	1	1	1	1	0.999809	12	12	0	19	1	9.995262e-01	14	7	0	19	5
ZNF462	58499	broad.mit.edu	37	9	109765634	109765634	+	Silent	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr9:109765634G>A	ENST00000277225.5	+	11	7405	c.7116G>A	c.(7114-7116)aaG>aaA	p.K2372K	ZNF462_ENST00000542028.1_Silent_p.K329K|ZNF462_ENST00000441147.2_Silent_p.K1278K|ZNF462_ENST00000457913.1_Silent_p.K2432K|RP11-508N12.2_ENST00000439901.1_RNA			Q96JM2	ZN462_HUMAN	zinc finger protein 462	5	101	0	93	2372					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AACAGATGAAGGAGAAAATGG	0.473000													1	1	1	1	0	1	0.966273	6	110	0	98	0	3.895618e-01	1	22	0	98	4
SUV39H2	79723	broad.mit.edu	37	10	14939228	14939228	+	Silent	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr10:14939228T>C	ENST00000313519.5	+	2	612	c.381T>C	c.(379-381)gcT>gcC	p.A127A	SUV39H2_ENST00000354919.6_Silent_p.A187A|SUV39H2_ENST00000378325.3_Intron	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	34	46	0	121	187					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)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TCAATGAAGCTACCTTTGGTT	0.363000													1	1	1	1	1	1	1.000000	36	47	0	131	1	9.999761e-01	7	16	0	131	5
CUBN	8029	broad.mit.edu	37	10	16882377	16882377	+	Silent	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr10:16882377G>C	ENST00000377833.4	-	62	10049	c.9984C>G	c.(9982-9984)acC>acG	p.T3328T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	14	20	0	71	3328	CUB 25.				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			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTCTTGCGAGGTCAGCTGTA	0.463000													1	1	1	1	1	1	0.999995	17	21	0	80	0	2.085366e-01	0	2	0	80	5
UBE2L6	9246	broad.mit.edu	37	11	57335061	57335061	+	Silent	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr11:57335061C>A	ENST00000287156.4	-	1	219	c.24G>T	c.(22-24)gtG>gtT	p.V8V	UBE2L6_ENST00000340573.4_Intron	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	5	10	0	25	8					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						CGGTTACCTTCACCACTCGCA	0.662000													1	0	1	1	0	1	0.975837	6	10	0	26	1	9.999999e-01	70	86	0	26	3
GRIA4	0	broad.mit.edu	37	11	105483157	105483157	+	Silent	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr11:105483157C>T	ENST00000393127.2	+	3	689	c.243C>T	c.(241-243)aaC>aaT	p.N81N	GRIA4_ENST00000282499.5_Silent_p.N81N|GRIA4_ENST00000530497.1_Silent_p.N81N|GRIA4_ENST00000428631.2_Silent_p.N81N|GRIA4_ENST00000393125.2_Silent_p.N81N|GRIA4_ENST00000527669.1_Silent_p.N81N|GRIA4_ENST00000525187.1_Silent_p.N81N	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	11	4	0	44	81					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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		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)	CTGTAACAAACGCCTGTAAGT	0.363000													1	1	1	1	1	1	0.999936	12	5	0	48	1	9.858581e-01	7	0	0	48	5
SDR9C7	121214	broad.mit.edu	37	12	57327822	57327822	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr12:57327822G>T	ENST00000293502.1	-	1	367	c.224C>A	c.(223-225)aCc>aAc	p.T75N		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	56	35	0	99	75						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CAGTAGGGTGGTCTGCAGCCG	0.577000													1	1	1	1	1	1	1.000000	61	38	0	105	1	6.662727e-01	3	0	0	105	5
ZIC2	7546	broad.mit.edu	37	13	100634935	100634935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr13:100634935C>A	ENST00000376335.3	+	1	910	c.617C>A	c.(616-618)tCg>tAg	p.S206*		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	11	101	0	67	206	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			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GACCCCTACTCGGCGGCGCAA	0.662000													1	1	1	1	0	1	0.999635	13	107	0	73	0	3.627371e-01	0	11	0	73	4
OR4N5	390437	broad.mit.edu	37	14	20612258	20612258	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr14:20612258C>A	ENST00000333629.1	+	1	364	c.364C>A	c.(364-366)Cgc>Agc	p.R122S		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	51	78	0	231	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GGCCTTTGACCGCTACATCGC	0.483000													1	1	1	1	1	1	1.000000	53	85	0	251	0	0	0	0	0	251	5
RASGRP1	10125	broad.mit.edu	37	15	38811527	38811527	+	Silent	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:38811527C>T	ENST00000310803.5	-	4	549	c.372G>A	c.(370-372)aaG>aaA	p.K124K	RASGRP1_ENST00000559830.1_Silent_p.K124K|RASGRP1_ENST00000450598.2_Silent_p.K124K|RASGRP1_ENST00000539159.1_Silent_p.K76K|RASGRP1_ENST00000558164.1_Silent_p.K124K|RASGRP1_ENST00000561180.1_Silent_p.K175K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	27	32	0	97	124	N-terminal Ras-GEF.				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			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		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)		AATAACAGATCTTCAGGCAAA	0.413000													1	1	1	1	1	1	1.000000	31	35	0	106	0	0	0	0	0	106	5
MAPK6	5597	broad.mit.edu	37	15	52356849	52356849	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:52356849C>G	ENST00000261845.5	+	6	2625	c.1818C>G	c.(1816-1818)ttC>ttG	p.F606L	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	25	31	0	91	606					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		ACTGTTTTTTCATAAATCAGT	0.403000													1	1	1	1	1	1	1.000000	25	33	0	96	1	9.999997e-01	20	25	0	96	5
WDR72	256764	broad.mit.edu	37	15	54003562	54003562	+	Silent	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr15:54003562A>G	ENST00000396328.1	-	8	1067	c.828T>C	c.(826-828)ggT>ggC	p.G276G	WDR72_ENST00000360509.5_Silent_p.G276G|WDR72_ENST00000559418.1_Silent_p.G276G|WDR72_ENST00000557913.1_Silent_p.G275G	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	5	38	0	68	276										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTAACTGTGACCATCTTCTG	0.438000													1	1	1	1	1	1	0.941224	5	41	0	72	0	0	0	0	0	72	5
ZNF19	7567	broad.mit.edu	37	16	71509657	71509657	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr16:71509657T>C	ENST00000288177.5	-	6	1048	c.793A>G	c.(793-795)Aga>Gga	p.R265G	AC010547.9_ENST00000561908.1_Intron|ZNF19_ENST00000564230.1_Missense_Mutation_p.R265G|ZNF19_ENST00000565100.2_Missense_Mutation_p.R195G|ZNF19_ENST00000565637.1_Missense_Mutation_p.R223G|ZNF19_ENST00000567225.1_Intron	NM_006961.3	NP_008892.2	P17023	ZNF19_HUMAN	zinc finger protein 19	31	43	0	102	265						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		GTGTGGATTCTCTGATGTATA	0.453000													1	1	1	1	1	1	1.000000	33	49	0	111	0	6.651357e-01	1	4	0	111	5
SPG7	6687	broad.mit.edu	37	16	89620289	89620289	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr16:89620289C>T	ENST00000268704.2	+	15	2039	c.2024C>T	c.(2023-2025)tCc>tTc	p.S675F		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	42	48	0	96	675					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			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		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)		GGGCCCATCTCCTTCCCTGAG	0.662000													1	1	1	1	1	1	1.000000	44	50	0	101	1	1	44	61	0	101	5
C1QBP	708	broad.mit.edu	37	17	5338195	5338195	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:5338195C>T	ENST00000225698.4	-	3	556	c.475G>A	c.(475-477)Gag>Aag	p.E159K	C1QBP_ENST00000574444.1_Missense_Mutation_p.E55K	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	4	43	0	63	159					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				lung(2)|ovary(1)	3						TAGCTTACCTCCTGTTCTTCA	0.438000													0	0	1	0	0	1	0.893113	4	46	0	69	1	9.999959e-01	58	721	0	69	1
MYO15A	51168	broad.mit.edu	37	17	18060487	18060487	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:18060487G>A	ENST00000205890.5	+	50	9069	c.8731G>A	c.(8731-8733)Gtg>Atg	p.V2911M	MYO15A_ENST00000418233.3_Missense_Mutation_p.V175M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	9	23	0	19	2911	SH3.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.V2911M(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCTGGCTGCGTGGTTCGCAG	0.672000													1	1	1	1	1	1	0.999186	11	25	0	20	0	0	0	0	0	20	5
WNT9B	7484	broad.mit.edu	37	17	44952563	44952563	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:44952563C>G	ENST00000393461.2	+	3	484	c.431C>G	c.(430-432)aCc>aGc	p.T144S	WNT9B_ENST00000290015.2_Missense_Mutation_p.T144S			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	118	9	0	193	144					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			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAGCGCTGCACCTGTGATGAC	0.647000													1	1	1	1	1	1	1.000000	123	9	0	197	0	0	0	0	0	197	5
SPOP	8405	broad.mit.edu	37	17	47696730	47696730	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:47696730G>C	ENST00000393331.3	-	6	688	c.218C>G	c.(217-219)cCc>cGc	p.P73R	SPOP_ENST00000504102.1_Missense_Mutation_p.P73R|SPOP_ENST00000503676.1_Missense_Mutation_p.P73R|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000393328.2_Missense_Mutation_p.P73R|SPOP_ENST00000347630.2_Missense_Mutation_p.P73R	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	25	2	0	41	73	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TAACCCTTTGGGGTTTACTCG	0.393000										Prostate(2;0.17)			1	1	1	1	1	1	1.000000	27	2	0	41	1	1	64	6	0	41	5
TCEB3C	162699	broad.mit.edu	37	18	44554604	44554604	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr18:44554604C>T	ENST00000330682.2	-	1	1845	c.1610G>A	c.(1609-1611)cGa>cAa	p.R537Q	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	8	394	0	878	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTTGTAGTCTCGAATTGCCTT	0.602000													0	0	1	0	0	1	0.996946	10	456	0	690	1	5.598149e-02	14	0	0	690	1
ZNF536	9745	broad.mit.edu	37	19	30935256	30935256	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:30935256G>C	ENST00000355537.3	+	2	934	c.787G>C	c.(787-789)Gtg>Ctg	p.V263L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	6	124	0	47	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCTGCCAGCGTGCAGGAGGA	0.711000													1	1	1	1	0	1	0.966108	6	125	0	47	0	2.745836e-02	0	5	0	47	4
WDR88	126248	broad.mit.edu	37	19	33639792	33639792	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:33639792A>G	ENST00000361680.2	+	5	733	c.655A>G	c.(655-657)Atc>Gtc	p.I219V	WDR88_ENST00000355868.3_Missense_Mutation_p.I219V			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	28	120	0	105	219										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CGCCGAGAACATCACCACCGT	0.502000													1	1	1	1	1	1	1.000000	30	123	0	110	0	0	0	0	0	110	5
ZNF585A	199704	broad.mit.edu	37	19	37644265	37644265	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr19:37644265G>C	ENST00000356958.4	-	5	794	c.536C>G	c.(535-537)aCc>aGc	p.T179S	ZNF585A_ENST00000355533.2_Missense_Mutation_p.T124S|ZNF585A_ENST00000292841.5_Missense_Mutation_p.T124S|ZNF585A_ENST00000392157.2_Missense_Mutation_p.T124S|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	23	105	0	96	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCATATGGGTTTTCTGGTG	0.388000													1	1	1	1	1	1	1.000000	23	107	0	102	0	3.008128e-01	1	5	0	102	5
MATN4	8785	broad.mit.edu	37	20	43933030	43933030	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr20:43933030C>T	ENST00000537548.1	-	4	725	c.481G>A	c.(481-483)Gcg>Acg	p.A161T	MATN4_ENST00000342716.4_Missense_Mutation_p.A161T|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000353917.5_Missense_Mutation_p.A161T|MATN4_ENST00000372754.1_Missense_Mutation_p.A161T|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000372756.1_Missense_Mutation_p.A161T|MATN4_ENST00000360607.5_Missense_Mutation_p.A161T			O95460	MATN4_HUMAN	matrilin 4	21	203	0	34	161	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGGGCGCGCGCCTGTGCCGCC	0.741000													1	1	1	1	0	1	0.999998	21	214	0	35	0	0	0	0	0	35	4
MC3R	4159	broad.mit.edu	37	20	54824467	54824467	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr20:54824467G>A	ENST00000243911.2	+	1	680	c.568G>A	c.(568-570)Gtg>Atg	p.V190M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	53	45	0	117	227					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			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AATGGTCATTGTGTGCCTCAT	0.577000													1	1	1	1	1	1	1.000000	55	45	0	124	0	0	0	0	0	124	5
TIAM1	7074	broad.mit.edu	37	21	32624411	32624411	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr21:32624411G>C	ENST00000286827.3	-	6	1529	c.1058C>G	c.(1057-1059)aCc>aGc	p.T353S	TIAM1_ENST00000541036.1_Missense_Mutation_p.T353S|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	96	221	0	292	353					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			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCTGGAGTTGGTGGCATTAGA	0.622000													1	0	1	1	1	1	1.000000	104	241	0	319	1	9.727186e-01	10	6	0	319	4
RGAG4	340526	broad.mit.edu	37	X	71350557	71350557	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrX:71350557T>A	ENST00000545866.1	-	1	1201	c.834A>T	c.(832-834)aaA>aaT	p.K278N	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.K278N			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	56	70	0	204	278										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CCGACAGGCCTTTGAGGAATT	0.502000													1	1	1	1	1	1	1.000000	60	74	0	213	1	9.999831e-01	2	24	0	213	5
CXorf57	55086	broad.mit.edu	37	X	105876451	105876451	+	Silent	SNP	G	G	A			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chrX:105876451G>A	ENST00000372548.4	+	6	1381	c.1272G>A	c.(1270-1272)tcG>tcA	p.S424S	CXorf57_ENST00000372544.2_Silent_p.S424S	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	19	5	0	65	424										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTCAACATCGCAGCCAGAAA	0.318000													1	1	1	1	1	1	1.000000	21	5	0	70	1	9.945773e-01	6	0	0	70	5
TP53	7157	broad.mit.edu	37	17	7579575	7579575	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RO-01A-11D-A28R-08	TCGA-N5-A4RO-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b84520b2-e8e8-42bc-ad82-94c0f8e04473	37c9ce50-b763-446c-94de-5c8528d68602	g.chr17:7579575delG	ENST00000420246.2	-	4	244	c.112delC	c.(112-114)aafs	p.Q38fs	TP53_ENST00000455263.2_Frame_Shift_Del_p.Q38fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.Q38fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.Q38fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.Q38fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.Q38fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	200	26	0	325	38	Interaction with HRMT1L2.|Transcription activation (acidic).				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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q38*(8)|p.0?(8)|p.P36fs*4(3)|p.?(1)|p.S33fs*23(1)|p.P13fs*18(1)|p.S37fs*79(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TCCATTGCTTGGGACGGCAAG	0.592000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	0	1	1.000000	200	230	0	334	1	1	214	288	0	334	4
C1QB	713	broad.mit.edu	37	1	22986093	22986093	+	Silent	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:22986093C>T	ENST00000509305.1	+	2	484	c.138C>T	c.(136-138)ggC>ggT	p.G46G	C1QB_ENST00000314933.6_Silent_p.G48G			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	9	14	0	36	48	Collagen-like 1.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		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)	GGACACCTGGCCCCGATGGCC	0.602000													1	1	1	1	1	1	0.997267	9	14	0	37	0	1.692308e-01	0	2	0	37	5
FUCA1	2517	broad.mit.edu	37	1	24175172	24175172	+	Missense_Mutation	SNP	C	C	T	rs145603001	byFrequency	TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:24175172C>T	ENST00000374479.3	-	6	1134	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	10	20	0	70	376					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		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;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CCATTGCACCCGCCATGGTTT	0.478000													1	1	1	1	1	1	0.998161	10	28	0	77	1	9.803439e-01	10	13	0	77	5
CASQ1	844	broad.mit.edu	37	1	160168791	160168791	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:160168791C>A	ENST00000368079.3	+	9	1189	c.914C>A	c.(913-915)aCt>aAt	p.T305N	CASQ1_ENST00000467691.1_Missense_Mutation_p.T32N|CASQ1_ENST00000368078.3_Missense_Mutation_p.T311N	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	19	31	0	78	311						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGATAACACTGAAAACCCA	0.502000													1	1	1	1	1	1	0.999999	20	34	0	87	0	0	0	0	0	87	5
SLC11A1	6556	broad.mit.edu	37	2	219249939	219249939	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr2:219249939G>A	ENST00000233202.6	+	4	683	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	41	112	0	139	115					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	p.V115M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACGTCTGGGCGTGGTGACAGG	0.632000													1	1	1	1	1	1	1.000000	43	123	0	167	0	1.714733e-01	0	3	0	167	5
TTLL3	26140	broad.mit.edu	37	3	9874913	9874913	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr3:9874913G>T	ENST00000547186.1	+	11	1896	c.1680G>T	c.(1678-1680)caG>caT	p.Q560H	TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000426895.4_Missense_Mutation_p.Q703H|TTLL3_ENST00000430793.1_Missense_Mutation_p.Q348H|TTLL3_ENST00000383827.1_Intron|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000397241.1_Intron	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	11	23	0	64	560					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGCTGACCCAGCGAGGCTCTG	0.647000													1	1	1	1	1	1	0.999186	11	25	0	66	1	9.999999e-01	49	26	0	66	5
PIK3CA	5290	broad.mit.edu	37	3	178921552	178921552	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr3:178921552A>C	ENST00000263967.3	+	5	1191	c.1034A>C	c.(1033-1035)aAt>aCt	p.N345T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	19	16	0	62	345					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.N345I(4)|p.N345S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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)			ACCTACGTGAATGTAAATATT	0.303000		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	21	19	0	64	0	0	0	0	0	64	5
EPHA5	2044	broad.mit.edu	37	4	66218763	66218763	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr4:66218763C>A	ENST00000273854.3	-	13	2895	c.2295G>T	c.(2293-2295)ttG>ttT	p.L765F	EPHA5_ENST00000511294.1_Missense_Mutation_p.L766F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L743F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L602F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	9	13	0	48	765	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			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCCTACCTTCAAAAATGTAT	0.358000										TSP Lung(17;0.13)			1	1	1	1	1	1	0.998664	10	16	0	51	0	0	0	0	0	51	5
FBXW7	0	broad.mit.edu	37	4	153249384	153249384	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr4:153249384C>T	ENST00000281708.4	-	9	2623	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	39	58	0	160	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	40	63	0	173	0	1.547170e-01	1	1	0	173	5
TRAPPC11	60684	broad.mit.edu	37	4	184606530	184606530	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr4:184606530T>G	ENST00000334690.6	+	17	1938	c.1736T>G	c.(1735-1737)aTa>aGa	p.I579R	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.I579R|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.I185R	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	47	43	0	150	579																	ATTTTCACAATAGGAGTACAG	0.408000													1	1	1	1	1	1	1.000000	50	50	0	164	0	0	0	1	0	164	5
ANKRD6	22881	broad.mit.edu	37	6	90276788	90276788	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr6:90276788C>G	ENST00000369408.5	+	2	442	c.93C>G	c.(91-93)aaC>aaG	p.N31K	ANKRD6_ENST00000447838.2_Missense_Mutation_p.N31K|ANKRD6_ENST00000522441.1_Missense_Mutation_p.N31K|ANKRD6_ENST00000520793.1_Missense_Mutation_p.N31K|ANKRD6_ENST00000339746.4_Missense_Mutation_p.N31K|ANKRD6_ENST00000520886.2_Intron|ANKRD6_ENST00000485637.1_Missense_Mutation_p.N31K	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	6	9	0	18	31							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		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)		AGCTCATCAACAAGGGCGCCA	0.502000													1	1	1	1	1	1	0.994961	8	10	0	22	0	2.142857e-01	0	2	0	22	5
BCLAF1	9774	broad.mit.edu	37	6	136582609	136582609	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr6:136582609C>T	ENST00000531224.1	-	12	2803	c.2551G>A	c.(2551-2553)Gac>Aac	p.D851N	BCLAF1_ENST00000031135.9_Missense_Mutation_p.D69N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D849N|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D800N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D802N|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D800N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D678N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	6	94	0	239	851					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCATCTCTGTCGTCATGCTAC	0.378000													1	1	0	1	0	1	0.999977	17	115	0	253	1	9.505585e-01	3	34	0	253	3
THBS2	7058	broad.mit.edu	37	6	169626326	169626326	+	Silent	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr6:169626326G>A	ENST00000366787.3	-	17	2736	c.2487C>T	c.(2485-2487)gaC>gaT	p.D829D	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	46	49	0	139	829					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		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)		CCCCCACACCGTCACCATCCG	0.542000													1	1	1	1	1	1	1.000000	51	54	0	152	0	0	0	1	0	152	5
PTP4A3	11156	broad.mit.edu	37	8	142441037	142441037	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr8:142441037G>A	ENST00000520105.1	+	5	1283	c.340G>A	c.(340-342)Gga>Aga	p.G114R	PTP4A3_ENST00000524028.1_Missense_Mutation_p.G53R|PTP4A3_ENST00000349124.1_Missense_Mutation_p.G114R|PTP4A3_ENST00000521578.1_Missense_Mutation_p.G139R|PTP4A3_ENST00000329397.1_Missense_Mutation_p.G139R			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	15	17	0	76	139	Tyrosine-protein phosphatase.					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	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	0.597000													1	1	1	1	1	1	0.999978	15	18	0	77	1	1	103	138	0	77	5
TONSL	4796	broad.mit.edu	37	8	145661426	145661426	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr8:145661426C>T	ENST00000409379.3	-	17	2419	c.2390G>A	c.(2389-2391)cGg>cAg	p.R797Q	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	11	2	0	19	797					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCCCACACCCCGGATGGCTGC	0.726000													1	1	1	1	1	1	0.999968	12	3	0	20	1	9.994077e-01	7	3	0	20	5
AKR1C3	8644	broad.mit.edu	37	10	5144364	5144364	+	Silent	SNP	T	T	C			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr10:5144364T>C	ENST00000380554.3	+	6	1294	c.642T>C	c.(640-642)gtT>gtC	p.V214V	AKR1C3_ENST00000439082.2_Silent_p.V95V|AKR1C3_ENST00000605149.1_Silent_p.V191V	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	20	30	1	77	214					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TTGTTCTGGTTGCCTATAGTG	0.383000													1	0	1	1	0	1	0.999974	22	34	2	95	1	9.376944e-01	4	6	2	95	3
TAF5	6877	broad.mit.edu	37	10	105139460	105139460	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr10:105139460G>T	ENST00000369839.3	+	4	1232	c.1209G>T	c.(1207-1209)aaG>aaT	p.K403N	TAF5_ENST00000351396.4_Missense_Mutation_p.K403N	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	14	20	0	40	403	Poly-Lys.				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			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		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)		CTAAAAAGAAGAAGCCTAAAA	0.373000													1	1	1	1	1	1	0.999971	15	22	0	42	0	0	0	0	0	42	5
MUC5AC	4586	broad.mit.edu	37	11	1155683	1155683	+	Silent	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr11:1155683G>A	ENST00000356191.2	+	5	369	c.369G>A	c.(367-369)ccG>ccA	p.P123P						mucin 5AC, oligomeric mucus/gel-forming	27	2	0	44									p.R124L(1)		NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		CAGCTACGCCGCAGCCAGGAG	0.637000													1	1	1	1	1	1	1.000000	27	2	0	44	0	0	0	0	0	44	5
PHC1	1911	broad.mit.edu	37	12	9075367	9075367	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr12:9075367C>G	ENST00000433083.2	+	5	605	c.460C>G	c.(460-462)Cat>Gat	p.H154D	PHC1_ENST00000543824.1_Missense_Mutation_p.H199D|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000544916.1_Missense_Mutation_p.H199D|PHC1_ENST00000433847.2_3'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	9	9	0	33	199					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	p.H199Y(2)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						TCCTGGAGTTCATGCAGATGC	0.592000													1	1	1	1	1	1	0.998992	10	11	0	38	0	0	0	0	0	38	5
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	10	3	0	20	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			1	1	1	1	1	1	0.999723	10	3	0	23	0	0	0	1	0	23	5
NPC2	10577	broad.mit.edu	37	14	74951225	74951225	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr14:74951225G>A	ENST00000541064.1	-	3	262	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	NPC2_ENST00000555619.1_Missense_Mutation_p.P86S|NPC2_ENST00000434013.2_Missense_Mutation_p.P86S|NPC2_ENST00000238633.2_Missense_Mutation_p.P86S|NPC2_ENST00000557510.1_Missense_Mutation_p.P86S			P61916	NPC2_HUMAN	Niemann-Pick disease, type C2	37	52	0	148	86			P -> L (in dbSNP:rs4688).		cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		TCAGGAATGGGAAAGGGAACT	0.433000													1	1	1	1	1	1	1.000000	40	54	0	154	1	1	330	373	0	154	5
BMF	90427	broad.mit.edu	37	15	40398008	40398008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr15:40398008G>A	ENST00000354670.4	-	3	514	c.280C>T	c.(280-282)Cga>Tga	p.R94*	BMF_ENST00000558774.1_Nonsense_Mutation_p.R94*|BMF_ENST00000431415.3_Nonsense_Mutation_p.R94*|BMF_ENST00000561360.1_Nonsense_Mutation_p.R94*|BMF_ENST00000397573.1_Nonsense_Mutation_p.R94*|BMF_ENST00000561282.1_Nonsense_Mutation_p.R94*|BMF_ENST00000559701.1_Nonsense_Mutation_p.R94*|BMF_ENST00000220446.4_Nonsense_Mutation_p.R94*	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor	50	71	0	182	94					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			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		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)		TAAAAGAGTCGCTGGGGTTCC	0.577000													1	0	1	1	1	1	1.000000	53	80	0	212	1	8.867668e-01	2	6	0	212	4
HCN4	10021	broad.mit.edu	37	15	73616239	73616239	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr15:73616239C>T	ENST00000261917.3	-	8	3188	c.2195G>A	c.(2194-2196)gGc>gAc	p.G732D		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	22	30	0	96	732					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTTGAAGACGCCGGAGTTGAG	0.597000													1	1	1	1	1	1	1.000000	25	31	0	107	0	0	0	0	0	107	5
MRPS11	64963	broad.mit.edu	37	15	89021195	89021195	+	Silent	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr15:89021195G>A	ENST00000325844.4	+	6	835	c.570G>A	c.(568-570)aaG>aaA	p.K190K	MRPS11_ENST00000353598.6_Silent_p.K157K	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	38	31	0	88	190					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GCCCCAGGAAGGCTCGGAAGC	0.587000													1	1	1	1	1	1	1.000000	41	34	0	103	1	1	61	72	0	103	5
TP53	7157	broad.mit.edu	37	17	7578556	7578556	+	Splice_Site	SNP	T	T	G			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr17:7578556T>G	ENST00000420246.2	-	5	508		c.e5-2		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	23	3	0	44						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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		AGGGGAGTACTGTAGGAAGAG	0.552000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	24	3	0	44	0	0	1	0	0	44	5
SERPINB2	5055	broad.mit.edu	37	18	61570285	61570285	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr18:61570285G>A	ENST00000457692.1	+	9	1327	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	SERPINB2_ENST00000299502.4_Missense_Mutation_p.A332T	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	22	33	0	97	332					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CATGGAGGACGCCTTCAACAA	0.463000													1	1	1	1	1	1	1.000000	25	36	0	105	0	1.741071e-01	1	1	0	105	5
DLGAP4	22839	broad.mit.edu	37	20	35061024	35061024	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr20:35061024G>A	ENST00000373913.3	+	3	1384	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	DLGAP4_ENST00000373907.2_Missense_Mutation_p.A302T|DLGAP4_ENST00000339266.5_Missense_Mutation_p.A302T|DLGAP4_ENST00000401952.2_Missense_Mutation_p.A302T			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	4	17	0	20	302					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCTCAGCCACGCCCACGAGGT	0.637000													1	0	1	1	1	1	0.944310	5	21	0	22	0	0	0	0	0	22	4
POTED	317754	broad.mit.edu	37	21	14982927	14982927	+	Silent	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr21:14982927C>T	ENST00000299443.5	+	1	430	c.378C>T	c.(376-378)agC>agT	p.S126S		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	50	89	0	221	126						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ACGACCACAGCGCCTTCATGG	0.597000													1	0	1	1	0	1	1.000000	54	93	0	234	0	0	0	0	0	234	3
AMOT	154796	broad.mit.edu	37	X	112022454	112022454	+	Silent	SNP	C	C	T			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chrX:112022454C>T	ENST00000371959.3	-	10	2927	c.2928G>A	c.(2926-2928)ccG>ccA	p.P976P	AMOT_ENST00000371962.1_Silent_p.P744P|AMOT_ENST00000524145.1_Silent_p.P976P|AMOT_ENST00000304758.1_Silent_p.P567P	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	9	8	0	37	976					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	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GAACTGGAGCCGGAGCAGCTG	0.627000													1	1	1	1	1	1	0.999238	10	8	0	38	0	0	0	0	0	38	5
L1CAM	3897	broad.mit.edu	37	X	153131272	153131272	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chrX:153131272G>A	ENST00000370060.1	-	20	2623	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S	L1CAM_ENST00000361699.4_Missense_Mutation_p.P812S|L1CAM_ENST00000543994.1_Missense_Mutation_p.P814S|L1CAM_ENST00000538883.1_Missense_Mutation_p.P814S|L1CAM_ENST00000370055.1_Missense_Mutation_p.P807S|L1CAM_ENST00000370057.3_Missense_Mutation_p.P812S|L1CAM_ENST00000361981.3_Missense_Mutation_p.P807S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	50	55	0	129	812	Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	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)					ATTGCCTGGGGGTCTGGAAAC	0.592000													1	1	1	1	1	1	1.000000	51	58	0	136	1	9.969477e-01	6	8	0	136	5
SETDB1	9869	broad.mit.edu	37	1	150933180	150933181	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:150933180_150933181delGT	ENST00000271640.5	+	16	2832_2833	c.2642_2643delGT	c.(2641-2643)afs	p.S881fs	SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Frame_Shift_Del_p.S881fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	27	45	0	142	881	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			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	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)			TCTGACAGCAGTGGTGTAGACT	0.475000													1	1	1	1	0	1	1.000000	27	72	0	145	0	8.983515e-01	1	12	0	145	4
SPRTN	83932	broad.mit.edu	37	1	231487057	231487057	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr1:231487057delA	ENST00000391858.4	+	4	1738	c.458delA	c.(457-459)ctfs	p.H153fs	SPRTN_ENST00000295050.7_Frame_Shift_Del_p.H153fs|SPRTN_ENST00000008440.9_Frame_Shift_Del_p.H110fs|SPRTN_ENST00000469904.1_3'UTR					SprT-like N-terminal domain	18	60	0	87																		CAGGTATACCATACTTTTCAC	0.413000													1	1	1	1	0	1	0.999991	18	78	0	88							4
PIK3R1	5295	broad.mit.edu	37	5	67576381	67576382	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr5:67576381_67576382insC	ENST00000521381.1	+	6	1276_1277	c.660_661insC	c.(658-663)atagctfs	p.A221fs	PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.A221fs|PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.A221fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.A221fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	91	94	0	196	221	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.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		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)	AAGAATATATTCAGCTATTGAA	0.351000			Mis, F, O		gliobastoma, ovarian, colorectal					TCGA GBM(4;<1E-08)			1	1	1	1	0	1	1.000000	91	187	0	196	0	2.537367e-01	1	2	0	196	4
TTF1	7270	broad.mit.edu	37	9	135251330	135251330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr9:135251330delA	ENST00000334270.2	-	11	2729	c.2690delT	c.(2689-2691)tgfs	p.L897fs	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	4	9	0	24	897					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ttggcctcccaaagtactgga	0.483000													0	0	1	1	0	1	0.898827	4	13	0	24	1	9.990848e-01	21	53	0	24	2
ZNF830	91603	broad.mit.edu	37	17	33289163	33289164	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr17:33289163_33289164delCA	ENST00000361952.3	+	1	615_616	c.578_579delCA	c.(577-579)tfs	p.S193fs		NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	19	25	0	61	193					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				AAGGAGCACTCAGTTTCCTCTT	0.525000													1	1	1	1	0	1	0.999997	19	44	0	61	1	9.422613e-01	6	8	0	61	4
JAG1	182	broad.mit.edu	37	20	10653632	10653635	+	Frame_Shift_Del	DEL	AACT	AACT	-			TCGA-N5-A4RS-01A-11D-A28R-08	TCGA-N5-A4RS-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af5265b-b489-4307-b4b7-9ea5d8f1b461	a5091274-8175-4e71-831a-a07f6aef2908	g.chr20:10653632_10653635delAACT	ENST00000254958.5	-	2	616_619	c.101_104delAGTT	c.(100-105)ccfs	p.QF34fs	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	18	63	0	83	34					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			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CTCCAACTCGAACTGACCCGAGGC	0.642000									Alagille Syndrome				1	1	1	1	0	1	0.999998	20	84	0	85							4
ZNF683	257101	broad.mit.edu	37	1	26691433	26691433	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:26691433G>T	ENST00000436292.1	-	4	724	c.604C>A	c.(604-606)Cca>Aca	p.P202T	ZNF683_ENST00000349618.3_Missense_Mutation_p.P202T|ZNF683_ENST00000374204.1_Missense_Mutation_p.P202T|ZNF683_ENST00000403843.1_Missense_Mutation_p.P202T			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	14	37	0	31	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		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)		AGGTGGGGTGGAGGCAGGAGA	0.602000													1	1	1	1	1	1	0.999946	15	42	0	31	0	0	0	0	0	31	5
SFPQ	6421	broad.mit.edu	37	1	35652661	35652661	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:35652661C>T	ENST00000357214.5	-	9	2025	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	17	86	0	44	643					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|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGATTAGCTTCATAACCTATG	0.463000			T	TFE3	papillary renal cell								1	1	1	1	1	1	0.999980	17	88	0	49	1	1	313	834	0	49	5
SMCP	4184	broad.mit.edu	37	1	152857173	152857173	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:152857173C>G	ENST00000368765.3	+	2	425	c.275C>G	c.(274-276)cCg>cGg	p.P92R		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	7	195	0	118	92					penetration of zona pellucida|sperm motility	mitochondrial membrane		p.P92L(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	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)			CCCAACTCACCGCAAACTCAG	0.532000													1	0	1	0	0	1	0.989747	8	216	0	131	0	0	0	1	0	131	2
PGLYRP4	57115	broad.mit.edu	37	1	153312868	153312868	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:153312868G>T	ENST00000368739.3	-	7	1159	c.801C>A	c.(799-801)gaC>gaA	p.D267E	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.D271E			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	36	63	0	67	271					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			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	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)			TATAACCAATGTCGCATGACT	0.502000													1	1	1	1	1	1	1.000000	38	70	0	79	0	0	0	0	0	79	5
ZBTB7B	51043	broad.mit.edu	37	1	154988736	154988736	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:154988736G>C	ENST00000368426.3	+	4	1332	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E399Q|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E399Q|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E433Q	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	49	76	0	70	399					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	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)			GCACACGGGAGAGCGCCCCTA	0.632000													1	1	1	1	1	1	1.000000	53	79	0	78	1	1	27	29	0	78	5
DHX9	1660	broad.mit.edu	37	1	182850453	182850453	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:182850453C>T	ENST00000367549.3	+	23	2789	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	54	47	0	74	893					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			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CAGAGCCTTTCATCAATGAAG	0.438000													1	1	1	1	1	1	1.000000	56	49	0	79	1	1	242	288	0	79	5
TMEM81	388730	broad.mit.edu	37	1	205053392	205053392	+	Silent	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:205053392C>G	ENST00000367167.3	-	1	253	c.57G>C	c.(55-57)ctG>ctC	p.L19L		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	36	41	0	63	19						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCACCAAAGGCAGGTAGAAGG	0.522000													1	1	1	1	1	1	1.000000	39	45	0	68	1	9.616699e-01	4	5	0	68	5
OR2W3	343171	broad.mit.edu	37	1	248059114	248059114	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:248059114A>G	ENST00000537741.1	+	3	483	c.226A>G	c.(226-228)Agc>Ggc	p.S76G	OR2W3_ENST00000360358.3_Missense_Mutation_p.S76G			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	9	213	0	125	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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)			TTTCACCACCAGCTCCATCCC	0.582000													1	0	1	1	0	1	0.994486	9	222	0	133	0	1.129805e-02	0	4	0	133	3
SRBD1	55133	broad.mit.edu	37	2	45812822	45812822	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:45812822C>G	ENST00000263736.4	-	5	802	c.740G>C	c.(739-741)cGt>cCt	p.R247P		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	6	34	0	32	247					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTTCTATAACGTATAATGAA	0.353000													1	1	1	1	1	1	0.968965	6	35	0	35	1	7.858556e-01	4	15	0	35	5
EPAS1	2034	broad.mit.edu	37	2	46602865	46602865	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:46602865G>A	ENST00000263734.3	+	8	1433	c.923G>A	c.(922-924)cGg>cAg	p.R308Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	18	39	0	44	308	PAC.				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			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGCCAGTACCGGATGCTCGCA	0.602000													1	1	1	1	1	1	0.999995	18	39	0	45	1	9.776491e-01	2	15	0	45	5
AFTPH	54812	broad.mit.edu	37	2	64780209	64780209	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:64780209G>T	ENST00000422803.1	+	2	1915	c.1601G>T	c.(1600-1602)gGt>gTt	p.G534V	AFTPH_ENST00000409183.1_Missense_Mutation_p.G165V|AFTPH_ENST00000238855.7_Missense_Mutation_p.G534V|AFTPH_ENST00000487769.1_3'UTR|AFTPH_ENST00000238856.4_Missense_Mutation_p.G534V|AFTPH_ENST00000409933.1_Missense_Mutation_p.G534V			Q6ULP2	AFTIN_HUMAN	aftiphilin	13	45	0	45	534					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GGGCAAGAAGGTGAGATTGGA	0.388000													1	1	1	1	1	1	0.999731	13	49	0	48	1	9.984016e-01	15	31	0	48	5
GMCL1	64395	broad.mit.edu	37	2	70096956	70096956	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:70096956G>A	ENST00000282570.3	+	12	1575	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	13	35	0	38	442					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GCCATGTAGCGGATCTGTCAG	0.433000													1	1	1	1	1	1	0.999889	14	39	0	39	1	9.984504e-01	15	21	0	39	5
SLC4A5	57835	broad.mit.edu	37	2	74491273	74491273	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:74491273C>T	ENST00000394019.2	-	10	1113		c.e10+1		SLC4A5_ENST00000377632.1_Splice_Site|SLC4A5_ENST00000377634.4_Splice_Site|SLC4A5_ENST00000359484.4_Splice_Site|SLC4A5_ENST00000358683.4_Splice_Site|SLC4A5_ENST00000483195.1_Splice_Site|RP11-287D1.3_ENST00000451608.2_Splice_Site|SLC4A5_ENST00000357822.5_Splice_Site|SLC4A5_ENST00000423644.1_Splice_Site|SLC4A5_ENST00000346834.4_Splice_Site	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	17	48	0	49							apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCCTGACTCACTTGTGGTGGA	0.592000													1	1	1	1	0	1	0.999993	18	54	0	57	1	6.846847e-02	2	0	0	57	4
RETSAT	54884	broad.mit.edu	37	2	85577956	85577956	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:85577956C>A	ENST00000295802.4	-	3	656	c.544G>T	c.(544-546)Gag>Tag	p.E182*	RETSAT_ENST00000457495.2_Nonsense_Mutation_p.E121*|RETSAT_ENST00000263854.6_Nonsense_Mutation_p.E182*	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	10	108	0	94	182					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GGAAACTTCTCCTTGAGGCCC	0.483000													1	1	1	1	0	1	0.997245	10	121	0	98	0	8.431287e-01	0	43	0	98	4
MAT2A	4144	broad.mit.edu	37	2	85768241	85768241	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:85768241G>C	ENST00000306434.3	+	2	250	c.127G>C	c.(127-129)Gat>Cat	p.D43H	MAT2A_ENST00000409017.1_5'UTR	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	18	77	0	59	43					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGCTGTCCTTGATGCCCACCT	0.368000													1	1	1	1	1	1	1.000000	22	91	0	68	1	1	38	119	0	68	5
POLR1A	25885	broad.mit.edu	37	2	86274381	86274381	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:86274381G>T	ENST00000263857.6	-	19	3018	c.2640C>A	c.(2638-2640)tgC>tgA	p.C880*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.C880*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	6	37	0	30	880					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			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAAAAGGCATGCATGCCTGCA	0.478000													1	1	1	1	1	1	0.968768	6	37	0	30	0	5.515086e-01	0	12	0	30	5
KANSL3	55683	broad.mit.edu	37	2	97274353	97274353	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:97274353C>T	ENST00000599854.1	-	14	1839	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	KANSL3_ENST00000440133.1_Missense_Mutation_p.V339M|KANSL3_ENST00000441706.2_Missense_Mutation_p.V458M|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000431828.1_Missense_Mutation_p.V545M	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	14	61	0	47	545																	ACTGTGGTCACTTTGGTCTTG	0.522000													1	1	1	1	1	1	0.999928	15	63	0	50	1	9.999020e-01	17	58	0	50	5
IL1B	3553	broad.mit.edu	37	2	113588102	113588102	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:113588102C>A	ENST00000263341.2	-	7	856	c.646G>T	c.(646-648)Gtc>Ttc	p.V216F	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	5	88	0	83	216					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			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TTGTTGAAGACAAATCGCTTT	0.423000													1	0	1	1	0	1	0.966522	6	93	0	90	0	0	0	0	0	90	3
TTN	7273	broad.mit.edu	37	2	179639016	179639016	+	Silent	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:179639016G>C	ENST00000589042.1	-	30	7199	c.6975C>G	c.(6973-6975)gtC>gtG	p.V2325V	TTN_ENST00000342992.6_Silent_p.V2325V|TTN_ENST00000342175.6_Silent_p.V2279V|TTN_ENST00000460472.2_Silent_p.V2279V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.V2325V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V2325V|TTN_ENST00000359218.5_Silent_p.V2279V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20	52	0	54	2042	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACATCCTTGACCGTGAGGT	0.408000													1	1	1	1	1	1	0.999998	20	59	0	61	0	0	0	0	0	61	5
SF3B1	23451	broad.mit.edu	37	2	198285262	198285262	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:198285262T>G	ENST00000335508.5	-	4	396	c.305A>C	c.(304-306)gAt>gCt	p.D102A	SF3B1_ENST00000487698.1_Missense_Mutation_p.D102A|SF3B1_ENST00000414963.2_Missense_Mutation_p.D102A|SF3B1_ENST00000409915.4_Missense_Mutation_p.D102A	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	38	17	0	50	102					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGCAAATGGATCATACTGAAA	0.368000			Mis		myelodysplastic syndrome								1	1	1	1	1	1	1.000000	39	18	0	51	1	1	83	33	0	51	5
NYAP2	57624	broad.mit.edu	37	2	226378110	226378110	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr2:226378110G>T	ENST00000272907.6	+	3	658	c.245G>T	c.(244-246)gGc>gTc	p.G82V	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	17	37	0	47	82																	GTAGGGCGAGGCCACGAAGGA	0.463000													1	1	1	1	1	1	0.999999	20	39	0	52	0	0	0	0	0	52	5
NXPE3	91775	broad.mit.edu	37	3	101535731	101535731	+	Missense_Mutation	SNP	C	C	T	rs147008534		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:101535731C>T	ENST00000422132.1	+	4	1212	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C	NXPE3_ENST00000477909.1_Missense_Mutation_p.R339C|NXPE3_ENST00000491511.1_Missense_Mutation_p.R339C|NXPE3_ENST00000273347.5_Missense_Mutation_p.R339C					neurexophilin and PC-esterase domain family, member 3	38	36	0	87																		GTTTAAGATGCGTCAGTTTAA	0.393000													1	1	1	1	1	1	1.000000	38	40	0	89	1	9.999989e-01	15	16	0	89	5
CPNE4	131034	broad.mit.edu	37	3	131404727	131404727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:131404727G>A	ENST00000512055.1	-	10	2709	c.583C>T	c.(583-585)Cga>Tga	p.R195*	CPNE4_ENST00000429747.1_Nonsense_Mutation_p.R195*|CPNE4_ENST00000511604.1_Nonsense_Mutation_p.R195*|CPNE4_ENST00000502818.1_Nonsense_Mutation_p.R213*|CPNE4_ENST00000512332.1_Nonsense_Mutation_p.R213*			Q96A23	CPNE4_HUMAN	copine IV	17	27	0	17	195	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						ACCTCAGTTCGGTGCACCAGC	0.378000													1	1	1	1	1	1	1.000000	21	30	0	18	0	5.469302e-01	0	4	0	18	5
ZBTB38	253461	broad.mit.edu	37	3	141163673	141163673	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:141163673A>G	ENST00000514251.1	+	4	2722	c.2443A>G	c.(2443-2445)Att>Gtt	p.I815V	ZBTB38_ENST00000321464.5_Missense_Mutation_p.I816V|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I815V			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	6	75	0	41	815					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AACCAGCAAAATTGAAACCTA	0.433000													1	1	1	1	0	1	0.966826	6	78	0	43	1	5.813563e-01	2	23	0	43	4
BCHE	590	broad.mit.edu	37	3	165547849	165547849	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:165547849C>A	ENST00000264381.3	-	2	1139	c.973G>T	c.(973-975)Gat>Tat	p.D325Y	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	60	2	0	30	325					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			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					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)	GTGAGAAAATCACCATCCACG	0.383000													1	1	1	1	1	1	1.000000	61	2	0	34	1	1	44	6	0	34	5
PIK3CA	5290	broad.mit.edu	37	3	178921552	178921552	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr3:178921552A>T	ENST00000263967.3	+	5	1191	c.1034A>T	c.(1033-1035)aAt>aTt	p.N345I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	70	2	0	44	345					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.N345I(4)|p.N345S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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)			ACCTACGTGAATGTAAATATT	0.303000		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	71	2	0	49	1	1	47	1	0	49	5
SLC26A1	10861	broad.mit.edu	37	4	982659	982659	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:982659G>A	ENST00000361661.2	-	4	2445	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	IDUA_ENST00000247933.4_Intron|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.R690C|IDUA_ENST00000509744.1_Intron|SLC26A1_ENST00000398520.2_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	3	23	0	16	690						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCCTGTGGCGGGCTCGTGCT	0.677000													0	0	1	0	1	1	0.893960	4	34	0	19	0	9.731862e-01	1	64	0	19	2
TACC3	10460	broad.mit.edu	37	4	1729792	1729792	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:1729792G>C	ENST00000313288.4	+	4	769	c.663G>C	c.(661-663)gaG>gaC	p.E221D		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	16	123	0	38	221						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACGGAGCCGAGGAAGAATGCA	0.617000													1	1	1	1	1	1	0.999950	16	132	0	41	1	1	79	634	0	41	5
ZNF518B	85460	broad.mit.edu	37	4	10445496	10445496	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:10445496C>T	ENST00000326756.3	-	3	2895	c.2457G>A	c.(2455-2457)gcG>gcA	p.A819A		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	18	73	0	85	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AGTCTGAGTCCGCCTGTCTCA	0.468000													1	1	1	1	1	1	0.999999	21	80	0	93	1	9.998466e-01	18	42	0	93	5
PPARGC1A	10891	broad.mit.edu	37	4	23886369	23886369	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:23886369C>G	ENST00000507380.1	-	2	317	c.240G>C	c.(238-240)agG>agC	p.R80S	PPARGC1A_ENST00000264867.2_Intron			Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	19	39	0	41	0					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			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CAAAGGATGTCCTTACCTCAA	0.388000													1	0	1	1	1	1	0.999999	20	43	0	44	0	1.076923e-01	0	2	0	44	4
PRDM5	11107	broad.mit.edu	37	4	121739545	121739545	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:121739545C>A	ENST00000264808.3	-	5	853	c.613G>T	c.(613-615)Ggg>Tgg	p.G205W	PRDM5_ENST00000428209.2_Missense_Mutation_p.G205W|PRDM5_ENST00000515109.1_Missense_Mutation_p.G205W	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	9	17	0	40	205					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)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AATTTCTTCCCACAGTTCTTG	0.373000													1	1	1	1	1	1	0.998461	10	20	0	45	1	7.289627e-01	2	5	0	45	5
NDNF	79625	broad.mit.edu	37	4	121958225	121958225	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:121958225C>T	ENST00000379692.4	-	4	1427	c.901G>A	c.(901-903)Gtc>Atc	p.V301I		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	18	18	0	43	301	Fibronectin type-III 1.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGATCAGAGACGGTGAAGATG	0.463000													1	1	1	1	0	1	0.999998	18	20	0	48	1	9.965687e-01	9	6	0	48	4
TBC1D9	23158	broad.mit.edu	37	4	141578966	141578966	+	Splice_Site	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:141578966C>T	ENST00000442267.2	-	12	1996	c.1921_splice	c.e12-1	p.G641_splice		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	41	78	0	162	641	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CACCAGTGCACCTGTGGCAGC	0.502000													1	1	1	1	1	1	1.000000	48	82	0	169	1	9.635232e-01	4	8	0	169	5
FBXW7	0	broad.mit.edu	37	4	153250906	153250906	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr4:153250906G>A	ENST00000281708.4	-	8	2383	c.1154C>T	c.(1153-1155)aCa>aTa	p.T385I	FBXW7_ENST00000603548.1_Missense_Mutation_p.T385I|FBXW7_ENST00000393956.3_Missense_Mutation_p.T209I|FBXW7_ENST00000296555.5_Missense_Mutation_p.T267I|FBXW7_ENST00000603841.1_Missense_Mutation_p.T385I|FBXW7_ENST00000263981.5_Missense_Mutation_p.T305I	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	24	17	0	57	385					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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTGTAAGCATGTGATCACATG	0.343000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	26	18	0	63	1	9.835938e-01	4	4	0	63	5
CLPTM1L	81037	broad.mit.edu	37	5	1318557	1318557	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:1318557A>C	ENST00000320895.5	-	17	1801	c.1544T>G	c.(1543-1545)gTg>gGg	p.V515G	CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000507807.1_Missense_Mutation_p.V346G|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.V479G	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	7	63	0	48	515					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	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)		GCGTTTATCCACAGGATAAAG	0.562000													1	1	1	1	0	1	0.982303	7	70	0	52	1	1	160	975	0	52	4
PRDM9	56979	broad.mit.edu	37	5	23526781	23526781	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:23526781G>A	ENST00000296682.3	+	11	1766	c.1584G>A	c.(1582-1584)gaG>gaA	p.E528E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	49	55	0	70	528					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTATGGAGAGTGTGGACAAG	0.458000										HNSCC(3;0.000094)			1	1	1	1	1	1	1.000000	51	60	0	71	0	8.420789e-01	1	5	0	71	5
CDH9	1007	broad.mit.edu	37	5	26881282	26881282	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:26881282G>A	ENST00000231021.4	-	12	2505	c.2333C>T	c.(2332-2334)gCc>gTc	p.A778V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	129	67	0	83	778					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATACATATCGGCAAGTTTTTT	0.413000													1	1	1	1	1	1	1.000000	140	77	0	90	0	0	0	0	0	90	5
HCN1	348980	broad.mit.edu	37	5	45396744	45396744	+	Silent	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr5:45396744C>A	ENST00000303230.4	-	4	1137	c.1080G>T	c.(1078-1080)ggG>ggT	p.G360G		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	29	95	0	60	360						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGCTCCATACCCAATGCACA	0.478000													1	1	1	1	1	1	1.000000	29	103	0	70	0	0	0	0	0	70	5
HCRTR2	3062	broad.mit.edu	37	6	55142223	55142223	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:55142223C>A	ENST00000370862.3	+	5	1144	c.808C>A	c.(808-810)Cag>Aag	p.Q270K		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	14	47	0	35	270					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAAGCCCCTGCAGCCTGTTTC	0.507000													1	1	1	1	1	1	0.999863	14	54	0	41	0	4.828974e-02	0	2	0	41	5
REV3L	5980	broad.mit.edu	37	6	111650901	111650901	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:111650901T>G	ENST00000435970.1	-	27	8657	c.7841A>C	c.(7840-7842)gAa>gCa	p.E2614A	REV3L_ENST00000358835.3_Missense_Mutation_p.E2692A|REV3L_ENST00000368805.1_Missense_Mutation_p.E2692A|REV3L_ENST00000368802.3_Missense_Mutation_p.E2692A			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	27	27	0	33	2692					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		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)		CTTCAAAATTTCTTCAAGCAT	0.363000								DNA polymerases (catalytic subunits)					1	1	1	1	1	1	1.000000	28	28	0	34	1	9.999997e-01	26	10	0	34	5
MAD1L1	8379	broad.mit.edu	37	7	1997278	1997278	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:1997278G>C	ENST00000406869.1	-	16	2139	c.1582C>G	c.(1582-1584)Cgg>Ggg	p.R528G	MAD1L1_ENST00000399654.2_Missense_Mutation_p.R528G|MAD1L1_ENST00000402746.1_Missense_Mutation_p.R436G|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R528G			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	10	83	0	97	528	Necessary for interaction with NEK2.				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			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		AGAGCTCGCCGCTCCAGCTGT	0.637000													1	1	1	1	1	1	0.999304	12	94	0	108	1	9.992164e-01	30	74	0	108	5
HOXA4	3201	broad.mit.edu	37	7	27169062	27169062	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:27169062C>T	ENST00000360046.5	-	2	810	c.745G>A	c.(745-747)Gcc>Acc	p.A249T	HOXA-AS2_ENST00000521159.1_RNA|HOXA3_ENST00000467897.2_5'UTR|HOXA4_ENST00000428284.2_Missense_Mutation_p.A249T	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	56	60	0	100	249						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AGCGTGTGGGCGATCTCGATG	0.572000													1	1	1	1	1	1	1.000000	62	63	0	106	1	9.999999e-01	21	13	0	106	5
NPC1L1	29881	broad.mit.edu	37	7	44574199	44574199	+	Silent	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:44574199G>T	ENST00000289547.4	-	6	2068	c.2013C>A	c.(2011-2013)ggC>ggA	p.G671G	NPC1L1_ENST00000546276.1_Silent_p.G671G|NPC1L1_ENST00000381160.3_Silent_p.G671G|NPC1L1_ENST00000423141.1_Silent_p.G671G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	17	60	0	53	671	SSD.				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CGGCCACCCCGCCGAGGCCCA	0.622000											OREG0018038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999996	19	73	0	58	0	0	0	0	0	58	5
ZNF736	728927	broad.mit.edu	37	7	63796701	63796701	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:63796701C>T	ENST00000355095.4	+	3	390	c.68C>T	c.(67-69)tCt>tTt	p.S23F	ZNF736_ENST00000423484.1_Missense_Mutation_p.S23F	NM_001170905.1	NP_001164376.1	B4DX44	ZN736_HUMAN	zinc finger protein 736	25	14	0	25	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						TGCCTGGACTCTGCTCAGCAG	0.423000													0	0	1	1	1	1	1.000000	25	15	0	24	0	0	0	1	0	24	3
MUC17	140453	broad.mit.edu	37	7	100677014	100677014	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:100677014G>A	ENST00000306151.4	+	3	2381	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	112	272	1	306	773	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.D773N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTCTTGACACAAGCAC	0.478000													1	0	1	1	1	1	1.000000	115	282	1	321	0	0	0	0	1	321	4
TRIM56	81844	broad.mit.edu	37	7	100730756	100730756	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr7:100730756C>T	ENST00000306085.6	+	3	460	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	27	72	0	87	55					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CGGCCGCGTCCGCTGCCCCGA	0.647000													1	1	1	1	1	1	1.000000	29	79	0	89	1	7.400288e-01	4	5	0	89	5
ASH2L	9070	broad.mit.edu	37	8	37985968	37985968	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:37985968A>T	ENST00000343823.6	+	11	1634	c.1325A>T	c.(1324-1326)cAg>cTg	p.Q442L	ASH2L_ENST00000428278.2_Missense_Mutation_p.Q348L|ASH2L_ENST00000545394.1_Missense_Mutation_p.Q303L|ASH2L_ENST00000521652.1_Missense_Mutation_p.Q348L|ASH2L_ENST00000250635.7_Missense_Mutation_p.Q348L	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	36	25	0	47	442	B30.2/SPRY.				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			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GGTTGGTCCCAGCCCCTAGGT	0.527000													1	1	1	1	1	1	1.000000	43	30	0	51	1	1	92	43	0	51	5
LETM2	137994	broad.mit.edu	37	8	38260158	38260158	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:38260158C>A	ENST00000379957.4	+	7	1227	c.1100C>A	c.(1099-1101)aCg>aAg	p.T367K	LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000523983.2_Missense_Mutation_p.T320K|LETM2_ENST00000297720.5_Missense_Mutation_p.T272K|LETM2_ENST00000527710.1_Missense_Mutation_p.T153K|LETM2_ENST00000524874.1_Missense_Mutation_p.T319K	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	22	51	0	44	367	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CAACAGCTCACGGAGGCAAGT	0.542000													1	1	1	1	1	1	1.000000	27	53	0	51	1	8.917316e-01	3	7	0	51	5
RP1	6101	broad.mit.edu	37	8	55533846	55533846	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:55533846C>A	ENST00000220676.1	+	2	468	c.320C>A	c.(319-321)tCc>tAc	p.S107Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	9	98	0	97	107	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			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		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)			TACCTATGTTCCCACGGCAGG	0.677000													1	1	1	1	0	1	0.997297	10	106	0	105	0	0	0	0	0	105	4
CSMD3	114788	broad.mit.edu	37	8	113318340	113318340	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:113318340T>C	ENST00000297405.5	-	51	8211	c.7967A>G	c.(7966-7968)tAt>tGt	p.Y2656C	CSMD3_ENST00000343508.3_Missense_Mutation_p.Y2616C|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y2586C|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y2552C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	19	35	0	60	2656	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTACAAAAATAGGTAACTCG	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			1	1	1	1	1	1	0.999998	19	37	0	61	0	2.781999e-01	1	2	0	61	5
ENPP2	0	broad.mit.edu	37	8	120599309	120599309	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr8:120599309G>C	ENST00000427067.2	-	14	1382	c.1202C>G	c.(1201-1203)cCc>cGc	p.P401R	ENPP2_ENST00000259486.6_Missense_Mutation_p.P457R|ENPP2_ENST00000522167.1_Missense_Mutation_p.P44R|ENPP2_ENST00000075322.6_Missense_Mutation_p.P405R|ENPP2_ENST00000522826.1_Missense_Mutation_p.P405R			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	5	13	0	17	405					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			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATGGCTTTGGGGTCATCTGT	0.478000													1	0	1	1	1	1	0.946554	5	15	0	19	1	9.999649e-01	29	91	0	19	4
OR2S2	56656	broad.mit.edu	37	9	35957351	35957351	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:35957351C>G	ENST00000341959.2	-	1	800	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	61	47	0	59	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			AAGACGATCACCACGGTGAGG	0.507000													1	1	1	1	1	1	1.000000	62	51	0	61	0	0	0	0	0	61	5
COL15A1	1306	broad.mit.edu	37	9	101832029	101832029	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:101832029G>T	ENST00000375001.3	+	42	4451	c.4028G>T	c.(4027-4029)cGa>cTa	p.R1343L		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	13	102	0	128	1343	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAAGCATGGCGAACCGCGGAC	0.527000													1	1	1	1	1	1	0.999629	13	113	0	139	1	9.920122e-01	2	72	0	139	5
LPPR1	0	broad.mit.edu	37	9	104086318	104086318	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:104086318G>A	ENST00000374874.3	+	8	1396	c.957G>A	c.(955-957)gcG>gcA	p.A319A	LPPR1_ENST00000395056.2_Silent_p.A319A	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		6	12	0	28	319						integral to membrane	catalytic activity										ATCACTCTGCGTCCATGACCG	0.413000													1	1	1	1	0	1	0.987210	7	14	0	35	1	8.682610e-01	4	6	0	35	4
POMT1	10585	broad.mit.edu	37	9	134379641	134379641	+	Silent	SNP	G	G	C	rs138334962	by1000genomes	TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:134379641G>C	ENST00000423007.1	+	2	478	c.36G>C	c.(34-36)acG>acC	p.T12T	POMT1_ENST00000341012.7_Intron|POMT1_ENST00000372228.3_Silent_p.T12T|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000402686.3_Silent_p.T12T|POMT1_ENST00000404875.2_Intron|POMT1_ENST00000354713.4_Silent_p.T12T|POMT1_ENST00000419118.2_Intron	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	44	5	0	81	12					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TAGTGGTGACGGCTGACATCA	0.577000											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	47	5	0	87	1	1	8	2	0	87	5
CACNA1B	774	broad.mit.edu	37	9	140772533	140772533	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr9:140772533G>A	ENST00000371372.1	+	1	293	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	CACNA1B_ENST00000277551.2_Missense_Mutation_p.A50T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A50T|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A50T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A50T|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	6	10	0	13	50					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCAATCGATCGCGCAGCGCGC	0.731000													0	0	1	1	0	1	0.987544	7	13	0	13	0	0	0	0	0	13	2
CUBN	8029	broad.mit.edu	37	10	16882348	16882348	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr10:16882348T>G	ENST00000377833.4	-	62	10078	c.10013A>C	c.(10012-10014)cAg>cCg	p.Q3338P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	21	38	0	44	3338	CUB 25.				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			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCCTGAAGCTGTAAGTAATT	0.448000													1	1	1	1	1	1	1.000000	23	43	0	53	1	6.764438e-01	4	2	0	53	5
NAMPTL	0	broad.mit.edu	37	10	36811877	36811877	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr10:36811877C>A	ENST00000543053.1	-	1	446	c.230G>T	c.(229-231)gGa>gTa	p.G77V							13	65	0	52											biliary_tract(1)|breast(3)|lung(9)|stomach(1)	14						CTCAAGGTCTCCTTTTCCTTC	0.418000													1	0	0	1	0	1	0.999684	13	69	0	56	0	0	0	0	0	56	2
MGEA5	10724	broad.mit.edu	37	10	103547200	103547200	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr10:103547200C>G	ENST00000361464.3	-	15	2930	c.2535G>C	c.(2533-2535)atG>atC	p.M845I	MGEA5_ENST00000439817.1_Missense_Mutation_p.M792I|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.M778I	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	45	4	0	48	845	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TGTGAATGTCCATCTTTATCA	0.393000													1	1	1	1	1	1	1.000000	49	5	0	56	1	1	140	2	0	56	5
TTC40	54777	broad.mit.edu	37	10	134671120	134671120	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr10:134671120C>A	ENST00000368586.5	-	39	5648	c.5548G>T	c.(5548-5550)Gtc>Ttc	p.V1850F	TTC40_ENST00000263170.5_Missense_Mutation_p.V11F	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	13	10	0	39	11										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AGGCCCTGGACGCTGTGAAGC	0.572000													1	1	1	1	1	1	0.999995	16	13	0	52	0	0	0	0	0	52	5
CDHR5	53841	broad.mit.edu	37	11	621243	621243	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:621243G>A	ENST00000358353.3	-	8	948	c.626C>T	c.(625-627)cCg>cTg	p.P209L	CDHR5_ENST00000349570.7_Missense_Mutation_p.P209L|CDHR5_ENST00000397542.2_Missense_Mutation_p.P209L			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	20	43	0	37	209	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ATTCTCCCCCGGAGTGTCCTG	0.682000													1	1	1	1	0	1	0.999999	20	44	0	37	0	0	1	0	0	37	4
OR56B4	196335	broad.mit.edu	37	11	6129437	6129437	+	Silent	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:6129437T>G	ENST00000316529.3	+	1	524	c.429T>G	c.(427-429)acT>acG	p.T143T	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	26	58	0	87	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		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)		CCATAGTCACTAAAGCTTTTG	0.498000													1	1	1	1	0	1	1.000000	27	59	0	95	0	0	1	0	0	95	4
MYBPC3	4607	broad.mit.edu	37	11	47360082	47360082	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:47360082A>T	ENST00000545968.1	-	23	2351	c.2297T>A	c.(2296-2298)gTc>gAc	p.V766D	MYBPC3_ENST00000256993.4_Missense_Mutation_p.V765D|MYBPC3_ENST00000399249.2_Missense_Mutation_p.V766D	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	9	64	0	43	765	Ig-like C2-type 5.				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			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GATGACCTTGACTGTGAGGTT	0.617000													1	1	1	1	1	1	0.999683	13	70	0	51	0	0	0	0	0	51	5
MAP4K2	5871	broad.mit.edu	37	11	64563758	64563758	+	Missense_Mutation	SNP	G	G	A	rs148240107		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:64563758G>A	ENST00000294066.2	-	24	1829	c.1738C>T	c.(1738-1740)Cgc>Tgc	p.R580C	MAP4K2_ENST00000377350.3_Missense_Mutation_p.R572C	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	19	75	0	33	580	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			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGGATGATGCGCTGGGTGAGG	0.647000													1	1	1	1	1	1	1.000000	23	93	0	40	1	1	26	180	0	40	5
PPP6R3	55291	broad.mit.edu	37	11	68305235	68305235	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:68305235C>G	ENST00000393799.2	+	3	370	c.103C>G	c.(103-105)Cag>Gag	p.Q35E	PPP6R3_ENST00000393801.3_Missense_Mutation_p.Q35E|PPP6R3_ENST00000265636.5_Missense_Mutation_p.Q35E|PPP6R3_ENST00000265637.4_Missense_Mutation_p.Q35E|PPP6R3_ENST00000527403.2_Missense_Mutation_p.Q35E|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000524904.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000529710.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000524845.1_Missense_Mutation_p.Q35E|PPP6R3_ENST00000393800.2_Missense_Mutation_p.Q35E			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	13	31	0	30	35					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGATGTTTTACAGGAATGTAA	0.363000													1	1	1	1	1	1	0.999799	13	31	0	30	1	9.998285e-01	20	25	0	30	5
MCAM	4162	broad.mit.edu	37	11	119182524	119182524	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr11:119182524T>G	ENST00000392814.1	-	5	1855	c.1126A>C	c.(1126-1128)Att>Ctt	p.I376L	MCAM_ENST00000264036.4_Missense_Mutation_p.I427L			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	70	5	0	76	427	Ig-like C2-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TCACCAAAAATGGCCACGTTG	0.602000													1	1	1	1	1	1	1.000000	74	5	0	79	1	1	254	77	0	79	5
CHD4	1108	broad.mit.edu	37	12	6692406	6692406	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:6692406G>A	ENST00000309577.6	-	26	4181	c.4018C>T	c.(4018-4020)Cgt>Tgt	p.R1340C	CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Missense_Mutation_p.R1337C|CHD4_ENST00000357008.2_Missense_Mutation_p.R1340C|CHD4_ENST00000544040.1_Missense_Mutation_p.R1333C			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	69	107	0	116	1340					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						ACCTGTTTACGGATTCTTTTT	0.562000													1	1	1	1	1	1	1.000000	71	114	0	124	1	1	143	229	0	124	5
FAM186B	84070	broad.mit.edu	37	12	49999203	49999203	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:49999203G>A	ENST00000257894.2	-	1	219	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	FAM186B_ENST00000551047.1_Silent_p.L20L|FAM186B_ENST00000544141.1_5'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	10	22	0	27	20						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAATCCTCAGGATGATGGCT	0.517000													1	1	1	1	1	1	0.998334	10	23	0	30	0	0	0	1	0	30	5
EIF4B	1975	broad.mit.edu	37	12	53433961	53433961	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:53433961C>G	ENST00000262056.9	+	15	2116	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	RP11-983P16.4_ENST00000550601.1_RNA|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.S602C|EIF4B_ENST00000416762.3_Missense_Mutation_p.S558C|RP11-983P16.4_ENST00000546566.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	24	65	0	50	597					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(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GCTGCTCTCTCTGTTGATGGT	0.438000													1	1	1	1	0	1	1.000000	27	75	0	47	0	8.258162e-01	1	10	0	47	4
CNPY2	10330	broad.mit.edu	37	12	56705098	56705098	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:56705098C>T	ENST00000273308.4	-	4	845	c.305G>A	c.(304-306)cGc>cAc	p.R102H	RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.R102H|RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.11_ENST00000549565.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	115	111	1	124	102	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						GTAGTTCTTGCGATGGGTGGA	0.532000													1	0	1	1	0	1	1.000000	122	115	1	129	1	1	404	349	1	129	3
TRHDE	29953	broad.mit.edu	37	12	72956730	72956730	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:72956730C>G	ENST00000261180.4	+	9	1913	c.1817C>G	c.(1816-1818)aCa>aGa	p.T606R	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	32	35	0	54	606					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTGGGAAACACAACAGCAGAA	0.328000													1	1	1	1	1	1	1.000000	33	36	0	55	1	9.871321e-01	6	5	0	55	5
HECTD4	283450	broad.mit.edu	37	12	112622580	112622580	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr12:112622580C>T	ENST00000550722.1	-	61	10147	c.9752G>A	c.(9751-9753)cGc>cAc	p.R3251H	HECTD4_ENST00000430131.2_Missense_Mutation_p.R2975H|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3225H	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4	19	91	0	107																		CACCAGCAAGCGGCTGTGGGC	0.697000													1	1	1	1	1	1	0.999995	19	99	0	117	1	2.647901e-01	3	3	0	117	5
RYR3	6263	broad.mit.edu	37	15	34018592	34018592	+	Silent	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:34018592C>A	ENST00000389232.4	+	46	6988	c.6918C>A	c.(6916-6918)atC>atA	p.I2306I	RYR3_ENST00000415757.3_Silent_p.I2306I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	6	6	0	16	2306	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		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)		TCCAGCTCATCCAGACAGGAA	0.547000													1	1	1	1	1	1	0.991243	7	6	0	18	0	0	0	0	0	18	5
NR2F2	7026	broad.mit.edu	37	15	96880650	96880650	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr15:96880650C>T	ENST00000394166.3	+	3	2433	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	NR2F2_ENST00000421109.2_Silent_p.Y215Y|NR2F2_ENST00000453270.2_Silent_p.Y195Y|NR2F2_ENST00000394171.2_Silent_p.Y195Y	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	100	42	0	90	348	Important for dimerization.|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			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TGGAAGAATACGTTAGGAGCC	0.493000													1	1	1	1	1	1	1.000000	105	45	0	97	1	1	58	28	0	97	5
MYLK3	91807	broad.mit.edu	37	16	46772039	46772039	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr16:46772039G>A	ENST00000394809.4	-	3	700	c.585C>T	c.(583-585)gaC>gaT	p.D195D	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	6	3	0	13	195					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			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CCTCCAGCACGTCCGCCTTCT	0.617000													0	1	0	1	0	1	0.985116	6	3	0	13	0	0	0	0	0	13	2
NOD2	64127	broad.mit.edu	37	16	50745263	50745263	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr16:50745263G>C	ENST00000300589.2	+	4	1546	c.1441G>C	c.(1441-1443)Ggt>Cgt	p.G481R		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	41	65	0	109	481	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			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCCCTGCACGGTTTGTGCCA	0.597000													1	1	1	1	1	1	1.000000	45	68	0	112	1	5.233257e-01	3	1	0	112	5
SF3B3	23450	broad.mit.edu	37	16	70575650	70575650	+	Silent	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr16:70575650A>G	ENST00000302516.5	+	9	1357	c.1146A>G	c.(1144-1146)ggA>ggG	p.G382G		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	4	109	0	112	382					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGGAAGAAGGAGACACATTCT	0.448000													0	0	1	0	0	1	0.891618	4	116	0	117	1	9.179734e-01	5	132	0	117	1
DPEP1	1800	broad.mit.edu	37	16	89703957	89703957	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr16:89703957G>T	ENST00000393092.3	+	8	1141	c.850G>T	c.(850-852)Gcc>Tcc	p.A284S	DPEP1_ENST00000261615.4_Missense_Mutation_p.A284S|DPEP1_ENST00000421184.1_Missense_Mutation_p.A284S	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	9	92	0	127	284					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GTCCCAAGTGGCCGGTAGGTG	0.567000													1	1	0	1	0	1	0.999995	19	95	0	131	1	1.428650e-01	4	0	0	131	3
ASGR2	433	broad.mit.edu	37	17	7011223	7011223	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:7011223C>T	ENST00000380952.2	-	5	620	c.356G>A	c.(355-357)gGc>gAc	p.G119D	ASGR2_ENST00000355035.5_Missense_Mutation_p.G119D|ASGR2_ENST00000446679.2_Missense_Mutation_p.G100D|ASGR2_ENST00000254850.7_Missense_Mutation_p.G95D	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	27	1	0	36	119					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	ACCCACGCTGCCTCCTGGAAG	0.647000													1	1	1	1	1	1	1.000000	29	1	0	41	0	0	0	1	0	41	5
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs28934573		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:7577559G>T	ENST00000420246.2	-	7	854	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000269305.4_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	37	4	0	47	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.572000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	42	4	0	50	1	1	138	1	0	50	5
MYH1	4619	broad.mit.edu	37	17	10404746	10404746	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:10404746C>T	ENST00000226207.5	-	27	3513	c.3419G>A	c.(3418-3420)cGc>cAc	p.R1140H	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	52	9	0	83	1140						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R1140H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAGATCAGAGCGCTGCTTCTC	0.587000													1	1	1	1	1	1	1.000000	52	9	0	88	0	0	0	0	0	88	5
DHRS7B	25979	broad.mit.edu	37	17	21075510	21075510	+	Splice_Site	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:21075510G>T	ENST00000395511.3	+	2	519		c.e2+1		DHRS7B_ENST00000579303.1_Splice_Site	NM_015510.4	NP_056325.2	Q6IAN0	DRS7B_HUMAN	dehydrogenase/reductase (SDR family) member 7B	16	0	0	14							integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGGGCAAAGGTGGGTCCTGG	0.677000													1	1	1	1	1	1	1.000000	19	0	0	16	1	9.999979e-01	8	0	0	16	5
NPEPPS	9520	broad.mit.edu	37	17	45689855	45689855	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:45689855G>T	ENST00000322157.4	+	18	2362	c.2125G>T	c.(2125-2127)Gtt>Ttt	p.V709F	NPEPPS_ENST00000544660.1_Missense_Mutation_p.V629F|NPEPPS_ENST00000530173.1_Missense_Mutation_p.V705F|RP11-580I16.2_ENST00000582066.1_RNA|RP11-580I16.2_ENST00000582389.1_RNA	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	13	18	0	34	709					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GAGGGGCTTGGTTCTGGGAAA	0.428000													1	1	1	1	1	1	0.999940	14	20	0	37	1	1	47	55	0	37	5
ANKFN1	162282	broad.mit.edu	37	17	54558122	54558122	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr17:54558122C>G	ENST00000566473.2	+	16	2043	c.2043C>G	c.(2041-2043)taC>taG	p.Y681*	ANKFN1_ENST00000318698.2_Nonsense_Mutation_p.Y681*			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	36	71	0	100	681										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGTTCTTCTACGAGCTCCAGA	0.418000													1	1	1	1	1	1	1.000000	43	74	0	118	0	0	0	1	0	118	5
MBP	4155	broad.mit.edu	37	18	74700335	74700335	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr18:74700335C>T	ENST00000397869.3	-	4	513	c.467G>A	c.(466-468)cGa>cAa	p.R156Q	MBP_ENST00000528160.1_Intron|MBP_ENST00000526111.1_Intron|MBP_ENST00000355994.2_Intron|MBP_ENST00000579129.1_Intron|MBP_ENST00000354542.4_Intron|MBP_ENST00000397865.5_Intron|MBP_ENST00000397875.3_Intron|MBP_ENST00000578193.1_Intron|MBP_ENST00000397866.4_Intron|MBP_ENST00000527041.1_Intron|MBP_ENST00000359645.3_Intron|MBP_ENST00000382582.3_Intron|MBP_ENST00000580402.1_Intron			P02686	MBP_HUMAN	myelin basic protein	6	10	0	21	218					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		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)		AGAGAGGTCTCGAGAGGAGAG	0.567000													0	0	1	1	1	1	0.975837	6	10	0	23	0	0	0	0	0	23	3
MUC16	94025	broad.mit.edu	37	19	9058814	9058814	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:9058814T>A	ENST00000397910.4	-	3	28835	c.28632A>T	c.(28630-28632)aaA>aaT	p.K9544N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	20	19	0	43	9546	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGATATCACTTTTGTTGGCT	0.458000													1	1	1	1	1	1	1.000000	22	19	0	44	0	0	0	0	0	44	5
CYP2S1	29785	broad.mit.edu	37	19	41707232	41707232	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:41707232G>T	ENST00000310054.4	+	6	1147	c.931G>T	c.(931-933)Gtc>Ttc	p.V311F	CYP2S1_ENST00000542619.1_Missense_Mutation_p.V36F	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	36	87	0	106	311					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CAGCACCACGGTCGGCTATAC	0.498000													1	1	1	1	1	1	1.000000	39	99	0	114	1	9.998217e-01	15	23	0	114	5
ZNF234	10780	broad.mit.edu	37	19	44660704	44660704	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:44660704G>A	ENST00000426739.2	+	6	793	c.535G>A	c.(535-537)Gat>Aat	p.D179N	ZNF234_ENST00000592437.1_Missense_Mutation_p.D179N	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	35	78	0	89	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCATACATGTGATGAGTGTGG	0.388000													1	1	1	1	1	1	1.000000	37	86	0	92	1	7.394363e-01	2	6	0	92	5
RASIP1	54922	broad.mit.edu	37	19	49228098	49228098	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr19:49228098G>A	ENST00000222145.4	-	9	2451	c.2247C>T	c.(2245-2247)ggC>ggT	p.G749G		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	38	87	0	94	749	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		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)		CCTGGAACACGCCCAGGGTAG	0.612000													1	1	1	1	1	1	1.000000	39	90	0	95	1	1	68	169	0	95	5
TIAM1	7074	broad.mit.edu	37	21	32513671	32513671	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:32513671C>T	ENST00000286827.3	-	22	4098	c.3627G>A	c.(3625-3627)gcG>gcA	p.A1209A	TIAM1_ENST00000541036.1_Silent_p.A1149A	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	35	98	0	98	1209	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	p.A1209A(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTCGCTCTCCGCATCGGTCA	0.597000													1	1	1	1	1	1	1.000000	35	102	0	99	1	9.669669e-01	6	13	0	99	5
SIK1	150094	broad.mit.edu	37	21	44840174	44840174	+	Silent	SNP	G	G	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr21:44840174G>A	ENST00000270162.6	-	8	1044	c.912C>T	c.(910-912)taC>taT	p.Y304Y		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	42	32	0	44	304	UBA.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCTGCTCATCGTAGTCGCCCA	0.692000													1	1	1	1	1	1	1.000000	45	34	0	50	1	9.999966e-01	13	9	0	50	5
PKDREJ	10343	broad.mit.edu	37	22	46657752	46657752	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:46657752A>C	ENST00000253255.5	-	1	1467	c.1468T>G	c.(1468-1470)Ttc>Gtc	p.F490V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	51	57	0	123	490	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CATTTATAGAAATCACGGCTT	0.368000													1	1	1	1	1	1	1.000000	52	61	0	132	0	0	0	1	0	132	5
CELSR1	9620	broad.mit.edu	37	22	46804949	46804949	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:46804949C>G	ENST00000262738.3	-	9	5169	c.5170G>C	c.(5170-5172)Gag>Cag	p.E1724Q		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	46	3	0	46	1724	Laminin G-like 2.				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			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		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)		ACGCTGTCCTCCTTCCGGGTC	0.642000													1	1	1	1	1	1	1.000000	46	3	0	47	0	0	1	0	0	47	5
HDAC10	83933	broad.mit.edu	37	22	50686488	50686488	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr22:50686488C>A	ENST00000216271.5	-	13	1520	c.1168G>T	c.(1168-1170)Gca>Tca	p.A390S	HDAC10_ENST00000448072.1_Missense_Mutation_p.A340S|HDAC10_ENST00000498366.1_5'UTR|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.A370S	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	6	58	0	39	390					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)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		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)		GATGCAGCTGCCTTACACACT	0.652000													1	1	1	1	0	1	0.967376	6	60	0	41	1	9.928993e-01	9	92	0	41	4
PLCXD1	55344	broad.mit.edu	37	X	215882	215882	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:215882C>T	ENST00000381657.2	+	7	1366	c.852C>T	c.(850-852)gtC>gtT	p.V284V	PLCXD1_ENST00000399012.1_Silent_p.V284V|PLCXD1_ENST00000381663.3_Silent_p.V284V	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	9	74	0	76	284					intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		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)				GCGCGTGGGTCCGAGAGCAGT	0.647000													1	1	1	1	1	1	0.995015	9	81	0	80	1	9.959470e-01	17	77	0	80	5
AP1S2	8905	broad.mit.edu	37	X	15864064	15864064	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:15864064G>T	ENST00000380291.1	-	3	366	c.250C>A	c.(250-252)Cat>Aat	p.H84N	AP1S2_ENST00000545766.1_Missense_Mutation_p.H126N|AP1S2_ENST00000421527.2_Missense_Mutation_p.H126N|AP1S2_ENST00000329235.2_Missense_Mutation_p.H84N			P56377	AP1S2_HUMAN	adaptor-related protein complex 1, sigma 2 subunit	37	65	0	89	84					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					ACATAACGATGAATTATTTCC	0.318000													1	1	1	1	1	1	1.000000	41	74	0	99	0	0	0	0	0	99	5
BCOR	54880	broad.mit.edu	37	X	39931673	39931673	+	Nonsense_Mutation	SNP	G	G	A	rs121434619		TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:39931673G>A	ENST00000342274.4	-	4	3288	c.2926C>T	c.(2926-2928)Cga>Tga	p.R976*	BCOR_ENST00000378444.4_Nonsense_Mutation_p.R976*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.R976*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.R976*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	6	18	0	18	976					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			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CATTTGAATCGGTCACCCACG	0.517000			F, N, S, T	RARA	retinoblastoma, AML, APL(translocation)		oculo-facio-cardio-dental genetic						1	1	0	1	1	1	0.971721	6	19	0	18	1	9.939996e-01	4	34	0	18	4
WDR45	11152	broad.mit.edu	37	X	48933595	48933595	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:48933595T>A	ENST00000356463.3	-	8	887	c.449A>T	c.(448-450)gAc>gTc	p.D150V	WDR45_ENST00000376358.3_Missense_Mutation_p.D47V|WDR45_ENST00000396681.4_Missense_Mutation_p.D149V|WDR45_ENST00000376368.2_Missense_Mutation_p.D150V|WDR45_ENST00000376372.3_Missense_Mutation_p.D149V|WDR45_ENST00000553851.1_Missense_Mutation_p.D47V|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000322995.8_Missense_Mutation_p.D160V|WDR45_ENST00000485908.1_Missense_Mutation_p.D114V|WDR45_ENST00000473974.1_Missense_Mutation_p.D149V	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	8	25	0	22	149					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GGGGCAGAGGTCACAGAGCCC	0.597000													1	1	1	1	1	1	0.996349	9	25	0	27	0	1	0	407	0	27	5
GSPT2	23708	broad.mit.edu	37	X	51487066	51487066	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:51487066A>G	ENST00000340438.4	+	1	586	c.344A>G	c.(343-345)gAg>gGg	p.E115G		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	5	22	0	23	115					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CCTTCCCGAGAGGAACCGTTA	0.557000													1	0	1	1	1	1	0.970533	6	24	0	23	0	9.911970e-01	0	42	0	23	4
MED12	9968	broad.mit.edu	37	X	70350051	70350051	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:70350051A>C	ENST00000333646.6	+	28	4233	c.4034A>C	c.(4033-4035)aAg>aCg	p.K1345T	MED12_ENST00000374102.1_Missense_Mutation_p.K1345T|MED12_ENST00000374080.3_Missense_Mutation_p.K1345T|MED12_ENST00000478889.1_Intron	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	6	25	0	19	1345					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			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGCGCATAAAGCGCATTCTC	0.577000			M, S		uterine leiomyoma		Opitz-Kaveggia Syndrome						1	0	1	1	1	1	0.984761	7	26	0	20	0	9.997678e-01	1	79	0	20	4
CHM	1121	broad.mit.edu	37	X	85211373	85211373	+	Silent	SNP	C	C	T			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chrX:85211373C>T	ENST00000357749.2	-	8	980	c.951G>A	c.(949-951)gaG>gaA	p.E317E	CHM_ENST00000537751.1_Silent_p.E169E|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	6	21	0	14	317					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AAAATGTGATCTCTTCATATC	0.328000													1	0	1	1	1	1	0.970736	6	23	0	14	1	7.434341e-01	5	7	0	14	4
LYPLA2	11313	broad.mit.edu	37	1	24121215	24121218	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			CTGT	-	CTGT	CTGT		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr1:24121215_24121218delCTGT	ENST00000374514.3	+	10	996_999	c.689_692delCTGT	c.(688-693)ccfs	p.PV230fs	LYPLA2_ENST00000374503.3_3'UTR|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374502.3_3'UTR|LYPLA2_ENST00000374501.1_Frame_Shift_Del_p.PV163fs|LYPLA2_ENST00000374505.2_3'UTR|LYPLA2_ENST00000400061.1_3'UTR	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	5	27	0	34	230					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		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)		CTGCTGCCTCCTGTCTAACTAGTC	0.593000													0	0	1	1	0	1	0.942179	5	32	0	34	0	9.999847e-01	0	271	0	34	2
DSP	1832	broad.mit.edu	37	6	7581043	7581043	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A4RT-01A-11D-A28R-08	TCGA-N5-A4RT-10A-01D-A28U-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5c5ba0fc-0d9e-4c86-9586-5455d7fb1d62	353669cd-e066-4c65-b425-957cf45bf674	g.chr6:7581043delC	ENST00000379802.3	+	23	4961	c.4620delC	c.(4618-4620)atfs	p.I1540fs	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	60	168	0	169	1540	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCTGAGGATCGACTATGAAA	0.502000													1	1	1	1	0	1	1.000000	60	234	0	173	1	9.999999e-01	4	92	0	173	4
CDK11B	984	broad.mit.edu	37	1	1580603	1580603	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:1580603T>C	ENST00000407249.3	-	7	523	c.524A>G	c.(523-525)gAa>gGa	p.E175G	CDK11B_ENST00000341832.6_Missense_Mutation_p.E128G|CDK11B_ENST00000340677.5_Missense_Mutation_p.E162G|CDK11B_ENST00000317673.7_Missense_Mutation_p.E173G			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	5	43	0	74	172	Glu-rich.				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			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CCGCTTCCTTTCTAACTGCTC	0.602000													0	0	1	1	0	1	0.941063	5	43	0	45	0	0	0	0	0	45	2
FCRL1	115350	broad.mit.edu	37	1	157771352	157771352	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr1:157771352C>T	ENST00000368176.3	-	6	969	c.902G>A	c.(901-903)aGa>aAa	p.R301K	FCRL1_ENST00000491942.1_Missense_Mutation_p.R301K|FCRL1_ENST00000358292.3_Intron|FCRL1_ENST00000489998.1_Intron	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	12	52	0	55	301						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATGATTGCTTCTGGCCCCAGT	0.532000													1	1	1	1	1	1	0.999710	13	57	0	62	0	0	0	0	0	62	5
PNPT1	87178	broad.mit.edu	37	2	55872564	55872564	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:55872564G>A	ENST00000447944.2	-	22	1828	c.1742C>T	c.(1741-1743)gCa>gTa	p.A581V		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	8	21	0	28	581					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTCCTTTTTTGCCACTAGAAG	0.294000													1	1	1	1	1	1	0.996475	9	22	0	29	1	9.999988e-01	45	64	0	29	5
UXS1	80146	broad.mit.edu	37	2	106761661	106761661	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:106761661G>C	ENST00000283148.7	-	6	554	c.457C>G	c.(457-459)Ccc>Gcc	p.P153A	UXS1_ENST00000428048.2_Intron|UXS1_ENST00000409501.3_Missense_Mutation_p.P148A|UXS1_ENST00000479621.1_5'UTR|UXS1_ENST00000540130.1_Missense_Mutation_p.P91A	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	16	48	0	61	148					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ATGTAGAGGGGCTCCACCACG	0.527000													1	1	1	1	1	1	0.999985	17	53	0	67	1	1	16	177	0	67	5
GALNT3	2591	broad.mit.edu	37	2	166615897	166615897	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:166615897G>C	ENST00000392701.3	-	5	1797	c.1022C>G	c.(1021-1023)tCg>tGg	p.S341W	GALNT3_ENST00000409882.1_Missense_Mutation_p.S79W	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	4	26	0	39	341					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			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						ATCAGGAAGCGACTCCCAGCC	0.388000													0	0	1	0	0	1	0.894270	4	31	0	42	1	9.417255e-01	2	43	0	42	1
TTN	7273	broad.mit.edu	37	2	179635252	179635252	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:179635252G>C	ENST00000589042.1	-	35	8491	c.8267C>G	c.(8266-8268)tCt>tGt	p.S2756C	TTN_ENST00000342992.6_Missense_Mutation_p.S2756C|TTN_ENST00000342175.6_Missense_Mutation_p.S2710C|TTN_ENST00000591111.1_Missense_Mutation_p.S2756C|TTN_ENST00000360870.5_Missense_Mutation_p.S2756C|TTN_ENST00000359218.5_Missense_Mutation_p.S2710C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S2710C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10	61	0	86	2494							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTTGACAGAGATAGCATA	0.443000													1	1	1	1	1	1	0.999375	12	66	0	91	0	0	0	0	0	91	5
ALS2CR11	151254	broad.mit.edu	37	2	202483678	202483678	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:202483678G>T	ENST00000439140.1	-	1	220	c.176C>A	c.(175-177)aCg>aAg	p.T59K	ALS2CR11_ENST00000286195.3_Missense_Mutation_p.T59K|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.T59K|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.T59K	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	13	37	0	63	59										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CAGGGCCGTCGTGCCCTGGTT	0.647000													1	1	1	1	1	1	0.999894	14	37	0	69	0	0	0	0	0	69	5
SNED1	25992	broad.mit.edu	37	2	242021733	242021733	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:242021733G>A	ENST00000310397.8	+	29	4075	c.4075G>A	c.(4075-4077)Gag>Aag	p.E1359K	SNED1_ENST00000405547.3_Missense_Mutation_p.E1326K|SNED1_ENST00000342631.6_Missense_Mutation_p.E1326K	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	37	63	1	171	1359					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		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)		GCTGTTCTCCGAGACAAAGGC	0.582000													1	0	1	1	1	1	1.000000	44	75	1	188	1	9.742826e-01	4	8	1	188	4
CACNA2D3	55799	broad.mit.edu	37	3	55038789	55038789	+	Splice_Site	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:55038789G>C	ENST00000474759.1	+	32	2738		c.e32-1		CACNA2D3_ENST00000415676.2_Splice_Site|CACNA2D3_ENST00000478261.1_Splice_Site|CACNA2D3_ENST00000288197.5_Splice_Site|CACNA2D3_ENST00000490478.1_Splice_Site	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	11	39	0	62							integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTTTCCTGTAGAATTACCCTT	0.453000													1	1	1	1	1	1	0.999472	12	44	0	68	0	0	0	0	0	68	5
CCDC37	348807	broad.mit.edu	37	3	126132950	126132950	+	Silent	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:126132950G>A	ENST00000393425.1	+	4	252	c.153G>A	c.(151-153)gcG>gcA	p.A51A	CCDC37_ENST00000505024.1_Silent_p.A51A|CCDC37_ENST00000510833.1_Silent_p.A51A|CCDC37_ENST00000352312.1_Silent_p.A51A			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	61	119	1	363	51										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACCCTTCAGCGAACCCTTTCC	0.572000													1	1	1	1	1	1	1.000000	71	140	1	404	0	0	0	0	1	404	5
KCNAB1	7881	broad.mit.edu	37	3	156181519	156181519	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr3:156181519C>T	ENST00000302490.8	+	6	1328	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	KCNAB1_ENST00000389636.5_Missense_Mutation_p.L171F|KCNAB1_ENST00000389634.5_Missense_Mutation_p.L153F|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000490337.1_Missense_Mutation_p.L171F|KCNAB1_ENST00000471742.1_Missense_Mutation_p.L160F	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	8	29	0	49	171						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AACAACCAAACTCTACTGGGG	0.338000													1	1	1	1	1	1	0.995916	9	34	0	52	0	0	1	0	0	52	5
KDR	3791	broad.mit.edu	37	4	55981195	55981195	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:55981195C>A	ENST00000263923.4	-	5	799	c.504G>T	c.(502-504)aaG>aaT	p.K168N		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	3	14	0	22	168	Ig-like C2-type 2.				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			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	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)	GAACAAATCTCTTTTCTGGGT	0.383000			Mis		NSCLC, angiosarcoma					TSP Lung(20;0.16)			1	0	1	1	1	1	0.897832	4	15	0	24	0	0	0	1	0	24	4
FRAS1	80144	broad.mit.edu	37	4	79362391	79362391	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:79362391G>C	ENST00000264895.6	+	41	6045	c.5605G>C	c.(5605-5607)Gat>Cat	p.D1869H	FRAS1_ENST00000325942.6_Missense_Mutation_p.D1869H	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	5	10	0	31	1868					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTCCAGAGAGATGCCATCAT	0.423000													1	0	1	1	1	1	0.948337	5	12	0	33	0	3.779904e-01	1	3	0	33	4
NPNT	255743	broad.mit.edu	37	4	106863781	106863781	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:106863781G>T	ENST00000379987.2	+	8	1297	c.1081G>T	c.(1081-1083)Gcc>Tcc	p.A361S	NPNT_ENST00000453617.2_Missense_Mutation_p.A378S|NPNT_ENST00000506666.1_Missense_Mutation_p.A391S|NPNT_ENST00000514622.1_Missense_Mutation_p.A361S|NPNT_ENST00000427316.2_Missense_Mutation_p.A391S|NPNT_ENST00000305572.8_Missense_Mutation_p.A361S	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	13	84	0	147	361	Pro-rich.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGCACCAGCTGCCAGTACACC	0.517000													1	1	1	1	1	1	0.999827	14	89	0	162	0	6.353735e-01	1	14	0	162	5
NAA15	80155	broad.mit.edu	37	4	140272382	140272382	+	Silent	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:140272382C>T	ENST00000296543.5	+	8	1172	c.849C>T	c.(847-849)gcC>gcT	p.A283A	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Silent_p.A283A	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	14	6	0	21	283					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGAGGAAGCCTGGACTAAAT	0.318000													1	1	1	1	1	1	0.999998	16	7	0	24	1	9.999992e-01	19	6	0	24	5
KLKB1	3818	broad.mit.edu	37	4	187179284	187179284	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr4:187179284C>A	ENST00000264690.6	+	15	2022	c.1835C>A	c.(1834-1836)aCc>aAc	p.T612N	KLKB1_ENST00000513864.1_3'UTR	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	24	37	0	57	612	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		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)		GGTGTCTACACCAAAGTCGCT	0.517000													1	1	1	1	1	1	1.000000	25	37	0	58	0	3.630682e-01	1	2	0	58	5
DROSHA	29102	broad.mit.edu	37	5	31424571	31424571	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:31424571C>T	ENST00000511367.2	-	27	3468	c.3224G>A	c.(3223-3225)cGc>cAc	p.R1075H	DROSHA_ENST00000513349.1_Missense_Mutation_p.R1038H|DROSHA_ENST00000344624.3_Missense_Mutation_p.R1075H|DROSHA_ENST00000442743.1_Missense_Mutation_p.R1038H	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	5	13	0	10	1075	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			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CCAGACTTCGCGCAGGTCCTG	0.423000													0	0	1	1	1	1	0.974012	6	13	0	13	1	9.999977e-01	19	107	0	13	3
ENC1	8507	broad.mit.edu	37	5	73932112	73932112	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:73932112A>G	ENST00000302351.4	-	2	1329	c.199T>C	c.(199-201)Tgc>Cgc	p.C67R	ENC1_ENST00000510316.1_5'UTR|ENC1_ENST00000537006.1_Missense_Mutation_p.C67R	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	19	8	0	58	67	BTB.				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TAGCGACTGCATGCAGCCAGC	0.542000													1	1	1	1	1	1	1.000000	19	9	0	63	1	9.999999e-01	28	0	0	63	5
GPX3	2878	broad.mit.edu	37	5	150405020	150405020	+	Silent	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:150405020G>A	ENST00000388825.4	+	2	299	c.207G>A	c.(205-207)gtG>gtA	p.V69V	GPX3_ENST00000517973.1_Intron|GPX3_ENST00000521722.1_3'UTR	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	7	42	0	72	69					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	TTGTCAACGTGGCCAGCTACT	0.517000													1	1	1	1	1	1	0.983087	7	47	0	77	1	9.999987e-01	21	291	0	77	5
GRM6	2916	broad.mit.edu	37	5	178413522	178413522	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:178413522C>T	ENST00000231188.5	-	8	1911	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Missense_Mutation_p.R578H	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	21	6	0	28	578					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	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)		CCAGCTCAGGCGCACCACAGG	0.697000													1	1	1	1	1	1	1.000000	21	7	0	29	0	0	0	0	0	29	5
OR2V1	26693	broad.mit.edu	37	5	180551782	180551782	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr5:180551782C>T	ENST00000329365.2	-	1	522	c.523G>A	c.(523-525)Gtg>Atg	p.V175M		NM_001258283.1	NP_001245212.1			olfactory receptor, family 2, subfamily V, member 1	10	6	0	25											lung(4)	4						AAGTGATCCACGCTCCTTGAG	0.498000													1	0	0	1	0	1	0.999425	10	6	0	25	0	0	0	0	0	25	2
DSP	1832	broad.mit.edu	37	6	7585361	7585361	+	Silent	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:7585361C>T	ENST00000379802.3	+	24	8207	c.7866C>T	c.(7864-7866)atC>atT	p.I2622I	DSP_ENST00000418664.2_Silent_p.I2023I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	22	81	0	116	2622	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGCAGCCATCTTTGACACAG	0.488000													1	1	1	1	1	1	1.000000	22	84	0	124	1	1	51	127	0	124	5
DOPEY1	23033	broad.mit.edu	37	6	83839206	83839206	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:83839206C>A	ENST00000349129.2	+	16	2580	c.2320C>A	c.(2320-2322)Cgt>Agt	p.R774S	DOPEY1_ENST00000237163.5_Missense_Mutation_p.R755S|DOPEY1_ENST00000369739.3_Missense_Mutation_p.R765S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	8	24	0	47	774					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		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)		ATCAGAGTTACGTTCTGAAAA	0.393000													1	1	1	1	1	1	0.998225	10	26	0	51	0	0	0	1	0	51	5
TAAR5	9038	broad.mit.edu	37	6	132910256	132910256	+	Silent	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:132910256G>T	ENST00000258034.2	-	1	621	c.570C>A	c.(568-570)ggC>ggA	p.G190G		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	6	68	0	72	190					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GCTGGCAACTGCCCACACAAG	0.498000													0	1	1	0	0	1	0.966953	6	73	0	75	0	0	0	0	0	75	2
ARID1B	57492	broad.mit.edu	37	6	157528639	157528639	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr6:157528639C>T	ENST00000346085.5	+	20	6365	c.6364C>T	c.(6364-6366)Cgc>Tgc	p.R2122C	ARID1B_ENST00000275248.4_Missense_Mutation_p.R2104C|ARID1B_ENST00000367148.1_Missense_Mutation_p.R2162C|ARID1B_ENST00000350026.5_Missense_Mutation_p.R2109C	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	39	176	0	258	2109					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGTTGGGGATCGCAAAAACCC	0.488000													1	1	1	1	1	1	1.000000	42	190	0	280	1	9.999997e-01	27	82	0	280	5
PURB	5814	broad.mit.edu	37	7	44924851	44924851	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr7:44924851C>G	ENST00000395699.2	-	1	109	c.97G>C	c.(97-99)Gag>Cag	p.E33Q		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	3	21	0	26	33					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GAGGCCAGCTCCTGCGTCTCT	0.697000													0	0	1	0	0	1	0.812925	3	21	0	29	1	8.373690e-01	10	16	0	29	1
TRIM56	81844	broad.mit.edu	37	7	100732400	100732400	+	Missense_Mutation	SNP	G	G	A	rs111492335		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr7:100732400G>A	ENST00000306085.6	+	3	2104	c.1807G>A	c.(1807-1809)Gtg>Atg	p.V603M		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	5	86	0	165	603					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CGGGGACCGCGTGGCTGTCAG	0.692000													1	0	1	1	0	1	0.966456	6	97	0	173	1	4.242232e-02	2	3	0	173	3
CNPY1	285888	broad.mit.edu	37	7	155301672	155301672	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr7:155301672C>A	ENST00000321736.5	-	2	223	c.61G>T	c.(61-63)Gct>Tct	p.A21S	CNPY1_ENST00000406197.1_Missense_Mutation_p.A21S	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	6	18	0	51	21								p.A21T(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTCCTAGGAGCGAATCTCTTG	0.403000													1	0	1	1	1	1	0.971721	6	19	0	54	0	0	0	0	0	54	4
ZNF33A	7581	broad.mit.edu	37	10	38344803	38344803	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:38344803A>T	ENST00000374618.3	+	5	1929	c.1751A>T	c.(1750-1752)cAt>cTt	p.H584L	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Missense_Mutation_p.H583L|ZNF33A_ENST00000307441.9_Missense_Mutation_p.H583L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H590L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	25	49	0	92	583						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TACGAATGTCATGAATGTGGA	0.378000													1	1	1	1	1	1	1.000000	25	51	0	97	1	9.996363e-01	6	24	0	97	5
PCDH15	65217	broad.mit.edu	37	10	55568610	55568610	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:55568610T>C	ENST00000395445.1	-	36	5594	c.5200A>G	c.(5200-5202)Agt>Ggt	p.S1734G	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.S930G|PCDH15_ENST00000395440.1_Missense_Mutation_p.S668G|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.S599G|PCDH15_ENST00000395438.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	5	8	0	15	0					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			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCTCCTCACTTTCCACACCT	0.507000										HNSCC(58;0.16)			0	0	1	1	1	1	0.952174	5	8	0	16	1	7.232972e-01	6	0	0	16	3
IFIT1	3434	broad.mit.edu	37	10	91162764	91162764	+	Silent	SNP	A	A	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:91162764A>G	ENST00000546318.1	+	2	1926	c.639A>G	c.(637-639)ctA>ctG	p.L213L	IFIT1_ENST00000371804.3_Silent_p.L244L|LIPA_ENST00000371837.1_Intron	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	102	62	0	226	244					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGAAGCTCTAGCCAACATGT	0.418000													1	1	1	1	1	1	1.000000	108	66	0	234	1	1	35	33	0	234	5
FAM178A	0	broad.mit.edu	37	10	102689755	102689755	+	Splice_Site	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:102689755G>A	ENST00000238961.3	+	8	2481		c.e8+1		FAM178A_ENST00000370269.3_Splice_Site	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	6	13	0	18																		TTATTCTTAAGTAAGTAGAAA	0.264000													1	1	1	1	1	1	0.994215	8	13	0	20	1	6.285396e-01	5	0	0	20	5
FAM160B1	57700	broad.mit.edu	37	10	116606948	116606948	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr10:116606948C>G	ENST00000369248.4	+	12	2003	c.1668C>G	c.(1666-1668)caC>caG	p.H556Q	FAM160B1_ENST00000369250.3_Missense_Mutation_p.H556Q	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	3	22	0	38	556										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						CTCCAGACCACCCCAAAAATG	0.353000													0	0	1	0	1	1	0.812861	3	23	0	43	1	4.940053e-01	5	7	0	43	2
SART1	9092	broad.mit.edu	37	11	65729347	65729347	+	Silent	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:65729347C>T	ENST00000312397.5	+	1	188	c.96C>T	c.(94-96)caC>caT	p.H32H	SART1_ENST00000528573.1_3'UTR	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	3	9	0	25	32					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				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						cgccgcggcaccgggaacaca	0.721000													0	0	1	0	0	1	0.814286	3	9	0	26	1	2.142857e-01	2	1	0	26	1
TYR	7299	broad.mit.edu	37	11	88924523	88924523	+	Missense_Mutation	SNP	A	A	G	rs61754379		TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:88924523A>G	ENST00000263321.5	+	2	1475	c.973A>G	c.(973-975)Acc>Gcc	p.T325A	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	31	79	0	132	325			T -> A (in OCA1B).		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			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCTGAGTTTGACCCAATATGA	0.418000													1	0	1	1	1	1	1.000000	35	87	0	145	0	0	0	0	0	145	4
CNTN5	53942	broad.mit.edu	37	11	99932018	99932018	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:99932018C>T	ENST00000524871.1	+	10	1345	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	CNTN5_ENST00000527185.1_Missense_Mutation_p.A352V|CNTN5_ENST00000418526.2_Missense_Mutation_p.A278V|CNTN5_ENST00000279463.3_Missense_Mutation_p.A352V|CNTN5_ENST00000528682.1_Missense_Mutation_p.A352V	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	35	34	0	109	352	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.A352V(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		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)		AAATCTCAGGCGGTGCTGGAA	0.433000													1	1	1	1	1	1	1.000000	37	39	0	115	0	2.344937e-01	1	1	0	115	5
MPZL3	196264	broad.mit.edu	37	11	118107897	118107897	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr11:118107897A>G	ENST00000278949.4	-	3	374	c.319T>C	c.(319-321)Tac>Cac	p.Y107H	MPZL3_ENST00000527472.1_Missense_Mutation_p.Y95H|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	55	70	0	123	107	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TCCCCTTTGTATACATTTCCA	0.423000													1	1	1	1	1	1	1.000000	62	75	0	134	1	9.839345e-01	8	3	0	134	5
KIAA1551	55196	broad.mit.edu	37	12	32135825	32135825	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr12:32135825G>A	ENST00000312561.4	+	4	2350	c.1936G>A	c.(1936-1938)Gac>Aac	p.D646N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551	11	56	0	41																		CAGGGTTTTGGACAACTCCTT	0.418000													1	1	1	1	1	1	0.998786	11	60	0	42	0	9.586086e-01	0	28	0	42	5
LRP1	4035	broad.mit.edu	37	12	57571295	57571295	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr12:57571295C>T	ENST00000243077.3	+	26	4748	c.4282C>T	c.(4282-4284)Cgg>Tgg	p.R1428W		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	19	31	0	59	1428					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			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACCGTGCACCGGGAGACCGG	0.667000													1	1	1	1	1	1	1.000000	23	33	0	63	1	9.833142e-01	2	11	0	63	5
LRCH1	23143	broad.mit.edu	37	13	47262018	47262018	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr13:47262018A>C	ENST00000311191.6	+	6	1083	c.854A>C	c.(853-855)aAg>aCg	p.K285T	LRCH1_ENST00000389798.3_Missense_Mutation_p.K285T|LRCH1_ENST00000389797.3_Missense_Mutation_p.K285T	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	7	29	0	54	285										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		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)		CACATATTTAAGTATCTGAGC	0.373000													1	1	1	1	1	1	0.984194	7	31	0	58	0	5.973860e-01	0	10	0	58	5
EFNB2	1948	broad.mit.edu	37	13	107165066	107165066	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr13:107165066A>C	ENST00000245323.4	-	2	366	c.217T>G	c.(217-219)Tat>Gat	p.Y73D		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	8	53	0	88	73					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TAATATTCATACTGGCCAACA	0.388000													1	1	1	1	1	1	0.995339	9	56	0	94	1	1.136117e-01	2	2	0	94	5
VPS18	57617	broad.mit.edu	37	15	41192287	41192287	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:41192287C>G	ENST00000220509.5	+	4	1610	c.1271C>G	c.(1270-1272)aCg>aGg	p.T424R	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	7	68	0	158	424					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		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)		TGCCTGGACACGGTCCTGGCC	0.617000													1	1	1	1	1	1	0.982170	7	76	0	167	1	7.414302e-01	4	26	0	167	5
TLN2	83660	broad.mit.edu	37	15	63084975	63084975	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:63084975G>A	ENST00000561311.1	+	45	6102	c.5872G>A	c.(5872-5874)Gtc>Atc	p.V1958I	TLN2_ENST00000306829.6_Missense_Mutation_p.V1958I			Q9Y4G6	TLN2_HUMAN	talin 2	8	19	0	43	1958					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			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CGCCCGTGCCGTCACGGAAAA	0.577000													1	1	1	1	1	1	0.998334	10	23	0	47	0	9.183252e-01	0	13	0	47	5
PEAK1	79834	broad.mit.edu	37	15	77473103	77473103	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:77473103C>G	ENST00000560626.2	-	4	1641	c.1166G>C	c.(1165-1167)aGt>aCt	p.S389T	PEAK1_ENST00000558305.1_Missense_Mutation_p.S389T|PEAK1_ENST00000312493.4_Missense_Mutation_p.S389T			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	9	28	0	59	389	Ser-rich.				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										ACTAGAGGGACTTTCATAATT	0.413000													1	1	1	1	1	1	0.996134	9	29	0	59	0	6.707317e-02	0	2	0	59	5
MAN2A2	4122	broad.mit.edu	37	15	91447499	91447499	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr15:91447499C>G	ENST00000360468.3	+	1	80	c.62C>G	c.(61-63)tCg>tGg	p.S21W	MAN2A2_ENST00000559717.1_Missense_Mutation_p.S21W	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	25	44	0	143	21					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			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCAGTCTTCTCGCTCTACCTC	0.557000													1	1	1	1	1	1	1.000000	27	52	0	155	1	6.645483e-01	2	4	0	155	5
MMP2	0	broad.mit.edu	37	16	55523609	55523609	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:55523609C>A	ENST00000219070.4	+	7	1562	c.1053C>A	c.(1051-1053)ttC>ttA	p.F351L	MMP2_ENST00000437642.2_Missense_Mutation_p.F301L|MMP2_ENST00000543485.1_Missense_Mutation_p.F275L|MMP2_ENST00000570308.1_Missense_Mutation_p.F275L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	28	49	0	159	351	Collagen-binding.|Fibronectin type-II 3.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		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)	CCTGTGTCTTCCCCTTCACTT	0.577000													1	1	1	1	1	1	1.000000	28	51	0	173	1	1	107	121	0	173	5
CDK10	8558	broad.mit.edu	37	16	89762026	89762026	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr16:89762026A>C	ENST00000331006.8	+	12	2609	c.868A>C	c.(868-870)Acc>Ccc	p.T290P	CDK10_ENST00000505473.1_Intron|CDK10_ENST00000353379.7_Missense_Mutation_p.T337P			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	5	9	0	17	337	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GCTCATGCCGACCTTTCCCCA	0.672000													1	0	1	1	1	1	0.949969	5	10	0	19	1	9.995587e-01	14	36	0	19	4
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:7578395G>C	ENST00000420246.2	-	5	667	c.535C>G	c.(535-537)Cat>Gat	p.H179D	TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179D|TP53_ENST00000445888.2_Missense_Mutation_p.H179D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	28	7	0	66	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		CAGCGCTCATGGTGGGGGCAG	0.642000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	32	7	0	72	1	1	107	1	0	72	5
GPATCH8	23131	broad.mit.edu	37	17	42478776	42478776	+	Silent	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:42478776T>C	ENST00000434000.1	-	9	717	c.435A>G	c.(433-435)gtA>gtG	p.V145V	GPATCH8_ENST00000591680.1_Silent_p.V223V			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	22	63	0	116	223						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTTCTTCATCTACAGCCACTG	0.418000													1	1	1	1	1	1	1.000000	25	69	0	125	1	9.431444e-01	6	10	0	125	5
SEPT9	10801	broad.mit.edu	37	17	75471732	75471732	+	Silent	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr17:75471732G>A	ENST00000427180.1	+	1	408	c.132G>A	c.(130-132)acG>acA	p.T44T	SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000591088.1_Intron	NM_001113495.1	NP_001106967.1	Q9UHD8	SEPT9_HUMAN	septin 9	7	17	0	43	235					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GCATTGTTACGAGGCAAAGTA	0.667000													1	1	1	1	1	1	0.986371	7	17	0	48	0	0	0	0	0	48	5
DTNA	1837	broad.mit.edu	37	18	32459673	32459673	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr18:32459673C>T	ENST00000283365.9	+	19	2251	c.1900C>T	c.(1900-1902)Cgt>Tgt	p.R634C	DTNA_ENST00000591182.1_Missense_Mutation_p.R339C|DTNA_ENST00000598334.1_Missense_Mutation_p.R631C|DTNA_ENST00000399097.3_Missense_Mutation_p.R339C|DTNA_ENST00000556414.3_Missense_Mutation_p.R343C|DTNA_ENST00000601125.1_Missense_Mutation_p.R313C|DTNA_ENST00000399113.3_Missense_Mutation_p.R691C|DTNA_ENST00000399121.5_Missense_Mutation_p.R638C|DTNA_ENST00000595022.1_Missense_Mutation_p.R631C|DTNA_ENST00000269190.7_Missense_Mutation_p.R692C|DTNA_ENST00000269192.7_Missense_Mutation_p.R400C|DTNA_ENST00000598142.1_Missense_Mutation_p.R634C|DTNA_ENST00000590831.2_Missense_Mutation_p.R117C|DTNA_ENST00000444659.1_Missense_Mutation_p.R691C	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	4	23	0	38	691					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.R339C(1)|p.R691C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AAGTACCATGCGTGGCGACAT	0.433000													1	0	1	1	1	1	0.895102	4	25	0	41	0	1.346602e-01	1	3	0	41	4
MBD1	4152	broad.mit.edu	37	18	47796419	47796419	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr18:47796419C>A	ENST00000339998.6	-	14	1753	c.1615G>T	c.(1615-1617)Gac>Tac	p.D539Y	MBD1_ENST00000590208.1_Intron|MBD1_ENST00000269468.5_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000585595.1_Intron|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000591416.1_3'UTR|MBD1_ENST00000424334.2_Intron|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000436910.1_Intron	NM_001204142.1	NP_001191071.1	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	7	82	0	102	0	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			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AGATCATTGTCAAAATTACCA	0.408000													1	0	1	1	0	1	0.981880	7	93	0	109	0	9.773640e-01	0	94	0	109	3
C19orf70	125988	broad.mit.edu	37	19	5679659	5679659	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:5679659G>T	ENST00000309324.4	-	2	554	c.145C>A	c.(145-147)Ccc>Acc	p.P49T	C19orf70_ENST00000587950.1_Missense_Mutation_p.P71T|C19orf70_ENST00000587589.1_Missense_Mutation_p.P49T|RPL36_ENST00000579649.1_Intron|C19orf70_ENST00000585605.1_5'UTR|C19orf70_ENST00000590389.1_Missense_Mutation_p.P71T	NM_205767.1	NP_991330.1	Q5XKP0	QIL1_HUMAN	chromosome 19 open reading frame 70	10	22	0	80	49							protein binding			endometrium(1)|lung(1)	2						ATGGCGGGGGGGACCACCTCC	0.657000													1	1	1	1	1	1	0.998296	10	24	0	89	1	1	92	142	0	89	5
NWD1	284434	broad.mit.edu	37	19	16870140	16870140	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:16870140G>A	ENST00000524140.2	+	7	2292	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	NWD1_ENST00000552788.1_Missense_Mutation_p.R625H|NWD1_ENST00000549814.1_Missense_Mutation_p.R625H|NWD1_ENST00000523826.1_Missense_Mutation_p.R419H|NWD1_ENST00000379808.3_Missense_Mutation_p.R625H|NWD1_ENST00000339803.6_Missense_Mutation_p.R490H	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	10	30	0	62	625	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGCTGCTGCGCTTCCCGCCC	0.652000													1	0	1	1	0	1	0.999020	11	34	0	64	0	0	0	0	0	64	3
ZNF585A	199704	broad.mit.edu	37	19	37647149	37647149	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:37647149T>C	ENST00000356958.4	-	3	439	c.181A>G	c.(181-183)Agc>Ggc	p.S61G	ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000292841.5_Missense_Mutation_p.S6G|ZNF585A_ENST00000392157.2_Missense_Mutation_p.S6G|ZNF585A_ENST00000355533.2_Missense_Mutation_p.S6G			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	10	30	0	76	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCAGGTGGCTGTAGGTCTCC	0.522000													1	0	1	1	1	1	0.999095	11	30	0	81	0	0	1	0	0	81	4
ZNF569	148266	broad.mit.edu	37	19	37916765	37916765	+	Nonstop_Mutation	SNP	C	C	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:37916765C>A	ENST00000589833.1	-	4	527	c.315G>T	c.(313-315)taG>taT	p.*105Y	ZNF569_ENST00000316950.6_Intron|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000392149.2_Intron			Q5MCW4	ZN569_HUMAN	zinc finger protein 569	64	294	0	493	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCTTCCACTAACCTTGCC	0.418000													1	1	0	1	0	1	1.000000	71	328	0	542	1	8.309694e-01	2	15	0	542	3
SAMD4B	55095	broad.mit.edu	37	19	39868449	39868449	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:39868449C>T	ENST00000314471.6	+	10	2464	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.R477W	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	5	53	0	67	477							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	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)			CCAGTTTACACGGGTGATGGG	0.592000													1	0	1	1	1	1	0.967499	6	57	0	74	1	9.977204e-01	13	113	0	74	4
ZNF780A	284323	broad.mit.edu	37	19	40580527	40580527	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:40580527T>G	ENST00000450241.2	-	6	2031	c.1720A>C	c.(1720-1722)Act>Cct	p.T574P	ZNF780A_ENST00000595687.2_Missense_Mutation_p.T608P|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.T609P|ZNF780A_ENST00000594395.1_Missense_Mutation_p.T609P|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.T608P			O75290	Z780A_HUMAN	zinc finger protein 780A	7	76	0	121	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTCTCACCAGTATGCAATTTC	0.413000													1	1	1	1	0	1	0.982110	7	79	0	133	0	2.553626e-02	0	3	0	133	4
CEACAM5	1048	broad.mit.edu	37	19	42223865	42223865	+	Silent	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:42223865C>G	ENST00000221992.6	+	7	1623	c.1509C>G	c.(1507-1509)ccC>ccG	p.P503P	CEACAM5_ENST00000405816.1_Silent_p.P503P|CEACAM5_ENST00000398599.4_Silent_p.P502P|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	23	127	0	234	503	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGCCCAAGCCCTCCATCTCCA	0.532000													1	1	1	1	1	1	1.000000	24	131	0	249	0	0	0	0	0	249	5
SCAF1	58506	broad.mit.edu	37	19	50154615	50154615	+	Silent	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:50154615C>T	ENST00000360565.3	+	7	1093	c.969C>T	c.(967-969)gaC>gaT	p.D323D		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	13	8	0	26	323					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		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)		CCCGCCCGGACGCGCAGCCCA	0.697000													1	1	1	1	0	1	0.999930	13	11	0	29	1	1	42	26	0	29	4
PPP2R1A	5518	broad.mit.edu	37	19	52715971	52715971	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:52715971C>T	ENST00000322088.6	+	5	594	c.536C>T	c.(535-537)cCc>cTc	p.P179L	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	42	7	0	97	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen 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	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	1.000000	63	9	0	101	1	1	325	8	0	101	5
PPP2R1A	5518	broad.mit.edu	37	19	52719088	52719088	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr19:52719088G>T	ENST00000322088.6	+	7	922	c.864G>T	c.(862-864)caG>caT	p.Q288H	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q109H|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q233H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	16	60	0	91	288	PP2A subunit B binding.|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			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ctgccttccagaacCTGATGA	0.612000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	0.999983	17	67	0	104	1	1	171	338	0	104	5
TMPRSS15	5651	broad.mit.edu	37	21	19685352	19685352	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:19685352C>T	ENST00000284885.3	-	18	2108	c.2075G>A	c.(2074-2076)cGg>cAg	p.R692Q		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	7	32	0	69	692	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GATTCTGAACCGCACTAAACC	0.448000													1	1	1	1	1	1	0.991601	8	38	0	79	0	6.573226e-01	0	12	0	79	5
B3GALT5	10317	broad.mit.edu	37	21	41033136	41033136	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr21:41033136C>G	ENST00000380620.3	+	5	1242	c.650C>G	c.(649-651)aCc>aGc	p.T217S	B3GALT5_ENST00000398714.2_Missense_Mutation_p.T217S|B3GALT5_ENST00000380618.1_Missense_Mutation_p.T217S|B3GALT5_ENST00000343118.4_Missense_Mutation_p.T217S|AF064860.5_ENST00000416555.1_RNA			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	33	38	0	120	217					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TGCTCCGGCACCGGCTACGTG	0.512000													1	1	1	1	1	1	1.000000	35	41	0	125	0	0	0	0	0	125	5
SLC5A1	6523	broad.mit.edu	37	22	32480588	32480588	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr22:32480588G>T	ENST00000266088.4	+	8	1077	c.827G>T	c.(826-828)tGg>tTg	p.W276L	SLC5A1_ENST00000543737.1_Missense_Mutation_p.W149L	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	5	53	0	74	276					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GACCTCCCATGGCCTGGGTTC	0.537000													1	0	1	1	0	1	0.967416	6	59	0	80	0	6.161011e-02	1	3	0	80	3
WDR13	64743	broad.mit.edu	37	X	48458098	48458098	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:48458098T>A	ENST00000218056.5	+	4	1021	c.516T>A	c.(514-516)gaT>gaA	p.D172E	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	17	32	0	98	172						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						AGCACGTGGATGAGGCAGGTG	0.572000													1	1	1	1	1	1	0.999998	19	36	0	106	1	1	78	114	0	106	5
GPC3	2719	broad.mit.edu	37	X	132888171	132888171	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:132888171T>C	ENST00000370818.3	-	3	815	c.370A>G	c.(370-372)Aac>Gac	p.N124D	GPC3_ENST00000394299.2_Missense_Mutation_p.N124D|GPC3_ENST00000543339.1_Missense_Mutation_p.N70D	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	50	86	0	142	124						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TTGGTGTAGTTCTTGGCATGG	0.368000			T, D, Mis, N, F, S			Wilms tumour			Simpson-Golabi-Behmel syndrome				1	1	1	1	1	1	1.000000	58	94	0	151	0	1	0	1005	0	151	5
PLXNA3	55558	broad.mit.edu	37	X	153692521	153692521	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:153692521G>A	ENST00000369682.3	+	8	1868	c.1693G>A	c.(1693-1695)Gtg>Atg	p.V565M		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	24	16	0	32	565					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	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)					CCTGCACAACGTGCCAGACCT	0.697000													1	1	1	1	1	1	1.000000	25	17	0	34	0	9.997493e-01	0	15	0	34	5
F8	2157	broad.mit.edu	37	X	154185347	154185347	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:154185347C>T	ENST00000360256.4	-	11	1837	c.1637G>A	c.(1636-1638)cGg>cAg	p.R546Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	79	98	0	171	546	F5/8 type A 2.|Plastocyanin-like 3.		R -> W (in HEMA; mild; dbSNP:rs28937277).		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			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	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)	GGTCAGGCACCGAGGATCTGA	0.413000													1	1	1	1	1	1	1.000000	86	107	0	177	0	0	0	0	0	177	5
BRCC3	79184	broad.mit.edu	37	X	154305493	154305493	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:154305493C>T	ENST00000369462.1	+	4	269	c.244C>T	c.(244-246)Cgt>Tgt	p.R82C	MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_Missense_Mutation_p.R82C|BRCC3_ENST00000399042.1_Missense_Mutation_p.R82C|BRCC3_ENST00000340647.4_Missense_Mutation_p.R83C|BRCC3_ENST00000330045.7_Missense_Mutation_p.R82C	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	49	39	0	75	82					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	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)					CATCTTACGACGTTCTGATAA	0.413000													1	1	1	1	1	1	1.000000	52	42	0	80	0	1	0	43	0	80	5
BCL2L11	10018	broad.mit.edu	37	2	111921771	111921772	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chr2:111921771_111921772insA	ENST00000393256.3	+	4	833_834	c.560_561insA	c.(559-561)tcgfs	p.S187fs	BCL2L11_ENST00000308659.8_Frame_Shift_Ins_p.S127fs	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	25	41	0	77	187					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TTACGACTGTTACGTTACATTG	0.436000													1	1	1	1	0	1	1.000000	25	66	0	79	1	9.959467e-01	11	16	0	79	4
APEX2	27301	broad.mit.edu	37	X	55033376	55033379	+	Frame_Shift_Del	DEL	GACG	GACG	-			TCGA-N5-A4RU-01A-31D-A28R-08	TCGA-N5-A4RU-10A-01D-A28U-08			GACG	-	GACG	GACG		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	242dd42e-f133-49c1-be40-6a2705b818da	ecba6980-a54c-4260-a022-f43e92e84e79	g.chrX:55033376_55033379delGACG	ENST00000374987.3	+	6	1131_1134	c.1065_1068delGACG	c.(1063-1068)tcfs	p.ST355fs		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	11	51	0	66	355					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	p.T356T(1)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TGGAGCAGTCGACGCTGCAGCACA	0.569000								Other BER factors					1	1	1	1	0	1	0.998774	11	62	0	65	0	9.998309e-01	0	100	0	65	4
ZZZ3	26009	broad.mit.edu	37	1	78044547	78044547	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:78044547C>A	ENST00000370801.3	-	11	2565	c.2090G>T	c.(2089-2091)aGc>aTc	p.S697I	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.S203I	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	5	10	0	17	697	HTH myb-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTGTACTCGGCTGGCAACCTA	0.343000													1	0	1	1	1	1	0.949969	5	10	0	19	1	9.091787e-01	4	8	0	19	4
LPPR4	0	broad.mit.edu	37	1	99764627	99764627	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:99764627T>A	ENST00000370185.3	+	4	1072	c.575T>A	c.(574-576)aTt>aAt	p.I192N	LPPR4_ENST00000457765.1_Missense_Mutation_p.I192N|LPPR4_ENST00000370184.1_Missense_Mutation_p.I34N	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		11	16	0	35	192							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		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)		ACAGCTCTCATTACAGATATC	0.368000													1	1	1	1	1	1	0.999379	11	17	0	38	0	0	0	0	0	38	5
SETDB1	9869	broad.mit.edu	37	1	150921998	150921998	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:150921998A>G	ENST00000271640.5	+	12	1767	c.1577A>G	c.(1576-1578)tAt>tGt	p.Y526C	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.Y526C	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	27	89	0	69	526					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			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	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)			AACCAGACATATAGGTGAGAA	0.502000													1	1	1	1	1	1	1.000000	29	94	0	76	0	8.092373e-01	0	12	0	76	5
C1orf74	148304	broad.mit.edu	37	1	209956665	209956665	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:209956665C>G	ENST00000294811.1	-	2	571	c.315G>C	c.(313-315)gaG>gaC	p.E105D		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	16	45	0	62	105										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GCAGCACCTGCTCCAAGTGCT	0.532000													1	1	1	1	1	1	0.999987	17	49	0	67	1	6.546200e-01	2	6	0	67	5
RD3	343035	broad.mit.edu	37	1	211652494	211652494	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:211652494G>A	ENST00000367002.4	-	3	1635	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	9	31	0	21	158					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GGCGAGATGCGCGCGCGGGTC	0.692000													1	1	1	1	1	1	0.995878	9	35	0	23	0	0	0	0	0	23	5
MXD1	4084	broad.mit.edu	37	2	70165331	70165331	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:70165331G>C	ENST00000264444.2	+	6	841	c.581G>C	c.(580-582)aGc>aCc	p.S194T	MXD1_ENST00000540449.1_Missense_Mutation_p.S184T|MXD1_ENST00000465446.1_3'UTR	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	33	77	0	120	194					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						AGCATGCAGAGCCTCGGCAGT	0.562000													1	1	1	1	1	1	1.000000	37	84	0	123	0	0	1	0	0	123	5
LRP1B	53353	broad.mit.edu	37	2	141108430	141108430	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:141108430G>A	ENST00000389484.3	-	77	12799	c.11828C>T	c.(11827-11829)cCa>cTa	p.P3943L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	31	16	0	59	3943					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		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)		AATTCCGCCTGGATTAAACTG	0.328000										TSP Lung(27;0.18)			1	1	1	1	1	1	1.000000	31	16	0	62	0	0	0	0	0	62	5
KIF1A	547	broad.mit.edu	37	2	241713633	241713633	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:241713633T>A	ENST00000498729.2	-	12	1250	c.1004A>T	c.(1003-1005)gAc>gTc	p.D335V	KIF1A_ENST00000320389.7_Missense_Mutation_p.D335V	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	27	8	0	48	335	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		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)		GTAGTTGATGTCTGCAGGACT	0.587000													1	1	1	1	1	1	1.000000	30	9	0	54	0	0	0	0	0	54	5
MYRIP	25924	broad.mit.edu	37	3	40231702	40231702	+	Silent	SNP	A	A	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:40231702A>G	ENST00000302541.6	+	10	1755	c.1413A>G	c.(1411-1413)agA>agG	p.R471R	MYRIP_ENST00000444716.1_Silent_p.R471R|MYRIP_ENST00000539167.1_Silent_p.R284R|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.R471R|MYRIP_ENST00000396217.3_Silent_p.R382R	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	32	60	0	102	471	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACCAGGCCAGACTGTCCTGGT	0.622000													1	1	1	1	1	1	1.000000	33	64	0	110	0	0	0	0	0	110	5
DNAH1	25981	broad.mit.edu	37	3	52431061	52431061	+	Splice_Site	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:52431061G>A	ENST00000420323.2	+	73	12048		c.e73+1			NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	6	10	0	15						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			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				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)		CGACCTCCACGTGAGTCCAGC	0.632000													0	0	1	0	0	1	0.994690	8	11	0	15	1	7.754941e-01	2	4	0	15	1
SLCO2A1	6578	broad.mit.edu	37	3	133664065	133664065	+	Silent	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:133664065G>T	ENST00000310926.4	-	10	1608	c.1335C>A	c.(1333-1335)cgC>cgA	p.R445R	SLCO2A1_ENST00000493729.1_Silent_p.R369R	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	56	305	0	300	445	Kazal-like.				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						AGCAGTCCCTGCGGCAGGCAG	0.522000													1	1	1	1	1	1	1.000000	63	321	0	332	0	3.265911e-01	1	6	0	332	5
SI	6476	broad.mit.edu	37	3	164704992	164704992	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:164704992T>G	ENST00000264382.3	-	45	5193	c.5131A>C	c.(5131-5133)Att>Ctt	p.I1711L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	12	29	0	61	1711	Sucrase.				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			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GCAGCAACAATGAGCTTCATG	0.343000										HNSCC(35;0.089)			1	1	1	1	1	1	0.999799	13	31	0	66	0	0	0	0	0	66	5
SLITRK3	22865	broad.mit.edu	37	3	164908297	164908297	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:164908297G>T	ENST00000475390.1	-	2	765	c.322C>A	c.(322-324)Ctt>Att	p.L108I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L108I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	23	10	0	51	108						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGTTCCCAAGATTAATAGAC	0.343000										HNSCC(40;0.11)			1	1	1	1	1	1	1.000000	24	10	0	57	0	0	0	0	0	57	5
MFI2	4241	broad.mit.edu	37	3	196736583	196736583	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:196736583G>A	ENST00000296350.5	-	11	1544	c.1431C>T	c.(1429-1431)caC>caT	p.H477H		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	51	28	0	96	477	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	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)		CGAAACCGGCGTGGCAGGAGC	0.637000													1	1	1	1	1	1	1.000000	56	33	0	103	1	9.656185e-01	3	3	0	103	5
TMEM144	55314	broad.mit.edu	37	4	159140504	159140504	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr4:159140504G>A	ENST00000514558.1	+	5	2171	c.375G>A	c.(373-375)ccG>ccA	p.P125P	TMEM144_ENST00000296529.6_Silent_p.P125P			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	31	74	0	80	125						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TATCAAATCCGCTGCTAAATT	0.363000													1	1	1	1	1	1	1.000000	34	86	0	94	0	0	0	0	0	94	5
C5orf51	285636	broad.mit.edu	37	5	41904475	41904475	+	Silent	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:41904475G>C	ENST00000381647.2	+	1	25	c.6G>C	c.(4-6)gcG>gcC	p.A2A	C5orf51_ENST00000505931.2_Intron	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	14	21	0	45	2										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TGGCCATGGCGGCCGCAGTCT	0.662000													1	1	1	1	1	1	0.999965	15	26	0	52	0	0	1	0	0	52	5
IL6ST	3572	broad.mit.edu	37	5	55265552	55265552	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:55265552C>T	ENST00000381298.2	-	4	508	c.196G>A	c.(196-198)Gtc>Atc	p.V66I	IL6ST_ENST00000522633.2_Missense_Mutation_p.V66I|IL6ST_ENST00000336909.5_Missense_Mutation_p.V66I|IL6ST_ENST00000536319.1_Missense_Mutation_p.V66I|IL6ST_ENST00000502326.3_Missense_Mutation_p.V66I|IL6ST_ENST00000381294.3_Missense_Mutation_p.V66I|IL6ST_ENST00000381287.4_Missense_Mutation_p.V66I|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381293.2_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	13	35	0	32	66	Ig-like C2-type.				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			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				GTTTTCCAGACAATGTAATTA	0.318000			O		hepatocellular ca								1	1	1	1	1	1	0.999896	14	36	0	32	0	0	1	0	0	32	5
F2RL1	2150	broad.mit.edu	37	5	76115089	76115089	+	Splice_Site	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:76115089G>T	ENST00000296677.4	+	1	288	c.82_splice	c.e1+1	p.G28_splice		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	4	7	0	20	28					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			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		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)		CACCATCCAAGGTGAGAAACC	0.672000													1	0	1	1	1	1	0.953593	5	7	0	23	0	0	0	0	0	23	4
ANXA6	309	broad.mit.edu	37	5	150512081	150512081	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr5:150512081C>G	ENST00000354546.5	-	10	919	c.692G>C	c.(691-693)cGa>cCa	p.R231P	ANXA6_ENST00000523714.1_Missense_Mutation_p.R199P|ANXA6_ENST00000356496.5_Missense_Mutation_p.R231P|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	9	19	0	34	231						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	p.R231Q(1)		endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCTCCCCTCGGATGCTGGC	0.552000													1	1	1	1	1	1	0.996615	9	21	0	36	1	1	87	176	0	36	5
EHMT2	10919	broad.mit.edu	37	6	31848029	31848029	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:31848029G>A	ENST00000395728.3	-	27	3635	c.3636C>T	c.(3634-3636)ggC>ggT	p.G1212G	EHMT2_ENST00000375530.4_Silent_p.G1121G|EHMT2_ENST00000375528.4_Silent_p.G1178G|EHMT2_ENST00000375537.4_Silent_p.G1155G|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	4	37	0	29	1155					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGAAGCGGTCGCCATAGTCAA	0.567000													0	0	1	0	1	1	0.893282	4	43	0	30	1	9.999965e-01	187	569	0	30	2
TREML2	79865	broad.mit.edu	37	6	41162265	41162265	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:41162265A>C	ENST00000483722.1	-	3	868	c.683T>G	c.(682-684)aTc>aGc	p.I228S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	21	18	0	29	228					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTAGTGGAGATGGATTCTGG	0.622000													1	1	1	1	1	1	1.000000	22	18	0	33	0	0	0	0	0	33	5
PRDM1	639	broad.mit.edu	37	6	106552814	106552814	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:106552814C>A	ENST00000369096.4	+	5	1013	c.779C>A	c.(778-780)cCc>cAc	p.P260H	PRDM1_ENST00000369091.2_Missense_Mutation_p.P224H|PRDM1_ENST00000369089.3_Missense_Mutation_p.P126H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	201	223	0	385	260					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	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)		GACTCCAACCCCTCCAAAGGA	0.468000			D, N, Mis, F, S		DLBCL								1	1	1	1	1	1	1.000000	209	239	0	417	0	0	0	0	0	417	5
STX7	8417	broad.mit.edu	37	6	132792624	132792624	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:132792624A>C	ENST00000367941.2	-	5	478	c.365T>G	c.(364-366)gTa>gGa	p.V122G	STX7_ENST00000448348.3_5'UTR|STX7_ENST00000367937.4_Missense_Mutation_p.V122G	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	38	55	0	88	122					intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ACTGGCTCTTACTCGAGCAAC	0.428000													1	1	1	1	1	1	1.000000	41	57	0	96	1	9.999998e-01	23	18	0	96	5
IGF2R	3482	broad.mit.edu	37	6	160517488	160517488	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr6:160517488G>C	ENST00000356956.1	+	45	6821	c.6673G>C	c.(6673-6675)Gtg>Ctg	p.V2225L	IGF2R_ENST00000475584.1_3'UTR	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	19	196	0	183	2225					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	p.V2225M(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TCTCGATGTCGTGTTTGCCTC	0.512000													1	1	1	1	0	1	0.999996	20	216	0	196	1	8.397873e-01	3	35	0	196	4
OR2A12	346525	broad.mit.edu	37	7	143792722	143792722	+	Silent	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:143792722C>T	ENST00000408949.2	+	1	582	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	33	72	0	144	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAAAGATCAACCACTTTTTCT	0.463000													1	1	1	1	1	1	1.000000	33	72	0	149	0	0	0	0	0	149	5
ATG9B	285973	broad.mit.edu	37	7	150715385	150715385	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr7:150715385C>T	ENST00000605938.1	-	7	1943	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Missense_Mutation_p.R109Q|ATG9B_ENST00000377974.2_Missense_Mutation_p.R623Q	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	12	27	0	50	623					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCACCGCTCGGTACTGCAG	0.711000											OREG0018444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999789	13	33	0	55	0	2.107143e-01	1	2	0	55	5
MSC	9242	broad.mit.edu	37	8	72756427	72756427	+	Translation_Start_Site	SNP	T	T	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr8:72756427T>A	ENST00000325509.4	-	0	276				RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	29	17	0	32						transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			GTTGTCCCCCTTGCCCACACG	0.692000													1	0	1	1	0	1	1.000000	31	19	0	34	1	9.999994e-01	4	20	0	34	3
CSMD3	114788	broad.mit.edu	37	8	113358408	113358408	+	Silent	SNP	A	A	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr8:113358408A>C	ENST00000297405.5	-	41	6604	c.6360T>G	c.(6358-6360)ggT>ggG	p.G2120G	CSMD3_ENST00000343508.3_Silent_p.G2080G|CSMD3_ENST00000455883.2_Silent_p.G2016G|CSMD3_ENST00000352409.3_Silent_p.G2050G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	71	48	0	80	2120	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAGGATCACACCACTGAAGT	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			1	1	1	1	1	1	1.000000	72	49	0	85	0	3.541831e-01	1	1	0	85	5
CSMD3	114788	broad.mit.edu	37	8	113585824	113585824	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr8:113585824G>A	ENST00000297405.5	-	24	4192	c.3948C>T	c.(3946-3948)cgC>cgT	p.R1316R	CSMD3_ENST00000343508.3_Silent_p.R1276R|CSMD3_ENST00000455883.2_Silent_p.R1212R|CSMD3_ENST00000352409.3_Silent_p.R1316R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	26	143	0	105	1316	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGTCAGTCCGCGCATAGATG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			1	1	1	1	1	1	1.000000	33	157	0	116	0	0	0	1	0	116	5
C8orf76	84933	broad.mit.edu	37	8	124250155	124250155	+	Silent	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr8:124250155G>T	ENST00000276704.4	-	3	291	c.240C>A	c.(238-240)atC>atA	p.I80I	ZHX1-C8ORF76_ENST00000357082.4_Silent_p.I48I|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	34	45	0	45	80							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			ATTTTTCAGAGATACTGGAAT	0.423000													1	1	1	1	1	1	1.000000	36	48	0	50	1	1	28	28	0	50	5
DIRAS2	0	broad.mit.edu	37	9	93375839	93375839	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr9:93375839G>A	ENST00000375765.3	-	2	659	c.271C>T	c.(271-273)Cga>Tga	p.R91*		NM_017594.3	NP_060064.2	Q96HU8	DIRA2_HUMAN	DIRAS family, GTP-binding RAS-like 2	86	4	0	146	91					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						AAGGACTGTCGGCTGGTAATG	0.582000													1	1	1	1	1	1	1.000000	91	5	0	157	1	9.987073e-01	4	0	0	157	5
NOTCH1	4851	broad.mit.edu	37	9	139400313	139400313	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr9:139400313A>T	ENST00000277541.6	-	25	4110	c.4035T>A	c.(4033-4035)tgT>tgA	p.C1345*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	9	2	0	26	1345	EGF-like 34.				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			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTCATTCTCACACGTGGCGC	0.726000			T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)			1	1	1	1	0	1	0.999981	12	2	0	27	1	6.691176e-01	2	0	0	27	4
SCD	6319	broad.mit.edu	37	10	102108089	102108089	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr10:102108089A>T	ENST00000370355.2	+	2	677	c.296A>T	c.(295-297)tAc>tTc	p.Y99F		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	95	68	0	99	99					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TGCAAGTTCTACACCTGGCTT	0.493000													1	1	1	1	1	1	1.000000	104	74	0	106	0	6.231761e-01	1	2	0	106	5
CCDC88B	283234	broad.mit.edu	37	11	64111265	64111265	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:64111265C>T	ENST00000356786.5	+	13	1378	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	6	10	0	10	445					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTAGCAGGAGCGGCCCCCTCG	0.637000													0	1	1	1	1	1	0.988321	7	11	0	10	0	5.169960e-01	0	4	0	10	4
CATSPER1	117144	broad.mit.edu	37	11	65784607	65784607	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:65784607G>T	ENST00000312106.5	-	11	2377	c.2240C>A	c.(2239-2241)gCa>gAa	p.A747E		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	13	16	0	24	747					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTCCACGCTTGCCACCAGCTG	0.642000													1	1	1	1	0	1	0.999950	14	17	0	25	1	9.969480e-01	6	11	0	25	4
DYNC2H1	79659	broad.mit.edu	37	11	103182702	103182702	+	Silent	SNP	T	T	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:103182702T>C	ENST00000375735.2	+	79	11733	c.11589T>C	c.(11587-11589)gcT>gcC	p.A3863A	DYNC2H1_ENST00000398093.3_Silent_p.A3870A|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	45	4	0	81	3863	AAA 6 (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			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAGCTCATGCTCTCTTCAGTC	0.363000													1	1	1	1	1	1	1.000000	46	4	0	88	1	8.185776e-01	2	0	0	88	5
PDZD3	79849	broad.mit.edu	37	11	119057301	119057301	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr11:119057301G>A	ENST00000531114.1	+	2	979	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	PDZD3_ENST00000392817.2_Missense_Mutation_p.V144M|PDZD3_ENST00000322712.4_Missense_Mutation_p.V78M|PDZD3_ENST00000355547.5_Missense_Mutation_p.V78M|PDZD3_ENST00000525131.1_Missense_Mutation_p.V65M			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	45	1	0	64	144	PDZ 1.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGTGTGCAGGGTGGACCCAGG	0.597000													1	1	1	1	1	1	1.000000	45	1	0	65	0	0	0	0	0	65	5
CHD4	1108	broad.mit.edu	37	12	6700933	6700933	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr12:6700933C>T	ENST00000309577.6	-	21	3312	c.3149G>A	c.(3148-3150)gGg>gAg	p.G1050E	CHD4_ENST00000544484.1_Missense_Mutation_p.G1047E|CHD4_ENST00000357008.2_Missense_Mutation_p.G1050E|CHD4_ENST00000544040.1_Missense_Mutation_p.G1043E			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	65	3	0	76	1050					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						CAATAATTTCCCAGATGCTCT	0.443000													1	1	1	1	1	1	1.000000	66	3	0	80	1	1	34	0	0	80	5
KMT2D	8085	broad.mit.edu	37	12	49415614	49415614	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr12:49415614G>C	ENST00000301067.7	-	54	16562	c.16563C>G	c.(16561-16563)caC>caG	p.H5521Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	13	42	0	63																		AGGGGATCTTGTGCTGATCGT	0.512000													1	1	1	1	1	1	0.999720	13	53	0	77	1	8.643254e-01	7	10	0	77	5
ACACB	32	broad.mit.edu	37	12	109696795	109696795	+	Silent	SNP	A	A	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr12:109696795A>G	ENST00000338432.7	+	47	6497	c.6378A>G	c.(6376-6378)ggA>ggG	p.G2126G	ACACB_ENST00000543201.1_Silent_p.G792G|ACACB_ENST00000377848.3_Silent_p.G2126G|ACACB_ENST00000377854.5_Silent_p.G2056G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	44	188	0	206	2126	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			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGCAGGCAGGACAGGTGTGGT	0.577000											OREG0007682	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ACACB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1	0	1	1	1	1	1.000000	45	197	1	212	0	0	0	1	1	212	4
RB1	5925	broad.mit.edu	37	13	49033926	49033926	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr13:49033926T>G	ENST00000267163.4	+	20	2201	c.2063T>G	c.(2062-2064)cTg>cGg	p.L688R		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	34	1	0	39	688	Domain B.|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.0?(15)|p.?(11)|p.L688P(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		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)	CAGCACACCCTGCAGAATGAG	0.443000		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	1	1	1	1	1	1.000000	37	1	0	43	1	9.036585e-01	2	0	0	43	5
CAPN3	825	broad.mit.edu	37	15	42693949	42693949	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr15:42693949C>G	ENST00000397163.3	+	11	1684	c.1465C>G	c.(1465-1467)Cgg>Ggg	p.R489G	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.R489G|CAPN3_ENST00000349748.3_Missense_Mutation_p.R441G|CAPN3_ENST00000318023.7_Missense_Mutation_p.R489G|CAPN3_ENST00000356316.3_Missense_Mutation_p.R402G	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	10	39	0	43	489	Domain III.		R -> Q (in LGMD2A).|R -> W (in LGMD2A).		muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		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)		GCAGAAGAACCGGCGGAAGGA	0.572000													1	1	1	1	0	1	0.998946	11	41	0	46	0	5.252525e-02	0	2	0	46	4
UACA	55075	broad.mit.edu	37	15	70959158	70959158	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr15:70959158G>C	ENST00000322954.6	-	16	4050	c.3865C>G	c.(3865-3867)Cag>Gag	p.Q1289E	UACA_ENST00000379983.2_Missense_Mutation_p.Q1276E|UACA_ENST00000539319.1_Missense_Mutation_p.Q1180E|UACA_ENST00000560441.1_Missense_Mutation_p.Q1274E	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	7	50	0	64	1289						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CGTTCCTTCTGATCCTTAATT	0.348000													1	0	1	1	1	1	0.982949	7	50	0	65	1	9.817967e-01	3	53	0	65	4
KIAA0895L	653319	broad.mit.edu	37	16	67214278	67214278	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr16:67214278C>T	ENST00000290881.7	-	3	1162	c.236G>A	c.(235-237)cGc>cAc	p.R79H	KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R79H|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R79H|KIAA0895L_ENST00000563831.2_Intron			Q68EN5	K895L_HUMAN	KIAA0895-like	7	6	0	23	79										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GCTCTCACTGCGACGCATGTG	0.692000													1	1	1	1	1	1	0.991243	7	6	0	24	1	9.878261e-01	4	8	0	24	5
CNTNAP4	85445	broad.mit.edu	37	16	76555943	76555943	+	Silent	SNP	A	A	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr16:76555943A>T	ENST00000307431.8	+	18	2926	c.2541A>T	c.(2539-2541)acA>acT	p.T847T	CNTNAP4_ENST00000478060.1_Silent_p.T775T|CNTNAP4_ENST00000476707.1_Silent_p.T851T|CNTNAP4_ENST00000377504.4_Silent_p.T799T|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	47	103	0	197	848	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGCTCCGACAGTAGTGACTT	0.453000													1	1	1	1	1	1	1.000000	50	109	0	217	0	0	0	0	0	217	5
USP10	9100	broad.mit.edu	37	16	84792334	84792334	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr16:84792334A>G	ENST00000219473.7	+	5	1318	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S	USP10_ENST00000570191.1_Missense_Mutation_p.N406S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	24	52	0	77	402					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			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TTGCTGGAGAATGTAACCCTA	0.438000													1	1	1	1	0	1	1.000000	24	53	0	87	0	9.901402e-01	1	19	0	87	4
TP53	7157	broad.mit.edu	37	17	7578502	7578502	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:7578502A>C	ENST00000420246.2	-	5	560	c.428T>G	c.(427-429)gTg>gGg	p.V143G	TP53_ENST00000269305.4_Missense_Mutation_p.V143G|TP53_ENST00000413465.2_Missense_Mutation_p.V143G|TP53_ENST00000455263.2_Missense_Mutation_p.V143G|TP53_ENST00000359597.4_Missense_Mutation_p.V143G|TP53_ENST00000445888.2_Missense_Mutation_p.V143G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	36	1	0	55	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		CCACAGCTGCACAGGGCAGGT	0.587000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	37	1	0	59	1	1	47	1	0	59	5
SARM1	23098	broad.mit.edu	37	17	26715423	26715423	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:26715423G>C	ENST00000457710.3	+	7	2157	c.1686G>C	c.(1684-1686)gaG>gaC	p.E562D	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	30	43	0	85	596	TIR.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TTGATGTGGAGAAGCTGGAAG	0.547000													1	1	1	1	1	1	1.000000	30	44	0	86	0	3.651086e-01	1	2	0	86	5
SLC25A39	51629	broad.mit.edu	37	17	42398463	42398463	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:42398463G>A	ENST00000225308.8	-	8	804	c.630C>T	c.(628-630)ggC>ggT	p.G210G	SLC25A39_ENST00000537904.2_Silent_p.G195G|SLC25A39_ENST00000590194.1_Silent_p.G210G|SLC25A39_ENST00000377095.5_Silent_p.G218G|SLC25A39_ENST00000586016.1_Silent_p.G86G	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	10	36	0	25	218					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGGGCCCCAGCCCAGCCACA	0.637000													1	0	1	1	1	1	0.998957	11	40	0	26	1	1	98	378	0	26	4
FZD2	2535	broad.mit.edu	37	17	42636744	42636744	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:42636744C>T	ENST00000315323.3	+	1	1820	c.1688C>T	c.(1687-1689)aCc>aTc	p.T563I		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	19	12	0	25	563					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			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CACGGTGAGACCACCGTGTGA	0.597000													1	0	1	1	0	1	1.000000	19	13	0	26	1	1	144	154	0	26	3
BZRAP1	9256	broad.mit.edu	37	17	56386693	56386693	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:56386693C>T	ENST00000355701.3	-	22	4810	c.3940G>A	c.(3940-3942)Gag>Aag	p.E1314K	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1254K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1314K	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	42	47	0	75	1314						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGATCTGCTCCAAGATCTCC	0.577000													1	1	1	1	1	1	1.000000	49	54	0	85	1	8.597554e-01	3	3	0	85	5
DNAH17	8632	broad.mit.edu	37	17	76490708	76490708	+	Silent	SNP	G	G	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr17:76490708G>A	ENST00000389840.5	-	40	6319	c.6195C>T	c.(6193-6195)gaC>gaT	p.D2065D	DNAH17_ENST00000585328.1_Silent_p.D2074D|RP11-559N14.5_ENST00000591373.1_RNA					dynein, axonemal, heavy chain 17	30	130	0	137											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCGAGGCACGTCCAGAGCCG	0.587000													1	1	1	1	1	1	1.000000	35	141	0	148	0	0	0	0	0	148	5
ZNF676	163223	broad.mit.edu	37	19	22363519	22363519	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr19:22363519C>G	ENST00000397121.2	-	3	1317	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	32	34	0	103	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAGGGTTTCTCTCCAGCATGA	0.408000													1	1	1	1	1	1	1.000000	33	34	0	95	0	0	0	0	0	95	5
FFAR2	2867	broad.mit.edu	37	19	35941555	35941555	+	Silent	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr19:35941555C>T	ENST00000599180.1	+	2	1019	c.939C>T	c.(937-939)gaC>gaT	p.D313D	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Silent_p.D313D			O15552	FFAR2_HUMAN	free fatty acid receptor 2	16	59	0	71	313						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	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)			CAAATGAGGACAGGGGTGTGG	0.587000													1	1	1	1	1	1	0.999984	17	59	0	71	0	0	0	0	0	71	5
KLK3	354	broad.mit.edu	37	19	51361863	51361863	+	Silent	SNP	C	C	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr19:51361863C>G	ENST00000593997.1	+	4	663	c.642C>G	c.(640-642)ccC>ccG	p.P214P	KLK3_ENST00000595952.1_Intron|KLK3_ENST00000360617.3_Intron|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000326003.2_Intron			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	21	73	0	83	0	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TGAGTCATCCCTACTCCCAAG	0.572000													1	0	0	1	0	1	0.999999	21	75	0	86	0	0	0	0	0	86	2
MX2	4600	broad.mit.edu	37	21	42775253	42775253	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr21:42775253C>G	ENST00000330714.3	+	12	1817	c.1633C>G	c.(1633-1635)Ctt>Gtt	p.L545V		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	33	28	0	42	545					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				ATTTTTCAACCTTAACCAAAC	0.393000													1	1	1	1	1	1	1.000000	35	28	0	50	1	7.571419e-01	3	1	0	50	5
BCL2L13	23786	broad.mit.edu	37	22	18185097	18185097	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr22:18185097G>C	ENST00000317582.5	+	6	892	c.545G>C	c.(544-546)gGc>gCc	p.G182A	BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000337612.5_Missense_Mutation_p.G20A|BCL2L13_ENST00000543133.1_Missense_Mutation_p.G20A|BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000493680.1_Missense_Mutation_p.G182A|BCL2L13_ENST00000399782.1_Missense_Mutation_p.G182A|BCL2L13_ENST00000538149.1_Missense_Mutation_p.G58A	NM_015367.2	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	37	47	0	52	182					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CTGCAGTTTGGCGTGACATAC	0.403000													1	1	1	1	1	1	1.000000	37	51	0	55	1	9.999960e-01	17	17	0	55	5
ALG12	79087	broad.mit.edu	37	22	50297568	50297568	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr22:50297568A>C	ENST00000330817.5	-	10	1658	c.1385T>G	c.(1384-1386)cTg>cGg	p.L462R		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	11	48	0	75	462					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		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)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GGTCAGGTTCAGACTCACACC	0.657000													1	0	1	1	1	1	0.981031	12	52	1	87	0	9.255901e-01	2	29	1	87	4
USP51	158880	broad.mit.edu	37	X	55515333	55515333	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrX:55515333C>T	ENST00000500968.3	-	2	122	c.40G>A	c.(40-42)Ggg>Agg	p.G14R		NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	8	16	0	24	14					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CAGCGGACCCCAGAGCCGGAG	0.627000													1	1	1	1	0	1	0.993636	8	16	0	25	1	2.838828e-01	3	0	0	25	4
FRMPD3	84443	broad.mit.edu	37	X	106796138	106796138	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrX:106796138C>A	ENST00000276185.4	+	8	723	c.723C>A	c.(721-723)gaC>gaA	p.D241E	FRMPD3_ENST00000477796.1_3'UTR			Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	11	14	0	26	241	FERM.					cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TTCTTCAGGACAAGCAACCCC	0.463000													1	1	1	1	1	1	0.999759	12	15	0	27	0	0	0	0	0	27	5
GRIA3	2892	broad.mit.edu	37	X	122387246	122387246	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrX:122387246C>A	ENST00000264357.5	+	3	653	c.361C>A	c.(361-363)Cac>Aac	p.H121N	GRIA3_ENST00000542149.1_Missense_Mutation_p.H121N|GRIA3_ENST00000541091.1_Missense_Mutation_p.H105N|GRIA3_ENST00000371251.1_Missense_Mutation_p.H121N|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000371256.5_Missense_Mutation_p.H121N	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	27	89	0	120	121					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	p.H121N(2)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGGGGCCCTGCACACATCCTT	0.537000													1	1	1	1	1	1	1.000000	31	91	0	124	0	0	0	0	0	124	5
USP26	83844	broad.mit.edu	37	X	132161820	132161820	+	Silent	SNP	A	A	T			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chrX:132161820A>T	ENST00000511190.1	-	6	898	c.429T>A	c.(427-429)tcT>tcA	p.S143S	USP26_ENST00000370832.1_Silent_p.S143S|USP26_ENST00000406273.1_Silent_p.S143S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	12	28	0	51	143					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTATCTCAAAAGATTTGCTAC	0.408000													1	1	1	1	1	1	0.999594	12	28	0	54	0	0	0	0	0	54	5
C1orf43	25912	broad.mit.edu	37	1	154179938	154179939	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08			AC	-	AC	AC		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr1:154179938_154179939delAC	ENST00000368521.5	-	7	950_951	c.752_753delGT	c.(751-753)afs	p.S251fs	C1orf43_ENST00000362076.4_Frame_Shift_Del_p.S199fs|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000350592.3_Frame_Shift_Del_p.S217fs|C1orf43_ENST00000368519.1_Frame_Shift_Del_p.S233fs	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	9	145	0	125	251						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GTCACAGAGTACTCTCCAATGT	0.510000													0	0	1	0	0	1	0.994620	9	157	0	129	1	9.999938e-01	14	492	0	129	1
DPP4	1803	broad.mit.edu	37	2	162865080	162865089	+	Frame_Shift_Del	DEL	TCCCACCGGG	TCCCACCGGG	-	rs138430103	by1000genomes	TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr2:162865080_162865089delTCCCACCGGG	ENST00000360534.3	-	22	2530_2539	c.1970_1979delCCCGGTGGGA	c.(1969-1980)tgfs	p.SRWE657fs	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	22	20	0	92	657					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			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ACCATAGTACTCCCACCGGGATACAGGCGC	0.471000													1	1	1	1	0	1	1.000000	24	51	0	92	0	2.506987e-01	0	3	0	92	4
MED12L	116931	broad.mit.edu	37	3	150877759	150877760	+	Frame_Shift_Ins	INS	-	-	TCGAGTA			TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr3:150877759_150877760insTCGAGTA	ENST00000474524.1	+	7	1016_1017	c.978_979insTCGAGTA	c.(976-981)aacgagfs	p.E327fs	MED12L_ENST00000309237.4_Frame_Shift_Ins_p.E327fs|MED12L_ENST00000422248.2_Frame_Shift_Ins_p.E327fs|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	4	193	0	213	327					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GACCAAACAACTCGAGTATCGG	0.609000													1	0	1	1	0	1	0.891202	4	202	0	219	0	1.163514e-13	0	1	0	219	3
CHD6	0	broad.mit.edu	37	20	40113160	40113161	+	Frame_Shift_Del	DEL	TC	TC	-	rs146144596		TCGA-N5-A4RV-01A-21D-A28R-08	TCGA-N5-A4RV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058c10d9-88b8-4ac5-90a8-181dbad8b90c	17a3c4cd-4c9a-4b11-afae-e185e2f154f8	g.chr20:40113160_40113161delTC	ENST00000373233.3	-	15	2265_2266	c.2088_2089delGA	c.(2086-2091)gacgfs	p.ET696fs	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	64	61	0	132	696					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCAATGATCGTCTCTTGTTTGG	0.455000													1	1	1	1	0	1	1.000000	64	126	0	134	0	8.077413e-01	1	7	0	134	4
TNFRSF14	8764	broad.mit.edu	37	1	2492102	2492102	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:2492102C>T	ENST00000355716.4	+	5	799	c.500C>T	c.(499-501)cCg>cTg	p.P167L	TNFRSF14_ENST00000409119.1_Missense_Mutation_p.P167L	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	20	14	0	34	167					immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	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;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		AACTGCCCCCCGGGGACCTTC	0.672000			Mis, N, F		follicular lymphoma								1	1	1	1	1	1	1.000000	23	17	0	37	1	9.999963e-01	8	17	0	37	5
MMEL1	79258	broad.mit.edu	37	1	2537800	2537800	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:2537800C>G	ENST00000288709.6	-	8	850	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Missense_Mutation_p.E213Q	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	10	22	0	33	213					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	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)		AGCTCCCACTCGAGTCCTGGG	0.657000													1	1	1	1	1	1	0.999660	12	22	0	34	0	0	0	0	0	34	5
CAPZB	832	broad.mit.edu	37	1	19712043	19712043	+	Silent	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:19712043C>T	ENST00000264203.3	-	4	742	c.249G>A	c.(247-249)aaG>aaA	p.K83K	CAPZB_ENST00000264202.6_Silent_p.K57K|CAPZB_ENST00000375144.1_Silent_p.K45K|CAPZB_ENST00000433834.1_Silent_p.K86K|CAPZB_ENST00000401084.2_Silent_p.K57K|CAPZB_ENST00000375142.1_Silent_p.K57K|CAPZB_ENST00000482808.1_5'UTR			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	20	27	0	77	57					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		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)		AAAGGTAATCCTTTCCCACCA	0.547000													1	1	1	1	1	1	1.000000	23	28	0	81	1	1	78	101	0	81	5
CSMD2	114784	broad.mit.edu	37	1	33999485	33999485	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:33999485C>T	ENST00000373381.4	-	63	10078	c.9902G>A	c.(9901-9903)cGt>cAt	p.R3301H		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	17	11	0	32	3157						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTTTGACAACGGAAGAGGAC	0.562000													1	1	1	1	1	1	1.000000	19	12	0	34	0	0	0	0	0	34	5
PTPRF	5792	broad.mit.edu	37	1	44075093	44075093	+	Silent	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:44075093G>C	ENST00000359947.4	+	22	4237	c.3897G>C	c.(3895-3897)tcG>tcC	p.S1299S	PTPRF_ENST00000438120.1_Silent_p.S1290S|PTPRF_ENST00000372413.3_Silent_p.S1290S|PTPRF_ENST00000372414.3_Silent_p.S1299S|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.S647S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	5	32	0	41	1299					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATGAGCAGTCGATCGGACTGA	0.577000													1	0	1	1	1	1	0.941810	5	35	0	47	1	6.122423e-01	11	4	0	47	4
TRIM33	51592	broad.mit.edu	37	1	115006917	115006917	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:115006917C>G	ENST00000358465.2	-	2	703	c.620G>C	c.(619-621)aGc>aCc	p.S207T	TRIM33_ENST00000369543.2_Missense_Mutation_p.S207T	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	6	11	0	23	207					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			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	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)		ATCAGAACTGCTAGGAGCTTC	0.358000			T	RET	papillary thyroid								0	0	1	1	1	1	0.975154	6	11	0	23	0	0	0	0	0	23	3
CRTC2	200186	broad.mit.edu	37	1	153925843	153925843	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:153925843G>A	ENST00000368633.1	-	6	633	c.506C>T	c.(505-507)aCa>aTa	p.T169I	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'UTR	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	5	57	0	53	169					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	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)			GTCAGAGCTTGTCCTATGGGG	0.592000													0	0	1	0	0	1	0.940145	5	59	0	55	1	1.349030e-01	2	5	0	55	1
KCNT2	343450	broad.mit.edu	37	1	196397292	196397292	+	Silent	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:196397292C>T	ENST00000367433.5	-	10	1028	c.927G>A	c.(925-927)ctG>ctA	p.L309L	KCNT2_ENST00000367431.4_Silent_p.L309L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.L309L|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	4	35	0	55	309						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AATCAATCTTCAGTGAGCTGA	0.393000													0	0	1	1	1	1	0.893699	4	37	0	55	0	0	0	0	0	55	3
SLC8A1	6546	broad.mit.edu	37	2	40656143	40656143	+	Silent	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:40656143G>A	ENST00000406785.1	-	2	1467	c.1278C>T	c.(1276-1278)gcC>gcT	p.A426A	SLC8A1_ENST00000542756.1_Silent_p.A426A|SLC8A1_ENST00000542024.1_Silent_p.A426A|SLC8A1_ENST00000408028.2_Silent_p.A426A|SLC8A1_ENST00000405901.3_Silent_p.A426A|SLC8A1_ENST00000405269.1_Silent_p.A426A|SLC8A1_ENST00000403092.1_Silent_p.A426A|SLC8A1_ENST00000402441.1_Silent_p.A426A|SLC8A1_ENST00000332839.4_Silent_p.A426A|SLC8A1_ENST00000406391.2_Silent_p.A426A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	11	111	0	61	426	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.A426A(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TAATGGTAAGGGCCACAGTAC	0.438000													1	1	1	1	0	1	0.998570	11	120	0	66	0	0	0	0	0	66	4
RANBP2	5903	broad.mit.edu	37	2	109398713	109398713	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:109398713A>G	ENST00000283195.6	+	27	9016	c.8890A>G	c.(8890-8892)Aca>Gca	p.T2964A		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	20	26	1	56	2964	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(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCTTTGGCATACAATGAAGAA	0.373000													1	0	1	1	1	1	0.999995	24	31	1	58	1	9.999841e-01	29	21	1	58	4
CCDC115	84317	broad.mit.edu	37	2	131099731	131099731	+	Silent	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:131099731C>T	ENST00000437688.2	-	1	180	c.72G>A	c.(70-72)agG>agA	p.R24R	CCDC115_ENST00000409127.1_Silent_p.R24R|CCDC115_ENST00000259229.2_5'UTR			Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	5	8	0	27	0						endosome|lysosome				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					CCACCTTCTTCCTTGTCACCC	0.627000													0	0	1	1	1	1	0.952174	5	8	0	29	0	6.339009e-01	1	4	0	29	3
TRPM8	79054	broad.mit.edu	37	2	234847659	234847659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:234847659C>A	ENST00000324695.4	+	5	406	c.366C>A	c.(364-366)tgC>tgA	p.C122*	TRPM8_ENST00000409625.1_Nonsense_Mutation_p.C45*|TRPM8_ENST00000355722.4_Nonsense_Mutation_p.C72*|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	54	27	0	95	122						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		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)	GTCTGTCCTGCGACACGGACG	0.547000													1	1	1	1	1	1	1.000000	57	32	0	112	0	0	0	0	0	112	5
GRM7	2917	broad.mit.edu	37	3	7456839	7456839	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:7456839G>A	ENST00000486284.1	+	5	1437	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	GRM7_ENST00000403881.1_Missense_Mutation_p.R388H|GRM7_ENST00000402647.2_Missense_Mutation_p.R388H|GRM7_ENST00000357716.4_Missense_Mutation_p.R388H|GRM7_ENST00000389336.4_Missense_Mutation_p.R388H	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	19	21	0	53	388					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	p.R388P(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GACACAGATCGCAAATGCACA	0.423000													1	1	1	1	1	1	1.000000	22	24	0	61	0	0	0	0	0	61	5
DCP1A	55802	broad.mit.edu	37	3	53321609	53321609	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:53321609G>T	ENST00000607628.1	-	10	1853	c.1744C>A	c.(1744-1746)Cac>Aac	p.H582N	DCP1A_ENST00000294241.6_Missense_Mutation_p.H580N|DCP1A_ENST00000480258.1_5'UTR|DCP1A_ENST00000606822.1_Missense_Mutation_p.H544N	NM_018403.5	NP_060873.4	Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A	17	32	0	73	580					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			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				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)		CATAGGTTGTGGTTGTCTTTG	0.433000													1	1	1	1	1	1	0.999998	19	35	0	81	0	0	0	1	0	81	5
CCDC66	285331	broad.mit.edu	37	3	56647723	56647723	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:56647723G>T	ENST00000394672.3	+	11	1581	c.1511G>T	c.(1510-1512)cGt>cTt	p.R504L	CCDC66_ENST00000436465.2_Missense_Mutation_p.R504L|CCDC66_ENST00000326595.7_Missense_Mutation_p.R470L	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	39	41	0	135	504										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GCACAGGAACGTGAAGAGATG	0.398000													1	1	1	1	1	1	1.000000	40	47	0	145	1	7.528470e-01	3	2	0	145	5
GPR15	2838	broad.mit.edu	37	3	98251260	98251260	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:98251260G>A	ENST00000284311.3	+	1	518	c.383G>A	c.(382-384)aGt>aAt	p.S128N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	19	37	0	56	128						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ACTTGCATGAGTGTTGACCGC	0.522000													1	1	1	1	1	1	0.999999	20	38	0	59	0	0	0	0	0	59	5
ATP13A3	79572	broad.mit.edu	37	3	194181555	194181555	+	Silent	SNP	A	A	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr3:194181555A>G	ENST00000439040.1	-	4	848	c.57T>C	c.(55-57)atT>atC	p.I19I	ATP13A3_ENST00000256031.4_Silent_p.I19I			Q9H7F0	AT133_HUMAN	ATPase type 13A3	14	104	0	56	19					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	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)		TGTAACCATAAATCTCCTGCA	0.403000													1	1	1	1	1	1	0.999812	14	113	0	61	0	0	0	0	0	61	5
MTHFD2L	441024	broad.mit.edu	37	4	75065519	75065519	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr4:75065519G>C	ENST00000395759.2	+	4	487	c.460G>C	c.(460-462)Gat>Cat	p.D154H	MTHFD2L_ENST00000325278.6_Missense_Mutation_p.D96H|MTHFD2L_ENST00000331145.6_Missense_Mutation_p.D96H|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.D19H	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	17	39	0	33	96					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			AGACCACGTTGATGAGCGAAC	0.313000													1	1	1	1	1	1	0.999998	19	41	0	35	0	0	0	1	0	35	5
ARSJ	79642	broad.mit.edu	37	4	114899926	114899926	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr4:114899926C>A	ENST00000315366.7	-	1	931	c.65G>T	c.(64-66)gGa>gTa	p.G22V	ARSJ_ENST00000541197.1_Missense_Mutation_p.G22V|ARSJ_ENST00000503013.2_5'UTR	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	138	15	0	235	22						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TAGCATCTTTCCAGGACAGAC	0.607000													1	1	1	1	1	1	1.000000	155	16	0	264	0	0	0	0	0	264	5
MSMO1	6307	broad.mit.edu	37	4	166254533	166254533	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr4:166254533A>G	ENST00000261507.6	+	2	184	c.11A>G	c.(10-12)aAt>aGt	p.N4S	MSMO1_ENST00000393766.2_Intron|MSMO1_ENST00000504317.1_Missense_Mutation_p.N4S	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	8	36	0	39	4					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding									NADH(DB00157)	ATGGCAACAAATGAAAGTGTC	0.328000													1	1	0	1	1	1	0.991552	8	39	0	43	1	3.673469e-02	2	0	0	43	4
SDHA	6389	broad.mit.edu	37	5	240531	240531	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr5:240531C>G	ENST00000264932.6	+	11	1606	c.1491C>G	c.(1489-1491)gaC>gaG	p.D497E	SDHA_ENST00000504309.1_Missense_Mutation_p.D497E|SDHA_ENST00000510361.1_Missense_Mutation_p.D449E	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	4	73	0	53	497					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			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGAATCTTGACAAATTGAGAT	0.428000									Familial Paragangliomas				1	0	1	1	1	1	0.939550	5	77	0	56	1	9.185322e-01	21	52	0	56	4
HIST1H2AB	8335	broad.mit.edu	37	6	26033563	26033563	+	Silent	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:26033563G>A	ENST00000259791.2	-	1	233	c.234C>T	c.(232-234)cgC>cgT	p.R78R		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	34	106	0	122	78					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGGGATGATGCGGGTCTTCT	0.622000													1	1	1	1	1	1	1.000000	35	111	0	134	0	1.506040e-01	0	3	0	134	5
PKHD1	5314	broad.mit.edu	37	6	51889956	51889956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr6:51889956G>T	ENST00000371117.3	-	32	4927	c.4652C>A	c.(4651-4653)tCa>tAa	p.S1551*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S1551*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	10	51	0	55	1551	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			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATAAAAAACTGACAGGTAGTG	0.403000													1	1	1	1	1	1	0.997668	10	53	0	56	0	0	0	0	0	56	5
TNKS	8658	broad.mit.edu	37	8	9588536	9588536	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr8:9588536A>C	ENST00000310430.6	+	14	2164	c.2138A>C	c.(2137-2139)aAa>aCa	p.K713T	TNKS_ENST00000518281.1_Missense_Mutation_p.K476T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	7	31	0	43	713					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			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GTCCATGCCAAAGACAAGGGG	0.438000													1	1	1	1	1	1	0.984007	7	33	0	48	0	0	0	0	0	48	5
POLR3D	661	broad.mit.edu	37	8	22106726	22106726	+	Silent	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr8:22106726C>G	ENST00000397802.4	+	6	1040	c.825C>G	c.(823-825)ctC>ctG	p.L275L	POLR3D_ENST00000306433.4_Silent_p.L275L			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	9	49	0	86	275					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	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CAGACACCCTCCCTGGCCAGC	0.597000													1	1	1	1	1	1	0.995435	9	51	0	94	1	6.195060e-01	2	11	0	94	5
PXDNL	137902	broad.mit.edu	37	8	52320720	52320720	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr8:52320720T>A	ENST00000356297.4	-	17	3564	c.3464A>T	c.(3463-3465)gAc>gTc	p.D1155V	PXDNL_ENST00000543296.1_Missense_Mutation_p.D1155V	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	24	85	0	89	1155					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AACTCTGAAGTCAACATATGG	0.433000													1	0	1	1	1	1	1.000000	25	93	0	96	0	0	0	1	0	96	4
AGAP5	729092	broad.mit.edu	37	10	75457378	75457378	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr10:75457378C>T	ENST00000443782.2	-	1	261	c.136G>A	c.(136-138)Gct>Act	p.A46T	RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Missense_Mutation_p.A46T			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	29	119	1	174	46					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						ACAGCAGCAGCCATGGGCGCT	0.582000													1	0	1	1	0	1	1.000000	31	131	1	182	0	0	0	0	1	182	3
TTC40	54777	broad.mit.edu	37	10	134628401	134628401	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr10:134628401C>G	ENST00000368586.5	-	51	7235	c.7135G>C	c.(7135-7137)Gag>Cag	p.E2379Q	TTC40_ENST00000263170.5_Missense_Mutation_p.E540Q	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	7	129	0	167	540										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTTCTTCCCTCCTTTTTCACG	0.577000													1	1	1	1	0	1	0.989968	8	146	0	194	0	0	0	0	0	194	4
KRTAP5-5	439915	broad.mit.edu	37	11	1651251	1651251	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:1651251G>A	ENST00000399676.2	+	1	219	c.181G>A	c.(181-183)Ggc>Agc	p.G61S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	92	34	0	203	61						keratin filament		p.G61S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		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)		atgtggctccggctgCTGTGT	0.682000													1	1	1	1	0	1	1.000000	100	36	0	228	0	0	0	0	0	228	4
PRDM11	56981	broad.mit.edu	37	11	45203391	45203391	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:45203391C>G	ENST00000263765.4	+	3	425	c.176C>G	c.(175-177)aCg>aGg	p.T59R	PRDM11_ENST00000530656.1_Missense_Mutation_p.T59R|PRDM11_ENST00000424263.2_Missense_Mutation_p.T25R			Q9NQV5	PRD11_HUMAN	PR domain containing 11	33	7	0	47	59				KTEVCSPLRD -> NPS (in Ref. 1; AAF87244).						endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GTGGTGAAGACGGAGGTCTGC	0.622000													1	1	1	1	1	1	1.000000	34	7	0	49	0	0	1	0	0	49	5
OR4C12	283093	broad.mit.edu	37	11	50003362	50003362	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:50003362T>G	ENST00000335238.4	-	1	709	c.676A>C	c.(676-678)Aat>Cat	p.N226H		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	7	42	0	48	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCCAAGCTATTGTTCTTTAAA	0.408000													1	1	1	1	1	1	0.983355	7	42	0	52	0	0	0	0	0	52	5
ZBTB3	79842	broad.mit.edu	37	11	62520200	62520200	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:62520200C>G	ENST00000394807.3	-	2	1212	c.1087G>C	c.(1087-1089)Gat>Cat	p.D363H		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	27	35	0	81	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GTCTCTTCATCAGAGATCACA	0.577000													1	1	1	1	1	1	1.000000	28	40	0	87	0	0	0	0	0	87	5
ANO2	57101	broad.mit.edu	37	12	5708651	5708651	+	Splice_Site	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:5708651C>G	ENST00000327087.8	-	21	2303	c.2233_splice	c.e21+1	p.M744_splice	ANO2_ENST00000546188.1_Splice_Site_p.M745_splice|ANO2_ENST00000356134.5_Splice_Site_p.M745_splice			Q9NQ90	ANO2_HUMAN	anoctamin 2	18	204	0	112	749						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGTTCTCACTCATTTCCATGT	0.542000													1	1	1	1	0	1	0.999992	19	235	0	131	0	3.409274e-02	0	4	0	131	4
GPRC5A	0	broad.mit.edu	37	12	13061636	13061636	+	Silent	SNP	A	A	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:13061636A>G	ENST00000014914.5	+	2	1343	c.453A>G	c.(451-453)gaA>gaG	p.E151E	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	204	131	0	171	151						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TCGCTATTGAATATATTGTCC	0.527000													1	1	1	1	1	1	1.000000	212	136	0	176	1	9.178904e-01	4	1	0	176	5
IPO8	10526	broad.mit.edu	37	12	30834617	30834617	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:30834617A>T	ENST00000256079.4	-	4	796	c.458T>A	c.(457-459)cTg>cAg	p.L153Q		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	14	86	0	42	153					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	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)					CAGTTGATACAGGCATAATAA	0.423000													1	1	1	1	1	1	0.999911	15	97	0	48	0	0	0	0	0	48	5
ABCD2	225	broad.mit.edu	37	12	40012651	40012651	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:40012651G>T	ENST00000308666.3	-	1	902	c.767C>A	c.(766-768)cCc>cAc	p.P256H		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	55	51	0	74	256	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			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TAGTAGGGTGGGCCCAATTGG	0.448000													1	1	1	1	1	1	1.000000	58	54	0	79	0	0	0	0	0	79	5
ERBB3	2065	broad.mit.edu	37	12	56490829	56490829	+	Splice_Site	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:56490829C>T	ENST00000267101.3	+	20	2715	c.2274_splice	c.e20-1	p.H759_splice	ERBB3_ENST00000450146.2_Splice_Site_p.H116_splice|ERBB3_ENST00000415288.2_Splice_Site_p.H700_splice|ERBB3_ENST00000553131.1_5'UTR	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	35	39	0	59	759	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			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGTCTCTTAGCATATGCTGGC	0.527000													1	1	1	1	1	1	1.000000	39	43	0	63	1	6.470790e-01	3	1	0	63	5
LIN7A	8825	broad.mit.edu	37	12	81239693	81239693	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:81239693C>A	ENST00000552864.1	-	4	501	c.299G>T	c.(298-300)aGt>aTt	p.S100I		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	18	0	0	35	100					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GTGGCCTTCACTAGCTGCAAA	0.408000													1	1	1	1	1	1	1.000000	18	0	0	36	1	9.999971e-01	9	0	0	36	5
KDM2B	84678	broad.mit.edu	37	12	121947777	121947777	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:121947777C>T	ENST00000377069.4	-	11	1553	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T	KDM2B_ENST00000536437.1_Missense_Mutation_p.A297T|KDM2B_ENST00000538046.2_Missense_Mutation_p.A324T|KDM2B_ENST00000377071.4_Missense_Mutation_p.A414T	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	27	4	0	56	414					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			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TGATCACAGGCCTCCTCCTCC	0.627000													1	1	1	1	1	1	1.000000	30	4	0	63	0	0	0	0	0	63	5
TMTC4	84899	broad.mit.edu	37	13	101266664	101266664	+	Silent	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr13:101266664G>A	ENST00000342624.5	-	16	2115	c.1857C>T	c.(1855-1857)caC>caT	p.H619H	TMTC4_ENST00000376234.3_Silent_p.H600H|TMTC4_ENST00000328767.5_Silent_p.H489H	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	10	93	0	57	600						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGGCATCCACGTGGCGATTGA	0.413000													0	0	1	0	0	1	0.997305	10	104	0	61	1	2.812935e-01	4	7	0	61	1
MCF2L	23263	broad.mit.edu	37	13	113748841	113748841	+	Silent	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr13:113748841G>T	ENST00000397030.1	+	27	3103	c.3066G>T	c.(3064-3066)acG>acT	p.T1022T	MCF2L_ENST00000423482.2_Silent_p.T987T|MCF2L_ENST00000535094.2_Silent_p.T989T|MCF2L_ENST00000375608.3_Silent_p.T1019T|MCF2L_ENST00000421756.1_Silent_p.T993T|MCF2L_ENST00000442652.2_Silent_p.T1019T|MCF2L_ENST00000375604.2_Silent_p.T1046T|MCF2L_ENST00000434480.2_Silent_p.T995T|MCF2L_ENST00000375601.3_Silent_p.T993T			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	5	39	0	25	1019					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			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	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)				GGAGCAAAACGTCCCACTCAC	0.622000													1	0	1	1	1	1	0.940914	5	45	0	26	0	8.226956e-01	1	30	0	26	4
CYP1A2	1544	broad.mit.edu	37	15	75042815	75042815	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr15:75042815C>T	ENST00000343932.4	+	2	799	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	33	116	0	134	246					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			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					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)	TCGCTACCTGCCTAACCCTGC	0.552000													1	1	1	1	1	1	1.000000	34	121	0	143	0	0	0	1	0	143	5
ITGAD	3681	broad.mit.edu	37	16	31434762	31434762	+	Silent	SNP	C	C	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr16:31434762C>A	ENST00000389202.2	+	25	2998	c.2949C>A	c.(2947-2949)gtC>gtA	p.V983V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	106	43	0	69	983				V -> A (in Ref. 3; AAB60638).	cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGATGTGGTCATGGAGGCCC	0.542000													1	1	1	1	1	1	1.000000	111	48	0	70	0	0	0	0	0	70	5
NUP93	9688	broad.mit.edu	37	16	56792513	56792513	+	Silent	SNP	G	G	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr16:56792513G>T	ENST00000569842.1	+	3	339	c.243G>T	c.(241-243)ctG>ctT	p.L81L	NUP93_ENST00000308159.5_Silent_p.L81L			Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	11	38	0	53	81					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGGAGAGTCTGAGTGCAGCCA	0.517000													1	1	1	1	1	1	0.998925	11	43	0	57	0	2.945756e-01	1	4	0	57	5
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	G	rs121912666		TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr17:7578190T>G	ENST00000420246.2	-	6	791	c.659A>C	c.(658-660)tAt>tCt	p.Y220S	TP53_ENST00000445888.2_Missense_Mutation_p.Y220S|TP53_ENST00000455263.2_Missense_Mutation_p.Y220S|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220S|TP53_ENST00000413465.2_Missense_Mutation_p.Y220S|TP53_ENST00000359597.4_Missense_Mutation_p.Y220S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	29	4	0	40	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.557000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	32	4	0	43	1	9.971364e-01	5	0	0	43	5
AZI1	22994	broad.mit.edu	37	17	79180597	79180597	+	Silent	SNP	C	C	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr17:79180597C>T	ENST00000269392.4	-	5	709	c.462G>A	c.(460-462)ccG>ccA	p.P154P	AZI1_ENST00000575907.1_Silent_p.P154P|AZI1_ENST00000450824.2_Silent_p.P154P|AZI1_ENST00000374782.3_Silent_p.P154P	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	9	72	0	102	154					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTTTCCTCCGCGGGCCCGCTG	0.632000													1	1	1	1	1	1	0.997427	10	80	0	105	0	2.941589e-01	1	8	0	105	5
NARF	26502	broad.mit.edu	37	17	80445875	80445875	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr17:80445875G>A	ENST00000390006.4	+	11	1510	c.1036G>A	c.(1036-1038)Gct>Act	p.A346T	NARF_ENST00000309794.10_Missense_Mutation_p.A405T|NARF_ENST00000345415.7_Missense_Mutation_p.A357T|NARF_ENST00000457415.3_Missense_Mutation_p.A451T	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	10	51	0	79	405						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGGCATTTACGCTGACATCCC	0.592000													1	1	1	1	1	1	0.997621	10	57	0	81	1	1	45	379	0	81	5
PIK3C3	5289	broad.mit.edu	37	18	39573236	39573236	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr18:39573236C>G	ENST00000262039.4	+	7	803	c.717C>G	c.(715-717)gaC>gaG	p.D239E	PIK3C3_ENST00000398870.3_Missense_Mutation_p.D176E	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	6	31	0	45	239					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			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TAATCTAGGACGGTGATGAAT	0.284000										TSP Lung(28;0.18)			1	1	1	1	1	1	0.984098	7	32	0	47	0	4.181185e-02	1	1	0	47	5
MYBPC2	4606	broad.mit.edu	37	19	50964799	50964799	+	Splice_Site	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:50964799G>A	ENST00000357701.5	+	25	2983	c.2931_splice	c.e25-1	p.E978_splice		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	3	14	0	32	978	Fibronectin type-III 3.				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)		CCCACACTAGGAGTGGTTCAA	0.512000											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	1	0	0	1	0.813118	3	17	0	37	1	3.031215e-01	2	4	0	37	1
KLK2	3817	broad.mit.edu	37	19	51381707	51381707	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:51381707C>G	ENST00000325321.3	+	5	903	c.678C>G	c.(676-678)atC>atG	p.I226M	KLK2_ENST00000391810.2_Missense_Mutation_p.I124M|KLK2_ENST00000358049.4_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	54	103	0	172	226	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TTCAAGGTATCACATCATGGG	0.532000			T	ETV4	prostate								1	1	1	1	1	1	1.000000	56	110	0	175	0	0	0	0	0	175	5
FPR2	2358	broad.mit.edu	37	19	52272749	52272749	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:52272749A>T	ENST00000598776.1	+	2	1610	c.838A>T	c.(838-840)Att>Ttt	p.I280F	FPR2_ENST00000598953.1_Missense_Mutation_p.I280F|FPR2_ENST00000340023.6_Missense_Mutation_p.I280F	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	13	45	0	81	280					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTACAAAATCATTGACATCCT	0.498000													1	0	1	1	1	1	0.993825	14	47	1	88	0	0	0	0	1	88	4
PPP2R1A	5518	broad.mit.edu	37	19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr19:52715971C>G	ENST00000322088.6	+	5	594	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	13	38	0	91	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen 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	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	0.999985	17	54	0	92	1	9.999997e-01	42	63	0	92	5
SSTR4	6754	broad.mit.edu	37	20	23016960	23016960	+	Silent	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:23016960G>C	ENST00000255008.3	+	1	904	c.840G>C	c.(838-840)ctG>ctC	p.L280L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	20	128	0	98	280					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGGTGCAGCTGCTGAACCTCT	0.572000													1	1	1	1	1	1	0.999997	20	137	0	101	0	0	0	0	0	101	5
SNTA1	6640	broad.mit.edu	37	20	31996508	31996508	+	Splice_Site	SNP	A	A	T			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:31996508A>T	ENST00000217381.2	-	7	1695	c.1425_splice	c.e7+1	p.I475_splice		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	6	226	0	124	475	SU.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CTCACTCACGATCTCGCCTTC	0.622000													0	0	1	0	0	1	0.965478	6	254	0	134	1	8.171919e-01	8	125	0	134	1
SAMHD1	25939	broad.mit.edu	37	20	35545400	35545400	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr20:35545400G>C	ENST00000262878.4	-	8	1104	c.905C>G	c.(904-906)tCt>tGt	p.S302C	SAMHD1_ENST00000373694.5_Missense_Mutation_p.S87C	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	18	25	0	21	302	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	p.S302Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TCTTTTATTAGATACTATCTC	0.363000													1	1	1	1	1	1	0.999997	18	26	0	25	1	6.740518e-01	2	3	0	25	5
LIMK2	3985	broad.mit.edu	37	22	31658195	31658195	+	Silent	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr22:31658195G>A	ENST00000331728.4	+	6	741	c.627G>A	c.(625-627)ggG>ggA	p.G209G	LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Silent_p.G188G|LIMK2_ENST00000406516.1_Silent_p.G131G|LIMK2_ENST00000340552.4_Silent_p.G188G	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	27	91	0	124	209	PDZ.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGATCAATGGGACCCCCGTCC	0.557000													1	1	1	1	1	1	1.000000	29	99	0	131	0	1.373512e-01	0	3	0	131	5
BPIFC	254240	broad.mit.edu	37	22	32843231	32843231	+	Translation_Start_Site	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr22:32843231G>C	ENST00000534972.1	-	0	467				BPIFC_ENST00000432451.2_De_novo_Start_OutOfFrame|BPIFC_ENST00000300399.3_Missense_Mutation_p.I114M|BPIFC_ENST00000397452.1_Missense_Mutation_p.I114M			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	7	81	0	61							extracellular region	lipopolysaccharide binding|phospholipid binding										AGTCTGTGCTGATGTTGGCAG	0.443000													1	0	1	1	0	1	0.982037	7	83	0	67	0	0	0	0	0	67	3
MAGIX	79917	broad.mit.edu	37	X	49022525	49022525	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrX:49022525G>C	ENST00000376338.3	+	4	694	c.615G>C	c.(613-615)aaG>aaC	p.K205N	MAGIX_ENST00000425661.2_Missense_Mutation_p.K188N|MAGIX_ENST00000412696.2_Missense_Mutation_p.K264N|MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.K200N			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	3	26	0	37	264	PDZ.																CGCTCAAGAAGACCCGGGGCA	0.677000													0	0	0	1	0	1	0.894511	4	29	0	38	1	7.324513e-01	4	16	0	38	1
ZXDB	158586	broad.mit.edu	37	X	57619818	57619818	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrX:57619818G>A	ENST00000374888.1	+	1	1550	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	18	47	0	88	446	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ATTCACCTGCGGAGTCACACC	0.488000													1	1	1	1	0	1	0.999994	18	49	0	86	0	0	0	0	0	86	4
RLIM	51132	broad.mit.edu	37	X	73811853	73811853	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chrX:73811853A>C	ENST00000332687.6	-	4	1515	c.1297T>G	c.(1297-1299)Tca>Gca	p.S433A	RLIM_ENST00000349225.2_Missense_Mutation_p.S433A	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	28	12	0	98	433	Ser-rich.				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			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCGATTTGAGACTGAGCCA	0.458000													1	1	1	1	1	1	1.000000	30	14	0	109	0	0	1	0	0	109	5
SLAMF6	114836	broad.mit.edu	37	1	160466086	160466088	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:160466086_160466088delCTT	ENST00000368059.3	-	2	214_216	c.145_147delAAG	c.(145-147)del	p.K49del	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_In_Frame_Del_p.K49del	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	94	184	0	220	49						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TGAAGTTGACCTTCTCTCCTGCA	0.458000													1	1	1	1	0	1	1.000000	94	281	0	219							4
CTSE	1510	broad.mit.edu	37	1	206318413	206318414	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:206318413_206318414insGA	ENST00000361052.3	+	2	289_290	c.171_172insGA	c.(169-174)acagtcfs	p.V58fs	CTSE_ENST00000358184.2_Frame_Shift_Ins_p.V58fs|CTSE_ENST00000360218.2_Frame_Shift_Ins_p.V58fs|CTSE_ENST00000432969.2_Intron			P14091	CATE_HUMAN	cathepsin E	35	74	0	66	58					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TCCAGTTCACCGAGTCCTGCTC	0.584000													1	1	1	1	0	1	1.000000	35	111	0	66	0	4.263256e-14	0	1	0	66	4
SUSD4	55061	broad.mit.edu	37	1	223396671	223396671	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr1:223396671delG	ENST00000343846.3	-	7	1997	c.1364delC	c.(1363-1365)ctfs	p.P455fs	SUSD4_ENST00000366878.4_Frame_Shift_Del_p.P455fs|SUSD4_ENST00000454695.2_Frame_Shift_Del_p.P295fs|SUSD4_ENST00000478605.1_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	13	113	0	79	455						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GTCCGAAGCAGGGTGGGTGCT	0.587000													1	0	1	0	0	1	0.999618	13	128	0	79	0	1.478698e-01	0	7	0	79	2
TANC1	85461	broad.mit.edu	37	2	160031574	160031598	+	Frame_Shift_Del	DEL	CAGAGACCTTCTGATAAAGGAGCCC	CAGAGACCTTCTGATAAAGGAGCCC	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr2:160031574_160031598delCAGAGACCTTCTGATAAAGGAGCCC	ENST00000263635.6	+	12	1851_1875	c.1614_1638delCAGAGACCTTCTGATAAAGGAGCCC	c.(1612-1638)tafs	p.YRDLLIKEP538fs	TANC1_ENST00000454300.1_Frame_Shift_Del_p.YRDLLIKEP432fs	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	16	124	0	177	538						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGGCCGCCTACAGAGACCTTCTGATAAAGGAGCCCCAACTACAGA	0.573000													1	0	1	1	0	1	0.999997	20	104	0	132							3
FRMD3	257019	broad.mit.edu	37	9	85924485	85924485	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr9:85924485delA	ENST00000304195.3	-	10	1098	c.892delT	c.(892-894)ggfs	p.W298fs	FRMD3_ENST00000376438.1_Frame_Shift_Del_p.W298fs|FRMD3_ENST00000376434.1_Frame_Shift_Del_p.W104fs	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	9	9	0	25	298	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CCACACTTCCAAAGATGTTTG	0.338000													1	0	1	1	0	1	0.996859	9	18	0	25							3
MRVI1	10335	broad.mit.edu	37	11	10625994	10625996	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr11:10625994_10625996delCTC	ENST00000547195.1	-	12	1926_1928	c.1426_1428delGAG	c.(1426-1428)del	p.E476del	MRVI1_ENST00000534266.2_In_Frame_Del_p.E252del|MRVI1_ENST00000558540.1_In_Frame_Del_p.E252del|MRVI1_ENST00000552103.1_In_Frame_Del_p.E476del|MRVI1_ENST00000545852.1_In_Frame_Del_p.E252del|MRVI1_ENST00000421747.1_In_Frame_Del_p.E558del|MRVI1_ENST00000436272.1_In_Frame_Del_p.E540del|MRVI1_ENST00000423302.2_In_Frame_Del_p.E567del|MRVI1_ENST00000424001.1_In_Frame_Del_p.E252del|MRVI1_ENST00000527509.2_In_Frame_Del_p.E476del|MRVI1_ENST00000531107.1_In_Frame_Del_p.E559del|MRVI1_ENST00000541483.1_In_Frame_Del_p.E361del|LYVE1_ENST00000531706.1_Intron	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	43	13	0	47	540					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCTCAGTGTTCTCCTCTGTCAGG	0.473000													1	1	1	1	0	1	1.000000	43	56	0	48							4
C3AR1	719	broad.mit.edu	37	12	8211663	8211663	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A59E-01A-11D-A28R-08	TCGA-N5-A59E-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1c40f05-739b-47fb-8438-96d08cb942a3	5d62f932-3092-433a-801e-cb91dcc91ee2	g.chr12:8211663delG	ENST00000307637.4	-	2	1322	c.1119delC	c.(1117-1119)agfs	p.S373fs		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	59	46	0	67	373					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GAAAGGTTTTGCTCTGAGACT	0.512000													1	1	1	1	0	1	1.000000	59	109	0	69	0	6.823099e-01	0	6	0	69	4
AGRN	375790	broad.mit.edu	37	1	985881	985881	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:985881C>G	ENST00000379370.2	+	29	5101	c.5051C>G	c.(5050-5052)aCg>aGg	p.T1684R		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	11	117	0	83	1684	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		GGGCAGAAGACGGACGGCAAG	0.692000													1	1	1	1	1	1	0.999248	12	131	0	87	1	9.999110e-01	45	153	0	87	5
CSMD2	114784	broad.mit.edu	37	1	34180304	34180304	+	Missense_Mutation	SNP	C	C	T	rs141181841	byFrequency	TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:34180304C>T	ENST00000373381.4	-	21	3465	c.3289G>A	c.(3289-3291)Gtg>Atg	p.V1097M		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	139	67	0	137	1057						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGTCGCCCACGCCAAACTGC	0.662000													1	1	1	1	1	1	1.000000	144	75	0	142	0	4.314948e-01	1	1	0	142	5
AMY2B	280	broad.mit.edu	37	1	104122106	104122106	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:104122106C>A	ENST00000361355.4	+	12	2136	c.1520C>A	c.(1519-1521)gCt>gAt	p.A507D	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	27	310	0	198	507					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		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)		GCAATTCATGCTGAATCtaaa	0.294000													1	1	1	1	0	1	1.000000	28	332	0	206	0	0	0	0	0	206	4
INSRR	3645	broad.mit.edu	37	1	156815523	156815523	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:156815523A>G	ENST00000368195.3	-	10	2458	c.2062T>C	c.(2062-2064)Tgc>Cgc	p.C688R	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	20	76	0	87	688					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			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGCAAGGGCAGCAGTCGGAC	0.632000													1	1	1	1	0	1	1.000000	22	91	0	93	0	0	0	0	0	93	4
FCRL2	79368	broad.mit.edu	37	1	157739929	157739929	+	Missense_Mutation	SNP	G	G	A	rs139872242		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:157739929G>A	ENST00000361516.3	-	4	370	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.R108C	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	38	30	0	53	108					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGCACAGGACGTTGAAAGAGC	0.527000													1	1	1	1	1	1	1.000000	44	33	0	57	0	0	0	0	0	57	5
ASPM	259266	broad.mit.edu	37	1	197060125	197060125	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:197060125T>A	ENST00000367409.4	-	23	9747	c.9491A>T	c.(9490-9492)tAt>tTt	p.Y3164F	ASPM_ENST00000367408.1_Missense_Mutation_p.Y829F|ASPM_ENST00000294732.7_Missense_Mutation_p.Y1579F	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	6	44	0	39	3164					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATGCTATGATATTTCTGAAT	0.343000													1	1	1	1	1	1	0.982949	7	50	0	41	1	8.807163e-01	7	23	0	41	5
ASAP2	8853	broad.mit.edu	37	2	9519169	9519169	+	Silent	SNP	G	G	C	rs35776705		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:9519169G>C	ENST00000281419.3	+	19	2269	c.1929G>C	c.(1927-1929)ggG>ggC	p.G643G	ASAP2_ENST00000315273.4_Silent_p.G643G	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	8	33	0	58	643					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCCTGCGGGGGAAGGCCTCCA	0.642000													1	0	1	1	0	1	0.991879	8	33	0	63	1	2.014891e-01	2	2	0	63	3
RIF1	55183	broad.mit.edu	37	2	152311546	152311546	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:152311546T>C	ENST00000243326.4	+	21	2965	c.2482T>C	c.(2482-2484)Ttc>Ctc	p.F828L	RIF1_ENST00000453091.2_Missense_Mutation_p.F828L|RIF1_ENST00000430328.2_Missense_Mutation_p.F828L|RIF1_ENST00000428287.2_Missense_Mutation_p.F828L|RIF1_ENST00000444746.2_Missense_Mutation_p.F828L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	59	97	0	77	828					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGATACCCTCTTCACTATTGG	0.383000													1	1	1	1	1	1	1.000000	68	110	0	91	0	6.310303e-01	1	4	0	91	5
TTN	7273	broad.mit.edu	37	2	179569235	179569235	+	Splice_Site	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:179569235A>G	ENST00000589042.1	-	105	30187		c.e105+1		TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30	39	0	48								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTAACTTACCAATTACAG	0.378000													1	1	1	1	1	1	1.000000	30	40	0	48	0	0	0	0	0	48	5
FANCD2	2177	broad.mit.edu	37	3	10142903	10142903	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:10142903A>G	ENST00000419585.1	+	44	4474	c.4313A>G	c.(4312-4314)gAa>gGa	p.E1438G	FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000383807.1_Missense_Mutation_p.E1438G			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	9	75	0	49	0					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGTGCTGGAGAAAAGGAGCAA	0.428000			D, Mis, N, F			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				1	0	1	1	1	1	0.994978	9	85	0	57	1	9.901914e-01	20	61	0	57	4
HIGD1A	25994	broad.mit.edu	37	3	42827564	42827564	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr3:42827564A>G	ENST00000321331.7	-	3	305	c.188T>C	c.(187-189)aTg>aCg	p.M63T	HIGD1A_ENST00000430190.1_Missense_Mutation_p.M63T|HIGD1A_ENST00000452906.2_Missense_Mutation_p.M77T|HIGD1A_ENST00000418900.2_Missense_Mutation_p.M63T|HIGD1A_ENST00000470543.1_5'UTR	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN	HIG1 hypoxia inducible domain family, member 1A	25	35	0	84	63	HIG1.				response to stress	integral to membrane|protein complex	protein binding			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TGCCACACGCATGTGGATCAG	0.383000													1	1	1	1	1	1	1.000000	28	38	0	91	0	0	0	0	0	91	5
PIGG	54872	broad.mit.edu	37	4	517577	517577	+	Silent	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr4:517577C>A	ENST00000453061.2	+	9	2050	c.1944C>A	c.(1942-1944)ggC>ggA	p.G648G	PIGG_ENST00000504346.1_Silent_p.G559G|PIGG_ENST00000310340.5_Silent_p.G640G|PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Silent_p.G515G	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	22	32	0	60	648					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGCTCAGAGGCCGCGAGAAGT	0.652000													1	1	1	1	1	1	1.000000	24	34	0	62	1	9.891834e-01	8	5	0	62	5
FBXW7	0	broad.mit.edu	37	4	153244092	153244092	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr4:153244092G>A	ENST00000281708.4	-	12	3294	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	53	91	0	133	689					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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTCCCATTCCGACTCCCAACT	0.478000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	58	93	0	139	1	8.158165e-01	4	3	0	139	5
FBXW7	0	broad.mit.edu	37	4	153245518	153245518	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr4:153245518G>A	ENST00000281708.4	-	11	2902	c.1673C>T	c.(1672-1674)tCt>tTt	p.S558F	FBXW7_ENST00000603841.1_Missense_Mutation_p.S558F|FBXW7_ENST00000393956.3_Missense_Mutation_p.S382F|FBXW7_ENST00000263981.5_Missense_Mutation_p.S478F|FBXW7_ENST00000603548.1_Missense_Mutation_p.S558F|FBXW7_ENST00000296555.5_Missense_Mutation_p.S440F	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	7	11	0	16	558					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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGTATCAAGAGATCCACTCAC	0.403000			Mis, N, D, F		colorectal, endometrial, T-ALL								0	0	1	0	0	1	0.987913	7	12	0	16	1	4.861660e-01	2	2	0	16	1
ADAMTS16	170690	broad.mit.edu	37	5	5262848	5262848	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:5262848G>A	ENST00000274181.7	+	18	2879	c.2741G>A	c.(2740-2742)cGa>cAa	p.R914Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	65	82	0	86	914	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCCAAGACACGACCTGTCACG	0.512000													1	1	1	1	1	1	1.000000	67	84	0	94	1	8.244853e-01	4	2	0	94	5
C5orf42	65250	broad.mit.edu	37	5	37169474	37169474	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:37169474T>C	ENST00000274258.7	-	34	6879	c.3292A>G	c.(3292-3294)Aca>Gca	p.T1098A	C5orf42_ENST00000425232.2_Missense_Mutation_p.T2218A|C5orf42_ENST00000508244.1_Missense_Mutation_p.T2218A			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	5	99	0	61	2218										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GGACTAAATGTTTTTGCATGT	0.418000													1	0	1	1	0	1	0.966352	6	104	0	62	0	4.424779e-03	0	2	0	62	3
EGFLAM	133584	broad.mit.edu	37	5	38406264	38406264	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:38406264G>A	ENST00000322350.5	+	7	1095	c.749G>A	c.(748-750)cGt>cAt	p.R250H	EGFLAM_ENST00000336740.6_Missense_Mutation_p.R16H|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Missense_Mutation_p.R250H	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	33	55	0	67	250						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TATGGACCCCGTTATATCACC	0.483000													1	1	1	1	1	1	1.000000	39	60	0	75	0	0	0	0	0	75	5
PCDHB10	0	broad.mit.edu	37	5	140572948	140572948	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:140572948G>A	ENST00000239446.4	+	1	1007	c.823G>A	c.(823-825)Gcg>Acg	p.A275T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		49	59	1	86	275	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGAGTCAACGCGGAAGTATC	0.428000													1	0	1	1	1	1	1.000000	56	68	1	95	0	6.106387e-01	1	3	1	95	4
GRIA1	0	broad.mit.edu	37	5	153149777	153149777	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:153149777C>A	ENST00000285900.5	+	13	2415	c.2072C>A	c.(2071-2073)gCa>gAa	p.A691E	GRIA1_ENST00000521843.2_Missense_Mutation_p.A622E|GRIA1_ENST00000448073.4_Missense_Mutation_p.A701E|GRIA1_ENST00000518142.1_Missense_Mutation_p.A611E|GRIA1_ENST00000518783.1_Missense_Mutation_p.A701E|GRIA1_ENST00000340592.5_Missense_Mutation_p.A691E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	39	123	1	100	691					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			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		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)	ATGAAGTCAGCAGAGCCATCA	0.473000													1	0	1	1	1	1	1.000000	40	130	1	105	0	0	0	0	1	105	4
TENM2	57451	broad.mit.edu	37	5	167689260	167689260	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:167689260C>G	ENST00000519204.1	+	28	7525	c.7407C>G	c.(7405-7407)agC>agG	p.S2469R	TENM2_ENST00000545108.1_Missense_Mutation_p.S2589R|TENM2_ENST00000520394.1_Missense_Mutation_p.S2351R|TENM2_ENST00000403607.2_Missense_Mutation_p.S2414R|TENM2_ENST00000518659.1_Missense_Mutation_p.S2590R					teneurin transmembrane protein 2	9	15	0	29																		GCATCGCCAGCGAAGATAGCC	0.557000													1	1	1	1	1	1	0.997155	9	15	0	31	0	0	0	0	0	31	5
SQSTM1	8878	broad.mit.edu	37	5	179263548	179263548	+	Missense_Mutation	SNP	G	G	A	rs143977783		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:179263548G>A	ENST00000510187.1	+	7	1044	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	SQSTM1_ENST00000360718.5_Silent_p.A342A|SQSTM1_ENST00000402874.3_Silent_p.A342A|C5orf45_ENST00000403396.2_3'UTR|SQSTM1_ENST00000389805.4_Silent_p.A426A|SQSTM1_ENST00000376929.3_Silent_p.A342A			Q13501	SQSTM_HUMAN	sequestosome 1	8	186	0	134	0	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)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	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)			ACATCGGAGCGGCTCTGGACA	0.557000													1	0	1	1	0	1	0.989813	8	189	0	139	0	9.999918e-01	1	704	0	139	3
FLT4	2324	broad.mit.edu	37	5	180048621	180048621	+	Silent	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr5:180048621G>A	ENST00000261937.6	-	13	2019	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	FLT4_ENST00000502649.1_Silent_p.H647H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.H647H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	29	36	0	58	647	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	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)	AGTGGCCCTCGTGCTCGGGCG	0.687000													1	1	1	1	1	1	1.000000	31	40	0	61	0	0	0	1	0	61	5
THBS2	7058	broad.mit.edu	37	6	169623562	169623562	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr6:169623562G>A	ENST00000366787.3	-	19	3031	c.2782C>T	c.(2782-2784)Cgg>Tgg	p.R928W	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	4	52	0	52	928					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		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)		ATATCACCCCGTCCATCACCT	0.403000													1	0	1	1	0	1	0.940233	5	57	0	58	0	2.093051e-01	0	9	0	58	3
AGMO	392636	broad.mit.edu	37	7	15601455	15601455	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:15601455C>T	ENST00000342526.3	-	1	185	c.16G>A	c.(16-18)Gcc>Acc	p.A6T		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	12	106	0	60	6					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			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCCTGCTGGGCTTCTGGGTTC	0.448000													1	1	1	1	0	1	0.999267	12	117	0	67	0	0	0	0	0	67	4
WBSCR17	64409	broad.mit.edu	37	7	70853251	70853251	+	Silent	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:70853251G>A	ENST00000333538.5	+	3	1087	c.453G>A	c.(451-453)ctG>ctA	p.L151L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	6	66	0	59	151	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCAAGGACCTGCCCCAGATAT	0.542000													1	1	1	1	0	1	0.966850	6	77	0	63	0	0	0	1	0	63	4
MAGI2	9863	broad.mit.edu	37	7	77797376	77797376	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:77797376C>T	ENST00000354212.4	-	15	2706	c.2453G>A	c.(2452-2454)cGc>cAc	p.R818H	MAGI2_ENST00000522391.1_Missense_Mutation_p.R818H|MAGI2_ENST00000419488.1_Missense_Mutation_p.R804H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	33	101	1	113	818	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGGTGAAGGCGGCCATCTCT	0.507000													1	0	1	1	1	1	1.000000	36	110	1	117	0	0	0	0	1	117	4
GRM3	0	broad.mit.edu	37	7	86415593	86415593	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr7:86415593G>A	ENST00000361669.2	+	3	1584	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.R162Q|GRM3_ENST00000536043.1_Missense_Mutation_p.R34Q|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.R160Q|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	158	37	0	195	162					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AACCTGCTGCGGCTCTTCCAG	0.522000													1	1	1	1	1	1	1.000000	175	41	0	219	0	0	0	0	0	219	5
FAM86B2	653333	broad.mit.edu	37	8	12285188	12285188	+	Silent	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr8:12285188G>A	ENST00000262365.4	-	7	869	c.870C>T	c.(868-870)tgC>tgT	p.C290C	FAM86B2_ENST00000393715.3_Silent_p.C62C|FAM86B2_ENST00000309608.5_3'UTR|FAM86B2_ENST00000351291.4_Silent_p.C256C	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	48	284	0	380	290										endometrium(1)|kidney(2)	3						TGAACAGCTGGCATGTCTCTG	0.647000													1	0	1	1	0	1	1.000000	54	328	0	393	1	5.708987e-01	3	10	0	393	3
SORBS3	10174	broad.mit.edu	37	8	22428688	22428688	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr8:22428688G>A	ENST00000240123.7	+	18	2080	c.1697G>A	c.(1696-1698)cGc>cAc	p.R566H	SORBS3_ENST00000428103.1_Missense_Mutation_p.R224H	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	35	54	0	71	566					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		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)		TCCCCCCGTCGCACTGGCTTC	0.697000													1	1	1	1	1	1	1.000000	39	62	0	80	1	1	129	155	0	80	5
CDKN2B	1030	broad.mit.edu	37	9	22006054	22006054	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:22006054C>T	ENST00000276925.6	-	2	758	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	12	20	0	32	117					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	p.0(1)|p.0?(1)		lung(2)	2		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)		GCCAAGTCCACGGGCAGACGA	0.716000													1	1	1	1	0	1	0.999988	16	22	0	34	0	0	0	1	0	34	4
ARHGEF39	84904	broad.mit.edu	37	9	35664430	35664430	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:35664430C>T	ENST00000378387.3	-	3	410	c.293G>A	c.(292-294)cGc>cAc	p.R98H	ARHGEF39_ENST00000378395.2_Missense_Mutation_p.R62H|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000343259.3_Missense_Mutation_p.R98H	NM_032818.2	NP_116207.2			Rho guanine nucleotide exchange factor (GEF) 39	46	66	0	83																		CTCCAAGTGGCGGCAGAAGCC	0.567000													1	0	1	1	1	1	1.000000	52	70	0	88	1	9.843127e-01	5	6	0	88	4
RALGDS	5900	broad.mit.edu	37	9	135985085	135985085	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr9:135985085G>A	ENST00000393160.3	-	4	700	c.347C>T	c.(346-348)aCg>aTg	p.T116M	RALGDS_ENST00000372047.3_Intron|RALGDS_ENST00000393157.3_Missense_Mutation_p.T170M|RALGDS_ENST00000542690.1_Missense_Mutation_p.T242M|RALGDS_ENST00000372050.3_Missense_Mutation_p.T171M|RALGDS_ENST00000372062.3_Intron	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	6	79	0	79	171	N-terminal 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	p.T171M(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGAGGAGGCCGTGAGGGCGTC	0.527000			T	CIITA	PMBL, Hodgkin Lymphona,								1	1	1	1	0	1	0.966671	6	85	0	83	0	2.032076e-01	0	3	0	83	4
GATA3	2625	broad.mit.edu	37	10	8097749	8097749	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr10:8097749C>T	ENST00000379328.3	+	2	699	c.131C>T	c.(130-132)cCg>cTg	p.P44L	GATA3_ENST00000346208.3_Missense_Mutation_p.P44L	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	6	9	0	13	44					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			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TACCCGCTGCCGGAGGAGGTG	0.662000			F, N, S		breast		HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)						0	0	1	1	0	1	0.987913	7	12	0	15	0	0	0	0	0	15	2
STK32C	282974	broad.mit.edu	37	10	134040384	134040384	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr10:134040384G>T	ENST00000368622.1	-	4	589	c.208C>A	c.(208-210)Cag>Aag	p.Q70K	STK32C_ENST00000368625.4_Missense_Mutation_p.Q200K			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	69	64	0	65	187							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		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)		TCGGAGAACTGCACGTTCTGC	0.622000													1	1	1	1	1	1	1.000000	72	68	0	71	1	9.999813e-01	12	9	0	71	5
MS4A7	58475	broad.mit.edu	37	11	60161317	60161317	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:60161317T>A	ENST00000358246.1	+	6	764	c.571T>A	c.(571-573)Tca>Aca	p.S191T	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Intron|MS4A7_ENST00000534016.1_Missense_Mutation_p.S191T|MS4A7_ENST00000300184.3_Missense_Mutation_p.S236T	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	5	49	0	44	236						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						AAAGAGTTCTTCACGGTCTTG	0.373000													1	1	1	1	1	1	0.967588	6	55	0	50	0	9.846377e-01	0	76	0	50	5
ZP1	22917	broad.mit.edu	37	11	60637224	60637224	+	Missense_Mutation	SNP	C	C	T	rs138582317		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:60637224C>T	ENST00000278853.5	+	3	533	c.533C>T	c.(532-534)gCc>gTc	p.A178V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	51	7	0	57	178					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCTGGCCATGCCTTTCCCAGC	0.632000													1	1	1	1	1	1	1.000000	54	7	0	60	0	0	0	0	0	60	5
FOLR3	2352	broad.mit.edu	37	11	71847090	71847090	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:71847090C>T	ENST00000445078.2	+	2	157	c.86C>T	c.(85-87)aCg>aTg	p.T29M	FOLR3_ENST00000442948.2_Missense_Mutation_p.T31M|FOLR3_ENST00000456237.1_Missense_Mutation_p.T31M			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	30	166	0	201	29					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CGGGCCAGGACGGACCTGCTC	0.622000													1	1	1	1	1	1	1.000000	32	176	0	216	0	0	0	0	0	216	5
ACRV1	56	broad.mit.edu	37	11	125547800	125547800	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr11:125547800C>T	ENST00000533904.1	-	2	787	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	ACRV1_ENST00000345274.1_Missense_Mutation_p.G79S|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000445562.1_Missense_Mutation_p.G54S|ACRV1_ENST00000433875.1_Missense_Mutation_p.G149S|ACRV1_ENST00000453509.1_Missense_Mutation_p.G79S|ACRV1_ENST00000426183.1_Missense_Mutation_p.G79S|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000257382.2_Missense_Mutation_p.G94S			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	8	162	0	178	149	4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	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)		TCACCGGAGCCATGTTCACCT	0.552000													1	1	1	1	0	1	0.997116	10	181	0	195	0	0	0	0	0	195	4
PDE1B	0	broad.mit.edu	37	12	54963370	54963370	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr12:54963370T>G	ENST00000243052.3	+	5	887	c.451T>G	c.(451-453)Tct>Gct	p.S151A	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.S110A|PDE1B_ENST00000550620.1_Missense_Mutation_p.S131A	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	10	28	0	51	151					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CCCCACTTACTCTACTGCGGT	0.498000													1	1	1	1	1	1	0.999541	12	34	0	57	0	0	0	1	0	57	5
ERBB3	2065	broad.mit.edu	37	12	56477655	56477655	+	Missense_Mutation	SNP	C	C	T	rs142735651		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr12:56477655C>T	ENST00000267101.3	+	2	643	c.203C>T	c.(202-204)aCg>aTg	p.T68M	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.T9M|ERBB3_ENST00000411731.2_Missense_Mutation_p.T68M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	82	135	0	179	68					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			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATTGTGCTCACGGGACACAAT	0.547000													1	1	1	1	1	1	1.000000	89	148	0	197	0	0	1	0	0	197	5
RPLP0	6175	broad.mit.edu	37	12	120637130	120637130	+	Silent	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr12:120637130G>A	ENST00000551150.1	-	2	528	c.213C>T	c.(211-213)aaC>aaT	p.N71N	RPLP0_ENST00000546989.1_Silent_p.N71N|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000313104.5_Silent_p.N71N|RPLP0_ENST00000228306.4_Silent_p.N71N|RPLP0_ENST00000392514.4_Silent_p.N71N			P05388	RLA0_HUMAN	ribosomal protein, large, P0	51	101	0	131	71					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			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAGCTGGGTTGTTTTCCAGGT	0.567000													1	1	1	1	0	1	1.000000	58	123	0	150	1	1	983	1755	0	150	4
BRCA2	675	broad.mit.edu	37	13	32913905	32913905	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr13:32913905A>G	ENST00000544455.1	+	11	5640	c.5413A>G	c.(5413-5415)Aat>Gat	p.N1805D	BRCA2_ENST00000380152.3_Missense_Mutation_p.N1805D	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	17	100	0	58	1805			N -> S.		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			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		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)		ACAAACTGTAAATGAAGATAT	0.313000			D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			1	1	1	1	1	1	0.999989	18	105	0	61	0	0	1	0	0	61	5
TSC22D1	8848	broad.mit.edu	37	13	45148061	45148061	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr13:45148061G>T	ENST00000458659.2	-	1	2640	c.2150C>A	c.(2149-2151)cCg>cAg	p.P717Q	TSC22D1_ENST00000501704.2_Intron	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	16	205	0	79	717	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		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)		CACTGCTGCCGGAGCCTGGCC	0.577000													1	1	1	1	0	1	0.999943	16	217	0	82	0	3.489891e-01	1	16	0	82	4
NEK5	341676	broad.mit.edu	37	13	52661488	52661488	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr13:52661488C>T	ENST00000355568.4	-	15	1517	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	5	101	0	70	460							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.E517K(2)|p.E460K(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		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	0.393000													1	0	1	1	0	1	0.966261	6	111	0	77	0	1.118133e-02	0	3	0	77	3
NPAP1	23742	broad.mit.edu	37	15	24921045	24921045	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:24921045G>A	ENST00000329468.2	+	1	505	c.31G>A	c.(31-33)Ggg>Agg	p.G11R		NM_018958.2	NP_061831.2			nuclear pore associated protein 1	7	8	0	11																		ATTTAGACCCGGGTGCCGCCG	0.662000													0	1	1	1	0	1	0.999577	11	11	0	12	0	0	0	0	0	12	3
HERC2	8924	broad.mit.edu	37	15	28474383	28474383	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:28474383G>A	ENST00000261609.7	-	34	5338	c.5230C>T	c.(5230-5232)Cga>Tga	p.R1744*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	23	297	0	190	1744					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			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		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)		AAAACATTTCGAATGTTCTGT	0.378000													1	1	1	1	0	1	1.000000	28	327	0	205	0	6.807192e-03	0	2	0	205	4
RTF1	23168	broad.mit.edu	37	15	41772461	41772461	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:41772461C>T	ENST00000389629.4	+	17	1976	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	49	67	0	66	655					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		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)		AGTGACCTCTCAGAAGATCTG	0.448000													1	1	1	1	1	1	1.000000	55	75	0	74	1	1	28	38	0	74	5
ITGA11	22801	broad.mit.edu	37	15	68643609	68643609	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr15:68643609C>G	ENST00000423218.2	-	8	976	c.881G>C	c.(880-882)aGa>aCa	p.R294T	ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Missense_Mutation_p.R294T			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	10	38	0	43	294	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CACCGCATATCTTGTTACGTT	0.557000													1	1	1	1	1	1	0.997889	10	39	0	45	0	0	0	1	0	45	5
TP53	7157	broad.mit.edu	37	17	7578478	7578478	+	Missense_Mutation	SNP	G	G	C	rs137852790		TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:7578478G>C	ENST00000420246.2	-	5	584	c.452C>G	c.(451-453)cCc>cGc	p.P151R	TP53_ENST00000359597.4_Missense_Mutation_p.P151R|TP53_ENST00000413465.2_Missense_Mutation_p.P151R|TP53_ENST00000445888.2_Missense_Mutation_p.P151R|TP53_ENST00000269305.4_Missense_Mutation_p.P151R|TP53_ENST00000455263.2_Missense_Mutation_p.P151R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	52	18	0	66	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(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.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.607000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	56	18	0	73	1	1	35	0	0	73	5
MRPS7	51081	broad.mit.edu	37	17	73258657	73258657	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr17:73258657G>C	ENST00000579761.1	+	2	390	c.163G>C	c.(163-165)Gtg>Ctg	p.V55L	MRPS7_ENST00000245539.6_Missense_Mutation_p.V55L|MRPS7_ENST00000579002.1_Missense_Mutation_p.V84L			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	12	221	0	277	55					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	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)			TCGCAAGCCAGTGGAGGAGCT	0.493000													1	1	1	1	0	1	0.999886	15	235	0	289	1	9.876797e-01	12	103	0	289	4
ASXL3	80816	broad.mit.edu	37	18	31325498	31325498	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr18:31325498C>A	ENST00000269197.5	+	12	5686	c.5686C>A	c.(5686-5688)Cag>Aag	p.Q1896K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	28	430	0	250	1896					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAGGTCAAACAGCAAAAGCG	0.507000													1	0	1	1	0	1	1.000000	31	466	0	267	0	0	0	0	0	267	3
CYP4F3	4051	broad.mit.edu	37	19	15756607	15756607	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:15756607G>T	ENST00000221307.7	+	3	325	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W	CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000586182.1_Intron|CYP4F3_ENST00000591058.1_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	37	46	0	94	93					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			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTGGTGGGTGGGGCCCTGGCA	0.567000													1	1	1	1	1	1	1.000000	38	48	0	100	0	0	0	1	0	100	5
TSHZ3	57616	broad.mit.edu	37	19	31768484	31768484	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:31768484G>T	ENST00000240587.4	-	2	2542	c.2215C>A	c.(2215-2217)Ccc>Acc	p.P739T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	43	90	0	110	739					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			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCAGGGAGGGCTTGGCGGCC	0.617000													1	1	1	1	1	1	1.000000	45	96	0	116	1	9.780748e-01	5	11	0	116	5
CYP2A7	1549	broad.mit.edu	37	19	41386411	41386411	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:41386411G>T	ENST00000301146.4	-	3	1007	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.L105I	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	11	105	0	74	156						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCCTCGATGAGGAAGCCCGAC	0.667000													1	1	1	1	0	1	0.999270	12	115	0	82	0	0	0	0	0	82	4
ZC3H4	23211	broad.mit.edu	37	19	47572491	47572491	+	Silent	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:47572491C>A	ENST00000253048.5	-	14	2293	c.2256G>T	c.(2254-2256)ccG>ccT	p.P752P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	5	51	0	63	752							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		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)		CGCCTGGCTTCGGCCGGCCTG	0.677000													1	1	1	1	0	1	0.940536	5	51	0	64	0	1.286085e-01	0	6	0	64	4
ZNF446	55663	broad.mit.edu	37	19	58991357	58991357	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr19:58991357G>A	ENST00000596341.1	+	6	2993	c.773G>A	c.(772-774)gGg>gAg	p.G258E	ZNF446_ENST00000594369.1_Missense_Mutation_p.G258E|ZNF446_ENST00000335841.4_Missense_Mutation_p.G230R			Q9NWS9	ZN446_HUMAN	zinc finger protein 446	11	5	0	11	258					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		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)		CTGCTCACGGGGACAGGCGTC	0.657000													0	1	1	1	1	1	0.999962	13	7	0	12	1	1	36	12	0	12	4
DHX35	60625	broad.mit.edu	37	20	37634873	37634873	+	Silent	SNP	C	C	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr20:37634873C>A	ENST00000252011.3	+	12	1129	c.1096C>A	c.(1096-1098)Cga>Aga	p.R366R	DHX35_ENST00000373323.4_Silent_p.R335R|DHX35_ENST00000373325.2_Silent_p.R366R	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	102	558	0	315	366	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R366R(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TGTGAAACTCCGAGCCTACAA	0.532000													1	0	1	1	1	1	1.000000	106	584	0	330	0	3.572619e-01	0	8	0	330	4
MYH9	4627	broad.mit.edu	37	22	36696961	36696961	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr22:36696961T>A	ENST00000216181.5	-	22	3004	c.2774A>T	c.(2773-2775)gAg>gTg	p.E925V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	4	126	0	128	925					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			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCCTCCTCCTCCACCCTGGC	0.647000			T	ALK	ALCL		Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome		Hereditary Macrothrombocytopenia, MYH9-associated				0	0	1	0	0	1	0.891444	4	141	0	140	1	4.675990e-01	2	47	0	140	1
PABPC5	140886	broad.mit.edu	37	X	90690676	90690676	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chrX:90690676C>T	ENST00000312600.3	+	2	314	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	16	15	0	51	34	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CGAGGACATGCTCTATAAGAA	0.572000													1	1	1	1	1	1	0.999993	16	15	0	52	0	0	0	0	0	52	5
BAI2	576	broad.mit.edu	37	1	32221719	32221719	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr1:32221719delC	ENST00000373658.3	-	4	1060	c.719delG	c.(718-720)gcfs	p.G240fs	BAI2_ENST00000398538.1_Frame_Shift_Del_p.G228fs|BAI2_ENST00000398542.1_Frame_Shift_Del_p.G228fs|BAI2_ENST00000527361.1_Frame_Shift_Del_p.G240fs|BAI2_ENST00000398556.3_Frame_Shift_Del_p.G243fs|BAI2_ENST00000373655.2_Frame_Shift_Del_p.G240fs|BAI2_ENST00000398547.1_Frame_Shift_Del_p.G228fs|BAI2_ENST00000257070.4_Frame_Shift_Del_p.G240fs	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	14	81	0	79	240					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		AGCAGGAGGGCCTGGAGATGT	0.701000													1	1	1	1	0	1	0.999819	14	101	0	80	0	1.738375e-02	0	2	0	80	4
FARP2	9855	broad.mit.edu	37	2	242371190	242371193	+	Splice_Site	DEL	GTAA	GTAA	-			TCGA-N5-A59F-01A-11D-A28R-08	TCGA-N5-A59F-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd5c58ec-271c-4f39-ab26-b6e9ae076a7e	10f926f4-b281-46f0-9d46-a1c231b10ca5	g.chr2:242371190_242371193delGTAA	ENST00000264042.3	+	9	1037		c.e9+1		FARP2_ENST00000545004.1_Splice_Site|FARP2_ENST00000373287.4_Splice_Site	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	6	43	0	48						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			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		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)		AGAGGTTCATGTAAGTATTATTTT	0.333000													0	0	1	1	0	1	0.968011	6	47	0	46	0	6.217249e-15	0	1	0	46	2
NCDN	23154	broad.mit.edu	37	1	36023792	36023792	+	Translation_Start_Site	SNP	A	A	G	rs141726468		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr1:36023792A>G	ENST00000373243.2	+	1	384	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Start_Codon_SNP_p.M1V|NCDN_ENST00000373253.3_Intron	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	98	5	0	196	1					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GACTTCATCAATGTCGTGTTG	0.587000													1	1	1	1	1	1	1.000000	134	10	0	213	1	1	26	2	0	213	5
FAM102B	284611	broad.mit.edu	37	1	109171385	109171385	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr1:109171385T>A	ENST00000370035.3	+	9	1269	c.929T>A	c.(928-930)aTa>aAa	p.I310K	FAM102B_ENST00000405454.1_Missense_Mutation_p.I310K	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	21	39	0	49	310										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		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)		GTAGAGAAAATATTACAAAGT	0.408000													1	1	1	1	1	1	1.000000	23	40	0	50	1	9.684647e-01	5	8	0	50	5
SCN3A	6328	broad.mit.edu	37	2	165969452	165969452	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr2:165969452A>T	ENST00000360093.3	-	21	4277	c.3786T>A	c.(3784-3786)taT>taA	p.Y1262*	SCN3A_ENST00000409101.3_Nonsense_Mutation_p.Y1213*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.Y1262*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	114	112	0	218	1262						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTTGAAATCCATAAGCAACCC	0.318000													1	1	1	1	1	1	1.000000	125	126	0	238	0	0	0	0	0	238	5
PLCL2	23228	broad.mit.edu	37	3	17051510	17051510	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:17051510G>T	ENST00000418129.2	+	2	759	c.294G>T	c.(292-294)gaG>gaT	p.E98D	PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000432376.1_Missense_Mutation_p.E98D|PLCL2_ENST00000396755.2_Missense_Mutation_p.E98D	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	16	87	0	149	224					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E98D(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						TATATGGAGAGAATTATGAGT	0.418000													1	1	1	1	1	1	0.999978	17	96	0	166	0	0	0	1	0	166	5
LARS2	23395	broad.mit.edu	37	3	45583357	45583357	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:45583357A>T	ENST00000415258.1	+	20	2582	c.2441A>T	c.(2440-2442)tAc>tTc	p.Y814F	LARS2_ENST00000414984.1_Missense_Mutation_p.Y771F|LARS2_ENST00000265537.3_Missense_Mutation_p.Y814F			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	3	38	0	65	814					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGTGCCCACTACACTTGGGAT	0.597000													0	0	1	0	0	1	0.893282	4	43	0	70	1	5.750007e-01	2	18	0	70	1
CEP70	80321	broad.mit.edu	37	3	138290180	138290180	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr3:138290180C>A	ENST00000264982.3	-	4	354	c.88G>T	c.(88-90)Gaa>Taa	p.E30*	CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000542237.1_Nonsense_Mutation_p.E10*|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000484888.1_Nonsense_Mutation_p.E30*|CEP70_ENST00000481834.1_Nonsense_Mutation_p.E30*|CEP70_ENST00000464035.1_Nonsense_Mutation_p.E30*	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	3	27	0	20	30					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTATGCTTTCCCATTCTGCT	0.328000													0	0	1	0	0	1	0.812736	3	29	0	25	1	8.127364e-01	5	27	0	25	1
AREG	374	broad.mit.edu	37	4	75312484	75312484	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr4:75312484G>C	ENST00000395748.3	+	2	507	c.295G>C	c.(295-297)Gat>Cat	p.D99H	AREG_ENST00000264487.2_Missense_Mutation_p.D99H|AREG_ENST00000502307.1_Missense_Mutation_p.D99H	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	33	108	0	116	99					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			CTATATTGTCGATGATTCAGT	0.448000													1	1	1	1	1	1	1.000000	35	126	0	118	0	0	0	0	0	118	5
DAB2	1601	broad.mit.edu	37	5	39377323	39377323	+	Silent	SNP	A	A	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:39377323A>G	ENST00000545653.1	-	11	2033	c.1503T>C	c.(1501-1503)aaT>aaC	p.N501N	DAB2_ENST00000509337.1_Silent_p.N501N|DAB2_ENST00000339788.6_Silent_p.N304N|DAB2_ENST00000320816.6_Silent_p.N522N	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	54	64	0	94	522					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			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AAGGGGACTGATTGAAGACCA	0.483000													1	1	1	1	1	1	1.000000	61	71	0	106	1	1	11	27	0	106	5
PLCXD3	345557	broad.mit.edu	37	5	41382479	41382479	+	Missense_Mutation	SNP	C	C	A	rs143006059		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:41382479C>A	ENST00000377801.3	-	2	335	c.261G>T	c.(259-261)caG>caT	p.Q87H	PLCXD3_ENST00000328457.3_Missense_Mutation_p.Q87H			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	16	56	0	64	87	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CAGCTCCTAGCTGGCCAGTAA	0.443000													1	0	1	1	1	1	0.999967	16	58	0	64	0	0	0	0	0	64	4
SOWAHA	134548	broad.mit.edu	37	5	132150842	132150842	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:132150842C>A	ENST00000378693.2	+	1	1810	c.1529C>A	c.(1528-1530)cCc>cAc	p.P510H		NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN	sosondowah ankyrin repeat domain family member A	10	45	0	67	510																	AGCGCCTCGCCCATGGCTCCA	0.582000													1	1	1	1	1	1	0.998895	11	46	0	68	0	0	0	1	0	68	5
GABRA6	2559	broad.mit.edu	37	5	161128593	161128593	+	Silent	SNP	G	G	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:161128593G>T	ENST00000523217.1	+	9	1388	c.1146G>T	c.(1144-1146)acG>acT	p.T382T	GABRA6_ENST00000274545.5_Silent_p.T392T	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	9	90	0	77	392					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)	AAGTGCTCACGAGAGCGCCCA	0.463000										TCGA Ovarian(5;0.080)			1	1	1	1	1	1	0.998629	11	96	0	80	0	0	0	0	0	80	5
FBXO30	84085	broad.mit.edu	37	6	146127324	146127324	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr6:146127324C>T	ENST00000237281.4	-	2	384	c.218G>A	c.(217-219)cGa>cAa	p.R73Q		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	106	105	0	216	73							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AACTTTATTTCGGGCCATGGT	0.418000													1	1	1	1	1	1	1.000000	114	111	0	230	1	9.981269e-01	5	8	0	230	5
TULP4	56995	broad.mit.edu	37	6	158923393	158923393	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr6:158923393G>T	ENST00000367097.3	+	13	4055	c.2698G>T	c.(2698-2700)Gtg>Ttg	p.V900L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	13	129	0	173	900					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		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)		CGTGGAGGAGGTGTGCCGGCC	0.642000													1	1	1	1	0	1	0.999950	16	133	0	183	0	1.824398e-01	0	7	0	183	4
ABCA13	154664	broad.mit.edu	37	7	48411971	48411971	+	Silent	SNP	A	A	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr7:48411971A>G	ENST00000435803.1	+	33	11034	c.11010A>G	c.(11008-11010)gcA>gcG	p.A3670A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	89	96	0	150	3670					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTTGAGTGCATTTTTCAGCC	0.423000													1	1	1	1	1	1	1.000000	95	109	0	163	0	2.183762e-01	0	2	0	163	5
GRM3	0	broad.mit.edu	37	7	86468807	86468807	+	Silent	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr7:86468807G>A	ENST00000361669.2	+	4	3076	c.1977G>A	c.(1975-1977)ctG>ctA	p.L659L	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Silent_p.L251L|GRM3_ENST00000536043.1_Silent_p.L531L|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	99	88	0	194	659					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACTCAGCCCTGCTGACCAAGA	0.527000													1	1	1	1	1	1	1.000000	107	97	0	205	0	0	0	0	0	205	5
DLGAP2	9228	broad.mit.edu	37	8	1626408	1626408	+	Missense_Mutation	SNP	G	G	A	rs34274599		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:1626408G>A	ENST00000421627.2	+	9	2211	c.2077G>A	c.(2077-2079)Gtc>Atc	p.V693I		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	24	78	0	77	772					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		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)		TTCTAACAGCGTCACGGCCGC	0.557000													1	1	1	1	1	1	1.000000	25	85	0	82	0	0	0	0	0	82	5
ASH2L	9070	broad.mit.edu	37	8	37993284	37993284	+	Splice_Site	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:37993284G>A	ENST00000343823.6	+	14	2028	c.1719_splice	c.e14+1	p.T573_splice	ASH2L_ENST00000545394.1_Splice_Site_p.T434_splice|ASH2L_ENST00000521652.1_Intron|ASH2L_ENST00000250635.7_Intron|ASH2L_ENST00000428278.2_Splice_Site_p.T479_splice	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	12	27	0	29	573	B30.2/SPRY.				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			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				AGAGCTGCACGGTACGTACAT	0.423000													1	1	1	1	1	1	0.999808	13	29	0	32	1	1	11	103	0	32	5
SLC10A5	347051	broad.mit.edu	37	8	82606828	82606828	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr8:82606828T>C	ENST00000518568.1	-	1	1581	c.380A>G	c.(379-381)aAa>aGa	p.K127R		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	27	40	0	51	127						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GTCTTTTTGTTTGAGCACTTT	0.353000													1	1	1	1	1	1	1.000000	28	43	0	52	0	6.515359e-01	1	4	0	52	5
LYZL2	119180	broad.mit.edu	37	10	30901770	30901770	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr10:30901770T>C	ENST00000375318.2	-	4	552	c.496A>G	c.(496-498)Aca>Gca	p.T166A		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	5	33	0	67	120					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				ATTCCTTGTGTCTCTTTAACA	0.418000													1	1	1	1	1	1	0.968864	6	36	0	72	0	0	0	0	0	72	5
SLIT1	6585	broad.mit.edu	37	10	98761065	98761065	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr10:98761065A>G	ENST00000266058.4	-	37	4654	c.4409T>C	c.(4408-4410)gTc>gCc	p.V1470A	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.S1429P	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	50	20	0	111	1470	CTCK.				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			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCCCCTCTGGACCTGGTGAAA	0.677000													1	1	1	1	1	1	1.000000	54	22	0	114	0	0	0	0	0	114	5
SOX6	55553	broad.mit.edu	37	11	16340073	16340073	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:16340073G>A	ENST00000352083.6	-	3	441	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SOX6_ENST00000528252.1_Missense_Mutation_p.R122C|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000527619.1_Missense_Mutation_p.R125C|SOX6_ENST00000396356.3_Missense_Mutation_p.R122C|SOX6_ENST00000316399.6_Missense_Mutation_p.R122C|SOX6_ENST00000528429.1_Missense_Mutation_p.R122C			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	88	6	0	176	122					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.R122C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCTTTGCGGCGCTCTGGGGTT	0.502000													1	1	1	1	1	1	1.000000	94	6	0	186	0	0	0	0	0	186	5
NPAS4	266743	broad.mit.edu	37	11	66191699	66191699	+	Silent	SNP	C	C	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:66191699C>G	ENST00000311034.2	+	7	1514	c.1338C>G	c.(1336-1338)acC>acG	p.T446T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	17	179	0	360	446					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTTCCAGACCCATTTGCCCA	0.557000													1	1	1	1	0	1	0.999986	18	190	0	381	0	0	0	1	0	381	4
MRPL11	65003	broad.mit.edu	37	11	66204693	66204693	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:66204693C>T	ENST00000310999.7	-	4	448	c.355G>A	c.(355-357)Gag>Aag	p.E119K	MRPL11_ENST00000524576.1_5'UTR|MRPL11_ENST00000430466.2_Missense_Mutation_p.E93K|MRPL11_ENST00000329819.4_Missense_Mutation_p.E119K	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	37	0	0	77	119					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						CGGGCAATCTCATACACATGC	0.567000													1	1	1	1	0	1	1.000000	39	0	0	86	1	1	173	9	0	86	4
SCN2B	6327	broad.mit.edu	37	11	118038953	118038953	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr11:118038953C>T	ENST00000278947.5	-	3	536	c.295G>A	c.(295-297)Gtg>Atg	p.V99M		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	34	4	0	84	99	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	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;3.19e-05)|Epithelial(105;0.00117)		GAGAACTCCACGCGGTCTTGA	0.542000													1	1	1	1	1	1	1.000000	37	5	0	90	0	0	0	0	0	90	5
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	14	8	0	15	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			1	1	1	1	1	1	1.000000	18	9	0	17	1	1	22	14	0	17	5
TMEM5	10329	broad.mit.edu	37	12	64173847	64173847	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:64173847C>G	ENST00000261234.6	+	1	265	c.107C>G	c.(106-108)cCg>cGg	p.P36R	RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	8	12	0	22	36						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		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)		cgccaggcgccggccgggtcc	0.716000													0	0	1	1	0	1	0.994442	8	12	0	23	1	9.981108e-01	12	13	0	23	2
LGR5	8549	broad.mit.edu	37	12	71918248	71918248	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:71918248T>A	ENST00000266674.5	+	3	658	c.347T>A	c.(346-348)cTt>cAt	p.L116H	LGR5_ENST00000540815.2_Missense_Mutation_p.L116H|LGR5_ENST00000536515.1_Missense_Mutation_p.L116H			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	7	63	0	74	116						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTTTACAGTCTTAAAGTTCTG	0.413000													1	1	0	1	0	1	0.995158	9	68	0	82	0	8.571239e-01	0	29	0	82	3
TRPV4	59341	broad.mit.edu	37	12	110246256	110246256	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:110246256G>A	ENST00000418703.2	-	2	498	c.404C>T	c.(403-405)cCc>cTc	p.P135L	TRPV4_ENST00000392719.2_Missense_Mutation_p.P135L|TRPV4_ENST00000261740.2_Missense_Mutation_p.P135L|TRPV4_ENST00000346520.2_Missense_Mutation_p.P135L|TRPV4_ENST00000544971.1_Missense_Mutation_p.P135L|TRPV4_ENST00000541794.1_Missense_Mutation_p.P135L|TRPV4_ENST00000537083.1_Missense_Mutation_p.P135L|TRPV4_ENST00000536838.1_Missense_Mutation_p.P101L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	23	14	0	39	135					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			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGGGGCTTTGGGGCTCTGCGG	0.647000													1	1	1	1	1	1	1.000000	24	16	0	42	1	9.992525e-01	8	5	0	42	5
FAM92B	339145	broad.mit.edu	37	16	85143873	85143873	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr16:85143873C>G	ENST00000539556.1	-	2	369	c.214G>C	c.(214-216)Gct>Cct	p.A72P		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	21	17	0	96	72										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						AGGTCCTCAGCGAAGCCCCTC	0.667000													1	1	1	1	1	1	1.000000	26	20	0	101	0	0	0	0	0	101	5
CYB5D2	124936	broad.mit.edu	37	17	4058097	4058097	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:4058097C>T	ENST00000301391.3	+	3	1021	c.521C>T	c.(520-522)cCg>cTg	p.P174L	CYB5D2_ENST00000575251.1_Missense_Mutation_p.P62L|CYB5D2_ENST00000573984.1_Missense_Mutation_p.P62L|CYB5D2_ENST00000575411.2_3'UTR	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	34	2	0	59	174					nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						ACATTCCCGCCGTGCAACGCG	0.612000													1	1	1	1	1	1	1.000000	37	2	0	64	1	1	9	3	0	64	5
TP53	7157	broad.mit.edu	37	17	7578443	7578443	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:7578443A>G	ENST00000420246.2	-	5	619	c.487T>C	c.(487-489)Tac>Cac	p.Y163H	TP53_ENST00000269305.4_Missense_Mutation_p.Y163H|TP53_ENST00000445888.2_Missense_Mutation_p.Y163H|TP53_ENST00000455263.2_Missense_Mutation_p.Y163H|TP53_ENST00000359597.4_Missense_Mutation_p.Y163H|TP53_ENST00000413465.2_Missense_Mutation_p.Y163H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	43	2	0	101	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GACTGCTTGTAGATGGCCATG	0.622000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	45	2	0	106	1	1	92	7	0	106	5
CNTNAP1	8506	broad.mit.edu	37	17	40839788	40839788	+	Silent	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:40839788C>T	ENST00000264638.4	+	8	1312	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	66	5	0	156	365					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTATCAACTTCGGAGGCCCTC	0.617000													1	1	1	1	1	1	1.000000	68	5	0	170	1	9.999999e-01	5	5	0	170	5
NME1	4830	broad.mit.edu	37	17	49237345	49237345	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:49237345C>T	ENST00000511355.1	+	3	217	c.131C>T	c.(130-132)tCc>tTc	p.S44F	NME1_ENST00000480143.1_Missense_Mutation_p.S69F|NME2_ENST00000393193.2_Missense_Mutation_p.S44F|NME1_ENST00000393196.3_Missense_Mutation_p.S44F|NME2_ENST00000376392.6_Missense_Mutation_p.S44F|NME1_ENST00000336097.3_Missense_Mutation_p.S69F|NME1_ENST00000013034.3_Missense_Mutation_p.S69F|NME2_ENST00000555572.1_Missense_Mutation_p.S69F					NME/NM23 nucleoside diphosphate kinase 1	59	152	0	125											endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAATAGGCTTCCGAAGATCTT	0.463000													1	1	1	1	1	1	1.000000	64	166	0	134	1	1	385	715	0	134	5
CLTC	1213	broad.mit.edu	37	17	57721745	57721745	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:57721745G>A	ENST00000269122.3	+	2	425	c.151G>A	c.(151-153)Gta>Ata	p.V51I	CLTC_ENST00000393043.1_Missense_Mutation_p.V51I|CLTC_ENST00000579456.1_Missense_Mutation_p.V51I	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	16	94	0	56	51	Globular terminal domain.				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)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGCCCAGGTGGTAATCATTGA	0.443000			T	ALK, TFE3	ALCL, renal								1	1	1	0	1	1	0.999997	20	98	0	58	1	1	3	171	0	58	4
CD300A	11314	broad.mit.edu	37	17	72473654	72473654	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:72473654C>T	ENST00000360141.3	+	4	901	c.613C>T	c.(613-615)Cag>Tag	p.Q205*	CD300A_ENST00000577511.1_Nonsense_Mutation_p.Q75*|CD300A_ENST00000392625.3_Nonsense_Mutation_p.Q92*|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Nonsense_Mutation_p.Q92*	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	21	55	0	57	205					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GAGGATGTTTCAGAAATGGAT	0.597000													1	1	1	1	1	1	1.000000	23	61	0	67	0	7.998460e-01	0	10	0	67	5
FASN	2194	broad.mit.edu	37	17	80040213	80040213	+	Silent	SNP	G	G	T			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:80040213G>T	ENST00000306749.2	-	35	6215	c.5997C>A	c.(5995-5997)acC>acA	p.T1999T	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	18	57	0	44	1999	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(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	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)	CCAGGTTCAGGGTGCCGCTGT	0.632000													1	1	1	1	1	1	0.999992	18	63	0	44	1	1	65	133	0	44	5
UBA2	10054	broad.mit.edu	37	19	34936017	34936017	+	Silent	SNP	T	T	C			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr19:34936017T>C	ENST00000439527.2	+	8	972	c.474T>C	c.(472-474)ctT>ctC	p.L158L	UBA2_ENST00000246548.4_Silent_p.L254L			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	35	33	0	70	254					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CAGTTAAACTTTTTACCAAGG	0.328000													1	1	1	1	1	1	1.000000	37	35	0	74	1	1	116	136	0	74	5
TNMD	64102	broad.mit.edu	37	X	99852508	99852508	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chrX:99852508A>G	ENST00000373031.4	+	5	648	c.431A>G	c.(430-432)gAa>gGa	p.E144G	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	20	19	0	59	144	BRICHOS.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CAGAATGAAGAAATTACCACA	0.358000													1	1	1	1	1	1	1.000000	23	21	0	63	0	5.319149e-01	0	3	0	63	5
RASGRF2	5924	broad.mit.edu	37	5	80390692	80390693	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr5:80390692_80390693delGT	ENST00000265080.4	+	12	1703_1704	c.1636_1637delGT	c.(1636-1638)gfs	p.V546fs		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	30	42	0	62	546	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			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		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)		TTCTGGGCAAGTGTTTGGGCAC	0.436000													1	1	1	1	0	1	1.000000	30	72	0	62	0	9.084249e-02	0	2	0	62	4
LGR5	8549	broad.mit.edu	37	12	71918250	71918250	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr12:71918250delA	ENST00000266674.5	+	3	660	c.349delA	c.(349-351)aafs	p.K117fs	LGR5_ENST00000540815.2_Frame_Shift_Del_p.K117fs|LGR5_ENST00000536515.1_Frame_Shift_Del_p.K117fs			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	9	65	0	78	117						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTACAGTCTTAAAGTTCTGTA	0.408000													1	0	1	1	0	1	0.995086	9	74	0	80	0	8.303264e-01	0	29	0	80	3
STAT3	6774	broad.mit.edu	37	17	40489876	40489876	+	Splice_Site	DEL	C	C	-			TCGA-N6-A4V9-01A-11D-A28R-08	TCGA-N6-A4V9-10A-01D-A28U-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b58d961d-5aed-46f1-8661-c451574c842d	edefaab7-d004-4ab1-9049-42511bbefe5f	g.chr17:40489876delC	ENST00000264657.5	-	7	863		c.e7-1		STAT3_ENST00000585517.1_Splice_Site|STAT3_ENST00000389272.3_Splice_Site|STAT3_ENST00000404395.3_Splice_Site|STAT3_ENST00000588969.1_Splice_Site	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	21	2	0	43						cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TCTTGCATGTCTGCGAAGGAA	0.507000									Hyperimmunoglobulin E Recurrent Infection Syndrome				1	1	1	1	0	1	1.000000	21	24	0	44	1	9.949242e-01	2	12	0	44	4
EPS15	2060	broad.mit.edu	37	1	51826976	51826976	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:51826976T>C	ENST00000371733.3	-	24	2507	c.2411A>G	c.(2410-2412)gAt>gGt	p.D804G	EPS15_ENST00000371730.2_Missense_Mutation_p.D670G|EPS15_ENST00000396122.4_Missense_Mutation_p.D481G	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	10	83	0	65	804	15 X 3 AA repeats of D-P-F.|Pro-rich.				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	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CTGAAATGGATCATTCAGTTT	0.368000			T	MLL	ALL								1	1	1	1	1	1	0.999316	12	88	0	75	1	9.900484e-01	3	58	0	75	5
LPHN2	23266	broad.mit.edu	37	1	82416095	82416095	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:82416095C>G	ENST00000370728.1	+	9	2066	c.1421C>G	c.(1420-1422)tCc>tGc	p.S474C	LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.S474C|LPHN2_ENST00000319517.6_Missense_Mutation_p.S474C|LPHN2_ENST00000370717.2_Missense_Mutation_p.S474C|LPHN2_ENST00000370715.1_Missense_Mutation_p.S474C|LPHN2_ENST00000335786.5_Missense_Mutation_p.S474C|LPHN2_ENST00000370721.1_Missense_Mutation_p.S412C|LPHN2_ENST00000394879.1_Missense_Mutation_p.S474C|LPHN2_ENST00000359929.3_Missense_Mutation_p.S474C|LPHN2_ENST00000370727.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370730.1_Missense_Mutation_p.S474C|LPHN2_ENST00000271029.4_Missense_Mutation_p.S474C|LPHN2_ENST00000370725.1_Missense_Mutation_p.S474C|LPHN2_ENST00000370723.1_Missense_Mutation_p.S474C			O95490	LPHN2_HUMAN	latrophilin 2	35	26	0	70	474					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GCATTAGACTCCAAGGGGATA	0.428000													1	1	1	1	1	1	1.000000	39	28	0	76	1	1	30	22	0	76	5
PKN2	5586	broad.mit.edu	37	1	89279373	89279373	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:89279373A>G	ENST00000370521.3	+	16	2595	c.2236A>G	c.(2236-2238)Atg>Gtg	p.M746V	PKN2_ENST00000370513.5_Missense_Mutation_p.M698V|PKN2_ENST00000544045.1_Missense_Mutation_p.M420V|PKN2_ENST00000370505.3_Missense_Mutation_p.M589V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	39	103	0	108	746	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGGGGACCTAATGATGCACAT	0.403000													1	1	1	1	1	1	1.000000	49	115	0	122	1	9.087091e-01	6	6	0	122	5
LRIF1	55791	broad.mit.edu	37	1	111490764	111490764	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:111490764A>T	ENST00000369763.4	-	4	2517	c.2127T>A	c.(2125-2127)aaT>aaA	p.N709K	LRIF1_ENST00000485275.2_Missense_Mutation_p.N173K|LRIF1_ENST00000494675.1_Missense_Mutation_p.N173K|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	35	103	0	96	709					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CTGCATTTGAATTCAAAGTGC	0.378000													1	1	1	1	1	1	1.000000	38	108	0	100	0	9.995856e-01	0	38	0	100	5
PAQR6	79957	broad.mit.edu	37	1	156213861	156213861	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:156213861C>T	ENST00000335852.1	-	7	1462	c.847G>A	c.(847-849)Gag>Aag	p.E283K	PAQR6_ENST00000368270.1_3'UTR|PAQR6_ENST00000540423.1_3'UTR|PAQR6_ENST00000356983.2_Missense_Mutation_p.E283K|PAQR6_ENST00000292291.5_3'UTR|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000360733.2_Missense_Mutation_p.E283K	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	88	130	0	134	290						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					AATCTGGGCTCCTCGTCAGCA	0.652000													1	1	1	1	1	1	1.000000	94	142	0	139	1	9.936101e-01	6	9	0	139	5
FAM129A	116496	broad.mit.edu	37	1	184765126	184765126	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:184765126C>G	ENST00000367511.3	-	14	1965	c.1772G>C	c.(1771-1773)gGg>gCg	p.G591A	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	72	78	0	114	591					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTGGTTTGACCCTGTGGGGGG	0.498000													1	1	1	1	1	1	1.000000	78	87	0	122	1	9.886566e-01	7	4	0	122	5
ACTN2	88	broad.mit.edu	37	1	236906280	236906280	+	Missense_Mutation	SNP	C	C	T	rs148189507		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:236906280C>T	ENST00000366578.4	+	11	1358	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R398C|ACTN2_ENST00000546208.1_5'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	31	57	0	69	398					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			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	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)			GAGACTGGAGCGCTTGGAACA	0.522000													1	1	1	1	1	1	1.000000	32	64	0	70	0	0	0	0	0	70	5
OR2T3	343173	broad.mit.edu	37	1	248637452	248637452	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr1:248637452G>A	ENST00000359594.2	+	1	826	c.801G>A	c.(799-801)ccG>ccA	p.P267P		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	50	318	0	258	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			ACATGCTCCCGAGTTCCTACC	0.547000													1	1	1	1	0	1	1.000000	98	346	0	268	0	0	0	0	0	268	4
MSH6	2956	broad.mit.edu	37	2	48018140	48018140	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr2:48018140A>G	ENST00000234420.4	+	2	487	c.335A>G	c.(334-336)aAc>aGc	p.N112S	MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	60	90	0	88	112	PWWP.				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	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGTTTACAACCACCCCTTT	0.473000			Mis, N, F, S		colorectal	colorectal, endometrial, ovarian		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				1	1	1	1	1	1	1.000000	64	96	0	93	1	9.999988e-01	18	19	0	93	5
TTN	7273	broad.mit.edu	37	2	179449409	179449409	+	Silent	SNP	C	C	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr2:179449409C>A	ENST00000589042.1	-	310	65183	c.64959G>T	c.(64957-64959)gcG>gcT	p.A21653A	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.A12588A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.A20012A|TTN_ENST00000342175.6_Silent_p.A12780A|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Silent_p.A19085A|TTN_ENST00000359218.5_Silent_p.A12713A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	67	230	0	213	20012	Fibronectin type-III 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A19083A(1)|p.A12588A(1)|p.A19085A(1)|p.A12780A(1)|p.A12713A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGAACTGCGCAACCATCT	0.433000													1	1	1	1	1	1	1.000000	73	254	0	229	0	5.111909e-02	0	2	0	229	5
ZNF662	389114	broad.mit.edu	37	3	42956577	42956577	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr3:42956577G>A	ENST00000541208.1	+	5	1381	c.1012G>A	c.(1012-1014)Ggg>Agg	p.G338R	ZNF662_ENST00000440367.2_Missense_Mutation_p.G338R|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.G364R|ZNF662_ENST00000422021.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	37	11	0	71	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TAAGGACTGTGGGAAGGGCTT	0.488000													1	1	1	1	1	1	1.000000	38	12	0	77	1	9.974245e-01	3	1	0	77	5
IGSF10	285313	broad.mit.edu	37	3	151166217	151166217	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr3:151166217T>C	ENST00000282466.3	-	4	1551	c.1552A>G	c.(1552-1554)Aga>Gga	p.R518G		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	52	247	0	161	518	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAAGGGGCTCTCACTTTACTT	0.498000													1	1	1	1	1	1	1.000000	58	273	0	176	0	0	0	0	0	176	5
ZAR1	326340	broad.mit.edu	37	4	48492843	48492843	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:48492843G>A	ENST00000327939.4	+	1	575	c.535G>A	c.(535-537)Gtc>Atc	p.V179I		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	9	1	0	12	179					multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity			endometrium(1)|large_intestine(4)	5						CCCGCGCACCGTCGCCGTGTA	0.761000													0	1	1	1	0	1	0.999818	10	2	0	13	0	0	0	0	0	13	3
CEP135	9662	broad.mit.edu	37	4	56847395	56847395	+	Silent	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:56847395T>C	ENST00000257287.4	+	13	1753	c.1629T>C	c.(1627-1629)gcT>gcC	p.A543A		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	23	30	0	62	543					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCTTTAAGGCTCAGGAAGAAT	0.318000													1	1	1	1	0	1	1.000000	25	36	0	67	0	1.741071e-01	1	1	0	67	4
FBXW7	0	broad.mit.edu	37	4	153247303	153247303	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr4:153247303T>C	ENST00000281708.4	-	10	2728	c.1499A>G	c.(1498-1500)cAt>cGt	p.H500R	FBXW7_ENST00000296555.5_Missense_Mutation_p.H382R|FBXW7_ENST00000263981.5_Missense_Mutation_p.H420R|FBXW7_ENST00000603548.1_Missense_Mutation_p.H500R|FBXW7_ENST00000603841.1_Missense_Mutation_p.H500R|FBXW7_ENST00000393956.3_Missense_Mutation_p.H324R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	68	65	0	108	500					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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCTGCAACATGACCCATCAA	0.463000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	74	67	0	114	1	9.971549e-01	5	7	0	114	5
GABRB2	0	broad.mit.edu	37	5	160721270	160721270	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr5:160721270G>A	ENST00000274547.2	-	11	1574	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	GABRB2_ENST00000393959.1_Nonsense_Mutation_p.R453*|GABRB2_ENST00000517547.1_Nonsense_Mutation_p.R255*|GABRB2_ENST00000517901.1_Nonsense_Mutation_p.R352*|GABRB2_ENST00000520240.1_Nonsense_Mutation_p.R415*|GABRB2_ENST00000353437.6_Nonsense_Mutation_p.R415*	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	47	48	0	82	453					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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	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)	AGAGCATTTCGGCCAAAACTA	0.532000													1	1	1	1	1	1	1.000000	50	50	0	82	0	0	0	0	0	82	5
OR2V1	26693	broad.mit.edu	37	5	180551776	180551776	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr5:180551776G>T	ENST00000329365.2	-	1	528	c.529C>A	c.(529-531)Cac>Aac	p.H177N		NM_001258283.1	NP_001245212.1			olfactory receptor, family 2, subfamily V, member 1	7	13	0	21											lung(4)	4						CAGAAAAAGTGATCCACGCTC	0.498000													1	0	0	1	0	1	0.987544	7	13	0	21	0	0	0	0	0	21	2
DSP	1832	broad.mit.edu	37	6	7585589	7585589	+	Silent	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:7585589C>T	ENST00000379802.3	+	24	8435	c.8094C>T	c.(8092-8094)ttC>ttT	p.F2698F	DSP_ENST00000418664.2_Silent_p.F2099F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	65	243	0	273	2698	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCATAGGCTTCGAGGGTGTGA	0.557000													1	1	1	1	1	1	1.000000	72	253	0	287	1	1	137	450	0	287	5
PTCHD4	442213	broad.mit.edu	37	6	47847369	47847369	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:47847369A>T	ENST00000339488.4	-	3	1244	c.1211T>A	c.(1210-1212)aTc>aAc	p.I404N		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	6	45	0	55	404						integral to membrane	hedgehog receptor activity										ACAGCAAAAGATGCTGTGGTA	0.468000													1	1	1	1	1	1	0.968011	6	47	0	55	0	0	0	0	0	55	5
LPA	4018	broad.mit.edu	37	6	160977179	160977179	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr6:160977179G>A	ENST00000447678.1	-	31	4971	c.4851C>T	c.(4849-4851)taC>taT	p.Y1617Y	LPA_ENST00000316300.5_Silent_p.Y1617Y	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	36	77	0	109	4125	Kringle 15.				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			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		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)	CATTACCATGGTAGCACTGCC	0.468000													1	1	1	1	1	1	1.000000	37	84	0	119	0	0	0	0	0	119	5
THSD7A	221981	broad.mit.edu	37	7	11676068	11676068	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr7:11676068C>G	ENST00000423059.3	-	2	962	c.711G>C	c.(709-711)gaG>gaC	p.E237D		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	13	16	0	39	237	TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACACCTGGAACTCCGTCAGGT	0.657000										HNSCC(18;0.044)			1	1	1	1	1	1	0.999890	13	16	0	39	0	2.116935e-01	0	2	0	39	5
KRIT1	889	broad.mit.edu	37	7	91851246	91851246	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr7:91851246A>T	ENST00000394507.1	-	15	2316	c.1533T>A	c.(1531-1533)gaT>gaA	p.D511E	KRIT1_ENST00000340022.2_Missense_Mutation_p.D511E|KRIT1_ENST00000412043.2_Missense_Mutation_p.D511E|KRIT1_ENST00000394505.2_Missense_Mutation_p.D511E|KRIT1_ENST00000394503.2_Missense_Mutation_p.D463E	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	3	21	0	29	511	FERM.|Required for RAP1A binding.				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			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	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)			GAAGTCTCACATCTCTTCTTA	0.368000													0	0	1	0	0	1	0.812891	3	22	0	29	1	6.129827e-01	3	12	0	29	1
EXOSC3	51010	broad.mit.edu	37	9	37785000	37785000	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr9:37785000G>A	ENST00000327304.5	-	1	54	c.42C>T	c.(40-42)ggC>ggT	p.G14G	RP11-613M10.9_ENST00000540557.1_Intron|EXOSC3_ENST00000396521.3_Silent_p.G14G	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	29	2	0	26	14					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		GCGCCCTGCTGCCCGCGAGAG	0.682000													1	1	1	1	1	1	1.000000	38	2	0	31	1	1	61	6	0	31	5
FCN1	2219	broad.mit.edu	37	9	137808192	137808192	+	Splice_Site	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr9:137808192A>G	ENST00000371806.3	-	2	309		c.e2+1			NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	17	238	0	213						opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCCCGCACCTACCTCTCTCTC	0.657000													1	1	1	1	0	1	0.999996	20	260	0	228	0	0	0	0	0	228	4
NHLRC2	374354	broad.mit.edu	37	10	115663478	115663478	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr10:115663478A>G	ENST00000369301.3	+	9	1899	c.1687A>G	c.(1687-1689)Act>Gct	p.T563A		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	82	74	0	106	563					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GGATTTAGAAACTAAAATGGT	0.308000													1	1	1	1	1	1	1.000000	89	75	0	109	0	7.454091e-01	0	4	0	109	5
MTCH2	23788	broad.mit.edu	37	11	47652148	47652148	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr11:47652148T>C	ENST00000302503.3	-	8	655	c.498A>G	c.(496-498)atA>atG	p.I166M	MTCH2_ENST00000542981.1_Missense_Mutation_p.I18M	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	3	61	0	50	166					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						AGATGGTTATTATGGAATCAC	0.328000													0	0	1	0	0	1	0.812547	3	68	0	53	1	9.942999e-01	21	277	0	53	1
PACS1	55690	broad.mit.edu	37	11	66002813	66002813	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr11:66002813G>A	ENST00000320580.4	+	18	2179	c.2146G>A	c.(2146-2148)Ggg>Agg	p.G716R	PACS1_ENST00000529757.1_Missense_Mutation_p.G252R	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	38	6	0	63	716					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GTACGTCAACGGGGCAGCCAC	0.532000													1	1	1	1	1	1	1.000000	43	7	0	76	1	1	40	14	0	76	5
SLCO1B3	28234	broad.mit.edu	37	12	21032378	21032378	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:21032378A>C	ENST00000381545.3	+	11	1363	c.1144A>C	c.(1144-1146)Acc>Ccc	p.T382P	LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.T382P|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T382P|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T382P	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	6	46	0	23	382					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			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGGAATCATAACCATTCCTAC	0.269000													1	1	1	1	0	1	0.990952	8	56	0	26	0	0	0	0	0	26	4
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	5	18	0	17	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			1	1	1	1	1	1	0.971721	6	19	0	17	1	8.356135e-01	7	6	0	17	5
SMARCC2	6601	broad.mit.edu	37	12	56563467	56563467	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:56563467T>C	ENST00000394023.3	-	25	2666	c.2561A>G	c.(2560-2562)aAg>aGg	p.K854R	SMARCC2_ENST00000550164.1_Missense_Mutation_p.K854R|SMARCC2_ENST00000267064.4_Missense_Mutation_p.K823R|SMARCC2_ENST00000347471.4_Missense_Mutation_p.K854R|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	22	42	0	49	823	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			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ctccttctccttctcAGGATC	0.592000													1	1	1	1	1	1	1.000000	23	43	0	50	1	1	38	77	0	50	5
ZFC3H1	196441	broad.mit.edu	37	12	72030371	72030371	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr12:72030371T>A	ENST00000378743.3	-	9	2357	c.1999A>T	c.(1999-2001)Aga>Tga	p.R667*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	16	82	0	80	667					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGATTGCTTCTTGGCACAGGA	0.418000													1	1	1	1	1	1	0.999995	19	89	0	88	0	5.577593e-01	0	10	0	88	5
FANCM	57697	broad.mit.edu	37	14	45623210	45623210	+	Silent	SNP	A	A	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr14:45623210A>C	ENST00000267430.5	+	6	1223	c.1138A>C	c.(1138-1140)Aga>Cga	p.R380R	FANCM_ENST00000542564.2_Silent_p.R354R|FANCM_ENST00000556036.1_Silent_p.R380R	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	49	11	0	62	380					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATGGGAATGAGATCATTATA	0.294000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				1	1	1	1	1	1	1.000000	50	11	0	64	0	0	0	0	0	64	5
ASPHD1	253982	broad.mit.edu	37	16	29917116	29917116	+	Silent	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:29917116C>T	ENST00000308748.5	+	3	1323	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P	ASPHD1_ENST00000483405.1_Silent_p.P76P	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	19	54	0	63	357					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			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TAGGCTCCCCCGAAGATGGGC	0.572000													1	1	1	1	1	1	1.000000	23	62	0	74	1	9.952833e-01	5	22	0	74	5
SETD1A	9739	broad.mit.edu	37	16	30977316	30977316	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:30977316G>A	ENST00000262519.8	+	8	2800	c.2114G>A	c.(2113-2115)gGc>gAc	p.G705D		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	40	134	0	136	705					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			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCCTCAGCTGGCCCCCCCGGT	0.642000													1	1	1	1	0	1	1.000000	47	147	0	143	1	8.540444e-01	5	8	0	143	4
IRX6	79190	broad.mit.edu	37	16	55362678	55362678	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:55362678A>G	ENST00000290552.7	+	5	2120	c.788A>G	c.(787-789)gAg>gGg	p.E263G	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	29	35	0	69	263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						gaggaagaggaggaggaggag	0.627000													1	1	1	1	1	1	1.000000	30	37	0	71	0	4.252296e-01	1	2	0	71	5
LDHD	197257	broad.mit.edu	37	16	75149480	75149480	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr16:75149480G>C	ENST00000300051.4	-	2	197	c.151C>G	c.(151-153)Cga>Gga	p.R51G	LDHD_ENST00000450168.2_Missense_Mutation_p.R51G	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	7	34	0	29	51							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						TGCTGCTCTCGGACCACCGCG	0.652000													1	1	1	1	1	1	0.995711	9	40	0	34	0	0	0	1	0	34	5
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:7577568C>T	ENST00000420246.2	-	7	845	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000269305.4_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	74	11	0	49	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (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 -> 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.572000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	83	12	0	55	1	1	278	22	0	55	5
DNAH2	146754	broad.mit.edu	37	17	7689631	7689631	+	Missense_Mutation	SNP	G	G	A	rs139080127		TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:7689631G>A	ENST00000572933.1	+	40	7779	c.6319G>A	c.(6319-6321)Gcc>Acc	p.A2107T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A2107T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	15	48	0	47	2107	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTGTGCCGCGCCGGAGACCC	0.597000													1	0	1	1	1	1	0.999993	18	53	0	51	0	7.034432e-02	1	1	0	51	4
WNT9B	7484	broad.mit.edu	37	17	44953961	44953961	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:44953961G>A	ENST00000290015.2	+	4	1004	c.951G>A	c.(949-951)ggG>ggA	p.G317G	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	81	11	0	90	317					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			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TGTGCTGCGGGCGGGGCTATG	0.662000													1	1	1	1	1	1	1.000000	82	13	0	90	0	0	1	0	0	90	5
SPOP	8405	broad.mit.edu	37	17	47696408	47696408	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:47696408T>C	ENST00000393331.3	-	7	885	c.415A>G	c.(415-417)Aga>Gga	p.R139G	SPOP_ENST00000504102.1_Missense_Mutation_p.R139G|SPOP_ENST00000503676.1_Missense_Mutation_p.R139G|SPOP_ENST00000393328.2_Missense_Mutation_p.R139G|SPOP_ENST00000347630.2_Missense_Mutation_p.R139G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	132	25	0	135	139	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AGAAAATCTCTACGGATGAAT	0.463000										Prostate(2;0.17)			1	1	1	1	1	1	1.000000	152	30	0	150	1	1	54	6	0	150	5
SPOP	8405	broad.mit.edu	37	17	47699375	47699375	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr17:47699375G>A	ENST00000393331.3	-	5	603	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	SPOP_ENST00000504102.1_Missense_Mutation_p.R45W|SPOP_ENST00000503676.1_Missense_Mutation_p.R45W|SPOP_ENST00000393328.2_Missense_Mutation_p.R45W|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000347630.2_Missense_Mutation_p.R45W	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	30	5	0	47	45	MATH.				mRNA processing	nucleus	protein binding	p.R45W(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						ATTTCCTCCCGGCAAAAGCTA	0.358000										Prostate(2;0.17)			1	1	1	1	1	1	1.000000	31	7	0	52	1	1	53	6	0	52	5
SALL3	27164	broad.mit.edu	37	18	76752234	76752234	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr18:76752234C>G	ENST00000575389.2	+	2	243	c.243C>G	c.(241-243)atC>atG	p.I81M	SALL3_ENST00000537592.2_Missense_Mutation_p.I81M|SALL3_ENST00000536229.3_5'UTR			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	5	25	0	21	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		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)		CCGTGCTGATCGTGCACGAGG	0.711000													1	1	1	1	0	1	0.992231	8	28	0	24	0	0	0	0	0	24	4
DOCK6	57572	broad.mit.edu	37	19	11327692	11327692	+	Silent	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr19:11327692G>A	ENST00000294618.7	-	30	3803	c.3792C>T	c.(3790-3792)acC>acT	p.T1264T	DOCK6_ENST00000319867.7_Silent_p.T603T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	22	60	0	75	1264					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCGCCGGCTCGGTGTTTTTCA	0.612000													1	1	1	1	1	1	1.000000	24	60	0	82	1	9.999885e-01	13	41	0	82	5
ZNF99	7652	broad.mit.edu	37	19	22939890	22939890	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr19:22939890G>A	ENST00000397104.3	-	6	2440	c.2441C>T	c.(2440-2442)tCc>tTc	p.S814F						zinc finger protein 99	35	37	0	71											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGGTTGAGGAATTGTTAAA	0.383000													1	1	1	1	1	1	1.000000	39	42	0	80	0	0	0	0	0	80	5
VN1R2	317701	broad.mit.edu	37	19	53762414	53762414	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr19:53762414T>A	ENST00000341702.3	+	1	870	c.786T>A	c.(784-786)taT>taA	p.Y262*		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	79	21	0	122	262					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AGTCAGTATATGCAGCATTGA	0.448000													1	1	1	1	1	1	1.000000	84	25	0	134	0	0	0	0	0	134	5
FOXA2	3170	broad.mit.edu	37	20	22563665	22563665	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr20:22563665G>T	ENST00000419308.2	-	2	399	c.197C>A	c.(196-198)tCg>tAg	p.S66*	FOXA2_ENST00000319993.4_Nonsense_Mutation_p.S72*|FOXA2_ENST00000377115.4_Nonsense_Mutation_p.S66*	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	62	41	0	82	66	Transactivation domain 1 (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			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CACGTACGACGACATGTTCAT	0.731000													1	1	1	1	0	1	1.000000	67	45	0	87	1	1	95	20	0	87	4
DSCAM	1826	broad.mit.edu	37	21	41648105	41648105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr21:41648105C>A	ENST00000400454.1	-	11	2752	c.2275G>T	c.(2275-2277)Gaa>Taa	p.E759*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	23	23	0	78	759	Ig-like C2-type 8.				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			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCACTGTCTTCCTCCACGACA	0.517000													1	1	1	1	1	1	1.000000	24	25	0	80	0	0	0	0	0	80	5
KLHDC7B	113730	broad.mit.edu	37	22	50988123	50988123	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr22:50988123C>T	ENST00000395676.2	+	1	1662	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	10	67	0	100	510										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		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)		CGCCGTGATGCGCTACAACAC	0.692000													1	1	1	1	0	1	0.998693	11	78	0	110	0	1.863354e-02	0	2	0	110	4
MID1	0	broad.mit.edu	37	X	10417566	10417566	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:10417566C>T	ENST00000317552.4	-	10	2246	c.1846G>A	c.(1846-1848)Gcc>Acc	p.A616T	MID1_ENST00000479925.1_5'UTR|MID1_ENST00000453318.2_Missense_Mutation_p.A616T|MID1_ENST00000380779.1_Missense_Mutation_p.A616T|MID1_ENST00000380780.1_Missense_Mutation_p.A616T|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380785.1_Missense_Mutation_p.A616T|MID1_ENST00000380787.1_Missense_Mutation_p.A616T	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	94	88	0	200	616	B30.2/SPRY.				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			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCATAAAAGGCGATAGAGCCG	0.547000													1	1	1	1	1	1	1.000000	105	97	0	222	0	9.999624e-01	0	19	0	222	5
HCCS	3052	broad.mit.edu	37	X	11139870	11139870	+	Silent	SNP	A	A	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:11139870A>G	ENST00000321143.4	+	7	949	c.747A>G	c.(745-747)ttA>ttG	p.L249L	HCCS_ENST00000380763.3_Silent_p.L249L|ARHGAP6_ENST00000534860.1_Intron|HCCS_ENST00000380762.4_Silent_p.L249L	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	5	62	0	49	249					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						GTCCTGCCTTAGATTCACTTT	0.433000													0	1	1	0	0	1	0.939877	5	66	0	50	0	5.414873e-01	0	23	0	50	2
FAM47C	442444	broad.mit.edu	37	X	37028481	37028481	+	Silent	SNP	C	C	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:37028481C>A	ENST00000358047.3	+	1	2050	c.1998C>A	c.(1996-1998)ctC>ctA	p.L666L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	12	104	0	172	666										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTCCAGTCTCCCCCCGGAGC	0.637000													1	1	1	1	0	1	0.999271	12	114	0	152	0	0	0	0	0	152	4
SLC38A5	92745	broad.mit.edu	37	X	48317963	48317963	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:48317963G>T	ENST00000376876.3	-	15	2119	c.1276C>A	c.(1276-1278)Ccc>Acc	p.P426T	SLC38A5_ENST00000480105.1_5'UTR|SLC38A5_ENST00000317669.5_Missense_Mutation_p.P426T|SLC38A5_ENST00000376875.1_Missense_Mutation_p.P375T			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	6	16	0	19	426					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						ACCTCAGAGGGTACAATGCGG	0.567000													1	0	1	1	1	1	0.993471	8	17	0	20	0	5.279941e-01	0	5	0	20	4
AMER1	139285	broad.mit.edu	37	X	63410192	63410192	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:63410192G>A	ENST00000330258.3	-	2	3247	c.2975C>T	c.(2974-2976)gCa>gTa	p.A992V	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1	10	38	0	37									p.0?(67)									GCAACAGGTTGCCTGCCTATA	0.572000													1	1	1	1	1	1	0.997850	10	41	0	38	0	0	0	1	0	38	5
TAF1	6872	broad.mit.edu	37	X	70607293	70607293	+	Silent	SNP	T	T	C			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:70607293T>C	ENST00000449580.1	+	15	2457	c.2406T>C	c.(2404-2406)caT>caC	p.H802H	TAF1_ENST00000373790.4_Silent_p.H802H|TAF1_ENST00000276072.3_Silent_p.H823H|TAF1_ENST00000423759.1_Silent_p.H823H			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	9	77	0	79	802					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			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCAATACGCATATTCGAGACT	0.488000													1	1	1	1	1	1	0.995005	9	82	0	84	0	3.328292e-01	0	11	0	84	5
ABCB7	22	broad.mit.edu	37	X	74334628	74334628	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:74334628C>A	ENST00000253577.3	-	2	234	c.210G>T	c.(208-210)ttG>ttT	p.L70F	ABCB7_ENST00000373394.3_Missense_Mutation_p.L69F|ABCB7_ENST00000339447.4_Missense_Mutation_p.L69F	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	5	21	0	28	69					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TGCCTTTTCCCAATCTCTGCC	0.378000													1	0	1	1	1	1	0.944039	5	22	0	34	0	7.294869e-01	0	13	0	34	4
KLHL4	0	broad.mit.edu	37	X	86888868	86888868	+	Missense_Mutation	SNP	T	T	G			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chrX:86888868T>G	ENST00000373119.4	+	8	1814	c.1669T>G	c.(1669-1671)Tca>Gca	p.S557A	KLHL4_ENST00000373114.4_Missense_Mutation_p.S557A	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	4	54	0	66	557						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AGCCAGTATGTCAACTCCTAG	0.423000													1	0	1	1	0	1	0.967416	6	59	0	69	0	0	0	0	0	69	3
CEP68	23177	broad.mit.edu	37	2	65299631	65299631	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr2:65299631delG	ENST00000377990.2	+	3	1604	c.1401delG	c.(1399-1401)gafs	p.E467fs	CEP68_ENST00000537589.1_Frame_Shift_Del_p.E79fs|CEP68_ENST00000546106.1_Frame_Shift_Del_p.E467fs|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Frame_Shift_Del_p.E467fs	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	26	100	0	67	467					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCTGCACAGAGTCTAGGTGGA	0.592000													1	1	1	1	0	1	1.000000	26	130	0	69	0	8.449006e-01	1	18	0	69	4
FAM188B	84182	broad.mit.edu	37	7	30811153	30811153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VC-01A-11D-A28R-08	TCGA-N6-A4VC-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3fadc22-cfbf-4cba-957e-5a792cafcd32	1e474ebc-3552-4fb7-8ee8-8d0df5c67f3b	g.chr7:30811153delG	ENST00000265299.6	+	1	121	c.44delG	c.(43-45)agfs	p.R15fs	INMT-FAM188B_ENST00000458257.1_Intron	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	10	1	0	21	15										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTTGGTCAGGGAGTTCCTC	0.642000													1	1	0	1	0	1	0.998992	10	11	0	21	1	8.923871e-01	3	4	0	21	3
SLC6A9	6536	broad.mit.edu	37	1	44474144	44474144	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:44474144G>A	ENST00000372310.3	-	5	636	c.471C>T	c.(469-471)gcC>gcT	p.A157A	SLC6A9_ENST00000360584.2_Silent_p.A230A|SLC6A9_ENST00000475075.2_Silent_p.A46A|SLC6A9_ENST00000372307.3_Silent_p.A92A|SLC6A9_ENST00000357730.2_Silent_p.A176A|SLC6A9_ENST00000537678.1_Silent_p.A92A|SLC6A9_ENST00000372306.3_Silent_p.A157A	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	34	58	0	118	230						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A230A(1)|p.A157A(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCAGTACACCGGCGCAGTCAT	0.607000													1	1	1	1	1	1	1.000000	38	66	0	131	1	9.993236e-01	12	12	0	131	5
PLK3	1263	broad.mit.edu	37	1	45268952	45268952	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:45268952G>A	ENST00000372201.4	+	8	1200	c.961G>A	c.(961-963)Gat>Aat	p.D321N	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	29	45	0	106	321						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTACACCCCCGATCGACTCCC	0.577000													1	1	1	1	1	1	1.000000	33	52	0	113	1	9.999434e-01	12	17	0	113	5
C1orf168	199920	broad.mit.edu	37	1	57206384	57206384	+	Silent	SNP	C	C	T	rs140363025		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:57206384C>T	ENST00000343433.6	-	13	1769	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	7	13	0	20	563										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGTTTTCTTTCGACTTGGTTT	0.363000													1	0	1	1	0	1	0.986905	7	15	0	23	1	7.029885e-01	6	1	0	23	3
FCRL4	83417	broad.mit.edu	37	1	157551320	157551320	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:157551320C>T	ENST00000271532.1	-	7	1385		c.e7+1		FCRL4_ENST00000448509.2_Splice_Site	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	24	29	0	71							integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGAGCACAAACCTGACTTCCT	0.597000													1	1	1	1	1	1	1.000000	28	32	0	79	0	0	0	0	0	79	5
SPTA1	6708	broad.mit.edu	37	1	158618428	158618428	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:158618428C>T	ENST00000368148.3	-	26	3765	c.3585G>A	c.(3583-3585)acG>acA	p.T1195T	SPTA1_ENST00000368147.3_Silent_p.T1195T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	37	39	0	108	1195					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			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTGCTCCTTCGTGTCATCTG	0.498000													1	1	1	1	1	1	1.000000	37	40	0	118	0	0	0	0	0	118	5
RPS6KC1	26750	broad.mit.edu	37	1	213302876	213302876	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:213302876C>T	ENST00000366960.3	+	6	629	c.479C>T	c.(478-480)tCc>tTc	p.S160F	RPS6KC1_ENST00000366959.3_Missense_Mutation_p.S148F|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Intron|RPS6KC1_ENST00000543470.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	21	43	0	113	160					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTAGGCTTCTCCAGTGACAGT	0.333000													1	1	1	1	1	1	1.000000	27	48	0	126	1	9.674623e-01	3	10	0	126	5
FMN2	56776	broad.mit.edu	37	1	240371620	240371620	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:240371620G>A	ENST00000319653.9	+	5	3738	c.3508G>A	c.(3508-3510)Gga>Aga	p.G1170R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	6	15	0	29	1170	FH1.|Pro-rich.				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			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGCGGGCAT	0.692000													0	1	1	1	0	1	0.993636	8	16	0	24	0	0	0	0	0	24	3
TPO	7173	broad.mit.edu	37	2	1457506	1457506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:1457506C>T	ENST00000345913.4	+	6	614	c.523C>T	c.(523-525)Cga>Tga	p.R175*	TPO_ENST00000337415.3_Nonsense_Mutation_p.R175*|TPO_ENST00000329066.4_Nonsense_Mutation_p.R175*|TPO_ENST00000382198.1_Nonsense_Mutation_p.R175*|TPO_ENST00000382201.3_Nonsense_Mutation_p.R175*|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Nonsense_Mutation_p.R175*|TPO_ENST00000346956.3_Nonsense_Mutation_p.R175*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	31	40	0	98	175					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			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	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)	GGCCCTGGCACGATGGCTCCC	0.602000													1	1	1	1	1	1	1.000000	35	40	0	102	0	0	0	0	0	102	5
APOB	338	broad.mit.edu	37	2	21245884	21245884	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:21245884C>T	ENST00000233242.1	-	18	2762	c.2635G>A	c.(2635-2637)Gtg>Atg	p.V879M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	25	43	0	103	879					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			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCCACAGACACGGAGGGTTTT	0.478000													1	1	1	1	1	1	1.000000	27	49	0	116	0	0	0	0	0	116	5
APOB	338	broad.mit.edu	37	2	21256329	21256329	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:21256329G>A	ENST00000233242.1	-	9	1093	c.966C>T	c.(964-966)gcC>gcT	p.A322A	APOB_ENST00000399256.4_Silent_p.A322A	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	39	52	0	179	322	Vitellogenin.				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			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAACAGCTTCGGCCTGCTTTG	0.438000													1	1	1	1	1	1	1.000000	43	61	0	202	0	0	0	0	0	202	5
REG3G	130120	broad.mit.edu	37	2	79254978	79254978	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:79254978G>A	ENST00000272324.5	+	5	563	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	REG3G_ENST00000393897.2_Missense_Mutation_p.V127M|REG3G_ENST00000409471.1_Missense_Mutation_p.V81M	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	47	73	0	186	127	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TAGCACTGATGTGATGAATTA	0.498000													1	1	1	1	1	1	1.000000	48	77	0	195	0	0	0	0	0	195	5
AFF3	3899	broad.mit.edu	37	2	100266099	100266099	+	Silent	SNP	A	A	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:100266099A>T	ENST00000317233.4	-	12	1408	c.1173T>A	c.(1171-1173)gcT>gcA	p.A391A	AFF3_ENST00000409579.1_Silent_p.A416A|AFF3_ENST00000356421.2_Silent_p.A416A|AFF3_ENST00000409236.1_Silent_p.A391A	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	19	59	0	114	391					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGTCAGAGAGAGCGCGGAGAG	0.368000													1	1	1	1	1	1	0.999996	19	68	0	129	0	0	0	0	0	129	5
AFF3	3899	broad.mit.edu	37	2	100266101	100266101	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:100266101C>T	ENST00000317233.4	-	12	1406	c.1171G>A	c.(1171-1173)Gct>Act	p.A391T	AFF3_ENST00000409579.1_Missense_Mutation_p.A416T|AFF3_ENST00000356421.2_Missense_Mutation_p.A416T|AFF3_ENST00000409236.1_Missense_Mutation_p.A391T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	18	60	0	116	391					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCAGAGAGAGCGCGGAGAGCC	0.363000													1	1	1	1	0	1	0.999991	18	70	0	130	0	0	0	0	0	130	4
CCDC148	130940	broad.mit.edu	37	2	159215037	159215037	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:159215037T>C	ENST00000283233.5	-	2	384	c.71A>G	c.(70-72)tAc>tGc	p.Y24C	CCDC148_ENST00000409889.1_Missense_Mutation_p.Y24C|CCDC148_ENST00000536771.1_Intron|CCDC148_ENST00000409187.1_Missense_Mutation_p.Y33C	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	10	14	0	36	24										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TACTGGTTTGTACTTGATGTT	0.328000													1	1	1	1	1	1	0.998784	10	14	0	37	1	6.822029e-01	3	2	0	37	5
PHOSPHO2	493911	broad.mit.edu	37	2	170557640	170557640	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:170557640G>A	ENST00000359744.3	+	4	547	c.159G>A	c.(157-159)aaG>aaA	p.K53K	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	30	32	0	79	53							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						GAGTCTTTAAGTATTTGGGAG	0.383000													1	1	1	1	1	1	1.000000	32	35	0	88	1	9.999996e-01	16	18	0	88	5
GMPPA	29926	broad.mit.edu	37	2	220370460	220370460	+	Missense_Mutation	SNP	G	G	A	rs151043830		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:220370460G>A	ENST00000358215.3	+	10	1246	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373908.1_Missense_Mutation_p.A293T|GMPPA_ENST00000373917.3_Missense_Mutation_p.A346T|GMPPA_ENST00000313597.5_Missense_Mutation_p.A293T|GMPPA_ENST00000341142.3_Missense_Mutation_p.A293T	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	18	27	0	42	293					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			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		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)		CCACCCGACCGCCAAGGTGGC	0.607000													1	1	1	1	1	1	0.999999	20	32	0	47	1	1	48	57	0	47	5
C2orf54	79919	broad.mit.edu	37	2	241829466	241829466	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr2:241829466G>A	ENST00000307486.8	-	3	501	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	C2orf54_ENST00000402775.2_Missense_Mutation_p.R116C|C2orf54_ENST00000388934.4_Missense_Mutation_p.R284C			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	20	37	0	78	284										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCACTGTCACGCCAGCTCTCG	0.662000													1	1	1	1	1	1	1.000000	22	40	0	86	1	9.730978e-01	6	8	0	86	5
ALS2CL	259173	broad.mit.edu	37	3	46713390	46713390	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr3:46713390C>T	ENST00000318962.4	-	24	2751	c.2668G>A	c.(2668-2670)Gtg>Atg	p.V890M	ALS2CL_ENST00000415953.1_Missense_Mutation_p.V890M|ALS2CL_ENST00000383742.3_Missense_Mutation_p.V237M	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	15	24	0	41	890	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CGCGACACCACGTAGATGAGA	0.627000													1	1	1	1	1	1	0.999965	15	26	0	44	1	9.992036e-01	8	19	0	44	5
ITIH3	3699	broad.mit.edu	37	3	52833799	52833799	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr3:52833799G>A	ENST00000449956.2	+	9	943	c.937G>A	c.(937-939)Gat>Aat	p.D313N	ITIH3_ENST00000416872.2_Missense_Mutation_p.D313N|ITIH3_ENST00000465243.2_3'UTR	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	5	15	0	41	313	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				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)		AATCCTGGAAGATATGCAAGA	0.537000													1	0	1	1	1	1	0.946083	5	16	0	43	0	0	0	0	0	43	4
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	44	9	0	88	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(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	47	9	0	95	1	1	40	6	0	95	5
TBC1D1	23216	broad.mit.edu	37	4	38138875	38138875	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr4:38138875G>A	ENST00000261439.4	+	20	3781	c.3426G>A	c.(3424-3426)acG>acA	p.T1142T	TBC1D1_ENST00000508802.1_Silent_p.T1133T|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	29	27	0	85	1142						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TGCTGCAGACGGTGGAGGAGC	0.642000													1	1	1	1	1	1	1.000000	31	28	0	88	1	1	106	109	0	88	5
FBXW7	0	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	21	27	0	89	479					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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	24	31	0	91	1	9.831980e-01	8	4	0	91	5
DCP2	167227	broad.mit.edu	37	5	112312615	112312615	+	Translation_Start_Site	SNP	G	G	A	rs2416298		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:112312615G>A	ENST00000543319.1	+	0	137				DCP2_ENST00000515408.1_De_novo_Start_InFrame|DCP2_ENST00000389063.2_De_novo_Start_InFrame|DCP2_ENST00000504961.1_3'UTR			Q8IU60	DCP2_HUMAN	decapping mRNA 2	52	86	0	256						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|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		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)		CACTGTTCCTGCTGTGGGTCC	0.682000													1	0	1	1	1	1	1.000000	55	98	0	289	1	9.928322e-01	6	11	0	289	4
PCDHA2	0	broad.mit.edu	37	5	140176114	140176114	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:140176114C>T	ENST00000526136.1	+	1	1565	c.1565C>T	c.(1564-1566)cCg>cTg	p.P522L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.P522L|PCDHA2_ENST00000520672.2_Missense_Mutation_p.P522L|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1				149	114	0	305											NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCTGCAGCCGCTGGACCAC	0.687000													1	1	1	1	0	1	1.000000	163	123	0	297	0	0	0	0	0	297	4
PCDHB5	0	broad.mit.edu	37	5	140515028	140515028	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:140515028G>A	ENST00000231134.5	+	1	229	c.12G>A	c.(10-12)gcG>gcA	p.A4A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		24	57	0	86	4					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGAGACTGCGCTAGCAAAAA	0.463000													1	1	1	1	1	1	1.000000	26	66	0	91	1	9.959078e-01	14	12	0	91	5
PDGFRB	5159	broad.mit.edu	37	5	149497300	149497300	+	Silent	SNP	G	G	A	rs2229559		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:149497300G>A	ENST00000261799.4	-	22	3487	c.3018C>T	c.(3016-3018)tcC>tcT	p.S1006S		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	24	47	0	94	1006					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			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		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)	TATAGAGGACGGAGCTGGTGT	0.617000			T	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP	MPD, AML, CMML, CML								1	1	1	1	1	1	1.000000	26	50	0	100	0	9.983655e-01	1	23	0	100	5
STK10	6793	broad.mit.edu	37	5	171509417	171509417	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr5:171509417G>A	ENST00000176763.5	-	12	2245	c.1902C>T	c.(1900-1902)cgC>cgT	p.R634R		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	50	104	0	150	634							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	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)			CCTCCCGGCGGCGCACGGCAT	0.552000													1	1	1	1	1	1	1.000000	55	113	0	157	1	9.994017e-01	8	19	0	157	5
PRL	5617	broad.mit.edu	37	6	22290511	22290511	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:22290511C>T	ENST00000306482.1	-	4	902	c.384G>A	c.(382-384)acG>acA	p.T128T	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	29	40	0	87	128					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			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CACGTACTTCCGTGACCAGAT	0.463000													1	1	1	1	1	1	1.000000	32	43	0	96	0	0	0	1	0	96	5
HIST1H2AL	8332	broad.mit.edu	37	6	27833147	27833147	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:27833147C>T	ENST00000357320.2	+	1	114	c.15C>T	c.(13-15)ggC>ggT	p.G5G		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	45	76	0	193	5					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						CGGGACGCGGCAAGCAGGGAG	0.587000													1	1	1	1	1	1	1.000000	52	85	0	211	1	1.470709e-01	2	0	0	211	5
GSTA3	2940	broad.mit.edu	37	6	52762720	52762720	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:52762720C>A	ENST00000211122.3	-	6	514	c.449G>T	c.(448-450)gGc>gTc	p.G150V	GSTA3_ENST00000370968.1_Missense_Mutation_p.G100V	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	58	66	0	179	150	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	CAGCTTGTTGCCAACAAGGTA	0.517000													1	1	1	1	1	1	1.000000	62	70	0	191	1	1	18	24	0	191	5
CCR6	1235	broad.mit.edu	37	6	167550589	167550589	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:167550589G>A	ENST00000341935.5	+	3	1423	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	CCR6_ENST00000400926.2_Missense_Mutation_p.E291K|CCR6_ENST00000349984.4_Missense_Mutation_p.E291K	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	35	66	0	126	291					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		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)		CTGCCAGAGCGAAAAGCTAAT	0.483000													1	1	1	1	1	1	1.000000	36	73	0	145	0	2.612200e-01	0	3	0	145	5
CHST12	55501	broad.mit.edu	37	7	2473140	2473140	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:2473140G>A	ENST00000258711.6	+	2	1001	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	35	35	0	148	289					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GCCTCGGCGCGCGAGGCCTTC	0.652000													1	1	1	1	1	1	1.000000	40	58	0	153	1	1	43	51	0	153	5
HERPUD2	64224	broad.mit.edu	37	7	35674870	35674870	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:35674870G>T	ENST00000396081.1	-	6	1620	c.816C>A	c.(814-816)ttC>ttA	p.F272L	HERPUD2_ENST00000311350.3_Missense_Mutation_p.F272L|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	37	46	0	140	272					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AGTCTCGATTGAAGTCTTCTT	0.438000													1	1	1	1	1	1	1.000000	39	51	0	147	1	9.998980e-01	5	19	0	147	5
CD36	948	broad.mit.edu	37	7	80290415	80290415	+	Silent	SNP	C	C	T	rs146796766		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:80290415C>T	ENST00000435819.1	+	8	1002	c.318C>T	c.(316-318)gaC>gaT	p.D106D	CD36_ENST00000534394.1_Silent_p.D30D|CD36_ENST00000538969.1_Silent_p.D106D|CD36_ENST00000394788.3_Silent_p.D106D|CD36_ENST00000309881.7_Silent_p.D106D|CD36_ENST00000544133.1_Silent_p.D106D|CD36_ENST00000432207.1_Silent_p.D106D|CD36_ENST00000447544.2_Silent_p.D106D|CD36_ENST00000433696.2_Silent_p.D106D			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	18	43	0	85	106	Required for interaction with thrombospondins, THBS1 and THBS2.				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			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TAACCCAGGACGCTGAGGACA	0.408000													1	0	1	1	1	1	1.000000	24	46	0	90	0	1.236682e-01	0	2	0	90	4
KIAA1324L	222223	broad.mit.edu	37	7	86542401	86542401	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:86542401C>T	ENST00000450689.2	-	14	2036	c.1851G>A	c.(1849-1851)tcG>tcA	p.S617S	KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000297222.6_Silent_p.S377S|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Silent_p.S450S	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	14	25	0	68	617						integral to membrane		p.S377S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					AGGGGACACACGATGAACCCG	0.522000													1	1	1	1	1	1	0.999961	15	29	0	76	1	9.991348e-01	17	11	0	76	5
CALCR	799	broad.mit.edu	37	7	93065414	93065414	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:93065414C>T	ENST00000359558.2	-	14	1400	c.1101G>A	c.(1099-1101)gcG>gcA	p.A367A	CALCR_ENST00000426151.1_Silent_p.A333A|CALCR_ENST00000360249.4_Silent_p.A349A|CALCR_ENST00000394441.1_Silent_p.A333A|CALCR_ENST00000421592.1_Silent_p.A349A	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	12	23	0	56	349					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 receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	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)	TGTGGGATTCCGCCTCATGGG	0.478000													1	1	1	1	1	1	0.999637	12	24	0	58	0	0	0	1	0	58	5
ZNF655	79027	broad.mit.edu	37	7	99171161	99171161	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:99171161C>T	ENST00000424881.1	+	4	1755	c.1535C>T	c.(1534-1536)gCa>gTa	p.A512V	ZNF655_ENST00000394163.2_Missense_Mutation_p.A477V|ZNF655_ENST00000252713.4_Missense_Mutation_p.A477V|ZNF655_ENST00000493277.1_Missense_Mutation_p.A512V|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	34	50	0	104	477					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AGTCAGAGAGCACATCTAGTT	0.393000													1	1	1	1	1	1	1.000000	35	52	0	111	1	9.999996e-01	22	22	0	111	5
FBXO24	26261	broad.mit.edu	37	7	100187923	100187923	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:100187923C>T	ENST00000241071.6	+	3	587	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Missense_Mutation_p.R89C|FBXO24_ENST00000427939.2_Missense_Mutation_p.R127C|FBXO24_ENST00000468962.1_Missense_Mutation_p.R77C|FBXO24_ENST00000465843.1_Missense_Mutation_p.R89C	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	22	22	0	55	89						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTCAGTCCGCGCCTCCAAGA	0.602000													1	1	1	1	1	1	1.000000	23	25	0	64	1	9.974783e-01	9	5	0	64	5
EXOC4	60412	broad.mit.edu	37	7	133692545	133692545	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr7:133692545A>G	ENST00000253861.4	+	17	2673	c.2644A>G	c.(2644-2646)Acc>Gcc	p.T882A	EXOC4_ENST00000539845.1_Missense_Mutation_p.T781A|EXOC4_ENST00000545148.1_Missense_Mutation_p.T492A|EXOC4_ENST00000541309.1_Missense_Mutation_p.T170A	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	14	26	0	41	882					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GCAGAATTTGACCAACATCAC	0.473000													1	1	1	1	1	1	0.999981	16	31	0	46	1	1	42	44	0	46	5
RP1L1	94137	broad.mit.edu	37	8	10467031	10467031	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:10467031G>A	ENST00000382483.3	-	4	4800	c.4577C>T	c.(4576-4578)aCg>aTg	p.T1526M		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	29	42	0	98	1526					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCCTTCTCCGTCTTCTTCAG	0.662000													1	1	1	1	1	1	1.000000	31	47	0	113	0	0	0	0	0	113	5
NRG1	3084	broad.mit.edu	37	8	32505335	32505335	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:32505335G>A	ENST00000520502.2	+	1	99	c.99G>A	c.(97-99)ccG>ccA	p.P33P	NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287840.5_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	18	34	0	70	0					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	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ATGGGCTTCCGGCAGCAGAAG	0.622000													1	1	1	1	1	1	0.999998	19	35	0	70	0	0	0	0	0	70	5
PLEKHA2	59339	broad.mit.edu	37	8	38775463	38775463	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:38775463C>T	ENST00000420274.1	+	2	250	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	PLEKHA2_ENST00000521746.1_Missense_Mutation_p.R6W|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	24	25	0	68	6					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TTATGTGGATCGGCAGAACCG	0.562000													1	1	1	1	1	1	1.000000	28	30	0	75	1	9.794337e-01	6	4	0	75	5
ZFHX4	79776	broad.mit.edu	37	8	77766792	77766792	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:77766792G>A	ENST00000521891.2	+	10	8083	c.7635G>A	c.(7633-7635)ccG>ccA	p.P2545P	ZFHX4_ENST00000455469.2_Silent_p.P2500P|ZFHX4_ENST00000518282.1_Silent_p.P2519P|ZFHX4_ENST00000050961.6_Silent_p.P2500P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	46	84	0	154	2500						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P2529P(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCAACAATCCGCTGATGACTG	0.537000										HNSCC(33;0.089)			1	1	1	1	1	1	1.000000	50	88	0	166	0	0	1	0	0	166	5
KCNS2	3788	broad.mit.edu	37	8	99441462	99441462	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:99441462C>T	ENST00000287042.4	+	2	1605	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	KCNS2_ENST00000521839.1_Missense_Mutation_p.R419C	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	47	101	0	199	419						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R419C(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTTTTACCGGCGCCAAAAGCA	0.512000													1	1	1	1	1	1	1.000000	53	108	0	211	0	0	0	0	0	211	5
CSMD3	114788	broad.mit.edu	37	8	113254010	113254010	+	Silent	SNP	A	A	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr8:113254010A>G	ENST00000297405.5	-	66	10651	c.10407T>C	c.(10405-10407)ggT>ggC	p.G3469G	CSMD3_ENST00000455883.2_Silent_p.G3300G|CSMD3_ENST00000352409.3_Silent_p.G3399G|CSMD3_ENST00000343508.3_Silent_p.G3429G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	26	47	0	106	3469						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATTTTAGAACCAGCTATGA	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			1	1	1	1	1	1	1.000000	29	49	0	109	0	0	0	0	0	109	5
SLC28A3	64078	broad.mit.edu	37	9	86894919	86894919	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr9:86894919A>G	ENST00000376238.4	-	16	1848	c.1799T>C	c.(1798-1800)gTg>gCg	p.V600A	SLC28A3_ENST00000537648.1_Missense_Mutation_p.V531A|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	11	23	0	58	600					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAAGCAGGCCACGGTCCCCGC	0.587000													1	1	1	1	1	1	0.999910	14	30	0	66	1	9.999854e-01	16	39	0	66	5
EBLN1	340900	broad.mit.edu	37	10	22498260	22498260	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:22498260G>A	ENST00000422359.2	-	1	690	c.653C>T	c.(652-654)gCg>gTg	p.A218V		NM_001199938.1	NP_001186867.1			endogenous Bornavirus-like nucleoprotein 1	8	13	0	37																		TAGCTCGCACGCAGGGGATTC	0.433000													1	0	0	1	0	1	0.994215	8	13	0	38	0	0	0	0	0	38	2
KIAA1217	56243	broad.mit.edu	37	10	24810839	24810839	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:24810839G>A	ENST00000376451.2	+	7	1746	c.1486G>A	c.(1486-1488)Gtc>Atc	p.V496I	KIAA1217_ENST00000376452.3_Missense_Mutation_p.V778I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.V496I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V778I|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000307544.6_Missense_Mutation_p.V496I|KIAA1217_ENST00000376462.1_Missense_Mutation_p.V733I|KIAA1217_ENST00000396446.1_Missense_Mutation_p.V496I|KIAA1217_ENST00000376454.3_Missense_Mutation_p.V813I			Q5T5P2	SKT_HUMAN	KIAA1217	29	35	0	75	813					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CATGACAGACGTCCTGACCAT	0.632000													1	1	1	1	1	1	1.000000	30	36	0	79	1	9.999999e-01	20	23	0	79	5
PTEN	5728	broad.mit.edu	37	10	89692980	89692980	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:89692980A>G	ENST00000371953.3	+	5	1821	c.464A>G	c.(463-465)tAt>tGt	p.Y155C		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	42	3	0	95	155	Phosphatase tensin-type.		Y -> C (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).		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.0?(37)|p.Y155C(7)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		CTAGATTTCTATGGGGAAGTA	0.373000		31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	1	1	1	1	1	1.000000	43	3	0	96	0	0	0	0	0	96	5
PLEKHS1	79949	broad.mit.edu	37	10	115540379	115540379	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:115540379G>A	ENST00000354462.3	+	6	594	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	PLEKHS1_ENST00000369312.4_Missense_Mutation_p.G314S|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.G230S|PLEKHS1_ENST00000361048.1_3'UTR					pleckstrin homology domain containing, family S member 1	20	33	0	69																		GCTTACCATCGGCAGGATCCC	0.403000													1	0	1	1	1	1	1.000000	22	38	0	77	1	1	46	52	0	77	4
ADAM12	8038	broad.mit.edu	37	10	127724804	127724804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:127724804G>A	ENST00000368679.4	-	21	2758	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*		NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	31	44	0	105	817					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	p.R817*(2)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		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)		GGAAGCACTCGCTGAGTTGAC	0.597000													1	1	1	1	1	1	1.000000	36	45	0	116	0	2.016638e-01	0	2	0	116	5
OR52I2	143502	broad.mit.edu	37	11	4608812	4608812	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:4608812G>A	ENST00000312614.4	+	1	792	c.770G>A	c.(769-771)gGt>gAt	p.G257D		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	42	69	0	222	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		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)		GCAGTATTTGGTCTCTCCTCA	0.473000													0	0	1	0	1	1	1.000000	42	72	0	227	0	0	0	0	0	227	2
MRGPRX3	117195	broad.mit.edu	37	11	18159005	18159005	+	Missense_Mutation	SNP	C	C	T	rs141255495		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:18159005C>T	ENST00000396275.2	+	3	617	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	45	67	0	166	86						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTCGCCGTTACGCCTCATCAA	0.547000													1	1	1	1	1	1	1.000000	45	67	0	170	0	0	0	0	0	170	5
OR4C6	219432	broad.mit.edu	37	11	55432696	55432696	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:55432696C>G	ENST00000314259.3	+	1	83	c.54C>G	c.(52-54)aaC>aaG	p.N18K		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	33	50	0	115	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCACAGAGAACCTGGAGCTGT	0.383000													1	1	1	1	1	1	1.000000	35	51	0	125	0	0	0	0	0	125	5
CDC42EP2	10435	broad.mit.edu	37	11	65088659	65088659	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:65088659C>T	ENST00000544348.1	+	2	896	c.290C>T	c.(289-291)cCg>cTg	p.P97L	CDC42EP2_ENST00000533419.1_Missense_Mutation_p.P97L|CDC42EP2_ENST00000279249.2_Missense_Mutation_p.P97L			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	29	44	0	101	97					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			lung(1)	1						CGGGAGCTCCCGGACGGCCCA	0.682000													1	1	1	1	1	1	1.000000	31	47	0	109	1	9.998227e-01	8	18	0	109	5
KIRREL3	84623	broad.mit.edu	37	11	126306737	126306737	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:126306737G>A	ENST00000525144.2	-	12	1770	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	KIRREL3_ENST00000529097.2_Silent_p.S507S|KIRREL3_ENST00000525704.2_Silent_p.S507S|KIRREL3_ENST00000416561.2_5'UTR	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	16	22	0	66	507	Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.S466S(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	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)		TCTCAGTGTCGGAGCCGAAGC	0.607000													1	1	1	1	1	1	0.999993	17	26	0	72	1	9.992208e-01	11	13	0	72	5
ADCY6	112	broad.mit.edu	37	12	49169177	49169177	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:49169177C>T	ENST00000307885.4	-	10	2583	c.1889G>A	c.(1888-1890)cGt>cAt	p.R630H	ADCY6_ENST00000357869.3_Missense_Mutation_p.R630H|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Missense_Mutation_p.R630H	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	35	37	0	102	630					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			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ATCGATGGCACGGCTCAGGAA	0.587000													1	1	1	1	1	1	1.000000	36	40	0	114	1	1	13	30	0	114	5
ARHGEF25	115557	broad.mit.edu	37	12	58009072	58009072	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:58009072C>T	ENST00000286494.4	+	11	1473	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.T377M	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	16	33	0	76	338					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GATATGATGACGCTGGGGAGA	0.562000													1	1	1	1	1	1	0.999999	20	36	0	88	1	1	37	35	0	88	5
FGD6	55785	broad.mit.edu	37	12	95531317	95531317	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:95531317G>A	ENST00000343958.4	-	7	3198	c.2975C>T	c.(2974-2976)gCt>gTt	p.A992V	FGD6_ENST00000549499.1_Missense_Mutation_p.A992V|FGD6_ENST00000546711.1_Missense_Mutation_p.A992V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	21	33	0	88	992	DH.			A -> T (in Ref. 2; AAH13319).	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			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCTAACAACAGCAGCAAAACC	0.328000													1	1	1	1	1	1	1.000000	25	35	0	100	0	8.987682e-01	1	7	0	100	5
CDX2	1045	broad.mit.edu	37	13	28537414	28537414	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr13:28537414C>T	ENST00000381020.7	-	3	2912	c.780G>A	c.(778-780)ccG>ccA	p.P260P	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	25	23	0	65	260	Poly-Pro.				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|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;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GCGGCGGAGGCGGCTGTGGTG	0.567000			T	ETV6	AML								1	1	1	1	0	1	1.000000	25	25	0	68	0	0	0	0	0	68	4
FLT1	2321	broad.mit.edu	37	13	28896990	28896990	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr13:28896990C>T	ENST00000282397.4	-	21	3141	c.2890G>A	c.(2890-2892)Gaa>Aaa	p.E964K	FLT1_ENST00000540678.1_Missense_Mutation_p.E182K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	40	75	0	162	964	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			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	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)	GCAAAGCTTTCGCTGCTGGTG	0.478000													1	1	1	1	1	1	1.000000	42	78	0	171	0	8.259435e-01	0	8	0	171	5
SMOC1	64093	broad.mit.edu	37	14	70346406	70346406	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr14:70346406C>A	ENST00000381280.4	+	1	264	c.11C>A	c.(10-12)gCg>gAg	p.A4E	SMOC1_ENST00000361956.3_Missense_Mutation_p.A4E|SMOC1_ENST00000555917.1_Intron	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	6	3	0	9	4					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		ATGCTGCCCGCGCGCTGCGCC	0.751000													0	0	1	1	0	1	0.985116	6	3	0	9	0	8.251748e-01	1	3	0	9	2
TMEM62	80021	broad.mit.edu	37	15	43441229	43441229	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr15:43441229C>T	ENST00000260403.2	+	7	1025	c.746C>T	c.(745-747)tCg>tTg	p.S249L		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	27	30	0	81	249						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		TTGGTTAGTTCGGCTATAGCT	0.408000													1	1	1	1	1	1	1.000000	29	32	0	83	1	9.998899e-01	7	15	0	83	5
BFAR	51283	broad.mit.edu	37	16	14743799	14743799	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:14743799G>A	ENST00000261658.2	+	4	884	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	BFAR_ENST00000563971.1_Intron|BFAR_ENST00000426842.2_Missense_Mutation_p.E75K	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	17	33	0	107	203	SAM.				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TCTTTACAGGGAAAGGTTTTT	0.493000													1	1	1	1	1	1	0.999996	18	35	0	117	1	1	59	71	0	117	5
EXOC3L1	283849	broad.mit.edu	37	16	67219060	67219060	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:67219060G>A	ENST00000314586.6	-	11	1968	c.1728C>T	c.(1726-1728)cgC>cgT	p.R576R		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	51	53	0	103	576					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GGTTCCGCACGCGCCAGAAGT	0.677000													1	1	1	1	1	1	1.000000	54	56	0	111	1	9.998579e-01	7	11	0	111	5
ACSF3	197322	broad.mit.edu	37	16	89167646	89167646	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:89167646C>T	ENST00000317447.4	+	3	934	c.557C>T	c.(556-558)cCg>cTg	p.P186L	ACSF3_ENST00000378345.4_Intron|ACSF3_ENST00000406948.3_Missense_Mutation_p.P186L	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	9	7	0	27	186					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCAGAGGTCCCGGTCCCAGAG	0.642000													1	1	1	1	1	1	0.998328	9	7	0	28	1	9.999996e-01	29	22	0	28	5
SPIRE2	84501	broad.mit.edu	37	16	89922602	89922602	+	Silent	SNP	C	C	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr16:89922602C>A	ENST00000378247.3	+	7	1103	c.1060C>A	c.(1060-1062)Cgg>Agg	p.R354R	SPIRE2_ENST00000393062.2_Silent_p.R354R	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	7	11	0	20	354	WH2 3.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CAAGCAGGAGCGGAGGCTGCG	0.682000													1	1	1	1	0	1	0.988321	7	11	0	21	1	9.999864e-01	35	30	0	21	4
MPRIP	23164	broad.mit.edu	37	17	17078626	17078626	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:17078626C>T	ENST00000395811.5	+	19	2698	c.2609C>T	c.(2608-2610)gCt>gTt	p.A870V	MPRIP_ENST00000341712.4_Missense_Mutation_p.A870V|RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.A832V|MPRIP_ENST00000395804.3_Missense_Mutation_p.A870V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	7	46	0	90	870	Interaction with PPP1R12A.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AACCGCCTGGCTGCAGAGATC	0.622000													1	1	1	1	1	1	0.991190	8	48	0	96	0	0	0	0	0	96	5
RHBDL3	162494	broad.mit.edu	37	17	30611720	30611720	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:30611720C>T	ENST00000269051.4	+	3	192	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	RHBDL3_ENST00000538145.1_Missense_Mutation_p.R52W|RHBDL3_ENST00000536287.1_Intron	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	21	31	0	68	60	EF-hand 1.				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				AGGCAAGTTCCGGAGTCTTCT	0.592000													1	1	1	1	1	1	1.000000	22	34	0	72	1	9.114226e-01	2	7	0	72	5
STAT3	6774	broad.mit.edu	37	17	40481653	40481653	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:40481653A>C	ENST00000264657.5	-	13	1464	c.1152T>G	c.(1150-1152)ttT>ttG	p.F384L	STAT3_ENST00000588969.1_Missense_Mutation_p.F384L|STAT3_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L|STAT3_ENST00000389272.3_Missense_Mutation_p.F286L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	36	39	0	102	384			F -> L (in AD-HIES).|F -> S (in AD-HIES).		cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCAGAATGTTAAATTTCCGGG	0.458000									Hyperimmunoglobulin E Recurrent Infection Syndrome				1	1	1	1	1	1	1.000000	37	40	0	105	1	1	78	103	0	105	5
NSF	4905	broad.mit.edu	37	17	44782178	44782178	+	Silent	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:44782178G>A	ENST00000398238.4	+	13	1535	c.1428G>A	c.(1426-1428)acG>acA	p.T476T	NSF_ENST00000575068.1_Silent_p.T471T|NSF_ENST00000225282.8_Silent_p.T382T	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	21	34	1	89	476			T -> M (in dbSNP:rs155733).		protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TGCAAGTGACGAGAGGAGACT	0.383000													1	0	1	1	1	1	0.999982	23	44	1	95	1	9.999736e-01	28	29	1	95	4
PGS1	9489	broad.mit.edu	37	17	76395556	76395556	+	Silent	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr17:76395556C>T	ENST00000262764.6	+	5	665	c.639C>T	c.(637-639)aaC>aaT	p.N213N	PGS1_ENST00000329897.7_Silent_p.N78N|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	38	60	0	155	213					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			AGCGCTTCAACGAGACCATCG	0.607000													1	1	1	1	1	1	1.000000	38	62	0	164	1	1	38	45	0	164	5
EPG5	57724	broad.mit.edu	37	18	43437926	43437926	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr18:43437926C>T	ENST00000282041.5	-	42	7368	c.7334G>A	c.(7333-7335)cGa>cAa	p.R2445Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	21	34	0	91	2445					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GAGCAGAATTCGAATGACAGA	0.537000													1	1	1	1	1	1	1.000000	21	34	0	92	1	9.995560e-01	15	11	0	92	5
ADAT3	113179	broad.mit.edu	37	19	1912242	1912242	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:1912242G>A	ENST00000329478.2	+	2	416	c.196G>A	c.(196-198)Gtc>Atc	p.V66I	SCAMP4_ENST00000316097.8_Intron|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000409472.1_Intron|ADAT3_ENST00000602400.1_Missense_Mutation_p.V50I			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	8	7	0	17	50					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		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)		CGCCGCGCCCGTCCTGGACAA	0.736000													1	1	1	1	0	1	0.995588	8	8	0	20	1	1	9	189	0	20	4
OCEL1	79629	broad.mit.edu	37	19	17338751	17338751	+	Silent	SNP	T	T	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:17338751T>C	ENST00000215061.4	+	4	599	c.555T>C	c.(553-555)tgT>tgC	p.C185C	OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_Silent_p.C129C|OCEL1_ENST00000601529.1_Intron	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	25	46	0	103	185										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						AGGTGGGGTGTGCACAGGCAA	0.637000													1	1	1	1	1	1	1.000000	26	48	0	109	1	1	59	63	0	109	5
AXL	558	broad.mit.edu	37	19	41743930	41743930	+	Missense_Mutation	SNP	G	G	A	rs141302305		TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:41743930G>A	ENST00000301178.4	+	7	1055	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	AXL_ENST00000593513.1_Missense_Mutation_p.V21M|AXL_ENST00000359092.3_Missense_Mutation_p.V289M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	43	67	0	166	289	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.V289M(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCAAGCATCCGTGCCCCCCCA	0.647000													1	1	1	1	1	1	1.000000	48	73	0	171	1	8.843579e-01	6	2	0	171	5
CIC	23152	broad.mit.edu	37	19	42794634	42794634	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:42794634C>T	ENST00000572681.2	+	11	4509	c.4441C>T	c.(4441-4443)Cgg>Tgg	p.R1481W	CIC_ENST00000160740.3_Missense_Mutation_p.R572W|CIC_ENST00000575354.2_Missense_Mutation_p.R572W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	35	50	0	123	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGCCCCCTACGGCCCCCACC	0.672000			Mis, F, S		oligodendroglioma								1	1	1	1	1	1	1.000000	36	52	0	124	1	1	28	40	0	124	5
PPP2R1A	5518	broad.mit.edu	37	19	52716212	52716212	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:52716212C>T	ENST00000322088.6	+	6	714	c.656C>T	c.(655-657)tCg>tTg	p.S219L	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S40L|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S164L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	22	22	0	96	219	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen 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			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCCTAGGACTCGGTGCGGCTG	0.647000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	1.000000	23	26	0	96	1	1	363	386	0	96	5
EPS8L1	54869	broad.mit.edu	37	19	55593930	55593930	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:55593930G>A	ENST00000201647.6	+	12	1230	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000588359.1_Missense_Mutation_p.E46K|EPS8L1_ENST00000586329.1_Missense_Mutation_p.E374K|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E328K|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E265K	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	6	10	0	16	392						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACGTGAAAACGAGCTCTGGAC	0.697000													0	1	1	1	0	1	0.974550	6	12	0	16	1	9.999597e-01	36	37	0	16	3
NLRP5	126206	broad.mit.edu	37	19	56569658	56569658	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr19:56569658C>T	ENST00000390649.3	+	14	3352	c.3352C>T	c.(3352-3354)Ctt>Ttt	p.L1118F		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	23	32	0	102	1118						mitochondrion|nucleolus	ATP binding	p.L1118I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTCCTTGGCCCTTTCCTGCAA	0.517000													1	1	1	1	1	1	1.000000	23	33	0	111	0	0	0	0	0	111	5
CDH26	60437	broad.mit.edu	37	20	58569315	58569315	+	Silent	SNP	G	G	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr20:58569315G>T	ENST00000348616.4	+	11	1737	c.1437G>T	c.(1435-1437)ccG>ccT	p.P479P	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244047.5_Silent_p.P479P	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	25	34	0	100	479	Cadherin 4.		P -> L (in dbSNP:rs6071067).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P479P(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GCTTCCCACCGCAGACTGCTA	0.517000													1	1	1	1	1	1	1.000000	28	40	0	109	0	1.750503e-01	1	1	0	109	5
PLXNB2	23654	broad.mit.edu	37	22	50728775	50728775	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr22:50728775G>A	ENST00000449103.1	-	3	379	c.239C>T	c.(238-240)cCg>cTg	p.P80L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P80L			O15031	PLXB2_HUMAN	plexin B2	20	6	0	63	80	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.P123L(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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)		CTCGATGGGCGGCGTGCACTT	0.652000													1	1	1	1	1	1	1.000000	23	8	0	71	1	1	84	7	0	71	5
MAGEB6	158809	broad.mit.edu	37	X	26212339	26212339	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:26212339G>A	ENST00000379034.1	+	2	525	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	48	71	0	172	126	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AAAATATGATGTGGCTGCCAA	0.557000													1	1	1	1	1	1	1.000000	54	76	0	177	0	0	0	0	0	177	5
TAB3	257397	broad.mit.edu	37	X	30872877	30872877	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:30872877G>A	ENST00000378933.1	-	3	1082	c.905C>T	c.(904-906)tCa>tTa	p.S302L	TAB3_ENST00000378932.2_Missense_Mutation_p.S302L|TAB3_ENST00000288422.2_Missense_Mutation_p.S302L|TAB3_ENST00000378930.3_Missense_Mutation_p.S302L	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	21	18	0	60	302	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			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GCTGAAGGGTGAAGGACATTG	0.488000													1	1	1	1	1	1	1.000000	21	20	0	61	0	9.841735e-01	0	10	0	61	5
SUV39H1	6839	broad.mit.edu	37	X	48558921	48558921	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:48558921A>C	ENST00000376687.3	+	3	795	c.605A>C	c.(604-606)aAg>aCg	p.K202T	SUV39H1_ENST00000337852.6_Missense_Mutation_p.K213T|SUV39H1_ENST00000453214.2_Intron|AF196970.3_ENST00000416061.1_RNA	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	22	46	0	71	202	Pre-SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCACTGCACAAGTTTGCCTAC	0.652000													1	1	1	1	1	1	1.000000	23	46	0	73	0	9.518855e-01	0	13	0	73	5
SLC35A2	7355	broad.mit.edu	37	X	48762195	48762195	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:48762195C>T	ENST00000376521.1	-	4	1312	c.991G>A	c.(991-993)Gtc>Atc	p.V331I	SLC35A2_ENST00000247138.5_Missense_Mutation_p.V331I|SLC35A2_ENST00000452555.2_Missense_Mutation_p.V359I|SLC35A2_ENST00000413561.2_Missense_Mutation_p.V270I|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000445167.2_Intron	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	10	20	0	62	331					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GCACCAATGACGAGTCCAGCG	0.612000													1	1	1	1	1	1	0.998417	10	21	0	66	0	9.999999e-01	0	121	0	66	5
RRAGB	10325	broad.mit.edu	37	X	55757849	55757849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:55757849C>T	ENST00000374941.4	+	5	935	c.346C>T	c.(346-348)Cga>Tga	p.R116*	RRAGB_ENST00000474757.1_3'UTR|RRAGB_ENST00000262850.7_Nonsense_Mutation_p.R144*	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	7	13	0	35	144					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			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						CAACATCTTCCGAAATGTGGA	0.403000													1	1	1	1	1	1	0.986905	7	15	0	35	0	9.985302e-01	0	36	0	35	5
SLC16A2	6567	broad.mit.edu	37	X	73744511	73744511	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:73744511C>A	ENST00000276033.5	+	3	1281	c.1115C>A	c.(1114-1116)aCc>aAc	p.T372N	SLC16A2_ENST00000587091.1_Missense_Mutation_p.T298N			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	39	47	0	115	298						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	GGTGTCCGCACCCTGCACCAG	0.572000													1	1	1	1	1	1	1.000000	40	52	0	130	0	9.988752e-01	0	18	0	130	5
CYLC1	1538	broad.mit.edu	37	X	83128836	83128836	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:83128836T>A	ENST00000329312.4	+	4	1157	c.1120T>A	c.(1120-1122)Tca>Aca	p.S374T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	15	14	0	23	374					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGATACTGAATCAGGAGATGC	0.323000													1	1	1	1	1	1	0.999984	15	14	0	25	0	0	0	0	0	25	5
CHM	1121	broad.mit.edu	37	X	85218875	85218875	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:85218875G>A	ENST00000357749.2	-	5	526	c.497C>T	c.(496-498)gCg>gTg	p.A166V	CHM_ENST00000467744.1_Intron|CHM_ENST00000537751.1_Missense_Mutation_p.A18V	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	30	49	0	89	166					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.A166V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TACTTCTAGCGCATTCTCTGG	0.443000													1	1	1	1	1	1	1.000000	33	53	0	94	1	9.071294e-01	5	4	0	94	5
GPRASP1	9737	broad.mit.edu	37	X	101909605	101909605	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:101909605A>C	ENST00000537097.1	+	6	1577	c.764A>C	c.(763-765)gAt>gCt	p.D255A	GPRASP1_ENST00000415986.1_Missense_Mutation_p.D255A|GPRASP1_ENST00000361600.5_Missense_Mutation_p.D255A|GPRASP1_ENST00000444152.1_Missense_Mutation_p.D255A|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	6	175	0	236	255						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGTTCTGAGGATGAGTCTGTT	0.478000													1	0	0	1	0	1	0.981199	7	186	0	250	0	0	0	0	0	250	2
RHOXF1	158800	broad.mit.edu	37	X	119249405	119249405	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:119249405C>T	ENST00000217999.2	-	1	442	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	37	51	0	129	123					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						TTGAGTGTGTCGGAAAACACT	0.577000													1	1	1	1	1	1	1.000000	41	53	0	141	0	0	0	1	0	141	5
UBE2NL	389898	broad.mit.edu	37	X	142967368	142967368	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:142967368G>C	ENST00000370494.1	+	1	196	c.166G>C	c.(166-168)Gaa>Caa	p.E56Q		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	49	79	0	195	56							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTAAACGTGAACTATTACT	0.408000													1	1	1	1	1	1	1.000000	54	87	0	212	0	0	0	0	0	212	5
AFF2	2334	broad.mit.edu	37	X	147924917	147924917	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:147924917C>A	ENST00000370460.2	+	7	1701	c.1222C>A	c.(1222-1224)Cca>Aca	p.P408T	AFF2_ENST00000342251.3_Missense_Mutation_p.P375T|AFF2_ENST00000370457.5_Missense_Mutation_p.P375T|AFF2_ENST00000370458.1_Missense_Mutation_p.P375T|AFF2_ENST00000286437.5_Missense_Mutation_p.P49T	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	23	36	0	99	408					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGAATGACCCAACCACCAG	0.388000													1	1	1	1	1	1	1.000000	25	39	0	108	0	3.455184e-01	0	3	0	108	5
PLXNB3	5365	broad.mit.edu	37	X	153039479	153039479	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:153039479C>T	ENST00000538966.1	+	21	3785	c.3514C>T	c.(3514-3516)Cgc>Tgc	p.R1172C	PLXNB3_ENST00000538776.1_Missense_Mutation_p.R802C|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R759C|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R1149C	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	15	34	0	78	1149	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	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)					GCCCAACCCCCGCCTGGCACC	0.687000													1	1	1	1	1	1	0.999952	15	36	0	82	0	3.530616e-01	0	4	0	82	5
FLNA	0	broad.mit.edu	37	X	153581007	153581007	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:153581007C>T	ENST00000422373.1	-	39	6640	c.6392G>A	c.(6391-6393)cGg>cAg	p.R2131Q	FLNA_ENST00000369850.3_Missense_Mutation_p.R2139Q|FLNA_ENST00000360319.4_Missense_Mutation_p.R2131Q|FLNA_ENST00000344736.4_Missense_Mutation_p.R2099Q|FLNA_ENST00000369856.3_Missense_Mutation_p.R272Q	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	25	37	1	75	2139					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)					CTCTTTCACCCGGCCCTCGCC	0.617000													1	0	1	1	1	1	0.999996	25	39	1	81	1	1	134	813	1	81	4
IARS2	55699	broad.mit.edu	37	1	220287663	220287664	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr1:220287663_220287664insA	ENST00000366922.1	+	12	1602_1603	c.1271_1272insA	c.(1270-1272)taafs	p.*424fs	IARS2_ENST00000302637.5_Frame_Shift_Ins_p.*496fs			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	20	54	0	102	496					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CAGGAATTGTTAAAAAAGGTGA	0.366000													1	1	1	1	0	1	0.999998	20	74	0	104	1	1	5	169	0	104	4
SOGA3	387104	broad.mit.edu	37	6	127836020	127836021	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr6:127836020_127836021delTG	ENST00000556132.1	-	3	2137_2138	c.1273_1274delCA	c.(1273-1275)gfs	p.Q425fs	SOGA3_ENST00000368268.2_Frame_Shift_Del_p.Q425fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.Q425fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.Q425fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.Q425fs	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	29	49	0	136	425						integral to membrane											TTCCCCGGTCTGGGCGTAGCGG	0.663000													1	1	1	1	0	1	1.000000	29	80	0	138	1	6.724944e-01	3	5	0	138	4
NET1	10276	broad.mit.edu	37	10	5496339	5496341	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			CTC	-	CTC	CTC		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr10:5496339_5496341delCTC	ENST00000355029.4	+	9	1022_1024	c.880_882delCTC	c.(880-882)del	p.L294del	NET1_ENST00000542715.1_In_Frame_Del_p.L113del|NET1_ENST00000380359.3_In_Frame_Del_p.L240del	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	19	25	0	54	294	DH.				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	p.L240I(1)|p.L294I(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCAGCGATGTCTCGAGTCTCCCT	0.433000													1	1	1	1	0	1	0.999997	19	44	0	54	1	9.999985e-01	3	63	0	54	4
DGKZ	8525	broad.mit.edu	37	11	46388900	46388900	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			C	-	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:46388900delC	ENST00000454345.1	+	3	913	c.788delC	c.(787-789)gcfs	p.A263fs	DGKZ_ENST00000525434.1_3'UTR|DGKZ_ENST00000318201.8_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000456247.2_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000421244.2_Frame_Shift_Del_p.A74fs|DGKZ_ENST00000395574.3_Frame_Shift_Del_p.A40fs|DGKZ_ENST00000532868.2_Frame_Shift_Del_p.A79fs|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000343674.6_Frame_Shift_Del_p.A91fs|DGKZ_ENST00000528615.1_Intron|DGKZ_ENST00000527911.1_Frame_Shift_Del_p.A74fs	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	19	29	0	55	263					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|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ACCCCTGGGGCCCCGTGCAGC	0.662000													1	1	1	1	0	1	0.999997	19	49	0	57	0	9.999257e-01	1	47	0	57	4
FTH1	2495	broad.mit.edu	37	11	61732251	61732259	+	In_Frame_Del	DEL	GCCAAGCCA	GCCAAGCCA	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			GCCAAGCCA	-	GCCAAGCCA	GCCAAGCCA		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr11:61732251_61732259delGCCAAGCCA	ENST00000273550.7	-	4	726_734	c.492_500delTGGCTTGGC	c.(490-501)tcg>tc	p.SGLA164del	FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000532601.1_In_Frame_Del_p.SGLA94del|FTH1_ENST00000526640.1_In_Frame_Del_p.SGLA134del|BEST1_ENST00000449131.2_3'UTR	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	5	28	0	86	164					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			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GAGATATTCCGCCAAGCCAGATTCGGGCG	0.517000													1	0	0	1	0	1	0.942049	5	33	0	88	1	1	12	7999	0	88	2
DCP1B	196513	broad.mit.edu	37	12	2062350	2062351	+	In_Frame_Ins	INS	-	-	TGG			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			-	TGG	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chr12:2062350_2062351insTGG	ENST00000280665.6	-	7	834_835	c.755_756insCCA	c.(754-756)cca>cCCAca	p.252_253insT	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_In_Frame_Ins_p.126_127insT|DCP1B_ENST00000397173.4_In_Frame_Ins_p.150_151insT	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	22	32	0	65	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	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAGT	0.550000													1	1	1	1	0	1	1.000000	22	54	0	66	1	9.999987e-01	7	60	0	66	4
BCORL1	63035	broad.mit.edu	37	X	129149592	129149592	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:129149592delG	ENST00000540052.1	+	3	2888	c.2844delG	c.(2842-2844)cafs	p.Q948fs	BCORL1_ENST00000218147.7_Frame_Shift_Del_p.Q948fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.Q948fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.Q948fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	36	80	0	157	948					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GAATGAATCAGGGGCCTGAGG	0.577000													1	1	1	1	0	1	1.000000	36	118	0	158	0	9.853510e-01	0	25	0	158	4
BCORL1	63035	broad.mit.edu	37	X	129190033	129190034	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-N6-A4VD-01A-11D-A28R-08	TCGA-N6-A4VD-11A-11D-A28U-08			TG	-	TG	TG		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	2d33a481-d2dd-4205-86a8-bf35b0de3a71	cda4ae33-d178-4d5d-8f91-aa585bcf4a79	g.chrX:129190033_129190034delTG	ENST00000540052.1	+	12	5102_5103	c.5058_5059delTG	c.(5056-5061)actgfs	p.TV1686fs	BCORL1_ENST00000218147.7_Frame_Shift_Del_p.TV1686fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.TV1556fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.TV1760fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	24	64	0	96	1686					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCTCTGAGACTGTGGAGCTGGT	0.619000													1	1	1	1	0	1	1.000000	24	88	0	99	1	9.999661e-01	29	38	0	99	4
YARS	8565	broad.mit.edu	37	1	33245110	33245110	+	Missense_Mutation	SNP	C	C	T	rs147005844	byFrequency	TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:33245110C>T	ENST00000373477.4	-	12	2257	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	19	29	0	83	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	p.R450H(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTCAACCTGGCGGTTTATCCC	0.557000													1	1	1	1	0	1	0.999998	19	31	0	90	1	1	35	166	0	90	4
CYP4B1	1580	broad.mit.edu	37	1	47284343	47284343	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:47284343G>C	ENST00000271153.4	+	12	1429	c.1393G>C	c.(1393-1395)Gtg>Ctg	p.V465L	CYP4B1_ENST00000452782.2_Missense_Mutation_p.V303L|CYP4B1_ENST00000371923.4_Missense_Mutation_p.V466L|CYP4B1_ENST00000371919.4_Missense_Mutation_p.V451L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	56	43	0	114	465					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGAGATGAAGGTGGTCACAGC	0.537000													1	1	1	1	1	1	1.000000	60	45	0	122	1	1	56	29	0	122	5
ZNF326	284695	broad.mit.edu	37	1	90484253	90484253	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:90484253G>A	ENST00000340281.4	+	9	1227	c.1084G>A	c.(1084-1086)Gtg>Atg	p.V362M	ZNF326_ENST00000370447.2_Missense_Mutation_p.V273M|ZNF326_ENST00000455342.2_Missense_Mutation_p.V156M	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	12	11	0	38	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GGAGTGTATGGTGAATAAATT	0.289000													1	1	1	1	1	1	0.999922	13	12	0	42	1	9.999962e-01	20	16	0	42	5
COL11A1	1301	broad.mit.edu	37	1	103470202	103470202	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:103470202G>T	ENST00000358392.2	-	19	2214	c.1897C>A	c.(1897-1899)Caa>Aaa	p.Q633K	COL11A1_ENST00000370096.3_Missense_Mutation_p.Q621K|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q582K|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q505K|COL11A1_ENST00000461720.1_5'UTR	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	4	13	0	24	621	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			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		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)		GGAGGACCTTGAGGACCTCGT	0.323000													1	0	1	1	1	1	0.946554	5	15	0	30	1	9.999343e-01	34	72	0	30	4
LYST	1130	broad.mit.edu	37	1	235972583	235972583	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr1:235972583T>C	ENST00000389794.3	-	5	1709	c.1535A>G	c.(1534-1536)cAt>cGt	p.H512R	LYST_ENST00000389793.2_Missense_Mutation_p.H512R|LYST_ENST00000536965.1_Missense_Mutation_p.H512R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	44	23	0	76	512					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			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	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)			ATCTCGGTGATGATGCATAAA	0.383000													1	1	1	1	1	1	1.000000	47	25	0	84	0	0	0	0	0	84	5
PXDN	7837	broad.mit.edu	37	2	1652949	1652949	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:1652949C>T	ENST00000252804.4	-	17	2653	c.2603G>A	c.(2602-2604)cGg>cAg	p.R868Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	17	31	0	49	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			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	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)		GCTCCTGGCCCGGGAGTCATT	0.662000													1	0	1	1	1	1	0.999991	17	34	0	54	0	8.825151e-01	0	10	0	54	4
ADAM17	6868	broad.mit.edu	37	2	9663433	9663433	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:9663433C>T	ENST00000310823.3	-	7	970	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	ADAM17_ENST00000497134.1_Missense_Mutation_p.R263Q	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	34	28	0	67	263	Peptidase M12B.				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			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TGAAGTGTTCCGATAGATGTC	0.323000													1	1	1	1	1	1	1.000000	40	33	0	76	1	9.999993e-01	16	11	0	76	5
XDH	7498	broad.mit.edu	37	2	31605884	31605884	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:31605884G>C	ENST00000379416.3	-	11	1069	c.1021C>G	c.(1021-1023)Caa>Gaa	p.Q341E	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	32	22	0	67	341	FAD-binding PCMH-type.				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			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	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)	GACTTGACTTGCTTCCCAGCA	0.557000													1	1	1	1	1	1	1.000000	37	25	0	73	0	6.369318e-01	1	2	0	73	5
EDAR	10913	broad.mit.edu	37	2	109513391	109513391	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:109513391G>C	ENST00000409271.1	-	12	1858	c.1415C>G	c.(1414-1416)cCt>cGt	p.P472R	EDAR_ENST00000376651.1_Missense_Mutation_p.P472R|EDAR_ENST00000258443.2_Missense_Mutation_p.P440R			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	12	9	0	28	440					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTGGGAGGCAGGTGGCACAAC	0.592000													1	1	1	1	1	1	0.999969	14	12	0	31	1	7.252503e-01	2	2	0	31	5
CACNB4	785	broad.mit.edu	37	2	152711818	152711818	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:152711818C>A	ENST00000360283.6	-	10	1098	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	CACNB4_ENST00000201943.5_Missense_Mutation_p.D314Y|CACNB4_ENST00000397327.2_Missense_Mutation_p.D267Y|CACNB4_ENST00000539935.1_Missense_Mutation_p.D314Y|CACNB4_ENST00000427385.1_Missense_Mutation_p.D296Y|CACNB4_ENST00000534999.1_Missense_Mutation_p.D280Y			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	5	33	0	36	314					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			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TTGATGGTGTCTGCATCAAGA	0.373000													1	0	1	1	1	1	0.941927	5	34	0	38	0	0	0	0	0	38	4
SCN7A	6332	broad.mit.edu	37	2	167289081	167289081	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:167289081T>A	ENST00000409855.1	-	15	2465	c.2339A>T	c.(2338-2340)cAt>cTt	p.H780L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	41	57	0	96	780					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTCATTTACATGGTCCATTGT	0.353000													1	1	1	1	1	1	1.000000	44	60	0	100	0	0	0	0	0	100	5
SCLY	51540	broad.mit.edu	37	2	238999914	238999914	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr2:238999914G>C	ENST00000409736.2	+	8	964	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	SCLY_ENST00000254663.6_Intron|SCLY_ENST00000555827.1_Intron|SCLY_ENST00000373332.3_Missense_Mutation_p.E232Q|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000422984.2_Intron			Q96I15	SCLY_HUMAN	selenocysteine lyase	22	86	0	143	0					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		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)		TGGTGAGCTTGAGGAGATGAG	0.478000													1	0	1	1	1	1	1.000000	24	95	0	160	1	9.607018e-01	5	19	0	160	4
CSRNP1	64651	broad.mit.edu	37	3	39185088	39185088	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:39185088C>G	ENST00000273153.5	-	5	1405	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	CSRNP1_ENST00000514182.1_Missense_Mutation_p.E410Q	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	11	49	0	52	410					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CTCCCTTCCTCCTCTTCCTCC	0.602000													1	1	1	1	1	1	0.999430	12	52	0	55	1	9.980104e-01	8	44	0	55	5
LSAMP	4045	broad.mit.edu	37	3	115805175	115805175	+	Silent	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:115805175T>C	ENST00000490035.1	-	2	883	c.384A>G	c.(382-384)gtA>gtG	p.V128V	LSAMP_ENST00000539563.1_Silent_p.V125V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	10	45	0	24	128					cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		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)		CCTTACCTTGTACGATCAAGT	0.438000													1	1	1	1	1	1	0.997751	10	47	0	25	1	8.746139e-01	5	15	0	25	5
MGLL	11343	broad.mit.edu	37	3	127439984	127439984	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:127439984G>C	ENST00000434178.2	-	5	1288	c.392C>G	c.(391-393)aCg>aGg	p.T131R	MGLL_ENST00000398104.1_Missense_Mutation_p.T131R|MGLL_ENST00000398101.3_Missense_Mutation_p.T105R|MGLL_ENST00000265052.5_Missense_Mutation_p.T141R|MGLL_ENST00000453507.2_Missense_Mutation_p.T141R			Q99685	MGLL_HUMAN	monoglyceride lipase	22	60	0	62	131					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			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CTCTGCGGCCGTGAGGATGGC	0.537000													1	1	1	1	1	1	1.000000	25	61	0	67	1	9.360257e-01	2	12	0	67	5
GPR149	344758	broad.mit.edu	37	3	154056029	154056029	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr3:154056029C>A	ENST00000389740.2	-	4	1754	c.1655G>T	c.(1654-1656)tGt>tTt	p.C552F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	61	135	1	165	552						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGGAATGCACACAAGGGAAT	0.448000													1	0	1	1	1	1	1.000000	65	147	1	181	0	0	0	0	1	181	4
WDR19	57728	broad.mit.edu	37	4	39230233	39230233	+	Silent	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:39230233T>C	ENST00000399820.3	+	17	2059	c.1905T>C	c.(1903-1905)caT>caC	p.H635H	WDR19_ENST00000288634.7_Silent_p.H475H|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	46	44	0	122	635					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTAGCACCCATGGCTTTCTCA	0.428000													1	1	1	1	1	1	1.000000	50	48	0	138	1	9.931017e-01	6	5	0	138	5
PTPN13	0	broad.mit.edu	37	4	87696407	87696407	+	Silent	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:87696407T>A	ENST00000436978.1	+	34	6087	c.5607T>A	c.(5605-5607)gtT>gtA	p.V1869V	PTPN13_ENST00000316707.6_Silent_p.V1673V|PTPN13_ENST00000511467.1_Silent_p.V1869V|PTPN13_ENST00000411767.2_Silent_p.V1864V|PTPN13_ENST00000427191.2_Silent_p.V1845V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	4	23	0	42	1864						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAGATTAGTTATTGGACGAG	0.388000													0	0	1	0	0	1	0.895278	4	24	0	46	1	8.131690e-01	5	16	0	46	1
FBXW7	0	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	9	32	0	84	479					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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	0.995878	9	35	0	86	1	5.940125e-01	4	5	0	86	5
PTGER4	5734	broad.mit.edu	37	5	40691917	40691917	+	Silent	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr5:40691917T>C	ENST00000302472.3	+	3	1928	c.904T>C	c.(904-906)Ttg>Ctg	p.L302L		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	17	72	0	117	302					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TCAGCCAAGTTTGGAGCGAGA	0.413000													1	1	1	1	1	1	0.999991	18	78	0	125	1	5.368071e-01	3	6	0	125	5
SIL1	64374	broad.mit.edu	37	5	138282944	138282944	+	Silent	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr5:138282944G>C	ENST00000394817.2	-	10	1387	c.1248C>G	c.(1246-1248)ccC>ccG	p.P416P	SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000265195.5_Silent_p.P416P|SIL1_ENST00000509534.1_Silent_p.P423P	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	34	21	0	56	416					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCCGAGCTGGGGGTCCTGAC	0.677000									Marinesco-Sjgren syndrome				1	1	1	1	1	1	1.000000	35	23	0	57	1	1	162	167	0	57	5
OR5V1	81696	broad.mit.edu	37	6	29323301	29323301	+	Silent	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:29323301G>T	ENST00000377154.1	-	4	971	c.672C>A	c.(670-672)acC>acA	p.T224T	OR5V1_ENST00000543825.1_Silent_p.T224T			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	29	163	0	121	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCTCAAGATGGTGGAGATTA	0.468000													1	1	1	1	1	1	1.000000	31	167	0	124	0	0	0	0	0	124	5
NELFE	7936	broad.mit.edu	37	6	31922417	31922417	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:31922417A>T	ENST00000375429.3	-	7	883	c.657T>A	c.(655-657)gaT>gaA	p.D219E	NELFE_ENST00000444811.2_Missense_Mutation_p.D189E|NELFE_ENST00000375425.5_Missense_Mutation_p.D226E	NM_002904.5	NP_002895.3			negative elongation factor complex member E	15	53	0	39									p.D219>?(1)									cccgatcccgatccctgtccc	0.642000													1	1	1	1	1	1	0.999935	15	53	0	39	1	1	207	506	0	39	5
PRPH2	5961	broad.mit.edu	37	6	42689572	42689572	+	Silent	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:42689572G>T	ENST00000230381.5	-	1	740	c.501C>A	c.(499-501)ggC>ggA	p.G167G		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	22	234	0	153	167			G -> D (in PDREP; butterfly-shaped).|G -> S (in PDREP; butterfly-shaped).		cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	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)			AACCGTTGTTGCCGCAGCATT	0.502000													1	1	1	1	0	1	1.000000	23	246	0	163	0	0	0	0	0	163	4
FAM83B	222584	broad.mit.edu	37	6	54806522	54806522	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:54806522C>T	ENST00000306858.7	+	5	2869	c.2753C>T	c.(2752-2754)cCa>cTa	p.P918L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	3	109	0	95	918										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTCCAAGGCCAACGTCCAGT	0.448000													1	0	0	1	0	1	0.966191	6	117	0	105	0	9.232609e-02	0	9	0	105	2
GABRR2	2570	broad.mit.edu	37	6	90024791	90024791	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr6:90024791C>A	ENST00000402938.3	-	1	227	c.94G>T	c.(94-96)Gtg>Ttg	p.V32L	GABRR2_ENST00000602808.1_5'UTR|GABRR2_ENST00000602399.1_Missense_Mutation_p.V57L			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	10	215	0	305	57					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			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		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)		GGCATTTCCACCTGCCCTGTC	0.507000													1	0	1	1	0	1	0.998438	11	243	0	335	0	0	0	0	0	335	3
PCLO	27445	broad.mit.edu	37	7	82764634	82764634	+	Silent	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:82764634C>T	ENST00000423517.2	-	3	2569	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	PCLO_ENST00000333891.8_Silent_p.Q744Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	14	40	0	70	690	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCCTTGTCCTGCTCAGATG	0.517000													1	1	1	1	1	1	0.999946	15	41	0	72	0	0	0	0	0	72	5
GRM3	0	broad.mit.edu	37	7	86416020	86416020	+	Silent	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:86416020C>T	ENST00000361669.2	+	3	2011	c.912C>T	c.(910-912)ggC>ggT	p.G304G	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Silent_p.G302G|GRM3_ENST00000536043.1_Silent_p.G176G|GRM3_ENST00000439827.1_Silent_p.G304G	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	19	49	0	64	304					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACGGCTGGGGCGCGCAGGAGA	0.677000													1	1	1	1	1	1	0.999999	20	51	0	68	0	0	1	0	0	68	5
ADAM22	53616	broad.mit.edu	37	7	87780297	87780297	+	Splice_Site	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:87780297G>A	ENST00000398204.4	+	19	1891	c.1566_splice	c.e19-1	p.C523_splice	ADAM22_ENST00000265727.7_Splice_Site_p.C523_splice|ADAM22_ENST00000315984.7_Splice_Site_p.C523_splice|ADAM22_ENST00000398201.4_Splice_Site_p.C523_splice|ADAM22_ENST00000398209.3_Splice_Site_p.C523_splice	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	25	15	0	72	523	Disintegrin.				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			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TTTTCCTAGTGTGCCCCTAAT	0.328000													1	1	1	1	1	1	1.000000	29	16	0	87	0	4.122340e-01	1	1	0	87	5
TMEM130	222865	broad.mit.edu	37	7	98457843	98457843	+	Silent	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr7:98457843G>C	ENST00000450876.1	-	3	1573	c.258C>G	c.(256-258)ctC>ctG	p.L86L	TMEM130_ENST00000416379.2_Silent_p.L170L|TMEM130_ENST00000345589.4_Silent_p.L68L|TMEM130_ENST00000339375.4_Silent_p.L170L|TMEM130_ENST00000546258.1_Silent_p.L151L			Q8N3G9	TM130_HUMAN	transmembrane protein 130	14	29	0	57	170						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	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)			AGGCGGTCTTGAGGAAGTTGC	0.592000													1	1	1	1	1	1	0.999913	14	29	0	58	1	9.411842e-01	3	10	0	58	5
VPS13B	157680	broad.mit.edu	37	8	100733115	100733115	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr8:100733115A>G	ENST00000358544.2	+	39	7076	c.6965A>G	c.(6964-6966)tAt>tGt	p.Y2322C	VPS13B_ENST00000357162.2_Missense_Mutation_p.Y2297C|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	14	21	0	40	2322					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTGGGGTCTATGAAGTCTTA	0.348000													1	1	1	1	1	1	0.999937	14	21	0	40	0	0	0	0	0	40	5
PTPRD	5789	broad.mit.edu	37	9	8528579	8528579	+	Splice_Site	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:8528579A>C	ENST00000537002.1	-	4	654		c.e4+1		PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000463477.1_Intron|PTPRD_ENST00000381196.4_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Intron|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Intron|PTPRD_ENST00000355233.5_Intron			P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	23	39	0	114						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		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)		AGAAACAGTAACAAGACCCTA	0.303000										TSP Lung(15;0.13)			1	0	0	1	0	1	1.000000	25	42	0	120	0	0	0	0	0	120	2
NFX1	0	broad.mit.edu	37	9	33295250	33295250	+	Silent	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:33295250C>T	ENST00000379540.3	+	2	920	c.858C>T	c.(856-858)ctC>ctT	p.L286L	NFX1_ENST00000379521.4_Silent_p.L286L|NFX1_ENST00000318524.6_Silent_p.L286L	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	26	17	0	68	286					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			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGGATGACCTCAATGAAAGAC	0.512000													1	1	1	1	1	1	1.000000	28	20	0	69	1	9.999689e-01	9	10	0	69	5
BRD3	8019	broad.mit.edu	37	9	136915512	136915512	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:136915512G>T	ENST00000303407.7	-	5	883	c.698C>A	c.(697-699)aCg>aAg	p.T233K	BRD3_ENST00000371834.2_Missense_Mutation_p.T233K|BRD3_ENST00000357885.2_Missense_Mutation_p.T233K	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	57	2	0	69	233						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GACAGGCGGCGTAGGAGGGAC	0.692000			T	C15orf55	lethal midline carcinoma of young people								1	1	1	1	1	1	1.000000	65	3	0	72	1	1	20	1	0	72	5
MAN1B1	11253	broad.mit.edu	37	9	139981513	139981513	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr9:139981513C>G	ENST00000371589.4	+	1	135	c.62C>G	c.(61-63)aCg>aGg	p.T21R		NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	4	10	0	9	21					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			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	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)		GACTTCCTGACGCCGCCAGTG	0.687000													0	0	1	0	0	1	0.900958	4	10	0	10	1	9.966860e-01	16	27	0	10	1
CXCL12	6387	broad.mit.edu	37	10	44873206	44873206	+	Silent	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr10:44873206C>A	ENST00000395794.2	-	4	457	c.414G>T	c.(412-414)ggG>ggT	p.G138G	CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron	NM_001178134.1	NP_001171605.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	16	11	0	31	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	ATTACACATCCCCAGGAGAGG	0.547000													1	1	1	1	1	1	0.999998	17	14	0	35	1	1	47	27	0	35	5
HIF1AN	55662	broad.mit.edu	37	10	102300458	102300458	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr10:102300458A>C	ENST00000299163.5	+	3	596	c.496A>C	c.(496-498)Aac>Cac	p.N166H	HIF1AN_ENST00000528044.1_3'UTR	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	39	7	0	96	166	Interaction with HIF1A.|Interaction with VHL.|JmjC.				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			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		CTTAGGTTTTAACTGGAACTG	0.448000													1	1	1	1	1	1	1.000000	41	8	0	101	1	1	17	3	0	101	5
OR4C3	256144	broad.mit.edu	37	11	48347056	48347056	+	Silent	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:48347056C>A	ENST00000319856.4	+	1	585	c.564C>A	c.(562-564)gtC>gtA	p.V188V		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	7	83	0	102	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TCCTCCTGGTCCTTTGGTTGC	0.517000													1	1	1	1	0	1	0.999990	18	89	0	104	0	0	0	0	0	104	4
PPP6R3	55291	broad.mit.edu	37	11	68326128	68326128	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:68326128C>T	ENST00000393799.2	+	8	1093	c.826C>T	c.(826-828)Ctt>Ttt	p.L276F	PPP6R3_ENST00000524904.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000527403.2_Missense_Mutation_p.L276F|PPP6R3_ENST00000524845.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000393800.2_Missense_Mutation_p.L276F|PPP6R3_ENST00000393801.3_Missense_Mutation_p.L276F|PPP6R3_ENST00000265636.5_Missense_Mutation_p.L276F|PPP6R3_ENST00000265637.4_Missense_Mutation_p.L276F			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	20	60	0	77	276					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GCTGACTTTACTTGAGACACG	0.358000													1	1	1	1	1	1	0.999999	21	64	0	86	1	9.998027e-01	21	27	0	86	5
PHLDB1	23187	broad.mit.edu	37	11	118506246	118506246	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:118506246C>G	ENST00000361417.2	+	11	2926	c.2515C>G	c.(2515-2517)Cgc>Ggc	p.R839G	PHLDB1_ENST00000356063.5_Missense_Mutation_p.R839G|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	17	56	0	38	839										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	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)		TGAGCTGCTCCGCAGCATCGC	0.632000													1	1	1	1	1	1	0.999985	17	58	0	39	1	9.999863e-01	25	51	0	39	5
CHD4	1108	broad.mit.edu	37	12	6696569	6696569	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:6696569A>C	ENST00000309577.6	-	25	4023	c.3860T>G	c.(3859-3861)gTa>gGa	p.V1287G	CHD4_ENST00000544040.1_Missense_Mutation_p.V1280G|CHD4_ENST00000357008.2_Missense_Mutation_p.V1287G|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544484.1_Missense_Mutation_p.V1284G			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	35	66	0	87	1287					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						TTCTTCCCGTACCACATACTG	0.448000													1	0	1	1	1	1	1.000000	38	71	1	101	1	1	79	130	1	101	4
A2ML1	144568	broad.mit.edu	37	12	8995770	8995770	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:8995770A>C	ENST00000299698.7	+	12	1469	c.1289A>C	c.(1288-1290)cAa>cCa	p.Q430P		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	54	45	0	116	274						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AATCCGGAACAAGTGCCACGT	0.483000													1	1	1	1	1	1	1.000000	57	48	0	124	1	7.438892e-01	3	1	0	124	5
TAS2R30	259293	broad.mit.edu	37	12	11286029	11286029	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:11286029G>A	ENST00000539585.1	-	1	1214	c.815C>T	c.(814-816)cCt>cTt	p.P272L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30	94	52	0	174											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GTGGGTTGAAGGATAGCTGAA	0.413000													1	1	1	1	1	1	1.000000	96	79	0	184	0	0	0	0	0	184	5
TAS2R30	259293	broad.mit.edu	37	12	11286045	11286045	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:11286045T>C	ENST00000539585.1	-	1	1198	c.799A>G	c.(799-801)Att>Gtt	p.I267V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30	97	58	0	172											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CTGAATATAATAGCTTGGCAG	0.398000													1	1	1	1	1	1	1.000000	103	84	0	183	1	9.997722e-01	15	0	0	183	5
PPHLN1	51535	broad.mit.edu	37	12	42745780	42745780	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:42745780G>A	ENST00000395568.2	+	3	250	c.166G>A	c.(166-168)Gtt>Att	p.V56I	PPHLN1_ENST00000358314.7_Missense_Mutation_p.V56I|PPHLN1_ENST00000549190.1_Missense_Mutation_p.V74I|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000449194.2_Missense_Mutation_p.V56I|PPHLN1_ENST00000395580.3_Missense_Mutation_p.V63I|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000432191.2_Intron	NM_016488.6	NP_057572.5	Q8NEY8	PPHLN_HUMAN	periphilin 1	15	30	0	38	56					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TTACAGTCATGTTGATTACCG	0.423000													1	1	1	1	1	1	0.999996	18	31	0	41	1	1	4	83	0	41	5
PUS7L	83448	broad.mit.edu	37	12	44148360	44148360	+	Missense_Mutation	SNP	T	T	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:44148360T>G	ENST00000416848.2	-	2	1177	c.689A>C	c.(688-690)aAa>aCa	p.K230T	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.K230T|PUS7L_ENST00000551923.1_Missense_Mutation_p.K230T|PUS7L_ENST00000553166.1_Missense_Mutation_p.K230T	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	6	40	0	47	230					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AAAGGTAAATTTGGAATTTTC	0.308000													1	0	1	1	1	1	0.968426	6	41	0	48	0	1.072010e-01	1	3	0	48	4
ACVR1B	91	broad.mit.edu	37	12	52387803	52387803	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:52387803G>T	ENST00000257963.4	+	9	1504	c.1427G>T	c.(1426-1428)tGt>tTt	p.C476F	ACVR1B_ENST00000541224.1_Missense_Mutation_p.C517F|ACVR1B_ENST00000542485.1_Missense_Mutation_p.C424F	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	59	51	0	137	476	Protein kinase.				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			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ATGCGAGAGTGTTGGTATGCC	0.607000													1	1	1	1	1	1	1.000000	63	53	0	148	1	1	33	25	0	148	5
NR4A1	0	broad.mit.edu	37	12	52448894	52448894	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:52448894G>A	ENST00000545748.1	+	3	1939	c.944G>A	c.(943-945)gGt>gAt	p.G315D	NR4A1_ENST00000243050.1_Missense_Mutation_p.G261D|NR4A1_ENST00000394825.1_Missense_Mutation_p.G261D|NR4A1_ENST00000550082.1_Missense_Mutation_p.G274D|NR4A1_ENST00000360284.3_Missense_Mutation_p.G274D|NR4A1_ENST00000548232.1_Missense_Mutation_p.G261D|NR4A1_ENST00000394824.2_Missense_Mutation_p.G261D			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	45	48	0	136	261					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			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGGGCCCCAGGTGGAAGTGAA	0.612000													1	1	1	1	1	1	1.000000	50	51	0	147	1	1	37	57	0	147	5
RP11-644F5.10	0	broad.mit.edu	37	12	56109922	56109922	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:56109922G>A	ENST00000550412.1	+	1	103	c.87G>A	c.(85-87)atG>atA	p.M29I	BLOC1S1_ENST00000548925.1_Missense_Mutation_p.M29I|BLOC1S1_ENST00000549147.1_Missense_Mutation_p.M29I|BLOC1S1_ENST00000257899.2_Start_Codon_SNP_p.M1I						15	16	0	29											endometrium(1)|lung(1)	2						ACGTGACCATGCTGTCCCGCC	0.657000													1	1	1	1	0	1	0.999992	16	17	0	30	1	1	40	160	0	30	4
RILPL1	353116	broad.mit.edu	37	12	124008056	124008056	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr12:124008056A>T	ENST00000376874.4	-	2	681	c.446T>A	c.(445-447)tTc>tAc	p.F149Y		NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	22	79	0	95	149					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	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)		ATGCTTCTGGAACTCCTCCTC	0.577000													1	1	1	1	1	1	1.000000	24	89	0	108	1	9.950914e-01	5	30	0	108	5
ELF1	1997	broad.mit.edu	37	13	41507845	41507845	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr13:41507845G>C	ENST00000239882.3	-	9	1890	c.1576C>G	c.(1576-1578)Cca>Gca	p.P526A	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.P502A	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	45	4	0	99	526					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		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)		CTGAAGGATGGAGAGGAAGCC	0.512000													1	1	1	1	1	1	1.000000	46	4	0	106	1	1	27	7	0	106	5
OR4L1	122742	broad.mit.edu	37	14	20528715	20528715	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:20528715A>G	ENST00000315683.1	+	1	512	c.512A>G	c.(511-513)cAc>cGc	p.H171R		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	62	66	0	136	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTCTGTGGCCACAATGTCATA	0.398000													1	1	1	1	1	1	1.000000	65	71	0	148	0	0	0	0	0	148	5
MDGA2	161357	broad.mit.edu	37	14	47324352	47324352	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:47324352A>C	ENST00000426342.1	-	15	2610	c.1864T>G	c.(1864-1866)Tta>Gta	p.L622V	MDGA2_ENST00000439988.2_Missense_Mutation_p.L851V|MDGA2_ENST00000357362.3_Missense_Mutation_p.L622V|MDGA2_ENST00000399232.2_Missense_Mutation_p.L920V|MDGA2_ENST00000399222.3_Missense_Mutation_p.L53V	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	5	23	0	43	851	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TAAACATTTAAGACACCTAAA	0.308000													1	0	1	1	1	1	0.970343	6	25	0	48	0	0	0	0	0	48	4
TRIP11	9321	broad.mit.edu	37	14	92506029	92506029	+	Translation_Start_Site	SNP	T	T	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:92506029T>C	ENST00000267622.4	-	1	374	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TRIP11_ENST00000555105.1_5'UTR	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	6	2	0	23	1					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CAGGACGACATCGCGGCGAGT	0.602000			T	PDGFRB	AML								1	0	1	1	0	1	0.995508	7	2	0	25	1	9.755245e-01	3	3	0	25	3
DICER1	23405	broad.mit.edu	37	14	95557638	95557638	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr14:95557638T>A	ENST00000526495.1	-	27	5720	c.5429A>T	c.(5428-5430)gAt>gTt	p.D1810V	DICER1_ENST00000527414.1_Missense_Mutation_p.D1810V|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000343455.3_Missense_Mutation_p.D1810V|DICER1_ENST00000556045.1_Missense_Mutation_p.D708V|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000393063.1_Missense_Mutation_p.D1810V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	115	122	0	266	1810	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	p.D1810A(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTCAAAAATATCCCCCATGGC	0.453000			Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				1	1	1	1	1	1	1.000000	124	134	0	290	1	9.999995e-01	8	21	0	290	5
C15orf41	84529	broad.mit.edu	37	15	36872095	36872095	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr15:36872095G>T	ENST00000566621.1	+	1	284	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S	C15orf41_ENST00000437989.2_Missense_Mutation_p.A12S|C15orf41_ENST00000569302.1_Missense_Mutation_p.A12S	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	8	11	0	42	12							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		CGACGAGATAGCCCAGTGCCT	0.567000													1	0	1	1	0	1	0.994442	8	12	0	47	0	6.569170e-01	1	4	0	47	3
SPTBN5	51332	broad.mit.edu	37	15	42178339	42178339	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr15:42178339G>A	ENST00000320955.6	-	7	1341	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	12	1	0	52	372					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		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)		GTCTGTAGCCGGAAGAGCAGG	0.672000													1	1	1	1	1	1	0.999991	12	1	0	53	0	0	0	0	0	53	5
SYNGR3	9143	broad.mit.edu	37	16	2042103	2042103	+	Silent	SNP	C	C	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr16:2042103C>G	ENST00000248121.2	+	2	386	c.228C>G	c.(226-228)ctC>ctG	p.L76L	SYNGR3_ENST00000562045.1_5'UTR	NM_004209.5	NP_004200.2	O43761	SNG3_HUMAN	synaptogyrin 3	10	5	0	14	76	MARVEL.				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle				endometrium(1)|lung(2)	3						CGCTGGGCCTCGGAGCCTTCC	0.706000													0	1	1	1	0	1	0.999936	12	5	0	15	0	0	0	0	0	15	3
TP53	7157	broad.mit.edu	37	17	7577552	7577552	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:7577552C>A	ENST00000420246.2	-	7	861	c.729G>T	c.(727-729)atG>atT	p.M243I	TP53_ENST00000455263.2_Missense_Mutation_p.M243I|TP53_ENST00000413465.2_Missense_Mutation_p.M243I|TP53_ENST00000445888.2_Missense_Mutation_p.M243I|TP53_ENST00000269305.4_Missense_Mutation_p.M243I|TP53_ENST00000359597.4_Missense_Mutation_p.M243I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	30	2	0	94	243	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.M243I(7)|p.?(5)|p.M243_G244>IC(1)|p.M243fs*18(1)|p.G244fs*3(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.M243T(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TCATGCCGCCCATGCAGGAAC	0.582000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	37	2	0	107	1	1	18	3	0	107	5
SCPEP1	59342	broad.mit.edu	37	17	55062742	55062742	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:55062742G>T	ENST00000262288.3	+	3	284	c.229G>T	c.(229-231)Ggt>Tgt	p.G77C	SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	17	51	0	90	77					proteolysis	extracellular region	serine-type carboxypeptidase activity	p.G77S(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					TCCATAGGGCGGTCCAGGCGG	0.423000													1	1	1	1	0	1	0.999992	18	63	0	97	1	1	43	137	0	97	4
PPAN-P2RY11	0	broad.mit.edu	37	19	10221193	10221193	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:10221193C>A	ENST00000428358.1	+	10	1106	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	PPAN_ENST00000556468.1_Missense_Mutation_p.L312M|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L312M|PPAN_ENST00000253107.7_Missense_Mutation_p.L312M|PPAN_ENST00000393793.1_Missense_Mutation_p.L259M	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		10	150	0	41	312					RNA splicing	nucleolus	protein binding	p.L312V(4)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GCAGGCCATCCTGGAAGCCAA	0.667000													1	1	1	1	0	1	0.998512	11	156	0	42	1	1	70	866	0	42	4
GPATCH1	55094	broad.mit.edu	37	19	33604672	33604672	+	Splice_Site	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:33604672G>T	ENST00000170564.2	+	14	2206		c.e14-1			NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	15	26	0	38							catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TCAATTCCCAGTTCAACTTTA	0.433000													1	1	1	1	1	1	0.999992	17	31	0	43	1	9.469658e-01	11	1	0	43	5
DPF1	0	broad.mit.edu	37	19	38713335	38713335	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:38713335A>C	ENST00000416611.1	-	2	169	c.46T>G	c.(46-48)Ttc>Gtc	p.F16V	DPF1_ENST00000412732.1_5'UTR|DPF1_ENST00000355526.4_Missense_Mutation_p.F42V|DPF1_ENST00000414789.1_5'UTR|DPF1_ENST00000420980.2_Missense_Mutation_p.F42V|DPF1_ENST00000456296.1_Missense_Mutation_p.F16V			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	8	13	0	21	42					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCGCGGTAGAAGTCCTCGCCT	0.731000													1	1	1	1	0	1	0.998664	10	16	0	21	1	8.541713e-01	3	5	0	21	4
ZNF808	388558	broad.mit.edu	37	19	53058029	53058029	+	Silent	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:53058029G>A	ENST00000359798.4	+	5	2040	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	35	34	0	69	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ATACTGGAGAGAAACCATACA	0.398000													1	1	1	1	1	1	1.000000	39	35	0	70	1	5.389347e-01	2	1	0	70	5
TNNT1	7138	broad.mit.edu	37	19	55653236	55653236	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:55653236C>T	ENST00000588981.1	-	7	385	c.181G>A	c.(181-183)Gtt>Att	p.V61I	TNNT1_ENST00000587758.1_Missense_Mutation_p.V50I|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000356783.5_Missense_Mutation_p.V50I|TNNT1_ENST00000291901.8_Missense_Mutation_p.V61I|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000536926.1_Missense_Mutation_p.V50I	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	23	141	1	228	61					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TCGAAGTCAACGCGCTCCCCT	0.602000													1	0	1	1	1	1	0.999970	24	163	1	257	1	9.999998e-01	44	296	1	257	4
ZNF418	147686	broad.mit.edu	37	19	58438844	58438844	+	Silent	SNP	A	A	G			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr19:58438844A>G	ENST00000396147.1	-	4	996	c.705T>C	c.(703-705)tgT>tgC	p.C235C	ZNF418_ENST00000425570.3_Silent_p.C256C|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Silent_p.C150C|ZNF418_ENST00000595830.1_Silent_p.C235C	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	11	55	0	70	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		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)		AGGATTTCCCACATTCCCAGC	0.403000													1	1	1	1	1	1	0.998799	11	58	0	72	0	3.363783e-01	0	7	0	72	5
CDH4	1002	broad.mit.edu	37	20	59829994	59829994	+	Splice_Site	SNP	G	G	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr20:59829994G>T	ENST00000360469.5	+	2	257		c.e2+1			NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	34	57	0	72						adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CTACTTCAAGGTAAGGCGGGG	0.483000													1	1	1	1	1	1	1.000000	34	59	0	73	0	0	0	0	0	73	5
APP	351	broad.mit.edu	37	21	27277388	27277388	+	Splice_Site	SNP	A	A	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr21:27277388A>T	ENST00000357903.3	-	14	2020	c.1852_splice	c.e14-1	p.V618_splice	APP_ENST00000359726.3_Splice_Site_p.V581_splice|APP_ENST00000358918.3_Intron|APP_ENST00000346798.3_Splice_Site_p.V637_splice|APP_ENST00000354192.3_Splice_Site_p.V506_splice|APP_ENST00000348990.5_Splice_Site_p.V562_splice|APP_ENST00000448388.2_Splice_Site_p.V527_splice|APP_ENST00000440126.3_Splice_Site_p.V613_splice|APP_ENST00000439274.2_Splice_Site_p.V581_splice	NM_201413.2	NP_958816.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	10	13	0	28	637					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|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CAACAGGCTCAACTGGGCACA	0.537000													1	1	1	1	1	1	0.999439	11	15	0	31	1	1	174	815	0	31	5
ZC3H7B	23264	broad.mit.edu	37	22	41739574	41739574	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr22:41739574T>A	ENST00000352645.4	+	13	1710	c.1453T>A	c.(1453-1455)Tgc>Agc	p.C485S	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.C485S	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	11	12	0	26	501					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTACTACCTGTGCAAAGGTGG	0.677000													1	1	1	1	1	1	0.999809	12	12	0	27	1	9.999932e-01	16	21	0	27	5
FBLN1	2192	broad.mit.edu	37	22	45914649	45914649	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr22:45914649C>T	ENST00000348697.2	+	2	314	c.167C>T	c.(166-168)aCg>aTg	p.T56M	FBLN1_ENST00000327858.6_Missense_Mutation_p.T56M|FBLN1_ENST00000402984.3_Missense_Mutation_p.T56M|FBLN1_ENST00000340923.5_Missense_Mutation_p.T56M|FBLN1_ENST00000262722.7_Missense_Mutation_p.T56M|FBLN1_ENST00000442170.2_Missense_Mutation_p.T56M			P23142	FBLN1_HUMAN	fibulin 1	18	0	0	19	56	Anaphylatoxin-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCATATGCTACGGAATCCAAA	0.562000													0	1	1	0	0	1	1.000000	21	0	0	22	1	1	166	6	0	22	2
CDKL5	6792	broad.mit.edu	37	X	18622158	18622158	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrX:18622158G>A	ENST00000379989.3	+	13	1399	c.1114G>A	c.(1114-1116)Gct>Act	p.A372T	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.A372T	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	44	168	0	291	372					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGGAAACCTTGCTGGAGCTAG	0.522000													1	1	1	1	1	1	1.000000	47	180	0	302	0	0	0	0	0	302	5
HUWE1	10075	broad.mit.edu	37	X	53611281	53611281	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrX:53611281G>A	ENST00000342160.3	-	40	5483	c.5026C>T	c.(5026-5028)Cgc>Tgc	p.R1676C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R1676C|HUWE1_ENST00000218328.8_Intron			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	5	52	0	58	1676	WWE.				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			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATCACAGGGCGTCGGTTCCCT	0.438000													1	1	1	1	0	1	0.940233	5	57	0	60	0	0	0	0	0	60	4
IL18BP	10068	broad.mit.edu	37	11	71712330	71712332	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr11:71712330_71712332delATT	ENST00000497194.2	+	3	1691_1693	c.319_321delATT	c.(319-321)del	p.I107del	IL18BP_ENST00000531053.1_In_Frame_Del_p.I107del|IL18BP_ENST00000337131.5_In_Frame_Del_p.I107del|IL18BP_ENST00000260049.5_In_Frame_Del_p.I107del|IL18BP_ENST00000404792.1_In_Frame_Del_p.I107del|IL18BP_ENST00000393703.4_In_Frame_Del_p.I107del|IL18BP_ENST00000393705.4_In_Frame_Del_p.I107del|IL18BP_ENST00000393707.4_Intron			O95998	I18BP_HUMAN	interleukin 18 binding protein	27	27	0	47	107	Ig-like C2-type.				T-helper 1 type immune response	extracellular region	interleukin-18 binding|receptor antagonist activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TGGTTCCTTCATTGAGCACCTCC	0.611000													1	1	1	1	0	1	1.000000	28	55	0	45	1	9.405359e-01	2	10	0	45	4
ANKFY1	51479	broad.mit.edu	37	17	4071081	4071086	+	In_Frame_Del	DEL	CCCCAC	CCCCAC	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:4071081_4071086delCCCCAC	ENST00000341657.4	-	25	3532_3537	c.3497_3502delGTGGGG	c.(3496-3504)gtt>g	p.GGV1166del	ANKFY1_ENST00000574367.1_In_Frame_Del_p.GGV1167del|ANKFY1_ENST00000570535.1_In_Frame_Del_p.GGV1208del|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	17	5	0	71	1166						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CACTAAGAAACCCCACCCAGAGTCAG	0.544000													1	1	1	1	0	1	0.999996	17	20	0	75							4
TP53	7157	broad.mit.edu	37	17	7577134	7577134	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chr17:7577134delG	ENST00000420246.2	-	8	936	c.804delC	c.(802-804)aafs	p.N268fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.N268fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N268fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.N268fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	16	2	0	31	268	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> Y (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.N268N(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		CCTCAAAGCTGTTCCGTCCCA	0.537000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	0	1	0.999991	16	18	0	32	1	1	23	36	0	32	3
GPRASP1	9737	broad.mit.edu	37	X	101912011	101912011	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N6-A4VE-01A-11D-A28R-08	TCGA-N6-A4VE-11A-12D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23e46a5d-8da7-43a0-b4a3-63dcc11fd071	aa58534e-57ed-44dd-be20-6f4a4ff1d11e	g.chrX:101912011delG	ENST00000537097.1	+	6	3983	c.3170delG	c.(3169-3171)tgfs	p.W1057fs	GPRASP1_ENST00000415986.1_Frame_Shift_Del_p.W1057fs|GPRASP1_ENST00000444152.1_Frame_Shift_Del_p.W1057fs|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Frame_Shift_Del_p.W1057fs	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	102	132	0	283	1057	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTGGTCCATGGGGTAGGGTC	0.517000													1	1	1	1	0	1	1.000000	102	236	0	289	0	8.055649e-01	0	9	0	289	4
CASZ1	54897	broad.mit.edu	37	1	10715751	10715751	+	Silent	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:10715751G>A	ENST00000377022.3	-	9	1937	c.1620C>T	c.(1618-1620)caC>caT	p.H540H	CASZ1_ENST00000344008.5_Silent_p.H540H	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	14	22	0	51	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	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)		GGTGGCAGCCGTGGTAGTAGA	0.637000													1	1	1	1	1	1	0.999934	14	22	0	51	1	6.414818e-01	3	2	0	51	5
HSPG2	3339	broad.mit.edu	37	1	22161368	22161368	+	Silent	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:22161368G>A	ENST00000374695.3	-	77	10603	c.10524C>T	c.(10522-10524)ttC>ttT	p.F3508F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	25	49	0	61	3508	Ig-like C2-type 21.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		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)	CCAGGCATTCGAACTCCACGG	0.637000													1	1	1	1	1	1	1.000000	26	50	0	64	1	1	160	285	0	64	5
LEPR	3953	broad.mit.edu	37	1	66081728	66081728	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:66081728G>A	ENST00000349533.6	+	15	2218	c.2033G>A	c.(2032-2034)aGa>aAa	p.R678K	LEPR_ENST00000344610.8_Missense_Mutation_p.R678K|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.R678K|LEPR_ENST00000371059.3_Missense_Mutation_p.R678K|LEPR_ENST00000371060.3_Missense_Mutation_p.R678K	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	23	44	0	65	678	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AGTGTTCAGAGATATGTGATA	0.393000													1	1	1	1	1	1	1.000000	26	51	0	72	1	9.993978e-01	5	23	0	72	5
KCNJ9	3765	broad.mit.edu	37	1	160054319	160054319	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:160054319C>T	ENST00000368088.3	+	2	741	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	20	20	0	30	167					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCCAACAAGCGCGCAGCCAC	0.652000													1	1	1	1	1	1	1.000000	21	20	0	31	0	0	0	0	0	31	5
UGT1A6	0	broad.mit.edu	37	2	234601884	234601884	+	Nonsense_Mutation	SNP	T	T	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr2:234601884T>G	ENST00000305139.6	+	1	373	c.234T>G	c.(232-234)taT>taG	p.Y78*	UGT1A8_ENST00000373450.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_001072.3	NP_001063.2				29	49	0	68											central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		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)		GAAAAATCTATCCAGTGCCGT	0.423000													1	1	1	1	1	1	1.000000	31	51	0	74	0	0	0	0	0	74	5
ITIH4	3700	broad.mit.edu	37	3	52858518	52858518	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:52858518C>T	ENST00000266041.4	-	8	1036	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	ITIH4_ENST00000485816.1_Missense_Mutation_p.V314I|ITIH4_ENST00000434759.3_Missense_Mutation_p.V226I|ITIH4_ENST00000406595.1_Missense_Mutation_p.V314I|ITIH4_ENST00000346281.5_Missense_Mutation_p.V314I|ITIH4-AS1_ENST00000478366.1_RNA	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	14	71	0	104	314	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				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)		GTACTGAAGACGATGAGGTTG	0.572000													1	1	1	1	1	1	0.999840	14	74	0	111	0	1.996160e-01	0	5	0	111	5
EPHB1	2047	broad.mit.edu	37	3	134670597	134670597	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:134670597C>T	ENST00000398015.3	+	3	878	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	94	117	0	215	170						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCCTCTTACTCGGAATGGTTT	0.463000													1	1	1	1	1	1	1.000000	102	128	0	246	0	1.981649e-01	1	1	0	246	5
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	10	18	0	34	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|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(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	0.999855	13	21	0	38	1	9.992919e-01	12	15	0	38	5
PCDHA3	0	broad.mit.edu	37	5	140183011	140183011	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr5:140183011C>T	ENST00000522353.2	+	1	2229	c.2229C>T	c.(2227-2229)agC>agT	p.S743S	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1				52	106	0	171									p.S743S(4)|p.S743R(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.637000													1	1	1	1	1	1	1.000000	57	111	0	185	0	0	0	0	0	185	5
PCDHGB3	0	broad.mit.edu	37	5	140751623	140751623	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr5:140751623C>T	ENST00000576222.1	+	1	1793	c.1662C>T	c.(1660-1662)gaC>gaT	p.D554D	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1				21	55	0	75											endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGACGACCGCAACGACA	0.667000													1	1	1	1	1	1	1.000000	22	57	0	77	0	9.519108e-01	1	15	0	77	5
BMP6	654	broad.mit.edu	37	6	7845380	7845380	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:7845380C>T	ENST00000283147.6	+	2	831	c.672C>T	c.(670-672)taC>taT	p.Y224Y		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	37	52	0	71	224					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			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TAGTGGAGTACGACAAGGAGT	0.478000													1	1	1	1	1	1	1.000000	40	58	0	77	0	5.400795e-01	0	4	0	77	5
SOX4	6659	broad.mit.edu	37	6	21596141	21596141	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:21596141C>G	ENST00000244745.1	+	1	2170	c.1376C>G	c.(1375-1377)tCg>tGg	p.S459W	SOX4_ENST00000543472.1_Missense_Mutation_p.S459W	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	4	16	0	12	459					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			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GAGATGATCTCGGGAGACTGG	0.622000													0	1	1	1	0	1	0.946083	5	16	0	14	1	9.995511e-01	21	54	0	14	3
REV3L	5980	broad.mit.edu	37	6	111631214	111631214	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:111631214G>A	ENST00000435970.1	-	32	9466	c.8650C>T	c.(8650-8652)Ctt>Ttt	p.L2884F	REV3L_ENST00000368802.3_Missense_Mutation_p.L2962F|REV3L_ENST00000368805.1_Missense_Mutation_p.L2962F|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000358835.3_Missense_Mutation_p.L2962F			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	27	66	0	70	2962					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		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)		AGCTGGATAAGTGGTACTCCG	0.512000								DNA polymerases (catalytic subunits)					1	1	1	1	1	1	1.000000	28	67	0	72	1	9.999989e-01	24	38	0	72	5
SGK1	6446	broad.mit.edu	37	6	134491532	134491532	+	Silent	SNP	G	G	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:134491532G>C	ENST00000367858.5	-	14	2052	c.1455C>G	c.(1453-1455)acC>acG	p.T485T	SGK1_ENST00000528577.1_Silent_p.T418T|SGK1_ENST00000367857.5_Silent_p.T380T|SGK1_ENST00000413996.3_Silent_p.T404T|SGK1_ENST00000475719.2_Silent_p.T346T|SGK1_ENST00000237305.7_Silent_p.T390T	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	36	55	0	69	390					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CAGGCTCTTCGGTAAACTCGG	0.557000													1	1	1	1	1	1	1.000000	37	60	0	72	1	1	44	106	0	72	5
MAP7	9053	broad.mit.edu	37	6	136710584	136710584	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr6:136710584G>A	ENST00000354570.3	-	4	726	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	MAP7_ENST00000454590.1_Missense_Mutation_p.R128W|MAP7_ENST00000438100.2_Missense_Mutation_p.R128W|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Missense_Mutation_p.R91W	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	43	77	0	114	106					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			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CTCTTCTTCCGCTCTTCCAGG	0.527000													1	1	1	1	1	1	1.000000	45	83	0	123	1	9.664659e-01	3	10	0	123	5
CLIP2	7461	broad.mit.edu	37	7	73731941	73731941	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:73731941G>A	ENST00000223398.6	+	2	392	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	CLIP2_ENST00000395060.1_Missense_Mutation_p.R22Q|CLIP2_ENST00000361545.5_Missense_Mutation_p.R22Q	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	75	100	0	156	22						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCATGGGCCGGACATCTACT	0.672000													1	0	1	1	1	1	1.000000	82	107	1	172	1	9.871258e-01	6	6	1	172	4
ZNF775	285971	broad.mit.edu	37	7	150094403	150094403	+	Silent	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr7:150094403G>A	ENST00000329630.5	+	3	941	c.834G>A	c.(832-834)ccG>ccA	p.P278P		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	14	25	0	21	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		cgggcgagccgcgccAGTTCA	0.741000													1	1	1	1	0	1	0.999962	15	28	0	22	0	5.738094e-01	0	3	0	22	4
SCRIB	23513	broad.mit.edu	37	8	144892705	144892705	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr8:144892705G>A	ENST00000356994.2	-	13	1480	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	SCRIB_ENST00000377533.3_Missense_Mutation_p.R411W|SCRIB_ENST00000320476.3_Missense_Mutation_p.R492W	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	19	148	0	141	492	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			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	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)			GCCTCGCTCCGCCGCCCCTCG	0.682000													1	1	1	1	1	1	0.999997	20	165	0	146	1	9.777108e-01	7	46	0	146	5
TMEM215	401498	broad.mit.edu	37	9	32784834	32784834	+	Missense_Mutation	SNP	A	A	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr9:32784834A>G	ENST00000342743.5	+	2	1018	c.653A>G	c.(652-654)tAc>tGc	p.Y218C		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	15	55	0	97	218						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						TATGACAGATACTGTTGTTAT	0.478000													1	1	1	1	1	1	0.999930	15	60	0	107	0	0	1	0	0	107	5
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Missense_Mutation	SNP	C	C	G	rs121913292		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr10:89692904C>G	ENST00000371953.3	+	5	1745	c.388C>G	c.(388-390)Cga>Gga	p.R130G		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	29	36	0	75	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		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.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		TGGAAAGGGACGAACTGGTGT	0.403000	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	1	1	1	1	1	1.000000	33	38	0	77	1	1	68	19	0	77	5
PTPN5	84867	broad.mit.edu	37	11	18755102	18755102	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:18755102C>T	ENST00000396170.1	-	10	2249		c.e10+1		PTPN5_ENST00000396171.4_Splice_Site|PTPN5_ENST00000358540.2_Splice_Site|PTPN5_ENST00000396168.1_Splice_Site|PTPN5_ENST00000477854.1_Splice_Site|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Splice_Site	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	35	56	0	82							integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGAATACGTACCCGGATGTAG	0.592000													1	1	1	1	1	1	1.000000	36	61	0	87	0	0	0	0	0	87	5
KCNA4	3739	broad.mit.edu	37	11	30034018	30034018	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:30034018C>T	ENST00000328224.6	-	2	1441	c.208G>A	c.(208-210)Gcc>Acc	p.A70T		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	13	66	0	75	70						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GAGGTACAGGCCCCGCGTGAC	0.662000													1	1	1	1	1	1	0.999844	14	70	0	80	0	0	0	0	0	80	5
LRRC4C	57689	broad.mit.edu	37	11	40137424	40137424	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:40137424G>A	ENST00000278198.2	-	2	2382	c.419C>T	c.(418-420)cCg>cTg	p.P140L	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P140L|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P140L|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P140L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	12	29	0	42	140					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGCTCCATTCGGGATGGTAGT	0.423000													1	1	1	1	1	1	0.999549	12	33	0	43	1	3.101824e-01	2	2	0	43	5
MEN1	0	broad.mit.edu	37	11	64572230	64572230	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:64572230G>A	ENST00000337652.1	-	10	1927	c.1424C>T	c.(1423-1425)cCg>cTg	p.P475L	MEN1_ENST00000315422.4_Missense_Mutation_p.P470L|MEN1_ENST00000377326.3_Missense_Mutation_p.P470L|MEN1_ENST00000377313.1_Missense_Mutation_p.P475L|MEN1_ENST00000394376.1_Missense_Mutation_p.P475L|MEN1_ENST00000394374.2_Missense_Mutation_p.P475L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000312049.6_Missense_Mutation_p.P470L|MEN1_ENST00000443283.1_Missense_Mutation_p.P475L|MEN1_ENST00000377321.1_Missense_Mutation_p.P435L|MEN1_ENST00000377316.2_Missense_Mutation_p.P415L	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	20	56	0	61	475					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			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CTCGCCCCACGGCTCCTCGGC	0.731000			D, Mis, N, F, S		parathyroid tumors, Pancreatic neuroendocrine tumors	parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				1	1	1	1	1	1	0.999998	20	59	0	66	1	9.964192e-01	11	20	0	66	5
MAML2	84441	broad.mit.edu	37	11	95718733	95718733	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:95718733C>T	ENST00000524717.1	-	4	3701	c.2417G>A	c.(2416-2418)aGa>aAa	p.R806K		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	5	15	0	18	806					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GCCCACATTTCTTCTTTGGTC	0.323000			T	MECT1, CRTC3	salivary gland mucoepidermoid								1	0	1	1	1	1	0.972347	6	17	0	22	0	9.307236e-01	0	17	0	22	4
DSCAML1	57453	broad.mit.edu	37	11	117391968	117391968	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:117391968G>A	ENST00000321322.6	-	6	1271	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R154C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	58	108	0	146	364	Ig-like C2-type 5.				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			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	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)		CTGAGCCCGCGGATGGAGATG	0.652000													1	1	1	1	1	1	1.000000	64	117	0	160	1	7.698960e-01	3	4	0	160	5
OR8A1	390275	broad.mit.edu	37	11	124440650	124440650	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr11:124440650C>A	ENST00000284287.3	+	1	758	c.686C>A	c.(685-687)aCa>aAa	p.T229K		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	20	42	0	68	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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)		ACGAGCTTAACAGTTCTTGTT	0.498000													1	1	1	1	1	1	0.999999	20	44	0	70	0	0	0	0	0	70	5
ZC3H10	84872	broad.mit.edu	37	12	56515410	56515410	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:56515410C>T	ENST00000257940.2	+	3	1340	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	25	46	0	51	355	Pro-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CCACCCCCACCCCCACACTTG	0.627000													1	1	1	1	1	1	1.000000	25	46	0	55	1	9.998129e-01	10	21	0	55	5
ARHGAP9	64333	broad.mit.edu	37	12	57871401	57871401	+	Silent	SNP	G	G	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:57871401G>T	ENST00000393797.2	-	7	1002	c.810C>A	c.(808-810)cgC>cgA	p.R270R	ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000393791.3_Silent_p.R199R|ARHGAP9_ENST00000356411.2_Silent_p.R199R|ARHGAP9_ENST00000430041.2_Silent_p.R15R|ARHGAP9_ENST00000550288.1_Silent_p.R278R|ARHGAP9_ENST00000424809.2_Silent_p.R199R			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	23	55	0	61	199					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			ACCGAGGACAGCGGCGAAGGT	0.647000													1	1	1	1	1	1	1.000000	24	60	0	65	0	8.886495e-01	0	12	0	65	5
NAV3	89795	broad.mit.edu	37	12	78400511	78400511	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:78400511G>A	ENST00000397909.2	+	8	1366	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	NAV3_ENST00000228327.6_Missense_Mutation_p.R398H|NAV3_ENST00000536525.2_Missense_Mutation_p.R398H|NAV3_ENST00000266692.7_Missense_Mutation_p.R398H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	38	59	0	92	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAG	0.498000										HNSCC(70;0.22)			1	1	1	1	1	1	1.000000	39	60	0	101	1	5.032057e-01	2	2	0	101	5
RIC8B	55188	broad.mit.edu	37	12	107236410	107236410	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr12:107236410G>C	ENST00000392837.4	+	5	1031	c.880G>C	c.(880-882)Gat>Cat	p.D294H	RIC8B_ENST00000355478.2_Missense_Mutation_p.D254H|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392839.2_Missense_Mutation_p.D294H			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	10	35	0	44	294					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CTCTTGTTTGGATGTTCTCAT	0.348000													1	1	1	1	1	1	0.999511	12	38	0	48	1	6.783650e-01	4	5	0	48	5
F10	2159	broad.mit.edu	37	13	113803456	113803456	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr13:113803456C>T	ENST00000375559.3	+	8	1130	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	30	21	0	60	364	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			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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)	TGAGCGGCTTCGGGCGCACCC	0.647000													1	0	1	1	1	1	1.000000	30	22	0	62	1	9.999991e-01	26	0	0	62	4
MBIP	51562	broad.mit.edu	37	14	36780847	36780847	+	Missense_Mutation	SNP	C	C	T	rs140089260		TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr14:36780847C>T	ENST00000416007.4	-	6	809	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	MBIP_ENST00000359527.7_Missense_Mutation_p.R241Q|MBIP_ENST00000603913.1_5'UTR|MBIP_ENST00000318473.7_Missense_Mutation_p.R241Q	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	11	25	0	30	241	Interaction with MAP3K12.				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			breast(2)|large_intestine(1)|lung(5)	8	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)		ACCACAGTCTCGAAGCATGCT	0.428000													1	1	1	1	1	1	0.999625	12	25	0	35	1	9.999988e-01	47	30	0	35	5
AP5M1	55745	broad.mit.edu	37	14	57736076	57736076	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr14:57736076C>A	ENST00000261558.3	+	1	450	c.44C>A	c.(43-45)aCt>aAt	p.T15N	AP5M1_ENST00000431972.2_Missense_Mutation_p.T15N	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	10	73	0	90	15					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											GAACCGGGAACTCCACTTTGT	0.488000													1	1	1	1	1	1	0.999320	12	86	0	99	1	9.587918e-01	6	36	0	99	5
NTRK3	4916	broad.mit.edu	37	15	88679256	88679256	+	Missense_Mutation	SNP	T	T	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr15:88679256T>A	ENST00000394480.1	-	9	1102	c.781A>T	c.(781-783)Acc>Tcc	p.T261S	NTRK3_ENST00000357724.2_Missense_Mutation_p.T261S|NTRK3_ENST00000557856.1_Missense_Mutation_p.T261S|NTRK3_ENST00000558676.1_Missense_Mutation_p.T261S|NTRK3_ENST00000542733.2_Missense_Mutation_p.T163S|NTRK3_ENST00000355254.2_Missense_Mutation_p.T261S|NTRK3_ENST00000540489.2_Missense_Mutation_p.T261S|NTRK3_ENST00000317501.3_Missense_Mutation_p.T261S|NTRK3_ENST00000360948.2_Missense_Mutation_p.T261S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	6	62	0	66	261	Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGAACATTGGTCCAGTTCAGA	0.458000			T	ETV6	congenital fibrosarcoma, Secretory breast					TSP Lung(13;0.10)			1	1	1	1	0	1	0.982377	7	67	0	74	0	1.684311e-01	0	7	0	74	4
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	22	41	0	61	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GCAGCGCTCATGGTGGGGGCA	0.642000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	23	43	0	64	1	1	43	31	0	64	5
EPB41L3	23136	broad.mit.edu	37	18	5428407	5428407	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr18:5428407G>A	ENST00000341928.2	-	9	1310	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	EPB41L3_ENST00000544123.1_Missense_Mutation_p.R324C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R324C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R324C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R324C|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	38	89	0	120	324	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGCCGGTCGCGATATATCAAC	0.413000													1	1	1	1	1	1	1.000000	41	98	0	133	0	9.969502e-01	0	25	0	133	5
ASXL3	80816	broad.mit.edu	37	18	31324283	31324283	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr18:31324283G>A	ENST00000269197.5	+	12	4471	c.4471G>A	c.(4471-4473)Gtt>Att	p.V1491I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	24	53	0	65	1491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GACTGTCTCCGTTGAAAGCTC	0.557000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	25	53	0	67	0	0	0	0	0	67	5
SALL3	27164	broad.mit.edu	37	18	76754280	76754280	+	Silent	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr18:76754280C>T	ENST00000536229.3	+	1	2599	c.1890C>T	c.(1888-1890)ggC>ggT	p.G630G	SALL3_ENST00000575389.2_Silent_p.G763G|SALL3_ENST00000537592.2_Silent_p.G763G			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	24	40	0	45	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		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)		TGCACATGGGCGGCCAGATCC	0.652000													1	1	1	1	1	1	1.000000	26	43	0	47	0	0	0	0	0	47	5
ILF3	3609	broad.mit.edu	37	19	10781723	10781723	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:10781723A>T	ENST00000449870.1	+	3	394	c.77A>T	c.(76-78)gAg>gTg	p.E26V	ILF3_ENST00000592763.1_Missense_Mutation_p.E26V|ILF3_ENST00000590261.1_Missense_Mutation_p.E26V|ILF3_ENST00000318511.3_Missense_Mutation_p.E26V|ILF3_ENST00000407004.3_Missense_Mutation_p.E26V|ILF3_ENST00000589998.1_Missense_Mutation_p.E26V|ILF3_ENST00000250241.8_Missense_Mutation_p.E26V|ILF3_ENST00000420083.1_Missense_Mutation_p.E26V|ILF3_ENST00000588657.1_Missense_Mutation_p.E26V	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	7	22	0	37	26					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			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCAACACAAGAGGAGCTGGAG	0.502000													1	1	1	1	1	1	0.985038	7	24	0	41	1	9.999909e-01	30	98	0	41	5
DMWD	1762	broad.mit.edu	37	19	46289102	46289102	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:46289102C>T	ENST00000270223.6	-	3	1697	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	AC011530.4_ENST00000593999.1_Missense_Mutation_p.G44R|DMWD_ENST00000377735.3_Missense_Mutation_p.R551Q	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	26	33	0	72	551					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		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)		ACTGCCACCCCGGCTGATGTT	0.701000													1	1	0	1	0	1	1.000000	29	38	0	76	0	9.750628e-01	1	10	0	76	3
FTL	2512	broad.mit.edu	37	19	49469955	49469955	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:49469955A>C	ENST00000331825.6	+	4	698	c.491A>C	c.(490-492)gAg>gCg	p.E164A		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	9	83	0	109	164					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			cervix(1)|kidney(3)|lung(5)	9		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)	GGGCTGGGCGAGTATCTCTTC	0.552000													1	1	1	1	0	1	0.994945	9	89	0	116	1	1	169	6785	0	116	4
LRRN4	164312	broad.mit.edu	37	20	6022239	6022239	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:6022239G>A	ENST00000378858.4	-	5	1876	c.1652C>T	c.(1651-1653)cCc>cTc	p.P551L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	46	136	0	190	551						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GTGCTTGCAGGGATGGTAATC	0.662000													1	1	1	1	1	1	1.000000	51	150	0	203	0	0	0	1	0	203	5
HM13	81502	broad.mit.edu	37	20	30155955	30155955	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			C	G	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:30155955C>G	ENST00000335574.5	+	12	1233	c.1109C>G	c.(1108-1110)gCc>gGc	p.A370G	HM13_ENST00000340852.5_Intron|HM13-AS1_ENST00000412178.1_RNA|HM13_ENST00000398174.3_Missense_Mutation_p.A370G|HM13_ENST00000376127.3_Intron|HM13_ENST00000492709.1_Intron	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	4	37	0	36	366					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	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)			GGCTCCCCAGCCAGCCTGGCC	0.662000													1	0	1	1	1	1	0.968676	6	38	0	39	0	1	0	38	0	39	4
MYH7B	57644	broad.mit.edu	37	20	33572744	33572744	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr20:33572744C>T	ENST00000262873.7	+	10	954	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	31	65	0	77	246	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TAACTCCTCCCGCTTTGTGAG	0.652000													1	1	1	1	1	1	1.000000	33	72	0	82	0	0	0	1	0	82	5
DEPDC5	9681	broad.mit.edu	37	22	32272251	32272251	+	Splice_Site	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr22:32272251G>A	ENST00000400246.1	+	37	3947	c.3805_splice	c.e37+1	p.V1269_splice	DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382112.3_Splice_Site_p.V1260_splice|DEPDC5_ENST00000266091.3_Splice_Site_p.V1247_splice|DEPDC5_ENST00000539165.1_Splice_Site_p.V86_splice|DEPDC5_ENST00000535622.1_Splice_Site_p.V1169_splice|DEPDC5_ENST00000382111.2_Splice_Site_p.V1269_splice|DEPDC5_ENST00000400248.1_Splice_Site_p.V1238_splice|DEPDC5_ENST00000400249.2_Splice_Site_p.V1238_splice			O75140	DEPD5_HUMAN	DEP domain containing 5	52	43	0	108	1238					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCCCGACCGAGGTTAGAGCCG	0.527000													1	0	0	1	0	1	1.000000	52	47	0	110	0	9.465467e-01	0	4	0	110	2
ESX1	80712	broad.mit.edu	37	X	103498922	103498922	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:103498922C>T	ENST00000372588.4	-	2	502	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	21	75	0	105	140					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGGCGGCGGCGTTTCCTCTC	0.632000													1	1	1	1	0	1	1.000000	24	79	0	107	0	0	0	0	0	107	4
GRIA3	2892	broad.mit.edu	37	X	122599593	122599593	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chrX:122599593G>A	ENST00000264357.5	+	14	2685	c.2393G>A	c.(2392-2394)tGg>tAg	p.W798*	GRIA3_ENST00000371251.1_Nonsense_Mutation_p.W798*|GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000542149.1_Nonsense_Mutation_p.W798*	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	16	36	0	71	798					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			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AAAAACAAATGGTGGTACGAC	0.458000													1	0	1	1	1	1	0.999483	18	43	1	78	0	0	0	0	1	78	4
AGRN	375790	broad.mit.edu	37	1	985167	985168	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr1:985167_985168insC	ENST00000379370.2	+	26	4786_4787	c.4736_4737insC	c.(4735-4737)gcgfs	p.A1579fs		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	9	21	0	23	1579	EGF-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	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)		TGCCCGCCCGGCCGCGTCGGTG	0.752000													0	0	1	1	0	1	0.996086	9	30	0	23	1	9.999974e-01	4	120	0	23	2
TMF1	7110	broad.mit.edu	37	3	69084233	69084237	+	Frame_Shift_Del	DEL	CTGTA	CTGTA	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr3:69084233_69084237delCTGTA	ENST00000543976.1	-	9	2436_2440	c.2190_2194delTACAG	c.(2188-2196)cgaafs	p.RTE730fs	CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000398559.2_Frame_Shift_Del_p.RTE727fs|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	7	125	0	118	727					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		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)		GCCGCTTGTTCTGTACGCTGCAATG	0.434000													1	0	1	1	0	1	0.981513	7	128	0	110	0	7.031130e-01	0	45	0	110	3
DMWD	1762	broad.mit.edu	37	19	46289096	46289098	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-N6-A4VF-01A-31D-A28R-08	TCGA-N6-A4VF-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc7bface-208b-486a-b554-868c2c150a47	e2d2cb02-4f0d-4b59-b69e-20d52775f899	g.chr19:46289096_46289098delCCA	ENST00000270223.6	-	3	1701_1703	c.1656_1658delTGG	c.(1654-1659)ggc>gg	p.GG552del	AC011530.4_ENST00000593999.1_In_Frame_Del_p.VA47del|DMWD_ENST00000377735.3_In_Frame_Del_p.GG552del	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	21	36	0	67	552					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		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)		GCCGCCACTGCCACCCCGGCTGA	0.719000													1	1	1	1	0	1	1.000000	22	64	0	73	0	7.653321e-01	0	10	0	73	4
CDK11A	728642	broad.mit.edu	37	1	1650881	1650881	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:1650881C>G	ENST00000356200.3	-	3	373	c.139G>C	c.(139-141)Gat>Cat	p.D47H	CDK11A_ENST00000357760.2_Missense_Mutation_p.D81H|CDK11A_ENST00000378633.1_Missense_Mutation_p.D81H|CDK11A_ENST00000378638.2_Missense_Mutation_p.D47H|CDK11A_ENST00000378635.3_Missense_Mutation_p.D81H|CDK11A_ENST00000358779.5_Missense_Mutation_p.D81H|CDK11A_ENST00000404249.3_Missense_Mutation_p.D81H|RP1-283E3.8_ENST00000598846.1_RNA					cyclin-dependent kinase 11A	35	183	0	235											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCCAAAGAATCATCTTCTTCT	0.393000													1	1	1	1	1	1	1.000000	40	215	0	251	1	9.999999e-01	14	124	0	251	5
CDK11A	728642	broad.mit.edu	37	1	1650883	1650883	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:1650883T>C	ENST00000356200.3	-	3	371	c.137A>G	c.(136-138)gAt>gGt	p.D46G	CDK11A_ENST00000357760.2_Missense_Mutation_p.D80G|CDK11A_ENST00000378633.1_Missense_Mutation_p.D80G|CDK11A_ENST00000378638.2_Missense_Mutation_p.D46G|CDK11A_ENST00000378635.3_Missense_Mutation_p.D80G|CDK11A_ENST00000358779.5_Missense_Mutation_p.D80G|CDK11A_ENST00000404249.3_Missense_Mutation_p.D80G|RP1-283E3.8_ENST00000598846.1_RNA					cyclin-dependent kinase 11A	35	185	0	233											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						CAAAGAATCATCTTCTTCTCC	0.388000													1	1	1	1	1	1	1.000000	40	218	0	248	1	9.999997e-01	13	116	0	248	5
LAMTOR5	10542	broad.mit.edu	37	1	110950343	110950343	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:110950343G>T	ENST00000256644.4	-	1	221	c.146C>A	c.(145-147)cCg>cAg	p.P49Q	LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA	NM_006402.2	NP_006393.2			late endosomal/lysosomal adaptor, MAPK and MTOR activator 5	11	48	0	90																		GGACCGTAACGGCGCCTCCAA	0.617000													1	1	1	1	0	1	0.998813	11	56	0	98	1	7.899794e-01	10	7	0	98	4
ZBTB7B	51043	broad.mit.edu	37	1	154987459	154987459	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:154987459C>A	ENST00000368426.3	+	3	460	c.323C>A	c.(322-324)aCa>aAa	p.T108K	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.T142K|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.T108K|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.T108K	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	19	56	0	49	108	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			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	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)			TTTGCCTATACAGCCACACTG	0.632000													1	1	1	1	1	1	0.999997	19	58	0	52	1	9.996756e-01	13	33	0	52	5
OR10Z1	128368	broad.mit.edu	37	1	158576290	158576290	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr1:158576290G>C	ENST00000361284.1	+	1	62	c.62G>C	c.(61-63)gGg>gCg	p.G21A		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	16	120	0	112	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCCAGTTCTGGGGAGTTGCAG	0.473000													1	1	1	1	1	1	0.999951	16	128	0	115	0	0	0	0	0	115	5
RIF1	55183	broad.mit.edu	37	2	152321302	152321302	+	Silent	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:152321302C>T	ENST00000243326.4	+	29	5751	c.5268C>T	c.(5266-5268)gaC>gaT	p.D1756D	RIF1_ENST00000430328.2_Silent_p.D1756D|RIF1_ENST00000428287.2_Silent_p.D1756D|RIF1_ENST00000444746.2_Silent_p.D1756D|RIF1_ENST00000453091.2_Silent_p.D1756D			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	10	36	0	57	1756					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AAAATAATGACGTAGAGATTA	0.393000													1	1	1	1	1	1	0.997930	10	37	0	61	1	9.167950e-01	4	15	0	61	5
UGT1A7	0	broad.mit.edu	37	2	234590591	234590591	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:234590591G>A	ENST00000373426.3	+	1	8	c.8G>A	c.(7-9)cGt>cAt	p.R3H	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2				52	51	0	146											NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		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;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CTGATGGCTCGTGCAGGGTGG	0.527000											OREG0003832	type=REGULATORY REGION|Gene=UGT1A7|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1	1	1	1	1	1	1.000000	58	56	0	159	0	0	0	0	0	159	5
FARP2	9855	broad.mit.edu	37	2	242380727	242380727	+	Silent	SNP	A	A	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:242380727A>C	ENST00000264042.3	+	13	1337	c.1167A>C	c.(1165-1167)tcA>tcC	p.S389S	FARP2_ENST00000545004.1_Silent_p.S389S|FARP2_ENST00000373287.4_Silent_p.S389S	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	24	32	0	68	389					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			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		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)		AGAGCATCTCATTCCCCGAGG	0.478000													1	1	1	1	1	1	1.000000	26	36	0	81	1	9.859639e-01	5	8	0	81	5
MYRIP	25924	broad.mit.edu	37	3	40251350	40251350	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:40251350G>A	ENST00000302541.6	+	11	2013	c.1671G>A	c.(1669-1671)tcG>tcA	p.S557S	MYRIP_ENST00000425621.1_Silent_p.S557S|MYRIP_ENST00000539167.1_Silent_p.S370S|MYRIP_ENST00000444716.1_Silent_p.S557S|MYRIP_ENST00000396217.3_Silent_p.S468S|MYRIP_ENST00000459828.1_3'UTR	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	30	64	0	101	557	Actin-binding.|Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TTTAGGTGTCGGATGATTTAT	0.483000													1	1	1	1	1	1	1.000000	30	70	0	109	0	9.442223e-02	1	1	0	109	5
HYAL2	8692	broad.mit.edu	37	3	50355733	50355733	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:50355733C>T	ENST00000447092.1	-	3	3541	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	HYAL2_ENST00000442581.1_Missense_Mutation_p.D417N|HYAL2_ENST00000357750.4_Missense_Mutation_p.D417N|HYAL2_ENST00000395139.3_Missense_Mutation_p.D417N			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	5	50	0	87	417	EGF-like.					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	TGGTCAATGTCGGCCCAACTG	0.612000													1	0	1	1	0	1	0.940481	5	52	0	90	1	9.999296e-01	19	295	0	90	3
FXR1	0	broad.mit.edu	37	3	180688077	180688077	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr3:180688077G>A	ENST00000357559.4	+	15	1918	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	FXR1_ENST00000305586.7_Missense_Mutation_p.D427N|FXR1_ENST00000491062.1_Missense_Mutation_p.D463N|FXR1_ENST00000445140.2_Missense_Mutation_p.D512N|FXR1_ENST00000468861.1_Missense_Mutation_p.D427N|FXR1_ENST00000480918.1_Missense_Mutation_p.D499N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	19	41	0	78	512					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ACGAAGGACTGATGAAGATGC	0.423000													1	1	1	1	1	1	1.000000	23	44	0	87	1	1	77	146	0	87	5
SCLT1	132320	broad.mit.edu	37	4	129886450	129886450	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr4:129886450A>T	ENST00000281142.5	-	11	1304	c.801T>A	c.(799-801)caT>caA	p.H267Q	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	13	26	0	43	267						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						CCTCTCTTCCATGGGCAGACA	0.343000													1	1	1	1	1	1	0.999814	13	28	0	51	1	9.750023e-01	6	8	0	51	5
SLC10A7	84068	broad.mit.edu	37	4	147204390	147204390	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr4:147204390G>A	ENST00000432059.2	-	9	1008	c.762C>T	c.(760-762)gaC>gaT	p.D254D	SLC10A7_ENST00000335472.7_Silent_p.D267D|SLC10A7_ENST00000394062.3_Silent_p.D267D|SLC10A7_ENST00000507030.1_Silent_p.D267D|SLC10A7_ENST00000264986.3_3'UTR			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	9	7	0	19	267						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TAGCCACTGTGTCTGCTGGTG	0.338000													1	1	1	1	1	1	0.999329	10	7	0	23	1	9.535927e-01	4	3	0	23	5
FBXW7	0	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	49	33	0	113	505			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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	50	36	0	121	1	9.999966e-01	11	10	0	121	5
SEMA5A	9037	broad.mit.edu	37	5	9043072	9043072	+	Silent	SNP	A	A	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:9043072A>G	ENST00000382496.5	-	23	3827	c.3162T>C	c.(3160-3162)caT>caC	p.H1054H	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	27	28	0	31	1054					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCCCAGTGAGATGTGGGTTGA	0.333000													1	1	1	1	1	1	1.000000	29	29	0	32	1	9.939659e-01	8	4	0	32	5
ADAMTS12	81792	broad.mit.edu	37	5	33658404	33658404	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:33658404C>T	ENST00000504830.1	-	7	1410	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E359K|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	19	124	0	149	359	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCAGGGTCTCGCAGGGGCGA	0.498000										HNSCC(64;0.19)			1	1	1	1	1	1	1.000000	23	136	0	166	0	6.167429e-02	0	3	0	166	5
PARP8	79668	broad.mit.edu	37	5	50045994	50045994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:50045994C>A	ENST00000281631.5	+	3	314	c.156C>A	c.(154-156)taC>taA	p.Y52*	PARP8_ENST00000514067.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000503750.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505554.1_Nonsense_Mutation_p.Y31*|PARP8_ENST00000505697.2_Nonsense_Mutation_p.Y52*|PARP8_ENST00000514342.2_5'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	5	2	0	25	52						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GTGTATCCTACTCAGTACATG	0.333000													1	0	1	1	0	1	0.968298	5	2	0	28	1	9.909502e-01	8	2	0	28	3
RAPGEF6	51735	broad.mit.edu	37	5	130764852	130764852	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr5:130764852G>T	ENST00000509018.1	-	27	4728	c.4523C>A	c.(4522-4524)cCt>cAt	p.P1508H	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.P1516H|RAPGEF6_ENST00000307984.5_Intron|RAPGEF6_ENST00000507093.1_Intron|FNIP1_ENST00000514667.1_Missense_Mutation_p.P1558H	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	73	7	0	60	1508					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			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATATCCTGGAGGAGTGGGAGG	0.448000													1	1	1	1	1	1	1.000000	77	7	0	65	1	1	17	0	0	65	5
GMDS	2762	broad.mit.edu	37	6	1961068	1961068	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:1961068C>G	ENST00000380815.4	-	5	747	c.478G>C	c.(478-480)Ggg>Cgg	p.G160R	GMDS_ENST00000530927.1_Missense_Mutation_p.G130R	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	28	66	0	112	160					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	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)		TGCACTTTCCCATAAAGTTCA	0.502000													1	1	1	1	1	1	1.000000	30	72	0	120	1	9.999953e-01	29	25	0	120	5
HLA-DRA	3122	broad.mit.edu	37	6	32407782	32407782	+	Missense_Mutation	SNP	A	A	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:32407782A>T	ENST00000395388.2	+	1	164	c.55A>T	c.(55-57)Agc>Tgc	p.S19C	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.S19C	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	6	73	0	45	19					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			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TGTGCTGATGAGCGCTCAGGA	0.483000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				1	1	0	1	0	1	0.966756	6	81	0	54	0	9.999738e-01	1	418	0	54	3
KLHDC3	116138	broad.mit.edu	37	6	42986290	42986290	+	Silent	SNP	G	G	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:42986290G>C	ENST00000326974.4	+	6	924	c.729G>C	c.(727-729)tcG>tcC	p.S243S	KLHDC3_ENST00000244670.8_Silent_p.S109S|KLHDC3_ENST00000332245.8_Silent_p.S184S	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	33	198	0	183	243					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			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)			GGAGCCACTCGGCCTGTGAGT	0.572000													1	1	1	1	1	1	1.000000	33	203	0	189	1	1	94	338	0	189	5
PRDM1	639	broad.mit.edu	37	6	106553302	106553302	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr6:106553302A>C	ENST00000369096.4	+	5	1501	c.1267A>C	c.(1267-1269)Aat>Cat	p.N423H	PRDM1_ENST00000369089.3_Missense_Mutation_p.N289H|PRDM1_ENST00000369091.2_Missense_Mutation_p.N387H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	80	431	0	94	423					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	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)		CATGAATTGTAATGGCCTGAG	0.602000			D, N, Mis, F, S		DLBCL								1	1	1	1	1	1	1.000000	84	456	0	99	0	4.232215e-01	0	9	0	99	5
DNAH11	8701	broad.mit.edu	37	7	21940750	21940750	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr7:21940750G>A	ENST00000328843.6	+	83	13481	c.13450G>A	c.(13450-13452)Gag>Aag	p.E4484K	CDCA7L_ENST00000356195.5_3'UTR|DNAH11_ENST00000409508.3_Missense_Mutation_p.E4477K|CDCA7L_ENST00000406877.3_3'UTR			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	48	59	0	140	4484					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACAGACCTACGAGTGCCCTGT	0.527000									Kartagener syndrome				1	1	1	1	1	1	1.000000	52	64	0	147	1	1	102	69	0	147	5
GPR37	2861	broad.mit.edu	37	7	124386910	124386910	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr7:124386910C>T	ENST00000303921.2	-	2	2161	c.1511G>A	c.(1510-1512)tGc>tAc	p.C504Y		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	25	38	0	68	504				FC -> LG (in Ref. 3; AAC51281).		endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGGAATAATGCAAAATCCATA	0.423000													1	1	1	1	1	1	1.000000	25	40	0	71	1	5.019964e-01	3	1	0	71	5
CA13	377677	broad.mit.edu	37	8	86193464	86193464	+	Silent	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr8:86193464C>G	ENST00000321764.3	+	7	977	c.675C>G	c.(673-675)gcC>gcG	p.A225A		NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	14	207	0	223	225					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						TACAGCTGGCCAAATTTCGCA	0.463000													1	1	1	1	0	1	0.999779	14	233	0	248	0	1.013151e-01	0	9	0	248	4
C8orf76	84933	broad.mit.edu	37	8	124243797	124243797	+	Silent	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr8:124243797C>T	ENST00000276704.4	-	4	609	c.558G>A	c.(556-558)gcG>gcA	p.A186A	ZHX1-C8ORF76_ENST00000357082.4_Silent_p.A154A|C8orf76_ENST00000521310.1_5'UTR	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	18	128	0	132	186							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCTGAGATGACGCAAGTGCTG	0.438000													1	1	1	1	1	1	0.999997	20	142	0	147	1	9.999524e-01	23	99	0	147	5
MYC	4609	broad.mit.edu	37	8	128753004	128753004	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr8:128753004T>C	ENST00000377970.2	+	3	1675	c.1165T>C	c.(1165-1167)Ttt>Ctt	p.F389L	MYC_ENST00000524013.1_Missense_Mutation_p.F388L	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	119	132	0	223	374	Helix-loop-helix motif.				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			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	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)		AAAACGGAGCTTTTTTGCCCT	0.522000		3	A, T	IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@	Burkitt lymphoma,  amplified in other cancers, B-CLL								1	1	1	1	1	1	1.000000	132	140	0	249	1	1	192	201	0	249	5
NTRK2	4915	broad.mit.edu	37	9	87635192	87635192	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr9:87635192G>A	ENST00000376214.1	+	20	3182	c.2244G>A	c.(2242-2244)acG>acA	p.T748T	NTRK2_ENST00000277120.3_Silent_p.T748T|NTRK2_ENST00000323115.4_Silent_p.T732T|NTRK2_ENST00000376213.1_Silent_p.T732T	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	46	78	0	166	732	Protein kinase.				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			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AATTCACGACGGAAAGCGACG	0.552000										TSP Lung(25;0.17)			1	1	1	1	1	1	1.000000	51	89	0	181	0	0	0	0	0	181	5
PHF19	26147	broad.mit.edu	37	9	123628012	123628012	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr9:123628012G>T	ENST00000373896.3	-	9	1128	c.876C>A	c.(874-876)caC>caA	p.H292Q	PHF19_ENST00000419155.1_Missense_Mutation_p.H83Q|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	20	55	0	90	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAGCTCCCAGTGGTGGTTGA	0.557000													1	1	1	1	1	1	1.000000	22	57	0	99	1	9.235450e-01	4	10	0	99	5
HPX	3263	broad.mit.edu	37	11	6452620	6452620	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr11:6452620C>T	ENST00000265983.3	-	10	1310	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	47	10	0	94	404					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AAGGCTCCGTCTACCTTCTCA	0.572000													1	1	1	1	1	1	1.000000	49	10	0	104	1	9.096976e-01	3	0	0	104	5
OR5F1	338674	broad.mit.edu	37	11	55761779	55761779	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr11:55761779G>A	ENST00000278409.1	-	1	322	c.323C>T	c.(322-324)gCg>gTg	p.A108V		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	52	34	0	133	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTCGGTTGTCGCCAGGGAGAT	0.478000													1	1	1	1	1	1	1.000000	54	39	0	144	0	0	0	0	0	144	5
SLC2A14	144195	broad.mit.edu	37	12	7982369	7982369	+	Missense_Mutation	SNP	A	A	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr12:7982369A>C	ENST00000543909.1	-	10	1334	c.575T>G	c.(574-576)gTg>gGg	p.V192G	SLC2A14_ENST00000535295.1_Missense_Mutation_p.V83G|SLC2A14_ENST00000542546.1_Missense_Mutation_p.V83G|SLC2A14_ENST00000340749.5_Missense_Mutation_p.V169G|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V192G|SLC2A14_ENST00000539924.1_Missense_Mutation_p.V207G|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.V169G			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	20	30	0	64	192					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TACCTGGGCCACCAGAATTCC	0.443000													1	1	1	1	1	1	1.000000	21	31	0	68	0	0	0	0	0	68	5
ALKBH2	121642	broad.mit.edu	37	12	109526301	109526301	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr12:109526301C>G	ENST00000429722.2	-	4	859	c.496G>C	c.(496-498)Gac>Cac	p.D166H	ALKBH2_ENST00000440112.2_Silent_p.V99V|ALKBH2_ENST00000343075.3_Missense_Mutation_p.D166H	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	13	104	0	119	166	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			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CCGATGTGGTCACAGCCATCT	0.532000								Direct reversal of damage					1	1	1	1	1	1	0.999632	13	110	0	127	1	9.999873e-01	13	178	0	127	5
RXFP2	122042	broad.mit.edu	37	13	32335879	32335879	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr13:32335879C>T	ENST00000298386.2	+	3	331	c.260C>T	c.(259-261)gCg>gTg	p.A87V	RXFP2_ENST00000380314.1_Missense_Mutation_p.A87V	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	15	16	0	29	87						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		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)		AGTGGATGGGCGACCATATTT	0.383000													1	1	1	1	1	1	0.999981	15	16	0	34	0	0	0	0	0	34	5
FREM2	341640	broad.mit.edu	37	13	39451347	39451347	+	Missense_Mutation	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr13:39451347T>C	ENST00000280481.7	+	21	8854	c.8638T>C	c.(8638-8640)Ttc>Ctc	p.F2880L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	80	94	0	236	2880					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		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)		ATCCATGGGATTCGGGCAAGA	0.438000													1	1	1	1	1	1	1.000000	85	100	0	266	0	7.551514e-01	0	5	0	266	5
HDDC3	374659	broad.mit.edu	37	15	91475064	91475064	+	Missense_Mutation	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr15:91475064C>G	ENST00000330334.3	-	3	284	c.279G>C	c.(277-279)aaG>aaC	p.K93N	UNC45A_ENST00000394275.2_Intron|HDDC3_ENST00000394272.3_Missense_Mutation_p.K93N|HDDC3_ENST00000559898.1_Missense_Mutation_p.K93N	NM_198527.2	NP_940929.1	Q8N4P3	MESH1_HUMAN	HD domain containing 3	13	62	0	125	93	HD.						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity			NS(1)|ovary(1)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TGGGCAGAGTCTTGTCATCTG	0.592000											OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	0	1	0	1	0.999998	20	65	0	140	1	9.882700e-01	2	25	0	140	3
TP53	7157	broad.mit.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:7578290C>T	ENST00000420246.2	-	6	692		c.e6-1		TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	30	4	0	49						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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GGGGCCAGACCTAAGAGCAAT	0.552000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	30	4	0	52	1	1	6	15	0	52	5
DNAH2	146754	broad.mit.edu	37	17	7702525	7702525	+	Silent	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:7702525C>T	ENST00000572933.1	+	56	10124	c.8664C>T	c.(8662-8664)atC>atT	p.I2888I	DNAH2_ENST00000389173.2_Silent_p.I2888I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	38	2	0	62	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	p.I2888I(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCTGCACATCGTGCTCTGCC	0.592000													1	1	1	1	1	1	1.000000	40	4	0	70	0	0	0	1	0	70	5
SDF2	6388	broad.mit.edu	37	17	26976153	26976153	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:26976153C>T	ENST00000247020.4	-	3	788	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	18	52	0	100	164	MIR 3.				protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					CCATATTGTTCTCCTGTGACA	0.507000													1	1	1	1	1	1	0.999998	20	60	0	107	0	1	0	155	0	107	5
CNTNAP1	8506	broad.mit.edu	37	17	40847636	40847636	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:40847636G>A	ENST00000264638.4	+	19	3307	c.3090G>A	c.(3088-3090)cgG>cgA	p.R1030R	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	6	57	0	124	1030					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGCTGAGCCGGCCAGTGCCAG	0.622000													1	0	1	1	1	1	0.982609	7	59	0	129	0	2.878408e-01	0	9	0	129	4
BZRAP1	9256	broad.mit.edu	37	17	56382951	56382951	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr17:56382951C>T	ENST00000355701.3	-	28	6181	c.5311G>A	c.(5311-5313)Gct>Act	p.A1771T	BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1711T|BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1771T	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	10	7	0	42	1771	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAAATGCAGCCACCATGGAG	0.602000													1	1	1	1	1	1	0.999696	11	8	0	47	1	9.710145e-01	7	1	0	47	5
REXO1	57455	broad.mit.edu	37	19	1828425	1828425	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:1828425G>A	ENST00000170168.4	-	2	457	c.363C>T	c.(361-363)tcC>tcT	p.S121S	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	18	2	0	39	121						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		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)		gggccTCGGCGGAGCGGTGCT	0.731000													1	1	1	1	0	1	1.000000	19	2	0	39	1	9.999819e-01	10	0	0	39	4
LRP3	4037	broad.mit.edu	37	19	33696691	33696691	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:33696691G>A	ENST00000253193.7	+	5	1217	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	3	14	0	26	339	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CCTGGAGGCCGCCCAGGGCCG	0.711000													0	0	1	0	0	1	0.813268	3	15	0	26	1	9.422492e-01	11	20	0	26	1
HNRNPUL1	11100	broad.mit.edu	37	19	41808612	41808612	+	Missense_Mutation	SNP	T	T	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:41808612T>G	ENST00000392006.3	+	12	1903	c.1730T>G	c.(1729-1731)gTt>gGt	p.V577G	HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.V488G|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.V463G|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.V477G|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.V577G	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	37	52	0	83	577	Necessary for interaction with BRD7 and transcriptional activation.|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			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGGATGAGGTTCTGTTCATT	0.547000													1	1	1	1	1	1	1.000000	41	56	0	92	1	1	239	264	0	92	5
ZNF404	342908	broad.mit.edu	37	19	44377285	44377285	+	Missense_Mutation	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:44377285C>T	ENST00000587539.1	-	3	1080	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	ZNF404_ENST00000324394.6_Missense_Mutation_p.G359R	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	17	14	0	38	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AAGGCCTTTCCACAATCCTTA	0.393000													1	1	1	1	1	1	0.999999	18	14	0	39	0	9.967195e-01	0	12	0	39	5
ZSCAN5C	649137	broad.mit.edu	37	19	56720104	56720104	+	Silent	SNP	C	C	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr19:56720104C>T	ENST00000534327.1	+	5	1175	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V	ZSCAN5C_ENST00000376267.1_Silent_p.V342V					zinc finger and SCAN domain containing 5C	23	31	0	73											central_nervous_system(1)|lung(6)|stomach(1)	8						CGGGCCCAGTCAGTCACCCCA	0.567000													1	0	0	1	0	1	1.000000	24	35	0	80	0	0	0	0	0	80	2
FASTKD5	60493	broad.mit.edu	37	20	3127481	3127481	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:3127481G>C	ENST00000380266.3	-	2	2557	c.2236C>G	c.(2236-2238)Cga>Gga	p.R746G	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	35	83	0	144	746	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAGCGAGTTCGTTTCAGTAGT	0.488000													1	1	1	1	1	1	1.000000	38	87	0	154	1	9.999997e-01	24	38	0	154	5
FOXA2	3170	broad.mit.edu	37	20	22563198	22563198	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:22563198G>A	ENST00000419308.2	-	2	866	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	FOXA2_ENST00000377115.4_Missense_Mutation_p.R222C|FOXA2_ENST00000319993.4_Missense_Mutation_p.R228C	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	53	36	0	99	222					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			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TCGGGCGAGCGGGGCACCTTC	0.627000													1	1	1	1	0	1	1.000000	61	39	0	102	1	6.577780e-01	3	0	0	102	4
TGIF2	60436	broad.mit.edu	37	20	35207242	35207242	+	Missense_Mutation	SNP	G	G	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:35207242G>C	ENST00000373874.2	+	2	264	c.65G>C	c.(64-66)aGg>aCg	p.R22T	TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R22T|RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.R22T	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	52	123	0	123	22						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AGGAAGCGCAGGGGGAACCTG	0.602000													1	1	1	1	1	1	1.000000	54	127	0	126	1	1	38	54	0	126	5
RPN2	6185	broad.mit.edu	37	20	35862430	35862430	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:35862430G>T	ENST00000237530.6	+	15	1996	c.1685G>T	c.(1684-1686)cGg>cTg	p.R562L	RPN2_ENST00000470352.1_3'UTR|RPN2_ENST00000373622.5_Missense_Mutation_p.R530L	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	6	53	0	41	562					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CAGTGGATCCGGATTGGTGCC	0.448000													1	1	1	1	1	1	0.982642	7	58	0	43	1	1	49	1775	0	43	5
SLC12A5	57468	broad.mit.edu	37	20	44682317	44682317	+	Missense_Mutation	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:44682317G>A	ENST00000454036.1	+	20	2793	c.2717G>A	c.(2716-2718)cGc>cAc	p.R906H	SLC12A5_ENST00000243964.3_Missense_Mutation_p.R883H	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	63	116	0	114	906					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.R883H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TATCATTTACGCATCACTGCG	0.547000													1	0	1	1	1	1	1.000000	66	128	0	129	0	0	0	0	0	129	4
ZNF512B	57473	broad.mit.edu	37	20	62598842	62598842	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:62598842G>A	ENST00000450537.1	-	3	216	c.156C>T	c.(154-156)ccC>ccT	p.P52P	ZNF512B_ENST00000217130.3_Silent_p.P52P|ZNF512B_ENST00000369888.1_Silent_p.P52P			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	119	104	0	143	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGGCCTGGCCGGGCACTGTCT	0.637000													1	1	1	1	1	1	1.000000	130	111	0	157	1	1	21	18	0	157	5
TPTE	7179	broad.mit.edu	37	21	10969073	10969073	+	Splice_Site	SNP	A	A	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr21:10969073A>T	ENST00000361285.4	-	7	503		c.e7+1		TPTE_ENST00000298232.7_Intron|TPTE_ENST00000342420.5_Intron|TPTE_ENST00000415664.2_Intron	NM_199261.2	NP_954870.2	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	17	77	0	138						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TTTATAACTCACCTTTCACTG	0.428000													1	1	1	1	0	1	0.999980	17	85	0	142	0	0	0	0	0	142	4
GRIK1	2897	broad.mit.edu	37	21	31045468	31045468	+	Silent	SNP	T	T	C			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr21:31045468T>C	ENST00000399914.1	-	4	1082	c.561A>G	c.(559-561)caA>caG	p.Q187Q	GRIK1_ENST00000389124.2_Silent_p.Q187Q|GRIK1_ENST00000399913.1_Silent_p.Q187Q|GRIK1_ENST00000535441.1_Silent_p.Q187Q|GRIK1_ENST00000389125.3_Silent_p.Q187Q|GRIK1_ENST00000399909.1_Silent_p.Q187Q|GRIK1_ENST00000309434.7_Silent_p.Q187Q|GRIK1_ENST00000327783.4_Silent_p.Q187Q|GRIK1_ENST00000399907.1_Silent_p.Q187Q|GRIK1_ENST00000472429.1_5'UTR			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	11	26	0	52	187					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TGATGAGCTCTTGTAGACGAA	0.393000													1	1	1	1	1	1	0.999615	12	26	0	56	0	0	0	0	0	56	5
SGSM1	129049	broad.mit.edu	37	22	25251535	25251535	+	Missense_Mutation	SNP	G	G	T			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr22:25251535G>T	ENST00000400358.4	+	8	746	c.689G>T	c.(688-690)aGt>aTt	p.S230I	SGSM1_ENST00000400359.4_Missense_Mutation_p.S230I	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	4	45	0	43	230						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGGCATTCCAGTGGCAGCATG	0.572000													1	0	1	1	0	1	0.967951	6	48	0	45	0	1.275749e-01	0	5	0	45	3
MEI1	150365	broad.mit.edu	37	22	42128268	42128268	+	Silent	SNP	G	G	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr22:42128268G>A	ENST00000401548.3	+	10	1156	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_Silent_p.R112R	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	11	1	0	21	372							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGTGGTGAGGAGCCTGCAGG	0.557000													1	1	1	1	1	1	0.999991	12	1	0	21	0	0	0	0	0	21	5
SSX7	280658	broad.mit.edu	37	X	52677447	52677447	+	Splice_Site	SNP	C	C	G			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chrX:52677447C>G	ENST00000298181.5	-	6	489		c.e6-1			NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	67	33	0	325						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TGGGCATGATCTTTATAATGT	0.438000													1	1	1	1	1	1	1.000000	72	36	0	348	0	0	0	0	0	348	5
TAF1	6872	broad.mit.edu	37	X	70621556	70621556	+	Missense_Mutation	SNP	C	C	A			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chrX:70621556C>A	ENST00000449580.1	+	25	4013	c.3962C>A	c.(3961-3963)aCc>aAc	p.T1321N	TAF1_ENST00000276072.3_Missense_Mutation_p.T1342N|TAF1_ENST00000423759.1_Missense_Mutation_p.T1342N|TAF1_ENST00000373790.4_Missense_Mutation_p.T1321N			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	26	13	0	108	1321					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			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTTGAAGGGACCAAAATTGTC	0.433000													1	1	1	1	1	1	1.000000	28	15	0	120	1	9.999906e-01	17	1	0	120	5
NGEF	25791	broad.mit.edu	37	2	233785144	233785144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr2:233785144delC	ENST00000264051.3	-	5	956	c.678delG	c.(676-678)gafs	p.E226fs	NGEF_ENST00000373552.4_Frame_Shift_Del_p.E134fs|NGEF_ENST00000409079.1_Frame_Shift_Del_p.E134fs	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	31	33	0	77	226	Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				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			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		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)		GGCTGGCCGGctcctcctcct	0.592000													1	1	1	1	0	1	1.000000	31	65	0	80	0	0	0	1	0	80	4
YTHDF1	54915	broad.mit.edu	37	20	61835075	61835075	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N6-A4VG-01A-31D-A28R-08	TCGA-N6-A4VG-10A-01D-A28U-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	b16ca6e2-7702-4936-87ef-06844abfbbcd	07de55d3-eae6-4710-ab52-6de07c1216b6	g.chr20:61835075delC	ENST00000370339.3	-	4	558	c.217delG	c.(217-219)ctfs	p.A73fs	YTHDF1_ENST00000370333.4_Frame_Shift_Del_p.A23fs|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	41	87	0	68	73										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GACCACGGAGCCTCATTGAGG	0.517000													1	1	1	1	0	1	1.000000	41	130	0	70	1	1	19	104	0	70	4
NOC2L	26155	broad.mit.edu	37	1	892379	892379	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:892379C>T	ENST00000327044.6	-	4	430	c.381G>A	c.(379-381)gcG>gcA	p.A127A	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	79	103	0	234	127						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	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)		CTCCTTCCTCCGCTCCATCCT	0.582000													1	1	1	1	1	1	1.000000	83	105	0	236	1	1	27	33	0	236	5
RERE	473	broad.mit.edu	37	1	8416169	8416169	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:8416169G>A	ENST00000337907.3	-	22	5111	c.4477C>T	c.(4477-4479)Cca>Tca	p.P1493S	RERE_ENST00000400908.2_Missense_Mutation_p.P1493S|RERE_ENST00000377464.1_Missense_Mutation_p.P1225S|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.P939S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	115	161	0	348	1493	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	p.P1493T(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	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)		CCGAAAACTGGGTGGCGAAGC	0.617000													1	1	1	1	1	1	1.000000	139	195	0	364	1	9.997291e-01	10	11	0	364	5
KIF1B	23095	broad.mit.edu	37	1	10364532	10364532	+	Missense_Mutation	SNP	C	C	T	rs146807975		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:10364532C>T	ENST00000377093.4	+	21	3442	c.3289C>T	c.(3289-3291)Cgt>Tgt	p.R1097C	KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.R1097C|KIF1B_ENST00000377081.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	39	59	0	122	0					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			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	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)		TCATCAACACCGTCAGTCTTA	0.507000													1	1	1	1	1	1	1.000000	41	60	0	124	0	1.685960e-01	1	1	0	124	5
EPHA2	1969	broad.mit.edu	37	1	16456084	16456084	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:16456084G>A	ENST00000358432.5	-	16	2824	c.2669_splice	c.e16-1	p.R890_splice		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	12	28	0	49	890	Mediates interaction with ARHGEF16 and ELMO2.|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			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		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)	GGATAGACACGCtgcaacagg	0.652000													1	1	1	1	1	1	0.999785	13	33	0	49	1	9.802039e-01	8	13	0	49	5
CROCC	9696	broad.mit.edu	37	1	17292527	17292527	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:17292527C>T	ENST00000375541.5	+	29	4678	c.4609C>T	c.(4609-4611)Cgc>Tgc	p.R1537C		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	26	38	0	74	1537					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		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)		TGCCCTGAATCGCCAGCTGGC	0.637000													1	1	1	1	1	1	1.000000	28	42	0	77	1	9.970404e-01	7	11	0	77	5
RNF186	54546	broad.mit.edu	37	1	20141295	20141295	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:20141295G>A	ENST00000375121.2	-	1	476	c.300C>T	c.(298-300)cgC>cgT	p.R100R	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	33	53	0	106	100						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		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)		CCTCATGGTCGCGCAGGCTGC	0.667000													1	1	1	1	1	1	1.000000	40	58	0	107	0	0	0	0	0	107	5
ASAP3	55616	broad.mit.edu	37	1	23767955	23767955	+	Silent	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:23767955G>T	ENST00000336689.3	-	9	803	c.759C>A	c.(757-759)gcC>gcA	p.A253A	ASAP3_ENST00000437606.2_Silent_p.A244A	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	9	20	0	29	253					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CGTCCTCCTGGGCCTGATGGA	0.582000													1	1	1	1	1	1	0.996349	9	25	0	33	0	0	0	1	0	33	5
CATSPER4	378807	broad.mit.edu	37	1	26527326	26527326	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:26527326C>T	ENST00000456354.2	+	8	1060	c.993C>T	c.(991-993)ggC>ggT	p.G331G		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	25	51	0	73	331					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGACAGGCGCAGAGGAAG	0.627000													1	1	1	1	1	1	1.000000	27	56	0	78	0	0	0	0	0	78	5
AHDC1	27245	broad.mit.edu	37	1	27877512	27877512	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:27877512C>G	ENST00000374011.2	-	6	2083	c.1115G>C	c.(1114-1116)gGc>gCc	p.G372A	AHDC1_ENST00000247087.5_Missense_Mutation_p.G372A|AHDC1_ENST00000482400.2_5'UTR	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	11	15	0	14	372	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		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)		CCCGGGGGGGCCGTGCGGTGA	0.697000													0	1	1	0	1	1	0.999728	12	17	0	14	0	1.834677e-01	0	2	0	14	3
OPRD1	4985	broad.mit.edu	37	1	29189255	29189255	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:29189255C>T	ENST00000234961.2	+	3	821	c.577_splice	c.e3-1	p.D193_splice		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	20	23	0	42	193					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		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)	GCGGCCCAGACGGGGCAGTGG	0.637000													1	1	1	1	1	1	1.000000	26	24	0	46	0	0	0	0	0	46	5
TRIM62	55223	broad.mit.edu	37	1	33625365	33625365	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:33625365C>A	ENST00000291416.5	-	3	918	c.685G>T	c.(685-687)Gcc>Tcc	p.A229S	TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Missense_Mutation_p.A108S	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	42	55	0	67	229						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				AGGATCTGGGCTCCCTCCTGG	0.677000													1	1	1	1	1	1	1.000000	44	62	0	72	0	0	0	1	0	72	5
EVA1B	55194	broad.mit.edu	37	1	36788049	36788049	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:36788049C>A	ENST00000270824.1	-	3	636	c.345G>T	c.(343-345)tcG>tcT	p.S115S	EVA1B_ENST00000490466.1_5'UTR|SH3D21_ENST00000474766.1_3'UTR	NM_018166.1	NP_060636.1			eva-1 homolog B (C. elegans)	21	25	0	33																		GCTCCTCCGCCGACGTGAAGA	0.731000													1	1	1	1	0	1	1.000000	28	33	0	39	1	1	55	73	0	39	4
KCNQ4	9132	broad.mit.edu	37	1	41284281	41284281	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:41284281C>T	ENST00000347132.5	+	4	719	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R213C	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	23	25	0	41	213					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	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)			GCAGATCCTGCGCATGGTGCG	0.687000													1	1	1	1	0	1	1.000000	24	27	0	41	0	0	1	0	0	41	4
STIL	6491	broad.mit.edu	37	1	47728788	47728788	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:47728788G>A	ENST00000371877.3	-	15	2763	c.2615_splice	c.e15-1	p.N872_splice	STIL_ENST00000396221.2_Intron|STIL_ENST00000360380.3_Intron|STIL_ENST00000337817.5_Intron|STIL_ENST00000243182.6_Intron			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	11	18	0	29	872					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GAGAAGAGCTGCTGGGAAGGA	0.398000													1	1	1	1	1	1	0.999699	12	19	0	29	0	3.475936e-01	1	1	0	29	5
KTI12	112970	broad.mit.edu	37	1	52498467	52498467	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:52498467G>A	ENST00000371614.1	-	1	1021	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	TXNDC12_ENST00000472624.1_Intron|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	63	61	0	141	323							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						ATAAACTGGCGACGAAGGCGA	0.537000													1	1	1	1	1	1	1.000000	68	69	0	148	1	1	25	19	0	148	5
TTC22	55001	broad.mit.edu	37	1	55266305	55266305	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:55266305C>T	ENST00000371276.4	-	1	635	c.532G>A	c.(532-534)Gcg>Acg	p.A178T	TTC22_ENST00000371274.4_Missense_Mutation_p.A178T	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	9	7	0	23	178							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCGTAGAGCGCGATGCCTGCC	0.701000													1	1	1	1	1	1	0.999930	13	11	0	25	0	0	0	0	0	25	5
MSH4	4438	broad.mit.edu	37	1	76262890	76262890	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:76262890G>A	ENST00000263187.3	+	1	324	c.220G>A	c.(220-222)Gcg>Acg	p.A74T		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	7	7	0	26	74					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCCCTGCCCCGCGCCAAACTC	0.672000								Mismatch excision repair (MMR)					1	1	1	1	1	1	0.999329	10	7	0	27	0	0	0	0	0	27	5
DNASE2B	58511	broad.mit.edu	37	1	84880445	84880445	+	Missense_Mutation	SNP	G	G	A	rs145614783	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:84880445G>A	ENST00000370665.3	+	6	1013	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	DNASE2B_ENST00000370662.3_Missense_Mutation_p.R119Q	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	33	32	0	56	327					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GACCTAAATCGGAGTCCACAC	0.403000													1	0	1	1	1	1	1.000000	35	32	0	58	0	0	0	0	0	58	4
ARHGAP29	9411	broad.mit.edu	37	1	94650983	94650983	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:94650983G>C	ENST00000260526.6	-	17	2017	c.1835C>G	c.(1834-1836)aCa>aGa	p.T612R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	24	37	0	72	612					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.T612I(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAACTTGTGTGTGAGAGCTGC	0.373000													1	1	1	1	1	1	1.000000	26	42	0	78	0	0	0	0	0	78	5
PTBP2	58155	broad.mit.edu	37	1	97235320	97235320	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:97235320T>C	ENST00000236228.6	+	4	259	c.177T>C	c.(175-177)cgT>cgC	p.R59R	PTBP2_ENST00000426398.2_Silent_p.R59R|PTBP2_ENST00000370198.1_Silent_p.R59R|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Silent_p.R59R|PTBP2_ENST00000394184.3_Silent_p.R70R|PTBP2_ENST00000541987.1_Silent_p.R28R	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	45	72	0	137	59	RRM 1.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		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)		CTCCTTCTCGTGTACTTCATA	0.343000													1	1	1	1	1	1	1.000000	52	77	0	151	0	0	0	0	0	151	5
CLCC1	23155	broad.mit.edu	37	1	109493059	109493059	+	Translation_Start_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:109493059T>C	ENST00000356970.2	-	2	108	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CLCC1_ENST00000369971.2_Splice_Site_p.M1_splice|CLCC1_ENST00000369970.3_Start_Codon_SNP_p.M1V|CLCC1_ENST00000369969.2_Start_Codon_SNP_p.M1V|CLCC1_ENST00000369968.2_Start_Codon_SNP_p.M1V|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000348264.2_Start_Codon_SNP_p.M1V|CLCC1_ENST00000415331.1_Start_Codon_SNP_p.M1V|CLCC1_ENST00000369976.1_Start_Codon_SNP_p.M1V|CLCC1_ENST00000302500.4_Start_Codon_SNP_p.M1V			Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	14	18	0	42	1						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAACACAGCATCCTGTATAAG	0.299000													1	0	1	1	0	1	0.999943	14	19	0	44	0	0	0	0	0	44	3
GPR61	0	broad.mit.edu	37	1	110086356	110086356	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:110086356G>T	ENST00000527748.1	+	2	1395	c.712G>T	c.(712-714)Gct>Tct	p.A238S	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	98	159	0	197	238						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		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)		GGCCCGCGTGGCTGCCATGCA	0.617000													1	1	1	1	1	1	1.000000	113	184	0	222	0	0	0	0	0	222	5
KCNA3	3738	broad.mit.edu	37	1	111217016	111217016	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:111217016T>C	ENST00000369769.2	-	1	639	c.416A>G	c.(415-417)tAc>tGc	p.Y139C		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	73	84	0	193	139						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		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)		CGGGTCGAAGTACCTCATGCG	0.647000													1	1	1	1	1	1	1.000000	86	95	0	223	0	0	0	0	0	223	5
PTGFRN	5738	broad.mit.edu	37	1	117484351	117484351	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:117484351C>T	ENST00000393203.2	+	2	211	c.64C>T	c.(64-66)Cgt>Tgt	p.R22C		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	48	57	0	106	22						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	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)		TTGCCGAGGGCGTGTGGTGAG	0.537000													1	1	1	1	1	1	1.000000	55	64	0	118	0	0	0	0	0	118	5
ADAMTSL4	54507	broad.mit.edu	37	1	150531877	150531877	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:150531877C>T	ENST00000271643.4	+	17	3114	c.2878C>T	c.(2878-2880)Cct>Tct	p.P960S	ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.P960S|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.P983S	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	36	53	0	55	960	TSP type-1 5.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	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)			CCCCAGGCCCCCTGCCCTGCA	0.617000											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	41	65	0	60	1	1	45	44	0	60	5
ZNF687	57592	broad.mit.edu	37	1	151261869	151261869	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:151261869C>T	ENST00000368879.2	+	5	2585	c.2487C>T	c.(2485-2487)tgC>tgT	p.C829C		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	64	86	0	131	829					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	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)			TCTACAAGTGCGCCATGTGCG	0.612000													1	1	1	1	1	1	1.000000	72	101	0	141	1	9.733267e-01	6	5	0	141	5
HRNR	388697	broad.mit.edu	37	1	152188528	152188528	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152188528G>A	ENST00000368801.2	-	3	5652	c.5577C>T	c.(5575-5577)ggC>ggT	p.G1859G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	85	890	1	2338	1859					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCCATGTCGGCCACTGCTGG	0.597000													1	0	1	1	0	1	1.000000	96	997	1	1586	0	0	0	0	1	1586	3
FLG	2312	broad.mit.edu	37	1	152281526	152281526	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152281526C>T	ENST00000368799.1	-	3	5871	c.5836G>A	c.(5836-5838)Gct>Act	p.A1946T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	173	304	0	571	1946	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCCCAAGCAGATCCAAGA	0.567000									Ichthyosis				1	1	1	1	1	1	1.000000	185	344	0	583	0	0	0	0	0	583	5
CRNN	49860	broad.mit.edu	37	1	152384693	152384693	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152384693T>C	ENST00000271835.3	-	2	79	c.17A>G	c.(16-18)cAa>cGa	p.Q6R	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	67	87	0	153	6					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATTAATGTTTTGCAGTAACTG	0.493000													1	1	1	1	1	1	1.000000	77	96	0	172	0	0	0	0	0	172	5
LCE1B	353132	broad.mit.edu	37	1	152784988	152784988	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:152784988C>A	ENST00000360090.3	+	1	542	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	47	76	1	199	22	Pro-rich.				keratinization					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	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)			agtgccctcccaagtgccTCA	0.617000													1	0	1	1	1	1	1.000000	52	80	1	205	0	0	0	0	1	205	4
S100A13	6284	broad.mit.edu	37	1	153591516	153591516	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:153591516T>C	ENST00000368699.1	-	5	657		c.e5-2		S100A13_ENST00000440685.2_Splice_Site|S100A13_ENST00000392622.1_Splice_Site|S100A13_ENST00000392623.1_Splice_Site|S100A13_ENST00000491177.1_Splice_Site|S100A13_ENST00000339556.4_Splice_Site	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	101	112	0	216						interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	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)		Amlexanox(DB01025)	GCCCACATCCTGAGGAGACAC	0.502000													1	1	1	1	1	1	1.000000	115	126	0	235	1	1	89	0	0	235	5
SLC39A1	27173	broad.mit.edu	37	1	153932984	153932984	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:153932984G>T	ENST00000368623.3	-	3	1324	c.565C>A	c.(565-567)Ctc>Atc	p.L189I	SLC39A1_ENST00000356205.4_Missense_Mutation_p.L189I|SLC39A1_ENST00000537590.1_Missense_Mutation_p.L87I|SLC39A1_ENST00000368621.1_Missense_Mutation_p.L189I|SLC39A1_ENST00000310483.6_Missense_Mutation_p.L189I			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	31	33	0	57	189						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	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)		ACGGAGTGGAGGGCCAGGGAG	0.677000													1	1	1	1	1	1	1.000000	33	34	0	58	1	1	18	24	0	58	5
MSTO1	55154	broad.mit.edu	37	1	155717654	155717654	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:155717654T>C	ENST00000452804.2	+	7	922	c.861T>C	c.(859-861)acT>acC	p.T287T				Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	18	57	0	64	260					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GAATAATAACTTGGGGCCTGC	0.532000													1	0	1	1	0	1	0.999996	19	72	0	70	0	2.072526e-01	0	4	0	70	3
ATP1A4	480	broad.mit.edu	37	1	160141103	160141103	+	Silent	SNP	G	G	A	rs142215427		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:160141103G>A	ENST00000368081.4	+	11	2025	c.1554G>A	c.(1552-1554)ccG>ccA	p.P518P		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	56	62	0	138	518					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			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGGTGCTCCGGAGAGGATCT	0.502000													1	0	1	1	1	1	1.000000	58	68	0	148	0	0	0	0	0	148	4
DUSP27	92235	broad.mit.edu	37	1	167095958	167095958	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:167095958C>A	ENST00000361200.2	+	6	1756	c.1590C>A	c.(1588-1590)ttC>ttA	p.F530L	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.F530L|DUSP27_ENST00000271385.5_Missense_Mutation_p.F530L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	47	60	0	140	530					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CCAGTTCCTTCTACAACTTCT	0.542000													1	1	1	1	1	1	1.000000	51	64	0	153	0	0	0	0	0	153	5
ABL2	27	broad.mit.edu	37	1	179078368	179078368	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:179078368C>T	ENST00000502732.1	-	12	2237	c.2034G>A	c.(2032-2034)caG>caA	p.Q678Q	ABL2_ENST00000507173.1_Silent_p.Q657Q|ABL2_ENST00000504405.1_Silent_p.Q642Q|ABL2_ENST00000367623.4_Silent_p.Q657Q|ABL2_ENST00000512653.1_Silent_p.Q663Q|ABL2_ENST00000408940.3_Silent_p.Q642Q|ABL2_ENST00000344730.3_Silent_p.Q663Q|ABL2_ENST00000511413.1_Silent_p.Q678Q	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	86	179	0	281	678					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			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TCTTATGGGGCTGATTCTCCA	0.512000			T	ETV6	AML								1	1	1	1	1	1	1.000000	101	203	0	317	1	8.531440e-01	7	2	0	317	5
CFHR1	3078	broad.mit.edu	37	1	196799690	196799690	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:196799690C>T	ENST00000320493.5	+	5	756	c.668C>T	c.(667-669)cCg>cTg	p.P223L	CFHR1_ENST00000367424.3_Missense_Mutation_p.P164L|CFHR2_ENST00000367421.3_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	57	8	0	93	223	Sushi 4.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						ACTTCATTCCCGTTGTCAGTA	0.413000													1	1	1	1	0	1	1.000000	65	8	0	67	0	0	0	0	0	67	4
PPFIA4	8497	broad.mit.edu	37	1	203025953	203025953	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:203025953G>A	ENST00000367240.2	+	18	2746	c.2219G>A	c.(2218-2220)aGc>aAc	p.S740N	PPFIA4_ENST00000447715.2_Missense_Mutation_p.S739N|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S255N|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S468N|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S255N|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S255N			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	12	14	0	31	255					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCAGCAACAGCAGCCAGGAC	0.582000													1	0	1	1	1	1	0.999775	12	14	0	32	0	0	0	0	0	32	4
ZC3H11A	9877	broad.mit.edu	37	1	203819736	203819736	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:203819736C>T	ENST00000545588.1	+	15	5860	c.2033C>T	c.(2032-2034)gCt>gTt	p.A678V	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.A678V|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.A678V|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.A678V|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.A678V	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	29	40	0	86	678							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGCACGCTGCTGTCATTGCC	0.502000													1	1	1	1	1	1	1.000000	30	40	0	88	1	9.999998e-01	16	28	0	88	5
USH2A	7399	broad.mit.edu	37	1	215853543	215853543	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:215853543C>T	ENST00000366943.2	-	62	12628	c.12242G>A	c.(12241-12243)cGg>cAg	p.R4081Q	USH2A_ENST00000307340.3_Missense_Mutation_p.R4081Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	47	74	0	152	4081	Fibronectin type-III 26.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TAGCAATGCCCGGCCATTCTC	0.408000										HNSCC(13;0.011)			1	1	1	1	1	1	1.000000	56	89	0	166	0	0	0	0	0	166	5
LIN9	286826	broad.mit.edu	37	1	226453981	226453981	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:226453981C>A	ENST00000328205.5	-	9	1462	c.917G>T	c.(916-918)cGg>cTg	p.R306L	LIN9_ENST00000481685.1_Missense_Mutation_p.R271L|LIN9_ENST00000366801.1_Missense_Mutation_p.R255L	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	15	11	0	29	290					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TCGAGAAGGCCGCTGTTTTTG	0.338000													1	1	1	1	1	1	0.999993	16	15	0	30	0	5.220779e-01	0	3	0	30	5
JMJD4	65094	broad.mit.edu	37	1	227922791	227922791	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:227922791T>C	ENST00000366758.3	-	1	321	c.322A>G	c.(322-324)Acg>Gcg	p.T108A	JMJD4_ENST00000438896.2_Missense_Mutation_p.T108A|SNAP47_ENST00000366760.1_Intron|SNAP47_ENST00000315781.5_5'UTR|SNAP47_ENST00000366759.4_5'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	4	16	0	20	108										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CAGCCCTGCGTGAAGGCGCTG	0.721000													1	1	1	1	0	1	0.897419	4	16	0	20	1	6.931081e-01	2	8	0	20	4
OBSCN	84033	broad.mit.edu	37	1	228474715	228474715	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:228474715C>T	ENST00000570156.2	+	40	10880	c.10806C>T	c.(10804-10806)tgC>tgT	p.C3602C	OBSCN_ENST00000359599.6_Silent_p.C2020C|OBSCN_ENST00000366707.4_Silent_p.C292C|OBSCN_ENST00000422127.1_Silent_p.C3173C|OBSCN_ENST00000284548.11_Silent_p.C3173C|OBSCN_ENST00000366709.4_Silent_p.C292C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3	9	0	22	2635	Ig-like 36.				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			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGCGCCTGCAGCAGCTCCA	0.652000													0	0	1	0	0	1	0.814010	3	10	0	22	1	8.140097e-01	7	6	0	22	1
CAPN9	10753	broad.mit.edu	37	1	230907846	230907846	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:230907846G>A	ENST00000354537.1	+	7	957		c.e7+1		CAPN9_ENST00000271971.2_Splice_Site|CAPN9_ENST00000366666.2_Splice_Site|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	37	57	0	108						digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GGAGCGACAGGTCAGTCACCC	0.597000													1	1	1	1	1	1	1.000000	43	65	0	124	0	0	0	0	0	124	5
MLK4	0	broad.mit.edu	37	1	233515338	233515338	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:233515338A>G	ENST00000366624.3	+	9	2847	c.2586A>G	c.(2584-2586)tcA>tcG	p.S862S	MLK4_ENST00000366622.1_Silent_p.S308S	NM_032435.2	NP_115811.2				7	72	0	105																		GTAGTGTATCAAGAAACTTGC	0.498000													1	1	1	1	1	1	0.995034	9	79	0	118	0	0	0	0	0	118	5
FMN2	56776	broad.mit.edu	37	1	240601375	240601375	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:240601375C>T	ENST00000319653.9	+	16	5155	c.4925C>T	c.(4924-4926)aCg>aTg	p.T1642M	FMN2_ENST00000545751.1_Missense_Mutation_p.T238M	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	38	77	0	146	1642	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			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTGGAGACCACGGCATATTTC	0.378000													1	1	1	1	1	1	1.000000	42	91	0	169	0	0	0	0	0	169	5
OR2L2	26246	broad.mit.edu	37	1	248201969	248201969	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:248201969C>T	ENST00000366479.2	+	1	496	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	53	70	0	194	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	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)			CTATCCCATCCGTATAAGCAA	0.428000													1	1	1	1	1	1	1.000000	58	79	0	206	0	0	0	0	0	206	5
NCOA1	8648	broad.mit.edu	37	2	24905856	24905856	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:24905856G>T	ENST00000405141.1	+	9	1102	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W	NCOA1_ENST00000538539.1_Missense_Mutation_p.G131W|NCOA1_ENST00000348332.3_Missense_Mutation_p.G131W|NCOA1_ENST00000288599.5_Missense_Mutation_p.G131W|NCOA1_ENST00000406961.1_Missense_Mutation_p.G131W|NCOA1_ENST00000407230.1_5'UTR|NCOA1_ENST00000395856.3_Missense_Mutation_p.G131W			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	18	41	0	65	131	PAS.							p.G131W(1)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAACTGTGAAGGGAGAATTGT	0.368000			T	PAX3	alveolar rhadomyosarcoma								1	1	1	1	1	1	1.000000	22	48	0	73	0	0	0	0	0	73	5
ADCY3	109	broad.mit.edu	37	2	25050931	25050931	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:25050931C>T	ENST00000260600.5	-	13	3123	c.2272G>A	c.(2272-2274)Gcc>Acc	p.A758T	ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	29	27	0	69	758					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			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GACAGCACGGCCACATAGTTG	0.597000											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	30	29	0	75	1	9.597692e-01	2	6	0	75	5
ASXL2	55252	broad.mit.edu	37	2	25990452	25990452	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:25990452T>C	ENST00000435504.4	-	8	1068	c.775_splice	c.e8+1	p.R259_splice	ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_Splice_Site_p.R231_splice			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	15	29	0	51	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	p.R259*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAAACTTACTGGTATGGAGT	0.373000													1	1	1	1	1	1	0.999981	16	32	0	55	0	0	0	0	0	55	5
ALK	238	broad.mit.edu	37	2	29449848	29449848	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:29449848T>C	ENST00000389048.3	-	18	3913	c.3007A>G	c.(3007-3009)Aag>Gag	p.K1003E	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	58	143	0	258	1003					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CAGATGACCTTGTGGCTTTCA	0.557000			T, Mis, A	NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22	ALCL, NSCLC, Neuroblastoma	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				1	1	1	1	1	1	1.000000	64	166	0	271	0	0	0	0	0	271	5
BIRC6	57448	broad.mit.edu	37	2	32768513	32768513	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:32768513G>A	ENST00000421745.2	+	62	12631	c.12497G>A	c.(12496-12498)cGt>cAt	p.R4166H		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	92	132	1	235	4166					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTATTTCTTCGTCTTCCGGGC	0.483000													1	1	1	1	1	1	1.000000	97	142	1	251	0	1.649832e-01	1	1	1	251	5
PRKD3	23683	broad.mit.edu	37	2	37506904	37506904	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:37506904G>A	ENST00000379066.1	-	8	1919	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	PRKD3_ENST00000234179.2_Missense_Mutation_p.A386V			O94806	KPCD3_HUMAN	protein kinase D3	21	58	0	76	386					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			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGTTTTAACGGCTTCTTCATC	0.408000													1	1	1	1	1	1	1.000000	27	70	0	81	0	0	1	0	0	81	5
DHX57	90957	broad.mit.edu	37	2	39088332	39088332	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:39088332A>T	ENST00000295373.6	-	5	1346	c.1220T>A	c.(1219-1221)gTc>gAc	p.V407D	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	53	69	0	117	407							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AGAATATACGACAGGTTCCGA	0.403000													1	1	1	1	1	1	1.000000	57	74	0	124	0	1.920099e-01	1	1	0	124	5
ZFP36L2	678	broad.mit.edu	37	2	43451501	43451501	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:43451501C>T	ENST00000282388.3	-	2	1735	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	7	9	0	14	481					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGGCAGGCGGCGGCCAGGGTC	0.667000													0	1	1	1	0	1	0.997267	9	12	0	14	1	9.853464e-01	8	6	0	14	3
ABCG8	64241	broad.mit.edu	37	2	44105047	44105047	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:44105047T>C	ENST00000272286.2	+	13	2107	c.2017T>C	c.(2017-2019)Tgg>Cgg	p.W673R		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	22	32	0	50	673					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			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGTCAAGACTGGTGATTCAC	0.562000											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	24	40	0	55	0	0	1	0	0	55	5
MSH2	4436	broad.mit.edu	37	2	47707956	47707956	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:47707956G>A	ENST00000406134.1	+	15	2642	c.2580G>A	c.(2578-2580)tcG>tcA	p.S860S	MSH2_ENST00000233146.2_Silent_p.S860S|MSH2_ENST00000461394.1_3'UTR|MSH2_ENST00000543555.1_Silent_p.S794S			P43246	MSH2_HUMAN	mutS homolog 2	56	64	0	95	860					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.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTGGAGAATCGCAAGGATATG	0.383000			D, Mis, N, F, S		colorectal, endometrial, ovarian	colorectal, endometrial, ovarian		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				1	1	1	1	1	1	1.000000	68	73	0	109	1	1	73	79	0	109	5
GFPT1	2673	broad.mit.edu	37	2	69554051	69554051	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:69554051A>G	ENST00000357308.4	-	19	2228	c.2050T>C	c.(2050-2052)Tat>Cat	p.Y684H	GFPT1_ENST00000361060.4_Missense_Mutation_p.Y666H	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	25	22	0	80	684	SIS 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			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CTTACATCATAGCCTCTCAGC	0.433000													1	1	1	1	1	1	1.000000	28	25	0	91	1	1	37	23	0	91	5
ANXA4	307	broad.mit.edu	37	2	70035051	70035051	+	Missense_Mutation	SNP	A	A	G	rs139920396		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:70035051A>G	ENST00000394295.4	+	6	568	c.320A>G	c.(319-321)gAt>gGt	p.D107G	ANXA4_ENST00000409920.1_Missense_Mutation_p.D85G|ANXA4_ENST00000536030.1_Missense_Mutation_p.D23G	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	28	41	0	65	105					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						GCCGGCACTGATGAGGGCTGC	0.552000													1	1	1	1	1	1	1.000000	32	46	0	71	1	9.850068e-01	2	11	0	71	5
PRADC1	84279	broad.mit.edu	37	2	73455661	73455661	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:73455661C>A	ENST00000258083.2	-	5	555	c.488G>T	c.(487-489)tGg>tTg	p.W163L	PRADC1_ENST00000480093.1_5'UTR	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	20	30	0	52	163	PA.					extracellular region				endometrium(1)|large_intestine(1)|lung(2)	4						AATGATGGCCCATGGCAGCCC	0.562000													1	1	1	1	1	1	1.000000	23	38	0	58	1	1	57	52	0	58	5
HK2	3099	broad.mit.edu	37	2	75113749	75113749	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:75113749C>T	ENST00000290573.2	+	15	2768	c.2168C>T	c.(2167-2169)aCa>aTa	p.T723I	HK2_ENST00000409174.1_Missense_Mutation_p.T695I	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	54	80	0	163	723	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GACTTCCGCACAGAATTTGAT	0.562000													1	1	1	1	1	1	1.000000	62	102	0	178	1	7.290306e-01	4	2	0	178	5
SUCLG1	8802	broad.mit.edu	37	2	84670463	84670463	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:84670463G>A	ENST00000393868.2	-	3	473	c.263C>T	c.(262-264)cCa>cTa	p.P88L		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	5	96	0	87	88					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TCCTTTCCCTGGAGTGGTTCC	0.488000													0	0	1	0	0	1	0.939077	5	101	0	91	1	8.161640e-01	5	60	0	91	1
KIAA1211L	343990	broad.mit.edu	37	2	99439573	99439573	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:99439573G>A	ENST00000397899.2	-	7	1494	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V		NM_207362.2	NP_997245.2			KIAA1211-like	15	14	0	12																		CACCTCCTCCGCCTTGTCCGT	0.751000													0	1	1	1	0	1	1.000000	20	15	0	14	0	0	0	0	0	14	3
CNOT11	55571	broad.mit.edu	37	2	101883155	101883155	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:101883155A>G	ENST00000289382.3	+	5	1215	c.1052A>G	c.(1051-1053)gAa>gGa	p.E351G		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11	65	80	0	104																		GGTGAGTTGGAAAAAGACCCC	0.398000													1	1	1	1	1	1	1.000000	72	89	0	116	1	9.999996e-01	13	21	0	116	5
TGFBRAP1	9392	broad.mit.edu	37	2	105924173	105924173	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:105924173C>A	ENST00000393359.2	-	2	1012	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G196C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	94	126	0	253	196	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)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGGGAGACGCCTGTGCTGTAA	0.622000													1	1	1	1	1	1	1.000000	100	134	0	260	0	0	0	0	0	260	5
MERTK	10461	broad.mit.edu	37	2	112786408	112786408	+	Silent	SNP	C	C	T	rs140956730		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:112786408C>T	ENST00000295408.4	+	19	3224	c.2967C>T	c.(2965-2967)gaC>gaT	p.D989D	MERTK_ENST00000409780.1_Silent_p.D813D|MERTK_ENST00000421804.2_Silent_p.D989D			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	25	29	0	67	989					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			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGTTTGCTGACGACTCCTCAG	0.502000													1	1	1	1	1	1	1.000000	26	35	0	76	1	9.999472e-01	9	19	0	76	5
ZC3H6	376940	broad.mit.edu	37	2	113067600	113067600	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:113067600T>C	ENST00000409871.1	+	4	876	c.475T>C	c.(475-477)Tac>Cac	p.Y159H	ZC3H6_ENST00000343936.4_Missense_Mutation_p.Y159H	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	10	19	0	36	159							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CTTTGGTAACTACGGTCAGGA	0.363000													1	1	1	1	1	1	0.999648	12	23	0	39	1	1.294452e-01	2	0	0	39	5
PCDP1	0	broad.mit.edu	37	2	120388230	120388230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:120388230C>T	ENST00000602047.1	+	19	2070	c.958C>T	c.(958-960)Cga>Tga	p.R320*	PCDP1_ENST00000413369.3_Nonsense_Mutation_p.R606*			Q4G0U5	PCDP1_HUMAN		27	31	0	80	606						cilium	calmodulin binding					Colorectal(110;0.196)					AAAGCTTGCCCGAGCCCTAAA	0.448000													1	1	1	1	1	1	1.000000	28	35	0	90	0	0	0	0	0	90	5
TMEM177	80775	broad.mit.edu	37	2	120438732	120438732	+	Silent	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:120438732G>T	ENST00000424086.1	+	2	776	c.303G>T	c.(301-303)ggG>ggT	p.G101G	TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000401466.1_Silent_p.G101G|TMEM177_ENST00000272521.6_Silent_p.G101G|TMEM177_ENST00000496203.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	145	225	0	388	101						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					TCCCTGCTGGGGCTGTGGTGG	0.562000													1	1	1	1	1	1	1.000000	159	246	0	415	1	9.999991e-01	14	22	0	415	5
WDR33	55339	broad.mit.edu	37	2	128471558	128471558	+	Silent	SNP	C	C	T	rs151283651		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:128471558C>T	ENST00000322313.4	-	18	3065	c.2907G>A	c.(2905-2907)ccG>ccA	p.P969P		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	14	39	0	100	969					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCTCTGACATCGGGCCCATGT	0.612000													0	0	1	0	0	1	0.999999	20	52	0	100	1	9.971534e-01	10	19	0	100	1
FAM168B	130074	broad.mit.edu	37	2	131812977	131812977	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:131812977C>T	ENST00000409185.1	-	5	450	c.343G>A	c.(343-345)Gtc>Atc	p.V115I	FAM168B_ENST00000389915.3_Missense_Mutation_p.V115I	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	59	106	0	215	115										endometrium(3)|lung(2)	5						TGGTGGATGACGTGAGGAGGT	0.612000													1	1	1	1	1	1	1.000000	63	117	0	230	1	9.670233e-01	4	9	0	230	5
TUBA3D	113457	broad.mit.edu	37	2	132236920	132236920	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:132236920C>T	ENST00000321253.6	+	3	373	c.266C>T	c.(265-267)cCg>cTg	p.P89L	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	68	113	0	237	89					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCTTCCACCCGGAGCAGCTG	0.527000													1	1	1	1	1	1	1.000000	74	120	0	249	0	9.986829e-01	0	20	0	249	5
NCKAP5	344148	broad.mit.edu	37	2	133541791	133541791	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:133541791T>C	ENST00000409261.1	-	14	2966	c.2593A>G	c.(2593-2595)Att>Gtt	p.I865V	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.I865V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	42	71	0	180	865							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGTTTTGGAATGTGTGGATCT	0.537000													1	1	1	1	1	1	1.000000	42	80	0	190	0	0	0	0	0	190	5
MGAT5	4249	broad.mit.edu	37	2	135119889	135119889	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:135119889G>A	ENST00000409645.1	+	11	1542	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	MGAT5_ENST00000281923.2_Silent_p.Q430Q			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	86	119	0	246	430					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGGTTGAGCAGCACCTGAACT	0.458000													1	1	1	1	1	1	1.000000	88	124	0	258	0	0	0	0	0	258	5
LCT	3938	broad.mit.edu	37	2	136566315	136566315	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:136566315G>A	ENST00000264162.2	-	8	3612	c.3602C>T	c.(3601-3603)gCc>gTc	p.A1201V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	96	115	0	198	1201	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAAGACGTCGGCCGTCGCCCT	0.557000													1	1	1	1	1	1	1.000000	121	137	0	222	0	0	0	0	0	222	5
SCRN3	79634	broad.mit.edu	37	2	175292598	175292598	+	Missense_Mutation	SNP	A	A	G	rs76634317		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:175292598A>G	ENST00000272732.6	+	8	1332	c.1250A>G	c.(1249-1251)aAt>aGt	p.N417S	SCRN3_ENST00000548921.1_3'UTR|SCRN3_ENST00000409673.3_Missense_Mutation_p.N410S	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	13	21	0	62	417					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TATCAGTCAAATTTATCAGTC	0.323000													1	1	1	1	1	1	0.999842	13	23	0	65	1	9.996387e-01	10	22	0	65	5
TTN	7273	broad.mit.edu	37	2	179438269	179438269	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:179438269A>G	ENST00000589042.1	-	326	72814	c.72590T>C	c.(72589-72591)gTc>gCc	p.V24197A	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V22556A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V21629A|TTN_ENST00000359218.5_Missense_Mutation_p.V15257A|TTN_ENST00000342175.6_Missense_Mutation_p.V15324A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V15132A|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	81	158	0	219	22556	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAGCCATGACACGGAATAT	0.453000													1	1	1	1	1	1	1.000000	87	172	0	229	0	0	0	0	0	229	5
TTN	7273	broad.mit.edu	37	2	179575969	179575969	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:179575969C>T	ENST00000589042.1	-	97	28218	c.27994G>A	c.(27994-27996)Gtg>Atg	p.V9332M	TTN_ENST00000591111.1_Missense_Mutation_p.V9015M|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V8088M|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	63	124	0	207	9015	Ig-like 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACCAAGACACGGAGATAGGT	0.393000													1	1	1	1	1	1	1.000000	69	145	0	227	0	0	0	0	0	227	5
ANKAR	150709	broad.mit.edu	37	2	190606079	190606079	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:190606079G>C	ENST00000520309.1	+	20	3800	c.3712G>C	c.(3712-3714)Gca>Cca	p.A1238P	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.A1167P|ANKAR_ENST00000313581.4_Missense_Mutation_p.A1238P|ANKAR_ENST00000281412.6_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	25	42	0	76	1238						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAATTTAATAGCAAGCCTGGC	0.338000													1	1	1	1	1	1	1.000000	27	50	0	80	0	1.284810e-01	0	2	0	80	5
DNAH7	56171	broad.mit.edu	37	2	196922833	196922833	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:196922833G>A	ENST00000312428.6	-	2	123	c.23C>T	c.(22-24)tCg>tTg	p.S8L	DNAH7_ENST00000410072.1_Missense_Mutation_p.S8L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	31	33	0	74	8	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTGCTGGCCGATTTATCCTG	0.313000													1	1	1	1	1	1	1.000000	35	37	0	87	0	0	0	0	0	87	5
SF3B1	23451	broad.mit.edu	37	2	198274672	198274672	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:198274672G>A	ENST00000335508.5	-	7	817	c.726C>T	c.(724-726)agC>agT	p.S242S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	37	54	0	102	242	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAGGAGTCTCGCTTCCCTTTG	0.512000			Mis		myelodysplastic syndrome								1	1	1	1	1	1	1.000000	44	57	0	109	1	9.984039e-01	7	10	0	109	5
CCDC108	255101	broad.mit.edu	37	2	219883883	219883883	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:219883883G>A	ENST00000341552.5	-	21	3575	c.3492C>T	c.(3490-3492)ccC>ccT	p.P1164P	CCDC108_ENST00000453220.1_Silent_p.P1164P|CCDC108_ENST00000441968.1_Silent_p.P1164P	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	39	61	0	130	1164						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		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)		GGGTGAGGACGGGGGGGATCT	0.612000													1	1	1	1	1	1	1.000000	41	73	0	142	0	0	0	0	0	142	5
CCDC108	255101	broad.mit.edu	37	2	219895832	219895832	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:219895832A>G	ENST00000341552.5	-	8	1094	c.1011T>C	c.(1009-1011)gcT>gcC	p.A337A	CCDC108_ENST00000410037.1_Silent_p.A272A|CCDC108_ENST00000453220.1_Silent_p.A337A|CCDC108_ENST00000409865.3_Silent_p.A326A|CCDC108_ENST00000441968.1_Silent_p.A337A	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	4	6	0	12	337						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		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)		CCTCACCCACAGCCTGCAGCT	0.677000													0	0	1	1	1	1	0.903106	4	8	0	12	0	0	0	0	0	12	3
CNPPD1	27013	broad.mit.edu	37	2	220037432	220037432	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:220037432G>C	ENST00000409789.1	-	9	1536	c.1109C>G	c.(1108-1110)aCc>aGc	p.T370S	CNPPD1_ENST00000360507.5_Missense_Mutation_p.T370S			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	31	24	0	72	370	Pro-rich.				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CAGGCCATAGGTATGGTACCA	0.617000													1	1	1	1	1	1	1.000000	31	25	0	73	1	1	52	53	0	73	5
ZFAND2B	130617	broad.mit.edu	37	2	220073024	220073024	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:220073024G>A	ENST00000409594.1	+	5	676	c.481G>A	c.(481-483)Gtc>Atc	p.V161I	ZFAND2B_ENST00000409097.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.V161I|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.V161I			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	22	21	0	57	161						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TACAAGCACTGTCCCCAGCCC	0.547000													1	1	1	1	1	1	1.000000	25	23	0	63	1	1	42	34	0	63	5
ABCB6	10058	broad.mit.edu	37	2	220077176	220077176	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:220077176C>T	ENST00000265316.3	-	14	2217	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	ABCB6_ENST00000439002.2_Missense_Mutation_p.R588H	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	23	37	0	59	634	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)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		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)		AAACAGCAGGCGCAAAATTGT	0.512000													1	1	1	1	1	1	1.000000	29	41	0	66	1	9.999995e-01	22	21	0	66	5
IRS1	3667	broad.mit.edu	37	2	227661891	227661891	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:227661891G>A	ENST00000305123.4	-	1	2584	c.1564C>T	c.(1564-1566)Cga>Tga	p.R522*		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	23	59	0	125	522					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			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		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)		GTTCTCTTTCGGAACCGATTA	0.577000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	24	64	0	133	0	0	1	0	0	133	5
DNER	92737	broad.mit.edu	37	2	230223281	230223281	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:230223281G>A	ENST00000341772.4	-	13	2323	c.2189C>T	c.(2188-2190)aCa>aTa	p.T730I		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	32	30	0	76	730					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			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		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)		TTTAATCAGTGTGACCAAGGG	0.333000													1	1	1	1	1	1	1.000000	36	36	0	80	0	0	0	0	0	80	5
PTMA	5757	broad.mit.edu	37	2	232576653	232576653	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:232576653A>G	ENST00000409115.3	+	3	369	c.171A>G	c.(169-171)gaA>gaG	p.E57E	PTMA_ENST00000409683.1_Silent_p.E57E|PTMA_ENST00000341369.7_Silent_p.E58E|PTMA_ENST00000466801.1_3'UTR|PTMA_ENST00000410064.1_Silent_p.E83E|PTMA_ENST00000409321.1_Silent_p.E78E	NM_002823.4	NP_002814.3	P06454	PTMA_HUMAN	prothymosin, alpha	5	12	0	17	58	Asp/Glu-rich (acidic).				transcription, DNA-dependent	nucleus				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		aagaagaggaagaaggtgggg	0.517000													1	1	0	1	1	1	0.948337	5	12	0	17	1	1	467	2116	0	17	4
INPP5D	3635	broad.mit.edu	37	2	234070428	234070428	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:234070428C>T	ENST00000359570.5	+	13	1160	c.1160C>T	c.(1159-1161)cCg>cTg	p.P387L	INPP5D_ENST00000455936.2_Missense_Mutation_p.P151L|INPP5D_ENST00000538935.1_Missense_Mutation_p.P386L|INPP5D_ENST00000450745.1_Missense_Mutation_p.P151L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	13	10	0	37	399					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			central_nervous_system(1)|ovary(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)		TCAGAGCAGCCGGAGCCCGAC	0.587000													1	1	1	1	1	1	0.999972	14	11	0	44	0	0	0	0	0	44	5
HJURP	55355	broad.mit.edu	37	2	234750399	234750399	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:234750399C>T	ENST00000411486.2	-	8	1092	c.1027G>A	c.(1027-1029)Gta>Ata	p.V343I	HJURP_ENST00000432087.1_Missense_Mutation_p.V289I|HJURP_ENST00000441687.1_Missense_Mutation_p.V258I	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	20	23	0	49	343					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			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		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)		ACATCTAATACGTTCTTGCAA	0.438000													1	1	1	1	1	1	1.000000	20	23	0	49	1	9.918987e-01	6	7	0	49	5
RNPEPL1	57140	broad.mit.edu	37	2	241517019	241517019	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:241517019T>C	ENST00000270357.3	+	11	1788	c.1195T>C	c.(1195-1197)Tca>Cca	p.S399P	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	26	31	0	61	399					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		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)		CCTGCAGATGTCACGCATGTA	0.697000													1	1	1	1	1	1	1.000000	31	35	0	65	1	1	23	23	0	65	5
AGXT	189	broad.mit.edu	37	2	241808756	241808756	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:241808756C>T	ENST00000307503.3	+	2	722	c.335C>T	c.(334-336)gCc>gTc	p.A112V		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	41	41	0	98	112			A -> D (in HP1).		glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGGCAGCGAGCCGTGGACATC	0.647000													1	1	1	1	1	1	1.000000	45	50	0	109	0	0	0	0	0	109	5
MTERFD2	130916	broad.mit.edu	37	2	242036781	242036781	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:242036781A>G	ENST00000391980.2	-	3	640	c.582T>C	c.(580-582)atT>atC	p.I194I	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Silent_p.I6I|MTERFD2_ENST00000407095.3_Silent_p.I194I	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	23	26	0	55	194										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		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)		CAGTGTCGTTAATGTCCTGCT	0.463000													1	1	1	1	1	1	1.000000	28	36	0	58	1	9.843598e-01	8	3	0	58	5
LMCD1	29995	broad.mit.edu	37	3	8579029	8579029	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:8579029A>G	ENST00000157600.3	+	3	522	c.290A>G	c.(289-291)aAc>aGc	p.N97S	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000454244.1_Missense_Mutation_p.N24S|LMCD1_ENST00000535732.1_Missense_Mutation_p.N97S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	110	128	0	332	97					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			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TACAAGAGGAACCGGATGATC	0.537000													1	1	1	1	1	1	1.000000	124	141	0	344	1	6.343388e-01	2	2	0	344	5
BRPF1	7862	broad.mit.edu	37	3	9781177	9781177	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:9781177C>T	ENST00000383829.2	+	3	1498	c.1094C>T	c.(1093-1095)aCg>aTg	p.T365M	BRPF1_ENST00000424362.1_Missense_Mutation_p.T365M|BRPF1_ENST00000457855.1_Missense_Mutation_p.T365M|BRPF1_ENST00000433861.2_Missense_Mutation_p.T365M|BRPF1_ENST00000302054.3_Missense_Mutation_p.T365M	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	130	188	2	306	365					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			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TTCGCCAACACGGTCTTCCTA	0.592000													1	0	0	1	1	1	1.000000	153	216	2	342	0	0	0	1	2	342	3
NUP210	23225	broad.mit.edu	37	3	13399755	13399755	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:13399755C>T	ENST00000254508.5	-	16	2377	c.2295G>A	c.(2293-2295)atG>atA	p.M765I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	30	99	0	108	765					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCGGACAGGACATGTCCAGCT	0.657000													1	1	1	1	1	1	1.000000	36	122	0	123	0	0	0	1	0	123	5
CNOT10	25904	broad.mit.edu	37	3	32778914	32778914	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:32778914T>C	ENST00000328834.5	+	13	1843	c.1527T>C	c.(1525-1527)caT>caC	p.H509H	CNOT10_ENST00000454516.2_Silent_p.H569H|CNOT10_ENST00000331889.6_Intron|CNOT10_ENST00000538368.1_Silent_p.H281H|CNOT10-AS1_ENST00000475395.2_RNA	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	10	25	0	39	509				H -> Y (in Ref. 1; BAB14108).	nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GTAAAAGCCATGATGGAGATA	0.323000													1	1	1	1	0	1	0.999048	11	33	0	42	1	9.668947e-01	7	14	0	42	4
TRANK1	9881	broad.mit.edu	37	3	36873408	36873408	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:36873408A>G	ENST00000301807.6	-	21	7781	c.5884T>C	c.(5884-5886)Tcg>Ccg	p.S1962P	TRANK1_ENST00000429976.2_Missense_Mutation_p.S2512P|TRANK1_ENST00000428977.2_Missense_Mutation_p.S1962P	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	54	74	0	169	2512					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCCTCACCCGAGACCACATAG	0.527000													1	1	1	1	1	1	1.000000	63	81	0	178	0	1.912116e-01	1	1	0	178	5
ITGA9	3680	broad.mit.edu	37	3	37544757	37544757	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:37544757T>C	ENST00000264741.5	+	6	957	c.701T>C	c.(700-702)cTg>cCg	p.L234P	ITGA9_ENST00000422441.1_Missense_Mutation_p.L234P	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	35	49	0	63	234					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TATTTAAAACTGAACGACGAA	0.483000													1	1	1	1	1	1	1.000000	38	51	0	66	0	0	0	0	0	66	5
MYD88	4615	broad.mit.edu	37	3	38182689	38182689	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:38182689T>C	ENST00000417037.2	+	5	1050	c.866T>C	c.(865-867)cTg>cCg	p.L289P	MYD88_ENST00000424893.1_Missense_Mutation_p.L236P|MYD88_ENST00000443433.2_3'UTR|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000396334.3_Missense_Mutation_p.L281P|MYD88_ENST00000495303.1_3'UTR	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	61	80	1	149	268	TIR.				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			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCAGCATCCTGAGGTTCATC	0.552000			Mis		ABC-DLBCL								1	0	1	1	1	1	1.000000	63	89	1	155	1	9.996963e-01	13	9	1	155	4
GTDC2	0	broad.mit.edu	37	3	43122426	43122426	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:43122426G>A	ENST00000344697.2	-	2	843	c.498C>T	c.(496-498)caC>caT	p.H166H	GTDC2_ENST00000441964.1_Silent_p.H166H	NM_032806.4	NP_116195.2				42	62	0	129																		CATGAAAGACGTGCATGAGGT	0.642000													1	1	1	1	1	1	1.000000	42	63	0	133	1	9.643896e-01	5	6	0	133	5
LZTFL1	54585	broad.mit.edu	37	3	45879420	45879420	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:45879420T>C	ENST00000296135.6	-	2	301	c.128_splice	c.e2+1	p.R43_splice	LZTFL1_ENST00000490463.1_5'UTR|LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Splice_Site_p.R26_splice	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	37	45	0	65	43										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CTCTGATACCTGCTCTCCTTG	0.438000													1	0	1	1	1	1	1.000000	43	51	0	73	0	6.194772e-01	1	3	0	73	4
CELSR3	1951	broad.mit.edu	37	3	48686273	48686273	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:48686273G>A	ENST00000544264.1	-	19	6951	c.6671C>T	c.(6670-6672)aCt>aTt	p.T2224I	CELSR3_ENST00000164024.4_Missense_Mutation_p.T2219I			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	39	43	0	86	2219					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATAGTGGTCAGTGTGGCCAGT	0.597000													1	1	1	1	1	1	1.000000	46	47	0	91	0	0	0	1	0	91	5
PRKAR2A	5576	broad.mit.edu	37	3	48802450	48802450	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:48802450C>T	ENST00000265563.8	-	8	1109	c.860G>A	c.(859-861)cGc>cAc	p.R287H	PRKAR2A_ENST00000296446.8_Missense_Mutation_p.R287H|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.R287H	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	12	22	0	31	287					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		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		AGTGATTATGCGTTCTCCATC	0.408000													1	1	1	1	1	1	0.999930	14	23	0	33	1	6.244227e-01	3	2	0	33	5
MST1	4485	broad.mit.edu	37	3	49723549	49723549	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:49723549G>A	ENST00000449682.2	-	9	1454	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	17	15	0	32	351					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGGCCGCGCGCATGCCGGGC	0.672000													1	1	1	1	0	1	0.999996	17	18	0	34	1	9.932858e-01	5	8	0	34	4
MORC1	27136	broad.mit.edu	37	3	108812302	108812302	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:108812302T>C	ENST00000232603.5	-	8	752	c.670A>G	c.(670-672)Atg>Gtg	p.M224V	MORC1_ENST00000483760.1_Missense_Mutation_p.M224V	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	22	31	0	69	224					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GCTCCAGCCATCAGTATATCT	0.423000													1	1	1	1	1	1	1.000000	24	37	0	78	0	0	0	0	0	78	5
BOC	91653	broad.mit.edu	37	3	112998226	112998226	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:112998226A>C	ENST00000495514.1	+	12	2648	c.1944A>C	c.(1942-1944)aaA>aaC	p.K648N	BOC_ENST00000355385.3_Missense_Mutation_p.K648N|BOC_ENST00000273395.4_Missense_Mutation_p.K649N			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	33	54	0	106	648	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGCTAAAGAAAGTGGGAGACT	0.612000													1	1	1	1	1	1	1.000000	35	60	0	114	0	0	0	1	0	114	5
POLQ	10721	broad.mit.edu	37	3	121190985	121190985	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:121190985T>C	ENST00000264233.5	-	22	6698	c.6570A>G	c.(6568-6570)ttA>ttG	p.L2190L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	15	27	0	33	2190					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			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTAAAGGATGTAATGCCTTTA	0.348000								DNA polymerases (catalytic subunits)					1	1	1	1	1	1	0.999995	18	36	0	35	0	0	0	0	0	35	5
HCLS1	3059	broad.mit.edu	37	3	121351302	121351302	+	Missense_Mutation	SNP	C	C	T	rs149387044		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:121351302C>T	ENST00000314583.3	-	12	1208	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.E336K	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	102	144	0	272	373					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			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TTctcaggctcgggctcaggc	0.607000													1	1	1	1	1	1	1.000000	115	159	0	296	0	9.756949e-01	0	11	0	296	5
DTX3L	151636	broad.mit.edu	37	3	122289431	122289431	+	Missense_Mutation	SNP	G	G	A	rs142707005		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:122289431G>A	ENST00000296161.4	+	4	2254	c.2065G>A	c.(2065-2067)Gtg>Atg	p.V689M	DTX3L_ENST00000383661.3_Missense_Mutation_p.V177M	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	34	57	0	95	689					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GATTTTTACAGTGGGGTACTC	0.433000													1	1	1	1	1	1	1.000000	37	61	0	101	1	4.887737e-01	2	2	0	101	5
MYLK	4638	broad.mit.edu	37	3	123348433	123348433	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:123348433C>T	ENST00000360304.3	-	30	5283	c.5002G>A	c.(5002-5004)Gaa>Aaa	p.E1668K	MYLK_ENST00000360772.3_Intron|MYLK_ENST00000354792.5_Missense_Mutation_p.E468K|MYLK_ENST00000359169.1_Intron|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.E1599K|MYLK_ENST00000475616.1_Missense_Mutation_p.E1668K|MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000485162.1_RNA	NM_053025.3	NP_444253.3	Q15746	MYLK_HUMAN	myosin light chain kinase	38	35	0	120	1668	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCCAAGGTTTCGTTATCGTTG	0.557000													1	1	1	1	1	1	1.000000	44	44	0	129	0	5.000000e-01	0	3	0	129	5
MYLK	4638	broad.mit.edu	37	3	123419539	123419539	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:123419539G>A	ENST00000360772.3	-	19	3154	c.2776C>T	c.(2776-2778)Cgt>Tgt	p.R926C	MYLK_ENST00000360304.3_Missense_Mutation_p.R926C|MYLK_ENST00000359169.1_Missense_Mutation_p.R926C|MYLK_ENST00000346322.5_Missense_Mutation_p.R857C|MYLK_ENST00000475616.1_Missense_Mutation_p.R926C			Q15746	MYLK_HUMAN	myosin light chain kinase	37	54	0	118	926	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		AGGTTGGCACGGAAATCCATC	0.572000													1	1	1	1	1	1	1.000000	39	57	0	124	0	0	0	0	0	124	5
MCM2	4171	broad.mit.edu	37	3	127335929	127335929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:127335929C>T	ENST00000265056.7	+	10	1985	c.1741C>T	c.(1741-1743)Cga>Tga	p.R581*		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	82	98	0	171	581	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	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TCTGGCTGACCGAGGAGTGTG	0.647000													1	1	1	1	1	1	1.000000	96	112	0	187	1	9.642001e-01	3	6	0	187	5
DNAJB8	165721	broad.mit.edu	37	3	128181453	128181453	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:128181453G>A	ENST00000469083.1	-	2	3193	c.636C>T	c.(634-636)gaC>gaT	p.D212D	DNAJB8_ENST00000319153.3_Silent_p.D212D			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	90	100	0	188	212					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGAGCTGCCCGTCTTCCTCCA	0.612000													1	1	1	1	1	1	1.000000	106	121	0	209	0	0	0	0	0	209	5
ZIC4	84107	broad.mit.edu	37	3	147113791	147113791	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:147113791G>A	ENST00000383075.3	-	3	1048	c.536C>T	c.(535-537)cCg>cTg	p.P179L	ZIC4_ENST00000484399.1_Missense_Mutation_p.P179L|ZIC4_ENST00000425731.3_Missense_Mutation_p.P217L|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Missense_Mutation_p.P229L|ZIC4_ENST00000473123.1_Missense_Mutation_p.P179L	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	25	190	0	308	179						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCCCTGGCGCGGACACTCCTC	0.587000													1	1	1	1	1	1	1.000000	28	226	0	338	0	0	0	0	0	338	5
PFN2	5217	broad.mit.edu	37	3	149684300	149684300	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:149684300T>C	ENST00000239940.7	-	3	651	c.399A>G	c.(397-399)aaA>aaG	p.K133K	PFN2_ENST00000481767.1_Intron|PFN2_ENST00000490975.1_Silent_p.K118K|PFN2_ENST00000489155.1_Silent_p.K84K|PFN2_ENST00000475518.1_Silent_p.K84K|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000497148.1_Silent_p.K84K|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000498307.1_Silent_p.K84K|PFN2_ENST00000481275.1_Silent_p.K84K|PFN2_ENST00000494827.1_Intron			P35080	PROF2_HUMAN	profilin 2	269	327	0	445	133					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTCTCAAGTATTTTGCCATTG	0.393000													1	1	1	1	1	1	1.000000	310	387	0	510	1	1	150	8	0	510	5
P2RY12	0	broad.mit.edu	37	3	151056503	151056503	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:151056503C>T	ENST00000302632.3	-	3	430	c.131G>A	c.(130-132)gGc>gAc	p.G44D	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	19	36	0	43	44					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	CATCGCCAGGCCATTTGTGAT	0.403000													1	1	1	1	1	1	0.999999	20	37	0	45	0	0	0	0	0	45	5
ARHGEF26	26084	broad.mit.edu	37	3	153870684	153870684	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:153870684T>C	ENST00000356448.4	+	6	1734	c.1450T>C	c.(1450-1452)Ttc>Ctc	p.F484L	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.F484L	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	3	13	0	17	484	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GCACCATCTTTTCTCCAATAT	0.378000													1	1	1	1	1	1	0.897419	4	16	0	19	0	0	0	0	0	19	5
PLCH1	23007	broad.mit.edu	37	3	155206447	155206447	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:155206447A>G	ENST00000460012.1	-	20	2807		c.e20+1		PLCH1_ENST00000494598.1_Splice_Site|PLCH1_ENST00000447496.2_Splice_Site|PLCH1_ENST00000340059.7_Splice_Site|PLCH1_ENST00000334686.6_Splice_Site|PLCH1_ENST00000414191.1_Splice_Site			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	24	28	0	81						lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCTCATACCTACCAGGCACTA	0.408000													1	1	1	1	1	1	1.000000	29	34	0	89	0	0	0	0	0	89	5
SI	6476	broad.mit.edu	37	3	164712126	164712126	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:164712126T>C	ENST00000264382.3	-	41	4822	c.4760A>G	c.(4759-4761)tAc>tGc	p.Y1587C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	30	27	0	75	1587	Sucrase.				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			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAATAAGGTGTATCTAATATT	0.348000										HNSCC(35;0.089)			1	1	1	1	1	1	1.000000	30	28	0	80	0	2.710383e-01	1	1	0	80	5
GOLIM4	27333	broad.mit.edu	37	3	167754717	167754717	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:167754717A>G	ENST00000470487.1	-	8	1439	c.750T>C	c.(748-750)ccT>ccC	p.P250P	GOLIM4_ENST00000309027.4_Silent_p.P222P	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	53	93	0	137	250					transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGCTGGATCAGGTTTTCGAA	0.453000													1	1	1	1	1	1	1.000000	55	100	0	143	0	9.139882e-01	1	9	0	143	5
PHC3	80012	broad.mit.edu	37	3	169846643	169846643	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:169846643C>T	ENST00000494943.1	-	8	1649	c.1581G>A	c.(1579-1581)caG>caA	p.Q527Q	PHC3_ENST00000467570.1_Silent_p.Q486Q|PHC3_ENST00000495893.1_Silent_p.Q539Q			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	69	74	0	170	527	Gln-rich.|Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|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;0.0655)			GAATTTCAGGCTGCACTTGTA	0.507000													1	1	1	1	1	1	1.000000	74	79	0	188	0	0	0	1	0	188	5
MFN1	55669	broad.mit.edu	37	3	179107816	179107816	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:179107816C>T	ENST00000471841.1	+	17	2163	c.2037C>T	c.(2035-2037)cgC>cgT	p.R679R	MFN1_ENST00000280653.7_Silent_p.R568R|MFN1_ENST00000263969.5_Silent_p.R679R	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	10	17	0	40	679					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	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)			CTTTTGCTCGCCTGTGCCAAC	0.299000													1	1	1	1	1	1	0.999673	12	21	0	44	1	9.996729e-01	16	17	0	44	5
YEATS2	55689	broad.mit.edu	37	3	183515755	183515755	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:183515755G>A	ENST00000305135.5	+	22	3337	c.3142G>A	c.(3142-3144)Gtc>Atc	p.V1048I		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	29	35	0	81	1048					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	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)			GCAGCAGGCCGTCCTGACGAT	0.512000													1	1	1	1	1	1	1.000000	30	37	0	88	1	9.255675e-01	6	2	0	88	5
DVL3	1857	broad.mit.edu	37	3	183888361	183888361	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:183888361G>A	ENST00000313143.3	+	15	2217	c.1969G>A	c.(1969-1971)Gga>Aga	p.G657R	DVL3_ENST00000431765.1_Missense_Mutation_p.G640R|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	19	13	0	36	657					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			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CGGTCCTCCCGGAGTGCCCCC	0.746000													1	1	1	1	0	1	1.000000	20	21	0	41	1	1	34	27	0	41	4
MASP1	5648	broad.mit.edu	37	3	186953726	186953726	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:186953726C>T	ENST00000296280.6	-	11	2158	c.1933G>A	c.(1933-1935)Gag>Aag	p.E645K	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.E532K|MASP1_ENST00000495249.1_5'UTR	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	23	34	0	84	627	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			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AACATGTTCTCCGTGACGCTG	0.547000													1	1	1	1	1	1	1.000000	25	41	0	88	0	0	0	0	0	88	5
FGF12	2257	broad.mit.edu	37	3	192053197	192053197	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:192053197C>T	ENST00000454309.2	-	3	1192	c.367G>A	c.(367-369)Gct>Act	p.A123T	FGF12_ENST00000430714.1_Missense_Mutation_p.A24T|FGF12_ENST00000264730.3_Missense_Mutation_p.A61T|FGF12_ENST00000450716.1_Missense_Mutation_p.A61T|FGF12_ENST00000445105.1_Missense_Mutation_p.A61T	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	15	36	1	99	123					cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	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)		TAGAGGCTAGCCTTCACTCCT	0.478000													1	0	1	1	1	1	0.999841	18	46	1	113	0	8.593397e-02	0	2	1	113	4
FBXO45	200933	broad.mit.edu	37	3	196304421	196304421	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:196304421A>G	ENST00000311630.6	+	2	713	c.416A>G	c.(415-417)cAg>cGg	p.Q139R	FBXO45_ENST00000440469.1_5'UTR	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	13	20	0	55	139	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCCATTGCTCAGAGCACTGAT	0.498000													1	1	1	1	1	1	0.999973	15	21	0	62	0	0	0	0	0	62	5
MFI2	4241	broad.mit.edu	37	3	196730857	196730857	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:196730857T>C	ENST00000296350.5	-	15	2165	c.2052A>G	c.(2050-2052)ggA>ggG	p.G684G	MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000414354.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	184	242	0	434	684	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	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)		TGGTTTTCTCTCCGACAGGCA	0.607000													1	1	1	1	1	1	1.000000	216	277	0	471	1	9.999992e-01	4	10	0	471	5
MFI2	4241	broad.mit.edu	37	3	196733483	196733483	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:196733483G>A	ENST00000296350.5	-	14	1988	c.1875C>T	c.(1873-1875)caC>caT	p.H625H		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	17	39	0	68	625	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	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)		CCATCACGGCGTGGGGTGGTA	0.627000													1	1	1	1	1	1	0.999999	20	46	0	79	1	7.464610e-01	6	2	0	79	5
FGFRL1	53834	broad.mit.edu	37	4	1017702	1017702	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1017702C>T	ENST00000398484.2	+	6	1111	c.531C>T	c.(529-531)caC>caT	p.H177H	FGFRL1_ENST00000504138.1_Silent_p.H177H|FGFRL1_ENST00000264748.6_Silent_p.H177H|FGFRL1_ENST00000510644.1_Silent_p.H177H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	6	8	0	17	177	Ig-like C2-type 2.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCAGCGGGCACCCTCGGCCCG	0.667000													1	1	1	1	0	1	0.989857	7	8	0	18	0	4.582043e-01	1	2	0	18	4
UVSSA	57654	broad.mit.edu	37	4	1360206	1360206	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1360206G>A	ENST00000389851.4	+	8	1722	c.1275G>A	c.(1273-1275)ttG>ttA	p.L425L	UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000511216.1_Silent_p.L425L|UVSSA_ENST00000507531.1_Silent_p.L425L	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	68	99	0	151	425																	CCGACCACTTGCGGCCTGAGT	0.637000													1	1	1	1	0	1	1.000000	73	107	0	156	0	0	0	1	0	156	4
TACC3	10460	broad.mit.edu	37	4	1729657	1729657	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1729657C>T	ENST00000313288.4	+	4	634	c.528C>T	c.(526-528)ggC>ggT	p.G176G		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	58	73	0	129	176						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAGTGTCTGGCAGCCCTGAGC	0.552000													1	1	1	1	1	1	1.000000	59	84	0	138	1	9.999950e-01	14	18	0	138	5
NELFA	7469	broad.mit.edu	37	4	1988038	1988038	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:1988038C>T	ENST00000382882.3	-	5	1876	c.759G>A	c.(757-759)ccG>ccA	p.P253P	NELFA_ENST00000542778.1_Silent_p.P107P|NELFA_ENST00000411638.1_Silent_p.P242P	NM_005663.4	NP_005654.3			negative elongation factor complex member A	10	7	0	11																		TCCTGGAAGGCGGGATGGGGG	0.697000													0	1	1	1	1	1	0.999955	13	8	0	12	1	1	26	26	0	12	4
HAUS3	79441	broad.mit.edu	37	4	2242253	2242253	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:2242253C>T	ENST00000243706.4	-	2	650	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.E141K|HAUS3_ENST00000443786.2_Missense_Mutation_p.E141K	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	26	40	0	62	141					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCTTCTTCTTCTTTAGCATTT	0.353000													1	1	1	1	1	1	1.000000	30	42	0	66	1	9.694929e-01	5	6	0	66	5
JAKMIP1	152789	broad.mit.edu	37	4	6031488	6031488	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:6031488G>A	ENST00000409021.3	-	20	2849	c.2400C>T	c.(2398-2400)gaC>gaT	p.D800D	JAKMIP1_ENST00000409371.3_Silent_p.D615D	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	5	9	0	11	571					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTCCAGTTTGTCCTCCAGTT	0.418000													0	0	1	1	1	1	0.949096	5	11	0	12	0	0	0	0	0	12	3
WFS1	7466	broad.mit.edu	37	4	6302765	6302765	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:6302765G>A	ENST00000226760.1	+	8	1413	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	WFS1_ENST00000503569.1_Missense_Mutation_p.V415I	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	78	114	0	246	415			Missing (in WFS).		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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGTCTTCTTCGTCATCTTCTC	0.597000													1	1	1	1	1	1	1.000000	88	126	0	266	1	9.571341e-01	6	4	0	266	5
GPR78	27201	broad.mit.edu	37	4	8588799	8588799	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:8588799C>A	ENST00000382487.4	+	3	1218	c.801C>A	c.(799-801)ccC>ccA	p.P267P	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	24	36	0	65	267					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						AGCTCGTGCCCTTCGTCACCG	0.652000													1	1	1	1	1	1	1.000000	26	42	0	72	0	0	0	0	0	72	5
DRD5	0	broad.mit.edu	37	4	9784646	9784646	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:9784646C>T	ENST00000304374.2	+	1	1389	c.993C>T	c.(991-993)gcC>gcT	p.A331A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	84	84	0	222	331					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				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GCCCTCCGGCCGGCTTCCCCT	0.592000													1	1	1	1	1	1	1.000000	96	94	0	240	0	0	0	0	0	240	5
ZNF518B	85460	broad.mit.edu	37	4	10447381	10447381	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:10447381T>C	ENST00000326756.3	-	3	1010	c.572A>G	c.(571-573)cAg>cGg	p.Q191R		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	71	73	0	169	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATACTCACACTGATAAGGAAA	0.403000													1	1	1	1	1	1	1.000000	73	75	0	176	0	0	0	1	0	176	5
SLC34A2	10568	broad.mit.edu	37	4	25675930	25675930	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:25675930C>A	ENST00000382051.3	+	11	1279	c.1229C>A	c.(1228-1230)cCc>cAc	p.P410H	SLC34A2_ENST00000503434.1_Missense_Mutation_p.P409H|SLC34A2_ENST00000504570.1_Missense_Mutation_p.P409H	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	22	45	0	75	410					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		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TTCCCCTTTCCCTTTGCATGG	0.602000			T	ROS1	NSCLC								1	1	1	1	1	1	1.000000	23	46	0	75	0	0	0	0	0	75	5
UGT2B28	54490	broad.mit.edu	37	4	70156526	70156526	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:70156526C>A	ENST00000335568.5	+	5	1309	c.1307C>A	c.(1306-1308)cCt>cAt	p.P436H	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	48	68	0	190	436					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATTAATGATCCTTCGTGAGTA	0.398000													1	1	1	1	0	1	1.000000	52	73	0	190	0	0	0	0	0	190	4
AFP	174	broad.mit.edu	37	4	74315095	74315095	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:74315095T>C	ENST00000395792.2	+	9	1202	c.1102T>C	c.(1102-1104)Tca>Cca	p.S368P	AFP_ENST00000226359.2_Missense_Mutation_p.S368P	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	28	41	0	52	368	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	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)			GCTTGCTGTCTCAGTAATTCT	0.373000									Alpha-Fetoprotein, Hereditary Persistence of				1	1	1	1	1	1	1.000000	29	44	0	53	0	0	0	0	0	53	5
SCARB2	950	broad.mit.edu	37	4	77091020	77091020	+	Splice_Site	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:77091020A>C	ENST00000264896.2	-	8	1462	c.1113_splice	c.e8+1	p.P371_splice	SCARB2_ENST00000452464.2_Splice_Site_p.P228_splice	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	38	61	0	112	371					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			ATGTACTCACAGGATTAATGT	0.393000													1	1	1	1	1	1	1.000000	42	69	0	123	1	1	30	43	0	123	5
SEC31A	22872	broad.mit.edu	37	4	83788042	83788042	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:83788042C>T	ENST00000432794.1	-	10	1279	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	SEC31A_ENST00000505472.1_Silent_p.Q372Q|SEC31A_ENST00000264405.5_Silent_p.Q144Q|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000348405.4_Silent_p.Q372Q|SEC31A_ENST00000508479.1_Silent_p.Q372Q|SEC31A_ENST00000448323.1_Silent_p.Q372Q|SEC31A_ENST00000355196.2_Silent_p.Q372Q|SEC31A_ENST00000508502.1_Silent_p.Q372Q|SEC31A_ENST00000311785.7_Silent_p.Q372Q|SEC31A_ENST00000443462.2_Silent_p.Q367Q|SEC31A_ENST00000395310.2_Silent_p.Q372Q|SEC31A_ENST00000326950.5_Silent_p.Q372Q|SEC31A_ENST00000509142.1_Silent_p.Q372Q|SEC31A_ENST00000500777.2_Silent_p.Q372Q|SEC31A_ENST00000513858.1_Silent_p.Q372Q|SEC31A_ENST00000505984.1_Silent_p.Q372Q			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	70	95	0	197	372	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/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAGCAGTCTGCTGTGGAATTT	0.433000													1	1	1	1	1	1	1.000000	80	105	0	210	1	9.916407e-01	6	7	0	210	5
AGPAT9	84803	broad.mit.edu	37	4	84502845	84502845	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:84502845C>T	ENST00000395226.2	+	4	557	c.339C>T	c.(337-339)acC>acT	p.T113T	AGPAT9_ENST00000264409.4_Silent_p.T113T	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	59	102	0	188	113					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				ATGAAGTGACCCAGAGGTTTT	0.468000													1	1	1	1	1	1	1.000000	63	111	0	200	0	0	0	0	0	200	5
MMRN1	22915	broad.mit.edu	37	4	90816607	90816607	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:90816607C>G	ENST00000394980.1	+	2	804	c.485C>G	c.(484-486)aCt>aGt	p.T162S	MMRN1_ENST00000394981.1_Missense_Mutation_p.T128S|MMRN1_ENST00000264790.2_Missense_Mutation_p.T162S			Q13201	MMRN1_HUMAN	multimerin 1	35	39	0	94	162					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTtggaggcactggaggcatt	0.507000													1	1	1	1	1	1	1.000000	38	41	0	97	0	0	0	0	0	97	5
SEC24B	10427	broad.mit.edu	37	4	110384778	110384778	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:110384778G>A	ENST00000265175.5	+	2	910	c.855G>A	c.(853-855)gcG>gcA	p.A285A	SEC24B_ENST00000399100.2_Silent_p.A285A|SEC24B_ENST00000504968.2_Silent_p.A316A	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	30	57	0	117	285					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			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGGCTGTAGCGAACAACAACC	0.413000													1	1	1	1	1	1	1.000000	35	63	0	124	0	0	0	0	0	124	5
PCDH10	57575	broad.mit.edu	37	4	134073201	134073201	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:134073201G>A	ENST00000264360.4	+	1	2732	c.1906G>A	c.(1906-1908)Ggg>Agg	p.G636R		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	43	67	0	136	636	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGGCGCACCGGGGAGCTGCG	0.682000													1	1	1	1	1	1	1.000000	46	80	0	155	1	9.999212e-01	16	14	0	155	5
CLGN	1047	broad.mit.edu	37	4	141334145	141334145	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:141334145C>A	ENST00000325617.5	-	2	528	c.88G>T	c.(88-90)Gac>Tac	p.D30Y	CLGN_ENST00000537281.1_Missense_Mutation_p.D30Y|CLGN_ENST00000414773.1_Missense_Mutation_p.D30Y	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	11	31	0	52	30					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	p.D30N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCTTCAAAGTCTTCCGTCTCA	0.328000													1	1	1	1	1	1	0.999078	11	31	0	56	0	0	1	0	0	56	5
ARHGAP10	79658	broad.mit.edu	37	4	148984433	148984433	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:148984433C>T	ENST00000336498.3	+	21	2401	c.2162C>T	c.(2161-2163)gCg>gTg	p.A721V	ARHGAP10_ENST00000414545.2_Intron	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	18	29	0	70	721					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCTACTGTAGCGGACAAGCCA	0.532000													1	1	1	1	0	1	0.999996	18	31	0	80	1	8.335300e-01	2	6	0	80	4
FHDC1	85462	broad.mit.edu	37	4	153864220	153864220	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:153864220T>G	ENST00000511601.1	+	2	199	c.11T>G	c.(10-12)aTg>aGg	p.M4R	FHDC1_ENST00000260008.3_Missense_Mutation_p.M4R			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	37	32	0	62	4					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ATGCATGTTATGAATTGTGTC	0.448000													1	1	1	1	1	1	1.000000	44	38	0	69	0	0	0	0	0	69	5
SORBS2	8470	broad.mit.edu	37	4	186567832	186567832	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:186567832T>C	ENST00000431808.1	-	11	1237	c.674A>G	c.(673-675)cAt>cGt	p.H225R	SORBS2_ENST00000418609.1_Missense_Mutation_p.H129R|SORBS2_ENST00000319471.9_Missense_Mutation_p.H311R|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000284776.7_Missense_Mutation_p.H225R|SORBS2_ENST00000393528.3_Missense_Mutation_p.H271R|SORBS2_ENST00000437304.2_Missense_Mutation_p.H404R|SORBS2_ENST00000449407.2_Missense_Mutation_p.H296R|SORBS2_ENST00000355634.5_Missense_Mutation_p.H325R|SORBS2_ENST00000448662.2_Missense_Mutation_p.H294R			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	29	33	0	67	225						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		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)		TGGTCTTTCATGCTGAAGAAT	0.438000													1	1	1	1	1	1	1.000000	30	35	0	72	0	0	0	0	0	72	5
KLKB1	3818	broad.mit.edu	37	4	187159508	187159508	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:187159508T>C	ENST00000264690.6	+	6	774	c.587T>C	c.(586-588)cTt>cCt	p.L196P	KLKB1_ENST00000513864.1_Missense_Mutation_p.L196P	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	32	45	0	90	196					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		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)		CCCTGTGCCCTTTCAGAAATT	0.498000													1	1	1	1	1	1	1.000000	34	54	0	94	0	0	0	1	0	94	5
PLEKHG4B	153478	broad.mit.edu	37	5	155041	155041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:155041C>T	ENST00000283426.6	+	6	1026	c.976C>T	c.(976-978)Cag>Tag	p.Q326*		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	36	39	0	83	326					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGACAGCTGCCAGCTGACCGC	0.577000													1	1	1	1	1	1	1.000000	36	41	0	93	0	7.629167e-01	0	5	0	93	5
SLC9A3	6550	broad.mit.edu	37	5	476346	476346	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:476346G>A	ENST00000264938.3	-	13	2047	c.2038C>T	c.(2038-2040)Ctg>Ttg	p.L680L	CTD-2228K2.7_ENST00000606319.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.L671L|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	18	46	0	62	680						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGCTTGTACAGCTTGGCCGCC	0.647000													1	1	1	1	1	1	1.000000	22	51	0	66	0	9.684211e-02	1	1	0	66	5
RXFP3	51289	broad.mit.edu	37	5	33937225	33937225	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:33937225C>T	ENST00000330120.3	+	1	735	c.380C>T	c.(379-381)aCg>aTg	p.T127M		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	54	89	0	155	127						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CTGGCGCTGACGGACTTTCAG	0.572000													1	1	1	1	1	1	1.000000	61	99	0	171	0	0	0	0	0	171	5
DAB2	1601	broad.mit.edu	37	5	39383336	39383336	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:39383336T>C	ENST00000545653.1	-	9	1192	c.662A>G	c.(661-663)gAa>gGa	p.E221G	DAB2_ENST00000509337.1_Missense_Mutation_p.E221G|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000320816.6_Missense_Mutation_p.E242G	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	49	70	0	150	242					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			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGTGTCGATTTCAGAGTTTAG	0.383000													1	1	1	1	1	1	1.000000	54	77	0	164	0	0	0	1	0	164	5
C7	730	broad.mit.edu	37	5	40964971	40964971	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:40964971T>A	ENST00000313164.9	+	14	2237	c.1878T>A	c.(1876-1878)tgT>tgA	p.C626*		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	59	98	0	163	626	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAATGCATTGTCAGAGTGAGT	0.398000													1	1	1	1	1	1	1.000000	68	120	0	184	0	0	0	0	0	184	5
DHX29	54505	broad.mit.edu	37	5	54570837	54570837	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:54570837T>C	ENST00000251636.5	-	15	2577	c.2427_splice	c.e15-1	p.E810_splice	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	38	27	0	46	810							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TGGGATGTATTCCTAAAAGAA	0.358000													1	1	1	1	1	1	1.000000	44	29	0	49	0	8.148378e-01	1	3	0	49	5
PDE4D	5144	broad.mit.edu	37	5	58476445	58476445	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:58476445A>T	ENST00000340635.6	-	5	959	c.784T>A	c.(784-786)Tcc>Acc	p.S262T	PDE4D_ENST00000503258.1_Missense_Mutation_p.S132T|PDE4D_ENST00000502575.1_Missense_Mutation_p.S198T|PDE4D_ENST00000360047.5_Missense_Mutation_p.S126T|PDE4D_ENST00000546160.1_Missense_Mutation_p.S201T|PDE4D_ENST00000502484.2_Missense_Mutation_p.S201T|PDE4D_ENST00000503947.1_5'UTR|PDE4D_ENST00000507116.1_Missense_Mutation_p.S198T|PDE4D_ENST00000405755.2_Missense_Mutation_p.S140T	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	11	19	0	35	262					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)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		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)	TTGTTGATGGATGGTTGGTTG	0.398000													1	1	1	1	1	1	0.999660	12	22	0	40	0	0	0	0	0	40	5
VCAN	1462	broad.mit.edu	37	5	82837257	82837257	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:82837257T>C	ENST00000265077.3	+	8	9000	c.8435T>C	c.(8434-8436)tTa>tCa	p.L2812S	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.L1825S|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	88	77	0	153	2812	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		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)		GATACAACATTAGCAGTTTCA	0.458000													1	1	1	1	1	1	1.000000	95	82	0	163	1	5.540747e-01	2	1	0	163	5
EDIL3	10085	broad.mit.edu	37	5	83239262	83239262	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:83239262C>A	ENST00000296591.5	-	11	1837	c.1419G>T	c.(1417-1419)ctG>ctT	p.L473L	EDIL3_ENST00000380138.3_Silent_p.L463L	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	25	50	0	79	473	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		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)		TGCAGCCCAGCAGCTCTGACC	0.483000													1	1	1	1	1	1	1.000000	26	55	0	84	0	0	0	0	0	84	5
FER	2241	broad.mit.edu	37	5	108203563	108203563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:108203563C>T	ENST00000281092.4	+	6	961	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	FER_ENST00000438717.2_Nonsense_Mutation_p.Q18*|FER_ENST00000536402.1_Nonsense_Mutation_p.Q193*	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	17	41	0	53	193	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		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)		GAAAGGGGCACAGCTCCATCA	0.403000													1	1	1	1	1	1	0.999995	18	43	0	58	0	9.424603e-02	1	1	0	58	5
MCC	4163	broad.mit.edu	37	5	112824031	112824031	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:112824031G>A	ENST00000408903.3	-	1	496	c.81C>T	c.(79-81)agC>agT	p.S27S		NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	24	10	0	35	555					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			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		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)		TGTcgctgctgctgctgctgc	0.741000													1	0	1	1	0	1	1.000000	25	10	0	37	0	0	0	0	0	37	3
SEMA6A	57556	broad.mit.edu	37	5	115783143	115783143	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:115783143C>T	ENST00000343348.6	-	19	3046	c.2259G>A	c.(2257-2259)acG>acA	p.T753T	SEMA6A_ENST00000510263.1_Silent_p.T753T|SEMA6A_ENST00000513137.1_Silent_p.T180T|SEMA6A_ENST00000503865.1_Silent_p.T132T|SEMA6A_ENST00000282394.6_Silent_p.T230T|SEMA6A_ENST00000257414.8_Silent_p.T770T	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	172	144	0	310	753					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		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)		TGGGGAGGGCCGTCAGGTCCA	0.632000													1	1	1	1	1	1	1.000000	197	155	0	331	1	8.762505e-01	4	1	0	331	5
SNX2	6643	broad.mit.edu	37	5	122165305	122165305	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:122165305T>C	ENST00000379516.2	+	15	1630	c.1522T>C	c.(1522-1524)Tgg>Cgg	p.W508R	SNX2_ENST00000514949.1_Missense_Mutation_p.W391R|SNX2_ENST00000510372.1_3'UTR	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	21	50	0	64	508					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		GATAAAATACTGGGAAGCATT	0.343000													1	1	1	1	1	1	1.000000	25	58	0	67	1	1	79	135	0	67	5
TIFAB	497189	broad.mit.edu	37	5	134785404	134785404	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:134785404T>C	ENST00000537858.1	-	2	426	c.226A>G	c.(226-228)Aag>Gag	p.K76E		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	115	95	0	194	76	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCAGGGCCTTGAGGCAGAAG	0.662000													1	1	1	1	1	1	1.000000	130	102	0	212	0	0	0	0	0	212	5
TGFBI	7045	broad.mit.edu	37	5	135392371	135392371	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:135392371T>C	ENST00000442011.2	+	12	1726	c.1565T>C	c.(1564-1566)aTc>aCc	p.I522T	TGFBI_ENST00000305126.8_Missense_Mutation_p.I522T	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	28	63	0	117	522	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTAGCTGCCATCCAGTCTGCA	0.502000													1	1	1	1	1	1	1.000000	33	74	0	134	1	9.958796e-01	3	20	0	134	5
PSD2	84249	broad.mit.edu	37	5	139221883	139221883	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:139221883C>A	ENST00000274710.3	+	15	2345	c.2140C>A	c.(2140-2142)Ctc>Atc	p.L714I		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	21	52	0	62	714					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATATCCACCTCCTGGCTAT	0.473000													1	1	1	1	1	1	1.000000	24	59	0	67	1	6.486577e-01	2	5	0	67	5
ANKHD1	54882	broad.mit.edu	37	5	139906583	139906583	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:139906583C>T	ENST00000297183.6	+	27	5135	c.5011C>T	c.(5011-5013)Cca>Tca	p.P1671S	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P1671S|ANKHD1_ENST00000360839.2_Missense_Mutation_p.P1671S|ANKHD1_ENST00000544120.1_Missense_Mutation_p.P54S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1	15	77	0	65											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTAAGCTCTCCAAACATAAA	0.388000													1	1	1	1	1	1	0.999980	17	83	0	70	1	5.398416e-01	2	8	0	70	5
PCDHA6	0	broad.mit.edu	37	5	140208727	140208727	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140208727G>A	ENST00000529310.1	+	1	1165	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A351T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1				91	80	0	296											NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTGAGATAGCACTGACTTC	0.488000													0	0	1	1	0	1	1.000000	92	81	0	163	0	0	0	0	0	163	2
PCDHB6	0	broad.mit.edu	37	5	140531421	140531421	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140531421G>A	ENST00000231136.1	+	1	1583	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R392H	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		113	116	0	261	528	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGAGTTCCGCGTGGGCGCC	0.657000													1	1	1	1	1	1	1.000000	118	126	0	259	0	4.698951e-01	0	3	0	259	5
PCDHB16	0	broad.mit.edu	37	5	140564303	140564303	+	Silent	SNP	C	C	T	rs144790293	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140564303C>T	ENST00000361016.2	+	1	3324	c.2169C>T	c.(2167-2169)ggC>ggT	p.G723G		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		152	145	0	289	723					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCGGTGGGCCGCTGCTCGA	0.662000													1	1	1	1	0	1	1.000000	167	154	0	307	0	9.997773e-01	0	16	0	307	4
PCDHB15	0	broad.mit.edu	37	5	140627364	140627364	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140627364A>G	ENST00000231173.3	+	1	2218	c.2218A>G	c.(2218-2220)Agc>Ggc	p.S740G		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		207	134	0	358	740					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGACGTGAGCGGCACCGG	0.602000													1	1	1	1	1	1	1.000000	224	147	0	385	0	0	0	0	0	385	5
PCDHGB1	0	broad.mit.edu	37	5	140730213	140730213	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140730213G>A	ENST00000523390.1	+	1	386	c.386G>A	c.(385-387)cGt>cAt	p.R129H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1				35	77	0	118											central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCACCACGTTTCGTTGCA	0.418000													1	1	1	1	1	1	1.000000	35	82	0	118	0	0	0	0	0	118	5
PCDHGB7	0	broad.mit.edu	37	5	140799074	140799074	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140799074G>A	ENST00000398594.2	+	1	1648	c.1648G>A	c.(1648-1650)Gtg>Atg	p.V550M	PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018927.3	NP_061750.1				23	71	0	96											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCTGCGCGTGTTGGTGGG	0.721000													1	1	1	1	1	1	1.000000	28	82	0	98	0	2.785130e-01	0	3	0	98	5
PCDH12	51294	broad.mit.edu	37	5	141334689	141334689	+	Missense_Mutation	SNP	G	G	T	rs439293		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:141334689G>T	ENST00000231484.3	-	1	3938	c.2728C>A	c.(2728-2730)Ctg>Atg	p.L910M		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	36	85	0	90	910					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCGTCTCAGGGTTGCAGAG	0.632000													1	1	1	1	1	1	1.000000	43	91	0	92	0	5.174660e-01	0	5	0	92	5
GRXCR2	643226	broad.mit.edu	37	5	145252292	145252292	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:145252292C>T	ENST00000377976.1	-	1	239	c.240G>A	c.(238-240)ctG>ctA	p.L80L		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	42	66	0	99	80										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						TCTGAGCAGTCAGCTTAGGGG	0.517000													1	1	1	1	1	1	1.000000	44	70	0	107	0	0	0	0	0	107	5
PDGFRB	5159	broad.mit.edu	37	5	149509511	149509511	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:149509511G>A	ENST00000261799.4	-	10	1857	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	56	90	0	124	463	Ig-like C2-type 5.				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			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		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)	CAGCAGCGTGGGCGGCAGCTC	0.612000			T	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP	MPD, AML, CMML, CML						OREG0016927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	64	107	0	133	0	0	0	0	0	133	5
WWC1	23286	broad.mit.edu	37	5	167882440	167882440	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:167882440C>T	ENST00000265293.4	+	19	3240	c.2738C>T	c.(2737-2739)cCg>cTg	p.P913L	WWC1_ENST00000521089.1_Missense_Mutation_p.P913L|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	129	105	0	200	913	Interaction with histone H3.				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			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	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)		GTGGGCACCCCGTCCCAGGGG	0.622000													1	1	1	1	1	1	1.000000	140	113	0	216	1	9.903736e-01	3	6	0	216	5
MSX2	4488	broad.mit.edu	37	5	174151740	174151740	+	Silent	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:174151740G>C	ENST00000239243.6	+	1	205	c.78G>C	c.(76-78)ccG>ccC	p.P26P	MSX2_ENST00000507785.1_Silent_p.P26P	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	5	20	0	20	26					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			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	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)			GACCAGGCCCGGGGCCTGGGG	0.682000													1	0	1	1	0	1	0.970955	6	22	0	24	0	0	0	1	0	24	3
CDHR2	54825	broad.mit.edu	37	5	176004718	176004718	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:176004718G>A	ENST00000510636.1	+	14	1705	c.1431G>A	c.(1429-1431)agG>agA	p.R477R	CDHR2_ENST00000506348.1_Silent_p.R477R|CDHR2_ENST00000261944.5_Silent_p.R477R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	27	59	0	68	477	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATGACCACAGGCCCACGTTTC	0.607000													1	1	1	1	1	1	1.000000	31	63	0	72	0	0	0	0	0	72	5
NSD1	64324	broad.mit.edu	37	5	176696631	176696631	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:176696631C>T	ENST00000439151.2	+	16	5377	c.5332C>T	c.(5332-5334)Cga>Tga	p.R1778*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1675*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1509*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1509*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	50	34	0	59	1778	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	p.R1778*(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	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)		CTGCCATCCTCGAGCTGTTCC	0.468000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			1	1	1	1	1	1	1.000000	53	35	0	68	0	0	0	0	0	68	5
FAM193B	54540	broad.mit.edu	37	5	176963600	176963600	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:176963600G>A	ENST00000443375.2	-	5	2054	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Missense_Mutation_p.P279S|FAM193B_ENST00000329540.5_5'UTR			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	9	12	0	14	226										kidney(1)|large_intestine(3)	4						GGGGTGGTGGGCAGCAGGTGT	0.667000													0	1	1	1	1	1	0.999791	12	13	0	15	1	9.993324e-01	4	17	0	15	4
CANX	821	broad.mit.edu	37	5	179146716	179146716	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:179146716C>A	ENST00000247461.4	+	9	1159	c.959C>A	c.(958-960)cCc>cAc	p.P320H	CANX_ENST00000452673.2_Missense_Mutation_p.P320H|CANX_ENST00000504734.1_Missense_Mutation_p.P320H|CANX_ENST00000415618.2_Missense_Mutation_p.P355H|CANX_ENST00000512607.2_Missense_Mutation_p.P212H	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	18	17	0	27	320	4 X approximate repeats.|P domain (Extended arm) (By similarity).				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			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	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)	GCCACAAAACCCGAAGGCTGG	0.423000													1	1	1	1	1	1	1.000000	21	23	0	30	1	1	112	64	0	30	5
HIST1H3C	8352	broad.mit.edu	37	6	26045754	26045754	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:26045754C>A	ENST00000540144.1	+	1	116	c.116C>A	c.(115-117)cCt>cAt	p.P39H		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	80	50	0	135	39					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GTGAAGAAACCTCATCGCTAC	0.637000													1	1	1	1	1	1	1.000000	84	53	0	140	0	0	0	0	0	140	5
RNF39	80352	broad.mit.edu	37	6	30039052	30039052	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:30039052C>T	ENST00000244360.6	-	4	1196	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	RNF39_ENST00000376751.3_Intron	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	4	15	0	20	367	B30.2/SPRY.					cytoplasm	zinc ion binding										TCCAGGTCCACGCGAATGCGC	0.751000													1	0	1	1	1	1	0.945274	5	18	0	23	0	0	0	0	0	23	4
GNL1	2794	broad.mit.edu	37	6	30521243	30521243	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:30521243G>A	ENST00000376621.3	-	6	1662	c.692C>T	c.(691-693)cCg>cTg	p.P231L		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	104	73	0	160	231					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AAGAGCTGGCGGGGCCAGATC	0.542000													1	1	1	1	1	1	1.000000	112	84	0	175	1	1	40	29	0	175	5
LTA	4049	broad.mit.edu	37	6	31541415	31541415	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:31541415T>C	ENST00000454783.1	+	4	821	c.563T>C	c.(562-564)aTc>aCc	p.I188T	LTA_ENST00000418386.2_Missense_Mutation_p.I188T	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	21	357	0	232	188					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	ACAGATGGCATCCCCCACCTA	0.522000													1	0	1	1	0	1	1.000000	25	431	0	265	0	0	0	1	0	265	3
PRRC2A	7916	broad.mit.edu	37	6	31594934	31594934	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:31594934C>T	ENST00000376033.2	+	11	1483	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R417W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	41	30	0	60	417	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCACCTCACCGGGGCCCCGC	0.652000													1	1	1	1	1	1	1.000000	46	31	0	67	1	9.468443e-01	2	4	0	67	5
TNXB	7148	broad.mit.edu	37	6	32065702	32065702	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:32065702C>T	ENST00000375244.3	-	2	475	c.274G>A	c.(274-276)Gag>Aag	p.E92K	TNXB_ENST00000375247.2_Missense_Mutation_p.E92K|TNXB_ENST00000479795.1_Missense_Mutation_p.E92K			P22105	TENX_HUMAN	tenascin XB	28	17	0	25	92					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTGGGGGCTCGGTGCCTGGG	0.607000													1	1	1	1	1	1	1.000000	33	19	0	27	0	0	0	0	0	27	5
HLA-DPA1	3113	broad.mit.edu	37	6	33037547	33037547	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:33037547C>T	ENST00000419277.1	-	3	346	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Missense_Mutation_p.V73I	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	41	28	0	73	73	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			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						AGATGCCAGACGGTCTCCTTC	0.458000													1	1	1	1	0	1	1.000000	41	46	0	76	0	9.783901e-01	0	10	0	76	4
VPS52	6293	broad.mit.edu	37	6	33231322	33231322	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:33231322C>T	ENST00000445902.2	-	17	1951	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R453Q	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	26	35	0	50	578					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATCTGCAGCCCGCTCCTAAGG	0.512000													1	1	1	1	1	1	1.000000	29	40	0	56	1	9.999999e-01	20	29	0	56	5
ITPR3	3710	broad.mit.edu	37	6	33630351	33630351	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:33630351C>T	ENST00000374316.5	+	9	1818	c.758C>T	c.(757-759)aCg>aTg	p.T253M	ITPR3_ENST00000605930.1_Missense_Mutation_p.T253M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	25	18	0	31	253	MIR 3.				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			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AAGTTCCTGACGTGTGACGAG	0.632000													1	1	1	1	1	1	1.000000	25	18	0	32	0	0	0	0	0	32	5
FANCE	2178	broad.mit.edu	37	6	35424067	35424067	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:35424067C>T	ENST00000229769.2	+	2	977	c.792C>T	c.(790-792)gaC>gaT	p.D264D		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	94	222	0	195	264	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						CTGGCGAGGACGGTTCGAATC	0.498000			N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				1	1	1	1	1	1	1.000000	102	245	0	210	0	6.524099e-01	1	6	0	210	5
PXT1	222659	broad.mit.edu	37	6	36359628	36359628	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:36359628A>G	ENST00000454782.2	-	5	807	c.324T>C	c.(322-324)gaT>gaC	p.D108D	RP1-50J22.4_ENST00000411643.1_RNA	NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	37	93	0	70	25						peroxisome											GATCTAGTGCATCTCTGCCAT	0.323000													1	1	1	1	1	1	1.000000	42	107	0	80	0	0	0	0	0	80	5
TAF8	129685	broad.mit.edu	37	6	42036324	42036324	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:42036324C>T	ENST00000372977.3	+	7	777	c.759C>T	c.(757-759)aaC>aaT	p.N253N	TAF8_ENST00000372982.4_Silent_p.N253N|TAF8_ENST00000456846.2_Silent_p.N253N|TAF8_ENST00000465926.1_Silent_p.N177N|TAF8_ENST00000494547.1_Silent_p.N253N	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	80	212	0	185	253					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			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			ACACAGAGAACCTTGCTCTTC	0.532000													1	1	1	1	1	1	1.000000	87	228	0	204	1	3.095041e-01	2	2	0	204	5
KLC4	89953	broad.mit.edu	37	6	43034148	43034148	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:43034148C>T	ENST00000394056.2	+	6	1171	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	KLC4_ENST00000479388.1_Missense_Mutation_p.R226C|KLC4_ENST00000394058.1_Missense_Mutation_p.R226C|KLC4_ENST00000458460.2_Missense_Mutation_p.R226C|KLC4_ENST00000347162.5_Missense_Mutation_p.R226C|KLC4_ENST00000453940.2_Missense_Mutation_p.R149C|KLC4_ENST00000259708.3_Missense_Mutation_p.R244C			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	43	84	0	109	226						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGCCCAAGGTCGCTATGAGGT	0.597000													1	1	1	1	1	1	1.000000	44	86	0	112	1	7.434801e-01	2	5	0	112	5
KLHL31	401265	broad.mit.edu	37	6	53517031	53517031	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:53517031C>T	ENST00000370905.3	-	3	1410	c.1270G>A	c.(1270-1272)Gcg>Acg	p.A424T	KLHL31_ENST00000407079.1_Missense_Mutation_p.A424T	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	41	109	0	132	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CGGCCGCCCGCGGCGTACACG	0.647000													1	1	1	1	1	1	1.000000	43	117	0	140	0	0	1	0	0	140	5
LRRC1	55227	broad.mit.edu	37	6	53787465	53787465	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:53787465A>G	ENST00000370888.1	+	14	1726	c.1449A>G	c.(1447-1449)ccA>ccG	p.P483P		NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	76	217	0	279	483						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTCCACACCCAGGGGAGTTAA	0.413000													1	1	1	1	1	1	1.000000	81	232	0	292	0	2.798305e-01	0	4	0	292	5
SLC17A5	26503	broad.mit.edu	37	6	74363524	74363524	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:74363524G>A	ENST00000355773.5	-	1	354	c.86C>T	c.(85-87)gCc>gTc	p.A29V	SLC17A5_ENST00000393019.3_Missense_Mutation_p.A29V	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	13	4	0	17	29					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACCGGCTTCGGCCCGTGGGGC	0.726000													1	1	1	1	0	1	0.999992	14	4	0	20	0	0	0	0	0	20	4
MYO6	4646	broad.mit.edu	37	6	76624710	76624710	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:76624710T>C	ENST00000369981.3	+	35	4121	c.3842T>C	c.(3841-3843)cTg>cCg	p.L1281P	MYO6_ENST00000369975.1_Missense_Mutation_p.L1248P|MYO6_ENST00000369985.4_Missense_Mutation_p.L1257P|MYO6_ENST00000369977.3_Missense_Mutation_p.L1280P			Q9UM54	MYO6_HUMAN	myosin VI	22	13	0	51	1289					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			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ACAGCCATGCTGCAGAGTCTG	0.512000													1	1	1	1	1	1	1.000000	25	15	0	54	1	9.999999e-01	25	4	0	54	5
DOPEY1	23033	broad.mit.edu	37	6	83806836	83806836	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:83806836T>C	ENST00000349129.2	+	3	398		c.e3+2		DOPEY1_ENST00000369739.3_Splice_Site|DOPEY1_ENST00000536812.1_Splice_Site|DOPEY1_ENST00000237163.5_Splice_Site	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	117	81	0	162						protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		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)		CTTAATAAGGTATGTCTGTAT	0.308000													1	1	1	1	1	1	1.000000	128	89	0	176	0	0	0	0	0	176	5
POU3F2	5454	broad.mit.edu	37	6	99283719	99283719	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:99283719C>T	ENST00000328345.5	+	1	1140	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	237	163	0	364	324	POU-specific.				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	p.L324L(1)		endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CATGTGCAAGCTGAAGCCTTT	0.587000													1	1	1	1	1	1	1.000000	249	169	0	375	0	0	0	0	0	375	5
SIM1	6492	broad.mit.edu	37	6	100896035	100896035	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:100896035G>A	ENST00000369208.3	-	8	1619	c.837C>T	c.(835-837)tgC>tgT	p.C279C	SIM1_ENST00000262901.4_Silent_p.C279C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	12	28	0	51	279	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		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)		AATGGTGCGCGCAGCGCAGGT	0.622000													1	1	1	1	1	1	0.999982	16	30	0	56	0	0	0	0	0	56	5
GRIK2	2898	broad.mit.edu	37	6	102372596	102372596	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:102372596T>C	ENST00000369138.1	+	12	2357		c.e12+2		GRIK2_ENST00000421544.1_Splice_Site|GRIK2_ENST00000413795.1_Splice_Site|GRIK2_ENST00000318991.6_Splice_Site|GRIK2_ENST00000369134.4_Splice_Site|GRIK2_ENST00000369137.3_Intron	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	16	45	0	46						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			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		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)	TGCAGCAAGGTATACGATTCA	0.498000													1	1	1	1	1	1	0.999986	17	52	0	51	0	0	0	0	0	51	5
AIM1	202	broad.mit.edu	37	6	107008716	107008716	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:107008716A>C	ENST00000369066.3	+	17	5157	c.4670A>C	c.(4669-4671)cAg>cCg	p.Q1557P	AIM1_ENST00000535438.1_Missense_Mutation_p.Q376P	NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	87	57	0	116	1557	Beta/gamma crystallin 'Greek key' 12.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	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)		AGAGGGCGACAGTTCCTATTG	0.403000													1	1	1	1	1	1	1.000000	92	62	0	123	1	1	29	4	0	123	5
SLC16A10	117247	broad.mit.edu	37	6	111409147	111409147	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:111409147C>T	ENST00000368851.5	+	1	367	c.192C>T	c.(190-192)ccC>ccT	p.P64P		NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	16	35	0	48	64					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		CCCCCGAACCCCCCGAGGGCG	0.731000													1	1	1	1	0	1	0.999989	17	41	0	52	0	0	0	1	0	52	4
PTPRK	5796	broad.mit.edu	37	6	128410948	128410948	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:128410948T>C	ENST00000368227.3	-	8	1718	c.1352A>G	c.(1351-1353)cAg>cGg	p.Q451R	PTPRK_ENST00000368215.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000368213.5_Missense_Mutation_p.Q451R|PTPRK_ENST00000368207.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.Q451R|PTPRK_ENST00000368226.4_Missense_Mutation_p.Q451R|PTPRK_ENST00000532331.1_Missense_Mutation_p.Q451R			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	91	48	0	142	451	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		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACAACATGCTGAGGGGCTTT	0.468000													1	1	1	1	1	1	1.000000	98	51	0	149	0	0	0	0	0	149	5
ENPP1	5167	broad.mit.edu	37	6	132171156	132171156	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:132171156G>A	ENST00000360971.2	+	3	360	c.340G>A	c.(340-342)Gag>Aag	p.E114K		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	67	53	0	128	114	SMB 1.				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	p.E62*(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TCGCTGTTTCGAGAGAACATT	0.383000													1	1	1	1	1	1	1.000000	73	57	0	139	0	0	0	0	0	139	5
HBS1L	10767	broad.mit.edu	37	6	135287507	135287507	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:135287507C>G	ENST00000367837.5	-	17	2209	c.2003G>C	c.(2002-2004)cGt>cCt	p.R668P	HBS1L_ENST00000445176.2_Missense_Mutation_p.R392P|HBS1L_ENST00000367826.2_Missense_Mutation_p.R626P|HBS1L_ENST00000415177.2_Missense_Mutation_p.R603P|HBS1L_ENST00000527578.1_Missense_Mutation_p.R504P|HBS1L_ENST00000367824.4_Missense_Mutation_p.R504P	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	45	126	0	122	668					signal transduction		GTP binding|GTPase activity|translation elongation factor activity	p.R668P(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		ACCACCGTAACGTAGCATGAA	0.378000													1	1	1	1	1	1	1.000000	51	137	0	136	1	1	56	130	0	136	5
AHI1	54806	broad.mit.edu	37	6	135811796	135811796	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:135811796T>C	ENST00000367800.4	-	3	316	c.100A>G	c.(100-102)Aag>Gag	p.K34E	AHI1_ENST00000488690.2_Missense_Mutation_p.K34E|AHI1_ENST00000327035.6_Missense_Mutation_p.K34E|AHI1_ENST00000534469.1_Missense_Mutation_p.K34E|AHI1_ENST00000367798.2_Missense_Mutation_p.K34E|AHI1_ENST00000457866.2_Missense_Mutation_p.K34E|AHI1_ENST00000528103.1_Missense_Mutation_p.K34E	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	39	96	0	130	34						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AGTTTTTTCTTCAGTTTTTTC	0.348000													1	1	1	1	1	1	1.000000	42	103	0	133	1	4.551446e-01	3	2	0	133	5
MAP3K5	4217	broad.mit.edu	37	6	136990430	136990430	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:136990430G>C	ENST00000359015.4	-	8	1717	c.1357C>G	c.(1357-1359)Cgg>Ggg	p.R453G		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	41	105	0	162	453					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			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CCAACTTTCCGGAGCTCAAAG	0.393000													1	1	1	1	1	1	1.000000	46	122	0	185	0	0	0	0	0	185	5
SHPRH	257218	broad.mit.edu	37	6	146209222	146209222	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:146209222T>C	ENST00000367503.3	-	29	5299	c.4901A>G	c.(4900-4902)cAc>cGc	p.H1634R	SHPRH_ENST00000275233.7_Missense_Mutation_p.H1630R|SHPRH_ENST00000438092.2_Missense_Mutation_p.H1634R|SHPRH_ENST00000367505.2_Missense_Mutation_p.H1630R	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	9	34	0	33	1630	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TAAGAATCTGTGTACAATAGT	0.323000													1	0	1	1	1	1	0.997974	10	35	0	33	0	1.444855e-01	1	2	0	33	4
SYNE1	23345	broad.mit.edu	37	6	152738148	152738148	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:152738148G>T	ENST00000367255.5	-	41	6025	c.5424C>A	c.(5422-5424)gaC>gaA	p.D1808E	SYNE1_ENST00000448038.1_Missense_Mutation_p.D1815E|SYNE1_ENST00000265368.4_Missense_Mutation_p.D1808E|SYNE1_ENST00000341594.5_Missense_Mutation_p.D1845E|SYNE1_ENST00000423061.1_Missense_Mutation_p.D1815E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	95	66	0	152	1808					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			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCTGCGTGGTCCTGGAAGG	0.483000										HNSCC(10;0.0054)			1	1	1	1	1	1	1.000000	108	71	0	155	0	0	0	0	0	155	5
MYCT1	80177	broad.mit.edu	37	6	153043291	153043291	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:153043291G>A	ENST00000367245.5	+	2	619	c.611G>A	c.(610-612)cGt>cAt	p.R204H	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	57	88	1	138	204						nucleus		p.R204H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGTCTGAGCCGTCCTGACTAC	0.532000													1	0	1	1	1	1	1.000000	66	99	1	144	0	0	0	1	1	144	4
IGF2R	3482	broad.mit.edu	37	6	160526039	160526039	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:160526039G>A	ENST00000356956.1	+	48	7547	c.7399G>A	c.(7399-7401)Gca>Aca	p.A2467T	IGF2R_ENST00000475584.1_Intron	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	17	40	0	59	2467					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			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GTCCAGCTCTGCACAGCAGAA	0.597000													1	1	1	1	1	1	0.999995	18	41	0	64	1	9.837664e-01	4	15	0	64	5
PSMB1	5689	broad.mit.edu	37	6	170844432	170844432	+	Missense_Mutation	SNP	C	C	T	rs150833808		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:170844432C>T	ENST00000262193.6	-	6	700	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	67	49	0	89	201					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			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		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)	TTTCACCAGCCGCATGGCTCT	0.512000													1	1	1	1	1	1	1.000000	74	54	0	95	1	1	859	533	0	95	5
TTYH3	80727	broad.mit.edu	37	7	2687615	2687615	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:2687615C>T	ENST00000258796.7	+	5	854	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	TTYH3_ENST00000407643.1_Intron|TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000403167.1_Silent_p.L46L	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	7	91	0	83	217						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CCTGGGCCTGCTGCTGCTGGA	0.706000													1	1	1	1	0	1	0.990167	8	111	0	90	1	1.696309e-01	2	6	0	90	4
FSCN1	6624	broad.mit.edu	37	7	5645075	5645075	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:5645075C>T	ENST00000382361.3	+	5	1566	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	FSCN1_ENST00000340250.6_Silent_p.T463T	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	5	3	0	17	484					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CGGCGGAAACCGTGGACCCCG	0.662000													1	0	1	1	0	1	0.985116	6	3	0	18	1	1	91	111	0	18	3
DGKB	1607	broad.mit.edu	37	7	14217687	14217687	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:14217687G>A	ENST00000403951.2	-	24	2634	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W	DGKB_ENST00000406247.3_Missense_Mutation_p.R739W|DGKB_ENST00000399322.3_Missense_Mutation_p.R739W|DGKB_ENST00000402815.1_Missense_Mutation_p.R738W|DGKB_ENST00000444700.2_Missense_Mutation_p.R720W|DGKB_ENST00000258767.5_Missense_Mutation_p.R739W|DGKB_ENST00000407950.1_Missense_Mutation_p.R731W			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	39	61	0	132	739					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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGAGCCAGCCGCCGGCCAGCA	0.507000													1	1	1	1	1	1	1.000000	39	64	0	136	0	0	0	0	0	136	5
NFE2L3	9603	broad.mit.edu	37	7	26192151	26192151	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:26192151C>T	ENST00000056233.3	+	1	292	c.33C>T	c.(31-33)ggC>ggT	p.G11G		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	13	17	0	25	11					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GGTCGGCCGGCGGCGGCCTCC	0.756000													1	1	1	1	0	1	0.999988	16	21	0	28	0	0	0	0	0	28	4
PLEKHA8	84725	broad.mit.edu	37	7	30085829	30085829	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:30085829A>G	ENST00000449726.1	+	3	511	c.161A>G	c.(160-162)cAt>cGt	p.H54R	PLEKHA8_ENST00000396259.1_Missense_Mutation_p.H54R|PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.H54R|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.H54R	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	49	80	0	137	54	PH.				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CTCCCAGTTCATTCTGTAGAT	0.512000													1	1	1	1	1	1	1.000000	55	91	0	159	0	0	0	0	0	159	5
C7orf25	79020	broad.mit.edu	37	7	42949408	42949408	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:42949408C>T	ENST00000350427.4	-	2	1367	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	C7orf25_ENST00000447342.1_Silent_p.T364T|C7orf25_ENST00000431882.2_Silent_p.T422T|C7orf25_ENST00000438029.1_Silent_p.T364T|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	41	37	0	82	364										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GGGTGTCTCCCGTCCCAAAAA	0.433000													1	1	1	1	0	1	1.000000	47	41	0	89	1	1	18	21	0	89	4
DBNL	28988	broad.mit.edu	37	7	44098476	44098476	+	Splice_Site	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:44098476G>T	ENST00000468694.1	+	9	783		c.e9-1		DBNL_ENST00000456905.1_Intron|DBNL_ENST00000452943.1_Intron|DBNL_ENST00000490734.2_Intron|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000448521.1_Intron|DBNL_ENST00000497184.1_Intron|DBNL_ENST00000494774.1_Intron	NM_001122956.1	NP_001116428.1	Q9UJU6	DBNL_HUMAN	drebrin-like	22	20	0	51						activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GCCCACTGCAGGGGTCAACAT	0.602000													1	0	1	1	1	1	1.000000	22	21	0	56	1	1	2	72	0	56	4
AEBP1	165	broad.mit.edu	37	7	44146234	44146234	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:44146234A>G	ENST00000223357.3	+	2	648	c.343A>G	c.(343-345)Agg>Ggg	p.R115G		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	15	5	0	38	115	Pro-rich.				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			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GGGGTCCCCCAGGCCGCCCAA	0.577000													1	1	1	1	1	1	1.000000	17	5	0	43	1	9.999481e-01	7	6	0	43	5
IGFBP1	3484	broad.mit.edu	37	7	45930298	45930298	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:45930298C>A	ENST00000275525.3	+	2	797	c.501C>A	c.(499-501)acC>acA	p.T167T	IGFBP1_ENST00000457280.1_Silent_p.T167T|IGFBP1_ENST00000468955.1_Silent_p.T167T	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	38	64	0	138	167						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						TCCATGTCACCAACATCAAAA	0.527000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	39	73	0	153	0	0	0	0	0	153	5
COBL	23242	broad.mit.edu	37	7	51258732	51258732	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:51258732G>T	ENST00000395542.2	-	4	684	c.500C>A	c.(499-501)gCt>gAt	p.A167D	COBL_ENST00000265136.7_Missense_Mutation_p.A167D|COBL_ENST00000441453.1_Missense_Mutation_p.A167D|COBL_ENST00000395540.2_Missense_Mutation_p.A167D			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	8	30	0	69	167										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					ACGCACAACAGCTTTTTGTGT	0.488000													1	1	1	1	1	1	0.997951	10	36	0	76	0	0	0	0	0	76	5
HIP1	3092	broad.mit.edu	37	7	75182877	75182877	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:75182877C>T	ENST00000336926.6	-	22	2196	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T	HIP1_ENST00000434438.2_Missense_Mutation_p.A724T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	23	38	0	62	724					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			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCTTACAGGCCTCGGTCAGT	0.562000			T	PDGFRB	CMML								1	1	1	1	0	1	1.000000	24	41	0	63	0	0	1	0	0	63	4
CD36	948	broad.mit.edu	37	7	80276069	80276069	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:80276069C>T	ENST00000435819.1	+	6	697	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	CD36_ENST00000309881.7_Missense_Mutation_p.R5W|CD36_ENST00000534394.1_Intron|CD36_ENST00000447544.2_Missense_Mutation_p.R5W|CD36_ENST00000394788.3_Missense_Mutation_p.R5W|CD36_ENST00000441109.2_3'UTR|CD36_ENST00000538969.1_Missense_Mutation_p.R5W|CD36_ENST00000544133.1_Missense_Mutation_p.R5W|CD36_ENST00000433696.2_Missense_Mutation_p.R5W|CD36_ENST00000432207.1_Missense_Mutation_p.R5W			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	50	53	0	133	5					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			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GGGCTGTGACCGGAACTGTGG	0.468000													1	1	1	1	1	1	1.000000	52	67	0	151	0	0	0	1	0	151	5
CROT	54677	broad.mit.edu	37	7	86990793	86990793	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:86990793T>C	ENST00000331536.3	+	5	513	c.328T>C	c.(328-330)Ttt>Ctt	p.F110L	CROT_ENST00000442291.1_Missense_Mutation_p.F110L|CROT_ENST00000419147.2_Missense_Mutation_p.F138L	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	43	67	0	109	110					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TGCAGCTCATTTTGAACACTA	0.418000													1	1	1	1	1	1	1.000000	47	71	0	114	0	0	0	0	0	114	5
CALCR	799	broad.mit.edu	37	7	93106930	93106930	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:93106930G>A	ENST00000359558.2	-	6	609	c.310C>T	c.(310-312)Ccg>Tcg	p.P104S	CALCR_ENST00000394441.1_Missense_Mutation_p.P86S|CALCR_ENST00000360249.4_Missense_Mutation_p.P86S|CALCR_ENST00000426151.1_Missense_Mutation_p.P86S|CALCR_ENST00000421592.1_Missense_Mutation_p.P86S	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	25	32	0	70	86					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 receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	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)	ACTCCAGCCGGTGTGTCATCC	0.418000													1	1	1	1	1	1	1.000000	28	34	0	82	0	0	0	0	0	82	5
TECPR1	25851	broad.mit.edu	37	7	97846804	97846804	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:97846804G>A	ENST00000447648.2	-	26	3695	c.3396C>T	c.(3394-3396)gaC>gaT	p.D1132D	TECPR1_ENST00000379795.3_Silent_p.D1134D			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	11	11	0	23	1132						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGAGATATGGTCCCAGCCTC	0.682000													1	1	1	1	1	1	0.999809	12	12	0	24	1	8.655296e-01	3	3	0	24	5
ZCWPW1	55063	broad.mit.edu	37	7	99998670	99998670	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:99998670G>A	ENST00000398027.2	-	18	2161	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G	ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Silent_p.G467G|ZCWPW1_ENST00000490721.1_Silent_p.G467G	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	15	31	0	56	638							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGAAGTCCTCGCCATCACTGT	0.597000													1	1	1	1	1	1	0.999996	18	34	0	61	0	5.682689e-01	0	5	0	61	5
GIGYF1	64599	broad.mit.edu	37	7	100283633	100283633	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:100283633G>A	ENST00000275732.5	-	9	2227	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	33	42	0	64	340										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCTTCGGAAGGTTCCTCCTCC	0.682000													1	1	1	1	1	1	1.000000	41	54	0	73	1	8.718574e-01	4	3	0	73	5
NAT16	375607	broad.mit.edu	37	7	100816662	100816662	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:100816662T>C	ENST00000300303.2	-	3	690	c.452A>G	c.(451-453)cAc>cGc	p.H151R	NAT16_ENST00000455377.1_Missense_Mutation_p.H151R	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	19	27	0	53	151	N-acetyltransferase.						N-acetyltransferase activity										GACCCCCGGGTGCTGTCTCTT	0.692000													1	1	1	1	1	1	1.000000	21	29	0	57	0	0	0	0	0	57	5
PIK3CG	5294	broad.mit.edu	37	7	106508511	106508511	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:106508511C>T	ENST00000359195.3	+	2	815	c.505C>T	c.(505-507)Cac>Tac	p.H169Y	PIK3CG_ENST00000496166.1_Missense_Mutation_p.H169Y|PIK3CG_ENST00000440650.2_Missense_Mutation_p.H169Y	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	30	18	0	58	169					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			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAGCAACGTGCACGACGATGA	0.677000													1	1	1	1	1	1	1.000000	30	21	0	63	0	0	0	0	0	63	5
HBP1	26959	broad.mit.edu	37	7	106826902	106826902	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:106826902C>T	ENST00000222574.4	+	5	823	c.637C>T	c.(637-639)Cac>Tac	p.H213Y	HBP1_ENST00000468410.1_Missense_Mutation_p.H213Y|HBP1_ENST00000485846.1_Missense_Mutation_p.H213Y	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	53	84	0	116	213	AXH.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						AACTGTCTGGCACTGTTTTTT	0.398000													1	1	1	1	1	1	1.000000	55	97	0	124	1	8.881127e-01	5	4	0	124	5
DOCK4	9732	broad.mit.edu	37	7	111423966	111423966	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:111423966G>A	ENST00000428084.1	-	34	3743	c.3471C>T	c.(3469-3471)ggC>ggT	p.G1157G	DOCK4_ENST00000437633.1_Silent_p.G1148G|DOCK4_ENST00000494651.2_Silent_p.G31G			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	6	7	0	11	1148	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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTAATGAAACGCCACTTTCCC	0.408000													0	1	1	1	1	1	0.990505	7	7	0	13	0	0	0	0	0	13	4
KCND2	3751	broad.mit.edu	37	7	120386010	120386010	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:120386010C>T	ENST00000331113.4	+	5	2609	c.1644C>T	c.(1642-1644)agC>agT	p.S548S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	23	52	0	79	548					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TATCAGGAAGCCATCAAGGTA	0.443000													1	1	1	1	1	1	1.000000	25	56	0	87	0	0	0	0	0	87	5
ZNF800	168850	broad.mit.edu	37	7	127014143	127014143	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:127014143A>G	ENST00000393313.1	-	5	1838	c.1247T>C	c.(1246-1248)gTa>gCa	p.V416A	ZNF800_ENST00000393312.1_Missense_Mutation_p.V416A|ZNF800_ENST00000265827.3_Missense_Mutation_p.V416A			Q2TB10	ZN800_HUMAN	zinc finger protein 800	28	41	0	102	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TGAAGATTCTACAGAATCTGC	0.358000													1	1	1	1	1	1	1.000000	31	51	0	108	1	1.478992e-01	2	0	0	108	5
IMPDH1	3614	broad.mit.edu	37	7	128037026	128037026	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:128037026G>A	ENST00000338791.6	-	11	1475	c.1125C>T	c.(1123-1125)atC>atT	p.I375I	IMPDH1_ENST00000480861.1_Silent_p.I285I|IMPDH1_ENST00000419067.2_Silent_p.I342I|IMPDH1_ENST00000354269.5_Silent_p.I365I|IMPDH1_ENST00000470772.1_Silent_p.I289I|IMPDH1_ENST00000348127.6_Silent_p.I339I|IMPDH1_ENST00000496200.1_Silent_p.I265I|IMPDH1_ENST00000378717.4_Silent_p.I306I|IMPDH1_ENST00000343214.4_Silent_p.I265I	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	35	57	0	111	290					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ACTTCTGTTTGATGTAATGCA	0.562000													1	1	1	1	1	1	1.000000	40	69	0	121	1	8.919508e-01	3	6	0	121	5
AKR1B15	441282	broad.mit.edu	37	7	134252969	134252969	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:134252969C>T	ENST00000457545.2	+	4	470	c.210C>T	c.(208-210)caC>caT	p.H70H	AKR1B15_ENST00000423958.1_Silent_p.H42H	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	40	52	0	142	70							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AATATCGCCACATTGACTGTG	0.453000													1	1	1	1	1	1	1.000000	43	56	0	146	0	0	0	0	0	146	5
DGKI	9162	broad.mit.edu	37	7	137339501	137339501	+	Translation_Start_Site	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:137339501C>A	ENST00000453654.1	-	0	354				DGKI_ENST00000424189.2_Nonsense_Mutation_p.G239*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.G239*|DGKI_ENST00000288490.5_Nonsense_Mutation_p.G239*			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	21	36	0	35						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			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTTGAGCCTCCTTCTCGAAAT	0.338000													1	1	1	1	1	1	1.000000	27	44	0	37	0	1.503147e-01	1	1	0	37	5
KIAA1549	57670	broad.mit.edu	37	7	138522791	138522791	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:138522791C>T	ENST00000440172.1	-	20	5713	c.5665G>A	c.(5665-5667)Ggc>Agc	p.G1889S	KIAA1549_ENST00000422774.1_Missense_Mutation_p.G1905S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.G1839S|TMEM213_ENST00000413208.1_3'UTR	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	13	11	0	20	1905						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGCCCAGGGCCCTGCAGTCCC	0.622000			O	BRAF	pilocytic astrocytoma								1	1	1	1	1	1	0.999930	13	11	0	21	1	9.960433e-01	5	8	0	21	5
OR6V1	346517	broad.mit.edu	37	7	142749858	142749858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:142749858C>T	ENST00000418316.1	+	1	442	c.421C>T	c.(421-423)Cag>Tag	p.Q141*		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	6	90	0	120	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TATGTGTGTCCAGCTGGCTGG	0.587000													1	1	1	1	0	1	0.966539	6	92	0	122	0	0	0	0	0	122	4
ZYX	7791	broad.mit.edu	37	7	143087016	143087016	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:143087016T>C	ENST00000322764.5	+	9	1905	c.1560T>C	c.(1558-1560)acT>acC	p.T520T	ZYX_ENST00000392910.2_Silent_p.T363T|ZYX_ENST00000449423.2_Silent_p.T433T	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	37	42	0	124	520	LIM zinc-binding 3.				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			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GAGATGAGACTGTGCGAGTGG	0.602000													1	1	1	1	1	1	1.000000	41	45	0	131	1	1	107	179	0	131	5
OR2A14	135941	broad.mit.edu	37	7	143826815	143826815	+	Missense_Mutation	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:143826815T>A	ENST00000408899.2	+	1	665	c.610T>A	c.(610-612)Ttc>Atc	p.F204I		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	121	139	0	371	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AGCCTGCGTGTTCATCCTGGT	0.567000													1	1	1	1	1	1	1.000000	133	151	0	387	0	0	0	0	0	387	5
CNTNAP2	26047	broad.mit.edu	37	7	147914501	147914501	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:147914501G>A	ENST00000361727.3	+	19	3648	c.3132G>A	c.(3130-3132)ccG>ccA	p.P1044P	CNTNAP2_ENST00000538075.1_Silent_p.P103P	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	51	66	0	188	1044					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	p.P1044P(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	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)			ACTCCCACCCGGACCTGGCAC	0.562000										HNSCC(39;0.1)			1	1	1	1	1	1	1.000000	57	79	0	207	0	0	0	0	0	207	5
TMEM176B	28959	broad.mit.edu	37	7	150490215	150490215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:150490215C>T	ENST00000447204.2	-	5	933	c.561G>A	c.(559-561)tgG>tgA	p.W187*	TMEM176B_ENST00000429904.2_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000450753.2_Nonsense_Mutation_p.W150*|TMEM176B_ENST00000492607.1_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000326442.5_Nonsense_Mutation_p.W187*|TMEM176B_ENST00000434545.1_Nonsense_Mutation_p.W187*	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	27	58	0	92	187					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCTTCTGCCATTGGTTCT	0.527000													1	1	1	1	1	1	1.000000	30	66	0	99	0	6.953043e-01	1	6	0	99	5
NUB1	51667	broad.mit.edu	37	7	151046250	151046250	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:151046250G>A	ENST00000568733.1	+	3	347	c.281G>A	c.(280-282)cGt>cAt	p.R94H	NUB1_ENST00000413040.2_Missense_Mutation_p.R94H|NUB1_ENST00000566856.1_Missense_Mutation_p.R70H|NUB1_ENST00000355851.4_Missense_Mutation_p.R70H			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	38	56	0	91	70					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			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCAATTGAGCGTGGAACAGGA	0.373000													1	1	1	1	1	1	1.000000	40	61	0	97	1	9.192855e-01	3	6	0	97	5
KMT2C	58508	broad.mit.edu	37	7	152055715	152055715	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:152055715C>T	ENST00000355193.2	-	2	425	c.207G>A	c.(205-207)atG>atA	p.M69I	KMT2C_ENST00000262189.6_Missense_Mutation_p.M69I					lysine (K)-specific methyltransferase 2C	65	105	0	152																		CCAGCCCATCCATGCTGTCCT	0.348000													1	1	1	1	1	1	1.000000	83	122	0	190	0	0	0	0	0	190	5
ERICH1	157697	broad.mit.edu	37	8	623411	623411	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:623411C>T	ENST00000262109.7	-	4	1018	c.941G>A	c.(940-942)gGt>gAt	p.G314D	ERICH1_ENST00000522706.1_Missense_Mutation_p.G220D	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	62	229	0	233	314	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		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)		GGAGTCTGCACCCTCTTCCTC	0.567000													1	1	1	1	1	1	1.000000	70	253	0	238	1	9.987419e-01	13	26	0	238	5
DLGAP2	9228	broad.mit.edu	37	8	1581004	1581004	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:1581004G>A	ENST00000421627.2	+	5	1496	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	27	23	0	29	533					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.A476A(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		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)		TGAGCGAGGCGGAGATCAATG	0.572000													1	1	1	1	1	1	1.000000	30	26	0	35	0	0	0	0	0	35	5
MTUS1	57509	broad.mit.edu	37	8	17611442	17611442	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:17611442G>A	ENST00000381869.3	-	2	2348	c.1875C>T	c.(1873-1875)tgC>tgT	p.C625C	MTUS1_ENST00000381862.3_Silent_p.C625C|MTUS1_ENST00000262102.6_Silent_p.C625C|MTUS1_ENST00000519263.1_Silent_p.C625C	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	79	219	0	190	625						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		ACCCGGTCTCGCATGCTGAGT	0.433000													1	1	1	1	1	1	1.000000	89	233	0	201	0	0	0	0	0	201	5
BMP1	649	broad.mit.edu	37	8	22034617	22034617	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:22034617G>A	ENST00000306385.5	+	5	1365	c.695G>A	c.(694-696)cGc>cAc	p.R232H	BMP1_ENST00000354870.5_Missense_Mutation_p.R232H|BMP1_ENST00000306349.8_Missense_Mutation_p.R232H|BMP1_ENST00000397816.3_Missense_Mutation_p.R232H|BMP1_ENST00000397814.3_Missense_Mutation_p.R232H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	7	28	0	29	232	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			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GACCGGGACCGCCACGTTTCC	0.647000													1	1	1	1	0	1	0.991760	8	34	0	33	0	6.485481e-01	0	11	0	33	4
BMP1	649	broad.mit.edu	37	8	22035142	22035142	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:22035142T>C	ENST00000354870.5	+	6	1059	c.793T>C	c.(793-795)Tgt>Cgt	p.C265R	BMP1_ENST00000306349.8_Intron|BMP1_ENST00000306385.5_Intron|BMP1_ENST00000397816.3_Intron|BMP1_ENST00000397814.3_Intron			P13497	BMP1_HUMAN	bone morphogenetic protein 1	138	326	0	198	0	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			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TTCCTTCCCATGTTCCCTTGA	0.612000													1	1	1	1	1	1	1.000000	153	373	0	210	0	0	0	0	0	210	5
EBF2	64641	broad.mit.edu	37	8	25715915	25715915	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:25715915C>T	ENST00000520164.1	-	14	1985	c.1448G>A	c.(1447-1449)aGc>aAc	p.S483N	EBF2_ENST00000408929.3_Missense_Mutation_p.S335N|EBF2_ENST00000535548.1_Missense_Mutation_p.S214N	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	38	120	0	108	483	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		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)		GGGGACATTGCTGTAGCCATT	0.517000													1	1	1	1	1	1	1.000000	43	131	0	115	0	0	0	0	0	115	5
PNMA2	10687	broad.mit.edu	37	8	26365217	26365217	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:26365217C>T	ENST00000522362.2	-	3	1949	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	55	212	0	145	352					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		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)		ATAGCCATCTCGTTCCTCTGG	0.522000													1	1	1	1	1	1	1.000000	65	248	0	168	0	4.482310e-01	1	6	0	168	5
FBXO16	157574	broad.mit.edu	37	8	28314409	28314409	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:28314409C>T	ENST00000380254.2	-	5	529	c.381G>A	c.(379-381)caG>caA	p.Q127Q	FBXO16_ENST00000517436.1_5'UTR|FBXO16_ENST00000518734.1_Silent_p.Q115Q|FBXO16_ENST00000346498.2_Silent_p.Q115Q	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	89	27	0	71	127	F-box.									large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GCATCCAGAGCTGGTCCAGCT	0.423000													1	1	1	1	1	1	1.000000	91	31	0	76	1	9.992932e-01	8	0	0	76	5
FZD3	7976	broad.mit.edu	37	8	28384902	28384902	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:28384902A>G	ENST00000240093.3	+	5	1103	c.625A>G	c.(625-627)Att>Gtt	p.I209V	FZD3_ENST00000537916.1_Missense_Mutation_p.I209V	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	34	155	0	86	209					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			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CATAGGATTGATTTCAATCAT	0.363000													1	1	1	1	1	1	1.000000	36	167	0	92	1	9.955782e-01	9	33	0	92	5
GSR	2936	broad.mit.edu	37	8	30560725	30560725	+	Silent	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:30560725G>T	ENST00000221130.5	-	5	615	c.525C>A	c.(523-525)gcC>gcA	p.A175A	GSR_ENST00000546342.1_Silent_p.A175A|GSR_ENST00000541648.1_Silent_p.A175A|GSR_ENST00000537535.1_Silent_p.A175A|GSR_ENST00000414019.1_Silent_p.A132A	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	13	198	0	119	175					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	CACTCGTGAAGGCTGCATGGC	0.483000													1	1	1	1	0	1	0.999781	14	222	0	131	0	3.654314e-02	1	4	0	131	4
GPR124	25960	broad.mit.edu	37	8	37693106	37693106	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:37693106C>T	ENST00000412232.2	+	13	1881	c.1868C>T	c.(1867-1869)cCg>cTg	p.P623L	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	82	298	0	199	623					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			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CAGCTGCCCCCGAGTCTATTC	0.647000													1	1	1	1	1	1	1.000000	94	352	0	220	0	9.408771e-01	0	19	0	220	5
HTRA4	203100	broad.mit.edu	37	8	38835513	38835513	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:38835513T>C	ENST00000302495.4	+	4	913	c.813T>C	c.(811-813)ctT>ctC	p.L271L		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	52	168	0	106	271	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CATCTGACCTTCGGGCTGGAG	0.517000													1	1	1	1	1	1	1.000000	61	194	0	116	0	0	0	0	0	116	5
SLC20A2	6575	broad.mit.edu	37	8	42275398	42275398	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:42275398C>T	ENST00000342228.3	-	11	2251	c.1882G>A	c.(1882-1884)Gtg>Atg	p.V628M	SLC20A2_ENST00000520262.1_Missense_Mutation_p.V628M|SLC20A2_ENST00000520179.1_Missense_Mutation_p.V628M	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	79	64	0	91	628					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGGACGGTCACGAACCAGGCC	0.592000													1	1	1	1	1	1	1.000000	88	70	0	100	1	9.999932e-01	17	3	0	100	5
PRKDC	5591	broad.mit.edu	37	8	48801143	48801143	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:48801143G>A	ENST00000314191.2	-	35	4402	c.4346C>T	c.(4345-4347)gCt>gTt	p.A1449V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A1449V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	7	15	0	18	1450					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			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGACACAACAGCAGCCAGCCT	0.448000								Non-homologous end-joining					1	1	1	1	1	1	0.986371	7	17	0	19	0	0	0	0	0	19	5
PXDNL	137902	broad.mit.edu	37	8	52336136	52336136	+	Splice_Site	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:52336136C>A	ENST00000356297.4	-	14	1894	c.1795_splice	c.e14+1	p.T598_splice	PXDNL_ENST00000543296.1_Splice_Site_p.T598_splice	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	19	45	0	31	598					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GACACCTACCCGTGACTGTAA	0.438000													1	1	1	1	1	1	0.999997	19	51	0	33	0	0	0	0	0	33	5
RB1CC1	9821	broad.mit.edu	37	8	53586500	53586500	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:53586500A>G	ENST00000025008.5	-	7	1430	c.907T>C	c.(907-909)Ttt>Ctt	p.F303L	RB1CC1_ENST00000435644.2_Missense_Mutation_p.F303L|RB1CC1_ENST00000539297.1_Missense_Mutation_p.F303L|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	121	49	0	104	303					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACATTAAAAAAGGGCAGATCA	0.388000													1	1	1	1	1	1	1.000000	124	51	0	108	0	4.999048e-01	1	1	0	108	5
OPRK1	4986	broad.mit.edu	37	8	54163550	54163550	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:54163550G>A	ENST00000265572.3	-	2	345	c.48C>T	c.(46-48)tgC>tgT	p.C16C	OPRK1_ENST00000520287.1_Silent_p.C16C	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	17	33	0	22	16					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			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		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)	CGCTCGGGGCGCAGGTAGGGC	0.741000													1	1	1	1	0	1	0.999991	17	35	0	24	0	0	0	0	0	24	4
LYN	4067	broad.mit.edu	37	8	56863330	56863330	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:56863330T>C	ENST00000520220.2	+	6	685	c.411T>C	c.(409-411)agT>agC	p.S137S	LYN_ENST00000519728.1_Silent_p.S158S	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	25	122	0	80	158	SH2.				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			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TTAGAGAAAGTGAAACATTAA	0.373000													1	1	1	1	1	1	1.000000	28	130	0	87	0	2.264874e-01	1	4	0	87	5
PREX2	80243	broad.mit.edu	37	8	69009342	69009342	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:69009342G>A	ENST00000288368.4	+	22	2736	c.2459G>A	c.(2458-2460)gGt>gAt	p.G820D	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	121	44	0	115	820					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.G820A(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTGGAATATGGTGTCGTGTAT	0.453000													1	1	1	1	1	1	1.000000	127	51	0	125	1	5.068140e-01	2	0	0	125	5
ZNF704	619279	broad.mit.edu	37	8	81553673	81553673	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:81553673G>A	ENST00000327835.3	-	9	1398	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	12	64	0	52	389						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	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)			TCTCCATCCCGTACACCTTCC	0.572000													1	1	1	1	1	1	0.999840	14	74	0	61	0	0	0	1	0	61	5
ATP6V0D2	245972	broad.mit.edu	37	8	87165043	87165043	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:87165043A>G	ENST00000285393.3	+	8	1033		c.e8-1		CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	106	68	0	74						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TTCTTTCCTCAGGTACAAATG	0.358000													1	1	1	1	1	1	1.000000	123	78	0	79	0	0	0	0	0	79	5
DCAF4L2	138009	broad.mit.edu	37	8	88885771	88885771	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:88885771C>T	ENST00000319675.3	-	1	525	c.429G>A	c.(427-429)ctG>ctA	p.L143L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	110	55	0	163	143								p.L143L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CGAAGCACAGCAGAAGGTGGG	0.562000													1	1	1	1	1	1	1.000000	122	57	0	176	0	0	0	0	0	176	5
GEM	2669	broad.mit.edu	37	8	95264399	95264399	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:95264399A>G	ENST00000297596.2	-	4	725	c.461T>C	c.(460-462)cTg>cCg	p.L154P	GEM_ENST00000396194.2_Missense_Mutation_p.L154P	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	25	137	0	88	154					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTAGACAATCAGGTATGCGTC	0.517000													1	1	1	1	1	1	1.000000	27	156	0	96	0	5.987259e-01	1	12	0	96	5
RIMS2	9699	broad.mit.edu	37	8	104898136	104898136	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:104898136A>G	ENST00000507740.1	+	2	969	c.733A>G	c.(733-735)Agg>Ggg	p.R245G	RIMS2_ENST00000436393.2_Missense_Mutation_p.R215G|RIMS2_ENST00000406091.3_Missense_Mutation_p.R437G|RIMS2_ENST00000262231.10_Missense_Mutation_p.R245G	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	12	110	0	129	468					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCCTACCCCCAGGAGGAGTCC	0.468000										HNSCC(12;0.0054)			1	1	1	1	1	1	0.999904	15	120	0	141	0	0	0	0	0	141	5
DSCC1	79075	broad.mit.edu	37	8	120850597	120850597	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:120850597C>T	ENST00000313655.4	-	8	1189	c.975G>A	c.(973-975)ctG>ctA	p.L325L		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	45	150	0	114	325					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATCTACTTTCAGCAAAAATA	0.368000													1	1	1	1	1	1	1.000000	53	170	0	127	1	9.996668e-01	14	28	0	127	5
ZHX1	11244	broad.mit.edu	37	8	124266662	124266662	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:124266662T>A	ENST00000395571.3	-	3	2142	c.1525A>T	c.(1525-1527)Aaa>Taa	p.K509*	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Nonsense_Mutation_p.K509*|ZHX1_ENST00000522655.1_Nonsense_Mutation_p.K509*	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	80	215	0	119	509	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			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AACCATTTTTTAATCTCTCCT	0.348000													1	1	1	1	1	1	1.000000	85	226	0	121	1	9.254654e-01	3	11	0	121	5
ATAD2	29028	broad.mit.edu	37	8	124382144	124382144	+	Missense_Mutation	SNP	T	T	C	rs150184958		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:124382144T>C	ENST00000287394.5	-	7	955	c.848A>G	c.(847-849)gAa>gGa	p.E283G	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	26	17	0	31	283	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			tccatcttcttcatcttcatc	0.368000													1	1	1	1	1	1	1.000000	36	17	0	32	0	0	0	1	0	32	5
ATAD2	29028	broad.mit.edu	37	8	124382152	124382152	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:124382152A>T	ENST00000287394.5	-	7	947	c.840T>A	c.(838-840)gaT>gaA	p.D280E	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	23	15	0	32	280	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			cttcatcttcatcatcttcat	0.378000													1	1	0	1	1	1	1.000000	33	15	0	32	0	8.920174e-01	0	4	0	32	4
FER1L6	654463	broad.mit.edu	37	8	125072512	125072512	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:125072512T>C	ENST00000522917.1	+	23	3172	c.2966T>C	c.(2965-2967)cTg>cCg	p.L989P	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.L989P	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	118	54	0	162	989						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CGGCCGGTGCTGAGCAAATAC	0.587000													1	1	1	1	1	1	1.000000	128	61	0	175	0	0	0	0	0	175	5
MYC	4609	broad.mit.edu	37	8	128750639	128750639	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:128750639C>T	ENST00000377970.2	+	2	686	c.176C>T	c.(175-177)gCg>gTg	p.A59V	MYC_ENST00000259523.6_Missense_Mutation_p.A44V|MYC_ENST00000524013.1_Missense_Mutation_p.A58V	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	88	35	0	102	44			P -> A (in a Burkitt lymphoma sample).		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			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	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)		CAGCCCCCGGCGCCCAGCGAG	0.637000	A59V(RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A59V(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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	1	1	1	1	1	1.000000	97	41	0	102	1	1	64	20	0	102	5
TG	7038	broad.mit.edu	37	8	133910007	133910007	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:133910007C>T	ENST00000220616.4	+	12	3155	c.3115C>T	c.(3115-3117)Cct>Tct	p.P1039S	TG_ENST00000377869.1_Missense_Mutation_p.P1039S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	36	111	0	103	1039	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	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)		AAGTTGGGAGCCTGTGCAGTG	0.597000													1	1	1	1	1	1	1.000000	38	124	0	118	0	0	0	0	0	118	5
TG	7038	broad.mit.edu	37	8	133923762	133923762	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:133923762T>C	ENST00000220616.4	+	19	4183	c.4143T>C	c.(4141-4143)ccT>ccC	p.P1381P	TG_ENST00000377869.1_Silent_p.P1381P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	57	148	0	125	1381					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	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)		CTTCTCTTCCTGACTTACATG	0.473000													1	1	1	1	1	1	1.000000	61	160	0	130	0	0	0	0	0	130	5
FAM135B	51059	broad.mit.edu	37	8	139189663	139189663	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:139189663C>T	ENST00000395297.1	-	11	1200	c.1029_splice	c.e11-1	p.V344_splice		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	13	26	0	15	344										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	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)			AACCTTCGGACCTGCAGAATA	0.373000										HNSCC(54;0.14)			1	1	1	1	1	1	0.999913	14	29	0	17	0	0	0	0	0	17	5
MROH6	642475	broad.mit.edu	37	8	144649983	144649983	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144649983G>A	ENST00000398882.3	-	12	2096	c.1840C>T	c.(1840-1842)Ctg>Ttg	p.L614L	MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000524906.1_5'UTR|MROH6_ENST00000532704.1_5'UTR	NM_001100878.1	NP_001094348.1			maestro heat-like repeat family member 6	14	45	0	29																		GCCCGGCGCAGGGGGTCCTGT	0.701000													1	1	1	1	1	1	0.999970	16	52	0	32	0	2.527907e-01	0	4	0	32	5
MAPK15	225689	broad.mit.edu	37	8	144800992	144800992	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144800992G>A	ENST00000338033.4	+	5	453	c.334G>A	c.(334-336)Gtc>Atc	p.V112I	RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000395107.4_Missense_Mutation_p.V129I|MAPK15_ENST00000395108.2_Missense_Mutation_p.V112I	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	14	33	0	26	112	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	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)			GCTGCAGGACGTCCACGTGCG	0.692000													1	1	1	1	0	1	0.999989	17	40	0	30	1	9.991297e-01	10	23	0	30	4
EPPK1	83481	broad.mit.edu	37	8	144945055	144945055	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144945055G>A	ENST00000525985.1	-	2	2438	c.2367C>T	c.(2365-2367)ccC>ccT	p.P789P				P58107	EPIPL_HUMAN	epiplakin 1	48	142	0	96	789						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	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)			GGCCCGTCTCGGGGTCACGCA	0.627000													1	1	1	1	1	1	1.000000	53	162	0	103	0	0	0	0	0	103	5
PLEC	5339	broad.mit.edu	37	8	144997961	144997961	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144997961G>A	ENST00000322810.4	-	31	6716	c.6547C>T	c.(6547-6549)Cgg>Tgg	p.R2183W	PLEC_ENST00000527096.1_Missense_Mutation_p.R2069W|PLEC_ENST00000357649.2_Missense_Mutation_p.R2050W|PLEC_ENST00000398774.2_Missense_Mutation_p.R2014W|PLEC_ENST00000356346.3_Missense_Mutation_p.R2032W|PLEC_ENST00000345136.3_Missense_Mutation_p.R2046W|PLEC_ENST00000354589.3_Missense_Mutation_p.R2046W|PLEC_ENST00000354958.2_Missense_Mutation_p.R2024W|PLEC_ENST00000436759.2_Missense_Mutation_p.R2073W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	5	19	0	12	2183	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGCAGCCGCTTCTGGGCG	0.701000													0	1	1	0	0	1	0.985191	7	23	0	13	0	6.666217e-01	0	6	0	13	2
KIAA1432	57589	broad.mit.edu	37	9	5774180	5774180	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:5774180G>T	ENST00000414202.2	+	26	4397	c.4206G>T	c.(4204-4206)gaG>gaT	p.E1402D	KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1323D|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E1286D	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	32	50	0	82	1402						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGAAAGAGGAGGACACAGCCC	0.547000													1	1	1	1	1	1	1.000000	35	56	0	89	1	8.141770e-01	2	5	0	89	5
PTPRD	5789	broad.mit.edu	37	9	8521547	8521547	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:8521547C>T	ENST00000381196.4	-	17	1235		c.e17-1		PTPRD_ENST00000358503.5_Splice_Site|PTPRD_ENST00000486161.1_Splice_Site|PTPRD_ENST00000356435.5_Splice_Site|PTPRD_ENST00000397606.3_Splice_Site|PTPRD_ENST00000540109.1_Splice_Site|PTPRD_ENST00000397611.3_Splice_Site|PTPRD_ENST00000397617.3_Splice_Site|PTPRD_ENST00000355233.5_Splice_Site|PTPRD_ENST00000537002.1_Splice_Site|PTPRD_ENST00000360074.4_Splice_Site	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	34	45	0	96						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		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)		ACACGGCGAACTGGAACAAAA	0.438000										TSP Lung(15;0.13)			1	1	1	1	1	1	1.000000	40	51	0	103	0	0	0	0	0	103	5
FOCAD	54914	broad.mit.edu	37	9	20758097	20758097	+	Missense_Mutation	SNP	C	C	A	rs143814736	by1000genomes	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:20758097C>A	ENST00000380249.1	+	8	765	c.401C>A	c.(400-402)cCt>cAt	p.P134H	FOCAD_ENST00000338382.6_Missense_Mutation_p.P134H	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	16	22	0	40	134						integral to membrane	binding										AGAAATCATCCTCATCCTTTG	0.433000													1	1	1	1	1	1	0.999993	17	28	0	43	0	0	1	0	0	43	5
IFNW1	3467	broad.mit.edu	37	9	21141170	21141170	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:21141170C>T	ENST00000380229.2	-	1	974	c.400G>A	c.(400-402)Ggg>Agg	p.G134R		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	33	44	0	92	134					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTAATTGCCCCAGCAGATTCT	0.527000													1	1	1	1	1	1	1.000000	34	49	0	94	0	0	0	0	0	94	5
IFNW1	3467	broad.mit.edu	37	9	21141286	21141286	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:21141286C>T	ENST00000380229.2	-	1	858	c.284G>A	c.(283-285)cGc>cAc	p.R95H		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	42	64	0	144	95			R -> S (in dbSNP:rs2230055).		cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGCAGAGGAGCGCTCTGTGTG	0.557000													1	1	1	1	1	1	1.000000	45	67	0	156	0	0	0	0	0	156	5
SMU1	55234	broad.mit.edu	37	9	33053232	33053232	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:33053232G>A	ENST00000397149.3	-	10	1229	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	SMU1_ENST00000536631.1_Silent_p.T232T	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	38	47	0	92	393						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CTGTCCCTGCGGTGCTGCCCA	0.398000													0	1	1	1	1	1	1.000000	40	54	0	96	0	1	0	52	0	96	4
FAM214B	80256	broad.mit.edu	37	9	35105812	35105812	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:35105812C>T	ENST00000378561.1	-	7	4385	c.1330G>A	c.(1330-1332)Gtg>Atg	p.V444M	FAM214B_ENST00000378557.1_Missense_Mutation_p.V444M|FAM214B_ENST00000605244.1_Missense_Mutation_p.V444M|FAM214B_ENST00000488109.2_Missense_Mutation_p.V444M|FAM214B_ENST00000378554.2_Intron|FAM214B_ENST00000322813.5_Missense_Mutation_p.V444M|FAM214B_ENST00000603301.1_Missense_Mutation_p.V444M|FAM214B_ENST00000378566.1_Missense_Mutation_p.V139M			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	24	42	0	76	444						nucleus											TCAAAGGTCACAAGGAACATC	0.547000													1	1	1	1	1	1	1.000000	28	49	0	86	0	4.661561e-01	1	3	0	86	5
RUSC2	9853	broad.mit.edu	37	9	35555086	35555086	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:35555086C>T	ENST00000455600.1	+	3	2613	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	71	91	0	175	682						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ACCAGTCCTTCGCTACAGCAA	0.577000													1	1	1	1	1	1	1.000000	80	101	0	189	0	0	0	1	0	189	5
FRMPD1	22844	broad.mit.edu	37	9	37740148	37740148	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:37740148C>T	ENST00000539465.1	+	15	2216	c.1623C>T	c.(1621-1623)gaC>gaT	p.D541D	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Silent_p.D410D|FRMPD1_ENST00000377765.3_Silent_p.D541D|FRMPD1_ENST00000536622.1_Silent_p.D363D			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	49	88	0	149	541						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCTCTCTGACAGGCGCCTGG	0.587000													1	1	1	1	1	1	1.000000	50	93	0	154	0	0	0	0	0	154	5
ALDH1B1	219	broad.mit.edu	37	9	38395909	38395909	+	Missense_Mutation	SNP	C	C	T	rs144062423	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:38395909C>T	ENST00000377698.3	+	2	317	c.164C>T	c.(163-165)cCg>cTg	p.P55L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	37	63	0	150	55					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AAGACCTTCCCGACGGTCAAC	0.597000													1	1	1	1	1	1	1.000000	41	69	0	159	1	9.939790e-01	10	7	0	159	5
SPATA31A6	389730	broad.mit.edu	37	9	43627119	43627119	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:43627119G>A	ENST00000332857.6	-	4	1596	c.1568C>T	c.(1567-1569)gCa>gTa	p.A523V		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6	150	208	0	634																		ATTCTGCGATGCAGGGCAAGC	0.502000													1	0	1	1	0	1	1.000000	156	217	0	526	0	0	0	0	0	526	3
GNAQ	2776	broad.mit.edu	37	9	80343579	80343579	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:80343579C>T	ENST00000286548.4	-	6	962	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	GNAQ_ENST00000397476.3_Missense_Mutation_p.R45Q	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	53	85	0	130	247					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						TTCCTCCATTCGGTTCTGGAA	0.333000			Mis		uveal melanoma								1	1	1	1	1	1	1.000000	60	93	0	136	0	0	0	1	0	136	5
SLC28A3	64078	broad.mit.edu	37	9	86900965	86900965	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:86900965C>T	ENST00000376238.4	-	13	1391	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	RP11-380F14.2_ENST00000419815.1_RNA|SLC28A3_ENST00000537648.1_Missense_Mutation_p.A379T	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	16	19	0	62	448					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GCGATGTTGGCCACCAGGGAG	0.473000													1	1	1	1	1	1	0.999995	17	21	0	65	0	0	0	0	0	65	5
SPIN1	10927	broad.mit.edu	37	9	91083304	91083304	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:91083304G>A	ENST00000375859.3	+	5	651	c.373G>A	c.(373-375)Gat>Aat	p.D125N	SPIN1_ENST00000541629.1_Missense_Mutation_p.D125N|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	23	31	0	89	125					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TCGAATCAGCGATGCACACTT	0.413000													1	1	1	1	1	1	1.000000	23	34	0	92	0	0	0	1	0	92	5
SECISBP2	79048	broad.mit.edu	37	9	91964840	91964840	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:91964840A>G	ENST00000375807.3	+	13	1959	c.1888A>G	c.(1888-1890)Agg>Ggg	p.R630G	SECISBP2_ENST00000534113.2_Missense_Mutation_p.R562G|SECISBP2_ENST00000339901.4_Missense_Mutation_p.R557G	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	30	38	0	82	630					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCGCAGATTCAGGGAGTGAGT	0.567000													1	1	1	1	1	1	1.000000	34	39	0	91	1	9.961708e-01	8	6	0	91	5
ROR2	4920	broad.mit.edu	37	9	94486999	94486999	+	Missense_Mutation	SNP	C	C	T	rs146067291		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:94486999C>T	ENST00000375708.3	-	9	1975	c.1777G>A	c.(1777-1779)Gtg>Atg	p.V593M	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.V453M	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	20	29	0	86	593	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			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACAAGGTGCACGAAGTCGGGG	0.632000													1	1	1	1	1	1	1.000000	28	34	0	88	1	2.091346e-01	2	0	0	88	5
PTCH1	5727	broad.mit.edu	37	9	98238411	98238411	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:98238411C>A	ENST00000430669.2	-	12	2020	c.1435G>T	c.(1435-1437)Gga>Tga	p.G479*	PTCH1_ENST00000418258.1_Nonsense_Mutation_p.G394*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.G394*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.G544*|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.G394*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.G479*|PTCH1_ENST00000331920.6_Nonsense_Mutation_p.G545*			Q13635	PTC1_HUMAN	patched 1	13	11	0	29	545	SSD.				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			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACGCTGGCTCCTGTGCGCTTC	0.592000													1	1	1	1	0	1	0.999961	14	13	0	31	0	0	0	0	0	31	4
TSTD2	158427	broad.mit.edu	37	9	100367047	100367047	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:100367047T>C	ENST00000341170.4	-	9	1596	c.1214A>G	c.(1213-1215)gAa>gGa	p.E405G	TSTD2_ENST00000354801.2_Missense_Mutation_p.E145G|TSTD2_ENST00000375172.2_Missense_Mutation_p.E179G|TSTD2_ENST00000375165.1_Missense_Mutation_p.E145G	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	49	66	0	121	405										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						AGCATAGCGTTCATCAAAAAC	0.468000													1	1	1	1	1	1	1.000000	54	72	0	132	0	1.865310e-01	1	1	0	132	5
TEX10	54881	broad.mit.edu	37	9	103108398	103108398	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:103108398G>T	ENST00000374902.4	-	4	1269	c.1093C>A	c.(1093-1095)Ctt>Att	p.L365I	TEX10_ENST00000535814.1_Missense_Mutation_p.L368I|TEX10_ENST00000537512.1_Missense_Mutation_p.L300I	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	9	39	0	40	365						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTCCACAGAAGGGAAATAATA	0.373000													1	1	1	1	1	1	0.997815	10	43	0	42	1	4.184658e-01	2	5	0	42	5
C9orf84	158401	broad.mit.edu	37	9	114543240	114543240	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:114543240G>A	ENST00000374287.3	-	4	295	c.35C>T	c.(34-36)gCa>gTa	p.A12V	C9orf84_ENST00000374283.5_Missense_Mutation_p.A76V|C9orf84_ENST00000318737.4_Missense_Mutation_p.A12V			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	31	37	0	55	12										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAAGAAACTTGCTTTCCATTG	0.353000													1	1	1	1	1	1	1.000000	36	41	0	62	0	0	0	0	0	62	5
RGS3	5998	broad.mit.edu	37	9	116356773	116356773	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:116356773T>C	ENST00000374140.2	+	23	3353	c.3144T>C	c.(3142-3144)ccT>ccC	p.P1048P	RGS3_ENST00000394646.3_Silent_p.P441P|RGS3_ENST00000342620.5_Silent_p.P18P|RGS3_ENST00000462143.1_Silent_p.P369P|RGS3_ENST00000343817.5_Silent_p.P767P|RGS3_ENST00000462403.1_Silent_p.P161P|RGS3_ENST00000374134.3_Silent_p.P369P|RGS3_ENST00000350696.5_Silent_p.P1048P	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	35	70	0	93	1048					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CTGGAGCCCCTCCCGCGGGCA	0.587000													1	1	1	1	1	1	1.000000	40	83	0	104	1	9.727723e-01	3	12	0	104	5
OR1L1	26737	broad.mit.edu	37	9	125424190	125424190	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:125424190C>T	ENST00000373686.1	+	1	346	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	44	75	0	136	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TCTAAGCATCCTGTCTTTTGT	0.453000													1	1	1	1	1	1	1.000000	44	86	0	146	0	0	0	0	0	146	5
SLC25A25	114789	broad.mit.edu	37	9	130860955	130860955	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:130860955G>A	ENST00000373064.5	+	1	373	c.110G>A	c.(109-111)aGt>aAt	p.S37N	SLC25A25_ENST00000433501.1_5'UTR|SLC25A25_ENST00000432073.2_Intron|SLC25A25_ENST00000373066.5_Intron|SLC25A25_ENST00000373068.2_Intron|SLC25A25_ENST00000373069.5_Intron	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	66	94	0	140	37					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TTCAAGCTCAGTGTCTTCATC	0.582000													1	1	1	1	1	1	1.000000	77	100	0	149	0	0	0	0	0	149	5
LRRC8A	56262	broad.mit.edu	37	9	131670971	131670971	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:131670971C>T	ENST00000259324.5	+	3	2051	c.1528C>T	c.(1528-1530)Ctg>Ttg	p.L510L	LRRC8A_ENST00000372599.3_Silent_p.L510L|LRRC8A_ENST00000372600.4_Silent_p.L510L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	24	28	0	49	510					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GGAGATCCCGCTGTGGATCTA	0.612000													1	1	1	1	1	1	1.000000	25	31	0	54	1	9.493962e-01	3	6	0	54	5
DOLK	22845	broad.mit.edu	37	9	131709514	131709514	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:131709514C>A	ENST00000372586.3	-	1	384	c.69G>T	c.(67-69)gaG>gaT	p.E23D	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	52	50	0	51	23					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			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CTACTGCCGCCTCTGCCAGCA	0.662000													1	1	1	1	1	1	1.000000	60	57	0	57	1	8.227245e-01	2	3	0	57	5
USP20	0	broad.mit.edu	37	9	132630693	132630693	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:132630693C>A	ENST00000315480.4	+	11	1258	c.1100C>A	c.(1099-1101)cCg>cAg	p.P367Q	USP20_ENST00000358355.1_Missense_Mutation_p.P367Q|USP20_ENST00000372429.3_Missense_Mutation_p.P367Q			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	33	62	0	74	367					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			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GCCCAGCCCCCGTCACCACGG	0.677000													1	1	1	1	1	1	1.000000	34	66	0	79	1	4.187369e-01	3	1	0	79	5
POMT1	10585	broad.mit.edu	37	9	134381807	134381807	+	Translation_Start_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:134381807G>A	ENST00000404875.2	+	0	190				POMT1_ENST00000419118.2_De_novo_Start_OutOfFrame|POMT1_ENST00000541219.1_De_novo_Start_InFrame|POMT1_ENST00000341012.7_Missense_Mutation_p.D29N|POMT1_ENST00000423007.1_Missense_Mutation_p.D83N|POMT1_ENST00000354713.4_Missense_Mutation_p.R47Q|POMT1_ENST00000372228.3_Missense_Mutation_p.D83N|POMT1_ENST00000402686.3_Missense_Mutation_p.D83N	NM_001136114.1	NP_001129586.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	83	122	0	133						multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AGGAGGATTCGATGGCAATTT	0.348000													1	1	1	1	1	1	1.000000	99	147	0	159	0	5.296447e-01	1	3	0	159	5
POMT1	10585	broad.mit.edu	37	9	134382768	134382768	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:134382768C>T	ENST00000423007.1	+	5	736	c.294C>T	c.(292-294)aaC>aaT	p.N98N	POMT1_ENST00000419118.2_Intron|POMT1_ENST00000404875.2_5'UTR|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000341012.7_Silent_p.N44N|POMT1_ENST00000354713.4_Silent_p.N68N|POMT1_ENST00000372228.3_Silent_p.N98N|POMT1_ENST00000402686.3_Silent_p.N98N	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	54	80	0	136	98					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		ACAGTAGCAACGTGCCTGTGT	0.557000													1	1	1	1	1	1	1.000000	63	89	0	151	0	0	1	0	0	151	5
AK8	158067	broad.mit.edu	37	9	135702409	135702409	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:135702409C>T	ENST00000298545.3	-	8	1110	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	105	145	0	193	197						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.E197K(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						ATTTCAGATTCGGGTGGCCAG	0.542000													1	1	1	1	1	1	1.000000	111	159	0	200	0	0	0	0	0	200	5
DBH	1621	broad.mit.edu	37	9	136508685	136508685	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:136508685C>A	ENST00000393056.2	+	4	907	c.895C>A	c.(895-897)Ctg>Atg	p.L299M		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	33	56	0	117	299					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			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCGCCACGTGCTGGCCGCCTG	0.682000													1	1	1	1	1	1	1.000000	43	67	0	122	0	0	0	0	0	122	5
SARDH	1757	broad.mit.edu	37	9	136595269	136595269	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:136595269G>A	ENST00000371872.4	-	5	988	c.731C>T	c.(730-732)aCg>aTg	p.T244M	SARDH_ENST00000298628.5_Missense_Mutation_p.T244M|SARDH_ENST00000371867.1_Missense_Mutation_p.T155M|SARDH_ENST00000422262.2_Missense_Mutation_p.T76M|SARDH_ENST00000439388.1_Missense_Mutation_p.T244M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	33	55	0	129	244					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		AAAATCATCCGTCCACACACG	0.587000													1	1	1	1	1	1	1.000000	44	75	0	149	0	0	0	1	0	149	5
COL5A1	1289	broad.mit.edu	37	9	137687154	137687154	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:137687154G>C	ENST00000371817.3	+	34	3206	c.2792G>C	c.(2791-2793)gGc>gCc	p.G931A		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	43	78	0	71	931	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			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		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)		GGGAAGCCTGGCCCCAAGGTA	0.602000													1	1	1	1	1	1	1.000000	51	90	0	80	0	0	0	1	0	80	5
OLFM1	10439	broad.mit.edu	37	9	138011985	138011985	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:138011985C>T	ENST00000252854.4	+	6	1552	c.1365C>T	c.(1363-1365)aaC>aaT	p.N455N	OLFM1_ENST00000371793.3_Silent_p.N473N|OLFM1_ENST00000371796.3_Silent_p.N446N	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	23	43	0	117	473	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		TCCTCTACAACGTGACCCTCT	0.572000													1	1	1	1	1	1	1.000000	25	49	0	134	0	0	0	1	0	134	5
MRPS2	51116	broad.mit.edu	37	9	138392884	138392884	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:138392884G>A	ENST00000371785.1	+	3	293	c.84G>A	c.(82-84)aaG>aaA	p.K28K	MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_Intron|MRPS2_ENST00000241600.5_Silent_p.K28K			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	17	25	0	37	28					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		TTCTCGGGAAGGCGACCCCCC	0.711000													1	1	1	1	0	1	0.999998	19	31	0	42	1	9.999908e-01	20	23	0	42	4
SNAPC4	6621	broad.mit.edu	37	9	139273254	139273254	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139273254G>T	ENST00000298532.2	-	21	3393	c.3025C>A	c.(3025-3027)Ctg>Atg	p.L1009M		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	11	21	0	27	1009	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			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCGGGGCCCAGGGCAGGGGCT	0.682000													1	1	1	1	0	1	0.999842	13	23	0	29	1	9.922847e-01	7	12	0	29	4
NOTCH1	4851	broad.mit.edu	37	9	139418329	139418329	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139418329G>A	ENST00000277541.6	-	3	318	c.243C>T	c.(241-243)ggC>ggT	p.G81G	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	13	11	0	11	81	EGF-like 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			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGTCTGCCACGCCTCTGCGGT	0.697000			T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)			0	1	1	1	1	1	0.999965	14	13	0	11	0	0	0	0	0	11	4
FBXW5	54461	broad.mit.edu	37	9	139836499	139836499	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139836499G>A	ENST00000325285.3	-	6	1174	c.1096_splice	c.e6+1	p.I365_splice	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	8	18	0	25	365							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	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)		GGGGTGTACCGATCTGGTGTG	0.662000													1	1	1	1	1	1	0.996615	9	21	0	27	1	9.999836e-01	21	41	0	27	5
EXD3	54932	broad.mit.edu	37	9	140243587	140243587	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:140243587G>A	ENST00000340951.4	-	16	2000	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V	EXD3_ENST00000342129.4_Missense_Mutation_p.A282V	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	10	12	0	24	602					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CGGTGCTGACGCTTTCTGCAG	0.667000													1	1	1	1	1	1	0.999439	11	15	0	28	0	0	0	1	0	28	5
AKR1CL1	340811	broad.mit.edu	37	10	5204938	5204938	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:5204938C>T	ENST00000334314.3	-	2	215	c.139G>A	c.(139-141)Gta>Ata	p.V47I						aldo-keto reductase family 1, member C-like 1	72	81	0	145											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CGGAAGCCTACGTCAATAGCC	0.473000													1	1	1	1	1	1	1.000000	75	97	0	154	0	0	0	0	0	154	5
NET1	10276	broad.mit.edu	37	10	5494824	5494824	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:5494824A>G	ENST00000355029.4	+	6	677	c.535A>G	c.(535-537)Ata>Gta	p.I179V	NET1_ENST00000380359.3_Missense_Mutation_p.I125V|NET1_ENST00000542715.1_5'UTR	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	9	73	0	73	179	DH.				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(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						TTTTTAGGCAATATATGAAAT	0.323000													1	1	1	1	1	1	0.997397	10	85	0	81	0	6.949435e-02	1	3	0	81	5
NUDT5	11164	broad.mit.edu	37	10	12214859	12214859	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:12214859C>T	ENST00000491614.1	-	7	787	c.392G>A	c.(391-393)tGt>tAt	p.C131Y	NUDT5_ENST00000378940.3_Missense_Mutation_p.C131Y|NUDT5_ENST00000537776.1_Missense_Mutation_p.C131Y|NUDT5_ENST00000378937.3_Missense_Mutation_p.C144Y|NUDT5_ENST00000378927.3_Missense_Mutation_p.C131Y|NUDT5_ENST00000378952.3_5'UTR			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	17	25	0	31	131	Nudix hydrolase.				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				TGGGTCCATACAGACCGCTGT	0.507000													1	1	1	1	1	1	0.999999	19	28	0	33	1	1	119	202	0	33	5
CUBN	8029	broad.mit.edu	37	10	17126304	17126304	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:17126304T>C	ENST00000377833.4	-	17	2332	c.2267A>G	c.(2266-2268)cAa>cGa	p.Q756R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	38	41	0	76	756	CUB 3.				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			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTCTGGCATTGCAGCTCCAC	0.443000													1	1	1	1	1	1	1.000000	46	48	0	91	0	0	0	0	0	91	5
CACNB2	783	broad.mit.edu	37	10	18787305	18787305	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:18787305G>A	ENST00000396576.2	+	3	691	c.190G>A	c.(190-192)Gtt>Att	p.V64I	CACNB2_ENST00000377328.1_Missense_Mutation_p.V119I|CACNB2_ENST00000324631.7_Missense_Mutation_p.V119I|CACNB2_ENST00000282343.8_Missense_Mutation_p.V91I|CACNB2_ENST00000377329.4_Missense_Mutation_p.V65I|CACNB2_ENST00000377319.3_Missense_Mutation_p.V64I|CACNB2_ENST00000377315.4_Missense_Mutation_p.V71I|CACNB2_ENST00000352115.6_Missense_Mutation_p.V119I|CACNB2_ENST00000377331.2_Missense_Mutation_p.V91I	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	20	32	0	73	119					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGCATTTGCGGTTCGGACAAA	0.448000													1	1	1	1	1	1	1.000000	22	36	0	74	0	0	0	0	0	74	5
KIAA1217	56243	broad.mit.edu	37	10	24831988	24831988	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:24831988G>A	ENST00000376451.2	+	14	3098	c.2838G>A	c.(2836-2838)gtG>gtA	p.V946V	KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Silent_p.V1263V|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	36	29	0	56	1263					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGAAACTGTGCCTAAGGCCA	0.383000													1	1	1	1	1	1	1.000000	43	31	0	58	0	0	0	1	0	58	5
GPR158	57512	broad.mit.edu	37	10	25464418	25464418	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:25464418C>T	ENST00000376351.3	+	1	428	c.69C>T	c.(67-69)ggC>ggT	p.G23G	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	35	92	0	110	23						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAGCTGTTGGCGCCAGCCGCG	0.667000													1	1	1	1	0	1	1.000000	42	110	0	127	0	0	0	0	0	127	4
MYO3A	53904	broad.mit.edu	37	10	26436415	26436415	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:26436415C>T	ENST00000265944.5	+	23	2728	c.2562C>T	c.(2560-2562)gaC>gaT	p.D854D	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	34	75	0	139	854	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			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTCCTACTGACATTGTGCTAC	0.393000													1	1	1	1	1	1	1.000000	40	83	0	156	0	0	0	0	0	156	5
ACBD5	91452	broad.mit.edu	37	10	27494154	27494154	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:27494154C>T	ENST00000396271.3	-	11	1554	c.1428G>A	c.(1426-1428)ttG>ttA	p.L476L	ACBD5_ENST00000375897.3_Silent_p.L299L|ACBD5_ENST00000375888.1_Silent_p.L485L|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Silent_p.L441L|ACBD5_ENST00000375901.1_Silent_p.L367L	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	34	63	1	88	485					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GAGCAGTCTGCAATGTTGATG	0.313000													1	0	1	1	1	1	1.000000	38	71	1	105	1	9.995025e-01	18	15	1	105	4
SVIL	6840	broad.mit.edu	37	10	29812587	29812587	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:29812587C>A	ENST00000375398.2	-	17	3405	c.2956G>T	c.(2956-2958)Gac>Tac	p.D986Y	SVIL_ENST00000375400.3_Missense_Mutation_p.D560Y|SVIL_ENST00000355867.4_Missense_Mutation_p.D986Y			O95425	SVIL_HUMAN	supervillin	37	58	0	98	986					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTATGGCTGTCTCCTTCCCTG	0.532000													1	1	1	1	1	1	1.000000	39	60	0	99	0	0	0	0	0	99	5
SVIL	6840	broad.mit.edu	37	10	29822253	29822253	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:29822253G>A	ENST00000375398.2	-	10	1492	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.A348V			O95425	SVIL_HUMAN	supervillin	50	41	0	87	348					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCTATCAAAGGCTGAGTGCTC	0.572000													1	1	1	1	1	1	1.000000	58	49	0	94	0	0	0	0	0	94	5
ZNF22	7570	broad.mit.edu	37	10	45499133	45499133	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:45499133C>T	ENST00000298299.3	+	2	910	c.317C>T	c.(316-318)aCg>aTg	p.T106M	CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	24	60	0	86	106					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				CGGATCCATACGGGGGAAAAG	0.418000													1	1	1	1	0	1	1.000000	26	66	0	89	1	9.999472e-01	18	28	0	89	4
ANK3	288	broad.mit.edu	37	10	61832912	61832912	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:61832912C>A	ENST00000280772.1	-	37	7918	c.7727G>T	c.(7726-7728)aGg>aTg	p.R2576M	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	37	104	0	140	2576					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTGTCCACCCTATCTTCATA	0.423000													1	1	1	1	1	1	1.000000	38	106	0	153	0	0	0	0	0	153	5
RTKN2	219790	broad.mit.edu	37	10	63995969	63995969	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:63995969G>A	ENST00000373789.3	-	6	638	c.542C>T	c.(541-543)aCa>aTa	p.T181I	RTKN2_ENST00000395265.1_Missense_Mutation_p.T181I|RTKN2_ENST00000315289.2_5'UTR	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	18	41	0	28	181					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AGATTCTTCTGTACAGCAACT	0.348000													1	1	1	1	1	1	0.999999	21	48	0	33	0	9.898279e-02	1	1	0	33	5
LRRTM3	347731	broad.mit.edu	37	10	68686815	68686815	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:68686815T>C	ENST00000361320.4	+	2	719	c.141T>C	c.(139-141)tgT>tgC	p.C47C	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	20	70	0	81	47	LRRNT.					integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGGTATATTGTGAATCTCAGA	0.423000													1	1	1	1	1	1	0.999999	21	72	0	85	0	0	0	0	0	85	5
ZSWIM8	23053	broad.mit.edu	37	10	75550867	75550867	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:75550867A>G	ENST00000604729.1	+	8	1373	c.1076A>G	c.(1075-1077)aAg>aGg	p.K359R	ZSWIM8_ENST00000398706.2_Missense_Mutation_p.K359R|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.K359R|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.K359R					zinc finger, SWIM-type containing 8	23	65	0	64																		GAGATGTTCAAGCGGAGGGAC	0.607000													1	1	1	1	1	1	1.000000	23	69	0	66	1	3.781395e-01	2	3	0	66	5
DLG5	9231	broad.mit.edu	37	10	79552204	79552204	+	Silent	SNP	C	C	T	rs148200124		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:79552204C>T	ENST00000372391.2	-	32	5759	c.5754G>A	c.(5752-5754)ccG>ccA	p.P1918P	RP13-39P12.3_ENST00000434097.2_RNA|DLG5_ENST00000372388.2_Silent_p.P1578P	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	69	148	0	195	1918					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			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	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)			TCTCCTAGAGCGGGCAGGCTG	0.532000													1	1	1	1	1	1	1.000000	83	183	0	218	1	9.874588e-01	6	12	0	218	5
PTEN	5728	broad.mit.edu	37	10	89692910	89692910	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:89692910G>A	ENST00000371953.3	+	5	1751	c.394G>A	c.(394-396)Ggt>Agt	p.G132S		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	122	79	0	123	132	Phosphatase tensin-type.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).		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.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132S(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		GGGACGAACTGGTGTAATGAT	0.398000		31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	1	1	1	1	1	1.000000	139	93	0	133	1	1	30	5	0	133	5
IFIT1	3434	broad.mit.edu	37	10	91163163	91163163	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:91163163G>A	ENST00000546318.1	+	2	2325	c.1038G>A	c.(1036-1038)atG>atA	p.M346I	IFIT1_ENST00000371804.3_Missense_Mutation_p.M377I|LIPA_ENST00000371837.1_Intron	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	48	25	0	52	377					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGAAACAATGCAAGACATAC	0.338000													1	1	1	1	1	1	1.000000	51	28	0	55	1	1	335	180	0	55	5
HECTD2	143279	broad.mit.edu	37	10	93221892	93221892	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:93221892G>T	ENST00000446394.1	+	5	651	c.551G>T	c.(550-552)gGg>gTg	p.G184V	HECTD2_ENST00000371681.4_Missense_Mutation_p.G184V|HECTD2_ENST00000298068.5_Missense_Mutation_p.G184V			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	43	164	0	158	184					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GAAGACTCTGGGATTAATGCT	0.294000													1	1	1	1	1	1	1.000000	50	197	0	182	0	1.881601e-01	1	3	0	182	5
KIF11	3832	broad.mit.edu	37	10	94408154	94408154	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:94408154C>T	ENST00000260731.3	+	19	2823	c.2733C>T	c.(2731-2733)tgC>tgT	p.C911C		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	30	94	0	77	911					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			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCTTAATTGCTTTCTGGAAC	0.299000													1	1	1	1	1	1	1.000000	34	107	0	85	1	9.999997e-01	28	55	0	85	5
GOT1	2805	broad.mit.edu	37	10	101163312	101163312	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:101163312G>A	ENST00000370508.5	-	7	900	c.873C>T	c.(871-873)atC>atT	p.I291I	GOT1_ENST00000543866.1_Silent_p.I270I	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	93	67	0	148	291					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TAATCCGCACGATCTTCTCCA	0.537000													1	1	1	1	1	1	1.000000	105	71	0	164	1	1	72	50	0	164	5
ACTR1A	10121	broad.mit.edu	37	10	104241927	104241927	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:104241927A>G	ENST00000369905.4	-	8	819	c.756T>C	c.(754-756)ggT>ggC	p.G252G	ACTR1A_ENST00000545684.1_Silent_p.G178G|ACTR1A_ENST00000487599.1_Silent_p.G252G|ACTR1A_ENST00000470322.1_5'UTR|ACTR1A_ENST00000446605.2_Silent_p.G205G	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	51	150	1	148	252					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		ATCGGGAAGGACCAATCTGCA	0.572000													1	0	1	1	1	1	1.000000	54	167	2	157	1	1	47	101	2	157	4
WDR96	80217	broad.mit.edu	37	10	105957717	105957717	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:105957717G>A	ENST00000357060.3	-	9	1290	c.1175C>T	c.(1174-1176)gCa>gTa	p.A392V	WDR96_ENST00000428666.1_Missense_Mutation_p.A393V|WDR96_ENST00000278064.2_Missense_Mutation_p.A323V|WDR96_ENST00000369720.1_Missense_Mutation_p.A323V	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	38	27	0	37	392										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AAAGTCAATTGCCTGAAATTT	0.343000													1	1	1	1	1	1	1.000000	41	33	0	39	0	0	0	0	0	39	5
WDR96	80217	broad.mit.edu	37	10	105965735	105965735	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:105965735G>T	ENST00000357060.3	-	7	1064	c.949C>A	c.(949-951)Ctg>Atg	p.L317M	WDR96_ENST00000428666.1_Missense_Mutation_p.L318M|WDR96_ENST00000278064.2_Missense_Mutation_p.L248M|WDR96_ENST00000369719.1_Missense_Mutation_p.L248M|WDR96_ENST00000369720.1_Missense_Mutation_p.L248M	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	27	10	0	34	317										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCAGAAGCCAGCACGCCCTCC	0.328000													1	1	1	1	1	1	1.000000	35	12	0	37	0	0	0	0	0	37	5
CCDC147	159686	broad.mit.edu	37	10	106121801	106121801	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:106121801G>T	ENST00000369704.3	+	3	446	c.312G>T	c.(310-312)aaG>aaT	p.K104N	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	42	26	0	63	104										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		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)		AGGCCTGGAAGATGGTGGACT	0.448000													1	1	1	1	1	1	1.000000	49	31	0	68	0	0	0	0	0	68	5
NRAP	4892	broad.mit.edu	37	10	115410306	115410306	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:115410306T>C	ENST00000369358.4	-	8	920		c.e8-2		NRAP_ENST00000359988.3_Splice_Site|NRAP_ENST00000369360.3_Splice_Site|NRAP_ENST00000360478.3_Splice_Site			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	19	41	0	40							fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTATCTCACCTGAAATGAAAA	0.458000													1	1	1	1	1	1	1.000000	21	44	0	42	0	0	0	0	0	42	5
FGFR2	2263	broad.mit.edu	37	10	123279677	123279677	+	Missense_Mutation	SNP	G	G	C	rs121918498		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:123279677G>C	ENST00000358487.5	-	7	1027	c.755C>G	c.(754-756)tCg>tGg	p.S252W	FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000478859.1_Missense_Mutation_p.S24W|FGFR2_ENST00000369059.1_Missense_Mutation_p.S137W|FGFR2_ENST00000457416.2_Missense_Mutation_p.S252W|FGFR2_ENST00000356226.4_Missense_Mutation_p.S137W|FGFR2_ENST00000346997.2_Missense_Mutation_p.S252W|FGFR2_ENST00000357555.5_Missense_Mutation_p.S163W|FGFR2_ENST00000351936.6_Missense_Mutation_p.S252W|FGFR2_ENST00000369060.4_Missense_Mutation_p.S252W|FGFR2_ENST00000360144.3_Missense_Mutation_p.S163W|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369056.1_Missense_Mutation_p.S252W	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	12	27	0	39	252			S -> F (in APRS; requires 2 nucleotide substitutions).|S -> L (in CS).|S -> W (in APRS and PS; common mutation).|SP -> FS (in PS).		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 receptor activity|heparin binding|protein binding	p.S252W(68)|p.S163W(13)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		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)	CCGGTGAGGCGATCGCTCTGG	0.557000	S252W(MFE280_ENDOMETRIUM)	5	Mis		gastric. NSCLC, endometrial		Crouzon, Pfeiffer, and Apert syndromes		Saethre-Chotzen syndrome;Apert syndrome				0	1	1	0	0	1	0.999594	12	28	0	41	0	8.705114e-01	0	11	0	41	2
FGFR2	2263	broad.mit.edu	37	10	123325123	123325123	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:123325123C>T	ENST00000358487.5	-	3	477	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.V69M|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000346997.2_Missense_Mutation_p.V69M|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000359354.2_Missense_Mutation_p.V69M|FGFR2_ENST00000351936.6_Missense_Mutation_p.V69M|FGFR2_ENST00000369060.4_Missense_Mutation_p.V69M|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000369061.4_Missense_Mutation_p.V69M|FGFR2_ENST00000369056.1_Missense_Mutation_p.V69M	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	81	157	0	194	69	Ig-like C2-type 1.				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 receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		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)	CAACTGATCACGGCGGCATCT	0.552000		5	Mis		gastric. NSCLC, endometrial		Crouzon, Pfeiffer, and Apert syndromes		Saethre-Chotzen syndrome;Apert syndrome				1	1	1	1	1	1	1.000000	90	180	0	212	0	9.703093e-01	0	14	0	212	5
FAM53B	9679	broad.mit.edu	37	10	126311887	126311887	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:126311887C>A	ENST00000337318.3	-	5	1404	c.1193G>T	c.(1192-1194)cGg>cTg	p.R398L	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Missense_Mutation_p.R398L	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	65	42	0	68	398										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		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)		CCCGCGGTCCCGCCAGGCTGC	0.672000													1	1	1	1	0	1	1.000000	72	50	0	68	0	0	1	0	0	68	4
JAKMIP3	282973	broad.mit.edu	37	10	133958682	133958682	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:133958682G>A	ENST00000298622.4	+	11	1812	c.1674G>A	c.(1672-1674)gcG>gcA	p.A558A	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3	11	29	0	14											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		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)		AGGCCCTGGCGGAGCAGGGGC	0.607000													1	1	1	1	1	1	0.999078	11	31	0	16	0	0	0	0	0	16	5
GPR123	84435	broad.mit.edu	37	10	134941910	134941910	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:134941910A>G	ENST00000607359.1	+	16	2735	c.2735A>G	c.(2734-2736)tAc>tGc	p.Y912C	GPR123_ENST00000392606.2_Missense_Mutation_p.Y96C|GPR123_ENST00000392607.3_Missense_Mutation_p.Y193C			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	20	22	0	33	193						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		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)		ACCTGTGTGTACTTCCTGGGC	0.701000													1	0	1	1	0	1	1.000000	22	24	0	39	0	0	0	0	0	39	3
RIC8A	60626	broad.mit.edu	37	11	214328	214328	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:214328A>G	ENST00000526104.1	+	10	2918	c.1574A>G	c.(1573-1575)gAc>gGc	p.D525G	RIC8A_ENST00000325207.5_Missense_Mutation_p.D531G|RIC8A_ENST00000531541.1_3'UTR|RIC8A_ENST00000527696.1_Missense_Mutation_p.D519G			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	4	10	0	34	525						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		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)		CTCTCctcggaccctgactcg	0.597000													1	0	1	1	0	1	0.900136	4	11	0	37	1	9.999953e-01	115	101	0	37	3
RASSF7	8045	broad.mit.edu	37	11	563280	563280	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:563280C>A	ENST00000397583.3	+	4	1347	c.914C>A	c.(913-915)cCg>cAg	p.P305Q	RASSF7_ENST00000344375.4_Missense_Mutation_p.P305Q|RASSF7_ENST00000431809.1_Missense_Mutation_p.P305Q|RASSF7_ENST00000397582.3_Missense_Mutation_p.P305Q|RASSF7_ENST00000454668.2_Missense_Mutation_p.P305Q	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	7	14	0	33	305	Pro-rich.				regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		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)		GCGCTGCCACCGCCCCCACGG	0.682000													1	0	1	1	0	1	0.987210	7	14	0	38	1	7.864299e-01	2	6	0	38	3
MUC5B	727897	broad.mit.edu	37	11	1265997	1265997	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:1265997G>A	ENST00000447027.1	+	31	7954	c.7896G>A	c.(7894-7896)acG>acA	p.T2632T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T2629T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	57	79	0	193	2629	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T2608T(1)|p.T2629T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		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)		CGGCACGCACGCTTCCAGTGT	0.637000													1	1	1	1	1	1	1.000000	62	84	0	214	0	0	0	0	0	214	5
OR51A7	119687	broad.mit.edu	37	11	4928979	4928979	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:4928979A>G	ENST00000359350.4	+	1	380	c.380A>G	c.(379-381)cAc>cGc	p.H127R	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	34	44	0	104	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		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)		CTTGCCATTCACAATCCCTTA	0.403000													1	1	1	1	1	1	1.000000	38	52	0	115	0	0	0	0	0	115	5
FAM160A2	84067	broad.mit.edu	37	11	6238902	6238902	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:6238902C>T	ENST00000265978.4	-	9	2314	c.1956G>A	c.(1954-1956)gtG>gtA	p.V652V	FAM160A2_ENST00000449352.2_Silent_p.V638V|FAM160A2_ENST00000524416.1_Silent_p.V638V	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	18	33	0	82	638					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGATCCTGGCACTCCATTGA	0.672000													1	1	1	1	0	1	0.999996	18	36	0	86	1	9.494306e-01	8	5	0	86	4
TRIM3	10612	broad.mit.edu	37	11	6478961	6478961	+	Silent	SNP	C	C	T	rs116462813	by1000genomes	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:6478961C>T	ENST00000525074.1	-	4	874	c.480G>A	c.(478-480)gcG>gcA	p.A160A	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000345851.3_Silent_p.A160A|TRIM3_ENST00000359518.3_Silent_p.A160A|TRIM3_ENST00000536344.1_Silent_p.A41A|TRIM3_ENST00000537602.1_Silent_p.A160A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	39	61	0	110	160					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		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)		GCTGCAGGGCCGCCTTGTGCT	0.687000													1	1	1	1	1	1	1.000000	42	68	0	114	0	0	1	0	0	114	5
TIMM10B	26515	broad.mit.edu	37	11	6503065	6503065	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:6503065G>T	ENST00000254616.6	+	2	188	c.118G>T	c.(118-120)Gct>Tct	p.A40S	TIMM10B_ENST00000530751.1_Intron|TIMM10B_ENST00000472836.1_Missense_Mutation_p.A40S	NM_012192.3	NP_036324.1			translocase of inner mitochondrial membrane 10 homolog B (yeast)	29	42	0	60																		GCACCACCGAGCTCTGGACGC	0.572000													1	1	1	1	1	1	1.000000	30	44	0	64	1	9.994014e-01	8	14	0	64	5
ST5	6764	broad.mit.edu	37	11	8720914	8720914	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:8720914G>A	ENST00000534127.1	-	18	3129	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	ST5_ENST00000530991.1_Missense_Mutation_p.A387V|ST5_ENST00000357665.1_Missense_Mutation_p.A915V|ST5_ENST00000526099.1_Missense_Mutation_p.A428V|ST5_ENST00000526757.1_Missense_Mutation_p.A495V|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534278.1_Missense_Mutation_p.A106V|ST5_ENST00000313726.6_Missense_Mutation_p.A915V|ST5_ENST00000530438.1_Missense_Mutation_p.A495V	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	30	23	0	54	915	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGCCACCACCGCGTGGGAGCA	0.617000													1	0	1	1	0	1	1.000000	30	24	0	55	1	9.925888e-01	2	8	0	55	3
IPO7	10527	broad.mit.edu	37	11	9452491	9452491	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:9452491G>A	ENST00000379719.3	+	16	1964	c.1822G>A	c.(1822-1824)Gct>Act	p.A608T	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	25	27	0	51	608					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGCAGTTACTGCTATGGGAAT	0.363000													1	1	1	1	1	1	1.000000	25	28	0	52	1	9.044354e-01	2	5	0	52	5
EIF4G2	1982	broad.mit.edu	37	11	10825100	10825100	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:10825100A>G	ENST00000526148.1	-	9	1250	c.740T>C	c.(739-741)aTg>aCg	p.M247T	EIF4G2_ENST00000396525.2_Missense_Mutation_p.M247T|EIF4G2_ENST00000525681.1_Missense_Mutation_p.M247T|EIF4G2_ENST00000339995.5_Missense_Mutation_p.M247T	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	29	51	0	71	247	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			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATCCTCTCCCATATCTTTGAG	0.423000													1	1	1	1	1	1	1.000000	31	61	0	80	1	1	47	43	0	80	5
HPS5	11234	broad.mit.edu	37	11	18301454	18301454	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:18301454C>T	ENST00000396253.3	-	22	3485	c.3023G>A	c.(3022-3024)cGg>cAg	p.R1008Q	HPS5_ENST00000349215.3_Missense_Mutation_p.R1122Q|HPS5_ENST00000438420.2_Missense_Mutation_p.R1008Q|HPS5_ENST00000537258.1_3'UTR	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	20	34	0	46	1122						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCAGAGAAACCGATCGCATTT	0.403000									Hermansky-Pudlak syndrome				1	1	1	1	1	1	1.000000	24	42	0	49	1	9.998113e-01	16	14	0	49	5
E2F8	79733	broad.mit.edu	37	11	19255993	19255993	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:19255993G>A	ENST00000527884.1	-	6	1074	c.842C>T	c.(841-843)aCg>aTg	p.T281M	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.T281M	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	82	105	1	147	281					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TATCTGAGGCGTTGACACCAA	0.403000													1	0	1	1	1	1	1.000000	87	116	1	157	0	0	0	1	1	157	4
LGR4	55366	broad.mit.edu	37	11	27406980	27406980	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:27406980T>C	ENST00000379214.4	-	5	880	c.437A>G	c.(436-438)gAg>gGg	p.E146G	LGR4_ENST00000480977.2_Missense_Mutation_p.E98G|LGR4_ENST00000389858.4_Missense_Mutation_p.E122G	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	22	28	0	63	146						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AAAACTGTCCTCGGGGACTGA	0.473000													1	1	1	1	1	1	1.000000	22	29	0	67	0	0	0	0	0	67	5
ARL14EP	120534	broad.mit.edu	37	11	30354531	30354531	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:30354531G>A	ENST00000282032.3	+	3	760	c.545G>A	c.(544-546)gGt>gAt	p.G182D		NM_152316.1	NP_689529.1			ADP-ribosylation factor-like 14 effector protein	26	33	0	52																		GCAACCGCTGGTTCAGACAGG	0.378000													1	1	1	1	1	1	1.000000	29	39	0	59	1	1	28	31	0	59	5
KIAA1549L	25758	broad.mit.edu	37	11	33581397	33581397	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:33581397C>T	ENST00000321505.4	+	6	3247	c.3067C>T	c.(3067-3069)Cag>Tag	p.Q1023*	KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.Q1029*|KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.Q1029*					KIAA1549-like	59	99	0	251																		CCTCCTCAGCCAGCTCTCGGC	0.597000													1	1	1	1	1	1	1.000000	64	108	0	263	0	0	0	0	0	263	5
EHF	26298	broad.mit.edu	37	11	34668216	34668216	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:34668216C>T	ENST00000257831.3	+	3	449	c.328C>T	c.(328-330)Cat>Tat	p.H110Y	EHF_ENST00000531728.1_Missense_Mutation_p.H110Y|EHF_ENST00000527935.1_Missense_Mutation_p.H110Y|EHF_ENST00000531794.1_Missense_Mutation_p.H132Y|EHF_ENST00000530286.1_Missense_Mutation_p.H110Y|EHF_ENST00000533754.1_Missense_Mutation_p.H110Y|EHF_ENST00000450654.2_Missense_Mutation_p.H110Y	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	97	140	0	220	110	PNT.				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		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			CAACTTGCAGCATCTGAAGTG	0.552000													1	1	1	1	1	1	1.000000	111	163	0	241	0	0	0	0	0	241	5
MAPK8IP1	9479	broad.mit.edu	37	11	45924624	45924624	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:45924624C>T	ENST00000395629.2	+	5	1606	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.R436W			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	18	32	0	50	436					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GGAGGCCCCGCGGCCCCAGCC	0.602000													1	1	1	1	1	1	1.000000	21	38	0	55	1	9.324240e-01	4	7	0	55	5
ATG13	9776	broad.mit.edu	37	11	46667538	46667538	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:46667538A>G	ENST00000434074.1	+	4	958	c.270_splice	c.e4+1	p.E90_splice	ATG13_ENST00000528494.1_Splice_Site_p.E90_splice|ATG13_ENST00000526508.1_Splice_Site_p.E90_splice|ATG13_ENST00000524625.1_Splice_Site_p.E90_splice|ATG13_ENST00000312040.4_Splice_Site_p.E90_splice|ATG13_ENST00000451945.1_Splice_Site_p.E90_splice|ATG13_ENST00000359513.4_Splice_Site_p.E90_splice|ATG13_ENST00000530500.1_Splice_Site_p.E11_splice|ATG13_ENST00000529655.1_Splice_Site_p.E90_splice	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	25	31	0	53	90					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						AAGACTTCTGAGGTAAGGCTA	0.502000													1	1	1	1	1	1	1.000000	27	38	0	54	1	6.853559e-01	5	0	0	54	5
ZNF408	79797	broad.mit.edu	37	11	46724534	46724534	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:46724534C>T	ENST00000311764.2	+	4	623	c.392_splice	c.e4-1	p.S131_splice		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	30	39	0	80	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCTTTGCAGCTTGGTACAAC	0.577000													1	1	1	1	1	1	1.000000	34	42	0	85	1	6.034026e-01	3	1	0	85	5
OR8H3	390152	broad.mit.edu	37	11	55890694	55890694	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:55890694T>C	ENST00000313472.3	+	1	846	c.846T>C	c.(844-846)atT>atC	p.I282I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	46	69	0	139	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTATTGTGATTCCCATGCTGA	0.368000													1	1	1	1	1	1	1.000000	53	76	0	152	0	0	0	0	0	152	5
MYRF	745	broad.mit.edu	37	11	61537778	61537778	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:61537778G>A	ENST00000278836.5	+	5	617	c.521G>A	c.(520-522)cGc>cAc	p.R174H	MYRF_ENST00000265460.5_Missense_Mutation_p.R165H|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor	9	10	0	11																		GTGCCCTCCCGCCTGGAGCAT	0.677000													0	1	1	1	0	1	0.997050	9	15	0	13	0	0	0	0	0	13	3
AHNAK	79026	broad.mit.edu	37	11	62297595	62297595	+	Missense_Mutation	SNP	C	C	T	rs139799392		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:62297595C>T	ENST00000378024.4	-	5	4568	c.4294G>A	c.(4294-4296)Gca>Aca	p.A1432T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	111	186	1	261	1432					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTAGTTTTGCGTCTGGACCT	0.433000													1	0	1	1	1	1	1.000000	121	196	1	287	0	3.274351e-01	0	3	1	287	4
FLRT1	23769	broad.mit.edu	37	11	63884829	63884829	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:63884829C>T	ENST00000246841.3	+	2	2133	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	43	53	0	74	336					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						TGAGAAGGTCCGGGGCATGGC	0.657000													1	0	1	1	1	1	1.000000	48	57	0	79	0	1	0	149	0	79	4
EHBP1L1	254102	broad.mit.edu	37	11	65351790	65351790	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:65351790C>T	ENST00000309295.4	+	10	3437	c.3172C>T	c.(3172-3174)Cgc>Tgc	p.R1058C		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	70	95	0	133	1058	CH.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCGTGGCGTCCGCATCACCAA	0.627000													1	1	1	1	1	1	1.000000	74	98	0	136	1	9.999824e-01	12	15	0	136	5
PCNXL3	399909	broad.mit.edu	37	11	65402797	65402797	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:65402797C>T	ENST00000355703.3	+	31	5601	c.5062C>T	c.(5062-5064)Cgc>Tgc	p.R1688C		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	12	7	0	30	1688						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCCAGCATGGCGCAGCGCCAT	0.612000													1	1	1	1	1	1	0.999955	13	8	0	30	1	9.999988e-01	15	17	0	30	5
B3GNT1	11041	broad.mit.edu	37	11	66114163	66114163	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:66114163C>A	ENST00000311181.4	-	1	1000	c.854G>T	c.(853-855)cGg>cTg	p.R285L		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	52	58	0	91	285					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						ATAGAAGGGCCGCACCTCGCC	0.632000													1	1	1	1	1	1	1.000000	55	63	0	95	1	1	41	28	0	95	5
PELI3	246330	broad.mit.edu	37	11	66241352	66241352	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:66241352T>C	ENST00000349459.6	+	6	1008	c.724T>C	c.(724-726)Tac>Cac	p.Y242H	PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000524466.1_Missense_Mutation_p.Y266H|PELI3_ENST00000320740.7_Missense_Mutation_p.Y266H	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	9	110	0	95	266						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						TGGGAATGTGTACACATTGCG	0.652000													1	1	1	1	0	1	0.999239	12	141	0	108	1	1.723629e-01	2	7	0	108	4
CTD-3074O7.11	0	broad.mit.edu	37	11	66298469	66298469	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:66298469G>A	ENST00000419755.3	+	15	1767	c.1689G>A	c.(1687-1689)gcG>gcA	p.A563A	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000455748.2_Silent_p.A429A|BBS1_ENST00000393994.2_Silent_p.A397A|BBS1_ENST00000318312.7_Silent_p.A526A						29	43	0	76																		ACAACGAGGCGCTCTATTCCC	0.587000													1	1	1	1	1	1	1.000000	32	45	0	81	0	5.525345e-01	1	2	0	81	5
PITPNM1	9600	broad.mit.edu	37	11	67261432	67261432	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:67261432G>A	ENST00000356404.3	-	20	3194	c.2969C>T	c.(2968-2970)gCg>gTg	p.A990V	PITPNM1_ENST00000534749.1_Missense_Mutation_p.A990V|PITPNM1_ENST00000436757.2_Missense_Mutation_p.A989V|PITPNM1_ENST00000526450.1_5'UTR	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	28	21	0	39	990					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			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AATGCCCAGCGCGCGTTCTGG	0.682000													1	1	1	1	0	1	1.000000	28	24	0	39	1	1	15	37	0	39	4
ALDH3B1	221	broad.mit.edu	37	11	67790205	67790205	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:67790205G>A	ENST00000539229.1	+	10	1202	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	ALDH3B1_ENST00000342456.6_Silent_p.L326L|ALDH3B1_ENST00000007633.8_Silent_p.L362L|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Intron	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	57	56	1	115	364					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	CCCTGGCCCTGTACGCCTTCT	0.677000													1	0	1	1	1	1	1.000000	68	66	1	130	0	2.592314e-01	1	1	1	130	4
CCND1	595	broad.mit.edu	37	11	69466022	69466022	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:69466022C>T	ENST00000227507.2	+	5	1087	c.860C>T	c.(859-861)cCc>cTc	p.P287L		NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	10	13	0	28	287					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	p.P287L(1)|p.P287H(1)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	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)	GCTTGCACACCCACCGACGTG	0.716000			T	IGH@, FSTL3	CLL, B-ALL, breast					Multiple Myeloma(6;0.086)			1	1	1	1	1	1	0.999791	12	13	0	31	1	6.475096e-01	2	2	0	31	5
RNF169	254225	broad.mit.edu	37	11	74547475	74547475	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:74547475C>G	ENST00000299563.4	+	6	1840	c.1827C>G	c.(1825-1827)agC>agG	p.S609R		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	35	65	0	117	609							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TAGTTGAGAGCCTAAGTGAAG	0.423000													1	1	1	1	1	1	1.000000	38	72	0	126	1	5.648478e-01	2	3	0	126	5
GRM5	2915	broad.mit.edu	37	11	88386450	88386450	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:88386450G>A	ENST00000418177.2	-	4	1400	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	GRM5_ENST00000305447.4_Missense_Mutation_p.R345W|GRM5_ENST00000393297.1_Missense_Mutation_p.R345W|GRM5_ENST00000305432.5_Missense_Mutation_p.R345W|GRM5_ENST00000455756.2_Missense_Mutation_p.R345W			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	46	47	0	105	345					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			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GTTTCTGGCCGGAGCTTCAGA	0.458000													1	1	1	1	1	1	1.000000	49	50	0	110	0	0	0	0	0	110	5
FAT3	120114	broad.mit.edu	37	11	92624210	92624210	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:92624210C>T	ENST00000298047.6	+	27	13718	c.13701C>T	c.(13699-13701)agC>agT	p.S4567S	FAT3_ENST00000533797.1_Silent_p.S870S|FAT3_ENST00000525166.1_Silent_p.S4417S|FAT3_ENST00000409404.2_Silent_p.S4535S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	8	14	0	43	4567					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTACGAGAGCGTGGGAGAGC	0.527000										TCGA Ovarian(4;0.039)			1	1	1	1	1	1	0.996951	9	17	0	43	0	0	0	0	0	43	5
ATM	472	broad.mit.edu	37	11	108165727	108165727	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:108165727T>G	ENST00000278616.4	+	32	5235	c.4850T>G	c.(4849-4851)cTt>cGt	p.L1617R	ATM_ENST00000452508.2_Missense_Mutation_p.L1617R	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	45	69	0	116	1617					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.E1612_Q1620>*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		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)		CTAAAGGATCTTCGAAGACAA	0.358000			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	1	1	1	1	1	1.000000	49	72	0	126	0	0	0	0	0	126	5
C11orf65	160140	broad.mit.edu	37	11	108332220	108332220	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:108332220A>G	ENST00000525729.1	-	2	136	c.67T>C	c.(67-69)Tgg>Cgg	p.W23R	C11orf65_ENST00000529391.1_Missense_Mutation_p.W23R|C11orf65_ENST00000393084.1_Missense_Mutation_p.W23R			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	63	83	0	117	23										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		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)		AAACTTTTCCAGGCCTGCTGA	0.308000													1	1	1	1	1	1	1.000000	70	96	0	135	0	0	0	0	0	135	5
APOA5	0	broad.mit.edu	37	11	116661100	116661100	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:116661100C>T	ENST00000542499.1	-	4	917	c.845G>A	c.(844-846)cGc>cAc	p.R282H	APOA5_ENST00000227665.4_Missense_Mutation_p.R282H	NM_001166598.1|NM_052968.4	NP_001160070.1|NP_443200.2	Q6Q788	APOA5_HUMAN	apolipoprotein A-V	50	75	0	117	282					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			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	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)		AAGTCGCTGGCGCACCTCCTC	0.652000													1	1	1	1	1	1	1.000000	56	84	0	134	0	0	0	0	0	134	5
TMPRSS13	84000	broad.mit.edu	37	11	117779388	117779388	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:117779388G>A	ENST00000528626.1	-	8	1189	c.1116C>T	c.(1114-1116)acC>acT	p.T372T	TMPRSS13_ENST00000445164.2_Silent_p.T407T|TMPRSS13_ENST00000526090.1_Silent_p.T407T|TMPRSS13_ENST00000430170.2_Silent_p.T407T|TMPRSS13_ENST00000524993.1_Silent_p.T407T	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	11	5	0	22	402	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	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)		CCTCCTCATCGGTGTAATTGC	0.617000													1	1	1	1	1	1	0.999970	13	6	0	24	0	0	0	0	0	24	5
NLRX1	79671	broad.mit.edu	37	11	119044561	119044561	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:119044561C>T	ENST00000409109.1	+	5	1190	c.603C>T	c.(601-603)gaC>gaT	p.D201D	NLRX1_ENST00000409265.4_Silent_p.D201D|NLRX1_ENST00000525863.1_Silent_p.D201D|NLRX1_ENST00000409991.1_Silent_p.D201D|NLRX1_ENST00000292199.2_Silent_p.D201D			Q86UT6	NLRX1_HUMAN	NLR family member X1	26	45	0	89	201	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	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)		CCTGTGAGGACCTGTCATCCC	0.647000													1	1	1	1	1	1	1.000000	29	51	0	99	0	0	0	0	0	99	5
OAF	220323	broad.mit.edu	37	11	120097673	120097673	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:120097673G>A	ENST00000328965.4	+	3	1028	c.515G>A	c.(514-516)cGc>cAc	p.R172H	OAF_ENST00000531220.1_Missense_Mutation_p.R56H	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	27	24	0	58	172										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		ATCTACACCCGCCAGGAGGAT	0.647000													1	1	1	1	1	1	1.000000	30	35	0	65	0	9.999792e-01	0	27	0	65	5
EI24	9538	broad.mit.edu	37	11	125453541	125453541	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:125453541C>T	ENST00000278903.6	+	12	1225	c.983C>T	c.(982-984)cCg>cTg	p.P328L	EI24_ENST00000343678.4_3'UTR|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	14	9	0	38	329					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	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)		TCACCGCATCCGTCGCCTGCC	0.547000													1	1	1	1	1	1	0.999996	16	10	0	39	1	1	52	52	0	39	5
ARHGAP32	9743	broad.mit.edu	37	11	128843210	128843210	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:128843210G>A	ENST00000310343.9	-	21	3148	c.3149C>T	c.(3148-3150)tCc>tTc	p.S1050F	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S701F|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S701F	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	79	114	0	258	1050					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			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTGCTGTGCGGACTCAGCTAA	0.512000													1	1	1	1	1	1	1.000000	87	123	0	272	0	0	1	0	0	272	5
OPCML	4978	broad.mit.edu	37	11	132306088	132306088	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:132306088G>A	ENST00000331898.7	-	6	1407	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.R277C|OPCML_ENST00000374778.4_Missense_Mutation_p.R236C|OPCML_ENST00000524381.1_Missense_Mutation_p.R270C	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	29	62	0	148	277	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	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)		GTGGACATGCGGCCTTTGTTT	0.463000													1	1	1	1	1	1	1.000000	32	68	0	160	0	0	0	0	0	160	5
WNT5B	81029	broad.mit.edu	37	12	1748922	1748922	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:1748922G>A	ENST00000397196.2	+	4	633	c.401G>A	c.(400-402)cGc>cAc	p.R134H	WNT5B_ENST00000310594.3_Missense_Mutation_p.R134H|WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000537031.1_Missense_Mutation_p.R134H	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	4	15	0	26	134				R -> S (in Ref. 1; AAG38659).	angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CGGGCCTGCCGCGAGGGCGAG	0.731000													0	0	1	0	0	1	0.946554	5	15	0	26	1	7.029885e-01	3	6	0	26	1
TSPAN9	10867	broad.mit.edu	37	12	3392257	3392257	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:3392257G>A	ENST00000011898.5	+	9	856	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	TSPAN9_ENST00000537971.1_Missense_Mutation_p.R232Q	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	4	106	0	130	232						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CACATCCACCGGACTGGTAAG	0.637000													1	0	1	1	0	1	0.966108	6	125	0	149	0	2.835112e-01	0	20	0	149	3
CHD4	1108	broad.mit.edu	37	12	6703716	6703716	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:6703716C>T	ENST00000309577.6	-	15	2385	c.2222G>A	c.(2221-2223)tGg>tAg	p.W741*	CHD4_ENST00000544484.1_Nonsense_Mutation_p.W738*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.W734*|CHD4_ENST00000357008.2_Nonsense_Mutation_p.W741*			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	43	56	0	88	741	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						GCCCTGAGCCCAGGAGAAGCG	0.522000													1	1	1	1	1	1	1.000000	47	61	0	93	1	8.120757e-01	3	3	0	93	5
LPCAT3	10162	broad.mit.edu	37	12	7090985	7090985	+	Silent	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:7090985A>T	ENST00000261407.4	-	4	532	c.447T>A	c.(445-447)acT>acA	p.T149T	U47924.19_ENST00000564245.1_RNA	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	5	81	0	69	149					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TCAGCTTCAAAGTCAGAACAC	0.522000													1	1	1	1	0	1	0.966575	6	90	0	77	0	1.374205e-01	0	9	0	77	4
CLSTN3	9746	broad.mit.edu	37	12	7301617	7301617	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:7301617G>A	ENST00000537408.1	+	12	2471	c.1933G>A	c.(1933-1935)Gtg>Atg	p.V645M	CLSTN3_ENST00000266546.6_Missense_Mutation_p.V633M			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	19	34	0	63	633					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGAGGGCTACGTGGTCGTCCT	0.587000													1	1	1	1	1	1	1.000000	22	39	0	67	1	9.866967e-01	3	13	0	67	5
LRP6	4040	broad.mit.edu	37	12	12334194	12334194	+	Missense_Mutation	SNP	G	G	A	rs148238873		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:12334194G>A	ENST00000261349.4	-	6	1232	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	LRP6_ENST00000543091.1_Missense_Mutation_p.R386C	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	65	94	0	152	386	Beta-propeller 2.				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			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATAAATGAACGGCGTATGGCC	0.463000													1	1	1	1	1	1	1.000000	68	107	0	165	0	0	0	0	0	165	5
GPRC5A	0	broad.mit.edu	37	12	13061187	13061187	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:13061187G>A	ENST00000014914.5	+	2	894	c.4G>A	c.(4-6)Gct>Act	p.A2T	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	23	25	0	58	2						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GTCCAGAATGGCTACAACAGT	0.473000													1	1	1	1	1	1	1.000000	26	28	0	63	0	2.368421e-01	0	2	0	63	5
PIK3C2G	5288	broad.mit.edu	37	12	18499635	18499635	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:18499635A>G	ENST00000433979.1	+	11	1606	c.1490A>G	c.(1489-1491)tAc>tGc	p.Y497C	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.Y497C|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Y497C|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Y497C	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	21	46	0	97	497					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			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATCAATGTCTACTGTAACAGC	0.423000													1	1	1	1	1	1	1.000000	28	52	0	108	0	0	0	0	0	108	5
SLCO1C1	53919	broad.mit.edu	37	12	20864412	20864412	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:20864412T>C	ENST00000381552.1	+	5	865	c.497T>C	c.(496-498)gTt>gCt	p.V166A	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.V166A|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.V48A|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.V166A|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.V166A			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	24	40	0	82	166					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCAGTTTCAGTTATGGAAAAA	0.343000													1	1	1	1	1	1	1.000000	27	43	0	86	0	0	0	0	0	86	5
PUS7L	83448	broad.mit.edu	37	12	44139886	44139886	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:44139886A>G	ENST00000416848.2	-	4	1714	c.1226T>C	c.(1225-1227)cTg>cCg	p.L409P	PUS7L_ENST00000431332.3_Missense_Mutation_p.L96P|PUS7L_ENST00000551923.1_Missense_Mutation_p.L409P|PUS7L_ENST00000344862.5_Missense_Mutation_p.L409P	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	6	13	0	24	409					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCTCTCCCTCAGGTTTGCAGA	0.338000													1	1	1	1	1	1	0.973097	6	15	0	27	0	2.313043e-01	1	2	0	27	5
DDN	23109	broad.mit.edu	37	12	49392006	49392006	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49392006C>T	ENST00000421952.2	-	2	674	c.653G>A	c.(652-654)cGa>cAa	p.R218Q		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	27	40	0	50	218	Interaction with MAGI2.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CCAGCGGCGTCGTGGGGCGGT	0.716000													1	1	1	1	0	1	1.000000	28	48	0	55	1	3.141431e-01	3	0	0	55	4
KMT2D	8085	broad.mit.edu	37	12	49421827	49421827	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49421827C>T	ENST00000301067.7	-	46	14479	c.14480G>A	c.(14479-14481)gGc>gAc	p.G4827D		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	21	27	0	69																		TGGCTCAGTGCCTGCCCGGGC	0.607000													1	1	1	1	1	1	1.000000	21	31	0	74	1	5.341688e-01	3	1	0	74	5
SCN8A	6334	broad.mit.edu	37	12	52200125	52200125	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:52200125A>G	ENST00000354534.5	+	27	5033	c.4855A>G	c.(4855-4857)Atc>Gtc	p.I1619V	SCN8A_ENST00000545061.1_Missense_Mutation_p.I1578V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	88	116	0	228	1619					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATTCCGAGTCATCCGATTGGC	0.458000													1	1	1	1	1	1	1.000000	101	135	0	259	0	0	0	0	0	259	5
NR4A1	0	broad.mit.edu	37	12	52451181	52451181	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:52451181G>A	ENST00000545748.1	+	7	2564	c.1569G>A	c.(1567-1569)gtG>gtA	p.V523V	NR4A1_ENST00000550082.1_Silent_p.V482V|NR4A1_ENST00000360284.3_Silent_p.V482V|NR4A1_ENST00000394824.2_Silent_p.V469V|NR4A1_ENST00000394825.1_Silent_p.V469V|NR4A1_ENST00000243050.1_Silent_p.V469V			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	30	49	0	94	469					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			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CAGGCCTGGTGCTACACCGGC	0.602000													1	1	1	1	1	1	1.000000	36	57	0	105	1	9.999807e-01	13	20	0	105	5
KRT76	51350	broad.mit.edu	37	12	53162616	53162616	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:53162616A>T	ENST00000332411.2	-	9	1851	c.1798T>A	c.(1798-1800)Tcc>Acc	p.S600T		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	25	47	0	103	600	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAGAGCTGGAGCCCATTCCA	0.622000													1	1	1	1	1	1	1.000000	27	55	0	107	0	0	0	0	0	107	5
KRT4	3851	broad.mit.edu	37	12	53202570	53202570	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:53202570C>T	ENST00000293774.4	-	5	1391	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	KRT4_ENST00000458244.2_Missense_Mutation_p.R280H|KRT4_ENST00000551956.1_Missense_Mutation_p.R300H			B4DRS2	B4DRS2_HUMAN	keratin 4	31	47	0	109	300						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GTCCAGGTTGCGGTTGTTGTC	0.592000													1	1	1	1	1	1	1.000000	32	49	0	116	0	0	0	0	0	116	5
TSPAN31	0	broad.mit.edu	37	12	58139606	58139606	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:58139606G>A	ENST00000547992.1	+	2	274	c.142G>A	c.(142-144)Gga>Aga	p.G48R	TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000257910.3_Missense_Mutation_p.G48R			Q12999	TSN31_HUMAN	tetraspanin 31	33	95	0	89	48					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	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)			CATCATCGGCGGAGTCATTGC	0.552000													1	1	1	1	1	1	1.000000	37	108	0	96	1	9.993695e-01	10	26	0	96	5
TRHDE	29953	broad.mit.edu	37	12	72666576	72666576	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:72666576C>T	ENST00000261180.4	+	1	114	c.18C>T	c.(16-18)gcC>gcT	p.A6A	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	11	10	0	15	6					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAGACGACGCCGCGCTTCGGG	0.662000													0	1	1	1	0	1	0.999809	12	12	0	16	0	0	0	0	0	16	3
MYF6	4618	broad.mit.edu	37	12	81102659	81102659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:81102659C>T	ENST00000228641.3	+	3	871	c.649C>T	c.(649-651)Cga>Tga	p.R217*		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	58	51	0	128	217					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GAGTAGCCTTCGATGCCTTTC	0.527000													1	1	1	1	1	1	1.000000	64	57	0	131	0	0	0	0	0	131	5
ANKS1B	56899	broad.mit.edu	37	12	99145154	99145154	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:99145154G>A	ENST00000547776.2	-	25	3650	c.3651C>T	c.(3649-3651)cgC>cgT	p.R1217R	ANKS1B_ENST00000549493.2_Silent_p.R467R|ANKS1B_ENST00000333732.7_Silent_p.R247R|ANKS1B_ENST00000341752.7_Silent_p.R223R|ANKS1B_ENST00000329257.7_Silent_p.R1217R|ANKS1B_ENST00000549558.2_Silent_p.R383R|ANKS1B_ENST00000547446.1_Silent_p.R352R|ANKS1B_ENST00000550693.2_Silent_p.R407R|ANKS1B_ENST00000546960.1_Silent_p.R443R|ANKS1B_ENST00000547010.1_Silent_p.R733R|ANKS1B_ENST00000549025.2_Silent_p.R315R|ANKS1B_ENST00000332712.7_Silent_p.R407R|ANKS1B_ENST00000546568.1_Silent_p.R383R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	18	32	0	66	1217						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		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)		GAATGCTAACGCGGGGCTTGG	0.498000													1	1	1	1	1	1	0.999996	18	33	0	68	0	0	0	0	0	68	5
SCYL2	55681	broad.mit.edu	37	12	100709497	100709497	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:100709497G>A	ENST00000360820.2	+	9	1694	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	17	20	0	45	419					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			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TGTTTAAGCAGCAGGAGCCAA	0.338000													0	0	1	1	1	1	0.999996	17	20	0	45	0	0	0	0	0	45	3
ANO4	121601	broad.mit.edu	37	12	101437381	101437381	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:101437381A>G	ENST00000392979.3	+	12	1475	c.1114A>G	c.(1114-1116)Atg>Gtg	p.M372V	ANO4_ENST00000392977.3_Missense_Mutation_p.M407V|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	22	43	0	67	407						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTGTCCATTCATGAGGCTGTC	0.393000										HNSCC(74;0.22)			1	1	1	1	1	1	1.000000	23	55	0	71	0	0	0	0	0	71	5
UTP20	27340	broad.mit.edu	37	12	101768587	101768587	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:101768587G>A	ENST00000261637.4	+	55	7307	c.7131_splice	c.e55-1	p.R2378_splice		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	44	99	1	154	2378					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			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTTTGGTAGCGCTTAAATAGA	0.398000													1	0	1	1	1	1	1.000000	50	113	1	171	1	8.566716e-01	5	5	1	171	4
NUP37	79023	broad.mit.edu	37	12	102468812	102468812	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:102468812G>A	ENST00000552283.1	-	9	973	c.834C>T	c.(832-834)agC>agT	p.S278S	NUP37_ENST00000251074.1_Silent_p.S278S			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	22	24	0	52	278					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			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TTTGAAACTGGCTTGCCATTT	0.343000													1	1	1	1	1	1	1.000000	24	31	0	60	1	1	63	83	0	60	5
SLC41A2	84102	broad.mit.edu	37	12	105282851	105282851	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:105282851A>G	ENST00000258538.3	-	4	967	c.840T>C	c.(838-840)tcT>tcC	p.S280S		NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	45	56	0	114	280						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						CCACACTGCTAGAGCACAGAA	0.388000													1	1	1	1	1	1	1.000000	47	59	0	127	0	0	1	0	0	127	5
HECTD4	283450	broad.mit.edu	37	12	112621993	112621993	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:112621993C>T	ENST00000550722.1	-	61	10734	c.10339G>A	c.(10339-10341)Gag>Aag	p.E3447K	HECTD4_ENST00000430131.2_Missense_Mutation_p.E3171K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E3421K	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4	121	165	0	238																		GCTGTTACCTCCACGACTGCG	0.527000													1	1	1	1	1	1	1.000000	153	209	0	274	0	0	1	0	0	274	5
RFC5	5985	broad.mit.edu	37	12	118463610	118463610	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:118463610C>T	ENST00000392542.2	+	8	1110	c.577C>T	c.(577-579)Cgt>Tgt	p.R193C	RFC5_ENST00000229043.3_Missense_Mutation_p.R129C|RFC5_ENST00000454402.2_Missense_Mutation_p.R214C	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	38	55	0	77	214					cell cycle checkpoint|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	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGAGACATGCGTAGGGCTCT	0.423000													1	1	1	1	1	1	1.000000	42	61	0	86	1	9.995365e-01	10	12	0	86	5
SRRM4	84530	broad.mit.edu	37	12	119592107	119592107	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:119592107G>A	ENST00000267260.4	+	12	1839	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	8	20	0	34	484	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAGCGAGCGCGTCGGAGACGT	0.682000													1	0	1	1	0	1	0.992918	8	21	0	36	0	0	0	0	0	36	3
CIT	11113	broad.mit.edu	37	12	120190012	120190012	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:120190012C>T	ENST00000392521.2	-	23	2802	c.2747G>A	c.(2746-2748)cGc>cAc	p.R916H	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R874H	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	19	17	0	49	874					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGTGAGCTGGCGCTTGAGCTC	0.582000													1	1	1	1	1	1	1.000000	22	18	0	51	0	0	1	0	0	51	5
COX6A1	1337	broad.mit.edu	37	12	120878307	120878307	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:120878307G>A	ENST00000229379.2	+	3	334	c.297G>A	c.(295-297)gtG>gtA	p.V99V	AL021546.6_ENST00000551806.1_Intron	NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	19	23	0	37	99					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCCTCATGTGAATCCACTTC	0.458000													0	1	1	1	1	1	0.999999	20	30	0	35	0	6.600548e-01	0	5	0	35	4
ATP6V0A2	23545	broad.mit.edu	37	12	124228411	124228411	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:124228411A>G	ENST00000330342.3	+	10	1366	c.1118A>G	c.(1117-1119)aAc>aGc	p.N373S		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	14	160	0	158	373					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			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	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)		ATCCGCACCAACAAATTCACC	0.453000													1	1	1	1	0	1	0.999986	18	174	0	164	0	0	0	0	0	164	4
DNAH10	196385	broad.mit.edu	37	12	124418011	124418011	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:124418011T>C	ENST00000409039.3	+	76	13101	c.13076T>C	c.(13075-13077)gTg>gCg	p.V4359A	DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	53	52	0	125	4359					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	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)		TTCACACAAGTGACCAAGTTC	0.592000													1	1	1	1	1	1	1.000000	60	55	0	141	0	0	1	0	0	141	5
UBC	7316	broad.mit.edu	37	12	125397363	125397363	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:125397363G>A	ENST00000536769.1	-	1	2531	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	UBC_ENST00000546120.1_Missense_Mutation_p.L243F|UBC_ENST00000339647.5_Missense_Mutation_p.L319F|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	70	189	0	310	319	Ubiquitin-like 5.				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			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	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)		TCCACTTCGAGAGTGATGGTC	0.517000													1	0	1	1	0	1	1.000000	71	184	0	213	0	0	0	0	0	213	3
RIMBP2	23504	broad.mit.edu	37	12	130926863	130926863	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:130926863G>A	ENST00000261655.4	-	8	1146	c.983C>T	c.(982-984)aCg>aTg	p.T328M	RIMBP2_ENST00000536002.1_Missense_Mutation_p.T236M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.T236M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	54	67	0	159	328	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	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)		GCTGCTCACCGTTCCCCATCC	0.562000													1	1	1	1	1	1	1.000000	58	74	0	164	0	0	0	0	0	164	5
SACS	26278	broad.mit.edu	37	13	23914022	23914022	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:23914022A>G	ENST00000382298.3	-	10	4581	c.3993T>C	c.(3991-3993)caT>caC	p.H1331H	SACS_ENST00000382292.3_Silent_p.H1331H|SACS_ENST00000402364.1_Silent_p.H581H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	18	19	0	43	1331					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			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		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)		CCATGGAAATATGATCTGATG	0.338000													1	1	1	1	1	1	0.999999	19	20	0	48	0	0	0	0	0	48	5
SACS	26278	broad.mit.edu	37	13	23915781	23915781	+	Missense_Mutation	SNP	C	C	T	rs143677534	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:23915781C>T	ENST00000382298.3	-	10	2822	c.2234G>A	c.(2233-2235)cGt>cAt	p.R745H	SACS_ENST00000382292.3_Missense_Mutation_p.R745H|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	20	30	0	48	745				RPCTQLQLLNPERFARLIKEV -> FLFDEDSNGKLKMVAV LITSC (in Ref. 4; BAC03486).	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			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		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)		CTTGATAAGACGTGCAAATCG	0.368000													1	1	1	1	1	1	1.000000	24	37	0	55	0	3.497024e-01	1	2	0	55	5
SPATA13	221178	broad.mit.edu	37	13	24860369	24860369	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:24860369C>T	ENST00000424834.2	+	8	2792	c.2319C>T	c.(2317-2319)aaC>aaT	p.N773N	SPATA13_ENST00000343003.6_Silent_p.N92N|SPATA13_ENST00000409126.1_Silent_p.N70N|SPATA13_ENST00000382108.3_Silent_p.N773N|SPATA13_ENST00000399949.2_Silent_p.N70N|SPATA13_ENST00000382095.4_Silent_p.N148N			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	57	81	0	175	148					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			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		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)		GTGATGGCAACGTGGTCTGCG	0.587000													1	1	1	1	1	1	1.000000	61	91	0	197	0	0	0	0	0	197	5
ATP8A2	51761	broad.mit.edu	37	13	26116151	26116151	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:26116151A>G	ENST00000381655.2	+	9	888	c.746A>G	c.(745-747)gAc>gGc	p.D249G	ATP8A2_ENST00000255283.8_Missense_Mutation_p.D209G	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	28	33	0	65	209					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			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		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)		CACCTCTATGACTTCACTGGA	0.393000													1	1	1	1	1	1	1.000000	29	34	0	70	0	0	0	0	0	70	5
RXFP2	122042	broad.mit.edu	37	13	32351561	32351561	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:32351561G>A	ENST00000298386.2	+	8	761	c.690G>A	c.(688-690)acG>acA	p.T230T	RXFP2_ENST00000380314.1_Silent_p.T230T	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	6	13	0	19	230						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		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)		GCTTGTTTACGGGATTAAATT	0.318000													1	1	1	1	1	1	0.986905	7	15	0	21	0	0	0	0	0	21	5
NBEA	26960	broad.mit.edu	37	13	35624439	35624439	+	Silent	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:35624439T>A	ENST00000540320.1	+	6	1413	c.879T>A	c.(877-879)gcT>gcA	p.A293A	NBEA_ENST00000400445.3_Silent_p.A293A|NBEA_ENST00000379939.2_Silent_p.A293A|NBEA_ENST00000310336.4_Silent_p.A293A			Q8NFP9	NBEA_HUMAN	neurobeachin	8	8	0	32	293						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		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)		GTTACTCTGCTCATTTTGTTG	0.353000													1	1	1	1	1	1	0.994961	8	10	0	38	0	0	0	0	0	38	5
TSC22D1	8848	broad.mit.edu	37	13	45148705	45148705	+	Silent	SNP	T	T	C	rs112613609		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:45148705T>C	ENST00000458659.2	-	1	1996	c.1506A>G	c.(1504-1506)caA>caG	p.Q502Q	TSC22D1_ENST00000501704.2_Silent_p.Q502Q	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	50	93	0	162	502	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		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)		gttgttgttgttgctgctgct	0.512000													1	1	0	1	1	1	1.000000	52	93	0	164	0	0	0	1	0	164	4
DHRS12	79758	broad.mit.edu	37	13	52365373	52365373	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:52365373C>A	ENST00000218981.1	-	3	258	c.147G>T	c.(145-147)gtG>gtT	p.V49V	DHRS12_ENST00000490949.1_5'UTR|DHRS12_ENST00000444610.2_Silent_p.V98V|DHRS12_ENST00000280056.2_Silent_p.V49V	NM_024705.2	NP_078981.1	A0PJE2	DHR12_HUMAN	dehydrogenase/reductase (SDR family) member 12	8	22	0	30	98							binding|oxidoreductase activity			cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	7		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)		CAGACAAGTCCACAATGTGCA	0.299000													1	1	1	1	1	1	0.996475	9	23	0	30	1	2.156863e-01	2	1	0	30	5
CCDC70	83446	broad.mit.edu	37	13	52439515	52439515	+	Translation_Start_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:52439515A>G	ENST00000242819.4	+	2	297	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	31	21	0	50	1						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		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)		GTCATCCCTCATGGCCACCCC	0.597000													1	0	1	1	0	1	1.000000	32	22	1	50	0	0	0	0	1	50	3
NEK5	341676	broad.mit.edu	37	13	52676360	52676360	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:52676360C>T	ENST00000355568.4	-	10	817	c.678G>A	c.(676-678)ccG>ccA	p.P226P		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	112	151	1	276	226	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		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)		GAGAAAACCCCGGAGATATTG	0.423000													1	1	1	1	1	1	1.000000	131	181	1	313	0	0	0	0	1	313	5
COL4A2	1284	broad.mit.edu	37	13	111117897	111117897	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:111117897C>A	ENST00000360467.5	+	25	2228	c.1922C>A	c.(1921-1923)cCt>cAt	p.P641H		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	35	32	0	45	641	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	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)			GCCGGCTTACCTGGACCACCA	0.597000													1	1	1	1	1	1	1.000000	38	36	0	48	0	8.205655e-01	0	5	0	48	5
MCF2L	23263	broad.mit.edu	37	13	113729502	113729502	+	Splice_Site	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:113729502C>T	ENST00000397030.1	+	11	1443	c.1407_splice	c.e11+1	p.T469_splice	MCF2L_ENST00000434480.2_Splice_Site_p.T442_splice|MCF2L_ENST00000375597.4_Splice_Site_p.T434_splice|MCF2L_ENST00000375608.3_Splice_Site_p.T466_splice|MCF2L_ENST00000423482.2_Splice_Site_p.T434_splice|MCF2L_ENST00000535094.2_Splice_Site_p.T436_splice|MCF2L_ENST00000375604.2_Splice_Site_p.T493_splice|MCF2L_ENST00000375601.3_Splice_Site_p.T440_splice|MCF2L_ENST00000442652.2_Splice_Site_p.T466_splice|MCF2L_ENST00000421756.1_Splice_Site_p.T440_splice			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	11	14	0	36	466					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			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	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)				CGCCTGGAGACGGTAGGCCGA	0.687000													1	1	1	1	1	1	0.999759	12	15	0	36	0	0	1	0	0	36	5
OR4K13	390433	broad.mit.edu	37	14	20502395	20502395	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:20502395C>A	ENST00000315693.2	-	1	524	c.523G>T	c.(523-525)Gac>Tac	p.D175Y		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	38	58	0	199	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAAAAGCTGTCTATAACATTG	0.473000													1	1	1	1	1	1	1.000000	41	60	0	206	0	0	0	0	0	206	5
MYH7	4625	broad.mit.edu	37	14	23887559	23887559	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:23887559C>T	ENST00000355349.3	-	30	4191	c.4029G>A	c.(4027-4029)ctG>ctA	p.L1343L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	40	60	0	92	1343					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			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACTGCTCCCGCAGCAGGTCGC	0.657000													1	1	1	1	1	1	1.000000	42	63	0	94	0	0	0	0	0	94	5
AP1G2	8906	broad.mit.edu	37	14	24033540	24033540	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:24033540A>G	ENST00000308724.5	-	9	1733		c.e9+1		AP1G2_ENST00000397120.3_Splice_Site|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	30	42	0	94						interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGGGACTATTACCTAATGTTC	0.512000													1	1	1	1	1	1	1.000000	36	51	0	102	0	0	1	0	0	102	5
RABGGTA	5875	broad.mit.edu	37	14	24734837	24734837	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:24734837C>T	ENST00000399409.3	-	16	2171	c.1688G>A	c.(1687-1689)aGc>aAc	p.S563N	RABGGTA_ENST00000560777.1_Missense_Mutation_p.S172N|RABGGTA_ENST00000216840.6_Missense_Mutation_p.S563N	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	26	19	0	37	563					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GAGGACGCTGCTAACTGAAGG	0.582000													1	1	1	1	1	1	1.000000	31	19	0	44	1	1	50	43	0	44	5
NYNRIN	57523	broad.mit.edu	37	14	24884026	24884026	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:24884026C>T	ENST00000382554.3	+	9	3389	c.3071C>T	c.(3070-3072)gCg>gTg	p.A1024V		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	28	30	0	76	1024					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCTTCGCTGGCGTCAGTGTTC	0.627000													1	1	1	1	1	1	1.000000	28	32	0	80	0	0	0	0	0	80	5
FOXG1	2290	broad.mit.edu	37	14	29237048	29237048	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:29237048C>T	ENST00000382535.3	+	2	932	c.563C>T	c.(562-564)gCg>gTg	p.A188V	FOXG1_ENST00000313071.4_Missense_Mutation_p.A188V			P55316	FOXG1_HUMAN	forkhead box G1	16	29	0	67	188					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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGCTACAACGCGCTCATCATG	0.612000													1	1	1	1	0	1	0.999996	18	33	0	75	1	1.327743e-01	2	0	0	75	4
RTN1	6252	broad.mit.edu	37	14	60194232	60194232	+	Silent	SNP	G	G	A	rs147679653		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:60194232G>A	ENST00000267484.5	-	3	1505	c.1170C>T	c.(1168-1170)tcC>tcT	p.S390S		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	6	10	0	17	390					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTGGCGGTCCGGACCTGGCCT	0.672000													0	1	0	1	1	1	0.988776	7	10	0	17	0	1.894737e-01	0	2	0	17	3
HIF1A	3091	broad.mit.edu	37	14	62207260	62207260	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:62207260G>T	ENST00000394997.1	+	11	1842	c.1577G>T	c.(1576-1578)aGt>aTt	p.S526I	HIF1A_ENST00000557538.1_Missense_Mutation_p.S466I|HIF1A_ENST00000337138.4_Missense_Mutation_p.S525I|HIF1A_ENST00000323441.6_Missense_Mutation_p.S525I|HIF1A_ENST00000539097.1_Missense_Mutation_p.S549I|HIF1A-AS2_ENST00000554254.1_lincRNA|RP11-618G20.1_ENST00000555937.1_RNA			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	28	31	0	71	525	ODD.				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			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TATGTGGATAGTGATATGGTC	0.328000													1	1	1	1	1	1	1.000000	29	33	0	78	1	9.992921e-01	10	8	0	78	5
ZFYVE26	23503	broad.mit.edu	37	14	68215288	68215288	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:68215288T>C	ENST00000347230.4	-	42	7623	c.7485A>G	c.(7483-7485)tcA>tcG	p.S2495S		NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	36	54	0	93	2495					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGTGGCCCGTGAGTGTTCTT	0.562000													1	1	1	1	1	1	1.000000	40	62	0	107	1	9.863887e-01	9	5	0	107	5
SLC39A9	55334	broad.mit.edu	37	14	69925096	69925096	+	Missense_Mutation	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:69925096T>A	ENST00000031146.4	+	6	1190	c.512T>A	c.(511-513)cTt>cAt	p.L171H	SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000336643.5_Missense_Mutation_p.L237H|SLC39A9_ENST00000556605.1_Intron|SLC39A9_ENST00000557046.1_Missense_Mutation_p.L214H			Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	90	87	0	202	237					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AAAGAAGCCCTTTCAGAGGTG	0.468000													1	1	1	1	1	1	1.000000	105	97	0	228	0	8.330391e-01	1	3	0	228	5
SRSF5	6430	broad.mit.edu	37	14	70235387	70235387	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:70235387G>A	ENST00000553521.1	+	4	1646	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	SRSF5_ENST00000394366.2_Missense_Mutation_p.E65K|SRSF5_ENST00000554021.1_Missense_Mutation_p.E65K|SRSF5_ENST00000553635.1_Missense_Mutation_p.E62K|SRSF5_ENST00000557154.1_Missense_Mutation_p.E65K|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000555349.1_Missense_Mutation_p.E65K|SRSF5_ENST00000553548.1_Missense_Mutation_p.E65K|SRSF5_ENST00000451983.2_Missense_Mutation_p.E65K			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	62	82	0	130	65	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding			large_intestine(1)|liver(1)	2						ACTCTGTAGTGAAAGGTGAGA	0.398000													1	1	1	1	1	1	1.000000	65	95	0	143	1	1	134	173	0	143	5
PSEN1	5663	broad.mit.edu	37	14	73637521	73637521	+	Missense_Mutation	SNP	G	G	A	rs63750592		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:73637521G>A	ENST00000324501.5	+	4	376	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	PSEN1_ENST00000261970.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000394157.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000394164.1_Missense_Mutation_p.R31Q|PSEN1_ENST00000344094.3_Missense_Mutation_p.R35Q|PSEN1_ENST00000553447.2_3'UTR|PSEN1_ENST00000357710.4_Missense_Mutation_p.R31Q|PSEN1_ENST00000406768.1_5'UTR|PSEN1_ENST00000557511.1_Missense_Mutation_p.R35Q	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	8	25	0	48	35					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)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		AATAGAGAACGGCAGGAGCAC	0.478000													1	1	1	1	0	1	0.996183	9	27	0	55	0	0	0	0	0	55	4
RPS6KL1	83694	broad.mit.edu	37	14	75388084	75388084	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:75388084G>A	ENST00000555647.1	-	3	448	c.161C>T	c.(160-162)gCc>gTc	p.A54V	RPS6KL1_ENST00000358328.4_Missense_Mutation_p.A54V|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.A54V|RPS6KL1_ENST00000554900.1_Intron|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.A54V			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	36	65	0	140	54						ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GATCTGCGTGGCCGCATCCAC	0.592000													1	0	1	1	1	1	1.000000	42	72	0	158	0	1.394047e-01	1	1	0	158	4
VIPAS39	63894	broad.mit.edu	37	14	77920439	77920439	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:77920439G>A	ENST00000553888.1	-	2	517	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	VIPAS39_ENST00000556412.1_Missense_Mutation_p.R29W|VIPAS39_ENST00000557658.1_Missense_Mutation_p.R3W|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R3W|VIPAS39_ENST00000448935.2_Missense_Mutation_p.R3W|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R3W	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	29	28	0	44																		CCCTTTGTCCGATTCATCTAC	0.453000													1	1	1	1	1	1	1.000000	33	32	0	50	0	0	0	1	0	50	5
DYNC1H1	1778	broad.mit.edu	37	14	102506038	102506038	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:102506038C>T	ENST00000360184.4	+	62	11823	c.11659C>T	c.(11659-11661)Ctg>Ttg	p.L3887L	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	62	67	0	133	3887					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			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCCATGCTGCTGGCAAGAAT	0.537000													1	1	1	1	1	1	1.000000	63	80	0	142	1	9.991832e-01	12	6	0	142	5
CDC42BPB	9578	broad.mit.edu	37	14	103465909	103465909	+	Missense_Mutation	SNP	C	C	T	rs147856179	by1000genomes	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:103465909C>T	ENST00000361246.2	-	5	877	c.589G>A	c.(589-591)Gtg>Atg	p.V197M		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	41	78	0	126	197	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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TACCTGTGCACGTAATGAAGC	0.463000													1	1	1	1	1	1	1.000000	46	96	0	137	0	0	0	0	0	137	5
GPR132	29933	broad.mit.edu	37	14	105518408	105518408	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:105518408C>T	ENST00000329797.3	-	4	977	c.66G>A	c.(64-66)ccG>ccA	p.P22P	GPR132_ENST00000392585.2_Silent_p.P13P|GPR132_ENST00000539291.2_Silent_p.P22P|GPR132_ENST00000546679.1_5'UTR	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	65	70	0	88	22					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GGGAGGCCCACGGGGCAGTGG	0.622000													1	1	1	1	1	1	1.000000	79	82	0	97	0	0	0	0	0	97	5
NUDT14	256281	broad.mit.edu	37	14	105643364	105643364	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:105643364G>A	ENST00000392568.2	-	3	219	c.125_splice	c.e3-1	p.S42_splice	RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	16	18	0	28	42	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		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)		GAACGGTCACGCTGTGTACGG	0.632000										HNSCC(42;0.11)			1	1	1	1	1	1	0.999994	17	24	0	29	1	9.909696e-01	4	11	0	29	5
MAGEL2	54551	broad.mit.edu	37	15	23889906	23889906	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:23889906T>C	ENST00000532292.1	-	1	1269	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G		NM_019066.4	NP_061939.3			MAGE-like 2	24	20	0	68											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		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)		ACTTGCGACCTCAGACACAAC	0.622000													1	1	1	1	1	1	1.000000	29	22	0	78	0	3.249476e-01	1	1	0	78	5
HERC2	8924	broad.mit.edu	37	15	28387443	28387443	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:28387443A>G	ENST00000261609.7	-	76	11749	c.11641T>C	c.(11641-11643)Tcc>Ccc	p.S3881P		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	19	28	0	55	3881					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			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		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)		GCAACACGGGAGGCCATGCAG	0.527000													1	1	1	1	1	1	1.000000	21	32	0	61	1	5.097511e-01	2	2	0	61	5
SLC12A6	9990	broad.mit.edu	37	15	34546772	34546772	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:34546772C>A	ENST00000354181.3	-	9	1387	c.895G>T	c.(895-897)Gct>Tct	p.A299S	SLC12A6_ENST00000397707.2_Missense_Mutation_p.A284S|SLC12A6_ENST00000558667.1_Missense_Mutation_p.A299S|SLC12A6_ENST00000558589.1_Missense_Mutation_p.A290S|SLC12A6_ENST00000290209.5_Missense_Mutation_p.A248S|SLC12A6_ENST00000458406.2_Missense_Mutation_p.A240S|SLC12A6_ENST00000560164.1_Missense_Mutation_p.A111S|SLC12A6_ENST00000451844.2_Missense_Mutation_p.A111S|SLC12A6_ENST00000560611.1_Missense_Mutation_p.A299S|SLC12A6_ENST00000397702.2_Missense_Mutation_p.A240S			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	31	52	0	66	299					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)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		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)	AAGATGGCAGCTCGGGGGACG	0.388000													1	1	1	1	1	1	1.000000	33	60	0	72	0	0	0	0	0	72	5
BUB1B	701	broad.mit.edu	37	15	40502378	40502378	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:40502378G>A	ENST00000287598.6	+	18	2547	c.2352G>A	c.(2350-2352)gcG>gcA	p.A784A	BUB1B_ENST00000412359.3_Silent_p.A798A	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	36	37	0	47	784	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			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		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)		TCTGGGTGGCGCCAAGAAACT	0.338000			Mis, N, F, S			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				1	1	1	1	1	1	1.000000	41	40	0	52	1	1	16	23	0	52	5
ATP8B4	79895	broad.mit.edu	37	15	50152666	50152666	+	Silent	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:50152666G>T	ENST00000284509.6	-	28	3445	c.3304C>A	c.(3304-3306)Cgg>Agg	p.R1102R	ATP8B4_ENST00000559829.1_Silent_p.R1102R	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	40	62	0	123	1102					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCTGCCACCGGCGGATCTGG	0.502000													1	1	1	1	1	1	1.000000	49	74	0	141	0	0	1	0	0	141	5
FAM214A	56204	broad.mit.edu	37	15	52905907	52905907	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:52905907A>T	ENST00000261844.7	-	3	316	c.164T>A	c.(163-165)gTa>gAa	p.V55E	FAM214A_ENST00000546305.2_Missense_Mutation_p.V62E	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	13	20	0	38	55								p.V55E(1)									TTTGGTAGTTACTGGGTAACA	0.408000													1	1	1	1	1	1	0.999970	15	23	0	40	0	0	0	0	0	40	5
UNC13C	440279	broad.mit.edu	37	15	54625988	54625988	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:54625988T>C	ENST00000545554.1	+	15	4518	c.4518T>C	c.(4516-4518)acT>acC	p.T1506T	UNC13C_ENST00000260323.11_Silent_p.T1506T|UNC13C_ENST00000537900.1_Silent_p.T1504T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	7	13	0	19	1506					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAAGCAATACTGAAAGACTGC	0.348000													1	1	1	1	1	1	0.997267	9	14	0	21	0	0	0	0	0	21	5
ZNF280D	54816	broad.mit.edu	37	15	56970921	56970921	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:56970921G>T	ENST00000559237.1	-	10	1747	c.1064C>A	c.(1063-1065)cCc>cAc	p.P355H	ZNF280D_ENST00000396245.1_Missense_Mutation_p.P72H|ZNF280D_ENST00000559000.1_Missense_Mutation_p.P355H|ZNF280D_ENST00000267807.7_Missense_Mutation_p.P368H	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	33	48	0	94	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		AAATGGTGTGGGAAACTGACG	0.408000													1	1	1	1	1	1	1.000000	37	57	0	105	0	0	0	0	0	105	5
NARG2	79664	broad.mit.edu	37	15	60747588	60747588	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:60747588C>A	ENST00000261520.4	-	7	954	c.720G>T	c.(718-720)caG>caT	p.Q240H	NARG2_ENST00000561114.1_Missense_Mutation_p.Q240H|NARG2_ENST00000439632.1_Missense_Mutation_p.Q103H	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	53	56	0	136	240						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCTTTGACAGCTGCAACTTTA	0.333000													1	1	1	1	1	1	1.000000	58	63	0	143	0	0	0	1	0	143	5
VPS13C	54832	broad.mit.edu	37	15	62201259	62201259	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:62201259G>A	ENST00000261517.5	-	65	8983	c.8910C>T	c.(8908-8910)taC>taT	p.Y2970Y	VPS13C_ENST00000395898.3_Silent_p.Y2927Y|VPS13C_ENST00000395896.4_Silent_p.Y2970Y|VPS13C_ENST00000249837.3_Silent_p.Y2927Y	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	24	30	0	56	2970					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ATCCCTCATGGTAATCAGAAA	0.378000													1	1	1	1	1	1	1.000000	24	35	0	63	0	0	0	1	0	63	5
PIF1	80119	broad.mit.edu	37	15	65110488	65110488	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:65110488C>A	ENST00000268043.4	-	10	1590	c.1496G>T	c.(1495-1497)gGg>gTg	p.G499V	PIF1_ENST00000333425.6_Missense_Mutation_p.G499V|PIF1_ENST00000559239.1_Missense_Mutation_p.G499V			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	24	49	0	95	499	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			kidney(1)|lung(1)	2						AACTACCACCCCTCGGGCACC	0.612000													1	1	1	1	1	1	1.000000	29	62	0	104	1	9.965293e-01	11	12	0	104	5
RAB11A	8766	broad.mit.edu	37	15	66170108	66170108	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:66170108G>A	ENST00000261890.2	+	3	373	c.245G>A	c.(244-246)cGt>cAt	p.R82H	RAB11A_ENST00000565075.1_Missense_Mutation_p.R82H|RAB11A_ENST00000569896.1_Missense_Mutation_p.R82H|RAB11A_ENST00000564910.1_Intron|RAB11A_ENST00000435304.2_Missense_Mutation_p.R82H	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	17	48	0	67	82					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			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						AGATATTATCGTGGAGCTGTA	0.358000													1	1	1	1	1	1	0.999997	19	55	0	70	1	1	91	123	0	70	5
ISLR2	57611	broad.mit.edu	37	15	74425609	74425609	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:74425609G>A	ENST00000361742.3	+	4	1283	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	ISLR2_ENST00000453268.2_Missense_Mutation_p.A172T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A172T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A172T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A172T|ISLR2_ENST00000435464.1_Missense_Mutation_p.A172T|ISLR2_ENST00000565159.1_Missense_Mutation_p.A172T|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	70	95	0	194	172					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CGCGCTTAGCGCGCTGTCACA	0.667000													1	1	1	1	1	1	1.000000	74	100	0	204	0	0	0	0	0	204	5
C15orf39	56905	broad.mit.edu	37	15	75498963	75498963	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:75498963C>T	ENST00000360639.2	+	2	894	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	C15orf39_ENST00000394987.4_Missense_Mutation_p.R192W|C15orf39_ENST00000567617.1_Missense_Mutation_p.R192W			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	48	62	0	114	192										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CACCTTCTTGCGGGGGGTGCC	0.627000													1	1	1	1	1	1	1.000000	51	64	0	118	0	1.929972e-01	0	2	0	118	5
ADAMTS7	11173	broad.mit.edu	37	15	79058095	79058095	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:79058095G>A	ENST00000388820.4	-	19	4368	c.4158C>T	c.(4156-4158)caC>caT	p.H1386H		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	42	61	0	113	1386					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGGGACTCTGTGGCTGTTGG	0.682000													1	1	1	1	0	1	1.000000	48	75	0	99	1	9.999055e-01	10	17	0	99	4
ALPK3	57538	broad.mit.edu	37	15	85383002	85383002	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:85383002A>G	ENST00000258888.5	+	5	1265	c.1098A>G	c.(1096-1098)tcA>tcG	p.S366S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	44	64	0	110	366	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGTCCTGCTCAGGGGTCCTGG	0.607000													1	1	1	1	1	1	1.000000	47	70	0	116	0	0	1	0	0	116	5
KLHL25	64410	broad.mit.edu	37	15	86312497	86312497	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:86312497C>T	ENST00000337975.5	-	2	819	c.545G>A	c.(544-546)aGc>aAc	p.S182N	KLHL25_ENST00000536947.1_Missense_Mutation_p.S182N|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	30	36	0	72	182						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GAAGTCCTCGCTCTGCCTCAC	0.617000													1	1	1	1	1	1	1.000000	34	40	0	84	0	0	0	1	0	84	5
MEIOB	254528	broad.mit.edu	37	16	1891830	1891830	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:1891830C>T	ENST00000412554.2	-	11	1219	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	MEIOB_ENST00000452149.2_Missense_Mutation_p.R342Q|MEIOB_ENST00000325962.3_Missense_Mutation_p.R342Q|LA16c-429E7.1_ENST00000570247.1_RNA|MEIOB_ENST00000397344.3_Missense_Mutation_p.R342Q|MEIOB_ENST00000470044.1_Missense_Mutation_p.R135Q	NM_001163560.2	NP_001157032.1			meiosis specific with OB domains	13	14	0	20																		CCATCTATTTCGAACTACTTT	0.313000													1	1	1	1	1	1	0.999906	13	14	0	20	1	1	47	53	0	20	5
NOXO1	0	broad.mit.edu	37	16	2030447	2030447	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2030447G>A	ENST00000354249.4	-	4	688	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Missense_Mutation_p.R112C|NOXO1_ENST00000397280.4_Missense_Mutation_p.R113C|NOXO1_ENST00000356120.4_Missense_Mutation_p.R108C	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	34	52	0	31	113	PX.				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			lung(2)	2						CGTGCCACGCGCTCTGCAGTC	0.687000													1	1	1	1	1	1	1.000000	38	55	0	32	0	0	0	1	0	32	5
PKD1	5310	broad.mit.edu	37	16	2160364	2160364	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2160364G>A	ENST00000262304.4	-	15	5012	c.4804C>T	c.(4804-4806)Cgc>Tgc	p.R1602C	PKD1_ENST00000423118.1_Missense_Mutation_p.R1602C	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	43	54	0	114	1602	PKD 11.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCACGGAGCGGAAGGTGTAA	0.612000													1	1	1	1	1	1	1.000000	49	60	0	118	0	0	0	0	0	118	5
E4F1	1877	broad.mit.edu	37	16	2282537	2282537	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2282537C>T	ENST00000301727.4	+	5	738	c.690C>T	c.(688-690)cgC>cgT	p.R230R	E4F1_ENST00000564139.1_Silent_p.R230R|E4F1_ENST00000565090.1_Silent_p.R230R	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	12	29	0	27	230	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CCTCCTTCCGCACCAAGGGCT	0.692000													1	1	1	1	1	1	0.999794	13	32	0	28	1	9.990823e-01	15	21	0	28	5
C16orf59	80178	broad.mit.edu	37	16	2511156	2511156	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2511156T>G	ENST00000569496.1	+	4	595	c.536T>G	c.(535-537)cTc>cGc	p.L179R	C16orf59_ENST00000361837.4_Missense_Mutation_p.L179R|C16orf59_ENST00000483320.1_Missense_Mutation_p.L12R|C16orf59_ENST00000563531.1_Missense_Mutation_p.L179R			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	14	24	0	18	179										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GGGGCGGGCCTCAGGGACCAG	0.677000													0	1	1	0	0	1	0.999968	15	24	0	18	1	9.999990e-01	20	37	0	18	2
NTN3	4917	broad.mit.edu	37	16	2522735	2522735	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:2522735G>A	ENST00000293973.1	+	2	1165	c.962G>A	c.(961-963)cGc>cAc	p.R321H		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	61	85	0	176	321	Laminin EGF-like 2.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CGCCGCTGCCGCTTCAACATG	0.692000													1	1	1	1	1	1	1.000000	117	165	0	196	0	0	0	1	0	196	5
KREMEN2	79412	broad.mit.edu	37	16	3016379	3016379	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:3016379G>A	ENST00000572045.1	+	4	720	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	KREMEN2_ENST00000575769.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000575885.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000571007.1_Missense_Mutation_p.G139S|KREMEN2_ENST00000319500.6_Missense_Mutation_p.G139S|KREMEN2_ENST00000303746.5_Missense_Mutation_p.G139S	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	60	96	0	128	139	WSC.				Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						AGCCCTCAGCGGCCCCAGCGG	0.642000													1	1	1	1	1	1	1.000000	65	104	0	132	1	1	77	71	0	132	5
ROGDI	79641	broad.mit.edu	37	16	4848176	4848176	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:4848176C>T	ENST00000322048.7	-	8	919	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	ROGDI_ENST00000586336.1_5'UTR	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	7	25	0	36	181						intracellular				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						AGGGCAGGGGCGAACATCCGC	0.652000													1	1	1	1	1	1	0.996236	9	27	0	36	1	9.986654e-01	17	27	0	36	5
MKL2	57496	broad.mit.edu	37	16	14355246	14355246	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:14355246G>A	ENST00000571589.1	+	17	3417	c.3245G>A	c.(3244-3246)aGc>aAc	p.S1082N	MKL2_ENST00000318282.5_Missense_Mutation_p.S1032N|MKL2_ENST00000341243.5_Missense_Mutation_p.S1071N|MKL2_ENST00000574045.1_Missense_Mutation_p.S1032N	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	35	45	0	101	1071					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			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCGCGCCGAGCATGTTCTCT	0.507000													1	1	1	1	1	1	1.000000	42	53	0	116	0	0	0	0	0	116	5
XYLT1	64131	broad.mit.edu	37	16	17228506	17228506	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:17228506G>A	ENST00000261381.6	-	9	1935	c.1851C>T	c.(1849-1851)taC>taT	p.Y617Y	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	84	108	0	228	617					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTAGTTCCCGTACAGGTAAT	0.572000													1	1	1	1	1	1	1.000000	90	119	0	238	0	0	0	0	0	238	5
GP2	2813	broad.mit.edu	37	16	20335435	20335435	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:20335435C>T	ENST00000302555.5	-	3	387	c.238G>A	c.(238-240)Gca>Aca	p.A80T	GP2_ENST00000381362.4_Missense_Mutation_p.A80T|GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	37	45	0	108	80						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGGGACCCTGCTGAGTTCTCT	0.572000													1	1	1	1	1	1	1.000000	41	48	0	113	0	0	0	0	0	113	5
DNAH3	55567	broad.mit.edu	37	16	20974801	20974801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:20974801C>A	ENST00000261383.3	-	53	10404	c.10405G>T	c.(10405-10407)Gga>Tga	p.G3469*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	18	29	0	67	3469					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCTCCAATCCTTGAGAGAAC	0.512000													1	1	1	1	1	1	0.999999	19	30	0	70	0	1.583710e-01	0	2	0	70	5
NPIPB5	100132247	broad.mit.edu	37	16	22545825	22545825	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:22545825G>A	ENST00000424340.1	+	7	1800	c.1521G>A	c.(1519-1521)gcG>gcA	p.A507A	NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Silent_p.A507A	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5	22	113	0	647																		CACCCTCAGCGGATGATAATC	0.597000													1	0	0	1	0	1	0.999999	22	119	0	181	0	7.384658e-01	0	16	0	181	2
ASPHD1	253982	broad.mit.edu	37	16	29912571	29912571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:29912571G>A	ENST00000308748.5	+	1	531	c.279G>A	c.(277-279)tgG>tgA	p.W93*	ASPHD1_ENST00000483405.1_Intron	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	55	83	0	122	93					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			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						TGTTCCTCTGGTACTGCTACC	0.682000													1	1	1	1	1	1	1.000000	64	94	0	138	1	1	92	17	0	138	5
ZNF785	146540	broad.mit.edu	37	16	30594122	30594122	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:30594122A>G	ENST00000395216.2	-	3	1136	c.977T>C	c.(976-978)cTc>cCc	p.L326P	AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.L311P|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	42	61	0	100	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						ACTGAGGAGGAGGGAAGAATA	0.647000													1	1	1	1	1	1	1.000000	47	71	0	107	1	9.641575e-01	4	7	0	107	5
ITGAX	3687	broad.mit.edu	37	16	31382762	31382762	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:31382762T>C	ENST00000268296.4	+	16	2070	c.1949T>C	c.(1948-1950)gTa>gCa	p.V650A	ITGAX_ENST00000562522.1_Missense_Mutation_p.V650A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	41	38	0	85	650					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAGACCCTGGTACAGTCCAAC	0.582000													1	1	1	1	0	1	1.000000	45	42	0	92	0	0	0	0	0	92	4
CNGB1	1258	broad.mit.edu	37	16	57918264	57918264	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:57918264C>T	ENST00000564448.1	-	33	3602	c.3542G>A	c.(3541-3543)cGg>cAg	p.R1181Q	CNGB1_ENST00000251102.8_Missense_Mutation_p.R1187Q			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	19	35	0	47	1187					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGGGGCGTCCGGGGCGCGGG	0.741000													1	1	1	1	0	1	0.999999	20	40	0	48	0	0	0	0	0	48	4
KIAA0895L	653319	broad.mit.edu	37	16	67212216	67212216	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67212216G>A	ENST00000290881.7	-	6	1965	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	KIAA0895L_ENST00000561679.1_Missense_Mutation_p.R192C|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R347C|KIAA0895L_ENST00000563831.2_5'UTR|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R347C			Q68EN5	K895L_HUMAN	KIAA0895-like	13	8	0	16	347										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						AAGGACATGCGCGCGGCGCGG	0.682000													1	1	1	1	1	1	0.999999	17	9	0	19	1	9.999645e-01	7	11	0	19	5
CTCF	10664	broad.mit.edu	37	16	67650654	67650654	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67650654G>A	ENST00000264010.4	+	5	1403	c.959G>A	c.(958-960)cGt>cAt	p.R320H	CTCF_ENST00000401394.1_5'UTR	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	104	124	0	220	320					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			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		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)		CTAGGTACTCGTCCTCACAAG	0.488000													1	1	1	1	1	1	1.000000	118	139	0	237	1	9.951977e-01	5	8	0	237	5
GFOD2	81577	broad.mit.edu	37	16	67709560	67709560	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67709560C>T	ENST00000268797.7	-	3	1001	c.656G>A	c.(655-657)aGc>aAc	p.S219N	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	31	29	0	90	219						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		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)		GAAGTCATCGCTAGTGACGTG	0.577000													1	1	1	1	1	1	1.000000	33	31	0	94	1	9.999208e-01	9	11	0	94	5
CENPT	80152	broad.mit.edu	37	16	67863714	67863714	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67863714G>A	ENST00000562787.1	-	12	1688	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	CENPT_ENST00000219172.3_Silent_p.D380D|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000440851.2_Silent_p.D380D	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	72	82	0	145	380					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		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)		CTCCTGGCCCGTCAGCCTCAG	0.612000													1	1	1	1	1	1	1.000000	76	87	0	154	1	1	30	77	0	154	5
SLC12A4	6560	broad.mit.edu	37	16	67985067	67985067	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:67985067C>T	ENST00000422611.2	-	8	1318	c.1279G>A	c.(1279-1281)Ggc>Agc	p.G427S	SLC12A4_ENST00000338335.3_Missense_Mutation_p.G425S|SLC12A4_ENST00000541864.2_Missense_Mutation_p.G394S|SLC12A4_ENST00000537830.2_Missense_Mutation_p.G419S|SLC12A4_ENST00000572037.1_Missense_Mutation_p.G377S|SLC12A4_ENST00000316341.3_Missense_Mutation_p.G425S|SLC12A4_ENST00000576616.1_Missense_Mutation_p.G425S	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	72	108	0	161	425					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		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)	AAGAAGATGCCGACCAGCACG	0.622000													1	1	1	1	1	1	1.000000	81	120	0	176	1	7.690119e-01	2	4	0	176	5
NFAT5	10725	broad.mit.edu	37	16	69726657	69726657	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:69726657C>T	ENST00000349945.1	+	14	4199	c.2647C>T	c.(2647-2649)Cct>Tct	p.P883S	NFAT5_ENST00000354436.2_Missense_Mutation_p.P959S|NFAT5_ENST00000567239.1_Missense_Mutation_p.P976S|NFAT5_ENST00000393742.2_Missense_Mutation_p.P883S|NFAT5_ENST00000432919.1_Missense_Mutation_p.P977S|NFAT5_ENST00000566899.1_Missense_Mutation_p.P883S	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	38	54	0	105	959	Poly-Gln.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTCTTCTCCTCCTGCAGTTTC	0.448000													1	0	1	1	1	1	1.000000	42	59	1	106	0	0	0	0	1	106	4
MTSS1L	92154	broad.mit.edu	37	16	70698625	70698625	+	Missense_Mutation	SNP	C	C	A	rs139508787		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:70698625C>A	ENST00000338779.6	-	14	1621	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	FLJ00418_ENST00000597002.1_De_novo_Start_InFrame	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	10	19	0	38	449					filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						GCGTCAGCACCATGGCCAGGT	0.667000													1	1	1	1	0	1	0.999648	12	22	0	40	1	9.982297e-01	10	17	0	40	4
ZFHX3	463	broad.mit.edu	37	16	72822572	72822572	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:72822572C>T	ENST00000268489.5	-	10	10275	c.9603G>A	c.(9601-9603)caG>caA	p.Q3201Q	ZFHX3_ENST00000397992.5_Silent_p.Q2287Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	89	117	0	237	3201	Poly-Gln.				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			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gttgctgctgctgctgctgct	0.652000													1	1	1	1	1	1	1.000000	95	121	0	241	0	0	1	0	0	241	5
CTRB1	1504	broad.mit.edu	37	16	75258615	75258615	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:75258615G>A	ENST00000361017.4	+	7	651	c.643G>A	c.(643-645)Ggc>Agc	p.G215S		NM_001906.4	NP_001897.4			chymotrypsinogen B1	28	40	0	87											central_nervous_system(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(221;0.166)		CGACTCTGGCGGCCCCCTGGT	0.662000													1	1	1	1	1	1	1.000000	32	47	0	97	0	0	0	0	0	97	5
CNTNAP4	85445	broad.mit.edu	37	16	76528916	76528916	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:76528916C>T	ENST00000307431.8	+	15	2572	c.2187C>T	c.(2185-2187)tgC>tgT	p.C729C	CNTNAP4_ENST00000476707.1_Silent_p.C733C|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.C681C|CNTNAP4_ENST00000478060.1_Silent_p.C657C	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	49	85	0	166	730	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGGGAAACTGCATTGATTCTC	0.378000													1	1	1	1	1	1	1.000000	57	98	0	193	0	0	0	0	0	193	5
WWOX	51741	broad.mit.edu	37	16	78458772	78458772	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:78458772T>G	ENST00000566780.1	+	7	977	c.611T>G	c.(610-612)cTt>cGt	p.L204R	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.L204R|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	31	337	0	432	204	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			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		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)		TTCAGGCCTCTTCATGTGCTT	0.463000													1	1	1	1	0	1	1.000000	33	396	0	485	0	0	0	1	0	485	4
ZDHHC7	55625	broad.mit.edu	37	16	85015539	85015539	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:85015539C>A	ENST00000313732.4	-	4	729	c.377G>T	c.(376-378)gGg>gTg	p.G126V	ZDHHC7_ENST00000569488.1_Intron|ZDHHC7_ENST00000564466.1_Missense_Mutation_p.G163V	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	87	100	0	170	126						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						GATGACTTCCCCGGGCTTCAG	0.527000													1	1	1	1	1	1	1.000000	96	115	0	186	1	8.989291e-01	2	5	0	186	5
ZCCHC14	23174	broad.mit.edu	37	16	87445609	87445609	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:87445609A>C	ENST00000268616.4	-	12	2524	c.2307T>G	c.(2305-2307)caT>caG	p.H769Q		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	25	30	0	42	769	His-rich.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGGGCTGCtgatggtggtggt	0.667000													1	1	1	1	0	1	1.000000	26	32	0	42	1	8.772672e-01	3	3	0	42	4
ZCCHC14	23174	broad.mit.edu	37	16	87445612	87445612	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:87445612G>A	ENST00000268616.4	-	12	2521	c.2304C>T	c.(2302-2304)caC>caT	p.H768H		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	26	30	0	43	768	His-rich.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCTGCtgatggtggtggtggt	0.667000													1	1	1	1	0	1	1.000000	26	34	0	43	1	7.966019e-01	2	4	0	43	4
ZC3H18	124245	broad.mit.edu	37	16	88643557	88643557	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:88643557G>A	ENST00000301011.5	+	2	226	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R9Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	25	44	0	73	9						nucleus	nucleic acid binding|zinc ion binding	p.R9L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGCCCTGAACGGGATCCTCAC	0.547000													1	1	1	1	1	1	1.000000	26	48	0	80	1	6.816769e-01	6	0	0	80	5
SPG7	6687	broad.mit.edu	37	16	89617001	89617001	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:89617001C>T	ENST00000268704.2	+	13	1778	c.1763C>T	c.(1762-1764)aCg>aTg	p.T588M		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	46	45	0	110	588					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			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		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)		CTGGAGCACACGGAGGCCGTG	0.612000													1	1	1	1	1	1	1.000000	50	49	0	112	1	1	41	22	0	112	5
MC1R	4157	broad.mit.edu	37	16	89985820	89985820	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:89985820A>G	ENST00000555427.1	+	3	2457	c.154A>G	c.(154-156)Agc>Ggc	p.S52G	TUBB3_ENST00000556922.1_Missense_Mutation_p.S52G|MC1R_ENST00000555147.1_Missense_Mutation_p.S52G					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)	50	71	0	90											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		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)		GGGGCTGGTGAGCTTGGTGGA	0.642000									Melanoma, Familial Clustering of				1	1	1	1	1	1	1.000000	60	82	0	104	1	9.750621e-01	5	6	0	104	5
OR1A1	8383	broad.mit.edu	37	17	3119791	3119791	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:3119791C>T	ENST00000304094.1	+	1	877	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	56	92	0	150	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293W(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTGAGAAATCGGGACATGAA	0.468000													1	1	1	1	1	1	1.000000	62	101	0	167	0	0	0	0	0	167	5
UBE2G1	7326	broad.mit.edu	37	17	4200057	4200057	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4200057G>A	ENST00000396981.2	-	3	367	c.202C>T	c.(202-204)Cga>Tga	p.R68*	UBE2G1_ENST00000572484.1_5'UTR	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	101	170	0	208	68					protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	p.R68R(1)		large_intestine(2)|lung(4)|skin(1)	7						TTAGGAGGTCGGAGGGGATAA	0.353000													1	1	1	1	1	1	1.000000	117	204	0	246	1	9.991648e-01	5	17	0	246	5
ALOX15	246	broad.mit.edu	37	17	4534907	4534907	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4534907A>G	ENST00000570836.1	-	15	2073	c.1977T>C	c.(1975-1977)agT>agC	p.S659S	ALOX15_ENST00000293761.3_Silent_p.S659S|ALOX15_ENST00000574640.1_Silent_p.S620S|ALOX15_ENST00000545513.1_Silent_p.S681S			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	40	59	0	128	659	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AGATGGCCACACTGTTTTCCA	0.577000													1	1	1	1	0	1	1.000000	40	60	0	129	1	1.607543e-01	2	0	0	129	4
MINK1	50488	broad.mit.edu	37	17	4798393	4798393	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4798393C>T	ENST00000355280.6	+	25	3137	c.2941C>T	c.(2941-2943)Cgg>Tgg	p.R981W	MINK1_ENST00000347992.7_Missense_Mutation_p.R952W|MINK1_ENST00000453408.3_Missense_Mutation_p.R961W	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	21	36	0	57	981	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGAGGGCACTCGGCTCGACCA	0.597000													1	1	1	1	1	1	1.000000	26	42	0	63	1	9.759870e-01	7	6	0	63	5
GP1BA	2811	broad.mit.edu	37	17	4836674	4836674	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4836674G>A	ENST00000329125.5	+	2	850	c.775G>A	c.(775-777)Gtg>Atg	p.V259M		NM_000173.5	NP_000164.5	E7ES66	E7ES66_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	47	62	0	115	259										central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GACCTCTAACGTGGCCAGTGT	0.502000													1	1	1	1	1	1	1.000000	51	64	0	123	0	0	0	0	0	123	5
SLC16A11	162515	broad.mit.edu	37	17	6946780	6946780	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:6946780G>A	ENST00000308009.1	-	1	462	c.125C>T	c.(124-126)gCg>gTg	p.A42V	SLC16A11_ENST00000447225.1_Missense_Mutation_p.A18V	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	15	11	0	21	42						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GGCTGCGGCCGCCACCACCCA	0.697000													1	1	1	1	0	1	0.999988	15	12	0	22	0	0	0	0	0	22	4
TMEM102	284114	broad.mit.edu	37	17	7339922	7339922	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:7339922A>C	ENST00000323206.1	+	3	897	c.624A>C	c.(622-624)aaA>aaC	p.K208N	TMEM102_ENST00000396568.1_Missense_Mutation_p.K208N|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	59	78	0	132	208					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				CTTTGGAAAAATCGCCTAGTG	0.552000													1	1	1	1	0	1	1.000000	65	83	0	139	1	9.999945e-01	16	13	0	139	4
MYH10	4628	broad.mit.edu	37	17	8448900	8448900	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:8448900C>T	ENST00000360416.3	-	13	1435	c.1297G>A	c.(1297-1299)Gca>Aca	p.A433T	MYH10_ENST00000396239.1_Missense_Mutation_p.A423T|MYH10_ENST00000379980.4_Missense_Mutation_p.A439T|MYH10_ENST00000269243.4_Missense_Mutation_p.A423T	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	20	26	1	55	423	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			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGCCAATGCTTCTACTGCA	0.398000													1	0	1	1	1	1	0.999951	21	32	1	56	0	0	0	0	1	56	4
GLP2R	9340	broad.mit.edu	37	17	9763352	9763352	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:9763352A>G	ENST00000262441.5	+	7	1372	c.859A>G	c.(859-861)Acg>Gcg	p.T287A	GLP2R_ENST00000574745.1_Missense_Mutation_p.T107A	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	11	25	0	40	287					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	CTACCTCCACACGCTGCTGGA	0.572000													0	0	1	1	0	1	0.999147	11	26	0	40	0	0	0	0	0	40	2
MYH3	4621	broad.mit.edu	37	17	10555851	10555851	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:10555851G>A	ENST00000583535.1	-	4	321	c.234C>T	c.(232-234)taC>taT	p.Y78Y	MYH3_ENST00000226209.7_Silent_p.Y78Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	45	51	0	105	78	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.Y78Y(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGTTCATGGCGTACACATCCT	0.468000													1	1	1	1	1	1	1.000000	53	61	0	125	0	0	0	0	0	125	5
DNAH9	1770	broad.mit.edu	37	17	11725897	11725897	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:11725897A>C	ENST00000262442.3	+	47	9061	c.8993A>C	c.(8992-8994)cAg>cCg	p.Q2998P	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2998P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	68	92	0	229	2998	AAA 4 (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			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		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)		CGCTTCTTGCAGAACACAGAG	0.522000													1	1	1	1	1	1	1.000000	71	99	0	252	0	0	0	0	0	252	5
CCDC144A	9720	broad.mit.edu	37	17	16593988	16593988	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:16593988G>A	ENST00000443444.2	+	1	414	c.274G>A	c.(274-276)Gac>Aac	p.D92N	CCDC144A_ENST00000360524.8_Missense_Mutation_p.D92N|CCDC144A_ENST00000340621.5_Missense_Mutation_p.D92N|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D92N|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D92N|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Missense_Mutation_p.D92N			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	94	141	0	276	92																	CCGGTCGGGCGACGTCCCTGG	0.642000													1	1	1	1	0	1	1.000000	104	157	0	280	0	0	0	0	0	280	4
LGALS9	3965	broad.mit.edu	37	17	25976006	25976006	+	Nonstop_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:25976006T>C	ENST00000395473.2	+	11	2534	c.1066T>C	c.(1066-1068)Tag>Cag	p.*356Q	LGALS9_ENST00000313648.6_3'UTR|LGALS9_ENST00000413914.2_3'UTR|LGALS9_ENST00000302228.5_Nonstop_Mutation_p.*324Q|LGALS9_ENST00000310394.5_Nonstop_Mutation_p.*312Q	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	72	121	0	226	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TGTGCAGACATAGGCGGCTTC	0.627000													1	1	1	1	0	1	1.000000	78	142	0	240	0	9.135422e-01	0	9	0	240	4
PROCA1	147011	broad.mit.edu	37	17	27031790	27031790	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:27031790C>T	ENST00000301039.2	-	2	356	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.A57T	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	31	44	0	104	83					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CAGTCAGAGGCGAAAGGGTAG	0.592000													1	1	1	1	1	1	1.000000	37	52	0	119	1	7.523604e-01	3	3	0	119	5
ZNF207	7756	broad.mit.edu	37	17	30694992	30694992	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:30694992G>A	ENST00000394670.4	+	10	1292	c.1123G>A	c.(1123-1125)Gca>Aca	p.A375T	ZNF207_ENST00000394673.2_Missense_Mutation_p.A344T|ZNF207_ENST00000577908.1_Missense_Mutation_p.A375T|ZNF207_ENST00000342555.6_Missense_Mutation_p.A378T|ZNF207_ENST00000341711.6_Missense_Mutation_p.A276T|ZNF207_ENST00000321233.6_Missense_Mutation_p.A359T	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	37	62	0	90	359						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AACAACTAGTGCAACCAGTAA	0.398000													1	1	1	1	1	1	1.000000	39	67	0	91	1	1	71	94	0	91	5
SPACA3	124912	broad.mit.edu	37	17	31323957	31323957	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:31323957G>A	ENST00000580599.1	+	4	642	c.233G>A	c.(232-234)aGc>aAc	p.S78N	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000269053.3_Missense_Mutation_p.S147N|SPACA3_ENST00000394638.1_Missense_Mutation_p.S44N			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	61	72	1	152	147					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			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CAGATCAACAGCCGGAGGTGG	0.607000													1	0	1	1	1	1	1.000000	69	81	1	170	0	0	1	0	1	170	4
ASIC2	40	broad.mit.edu	37	17	32483140	32483140	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:32483140G>A	ENST00000359872.6	-	1	1173	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	50	73	0	175	138					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.R138W(1)								Amiloride(DB00594)	GCCTTCTGCCGCAGGGCCTCC	0.592000													1	1	1	1	1	1	1.000000	57	80	0	198	0	0	0	0	0	198	5
GAS2L2	246176	broad.mit.edu	37	17	34074161	34074161	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:34074161G>T	ENST00000254466.6	-	5	986	c.959C>A	c.(958-960)cCt>cAt	p.P320H	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P304H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	70	98	0	179	320					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGTCCACAGGGGGTGGTGG	0.652000													1	1	1	1	1	1	1.000000	77	112	0	188	0	0	0	0	0	188	5
GRB7	2886	broad.mit.edu	37	17	37899524	37899524	+	Silent	SNP	C	C	T	rs145171655		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:37899524C>T	ENST00000309156.4	+	5	812	c.555C>T	c.(553-555)ttC>ttT	p.F185F	GRB7_ENST00000394211.3_Silent_p.F185F|GRB7_ENST00000394204.1_Silent_p.F185F|GRB7_ENST00000394209.2_Silent_p.F185F|GRB7_ENST00000309185.3_Silent_p.F185F|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000445327.2_Silent_p.F208F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	50	51	0	107	185	Ras-associating.				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			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	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)			GGAAAAACTTCGCCAAGTACG	0.617000													1	1	1	1	1	1	1.000000	50	57	0	112	0	0	0	1	0	112	5
TMEM106A	113277	broad.mit.edu	37	17	41369782	41369782	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:41369782G>A	ENST00000331615.3	+	9	988	c.751G>A	c.(751-753)Gca>Aca	p.A251T	TMEM106A_ENST00000541594.1_Missense_Mutation_p.A203T|TMEM106A_ENST00000536052.1_Missense_Mutation_p.A204T|LINC00854_ENST00000427995.1_RNA|TMEM106A_ENST00000588659.1_Missense_Mutation_p.A251T	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	127	183	0	283	251						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		CCGAGGAAACGCATCTGTGCC	0.577000													1	1	1	1	1	1	1.000000	137	195	0	306	0	1.714362e-01	1	1	0	306	5
ATXN7L3	56970	broad.mit.edu	37	17	42272160	42272160	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:42272160C>T	ENST00000389384.4	-	10	1021	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	ATXN7L3_ENST00000593073.1_5'UTR|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.R245Q	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	12	21	0	37	238	SCA7.				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			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAAATAAATCCGTACGGTTCG	0.577000													1	1	1	1	1	1	0.999967	15	25	0	40	1	9.199544e-01	6	4	0	40	5
ARHGAP27	201176	broad.mit.edu	37	17	43473179	43473179	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:43473179C>A	ENST00000532038.1	-	15	1892	c.1757G>T	c.(1756-1758)cGt>cTt	p.R586L	ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R786L|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R467L|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R781L|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R808L|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R440L|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R467L			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	10	13	0	20	808	PH.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CACCAAGTCACGCACACAGCG	0.692000													1	1	1	1	0	1	0.998784	10	14	0	22	0	1.880342e-01	0	2	0	22	4
ARHGAP27	201176	broad.mit.edu	37	17	43474152	43474152	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:43474152C>T	ENST00000532038.1	-	11	1425	c.1290G>A	c.(1288-1290)gcG>gcA	p.A430A	ARHGAP27_ENST00000532891.2_Silent_p.A630A|ARHGAP27_ENST00000455881.1_Silent_p.A311A|ARHGAP27_ENST00000442348.1_Silent_p.A625A|ARHGAP27_ENST00000428638.1_Silent_p.A652A|ARHGAP27_ENST00000528384.1_Silent_p.A284A|ARHGAP27_ENST00000376922.2_Silent_p.A311A			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	9	25	0	33	652	WW 3.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CCAGGGCGGGCGCGGCTGCCG	0.716000													1	1	1	1	0	1	0.998260	10	25	0	33	0	0	0	0	0	33	4
B4GALNT2	124872	broad.mit.edu	37	17	47243577	47243577	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:47243577G>T	ENST00000300404.2	+	9	1295	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.E352D|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.E326D	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	31	38	0	68	412					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCAAGATTGAGGTGCTGGTGG	0.502000													1	1	1	1	1	1	1.000000	32	43	0	74	0	0	0	0	0	74	5
BCAS3	54828	broad.mit.edu	37	17	58767096	58767096	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:58767096T>C	ENST00000589222.1	+	4	256	c.188T>C	c.(187-189)gTc>gCc	p.V63A	BCAS3_ENST00000390652.5_Missense_Mutation_p.V63A|BCAS3_ENST00000588462.1_Missense_Mutation_p.V63A|BCAS3_ENST00000408905.3_Missense_Mutation_p.V63A|BCAS3_ENST00000407086.3_Missense_Mutation_p.V63A			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	19	30	0	61	63						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ATAGTCTGGGTCAGATTTGAA	0.328000													1	1	1	1	1	1	1.000000	23	35	0	74	0	0	0	0	0	74	5
MED13	9969	broad.mit.edu	37	17	60059865	60059865	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:60059865T>C	ENST00000397786.2	-	16	3575	c.3499A>G	c.(3499-3501)Agg>Ggg	p.R1167G		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	43	55	0	141	1167					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(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGGTAGCCCTGAGAGCTTCA	0.348000													1	1	1	1	1	1	1.000000	46	59	0	144	0	0	0	0	0	144	5
HELZ	9931	broad.mit.edu	37	17	65157070	65157070	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:65157070C>T	ENST00000358691.5	-	16	2184	c.2018G>A	c.(2017-2019)gGc>gAc	p.G673D	HELZ_ENST00000580168.1_Missense_Mutation_p.G673D	NM_014877.3	NP_055692.2			helicase with zinc finger	3	59	0	49											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GAACGTTTTGCCTGTCCCATA	0.507000													1	0	0	1	0	1	0.940062	5	61	0	52	0	0	0	1	0	52	2
ABCA6	23460	broad.mit.edu	37	17	67081776	67081776	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:67081776G>A	ENST00000284425.2	-	31	4193	c.4019C>T	c.(4018-4020)aCt>aTt	p.T1340I	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	13	15	0	44	1340	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTCTCCAGCAGTTGGCTTTGT	0.358000													1	1	1	1	1	1	0.999979	15	17	0	48	0	0	0	0	0	48	5
GPR142	350383	broad.mit.edu	37	17	72368690	72368690	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:72368690C>T	ENST00000335666.4	+	4	1388	c.1340C>T	c.(1339-1341)gCg>gTg	p.A447V		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	14	28	0	59	447						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.A447E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGCATGGCGGCGAAGCCTGTG	0.617000													1	1	1	1	1	1	0.999983	16	29	0	62	0	0	0	0	0	62	5
CD300A	11314	broad.mit.edu	37	17	72470735	72470735	+	Silent	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:72470735T>C	ENST00000360141.3	+	3	732	c.444T>C	c.(442-444)ttT>ttC	p.F148F	CD300A_ENST00000392625.3_Silent_p.F35F|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Silent_p.F35F|CD300A_ENST00000577511.1_Silent_p.F18F	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	49	69	0	106	148					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CAACTGCATTTCCACCTGTAT	0.532000													1	1	1	1	1	1	1.000000	54	73	0	110	0	0	0	1	0	110	5
RHBDF2	79651	broad.mit.edu	37	17	74469406	74469406	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:74469406A>G	ENST00000591885.1	-	16	2287	c.1737T>C	c.(1735-1737)tgT>tgC	p.C579C	RHBDF2_ENST00000389760.4_Silent_p.C579C|RHBDF2_ENST00000313080.4_Silent_p.C608C			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	17	13	0	25	608					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGGTGATCTCACAGCTAAGGG	0.597000													1	1	1	1	1	1	0.999998	17	14	0	27	1	9.998080e-01	9	10	0	27	5
CANT1	124583	broad.mit.edu	37	17	76989847	76989847	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:76989847C>T	ENST00000302345.2	-	4	1485	c.991G>A	c.(991-993)Gct>Act	p.A331T	CANT1_ENST00000591773.1_Missense_Mutation_p.A331T|CANT1_ENST00000392446.5_Missense_Mutation_p.A331T	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	28	39	0	74	331					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		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TGGCTCACAGCGATGTCGCCG	0.657000			T	ETV4	prostate								1	1	1	1	1	1	1.000000	31	46	0	77	1	8.821776e-01	3	5	0	77	5
TBC1D16	125058	broad.mit.edu	37	17	77984212	77984212	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:77984212C>T	ENST00000310924.2	-	3	641	c.526G>A	c.(526-528)Gcc>Acc	p.A176T		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	6	27	0	26	176						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGCTGCGAGGCTGGCTGGGCA	0.706000													1	1	1	1	1	1	0.969300	6	32	0	27	0	0	0	1	0	27	5
ARL16	339231	broad.mit.edu	37	17	79650090	79650090	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:79650090T>C	ENST00000397498.4	-	3	357	c.259A>G	c.(259-261)Atg>Gtg	p.M87V	ARL16_ENST00000570561.1_Start_Codon_SNP_p.M1V|ARL16_ENST00000576135.1_Start_Codon_SNP_p.M1V|ARL16_ENST00000573392.1_Intron|ARL16_ENST00000574938.1_Intron	NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	22	207	0	232	87							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ATGGGGCCCATGCACCCCCCA	0.488000													1	1	1	1	1	1	1.000000	24	240	0	258	1	6.610025e-01	2	22	0	258	5
RAC3	5881	broad.mit.edu	37	17	79991680	79991680	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:79991680C>T	ENST00000306897.4	+	6	692	c.554C>T	c.(553-555)cCg>cTg	p.P185L		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	17	7	0	15	185					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	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)			GTGAAGAAGCCGGGGAAGAAG	0.652000													0	0	1	0	0	1	0.999999	17	8	0	15	1	1	198	202	0	15	1
FASN	2194	broad.mit.edu	37	17	80049428	80049428	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:80049428C>T	ENST00000306749.2	-	9	1380	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	10	9	0	17	388	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(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	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)	TTGATGCCCACGTTGCCGCCA	0.682000													1	1	1	1	1	1	0.999826	12	11	0	18	0	5.288889e-01	1	2	0	18	5
OGFOD3	79701	broad.mit.edu	37	17	80356186	80356186	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:80356186C>T	ENST00000313056.5	-	8	860	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	OGFOD3_ENST00000329197.5_Missense_Mutation_p.G237S	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3	15	31	0	48																		TCGAAGGAGCCGTAGGTCACC	0.572000													1	1	1	1	1	1	0.999996	18	34	0	49	1	1	52	48	0	49	5
ZBTB14	7541	broad.mit.edu	37	18	5290969	5290969	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:5290969C>T	ENST00000357006.4	-	4	1576	c.1238G>A	c.(1237-1239)aGt>aAt	p.S413N	ZBTB14_ENST00000400143.3_Missense_Mutation_p.S413N	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14	42	69	0	163																		CTTCCTTTCACTGTGCATATT	0.532000													1	1	1	1	1	1	1.000000	47	82	0	179	1	9.608824e-01	3	9	0	179	5
PTPRM	5797	broad.mit.edu	37	18	8114820	8114820	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:8114820C>T	ENST00000332175.8	+	13	3199	c.2162C>T	c.(2161-2163)aCa>aTa	p.T721I	PTPRM_ENST00000400060.4_Missense_Mutation_p.T721I|PTPRM_ENST00000400053.4_Missense_Mutation_p.T659I|PTPRM_ENST00000580170.1_Missense_Mutation_p.T721I|PTPRM_ENST00000444013.1_Missense_Mutation_p.T508I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	19	15	0	23	721					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			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAAGTGGCCACAAAAGGTAGG	0.299000													1	1	1	1	1	1	1.000000	20	18	0	28	0	0	0	1	0	28	5
MC2R	0	broad.mit.edu	37	18	13885199	13885199	+	Missense_Mutation	SNP	C	C	T	rs104894661		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:13885199C>T	ENST00000327606.3	-	2	499	c.319G>A	c.(319-321)Gac>Aac	p.D107N		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	21	38	0	81	107			D -> N (in GCCD1).		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AACAGGGAGTCGATGATGTCA	0.498000													1	1	1	1	1	1	1.000000	23	42	0	81	0	0	0	0	0	81	5
LAMA3	3909	broad.mit.edu	37	18	21484616	21484616	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:21484616C>T	ENST00000313654.9	+	51	6814	c.6573C>T	c.(6571-6573)gaC>gaT	p.D2191D	LAMA3_ENST00000269217.6_Silent_p.D582D|LAMA3_ENST00000399516.3_Silent_p.D2135D|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.D526D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	14	17	0	44	2191	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			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	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)	CGGCCGAGGACGCAGCCAACA	0.582000													1	1	1	1	1	1	0.999989	16	20	0	49	0	0	0	0	0	49	5
MAPRE2	10982	broad.mit.edu	37	18	32720278	32720278	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:32720278C>T	ENST00000436190.2	+	8	1167	c.893C>T	c.(892-894)cCg>cTg	p.P298L	MAPRE2_ENST00000300249.5_Missense_Mutation_p.P310L|MAPRE2_ENST00000413393.1_Missense_Mutation_p.P267L|MAPRE2_ENST00000538170.2_Missense_Mutation_p.P257L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.P267L	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	9	16	0	35	310	APC-binding.|DCTN1-binding.|EB1 C-terminal.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						ACAGAAGAGCCGGAAGCAGAG	0.597000													1	1	1	1	1	1	0.999869	13	19	0	45	1	9.148046e-01	6	2	0	45	5
MOCOS	55034	broad.mit.edu	37	18	33800116	33800116	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:33800116C>T	ENST00000261326.5	+	9	1917	c.1896C>T	c.(1894-1896)ccC>ccT	p.P632P		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	25	48	0	113	632					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	AGCAGGAACCCCGGCTCTGCC	0.532000													1	1	1	1	1	1	1.000000	28	54	0	125	1	9.994975e-01	11	17	0	125	5
PIK3C3	5289	broad.mit.edu	37	18	39575909	39575909	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:39575909C>A	ENST00000262039.4	+	8	928	c.842C>A	c.(841-843)cCt>cAt	p.P281H	PIK3C3_ENST00000398870.3_Missense_Mutation_p.P218H	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	37	49	0	113	281					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			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGAAGTGGACCTTCTGACCAC	0.348000										TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	45	63	0	128	0	0	1	0	0	128	5
RNF165	494470	broad.mit.edu	37	18	44036491	44036491	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:44036491C>A	ENST00000269439.7	+	8	984	c.933C>A	c.(931-933)ccC>ccA	p.P311P	RNF165_ENST00000543885.1_Silent_p.P119P	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	52	70	0	141	311							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		GACGCCTACCCTGTATGCATC	0.592000													1	1	1	1	1	1	1.000000	59	88	0	156	0	0	0	0	0	156	5
CXXC1	30827	broad.mit.edu	37	18	47811722	47811722	+	Splice_Site	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:47811722C>A	ENST00000285106.6	-	6	1354		c.e6-1		CXXC1_ENST00000412036.2_Splice_Site|CXXC1_ENST00000589940.1_Splice_Site	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	25	42	0	61						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			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TGTACGATTCCTGTGCCGGCA	0.672000													1	1	1	1	1	1	1.000000	28	51	0	69	1	9.999833e-01	23	15	0	69	5
TCF4	6925	broad.mit.edu	37	18	52896149	52896149	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:52896149T>G	ENST00000354452.3	-	18	2419	c.1808A>C	c.(1807-1809)aAg>aCg	p.K603T	TCF4_ENST00000561831.3_Missense_Mutation_p.K439T|TCF4_ENST00000565018.2_Missense_Mutation_p.K603T|TCF4_ENST00000537578.1_Missense_Mutation_p.K579T|TCF4_ENST00000543082.1_Missense_Mutation_p.K557T|TCF4_ENST00000398339.1_Missense_Mutation_p.K705T|TCF4_ENST00000570177.2_Missense_Mutation_p.K469T|TCF4_ENST00000561992.1_Missense_Mutation_p.K469T|TCF4_ENST00000564999.1_Missense_Mutation_p.K599T|TCF4_ENST00000570287.2_Missense_Mutation_p.K439T|TCF4_ENST00000356073.4_Missense_Mutation_p.K599T|TCF4_ENST00000457482.3_Missense_Mutation_p.K443T|TCF4_ENST00000568740.1_Missense_Mutation_p.K574T|TCF4_ENST00000566279.1_Missense_Mutation_p.K543T|TCF4_ENST00000537856.3_Missense_Mutation_p.K469T|TCF4_ENST00000568673.1_Missense_Mutation_p.K579T|TCF4_ENST00000544241.2_Missense_Mutation_p.K532T|TCF4_ENST00000564228.1_Missense_Mutation_p.K528T|TCF4_ENST00000567880.1_Missense_Mutation_p.K539T|TCF4_ENST00000540999.1_Missense_Mutation_p.K575T|TCF4_ENST00000564403.2_Missense_Mutation_p.K609T|TCF4_ENST00000566286.1_Missense_Mutation_p.K596T	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	35	63	0	132	599	Helix-loop-helix motif.				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			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GGTCTGGGGCTTGTCACTCTT	0.617000													1	1	1	1	1	1	1.000000	35	69	0	136	0	1.174396e-01	1	1	0	136	5
CDH20	28316	broad.mit.edu	37	18	59221723	59221723	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:59221723A>G	ENST00000262717.4	+	12	2599	c.2201A>G	c.(2200-2202)gAc>gGc	p.D734G	CDH20_ENST00000538374.1_Missense_Mutation_p.D734G|CDH20_ENST00000536675.2_Missense_Mutation_p.D734G			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	10	12	0	36	734					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TACGAGGCCGACATGGACCTG	0.647000													1	1	1	1	0	1	0.998919	10	12	0	37	0	0	0	0	0	37	4
CDH7	1005	broad.mit.edu	37	18	63525089	63525089	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:63525089T>G	ENST00000536984.2	+	8	1967	c.1273T>G	c.(1273-1275)Ttc>Gtc	p.F425V	CDH7_ENST00000397968.2_Missense_Mutation_p.F425V|CDH7_ENST00000323011.3_Missense_Mutation_p.F425V			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	5	109	0	129	425	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGAGAGATACTTCAATATTGA	0.388000													1	0	1	1	0	1	0.966098	6	126	0	134	0	0	0	0	0	134	3
CDH7	1005	broad.mit.edu	37	18	63547798	63547798	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:63547798G>A	ENST00000397968.2	+	12	2452	c.2026G>A	c.(2026-2028)Gtc>Atc	p.V676I	CDH7_ENST00000323011.3_Missense_Mutation_p.V676I	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	36	46	1	99	676					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AAACCTCAACGTCATCCGAGA	0.483000													1	0	1	1	1	1	1.000000	39	50	1	105	0	0	0	0	1	105	4
PQLC1	80148	broad.mit.edu	37	18	77703350	77703350	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:77703350C>T	ENST00000397778.2	-	3	498	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	PQLC1_ENST00000590381.1_Missense_Mutation_p.A106T|PQLC1_ENST00000357575.4_Missense_Mutation_p.A106T|PQLC1_ENST00000409073.1_Missense_Mutation_p.A23T	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	116	142	0	326	106						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CGGCGCCTGGCGTTGAGCTCG	0.582000													1	1	1	1	1	1	1.000000	129	161	0	349	1	1	22	24	0	349	5
KLF16	83855	broad.mit.edu	37	19	1854672	1854672	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:1854672G>A	ENST00000250916.4	-	2	615	c.545C>T	c.(544-546)aCg>aTg	p.T182M	KLF16_ENST00000592313.1_5'UTR	NM_031918.3	NP_114124.1	Q9BXK1	KLF16_HUMAN	Kruppel-like factor 16	34	44	0	34	182						nucleus	DNA binding|zinc ion binding			lung(1)	1		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)		CTTCTCGCCCGTGTGCGTCCG	0.687000													1	1	1	1	0	1	1.000000	45	56	0	37	1	9.951307e-01	5	9	0	37	4
KDM4B	23030	broad.mit.edu	37	19	5131092	5131092	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:5131092G>A	ENST00000159111.4	+	12	1539	c.1321G>A	c.(1321-1323)Ggg>Agg	p.G441R	KDM4B_ENST00000536461.1_Missense_Mutation_p.G475R	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	6	8	0	9	441					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			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CACAGAGGACGGGAGGGGCAA	0.652000													0	1	1	1	1	1	0.976616	6	9	0	14	0	3.756450e-01	1	2	0	14	4
SAFB	6294	broad.mit.edu	37	19	5661692	5661692	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:5661692G>A	ENST00000292123.5	+	15	2133	c.2026G>A	c.(2026-2028)Gtg>Atg	p.V676M	SAFB_ENST00000588852.1_Missense_Mutation_p.V676M|SAFB_ENST00000592224.1_Missense_Mutation_p.V675M|SAFB_ENST00000538656.1_Missense_Mutation_p.V518M|SAFB_ENST00000454510.1_Missense_Mutation_p.V607M|SAFB_ENST00000433404.1_Missense_Mutation_p.V506M	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	12	19	0	35	676	Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		ACGCATGCACGTGGAGCACGA	0.711000													1	0	1	1	1	1	0.999974	15	20	0	38	1	1	115	112	0	38	4
KHSRP	8570	broad.mit.edu	37	19	6417016	6417016	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:6417016G>A	ENST00000398148.3	-	12	1256	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	9	103	0	65	388	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			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TCTGGAGGAGGTCGTTGATGA	0.642000													1	1	1	1	0	1	0.997242	10	122	0	73	1	9.292582e-01	7	52	0	73	4
PNPLA6	10908	broad.mit.edu	37	19	7623913	7623913	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:7623913G>A	ENST00000221249.6	+	31	3892	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1127H|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1154H|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1192H|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1202H	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	31	40	0	70	1193					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ATCCAGTCCCGCCTGGCCTAC	0.607000													1	1	1	1	1	1	1.000000	33	42	0	73	1	1	29	53	0	73	5
COL5A3	50509	broad.mit.edu	37	19	10078753	10078753	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:10078753A>G	ENST00000264828.3	-	60	4402	c.4317T>C	c.(4315-4317)ggT>ggC	p.G1439G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	37	52	0	73	1439	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GACCAGGGGGACCCTAGGAAA	0.582000													1	1	1	1	1	1	1.000000	41	61	0	73	0	3.588534e-01	0	3	0	73	5
S1PR2	9294	broad.mit.edu	37	19	10335188	10335188	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:10335188C>T	ENST00000590320.1	-	2	504	c.394G>A	c.(394-396)Gtg>Atg	p.V132M		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	29	43	0	61	132					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCAATGGCCACGTGGCGCTCA	0.637000													1	1	1	1	1	1	1.000000	33	45	0	63	0	0	0	0	0	63	5
TSPAN16	26526	broad.mit.edu	37	19	11409591	11409591	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:11409591C>T	ENST00000316737.1	+	3	461	c.311C>T	c.(310-312)gCt>gTt	p.A104V	TSPAN16_ENST00000592955.1_Intron|TSPAN16_ENST00000590327.1_Missense_Mutation_p.A104V	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	30	69	0	80	104						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GAAGTTACAGCTGCCACAGTG	0.512000													1	1	1	1	1	1	1.000000	34	77	0	90	0	0	0	0	0	90	5
TNPO2	30000	broad.mit.edu	37	19	12825886	12825886	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:12825886A>G	ENST00000425528.1	-	9	1103	c.746T>C	c.(745-747)aTc>aCc	p.I249T	TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000450764.2_Missense_Mutation_p.I249T|TNPO2_ENST00000441499.1_Missense_Mutation_p.I249T|TNPO2_ENST00000592287.1_Missense_Mutation_p.I249T|TNPO2_ENST00000588216.1_Missense_Mutation_p.I249T|TNPO2_ENST00000356861.5_Missense_Mutation_p.I249T			O14787	TNPO2_HUMAN	transportin 2	37	43	0	69	249					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CATGTGGGGGATGAGCCTGTC	0.642000													1	1	1	1	1	1	1.000000	39	47	0	73	1	9.955322e-01	3	11	0	73	5
MRI1	84245	broad.mit.edu	37	19	13879657	13879657	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:13879657C>T	ENST00000319545.8	+	5	660	c.603C>T	c.(601-603)gaC>gaT	p.D201D	MRI1_ENST00000040663.6_Silent_p.D248D	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	10	29	0	34	248					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TGGGAGCTGACCGCGTGGTTG	0.647000													1	1	1	1	1	1	0.999063	11	32	0	39	1	9.944256e-01	11	20	0	39	5
NOTCH3	4854	broad.mit.edu	37	19	15295220	15295220	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:15295220C>T	ENST00000263388.2	-	16	2527	c.2452G>A	c.(2452-2454)Gca>Aca	p.A818T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	23	50	0	67	818	EGF-like 21; 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	p.A818S(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCACAGGGTGCGGGGCCAGCA	0.612000													1	1	1	1	1	1	1.000000	28	59	0	72	0	0	0	1	0	72	5
RASAL3	64926	broad.mit.edu	37	19	15572069	15572069	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:15572069C>A	ENST00000343625.6	-	4	584	c.504G>T	c.(502-504)gaG>gaT	p.E168D		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	13	21	0	44	168					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GGATGCTGCCCTCGGAGCTAG	0.627000													1	1	1	1	1	1	0.999924	14	25	0	52	0	0	0	0	0	52	5
EPS15L1	58513	broad.mit.edu	37	19	16528892	16528892	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:16528892G>A	ENST00000602009.1	-	5	1407	c.512C>T	c.(511-513)aCg>aTg	p.T171M	EPS15L1_ENST00000597937.1_Missense_Mutation_p.T325M|EPS15L1_ENST00000535753.2_Missense_Mutation_p.T325M|EPS15L1_ENST00000455140.2_Missense_Mutation_p.T325M|EPS15L1_ENST00000248070.6_Missense_Mutation_p.T325M|EPS15L1_ENST00000594975.1_Missense_Mutation_p.T325M			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	27	43	0	68	325	EF-hand.|EH 2.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						TAACTTCCCCGTTTGCCTCGT	0.537000											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	31	52	0	72	1	9.267297e-01	5	5	0	72	5
CPAMD8	27151	broad.mit.edu	37	19	17108016	17108016	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17108016C>T	ENST00000443236.1	-	11	1172	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	CPAMD8_ENST00000388925.4_Missense_Mutation_p.D334N	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	17	25	0	86	334						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGGAGTCATCGAACGCGACC	0.642000													0	0	1	1	0	1	0.999993	17	27	0	57	0	0	0	0	0	57	2
COLGALT1	79709	broad.mit.edu	37	19	17691986	17691986	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17691986G>A	ENST00000252599.4	+	12	1722	c.1601_splice	c.e12-1	p.V534_splice		NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1	172	270	0	420																		CTCCCCCCAGGTCCGAGTACA	0.592000													1	1	1	1	1	1	1.000000	195	320	0	468	1	1	27	30	0	468	5
MAP1S	55201	broad.mit.edu	37	19	17836817	17836817	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17836817C>T	ENST00000324096.4	+	5	775	c.624C>T	c.(622-624)tgC>tgT	p.C208C	MAP1S_ENST00000544059.2_Silent_p.C182C|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	13	15	0	21	208	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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						AGGGCCTGTGCGAATTCCTGG	0.716000													1	1	1	1	1	1	0.999958	14	15	0	22	1	9.730065e-01	3	7	0	22	5
JAK3	3718	broad.mit.edu	37	19	17955064	17955064	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17955064C>T	ENST00000458235.1	-	2	262	c.163G>A	c.(163-165)Gtg>Atg	p.V55M	JAK3_ENST00000527670.1_Missense_Mutation_p.V55M|JAK3_ENST00000534444.1_Missense_Mutation_p.V55M|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	8	11	0	10	55	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	p.V55L(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GCAGCCTGCACGCACAGGTCC	0.657000		2	Mis		acute megakaryocytic leukemia, ETP ALL								0	1	1	1	1	1	0.998919	10	12	0	12	0	0	0	0	0	12	4
KIAA1683	80726	broad.mit.edu	37	19	18378026	18378026	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:18378026C>T	ENST00000392413.3	-	3	539	c.324G>A	c.(322-324)acG>acA	p.T108T	KIAA1683_ENST00000600328.2_Silent_p.T108T|KIAA1683_ENST00000600359.2_Silent_p.T62T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	56	70	0	100	108	IQ 1.					mitochondrion		p.T108T(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTTGGATGAGCGTGGCTGCAC	0.637000													1	1	1	1	1	1	1.000000	62	78	0	107	0	0	0	0	0	107	5
SLC25A42	284439	broad.mit.edu	37	19	19218753	19218753	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:19218753T>C	ENST00000318596.7	+	7	699	c.548T>C	c.(547-549)cTg>cCg	p.L183P	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	118	88	0	129	183					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GAAGAGGGGCTGAAGACTCTC	0.562000													1	1	1	1	1	1	1.000000	132	93	0	135	0	0	0	0	0	135	5
ANKRD27	84079	broad.mit.edu	37	19	33095253	33095253	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:33095253G>A	ENST00000306065.4	-	25	2729	c.2571C>T	c.(2569-2571)ttC>ttT	p.F857F		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	23	25	1	57	857					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.F857F(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GCTCTACCACGAAGACGTGCT	0.557000													1	0	1	1	1	1	0.999992	23	27	1	58	0	8.937014e-01	1	6	1	58	4
GRAMD1A	57655	broad.mit.edu	37	19	35500223	35500223	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:35500223G>A	ENST00000599564.1	+	3	541	c.470G>A	c.(469-471)cGc>cAc	p.R157H	GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000424536.2_Missense_Mutation_p.R70H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R70H|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R70H|GRAMD1A_ENST00000504615.2_5'UTR			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	36	56	0	81	70	GRAM.					integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	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)			AACTTCATCCGCAACAGCAAG	0.622000													1	1	1	1	1	1	1.000000	37	61	0	85	1	9.999864e-01	12	23	0	85	5
APLP1	333	broad.mit.edu	37	19	36365461	36365461	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:36365461G>A	ENST00000221891.4	+	9	1304	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	APLP1_ENST00000537454.2_Missense_Mutation_p.R332H|APLP1_ENST00000589298.2_3'UTR|APLP1_ENST00000586861.1_Missense_Mutation_p.R365H	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	75	86	0	148	371					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			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	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)			GAGCGACAGCGCCTGGTGGAA	0.652000													1	1	1	1	1	1	1.000000	80	92	0	155	1	1	55	49	0	155	5
ZNF260	339324	broad.mit.edu	37	19	37005246	37005246	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:37005246T>C	ENST00000523638.1	-	3	2016	c.895A>G	c.(895-897)Aca>Gca	p.T299A	ZNF260_ENST00000592282.1_Missense_Mutation_p.T299A|ZNF260_ENST00000593142.1_Missense_Mutation_p.T299A|ZNF260_ENST00000588993.1_Missense_Mutation_p.T299A	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	53	50	0	82	299					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TTCTCTCCTGTATGAATATTG	0.353000													1	1	1	1	1	1	1.000000	58	55	0	85	1	7.034560e-01	4	0	0	85	5
ZNF571	51276	broad.mit.edu	37	19	38056224	38056224	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:38056224C>A	ENST00000328550.2	-	4	1205	c.1106G>T	c.(1105-1107)gGg>gTg	p.G369V	ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000589750.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.G369V|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000592392.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	15	30	0	54	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGGTCTTCCCGCATTCTTT	0.393000													1	1	1	1	1	1	0.999980	16	34	0	61	0	5.207591e-01	1	4	0	61	5
SUPT5H	6829	broad.mit.edu	37	19	39963560	39963560	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:39963560C>T	ENST00000599117.1	+	23	2513	c.2146C>T	c.(2146-2148)Ccc>Tcc	p.P716S	SUPT5H_ENST00000598725.1_Missense_Mutation_p.P716S|SUPT5H_ENST00000402194.2_Missense_Mutation_p.P712S|SUPT5H_ENST00000359191.6_Missense_Mutation_p.P712S|SUPT5H_ENST00000432763.2_Missense_Mutation_p.P716S			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	23	41	0	61	716	KOW 5.				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			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	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)			CTCCCAGGGGCCCTACAAAGG	0.682000													1	1	1	1	1	1	1.000000	26	50	0	66	1	9.999997e-01	30	29	0	66	5
DYRK1B	9149	broad.mit.edu	37	19	40316673	40316673	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:40316673C>T	ENST00000593685.1	-	11	2040	c.1572G>A	c.(1570-1572)aaG>aaA	p.K524K	DYRK1B_ENST00000323039.5_Silent_p.K524K|DYRK1B_ENST00000597639.1_Silent_p.K496K|DYRK1B_ENST00000430012.2_Silent_p.K484K|DYRK1B_ENST00000348817.3_Silent_p.K496K			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	29	51	0	43	524					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	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)			CTTGATGTGTCTTGTGGGGCA	0.642000													1	1	1	1	0	1	1.000000	31	52	0	44	1	9.999839e-01	19	17	0	44	4
FBL	2091	broad.mit.edu	37	19	40331278	40331278	+	Missense_Mutation	SNP	C	C	T	rs139541583		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:40331278C>T	ENST00000221801.3	-	2	273	c.160G>A	c.(160-162)Ggt>Agt	p.G54S		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	17	17	0	61	54	DMA/Gly-rich.				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	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)		cctcctccaccgccgccgccg	0.662000													1	0	1	1	0	1	0.999999	19	18	0	63	1	9.999547e-01	24	0	0	63	3
SPTBN4	57731	broad.mit.edu	37	19	41000844	41000844	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:41000844C>T	ENST00000352632.3	+	6	714	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	SPTBN4_ENST00000338932.3_Missense_Mutation_p.R210W|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R210W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R210W|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R210W			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	20	36	0	56	210	Actin-binding.|CH 2.				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			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCAGCTGGCGGGATGGCTT	0.582000													1	1	1	1	1	1	1.000000	24	42	0	66	0	0	0	0	0	66	5
DMRTC2	63946	broad.mit.edu	37	19	42351810	42351810	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:42351810C>T	ENST00000269945.3	+	3	282	c.231C>T	c.(229-231)cgC>cgT	p.R77R	DMRTC2_ENST00000596827.1_Silent_p.R77R|DMRTC2_ENST00000602098.1_3'UTR	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	13	26	0	33	77					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TTAGGGAGCGCCGCAGGGTCA	0.602000													1	1	1	1	0	1	0.999900	14	34	0	36	0	0	0	0	0	36	4
XRCC1	7515	broad.mit.edu	37	19	44057626	44057626	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:44057626C>A	ENST00000262887.5	-	6	1075	c.528G>T	c.(526-528)aaG>aaT	p.K176N	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.K145N			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	42	55	0	99	176					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CATCCTCCTCCTTCACACGGA	0.597000								Other BER factors					1	1	1	1	1	1	1.000000	46	63	0	105	1	9.999998e-01	15	26	0	105	5
NKPD1	284353	broad.mit.edu	37	19	45655971	45655971	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:45655971G>A	ENST00000317951.4	-	4	1723	c.1724C>T	c.(1723-1725)gCg>gTg	p.A575V	NKPD1_ENST00000438936.2_Missense_Mutation_p.A353V|NKPD1_ENST00000429338.1_Missense_Mutation_p.A353V|NKPD1_ENST00000589776.1_Missense_Mutation_p.A353V	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1	5	8	0	12											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CGCCTGCACCGCCAGCAGCTG	0.741000													0	1	1	1	0	1	0.949969	5	10	0	13	0	0	0	0	0	13	3
HIF3A	64344	broad.mit.edu	37	19	46815488	46815488	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:46815488C>T	ENST00000339613.2	+	7	928	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	HIF3A_ENST00000600383.1_Silent_p.L212L|HIF3A_ENST00000244303.6_Silent_p.L212L|HIF3A_ENST00000300862.3_Silent_p.L279L|HIF3A_ENST00000377670.4_Silent_p.L281L|HIF3A_ENST00000472815.1_Silent_p.L212L|HIF3A_ENST00000420102.2_Silent_p.L230L|HIF3A_ENST00000525854.1_3'UTR			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	58	86	0	216	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		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)		CATCCACGCGCTGGACTCCGA	0.612000													1	1	1	1	1	1	1.000000	61	93	0	235	0	0	0	1	0	235	5
FKRP	79147	broad.mit.edu	37	19	47260141	47260141	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:47260141C>T	ENST00000318584.5	+	4	1731	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	FKRP_ENST00000391909.3_Silent_p.I478I|FKRP_ENST00000600646.1_Intron	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	9	11	0	23	478						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		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)		CCGGGGTCATCGAGAACCCCC	0.637000													1	1	1	1	1	1	0.997517	9	12	0	23	1	9.444145e-01	3	7	0	23	5
DHX34	9704	broad.mit.edu	37	19	47856557	47856557	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:47856557C>A	ENST00000328771.4	+	2	619	c.270C>A	c.(268-270)atC>atA	p.I90I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	54	105	0	172	90						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		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)		AGCACAGCATCCCAGCGCTGG	0.587000													1	1	1	1	1	1	1.000000	62	122	0	190	1	7.415161e-01	4	3	0	190	5
TMEM143	55260	broad.mit.edu	37	19	48848477	48848477	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:48848477C>T	ENST00000293261.3	-	4	820	c.504G>A	c.(502-504)ccG>ccA	p.P168P	TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000435956.3_Silent_p.P133P|TMEM143_ENST00000541566.1_Silent_p.P58P	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	67	96	0	133	168						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		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)		CCTCAGACAGCGGGGAGAAGT	0.622000													1	1	1	1	1	1	1.000000	71	104	0	142	0	0	1	0	0	142	5
CD37	0	broad.mit.edu	37	19	49841230	49841230	+	Missense_Mutation	SNP	G	G	A	rs147415665		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:49841230G>A	ENST00000535669.2	+	5	505	c.391G>A	c.(391-393)Ggc>Agc	p.G131S	CD37_ENST00000598095.1_Missense_Mutation_p.G63S|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000323906.4_Missense_Mutation_p.G131S|CD37_ENST00000426897.2_Missense_Mutation_p.G63S|CTC-301O7.4_ENST00000358234.4_lincRNA			P11049	CD37_HUMAN	CD37 molecule	22	33	0	65	131						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		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)		CCAAAAGTACGGCACCAACCC	0.642000													1	0	1	1	1	1	1.000000	23	36	0	71	0	3.449926e-01	0	3	0	71	4
TEAD2	8463	broad.mit.edu	37	19	49845739	49845739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:49845739G>A	ENST00000377214.4	-	10	1557	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	TEAD2_ENST00000601519.1_Nonsense_Mutation_p.R399*|TEAD2_ENST00000311227.2_Nonsense_Mutation_p.R396*|TEAD2_ENST00000539846.1_Nonsense_Mutation_p.R268*|TEAD2_ENST00000598810.1_Nonsense_Mutation_p.R400*|TEAD2_ENST00000593945.1_Nonsense_Mutation_p.R400*			Q15562	TEAD2_HUMAN	TEA domain family member 2	41	54	0	77	396	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		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)		ATCATGTATCGCTCAGGCAGC	0.602000													1	1	1	1	1	1	1.000000	43	58	0	82	1	1	60	80	0	82	5
FLT3LG	0	broad.mit.edu	37	19	49982287	49982287	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:49982287A>T	ENST00000595510.1	+	5	519	c.218A>T	c.(217-219)gAg>gTg	p.E73V	FLT3LG_ENST00000597551.1_Missense_Mutation_p.E155V|FLT3LG_ENST00000600429.1_Missense_Mutation_p.E155V|FLT3LG_ENST00000596435.1_Missense_Mutation_p.E137V|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000594009.1_Missense_Mutation_p.E155V|FLT3LG_ENST00000204637.2_Missense_Mutation_p.E73V|FLT3LG_ENST00000344019.3_Missense_Mutation_p.E155V|CTD-3148I10.9_ENST00000599536.1_Intron			P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	8	11	0	11	155					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		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;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CGGTGCCTGGAGCTGCAGTGT	0.647000													0	1	1	1	1	1	0.999540	11	12	0	12	1	9.979948e-01	7	11	0	12	4
TBC1D17	79735	broad.mit.edu	37	19	50381767	50381767	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:50381767C>A	ENST00000221543.5	+	3	432	c.133C>A	c.(133-135)Ctc>Atc	p.L45I	TBC1D17_ENST00000535102.2_Missense_Mutation_p.L12I|TBC1D17_ENST00000598789.1_3'UTR	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	36	36	0	74	45						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		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)		CAATGACGTCCTCCTGCACTG	0.537000													1	1	1	1	1	1	1.000000	44	48	0	85	1	9.882178e-01	4	7	0	85	5
FAM71E1	112703	broad.mit.edu	37	19	50979571	50979571	+	Silent	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:50979571G>T	ENST00000600100.1	-	1	439	c.75C>A	c.(73-75)ctC>ctA	p.L25L	FAM71E1_ENST00000595790.1_Silent_p.L25L			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	17	28	0	35	25										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		CGTCACACAAGAGCGGGCTCC	0.662000													1	1	1	1	1	1	0.999997	18	29	0	38	0	3.375750e-01	1	2	0	38	5
SHANK1	50944	broad.mit.edu	37	19	51217078	51217078	+	Missense_Mutation	SNP	C	C	T	rs138468869		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:51217078C>T	ENST00000293441.1	-	5	787	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	SHANK1_ENST00000359082.3_Missense_Mutation_p.A257T|SHANK1_ENST00000391814.1_Missense_Mutation_p.A257T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	42	56	0	79	257					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CAGTGTCGGGCGCATGCGGCC	0.627000													1	1	1	1	1	1	1.000000	43	59	0	82	0	0	0	0	0	82	5
NLRP2	55655	broad.mit.edu	37	19	55497518	55497518	+	Splice_Site	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:55497518G>T	ENST00000543010.1	+	8	2344		c.e8-1		NLRP2_ENST00000339757.7_Splice_Site|NLRP2_ENST00000448584.2_Splice_Site|NLRP2_ENST00000538819.1_Splice_Site|NLRP2_ENST00000391721.4_Splice_Site|NLRP2_ENST00000263437.6_Splice_Site|NLRP2_ENST00000537859.1_Splice_Site|NLRP2_ENST00000427260.2_Splice_Site	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	15	27	0	36						apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTTTTCCCTAGGTTCAAAAAC	0.423000													1	1	1	1	0	1	0.999960	15	29	0	39	0	0	0	1	0	39	4
NLRP9	338321	broad.mit.edu	37	19	56249561	56249561	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:56249561G>A	ENST00000332836.2	-	1	207	c.180C>T	c.(178-180)gaC>gaT	p.D60D		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	248	323	0	569	60	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGTAATGTTTGTCCAGCAGCT	0.468000													1	1	1	1	1	1	1.000000	276	360	0	622	0	0	0	0	0	622	5
ZNF671	79891	broad.mit.edu	37	19	58232447	58232447	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:58232447G>A	ENST00000317398.6	-	4	1102	c.1007C>T	c.(1006-1008)aCt>aTt	p.T336I	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.T238I	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	32	83	0	112	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		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)		CCTTTCTCCAGTGTGAACTGT	0.463000													1	1	1	1	1	1	1.000000	35	96	0	120	1	5.114008e-01	3	3	0	120	5
ZNF329	79673	broad.mit.edu	37	19	58640477	58640477	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:58640477A>G	ENST00000598312.1	-	4	627	c.394T>C	c.(394-396)Tcc>Ccc	p.S132P	ZNF329_ENST00000358067.4_Missense_Mutation_p.S132P	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	62	55	0	97	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		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)		ACTTCCATGGAATGGTTGAAG	0.423000													1	1	1	1	1	1	1.000000	66	60	0	105	1	5.348614e-01	2	1	0	105	5
RBCK1	10616	broad.mit.edu	37	20	398171	398171	+	Splice_Site	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:398171C>G	ENST00000356286.5	+	3	874	c.167_splice	c.e3-1	p.L57_splice	RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Splice_Site_p.L15_splice	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	17	58	0	71	57	Interaction with IRF3.|Interaction with TAB2.|Ubiquitin-like.				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			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TCTCTGCAGGCTGTGGGTGAG	0.592000													1	1	1	1	1	1	0.999984	17	62	0	79	1	7.990480e-01	4	9	0	79	5
PRNP	5621	broad.mit.edu	37	20	4680506	4680506	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:4680506T>G	ENST00000379440.4	+	2	927	c.640T>G	c.(640-642)Tgt>Ggt	p.C214G	PRNP_ENST00000430350.2_Missense_Mutation_p.C214G	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	67	36	0	65	214	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TGAGCAGATGTGTATCACCCA	0.522000													1	1	1	1	1	1	1.000000	74	43	0	69	1	1	27	12	0	69	5
BCL2L1	598	broad.mit.edu	37	20	30253853	30253853	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:30253853C>T	ENST00000307677.4	-	3	1011	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	BCL2L1_ENST00000376062.2_Missense_Mutation_p.A201T|BCL2L1_ENST00000420653.1_Missense_Mutation_p.A201T|BCL2L1_ENST00000376055.4_Missense_Mutation_p.A138T	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	38	110	0	91	201					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			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	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)			CGGCTCTCGGCTGCTGCATTG	0.557000													1	1	1	1	1	1	1.000000	46	126	0	99	1	9.982039e-01	9	21	0	99	5
E2F1	1869	broad.mit.edu	37	20	32267721	32267721	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:32267721G>A	ENST00000343380.5	-	3	551	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	32	60	0	61	138					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			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						TCCAGGAAGCGCTTGGTGGTC	0.602000													1	1	1	1	1	1	1.000000	36	65	0	67	1	9.955281e-01	2	17	0	67	5
PTPRT	11122	broad.mit.edu	37	20	40980772	40980772	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:40980772T>C	ENST00000373198.3	-	10	1949	c.1714A>G	c.(1714-1716)Aag>Gag	p.K572E	PTPRT_ENST00000373184.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373190.1_Missense_Mutation_p.K572E|PTPRT_ENST00000356100.2_Missense_Mutation_p.K572E|PTPRT_ENST00000373193.3_Missense_Mutation_p.K572E|PTPRT_ENST00000373201.1_Missense_Mutation_p.K572E|PTPRT_ENST00000373187.1_Missense_Mutation_p.K572E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	48	101	0	153	572	Fibronectin type-III 3.				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			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCAAAGCCCTTTGCTGTGCTG	0.517000													1	1	1	1	1	1	1.000000	55	115	0	166	0	0	0	0	0	166	5
MYBL2	4605	broad.mit.edu	37	20	42333926	42333926	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:42333926T>C	ENST00000217026.4	+	9	1560	c.1433T>C	c.(1432-1434)gTg>gCg	p.V478A	MYBL2_ENST00000396863.4_Missense_Mutation_p.V454A	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	28	67	0	85	478						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCCACCCCAGTGTGCAGCCAG	0.557000													1	1	1	1	1	1	1.000000	31	74	0	93	1	1	32	55	0	93	5
SEMG1	6406	broad.mit.edu	37	20	43837242	43837242	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:43837242A>G	ENST00000372781.3	+	2	1361	c.1304A>G	c.(1303-1305)gAt>gGt	p.D435G	SEMG1_ENST00000244069.6_Missense_Mutation_p.D375G	NM_003007.3	NP_002998.1			semenogelin I	121	90	0	157											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGGGGATTGGATATTGTAATT	0.403000													1	1	1	1	1	1	1.000000	138	98	0	174	0	0	0	0	0	174	5
MATN4	8785	broad.mit.edu	37	20	43933378	43933378	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:43933378C>T	ENST00000537548.1	-	4	377	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	MATN4_ENST00000372754.1_Missense_Mutation_p.V45M|MATN4_ENST00000353917.5_Missense_Mutation_p.V45M|MATN4_ENST00000342716.4_Missense_Mutation_p.V45M|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000360607.5_Missense_Mutation_p.V45M|MATN4_ENST00000372756.1_Missense_Mutation_p.V45M|MATN4_ENST00000372751.4_Intron			O95460	MATN4_HUMAN	matrilin 4	19	41	0	54	45	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AAAGGGCGCACGCTGCGGGAG	0.632000													1	0	1	1	0	1	1.000000	24	48	0	55	0	0	0	1	0	55	3
ZNFX1	57169	broad.mit.edu	37	20	47892343	47892343	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:47892343G>A	ENST00000396105.1	-	2	280	c.34C>T	c.(34-36)Ccc>Tcc	p.P12S	ZNFX1_ENST00000371754.4_Missense_Mutation_p.P12S|ZNFX1_ENST00000371752.1_Missense_Mutation_p.P12S	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	24	63	0	58	12							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAATTCCTGGGCCTGGCATCC	0.423000													1	1	1	1	1	1	1.000000	30	78	0	67	0	0	0	1	0	67	5
ATP9A	10079	broad.mit.edu	37	20	50255979	50255979	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:50255979A>G	ENST00000338821.5	-	15	1835	c.1571T>C	c.(1570-1572)aTg>aCg	p.M524T	ATP9A_ENST00000402822.1_Missense_Mutation_p.M403T|ATP9A_ENST00000311637.5_Missense_Mutation_p.M388T	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	46	100	0	139	524					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCTCAGCTGCATGGAAGACTG	0.552000											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	50	107	0	142	0	0	0	0	0	142	5
GNAS	2778	broad.mit.edu	37	20	57428472	57428472	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:57428472C>T	ENST00000371100.4	+	1	704	c.152C>T	c.(151-153)aCc>aTc	p.T51I	GNAS_ENST00000371102.4_Missense_Mutation_p.T51I|GNAS_ENST00000371099.2_Missense_Mutation_p.T51I|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	16	4	0	20	0					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			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGATGGAGACCGAACCGCCT	0.652000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)			1	0	1	1	1	1	0.999999	16	4	0	20	0	0	0	0	0	20	4
ZNF831	128611	broad.mit.edu	37	20	57767907	57767907	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:57767907G>A	ENST00000371030.2	+	1	1833	c.1833G>A	c.(1831-1833)agG>agA	p.R611R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	46	141	0	193	611						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCAGAGAAGGCTGAAGATGT	0.597000													1	1	1	1	1	1	1.000000	51	164	0	210	0	0	0	0	0	210	5
LAMA5	3911	broad.mit.edu	37	20	60927343	60927343	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:60927343G>A	ENST00000252999.3	-	4	708	c.642C>T	c.(640-642)atC>atT	p.I214I	LAMA5_ENST00000370677.3_Silent_p.I214I|LAMA5_ENST00000370692.3_Silent_p.I214I	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	19	54	0	46	214	Laminin N-terminal.				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			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGTGGTGCAGATGGCCGCGT	0.697000													1	1	1	1	1	1	0.999999	21	63	0	55	0	0	1	0	0	55	5
GMEB2	26205	broad.mit.edu	37	20	62236098	62236098	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62236098A>G	ENST00000266068.1	-	2	705	c.227T>C	c.(226-228)tTa>tCa	p.L76S	GMEB2_ENST00000370069.1_Missense_Mutation_p.L25S|GMEB2_ENST00000370077.1_Missense_Mutation_p.L76S			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	23	128	0	95	76					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	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)			CTTCCTACCTAACACGGCTTC	0.572000													1	1	1	1	1	1	1.000000	24	141	0	99	0	6.210107e-02	1	2	0	99	5
RTEL1	51750	broad.mit.edu	37	20	62328274	62328274	+	Missense_Mutation	SNP	T	T	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62328274T>A	ENST00000318100.4	+	36	4888	c.4061T>A	c.(4060-4062)gTg>gAg	p.V1354E	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V1354E|TNFRSF6B_ENST00000369996.1_Missense_Mutation_p.C52S			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	32	22	0	35	0					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			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	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)			GTGCGCCCAGTGCCCCCCAGG	0.701000													1	1	1	1	0	1	1.000000	36	25	0	38	1	1	41	26	0	38	4
UCKL1	54963	broad.mit.edu	37	20	62571740	62571740	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:62571740G>A	ENST00000369908.5	-	13	1655	c.1356C>T	c.(1354-1356)cgC>cgT	p.R452R	UCKL1_ENST00000369892.3_Silent_p.R467R|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000354216.6_Silent_p.R467R	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	18	42	0	62	467					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAGGAGCACGCGCACTGCCA	0.632000													1	1	1	1	1	1	0.999999	21	52	0	66	1	1	74	142	0	66	5
CHODL	140578	broad.mit.edu	37	21	19629084	19629084	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:19629084G>A	ENST00000299295.2	+	2	729	c.338G>A	c.(337-339)gGt>gAt	p.G113D	CHODL_ENST00000400127.1_Missense_Mutation_p.G72D|CHODL_ENST00000400128.1_Missense_Mutation_p.G72D|CHODL_ENST00000543733.1_Missense_Mutation_p.G94D|CHODL_ENST00000400135.1_Missense_Mutation_p.G72D|CHODL_ENST00000400131.1_Missense_Mutation_p.G72D|CHODL_ENST00000338326.3_Missense_Mutation_p.G72D	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	45	61	0	192	113	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		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)		CAAACATCTGGTGCCTGCCCA	0.507000													1	1	1	1	1	1	1.000000	50	79	0	215	1	6.406388e-01	5	0	0	215	5
KRTAP13-4	284827	broad.mit.edu	37	21	31802764	31802764	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:31802764G>T	ENST00000334068.2	+	1	193	c.171G>T	c.(169-171)gaG>gaT	p.E57D		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	40	38	0	136	57	4 X 10 AA approximate repeats.					intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CCTGCTGGGAGCCCGCCAGCT	0.617000													1	1	1	1	1	1	1.000000	43	40	0	139	0	0	0	0	0	139	5
BRWD1	54014	broad.mit.edu	37	21	40574467	40574467	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:40574467G>T	ENST00000342449.3	-	38	4447	c.4369C>A	c.(4369-4371)Ctc>Atc	p.L1457I	BRWD1_ENST00000333229.2_Missense_Mutation_p.L1457I|BRWD1_ENST00000380800.3_Missense_Mutation_p.L1457I	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	12	19	0	43	1457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCGGCTTGAGGTTTCTGGCC	0.358000													1	1	1	1	1	1	0.999686	12	20	0	44	0	0	0	0	0	44	5
TRPM2	7226	broad.mit.edu	37	21	45810891	45810891	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:45810891G>A	ENST00000397928.1	+	10	1868	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	TRPM2_ENST00000300481.9_Missense_Mutation_p.D475N|TRPM2_ENST00000300482.5_Missense_Mutation_p.D475N|TRPM2_ENST00000397932.2_Missense_Mutation_p.D475N|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	58	57	0	158	475						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GATCTTCATGGATGAGTGGCA	0.582000													1	1	1	1	1	1	1.000000	62	66	0	174	0	0	0	0	0	174	5
KRTAP10-4	386672	broad.mit.edu	37	21	45994016	45994016	+	Silent	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:45994016C>A	ENST00000400374.3	+	1	411	c.381C>A	c.(379-381)ccC>ccA	p.P127P	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	20	210	0	380	127	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCTGTGTGCCCGTCTGCTGTG	0.647000													1	0	1	1	0	1	0.999996	20	226	0	395	0	0	0	0	0	395	3
MICAL3	57553	broad.mit.edu	37	22	18364029	18364029	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:18364029A>T	ENST00000429452.1	-	17	2634	c.2282T>A	c.(2281-2283)gTg>gAg	p.V761E	MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.V761E|MICAL3_ENST00000444520.1_Intron	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	81	98	1	122	1248						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CAGGGTGATCACTTTTTTGGG	0.542000													1	0	1	1	1	1	1.000000	95	116	1	142	0	0	0	0	1	142	4
CLDN5	7122	broad.mit.edu	37	22	19511475	19511475	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:19511475C>T	ENST00000406028.1	-	2	1619	c.559G>A	c.(559-561)Gcg>Acg	p.A187T	CLDN5_ENST00000413119.2_Missense_Mutation_p.A187T|CLDN5_ENST00000403084.1_Missense_Mutation_p.A187T			O00501	CLD5_HUMAN	claudin 5	8	8	0	28	102					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					GTGCACTGCGCGCCCGCCAGG	0.736000													1	1	1	1	0	1	0.998141	9	8	0	28	0	9.781410e-01	0	10	0	28	4
GNB1L	0	broad.mit.edu	37	22	19776481	19776481	+	Silent	SNP	C	C	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:19776481C>G	ENST00000329517.6	-	8	971	c.735G>C	c.(733-735)gtG>gtC	p.V245V	GNB1L_ENST00000403325.1_Silent_p.V245V|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_5'UTR	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	26	58	0	89	245					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					GAGTCCCACGCACCTGTGAGA	0.642000													1	1	1	1	1	1	1.000000	28	70	0	96	1	9.999821e-01	27	23	0	96	5
ARVCF	421	broad.mit.edu	37	22	19959451	19959451	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:19959451G>A	ENST00000263207.3	-	18	3030	c.2739C>T	c.(2737-2739)ggC>ggT	p.G913G	ARVCF_ENST00000344269.3_Silent_p.G850G|ARVCF_ENST00000406259.1_Silent_p.G907G|ARVCF_ENST00000401994.1_Silent_p.G850G|ARVCF_ENST00000406522.1_Silent_p.G844G	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	22	40	0	80	913					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CAGAGCTGGCGCCCCGTGGCC	0.652000													1	1	1	1	1	1	1.000000	25	49	0	96	1	9.999819e-01	20	22	0	96	5
CCDC157	550631	broad.mit.edu	37	22	30771603	30771603	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:30771603A>G	ENST00000405659.1	+	10	2517	c.1808A>G	c.(1807-1809)cAa>cGa	p.Q603R	CCDC157_ENST00000338306.3_Missense_Mutation_p.Q603R|RP1-130H16.16_ENST00000332468.4_RNA			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	26	34	0	69	603										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GGGCGGCTCCAATCAATGCTG	0.617000													1	1	1	1	1	1	1.000000	28	40	0	75	1	1	38	47	0	75	5
EIF4ENIF1	56478	broad.mit.edu	37	22	31836101	31836101	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:31836101T>C	ENST00000397525.1	-	19	2946	c.2723A>G	c.(2722-2724)cAt>cGt	p.H908R	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.H884R|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.H563R|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.H734R|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.H908R	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	44	60	0	94	908						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCCTGGAGGATGCAGAACTGT	0.512000													1	1	1	1	1	1	1.000000	49	67	0	107	1	9.999998e-01	9	32	0	107	5
APOBEC3F	200316	broad.mit.edu	37	22	39441204	39441204	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:39441204G>A	ENST00000308521.5	+	3	787	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	36	51	0	88	149					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			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					AGGGGCCCGCGTGAAGATTAT	0.597000													1	1	1	1	1	1	1.000000	37	58	0	93	0	1.559015e-01	1	1	0	93	5
MGAT3	4248	broad.mit.edu	37	22	39883622	39883622	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:39883622C>T	ENST00000341184.6	+	2	485	c.270C>T	c.(268-270)gcC>gcT	p.A90A		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	36	57	0	82	90					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCAAGGCGGCCGAGGAGCTCC	0.701000													1	1	1	1	0	1	1.000000	38	65	0	88	0	0	0	0	0	88	4
L3MBTL2	83746	broad.mit.edu	37	22	41612173	41612173	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:41612173C>A	ENST00000216237.5	+	4	585	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000441316.1_RNA|RP4-756G23.5_ENST00000451176.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	13	25	0	41	143					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCCAAAGTCCTGCACAAGGC	0.557000													1	1	1	1	1	1	0.999825	13	26	0	43	1	7.933879e-01	5	3	0	43	5
RANGAP1	5905	broad.mit.edu	37	22	41654017	41654017	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:41654017G>A	ENST00000455915.2	-	6	2178	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	RANGAP1_ENST00000407260.4_Silent_p.L182L|RANGAP1_ENST00000405486.1_Silent_p.L237L|RANGAP1_ENST00000356244.3_Silent_p.L237L			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	35	36	0	83	237					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCCGCAGCAGGGGGTTGACA	0.627000													1	1	1	1	1	1	1.000000	35	39	0	84	1	1	25	24	0	84	5
TOB2	10766	broad.mit.edu	37	22	41833282	41833282	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:41833282C>T	ENST00000327492.3	-	2	774	c.68G>A	c.(67-69)cGc>cAc	p.R23H		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	39	38	0	89	23					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GTCTGCCCGGCGCCGGGGCAG	0.542000													1	1	1	1	1	1	1.000000	42	42	0	93	0	5.000000e-01	1	2	0	93	5
TTLL12	23170	broad.mit.edu	37	22	43570304	43570304	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:43570304G>A	ENST00000216129.6	-	8	1203	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	67	124	0	181	380	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GGCCCTCGGGGCCACCTGCCC	0.657000													1	1	1	1	1	1	1.000000	73	132	0	186	1	9.927917e-01	9	8	0	186	5
KIAA1644	85352	broad.mit.edu	37	22	44681537	44681537	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:44681537T>C	ENST00000381176.4	-	4	502	c.370A>G	c.(370-372)Aac>Gac	p.N124D		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	26	266	0	374	124						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ATGTCGTAGTTCATTGCCGAG	0.557000													1	1	1	1	0	1	1.000000	30	310	0	409	0	0	0	0	0	409	4
IL17REL	400935	broad.mit.edu	37	22	50436618	50436618	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:50436618G>A	ENST00000389983.2	-	10	986	c.722C>T	c.(721-723)cCg>cTg	p.P241L	IL17REL_ENST00000341280.5_Missense_Mutation_p.P241L	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	47	51	0	105	241										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		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)		gccggcccccggccccgggcg	0.682000													1	0	1	1	1	1	1.000000	51	59	0	113	0	0	0	0	0	113	4
MAPK8IP2	23542	broad.mit.edu	37	22	51043378	51043378	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:51043378G>A	ENST00000399908.2	+	3	1569	c.853G>A	c.(853-855)Gcg>Acg	p.A285T	MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.A256T|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.A550T|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.A171T|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.A285T	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	22	20	0	41	551	Ser-rich.				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			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		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)		GGAGGCGGGCGCGGCGCTGCT	0.682000													1	1	1	1	0	1	1.000000	23	22	0	42	0	0	0	1	0	42	4
PLCXD1	55344	broad.mit.edu	37	X	215973	215973	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:215973G>A	ENST00000381657.2	+	7	1457	c.943G>A	c.(943-945)Gcg>Acg	p.A315T	PLCXD1_ENST00000381663.3_Missense_Mutation_p.A315T|PLCXD1_ENST00000399012.1_Missense_Mutation_p.A315T	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	26	35	0	71	315					intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		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)				TGACGTCATCGCGCTCAATCA	0.617000													1	1	1	1	1	1	1.000000	29	40	0	76	1	9.998530e-01	13	12	0	76	5
ARSD	414	broad.mit.edu	37	X	2828698	2828698	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:2828698A>G	ENST00000381154.1	-	7	1211		c.e7+1			NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	18	236	0	258							lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		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)				TCCACAACTCACCTTTGTAAA	0.453000													1	1	1	1	0	1	1.000000	24	274	0	288	0	0	0	1	0	288	4
CLCN4	0	broad.mit.edu	37	X	10153098	10153098	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:10153098G>A	ENST00000380833.4	+	3	417	c.26G>A	c.(25-27)gGc>gAc	p.G9D	CLCN4_ENST00000421085.2_Intron|CLCN4_ENST00000380829.1_Missense_Mutation_p.G9D	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	5	107	0	125	9						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCGATGAGTGGCTCTGGAAAC	0.517000													1	0	1	1	0	1	0.981579	7	120	0	141	0	0	0	0	0	141	3
ARX	170302	broad.mit.edu	37	X	25031207	25031207	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:25031207G>T	ENST00000379044.4	-	2	1115	c.905C>A	c.(904-906)gCt>gAt	p.A302D		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	5	7	0	24	302						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CTTGCCCTCAGCGTCTTCCGG	0.697000													1	1	1	1	0	1	0.978551	6	7	0	26	0	0	0	0	0	26	4
CXorf21	80231	broad.mit.edu	37	X	30578299	30578299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:30578299G>T	ENST00000378962.3	-	3	496	c.174C>A	c.(172-174)tgC>tgA	p.C58*		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	101	134	0	264	58										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CAGATGATTTGCAGCTCACGT	0.468000													1	1	1	1	1	1	1.000000	106	147	0	297	0	0	0	0	0	297	5
CDK16	5127	broad.mit.edu	37	X	47085770	47085770	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:47085770C>T	ENST00000457458.2	+	9	1323	c.903C>T	c.(901-903)aaC>aaT	p.N301N	CDK16_ENST00000357227.4_Silent_p.N295N|CDK16_ENST00000518022.1_Silent_p.N295N|CDK16_ENST00000276052.6_Silent_p.N369N	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	17	20	0	51	295	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						TGCTCATCAACGAGAGGGGAG	0.587000													1	1	1	1	1	1	0.999998	18	23	0	54	1	1	86	120	0	54	5
SSX5	6758	broad.mit.edu	37	X	48047159	48047159	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:48047159T>C	ENST00000311798.1	-	8	650	c.598A>G	c.(598-600)Agg>Ggg	p.R200G	SSX5_ENST00000376923.1_Missense_Mutation_p.R159G|SSX5_ENST00000347757.1_Missense_Mutation_p.R159G	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	129	202	0	377	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TGTTTCCCCCTTTTGGGTCCT	0.478000													1	1	1	1	1	1	1.000000	144	225	0	417	0	0	0	0	0	417	5
CCNB3	85417	broad.mit.edu	37	X	50085296	50085296	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:50085296A>G	ENST00000376042.1	+	9	3910	c.3612A>G	c.(3610-3612)caA>caG	p.Q1204Q	CCNB3_ENST00000376038.1_Silent_p.Q100Q|CCNB3_ENST00000276014.7_Silent_p.Q1204Q|CCNB3_ENST00000348603.2_Silent_p.Q100Q			Q8WWL7	CCNB3_HUMAN	cyclin B3	43	62	0	110	1204					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATAAGTTACAACTCCTTGGTG	0.468000													1	1	1	1	1	1	1.000000	46	63	0	115	0	0	0	0	0	115	5
BMP15	9210	broad.mit.edu	37	X	50659512	50659512	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:50659512T>C	ENST00000252677.3	+	2	1084	c.1084T>C	c.(1084-1086)Tat>Cat	p.Y362H		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	45	60	0	148	362					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCCGTATAAGTATGTTCCAAT	0.463000													1	1	1	1	1	1	1.000000	47	61	0	152	0	0	0	0	0	152	5
KDM5C	8242	broad.mit.edu	37	X	53247577	53247577	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:53247577G>T	ENST00000375401.3	-	3	764	c.232C>A	c.(232-234)Cag>Aag	p.Q78K	KDM5C_ENST00000375379.3_Missense_Mutation_p.Q78K|KDM5C_ENST00000375383.3_Intron|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q78K	NM_004187.3	NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	24	48	0	82	78					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			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ACTCTCGTCTGGGCCTGAAGA	0.512000			N, F, S		clear cell renal carcinoma								1	0	1	1	1	1	1.000000	31	53	0	87	1	7.124279e-01	2	4	0	87	4
TRO	7216	broad.mit.edu	37	X	54948702	54948702	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:54948702G>T	ENST00000173898.7	+	2	135	c.23G>T	c.(22-24)gGa>gTa	p.G8V	TRO_ENST00000319167.8_Missense_Mutation_p.G8V|TRO_ENST00000420798.2_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.G8V|TRO_ENST00000399736.1_Missense_Mutation_p.G8V|TRO_ENST00000484031.1_3'UTR|TRO_ENST00000375041.2_Missense_Mutation_p.G8V	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	8	11	0	27	8					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AATGACTACGGATATAGGGTG	0.532000													1	1	1	1	1	1	0.997387	9	13	0	29	0	0	0	0	0	29	5
FAAH2	158584	broad.mit.edu	37	X	57337042	57337042	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:57337042A>G	ENST00000374900.4	+	3	412	c.292A>G	c.(292-294)Aag>Gag	p.K98E		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	20	30	0	54	98				K -> R (in Ref. 1; BAB71007).		integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GGAAGCGATGAAGGAGGCTCA	0.393000										HNSCC(52;0.14)			1	1	1	1	1	1	1.000000	24	34	0	57	0	0	0	0	0	57	5
HDAC8	55869	broad.mit.edu	37	X	71787851	71787851	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:71787851A>T	ENST00000439122.2	-	4	611	c.325T>A	c.(325-327)Ttt>Att	p.F109I	HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.F109I|HDAC8_ENST00000373571.1_Missense_Mutation_p.F109I|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373573.3_Missense_Mutation_p.F109I|HDAC8_ENST00000373560.2_Missense_Mutation_p.F109I|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373559.4_Intron|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373554.1_Missense_Mutation_p.F109I|HDAC8_ENST00000373556.3_Missense_Mutation_p.F109I	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	34	64	0	106	109	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			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	GCATAGTCAAATATCCCTTCA	0.478000													1	1	1	1	1	1	1.000000	35	69	0	108	0	9.984878e-01	1	22	0	108	5
SLC16A2	6567	broad.mit.edu	37	X	73740968	73740968	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:73740968A>G	ENST00000276033.5	+	2	962	c.797_splice	c.e2+1	p.S266_splice	SLC16A2_ENST00000587091.1_Splice_Site_p.S192_splice			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	50	56	0	114	192						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	CTCCTTCACCAGGTAAGGCTA	0.517000													1	1	1	1	1	1	1.000000	57	66	0	125	0	0	1	0	0	125	5
KIAA2022	340533	broad.mit.edu	37	X	73960123	73960123	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:73960123G>A	ENST00000373468.1	-	3	4920	c.4269C>T	c.(4267-4269)cgC>cgT	p.R1423R	KIAA2022_ENST00000055682.5_Silent_p.R1423R			Q5QGS0	K2022_HUMAN	KIAA2022	59	73	0	163	1423					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			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGAAGGTAGAGCGAGAGTCCT	0.443000													1	1	1	1	1	1	1.000000	60	80	0	170	0	0	0	0	0	170	5
MAGEE1	57692	broad.mit.edu	37	X	75649801	75649801	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:75649801A>C	ENST00000361470.2	+	1	1756	c.1478A>C	c.(1477-1479)cAg>cCg	p.Q493P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	38	43	0	85	493	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTATGGAACAGAACGTAGCT	0.493000													1	1	1	1	1	1	1.000000	46	49	0	90	0	0	0	0	0	90	5
ATRX	546	broad.mit.edu	37	X	76889125	76889125	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:76889125T>C	ENST00000373344.5	-	18	5099	c.4885A>G	c.(4885-4887)Aat>Gat	p.N1629D	ATRX_ENST00000395603.3_Missense_Mutation_p.N1591D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	26	41	0	72	1629	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	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAAGCAGTATTAAGAGGACAA	0.343000			Mis, F, N		Pancreatic neuroendocrine tumors, paediatric GBM		ATR-X (alpha thalassemia/mental retardation) syndrome						1	1	1	1	1	1	1.000000	28	44	0	77	0	3.423898e-01	0	3	0	77	5
BRWD3	254065	broad.mit.edu	37	X	79973119	79973119	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:79973119C>T	ENST00000373275.4	-	19	2400	c.2184G>A	c.(2182-2184)gcG>gcA	p.A728A	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	56	88	0	157	728										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCTGCTCCACGCCATGAGAT	0.393000													1	1	1	1	1	1	1.000000	65	102	0	175	0	0	0	0	0	175	5
CYLC1	1538	broad.mit.edu	37	X	83129489	83129489	+	Silent	SNP	A	A	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:83129489A>G	ENST00000329312.4	+	4	1810	c.1773A>G	c.(1771-1773)aaA>aaG	p.K591K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	32	25	0	63	591					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCAATGAAAAAGGGGAAAAAG	0.418000													1	1	1	1	1	1	1.000000	34	29	0	67	0	0	0	0	0	67	5
RPA4	29935	broad.mit.edu	37	X	96139445	96139445	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:96139445G>A	ENST00000373040.3	+	1	539	c.136G>A	c.(136-138)Gtt>Att	p.V46I	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	38	40	0	115	46					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						AATTCAGGACGTTGTACCGTG	0.498000								Other identified genes with known or suspected DNA repair function					1	1	1	1	1	1	1.000000	44	42	0	125	0	0	0	0	0	125	5
ARMCX2	9823	broad.mit.edu	37	X	100911796	100911796	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:100911796G>A	ENST00000328766.5	-	5	1232	c.779C>T	c.(778-780)aCc>aTc	p.T260I	ARMCX2_ENST00000356824.4_Missense_Mutation_p.T260I|ARMCX2_ENST00000330154.2_Missense_Mutation_p.T260I	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	47	102	0	192	260	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGCCCCAGGGGTTGCTTTCTT	0.602000													1	1	1	1	1	1	1.000000	52	113	0	202	0	9.999998e-01	0	57	0	202	5
SLC25A53	401612	broad.mit.edu	37	X	103349203	103349203	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:103349203C>A	ENST00000357421.4	-	2	918	c.738G>T	c.(736-738)caG>caT	p.Q246H		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	24	48	0	132	246					transport	integral to membrane|mitochondrial inner membrane											TTGGCATGTTCTGCCATCCAA	0.527000													1	1	1	1	1	1	1.000000	24	51	0	136	0	0	0	0	0	136	5
ESX1	80712	broad.mit.edu	37	X	103495020	103495020	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:103495020C>T	ENST00000372588.4	-	4	1193	c.1110G>A	c.(1108-1110)ccG>ccA	p.P370P		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	27	37	0	89	370	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P370P(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGCCATGGGCGGCCCGGGTG	0.697000													1	1	1	1	0	1	1.000000	28	37	0	81	0	0	0	0	0	81	4
MORC4	79710	broad.mit.edu	37	X	106184836	106184836	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:106184836C>T	ENST00000355610.4	-	17	2961	c.2687G>A	c.(2686-2688)cGt>cAt	p.R896H	MORC4_ENST00000255495.7_Silent_p.T883T|MORC4_ENST00000535534.1_Silent_p.T631T	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	19	38	0	102	896							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GACGTGGATACGTAGCCGCGT	0.498000													1	1	1	1	1	1	1.000000	23	44	0	116	1	9.989811e-01	26	0	0	116	5
RBM41	55285	broad.mit.edu	37	X	106332030	106332030	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:106332030T>C	ENST00000372487.1	-	5	589	c.563A>G	c.(562-564)aAc>aGc	p.N188S	RBM41_ENST00000203616.8_Missense_Mutation_p.N212S|RBM41_ENST00000372479.3_Missense_Mutation_p.N188S	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	31	45	0	104	188							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						ACTTTCCAGGTTGTTCATGGG	0.408000													1	1	1	1	1	1	1.000000	36	51	0	112	0	0	1	0	0	112	5
COL4A6	1288	broad.mit.edu	37	X	107420159	107420159	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:107420159G>A	ENST00000394872.2	-	28	2832	c.2601C>T	c.(2599-2601)ggC>ggT	p.G867G	COL4A6_ENST00000372216.4_Silent_p.G867G|COL4A6_ENST00000334504.7_Silent_p.G866G|COL4A6_ENST00000538570.1_Silent_p.G866G|COL4A6_ENST00000545689.1_Silent_p.G866G			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	89	164	0	222	867	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTCCAGGAAGGCCTTTTAGCC	0.532000									Alport syndrome with Diffuse Leiomyomatosis				1	1	1	1	1	1	1.000000	97	183	0	240	0	0	0	0	0	240	5
RGAG1	57529	broad.mit.edu	37	X	109694816	109694816	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:109694816T>C	ENST00000465301.2	+	3	1217	c.971T>C	c.(970-972)cTa>cCa	p.L324P	RGAG1_ENST00000540313.1_Missense_Mutation_p.L324P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	36	364	0	612	324										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TCCACACCGCTACTGTCAGTC	0.502000													1	0	1	1	1	1	1.000000	50	419	0	667	0	0	0	0	0	667	4
LUZP4	51213	broad.mit.edu	37	X	114536597	114536597	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:114536597T>C	ENST00000451986.2	+	2	165	c.5T>C	c.(4-6)cTg>cCg	p.L2P	LUZP4_ENST00000371920.3_Silent_p.A44A			Q9P127	LUZP4_HUMAN	leucine zipper protein 4	52	94	0	205	0						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GGACAAATGCTGAAGAAGAAA	0.333000													1	1	1	1	1	1	1.000000	54	98	0	216	0	0	0	0	0	216	5
HS6ST2	90161	broad.mit.edu	37	X	132092544	132092544	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:132092544G>A	ENST00000370836.2	-	2	502	c.87C>T	c.(85-87)cgC>cgT	p.R29R	HS6ST2_ENST00000521489.1_Silent_p.R29R	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	12	13	0	29	29						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TGGAATGCCGGCGGGGACAGG	0.711000													1	1	1	1	0	1	0.999914	13	13	0	32	0	0	0	0	0	32	4
RBMX	27316	broad.mit.edu	37	X	135960091	135960091	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:135960091G>A	ENST00000562646.1	-	4	525	c.371C>T	c.(370-372)tCa>tTa	p.S124L	RBMX_ENST00000565438.1_5'UTR|RBMX_ENST00000570135.1_Intron|RBMX_ENST00000320676.7_Missense_Mutation_p.S124L|RBMX_ENST00000431446.3_Intron			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	36	52	0	89	124						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCCTCCCCGTGAGGGAGGTCC	0.547000													1	1	1	1	1	1	1.000000	45	60	0	96	0	1	1	116	0	96	5
ATP11C	286410	broad.mit.edu	37	X	138882232	138882232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:138882232C>A	ENST00000370557.1	-	8	1724	c.697G>T	c.(697-699)Gag>Tag	p.E233*	ATP11C_ENST00000359686.2_Nonsense_Mutation_p.E236*|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.E236*|ATP11C_ENST00000327569.3_Nonsense_Mutation_p.E236*|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.E236*			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	35	68	0	127	236					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GCAACAGCCTCAAGACTATTA	0.368000													1	1	1	1	1	1	1.000000	42	83	0	136	0	0	0	0	0	136	5
PASD1	139135	broad.mit.edu	37	X	150840935	150840935	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:150840935A>C	ENST00000370357.4	+	14	1963	c.1718A>C	c.(1717-1719)aAg>aCg	p.K573T		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	31	39	0	88	573						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					cagccactgaagcaTAATGTC	0.522000													1	1	1	1	1	1	1.000000	34	42	0	99	0	0	0	0	0	99	5
GABRE	2564	broad.mit.edu	37	X	151123932	151123932	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:151123932C>T	ENST00000370325.1	-	8	1098	c.1045G>A	c.(1045-1047)Gtc>Atc	p.V349I	GABRE_ENST00000370328.3_Missense_Mutation_p.V349I|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	57	60	0	221	349					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			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCAGAAGACGAAGCAGATG	0.488000													1	1	1	1	1	1	1.000000	64	69	0	241	0	0	0	0	0	241	5
MAGEA12	4111	broad.mit.edu	37	X	151900216	151900216	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:151900216G>A	ENST00000393900.3	-	3	938	c.585C>T	c.(583-585)atC>atT	p.I195I	MAGEA12_ENST00000393869.3_Silent_p.I195I|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Silent_p.I195I	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	99	136	0	361	195	MAGE.							p.I195I(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGCACGATCTGATTGT	0.577000													1	1	1	1	1	1	1.000000	102	146	0	380	0	0	0	0	0	380	5
CETN2	1069	broad.mit.edu	37	X	151997817	151997817	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:151997817G>A	ENST00000370277.3	-	3	233	c.167C>T	c.(166-168)gCa>gTa	p.A56V	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	15	41	0	77	56	EF-hand 1.				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			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTCATTGCCACCTATAA	0.393000								Direct reversal of damage;Nucleotide excision repair (NER)					1	1	1	1	1	1	0.999972	16	47	0	89	0	9.999872e-01	1	69	0	89	5
SLC6A8	6535	broad.mit.edu	37	X	152960290	152960290	+	Silent	SNP	C	C	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:152960290C>T	ENST00000253122.5	+	12	2189	c.1713C>T	c.(1711-1713)tgC>tgT	p.C571C	SLC6A8_ENST00000430077.2_Silent_p.C456C|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	11	19	0	52	571					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CCATGCTGTGCGTGCCGCTGC	0.662000													1	0	1	1	0	1	0.999298	11	20	0	54	1	1	292	259	0	54	3
L1CAM	3897	broad.mit.edu	37	X	153129471	153129471	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153129471G>A	ENST00000370060.1	-	26	3513	c.3322_splice	c.e26-1	p.G1108_splice	L1CAM_ENST00000370057.3_Splice_Site_p.G1108_splice|L1CAM_ENST00000370055.1_Splice_Site_p.G1103_splice|L1CAM_ENST00000361981.3_Splice_Site_p.G1103_splice|L1CAM_ENST00000361699.4_Splice_Site_p.G1108_splice|L1CAM_ENST00000543994.1_Splice_Site_p.G1110_splice|L1CAM_ENST00000538883.1_Splice_Site_p.G1110_splice	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	23	37	0	47	1108	Fibronectin type-III 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	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)					GCCTCACGCGGCCTGAGGGTG	0.637000													1	1	1	1	1	1	1.000000	26	38	0	51	1	9.960639e-01	15	2	0	51	5
ARHGAP4	393	broad.mit.edu	37	X	153179298	153179298	+	Silent	SNP	G	G	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153179298G>A	ENST00000370028.3	-	9	1245	c.1188C>T	c.(1186-1188)gaC>gaT	p.D396D	ARHGAP4_ENST00000393721.1_Silent_p.D178D|ARHGAP4_ENST00000370016.1_Silent_p.D335D|ARHGAP4_ENST00000350060.5_Silent_p.D356D|ARHGAP4_ENST00000537206.1_Silent_p.D333D	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	23	37	0	56	356					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	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)					GCAGAATCTCGTCCCGCAGCT	0.652000													1	1	1	1	1	1	1.000000	29	48	0	62	0	1.471519e-01	0	2	0	62	5
NAA10	8260	broad.mit.edu	37	X	153196294	153196294	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	T	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153196294A>T	ENST00000464845.1	-	7	711	c.393T>A	c.(391-393)agT>agA	p.S131R	NAA10_ENST00000370009.1_Missense_Mutation_p.S116R|NAA10_ENST00000393712.3_Missense_Mutation_p.S131R|NAA10_ENST00000370015.4_Missense_Mutation_p.S131R	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	64	98	0	177	131	N-acetyltransferase.				DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GCTCCACTTCACTGATCCTGG	0.587000													1	1	1	1	1	1	1.000000	71	113	0	189	0	1	0	444	0	189	5
FLNA	0	broad.mit.edu	37	X	153588429	153588429	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153588429C>A	ENST00000422373.1	-	22	3982	c.3734G>T	c.(3733-3735)aGc>aTc	p.S1245I	FLNA_ENST00000360319.4_Missense_Mutation_p.S1245I|FLNA_ENST00000369850.3_Missense_Mutation_p.S1245I|FLNA_ENST00000344736.4_Missense_Mutation_p.S1245I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	47	58	0	113	1245					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)					CTGCAGCTTGCTGGGGAAGTT	0.632000													1	1	1	1	1	1	1.000000	51	63	0	117	1	9.982033e-01	6	10	0	117	5
G6PD	2539	broad.mit.edu	37	X	153762334	153762334	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:153762334T>C	ENST00000393562.2	-	7	1159	c.776A>G	c.(775-777)aAc>aGc	p.N259S	G6PD_ENST00000369620.2_Missense_Mutation_p.N229S|G6PD_ENST00000393564.2_Missense_Mutation_p.N229S	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	39	69	0	123	229					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	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)					GCAGGCGATGTTGTCCCGGTT	0.587000													1	1	1	1	1	1	1.000000	41	78	0	126	0	9.997644e-01	0	29	0	126	5
RPL22	6146	broad.mit.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:6257785delT	ENST00000234875.4	-	2	82	c.44delA	c.(43-45)agfs	p.K16fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	15	21	0	43	16					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	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)		AACTTGCTTCTTTTTTTTGCC	0.398000			T	RUNX1	AML, CML								1	0	1	1	0	1	0.999952	15	36	0	43	1	1	471	2212	0	43	3
ERRFI1	54206	broad.mit.edu	37	1	8074168	8074169	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:8074168_8074169delAG	ENST00000377482.5	-	4	713_714	c.490_491delCT	c.(490-492)gfs	p.L164fs	ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	49	64	0	145	164					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			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	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)		TGTGTCATCCAGAGAGAGGGCT	0.475000													1	1	1	1	0	1	1.000000	49	113	0	153	0	5.869580e-01	1	5	0	153	4
SPSB1	80176	broad.mit.edu	37	1	9416315	9416315	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:9416315delC	ENST00000328089.6	+	2	706	c.365delC	c.(364-366)gcfs	p.A122fs	SPSB1_ENST00000357898.3_Frame_Shift_Del_p.A122fs|SPSB1_ENST00000377399.2_Frame_Shift_Del_p.A122fs	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	38	58	0	122	122	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		ACGGCAGACGCCCCCCTGCAC	0.657000													1	1	1	1	0	1	1.000000	38	99	0	126	0	0	0	1	0	126	4
DNAJC16	23341	broad.mit.edu	37	1	15873320	15873321	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:15873320_15873321delAT	ENST00000375847.3	+	6	982_983	c.818_819delAT	c.(817-819)cfs	p.H273fs	DNAJC16_ENST00000375838.1_Frame_Shift_Del_p.H273fs|DNAJC16_ENST00000375849.1_Frame_Shift_Del_p.H273fs	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	39	76	0	72	273					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		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)		AATAAGCCTCATGTCCTTCTGT	0.327000													1	1	1	1	0	1	1.000000	39	116	0	72							4
EIF4G3	8672	broad.mit.edu	37	1	21183946	21183946	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:21183946delC	ENST00000602326.1	-	23	3722	c.3139delG	c.(3139-3141)ccfs	p.A1047fs	EIF4G3_ENST00000536266.1_Frame_Shift_Del_p.A645fs|EIF4G3_ENST00000537738.1_Frame_Shift_Del_p.A531fs|EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.A1041fs|EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.A761fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.A1047fs|EIF4G3_ENST00000264211.8_Frame_Shift_Del_p.A1041fs	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	146	248	0	327	1041					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			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		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)		CTGTTCTTGGCCCCTTGTACA	0.463000													1	0	0	1	0	1	1.000000	146	404	0	339	0	8.951813e-01	1	12	0	339	2
ARID1A	8289	broad.mit.edu	37	1	27057936	27057937	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:27057936_27057937insC	ENST00000324856.7	+	3	2015_2016	c.1644_1645insC	c.(1642-1647)caccccfs	p.HP548fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.HP548fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.HP165fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	168	237	0	441	548					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)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		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	0.649000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC								1	1	0	1	0	1	1.000000	168	420	0	457	0	3.546052e-13	0	1	0	457	3
ARID1A	8289	broad.mit.edu	37	1	27106804	27106804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:27106804delC	ENST00000324856.7	+	20	6786	c.6415delC	c.(6415-6417)ccfs	p.P2140fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.P1923fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.P1757fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.P468fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	63	88	1	165	2140					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.F2141fs*59(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		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)		TCTGGCCACACCCCCCTTCAG	0.587000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC								1	0	0	1	0	1	1.000000	63	156	1	168	1	9.999782e-01	16	36	1	168	2
SZT2	23334	broad.mit.edu	37	1	43909340	43909340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:43909340delC	ENST00000562955.1	+	61	8527	c.8527delC	c.(8527-8529)ccfs	p.P2844fs	SZT2_ENST00000372442.1_Frame_Shift_Del_p.P2002fs	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	58	108	0	201	2901						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GGATGTGTCGCCCCCGGGAGC	0.577000													1	1	1	1	0	1	1.000000	58	169	0	204	1	8.116428e-01	2	9	0	204	4
C8A	731	broad.mit.edu	37	1	57373743	57373743	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:57373743delG	ENST00000361249.3	+	9	1433	c.1337delG	c.(1336-1338)tgfs	p.W446fs		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	36	38	0	105	446	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TACCGTTCCTGGGGGAGGTCA	0.483000													1	1	1	1	0	1	1.000000	36	76	0	105							4
DAB1	1600	broad.mit.edu	37	1	57537235	57537235	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:57537235delT	ENST00000371236.2	-	6	781	c.518delA	c.(517-519)agfs	p.K173fs	DAB1_ENST00000371234.4_Frame_Shift_Del_p.K173fs|DAB1_ENST00000371230.1_Frame_Shift_Del_p.K173fs|DAB1_ENST00000420954.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000414851.2_Frame_Shift_Del_p.K173fs|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Frame_Shift_Del_p.K173fs			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	17	43	0	75	173	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTTTGTGCCTTTTTTTCTAA	0.393000													1	1	1	1	0	1	0.999984	17	61	0	80							4
NEXN	91624	broad.mit.edu	37	1	78408251	78408251	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:78408251delA	ENST00000330010.8	+	12	1870	c.1573delA	c.(1573-1575)aafs	p.K525fs	NEXN_ENST00000457030.1_Frame_Shift_Del_p.K575fs|NEXN_ENST00000334785.7_Frame_Shift_Del_p.K589fs|NEXN_ENST00000480732.1_3'UTR	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	29	55	0	90	589	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAGCCTCTTAAAAACACATC	0.438000													1	1	1	1	0	1	1.000000	29	87	0	90							4
HFM1	164045	broad.mit.edu	37	1	91845795	91845796	+	Splice_Site	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:91845795_91845796insA	ENST00000370425.3	-	8	972		c.e8-2		HFM1_ENST00000294696.5_Splice_Site|HFM1_ENST00000370424.3_Splice_Site	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	21	44	0	68								ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		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)		GTAAAGAAGCTAAAAAATAAAA	0.282000													1	1	1	1	0	1	0.999999	21	68	0	71							4
HIAT1	64645	broad.mit.edu	37	1	100534122	100534122	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:100534122delT	ENST00000370152.3	+	7	935	c.799delT	c.(799-801)ttfs	p.F268fs	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	62	86	0	110	268					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		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)		ATATTCCAGCTTTTTTTTATA	0.388000													1	0	0	1	0	1	1.000000	62	152	0	114	0	8.602151e-02	0	2	0	114	2
PI4KB	5298	broad.mit.edu	37	1	151265430	151265432	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			CTC	-	CTC	CTC		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:151265430_151265432delCTC	ENST00000368875.2	-	13	2963_2965	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PI4KB_ENST00000368874.4_In_Frame_Del_p.E768del|PI4KB_ENST00000368873.1_In_Frame_Del_p.E783del|PI4KB_ENST00000271657.5_In_Frame_Del_p.E795del|PI4KB_ENST00000368872.1_In_Frame_Del_p.E768del|PI4KB_ENST00000529142.1_In_Frame_Del_p.E451del	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	36	52	0	80	783					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			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	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)			GCTGCAGCTGCTCCTCAGTCATG	0.542000													1	1	1	1	0	1	1.000000	37	88	0	83	1	1	14	66	0	83	4
CRTC2	200186	broad.mit.edu	37	1	153923897	153923898	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:153923897_153923898insG	ENST00000368633.1	-	11	1369_1370	c.1242_1243insC	c.(1240-1245)cccttafs	p.PL414fs	CRTC2_ENST00000368630.3_Frame_Shift_Ins_p.PL94fs	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	8	18	0	33	414					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	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)			GCAGGGTAAGAGGGGGCGCCCA	0.673000													1	1	1	1	0	1	0.992313	8	27	0	33	1	9.923134e-01	5	30	0	33	4
NES	10763	broad.mit.edu	37	1	156642804	156642804	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:156642804delG	ENST00000368223.3	-	4	1308	c.1176delC	c.(1174-1176)ccfs	p.P392fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	115	191	0	172	392	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			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGAGGTGTGGGGGGGATGG	0.597000													1	1	1	1	0	1	1.000000	115	316	0	173	0	7.222145e-02	0	2	0	173	4
PRCC	5546	broad.mit.edu	37	1	156761535	156761536	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:156761535_156761536insC	ENST00000271526.4	+	4	1402_1403	c.1130_1131insC	c.(1129-1131)gccfs	p.A377fs	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Intron	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	38	74	1	116	377					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.Q380fs*12(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCTGGTCCCCCCCCAGG	0.530000			T	TFE3	papillary renal								1	0	0	1	0	1	1.000000	38	116	1	117	1	9.999983e-01	18	85	1	117	2
TRIM17	51127	broad.mit.edu	37	1	228596779	228596779	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:228596779delC	ENST00000456946.2	-	6	1352	c.977delG	c.(976-978)gtfs	p.G326fs	RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000295033.3_Intron	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	21	25	1	57	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S327fs*8(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				ACTTGTAGAACCCCCCCCATT	0.567000													1	0	0	1	0	1	0.999750	21	47	1	58	1	9.571562e-01	5	15	1	58	2
ARV1	64801	broad.mit.edu	37	1	231131567	231131567	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:231131567delA	ENST00000310256.2	+	4	567	c.510delA	c.(508-510)gcfs	p.A170fs	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	30	39	0	49	170					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCATGACGGCAAAAAAAAAGC	0.383000													0	0	1	1	0	1	1.000000	30	72	0	49	1	9.999891e-01	2	40	0	49	2
OR2W3	343171	broad.mit.edu	37	1	248059733	248059733	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr1:248059733delC	ENST00000537741.1	+	3	1102	c.845delC	c.(844-846)acfs	p.T282fs	OR2W3_ENST00000360358.3_Frame_Shift_Del_p.T282fs			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	36	36	1	81	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L284fs*14(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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)			AACATTGTCACCCCCCTCCTC	0.507000													1	0	0	1	0	1	1.000000	36	75	1	86							2
ROCK2	9475	broad.mit.edu	37	2	11332603	11332603	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:11332603delT	ENST00000315872.6	-	31	4371	c.3923delA	c.(3922-3924)agfs	p.K1308fs	ROCK2_ENST00000401753.1_Frame_Shift_Del_p.K1065fs	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	32	60	0	93	1308	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			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AATCTCCTCCTTTTTGTCCAT	0.388000													1	1	1	1	0	1	1.000000	32	93	0	96	0	4.865656e-01	1	5	0	96	4
RAD51AP2	729475	broad.mit.edu	37	2	17698825	17698825	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:17698825delT	ENST00000399080.2	-	1	881	c.858delA	c.(856-858)aafs	p.K286fs		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	16	25	0	55	286										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CATATGCCTCTTTTTTGTCAT	0.353000													1	1	1	1	0	1	0.999974	16	44	0	56							4
MAPRE3	22924	broad.mit.edu	37	2	27248517	27248517	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:27248517delC	ENST00000233121.2	+	5	734	c.536delC	c.(535-537)gcfs	p.A179fs	MAPRE3_ENST00000405074.3_Frame_Shift_Del_p.A164fs|MAPRE3_ENST00000402218.1_Frame_Shift_Del_p.A164fs			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	34	57	0	81	179					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	p.C182fs*16(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCAATGTGGCCCCCCCCTGC	0.562000													1	1	0	1	0	1	1.000000	34	97	0	83	1	9.895265e-01	4	20	0	83	3
ZFP36L2	678	broad.mit.edu	37	2	43452260	43452260	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:43452260delC	ENST00000282388.3	-	2	976	c.683delG	c.(682-684)gcfs	p.G228fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	14	29	0	31	228					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCCGGAggcgccccccgacgg	0.706000													1	1	1	1	0	1	0.999874	14	47	0	32	0	1.474359e-01	0	3	0	32	4
MSH6	2956	broad.mit.edu	37	2	48030640	48030640	+	Frame_Shift_Del	DEL	C	C	-	rs63750431		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:48030640delC	ENST00000234420.4	+	5	3406	c.3254delC	c.(3253-3255)acfs	p.T1085fs	MSH6_ENST00000538136.1_Frame_Shift_Del_p.T783fs|MSH6_ENST00000540021.1_Frame_Shift_Del_p.T955fs|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	26	31	0	74	1085					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	p.0?(2)|p.F1088fs*5(1)|p.F1088fs*2(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCGGAAGATACCCCCCCCTTC	0.438000			Mis, N, F, S		colorectal	colorectal, endometrial, ovarian		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				1	1	0	1	0	1	1.000000	26	57	0	76	1	1	10	68	0	76	3
SNRNP27	11017	broad.mit.edu	37	2	70131463	70131463	+	Frame_Shift_Del	DEL	T	T	-	rs79372020		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:70131463delT	ENST00000409116.1	+	5	452	c.426delT	c.(424-426)gafs	p.D142fs	SNRNP27_ENST00000244227.3_3'UTR			Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	19	43	0	56	0					mRNA processing|RNA splicing	nucleus	nucleic acid binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						TGAAGGATGATTTTTTTTCCC	0.348000													1	0	0	1	0	1	0.999996	19	63	0	59	1	1	36	138	0	59	2
ASPRV1	151516	broad.mit.edu	37	2	70188284	70188284	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:70188284delG	ENST00000320256.4	-	1	1113	c.537delC	c.(535-537)ccfs	p.P179fs		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	46	46	0	62	179					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	p.P179P(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						GCAGGTGGCTGGGGGCAGCCC	0.587000													1	1	1	1	0	1	1.000000	46	94	0	63	1	4.032702e-01	2	2	0	63	4
C2orf42	54980	broad.mit.edu	37	2	70392681	70392682	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:70392681_70392682insT	ENST00000264434.2	-	7	1609_1610	c.1230_1231insA	c.(1228-1233)aaggctfs	p.A411fs	C2orf42_ENST00000420306.1_Frame_Shift_Ins_p.A411fs	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	28	51	0	66	411										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TTGGGGAGCCGTTTTTTTGCAC	0.406000													1	1	1	1	0	1	1.000000	28	80	0	67	0	5.822670e-01	1	6	0	67	4
FBXO41	150726	broad.mit.edu	37	2	73490910	73490910	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:73490910delC	ENST00000521871.1	-	8	2386	c.1971delG	c.(1969-1971)ggfs	p.G657fs	FBXO41_ENST00000520530.2_Frame_Shift_Del_p.G657fs|FBXO41_ENST00000295133.5_Frame_Shift_Del_p.G718fs			Q8TF61	FBX41_HUMAN	F-box protein 41	11	98	0	95	657						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TCAGCAGGTTCCCCCCAGCTG	0.637000													1	0	1	0	0	1	0.998589	11	111	0	95	0	8.815171e-14	0	1	0	95	2
INO80B	83444	broad.mit.edu	37	2	74684948	74684949	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:74684948_74684949insG	ENST00000233331.7	+	5	1122_1123	c.1028_1029insG	c.(1027-1029)cggfs	p.R343fs		NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	30	50	0	59	343					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						CAGATGCGGCTGGGGGGGCCCG	0.653000													1	1	0	1	0	1	1.000000	30	83	0	62	1	1	28	116	0	62	3
WBP1	23559	broad.mit.edu	37	2	74687410	74687410	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:74687410delC	ENST00000393972.3	+	5	717	c.514delC	c.(514-516)ccfs	p.P174fs	WBP1_ENST00000409737.1_Frame_Shift_Del_p.P137fs|WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000233615.2_Frame_Shift_Del_p.P140fs			Q96G27	WBP1_HUMAN	WW domain binding protein 1	89	122	1	171	140							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						AGGCACACCACCCCCCCCTTA	0.582000													1	0	0	1	0	1	1.000000	89	217	1	183	1	1	109	328	1	183	2
AMER3	205147	broad.mit.edu	37	2	131520225	131520225	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:131520225delG	ENST00000423981.1	+	2	690	c.580delG	c.(580-582)ggfs	p.G195fs	AMER3_ENST00000321420.4_Frame_Shift_Del_p.G195fs	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3	37	45	1	95																		GTCAGACCCTGGGGGGCGGCG	0.672000													1	0	0	1	0	1	1.000000	37	83	1	96							2
NCKAP5	344148	broad.mit.edu	37	2	133543031	133543031	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:133543031delG	ENST00000409261.1	-	14	1726	c.1353delC	c.(1351-1353)ccfs	p.P451fs	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P451fs|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	23	16	0	70	451							protein binding	p.C452fs*21(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGTTTTGCAGGGGGGATACT	0.463000													1	1	1	1	0	1	1.000000	23	39	0	71							4
R3HDM1	23518	broad.mit.edu	37	2	136409480	136409482	+	In_Frame_Del	DEL	CCT	CCT	-	rs139457585		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:136409480_136409482delCCT	ENST00000264160.4	+	17	2171_2173	c.1801_1803delCCT	c.(1801-1803)del	p.P605del	R3HDM1_ENST00000410054.1_In_Frame_Del_p.P550del|R3HDM1_ENST00000409478.1_In_Frame_Del_p.P477del|R3HDM1_ENST00000409606.1_In_Frame_Del_p.P606del|R3HDM1_ENST00000329971.3_In_Frame_Del_p.P476del	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	36	66	0	112	605	Poly-Pro.						nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		accaccaccacctcctcctcctc	0.586000													1	1	1	1	0	1	1.000000	36	102	0	118							4
LRP1B	53353	broad.mit.edu	37	2	141819647	141819648	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:141819647_141819648insT	ENST00000389484.3	-	8	2179_2180	c.1208_1209insA	c.(1207-1209)aagfs	p.K403fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	33	72	0	154	403					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		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)		CAGTGTGTCTATTTTTTCCTTG	0.391000										TSP Lung(27;0.18)			1	1	1	1	0	1	1.000000	33	106	0	154							4
ACVR2A	92	broad.mit.edu	37	2	148683686	148683686	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:148683686delA	ENST00000241416.7	+	10	1939	c.1303delA	c.(1303-1305)aafs	p.K437fs	ACVR2A_ENST00000535787.1_Frame_Shift_Del_p.K329fs|ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.K437fs|ACVR2A_ENST00000495775.1_3'UTR	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	45	63	0	96	437	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	p.K437fs*5(3)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGTTGTGCATAAAAAAAAGAG	0.368000													1	1	0	1	0	1	1.000000	45	109	0	100	1	8.341313e-01	4	6	0	100	3
PLA2R1	0	broad.mit.edu	37	2	160801442	160801442	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:160801442delT	ENST00000283243.7	-	28	4325	c.4119delA	c.(4117-4119)aafs	p.K1373fs	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	65	92	0	181	1373	C-type lectin 8.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATATAAAGCCTTTTTTTTCTT	0.403000													1	0	0	1	0	1	1.000000	65	158	0	188	0	2.087846e-01	1	2	0	188	2
GRB14	2888	broad.mit.edu	37	2	165350964	165350964	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:165350964delT	ENST00000263915.3	-	13	1991	c.1453delA	c.(1453-1455)tafs	p.I485fs	GRB14_ENST00000543549.1_Frame_Shift_Del_p.I398fs|GRB14_ENST00000497306.1_Intron	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	25	46	0	83	485	SH2.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AAGTGCTTTATTTTTTGTCCA	0.333000													1	1	1	1	0	1	1.000000	25	72	0	85	1	1	23	128	0	85	4
LRP2	4036	broad.mit.edu	37	2	169997025	169997025	+	Frame_Shift_Del	DEL	G	G	-	rs80338754		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:169997025delG	ENST00000263816.3	-	72	13424	c.13139delC	c.(13138-13140)cafs	p.P4380fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	22	37	0	74	4380	EGF-like 17.				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			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				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)	GCACCTGCATGGGGGGGGCAG	0.532000													1	1	0	1	0	1	1.000000	22	61	0	76							3
DFNB59	494513	broad.mit.edu	37	2	179325760	179325760	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:179325760delT	ENST00000409117.3	+	7	1174	c.818delT	c.(817-819)ctfs	p.L273fs	DFNB59_ENST00000375129.4_Frame_Shift_Del_p.L273fs	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	20	145	0	170	273					sensory perception of sound			p.L273P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TTGGATGATCTTTTTTCTGAC	0.348000													1	0	1	1	0	1	0.999997	20	167	0	171	0	1.391418e-01	1	4	0	171	3
DNAH7	56171	broad.mit.edu	37	2	196788373	196788374	+	Frame_Shift_Ins	INS	-	-	T	rs34468832		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:196788373_196788374insT	ENST00000312428.6	-	23	3870_3871	c.3770_3771insA	c.(3769-3771)aatfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	21	44	0	73	1257	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CATCGCTAATATTTTTTTTTAC	0.421000													0	1	1	1	0	1	0.999999	21	66	0	74							3
BZW1	9689	broad.mit.edu	37	2	201683505	201683505	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:201683505delA	ENST00000409600.1	+	9	1302	c.847delA	c.(847-849)aafs	p.K284fs	BZW1_ENST00000409226.1_Frame_Shift_Del_p.K288fs|BZW1_ENST00000452790.2_Frame_Shift_Del_p.K316fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	18	48	0	66	284	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						GGAGGAGATGAAAAAAAACAA	0.368000													1	1	1	1	0	1	0.999992	18	69	0	67	0	9.800740e-01	0	28	0	67	4
ORC2	4999	broad.mit.edu	37	2	201785020	201785021	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:201785020_201785021delAG	ENST00000234296.2	-	15	1639_1640	c.1390_1391delCT	c.(1390-1392)tfs	p.L465fs		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	31	58	0	63	465					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						CTTTACCAGAAGAGAGTTCTCA	0.426000													1	1	1	1	0	1	1.000000	31	91	0	65	1	9.466322e-01	4	13	0	65	4
GPR1	2825	broad.mit.edu	37	2	207041592	207041592	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:207041592delA	ENST00000407325.2	-	3	742	c.380delT	c.(379-381)tcfs	p.F127fs	GPR1_ENST00000437420.1_Frame_Shift_Del_p.F127fs	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	51	60	0	156	127						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		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)		CACTGTCAGGAAAAAAACACT	0.458000													1	1	1	1	0	1	1.000000	51	117	0	159							4
MTERFD2	130916	broad.mit.edu	37	2	242038902	242038903	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr2:242038902_242038903delCA	ENST00000391980.2	-	2	486_487	c.428_429delTG	c.(427-429)gfs	p.V144fs	MTERFD2_ENST00000407095.3_Frame_Shift_Del_p.V144fs|MTERFD2_ENST00000495694.1_Frame_Shift_Del_p.V144fs|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	78	122	1	167	144										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		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)		TCTTCAAGACCACACACACAGG	0.450000													1	0	0	1	0	1	1.000000	79	200	1	172	0	7.709656e-01	0	9	1	172	2
CNTN6	27255	broad.mit.edu	37	3	1371501	1371501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:1371501delA	ENST00000446702.2	+	11	1873	c.1246delA	c.(1246-1248)aafs	p.K418fs	CNTN6_ENST00000539053.1_Frame_Shift_Del_p.K346fs|CNTN6_ENST00000350110.2_Frame_Shift_Del_p.K418fs			Q9UQ52	CNTN6_HUMAN	contactin 6	23	44	0	97	418	Ig-like C2-type 5.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.K418fs*63(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		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)		AAGTCCAGTTAAAAAAAAGTC	0.393000													1	1	1	1	0	1	1.000000	23	68	0	99							4
COL8A1	1295	broad.mit.edu	37	3	99513775	99513775	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:99513775delC	ENST00000261037.3	+	5	1410	c.1030delC	c.(1030-1032)ccfs	p.P345fs	COL8A1_ENST00000273342.4_Frame_Shift_Del_p.P345fs	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	20	34	0	54	345	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GCTACCAGGACCCCCAGGCCT	0.622000													1	1	1	1	0	1	0.999999	20	58	0	57							4
CCDC80	151887	broad.mit.edu	37	3	112357095	112357095	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:112357095delT	ENST00000206423.3	-	2	2611	c.1658delA	c.(1657-1659)agfs	p.K553fs	CCDC80_ENST00000439685.2_Frame_Shift_Del_p.K553fs	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	12	27	0	48	553	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						attcttcatcttttttttctt	0.398000													1	1	1	1	0	1	0.999497	12	40	0	48	0	1.510101e-01	0	3	0	48	4
MCM2	4171	broad.mit.edu	37	3	127323896	127323896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:127323896delC	ENST00000265056.7	+	4	814	c.570delC	c.(568-570)ggfs	p.G190fs		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	37	84	0	183	190	Interaction with MYST2 (By similarity).				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(2)|stomach(1)	6						GCATGGCGGGCCCCCGGCTGG	0.622000													1	1	1	1	0	1	1.000000	37	123	0	188	0	2.374365e-01	0	4	0	188	4
IFT122	55764	broad.mit.edu	37	3	129207227	129207227	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:129207227delA	ENST00000296266.3	+	17	2324	c.2132delA	c.(2131-2133)gafs	p.E711fs	IFT122_ENST00000349441.2_Frame_Shift_Del_p.E549fs|IFT122_ENST00000431818.2_Frame_Shift_Del_p.E510fs|IFT122_ENST00000440957.2_Frame_Shift_Del_p.E451fs|IFT122_ENST00000348417.2_Frame_Shift_Del_p.E660fs|IFT122_ENST00000507564.1_Frame_Shift_Del_p.E652fs|IFT122_ENST00000347300.2_Frame_Shift_Del_p.E601fs|IFT122_ENST00000504021.1_Frame_Shift_Del_p.E554fs	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	29	45	0	94	660					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TTAGATTTTGAAACAGCAAAG	0.522000													1	1	1	1	0	1	1.000000	29	75	0	96	0	7.000386e-01	0	8	0	96	4
ASTE1	28990	broad.mit.edu	37	3	130743461	130743461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:130743461delG	ENST00000264992.3	-	3	1131	c.690delC	c.(688-690)ccfs	p.P230fs	ASTE1_ENST00000514044.1_Frame_Shift_Del_p.P230fs	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	27	86	0	129	230					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TCTCCATGATGGGTAGATTAA	0.448000													1	1	1	1	0	1	1.000000	27	115	0	129	0	3.888889e-02	0	2	0	129	4
GRK7	131890	broad.mit.edu	37	3	141499234	141499234	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr3:141499234delA	ENST00000264952.2	+	2	768	c.631delA	c.(631-633)aafs	p.K211fs		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	16	25	0	48	211	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CGTCCAGGTGAAAAACACTGG	0.458000													1	1	1	1	0	1	0.999975	16	41	0	49							4
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:79238582_79238583insC	ENST00000264895.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1881)accfs	p.T627fs	FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	41	52	0	114	627					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574000													1	1	1	1	0	1	1.000000	41	98	0	116							4
INTS12	57117	broad.mit.edu	37	4	106604358	106604360	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			TGT	-	TGT	TGT		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:106604358_106604360delTGT	ENST00000451321.2	-	7	1398_1400	c.919_921delACA	c.(919-921)del	p.T307del	INTS12_ENST00000340139.5_In_Frame_Del_p.T307del|INTS12_ENST00000394735.1_In_Frame_Del_p.T307del	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	34	65	0	101	307	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TCAATTTTGCTGTTGAAGGACCA	0.458000													1	1	1	1	0	1	1.000000	34	103	0	100	1	9.954856e-01	2	27	0	100	4
ZNF330	27309	broad.mit.edu	37	4	142143531	142143532	+	Frame_Shift_Ins	INS	-	-	A	rs148880005		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:142143531_142143532insA	ENST00000262990.4	+	2	234_235	c.6_7insA	c.(4-9)ccaaaafs	p.PK2fs	ZNF330_ENST00000421169.2_5'UTR	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	8	14	0	42	2						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	p.K5fs*18(1)		kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GGAAAATGCCTAAAAAAAAGAC	0.356000													1	0	0	1	0	1	0.992692	8	23	0	43	1	9.926918e-01	10	21	0	43	2
LRBA	987	broad.mit.edu	37	4	151749479	151749479	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:151749479delT	ENST00000535741.1	-	30	5497	c.5024delA	c.(5023-5025)acfs	p.N1675fs	LRBA_ENST00000507224.1_Frame_Shift_Del_p.N1675fs|LRBA_ENST00000510413.1_Frame_Shift_Del_p.N1675fs|LRBA_ENST00000357115.3_Frame_Shift_Del_p.N1675fs			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	29	65	0	106	1675						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CACATTGACGTTTTTTGAAAC	0.448000													1	1	1	1	0	1	1.000000	29	97	0	109							4
FBXO8	26269	broad.mit.edu	37	4	175160263	175160263	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr4:175160263delA	ENST00000393674.2	-	5	1516	c.654delT	c.(652-654)ttfs	p.F218fs	FBXO8_ENST00000503293.1_Frame_Shift_Del_p.F177fs	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	23	28	0	49	218	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		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)		GGATATGACGAAAAAATTCTC	0.388000													1	1	1	1	0	1	1.000000	23	53	0	49	1	9.955639e-01	2	22	0	49	4
SLCO4C1	353189	broad.mit.edu	37	5	101627312	101627313	+	Splice_Site	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:101627312_101627313insA	ENST00000310954.6	-	2	642		c.e2-2			NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	17	25	0	34						cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		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)		CTACAATACCTAAAAAACAGAA	0.312000													1	1	1	1	0	1	0.999988	17	44	0	35							4
WDR55	54853	broad.mit.edu	37	5	140049102	140049102	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140049102delA	ENST00000358337.5	+	7	1252	c.1015delA	c.(1015-1017)aafs	p.K341fs	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176.2	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	19	20	0	46	341					rRNA processing	cytoplasm|nucleolus		p.K341fs*8(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTCGGCGCAAAAAAAAGGG	0.592000													1	1	1	1	0	1	0.999998	19	39	0	47	1	9.999413e-01	10	30	0	47	4
PCDHB14	0	broad.mit.edu	37	5	140604308	140604309	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr5:140604308_140604309delAG	ENST00000239449.4	+	1	1231_1232	c.1231_1232delAG	c.(1231-1233)afs	p.R411fs	PCDHB14_ENST00000515856.2_Frame_Shift_Del_p.R258fs	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		99	106	0	239	411	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCACTGGACAGAGAGAGCCAA	0.470000													1	1	1	1	0	1	1.000000	99	208	0	244	0	3.902325e-01	0	4	0	244	4
TUBB2B	347733	broad.mit.edu	37	6	3225652	3225653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			-	C	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:3225652_3225653insC	ENST00000259818.7	-	4	861_862	c.670_671insG	c.(670-672)cctfs	p.P224fs	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	109	196	0	299	224					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GTGGTTGAGGTCCCCGTAGGTG	0.614000													1	1	1	1	0	1	1.000000	43	310	0	305	0	9.999967e-01	0	138	0	305	4
DSP	1832	broad.mit.edu	37	6	7583793	7583793	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:7583793delT	ENST00000379802.3	+	24	6639	c.6298delT	c.(6298-6300)ttfs	p.F2100fs	DSP_ENST00000418664.2_Frame_Shift_Del_p.F1501fs	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	200	146	0	230	2100	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGATCCATTTTCAGGCAA	0.468000													1	1	1	1	0	1	1.000000	200	354	0	237							4
POLH	5429	broad.mit.edu	37	6	43550104	43550104	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:43550104delT	ENST00000372236.4	+	2	343	c.48delT	c.(46-48)tgfs	p.C16fs	POLH_ENST00000372226.1_Frame_Shift_Del_p.C16fs|POLH_ENST00000535400.1_Intron	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	127	132	0	163	16	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(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	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)			ACATGGACTGTTTTTTTGTTC	0.408000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				1	1	0	1	0	1	1.000000	127	266	0	166	0	1.055619e-01	0	2	0	166	3
MYO6	4646	broad.mit.edu	37	6	76599858	76599858	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:76599858delA	ENST00000369981.3	+	26	3022	c.2743delA	c.(2743-2745)aafs	p.K917fs	MYO6_ENST00000369975.1_Frame_Shift_Del_p.K917fs|MYO6_ENST00000369977.3_Frame_Shift_Del_p.K917fs|MYO6_ENST00000369985.4_Frame_Shift_Del_p.K917fs			Q9UM54	MYO6_HUMAN	myosin VI	31	81	0	141	917					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	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TGCATTACAGAAAAAAAAACA	0.383000													0	1	0	1	0	1	1.000000	31	117	0	147	0	4.423963e-02	0	2	0	147	2
PHIP	55023	broad.mit.edu	37	6	79711725	79711726	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:79711725_79711726insA	ENST00000275034.4	-	17	1936_1937	c.1769_1770insT	c.(1768-1770)tgtfs	p.C590fs		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	37	90	0	68	590					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			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		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)		CAACATCAACCAAAAAAGGGGG	0.426000													1	1	1	1	0	1	1.000000	37	130	0	68							4
TTK	7272	broad.mit.edu	37	6	80751897	80751897	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:80751897delA	ENST00000509894.1	+	22	3378	c.2549delA	c.(2548-2550)gafs	p.E850fs	TTK_ENST00000369798.2_Frame_Shift_Del_p.E851fs|TTK_ENST00000230510.3_Frame_Shift_Del_p.E850fs			P33981	TTK_HUMAN	TTK protein kinase	57	7	0	49	851					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	p.R838fs*4(3)|p.R838fs*>4(2)|p.R838fs*>5(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		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)		AAGACTTTTGAAAAAAAAAGG	0.299000													0	1	0	1	0	1	1.000000	57	66	0	51	1	1	54	225	0	51	2
ZNF292	23036	broad.mit.edu	37	6	87970974	87970974	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:87970974delA	ENST00000369577.3	+	8	7670	c.7627delA	c.(7627-7629)aafs	p.K2544fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.K2539fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	36	39	0	57	2544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		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)		CTCACAAAATAAAAAAAGGAA	0.358000													1	1	1	1	0	1	1.000000	36	76	0	58	1	9.835668e-01	4	13	0	58	4
MARCKS	4082	broad.mit.edu	37	6	114181729	114181730	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:114181729_114181730insC	ENST00000368635.4	+	2	1354_1355	c.973_974insC	c.(973-975)cccfs	p.P325fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	89	61	1	103	325					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		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)		CAGTCCAGAAGCCCCCCCAGCG	0.644000													1	0	0	1	0	1	1.000000	89	150	1	107	1	1	40	101	1	107	2
SYNE1	23345	broad.mit.edu	37	6	152539540	152539540	+	Splice_Site	DEL	T	T	-	rs35128811		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:152539540delT	ENST00000367255.5	-	121	22646		c.e121-2		SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	147	163	2	248						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			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTCCAGCCTTTTTTTCCAC	0.343000										HNSCC(10;0.0054)			1	0	0	1	0	1	1.000000	147	325	2	254							2
EZR	7430	broad.mit.edu	37	6	159188477	159188477	+	Frame_Shift_Del	DEL	G	G	-	rs139613796		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:159188477delG	ENST00000367075.3	-	13	1580	c.1412delC	c.(1411-1413)cgfs	p.P476fs	EZR_ENST00000337147.7_Frame_Shift_Del_p.P476fs|EZR_ENST00000392177.4_Frame_Shift_Del_p.P444fs	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	76	65	0	113	476	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		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		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	0.597000			T	ROS1	NSCLC								1	1	1	1	0	1	1.000000	76	169	0	133	1	1	6	84	0	133	4
IGF2R	3482	broad.mit.edu	37	6	160485488	160485488	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:160485488delG	ENST00000356956.1	+	28	4090	c.3942delG	c.(3940-3942)acfs	p.T1314fs		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	82	209	0	182	1314					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			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TGAACTTCACGGGGGGGGACA	0.502000													1	1	0	1	0	1	1.000000	82	304	0	189	0	1.989579e-01	1	3	0	189	3
AGPAT4	56895	broad.mit.edu	37	6	161560589	161560589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr6:161560589delG	ENST00000320285.4	-	8	1119	c.907delC	c.(907-909)ggfs	p.R304fs	AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	102	90	4	133	304					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.R303fs*7(2)|p.R303fs*60(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAGGGCCGCCGGGGGGGCACC	0.627000													1	0	0	1	0	1	1.000000	102	197	4	142	1	9.999465e-01	13	41	4	142	2
ANLN	54443	broad.mit.edu	37	7	36461586	36461588	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:36461586_36461588delCTT	ENST00000265748.2	+	13	2505_2507	c.2284_2286delCTT	c.(2284-2286)del	p.L764del	ANLN_ENST00000396068.2_In_Frame_Del_p.L727del	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	36	50	0	49	764	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGCAGAAAGACTTCTTCTAATTG	0.379000													1	1	1	1	0	1	1.000000	36	86	0	50	0	5.721418e-01	1	5	0	50	4
BRAF	673	broad.mit.edu	37	7	140482927	140482927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:140482927delG	ENST00000288602.6	-	10	1268	c.1208delC	c.(1207-1209)ctfs	p.P403fs		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	15	28	0	46	403					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		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TAATGAGGCAGGGGGGGTAGC	0.428000		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				1	1	1	1	0	1	0.999942	15	45	0	46	0	0	0	1	0	46	4
CHPF2	54480	broad.mit.edu	37	7	150935414	150935415	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:150935414_150935415insG	ENST00000035307.2	+	4	3479_3480	c.1966_1967insG	c.(1966-1968)gggfs	p.G656fs	CHPF2_ENST00000495645.1_Frame_Shift_Ins_p.G648fs	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	16	17	0	29	656	Gly/Pro-rich.					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGACCCCTCCCGGGGGGCTCCT	0.678000													1	1	1	1	0	1	0.999980	16	33	0	30	1	1	27	109	0	30	4
KMT2C	58508	broad.mit.edu	37	7	151873588	151873588	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr7:151873588delA	ENST00000355193.2	-	38	9168	c.8950delT	c.(8950-8952)ctfs	p.S2984fs	KMT2C_ENST00000262189.6_Frame_Shift_Del_p.S2984fs					lysine (K)-specific methyltransferase 2C	28	23	0	35																		ACACCCTGAGAAAAAACATGG	0.473000													1	1	1	1	0	1	1.000000	28	54	0	37							4
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aafs	p.K107fs	MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	97	60	0	90	107						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274000													0	1	1	1	0	1	1.000000	97	166	0	95	0	6.047651e-01	1	3	0	95	3
SPAG11B	10407	broad.mit.edu	37	8	7308689	7308690	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:7308689_7308690insG	ENST00000297498.2	-	3	412_413	c.246_247insC	c.(244-249)cccattfs	p.I83fs	SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000458665.1_Intron|SPAG11B_ENST00000528168.1_Frame_Shift_Ins_p.I30fs|SPAG11B_ENST00000398462.2_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	77	62	0	139	83					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		ATCCTAAATGAGGGTCCTCGAG	0.460000													1	1	1	1	0	1	1.000000	77	140	0	141							4
PSD3	23362	broad.mit.edu	37	8	18729144	18729145	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:18729144_18729145insTC	ENST00000440756.2	-	3	1331_1332	c.1229_1230insGA	c.(1228-1230)gagfs	p.E410fs	PSD3_ENST00000327040.8_Frame_Shift_Ins_p.E410fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.E345fs			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	79	60	0	65	410					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACCTTTCCCTGTCTCTCTCTGG	0.450000													1	1	1	1	0	1	1.000000	79	143	0	65	0	2.129408e-13	0	1	0	65	4
NUGGC	389643	broad.mit.edu	37	8	27888776	27888776	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:27888776delT	ENST00000413272.2	-	15	2034	c.1892delA	c.(1891-1893)atfs	p.N631fs	NUGGC_ENST00000341513.6_Frame_Shift_Del_p.N631fs	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated	67	381	1	218																		GATCAGGAAATTTTTTTTGCA	0.453000													1	0	0	1	0	1	1.000000	67	462	1	222							2
GSR	2936	broad.mit.edu	37	8	30539472	30539473	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:30539472_30539473insG	ENST00000221130.5	-	11	1349_1350	c.1259_1260insC	c.(1258-1260)catfs	p.H420fs	GSR_ENST00000541648.1_Frame_Shift_Ins_p.H367fs|GSR_ENST00000414019.1_Frame_Shift_Ins_p.H377fs|GSR_ENST00000546342.1_Frame_Shift_Ins_p.H391fs|GSR_ENST00000537535.1_Frame_Shift_Ins_p.H338fs	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	25	119	0	90	420					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	CTGTCCCAATAGGGGGGTGGCT	0.441000													1	1	1	1	0	1	1.000000	25	146	0	91	0	8.918430e-01	1	24	0	91	4
ADAM32	203102	broad.mit.edu	37	8	39068767	39068767	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:39068767delA	ENST00000379907.4	+	12	1284	c.1157delA	c.(1156-1158)cafs	p.Q386fs	ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	9	29	0	18	386					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		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)			CCACAAATGCAAAAAAAATCT	0.383000													0	1	1	1	0	1	0.995711	9	40	0	18	0	1.805212e-01	0	3	0	18	3
AP3M2	10947	broad.mit.edu	37	8	42022614	42022614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:42022614delG	ENST00000518421.1	+	6	900	c.609delG	c.(607-609)cafs	p.Q203fs	AP3M2_ENST00000517922.1_Frame_Shift_Del_p.Q203fs|AP3M2_ENST00000396926.3_Frame_Shift_Del_p.Q203fs|AP3M2_ENST00000174653.3_Frame_Shift_Del_p.Q203fs|AP3M2_ENST00000520685.1_Intron	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	19	81	0	35	203	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	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)			CTGAGATCCAGGGGGTGATTG	0.443000													0	1	1	1	0	1	0.999995	19	103	0	37	0	3.768333e-01	0	8	0	37	3
PRKDC	5591	broad.mit.edu	37	8	48701554	48701555	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:48701554_48701555insT	ENST00000314191.2	-	77	10867_10868	c.10811_10812insA	c.(10810-10812)aatfs	p.N3604fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Ins_p.N3604fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	21	117	0	57	3605					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			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TTTTTTCAATGTTTTTTTTATT	0.401000								Non-homologous end-joining					1	1	1	1	0	1	0.999999	21	141	0	58	1	9.309161e-01	3	30	0	58	4
SOX17	64321	broad.mit.edu	37	8	55371765	55371766	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:55371765_55371766insG	ENST00000297316.4	+	2	659_660	c.455_456insG	c.(454-456)gggfs	p.G152fs		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	18	9	0	42	152					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			AAGCGGGTGGAGGGCGGCTTCC	0.743000													1	0	1	1	0	1	0.999997	18	27	0	43	0	0	0	1	0	43	3
CHD7	55636	broad.mit.edu	37	8	61778453	61778454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:61778453_61778454insG	ENST00000423902.2	+	38	9434_9435	c.8955_8956insG	c.(8953-8958)gaggggfs	p.EG2985fs	CHD7_ENST00000524602.1_Frame_Shift_Ins_p.EG936fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	16	15	0	26	2985					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			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		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)			ACTCACTTGATGGGGGGGATGA	0.446000													1	1	1	1	0	1	0.999981	16	32	0	26	1	9.999987e-01	23	41	0	26	4
NCOA2	10499	broad.mit.edu	37	8	71056964	71056964	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:71056964delT	ENST00000452400.2	-	13	2906	c.2725delA	c.(2725-2727)gtfs	p.S909fs	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	42	95	0	76	909					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)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAGTAGGGACTACTGTTTCTG	0.468000			T	RUNXBP2, HEY1	AML, Chondrosarcoma								1	1	1	1	0	1	1.000000	42	141	0	77							4
ESRP1	54845	broad.mit.edu	37	8	95686611	95686611	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:95686611delA	ENST00000433389.2	+	12	1718	c.1528delA	c.(1528-1530)aafs	p.K511fs	ESRP1_ENST00000454170.2_Frame_Shift_Del_p.K511fs|ESRP1_ENST00000423620.2_Frame_Shift_Del_p.K511fs|ESRP1_ENST00000358397.5_Frame_Shift_Del_p.K511fs	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	46	135	0	93	511	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.N512fs*8(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GAAGTGTCATAAAAAAAACAT	0.438000													1	1	0	1	0	1	1.000000	46	187	0	96							3
ZFPM2	23414	broad.mit.edu	37	8	106815052	106815052	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:106815052delA	ENST00000407775.2	+	8	2992	c.2742delA	c.(2740-2742)atfs	p.I914fs	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Frame_Shift_Del_p.I782fs|ZFPM2_ENST00000517361.1_Frame_Shift_Del_p.I782fs|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Frame_Shift_Del_p.I645fs|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	38	20	0	46	914					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			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAAGCATAATAAAATGTGAGA	0.453000													1	1	1	1	0	1	1.000000	38	59	0	46	0	5.329071e-15	0	1	0	46	4
TRHR	7201	broad.mit.edu	37	8	110131317	110131317	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:110131317delT	ENST00000518632.1	+	3	1181	c.830delT	c.(829-831)ctfs	p.L278fs	TRHR_ENST00000311762.2_Frame_Shift_Del_p.L278fs			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	78	499	1	319	278						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTGTTTGCCCTTTTATGGATG	0.398000													1	0	0	1	0	1	1.000000	78	588	1	323							2
SQLE	6713	broad.mit.edu	37	8	126011893	126011893	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:126011893delC	ENST00000265896.5	+	1	1146	c.248delC	c.(247-249)tcfs	p.S83fs	SQLE_ENST00000523430.1_Intron	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	33	28	0	38	83					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	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)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TGGGCCAAATCCCCCCCTGAA	0.547000													1	1	1	1	0	1	1.000000	33	64	0	40	0	9.697365e-01	1	13	0	40	4
EPPK1	83481	broad.mit.edu	37	8	144947314	144947314	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:144947314delG	ENST00000525985.1	-	2	179	c.108delC	c.(106-108)ccfs	p.P36fs				P58107	EPIPL_HUMAN	epiplakin 1	36	116	0	53	36						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	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)			CCTGGGGCCTGGGGGGCGTGC	0.697000													1	1	1	1	0	1	1.000000	36	155	0	54							4
ARHGAP39	80728	broad.mit.edu	37	8	145773375	145773375	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr8:145773375delG	ENST00000276826.5	-	4	1296	c.1095delC	c.(1093-1095)ccfs	p.P365fs	ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.P365fs|ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.P365fs			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	20	49	0	33	365	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGCAGGGCGAGGGGGGGCCCT	0.701000													1	1	1	1	0	1	0.999998	20	69	0	34	0	2.875478e-14	0	1	0	34	4
TYRP1	7306	broad.mit.edu	37	9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acfs	p.TN352fs	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	13	21	0	45	352					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387000									Oculocutaneous Albinism				1	1	1	1	0	1	0.999789	13	33	0	45							4
ADAMTSL1	92949	broad.mit.edu	37	9	18829843	18829843	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:18829843delC	ENST00000380548.4	+	23	4456	c.4117delC	c.(4117-4119)ccfs	p.P1374fs	ADAMTSL1_ENST00000380545.5_Frame_Shift_Del_p.P75fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	35	47	0	96	1374						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTCACAGATCCCCCCCAAGT	0.567000													1	1	1	1	0	1	1.000000	35	86	0	97	0	3.153033e-14	0	1	0	97	4
NFX1	0	broad.mit.edu	37	9	33294897	33294897	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:33294897delA	ENST00000379540.3	+	2	567	c.505delA	c.(505-507)aafs	p.K170fs	NFX1_ENST00000379521.4_Frame_Shift_Del_p.K170fs|NFX1_ENST00000318524.6_Frame_Shift_Del_p.K170fs	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	30	61	0	115	170					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			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AGCAAAACCCAAAAAAGCAAC	0.483000													1	1	1	1	0	1	1.000000	30	92	0	116	1	6.256330e-01	2	4	0	116	4
ALDH1A1	216	broad.mit.edu	37	9	75545849	75545849	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:75545849delC	ENST00000297785.3	-	3	312	c.258delG	c.(256-258)ggfs	p.G86fs	ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Frame_Shift_Del_p.G86fs	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	51	84	0	141	86					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ATAATAGTCGCCCCCTCTCGG	0.498000													1	1	1	1	0	1	1.000000	51	138	0	142							4
SPATA31D1	389763	broad.mit.edu	37	9	84607691	84607692	+	Frame_Shift_Ins	INS	-	-	G	rs34942699		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:84607691_84607692insG	ENST00000344803.2	+	4	2353_2354	c.2306_2307insG	c.(2305-2307)gggfs	p.G769fs		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1	50	63	0	124																		ATGGAGAATGTGGGGAATTATC	0.480000													1	1	1	1	0	1	1.000000	46	114	0	126							4
UGCG	7357	broad.mit.edu	37	9	114695179	114695180	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:114695179_114695180insT	ENST00000374279.3	+	9	1537_1538	c.1087_1088insT	c.(1087-1089)tttfs	p.F363fs		NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	15	108	0	74	363					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity	p.I363V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	GACAATATACATTTTTTTGTCT	0.401000													1	0	1	1	0	1	0.999902	15	127	0	78	1	3.482291e-01	2	9	0	78	3
VAV2	7410	broad.mit.edu	37	9	136633624	136633626	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			CAC	-	CAC	CAC		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:136633624_136633626delCAC	ENST00000371851.1	-	27	2822_2824	c.2497_2499delGTG	c.(2497-2499)del	p.V833del	VAV2_ENST00000406606.3_In_Frame_Del_p.V804del|VAV2_ENST00000371850.3_In_Frame_Del_p.V843del			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	31	81	0	113	843	SH3 2.				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			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TGTAGATCCTCACCACGTCACCC	0.650000													1	1	1	1	0	1	1.000000	32	111	0	118	1	9.957286e-01	4	29	0	118	4
QSOX2	169714	broad.mit.edu	37	9	139107074	139107074	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr9:139107074delG	ENST00000358701.5	-	10	1323	c.1286delC	c.(1285-1287)cgfs	p.P429fs		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	17	42	0	59	429	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GAGAGAACACGGGTAACCCCT	0.458000													1	1	1	1	0	1	0.999984	17	59	0	60	0	1.387537e-01	1	2	0	60	4
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:890939delT	ENST00000316157.3	-	5	527	c.487delA	c.(487-489)cafs	p.T163fs		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	48	63	0	57	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AATTCCAATGTTTTTTTAAGT	0.353000													1	1	1	1	0	1	1.000000	48	113	0	59	0	0	0	1	0	59	4
RBM17	84991	broad.mit.edu	37	10	6139070	6139070	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:6139070delA	ENST00000446108.1	+	2	686	c.42delA	c.(40-42)tcfs	p.S14fs	RBM17_ENST00000379888.4_Frame_Shift_Del_p.S14fs	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	52	121	0	167	14					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CCAGTGACTCAAAAACAGAAG	0.463000													1	1	1	1	0	1	1.000000	52	175	0	168	1	9.998224e-01	11	36	0	168	4
OPTN	10133	broad.mit.edu	37	10	13151192	13151192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:13151192delC	ENST00000378748.3	+	4	432	c.70delC	c.(70-72)ccfs	p.P25fs	OPTN_ENST00000378747.3_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378764.2_Frame_Shift_Del_p.P25fs|OPTN_ENST00000378752.3_Frame_Shift_Del_p.P25fs|OPTN_ENST00000263036.5_Frame_Shift_Del_p.P25fs|OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000378757.2_Frame_Shift_Del_p.P25fs	NM_001008211.1|NM_001008213.1	NP_001008212.1|NP_001008214.1	Q96CV9	OPTN_HUMAN	optineurin	83	97	0	223	25					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			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGGAAATGGACCCCCCCACCT	0.557000													1	0	0	1	0	1	1.000000	83	181	0	228	0	3.764116e-01	0	4	0	228	2
KIAA1217	56243	broad.mit.edu	37	10	24832391	24832391	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:24832391delG	ENST00000376451.2	+	14	3501	c.3241delG	c.(3241-3243)ggfs	p.G1081fs	KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000376454.3_Frame_Shift_Del_p.G1398fs|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000396445.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	39	49	0	96	1398					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCTTTCCAGTGGGGAGGTGCA	0.458000													1	1	1	1	0	1	1.000000	39	92	0	96	0	0	0	1	0	96	4
ARHGAP21	57584	broad.mit.edu	37	10	24874838	24874838	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:24874838delT	ENST00000396432.2	-	26	4866	c.4380delA	c.(4378-4380)aafs	p.K1460fs		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	70	123	0	190	1459					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCTCACTTTCTTTTTTGGACT	0.393000													1	1	1	1	0	1	1.000000	68	205	0	191	0	5.550627e-01	0	7	0	191	4
GPR158	57512	broad.mit.edu	37	10	25861746	25861746	+	Frame_Shift_Del	DEL	G	G	-	rs138208272		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:25861746delG	ENST00000376351.3	+	7	2042	c.1683delG	c.(1681-1683)cafs	p.Q561fs		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	23	38	0	63	561						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTATTGGCCAGGGGAAAACAT	0.453000													1	1	1	1	0	1	1.000000	23	62	0	65							4
C10orf68	79741	broad.mit.edu	37	10	33018277	33018277	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:33018277delA	ENST00000375030.2	+	13	1360	c.742delA	c.(742-744)aafs	p.K250fs	C10orf68_ENST00000375028.3_Frame_Shift_Del_p.K218fs|C10orf68_ENST00000375025.4_Frame_Shift_Del_p.K242fs			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	17	41	0	56	242										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTTAGAAATCAAAAAAAAGGA	0.323000													1	1	0	1	0	1	0.999984	17	59	0	57							3
C10orf54	64115	broad.mit.edu	37	10	73511467	73511467	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:73511467delG	ENST00000394957.3	-	6	914	c.856delC	c.(856-858)tgfs	p.L286fs	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	22	71	0	71	286						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GGAGGAGACAGGGGGGTGCTG	0.617000													1	1	1	1	0	1	0.999999	22	98	0	73	0	3.678529e-02	0	2	0	73	4
MYOZ1	58529	broad.mit.edu	37	10	75393728	75393728	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:75393728delT	ENST00000359322.4	-	5	962	c.598delA	c.(598-600)tgfs	p.M200fs		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	44	136	0	120	200					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					CCAAGTTCCATTTTTTGCTGG	0.517000													1	1	1	1	0	1	1.000000	44	185	0	121							4
PTEN	5728	broad.mit.edu	37	10	89717674	89717675	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:89717674_89717675insC	ENST00000371953.3	+	7	2056_2057	c.699_700insC	c.(697-702)cggggafs	p.RG233fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	38	105	0	114	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.0?(37)|p.R55fs*1(5)|p.R234fs*11(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R234fs*24(1)|p.G165_*404del(1)|p.?(1)|p.R234fs*10(1)|p.R233fs*10(1)|p.R234fs*27(1)|p.R234W(1)|p.R234fs*23(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R234fs*3(1)|p.R234fs*26(1)|p.R234fs*4(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		GACCCACACGACGGGAAGACAA	0.416000		31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	1	1	1	0	1	1.000000	41	151	0	117	1	1	8	118	0	117	4
HELLS	3070	broad.mit.edu	37	10	96352051	96352051	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:96352051delA	ENST00000348459.5	+	16	1938	c.1833delA	c.(1831-1833)ctfs	p.L611fs	HELLS_ENST00000239026.6_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000371332.4_Frame_Shift_Del_p.L657fs|HELLS_ENST00000394045.1_Frame_Shift_Del_p.L513fs|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	31	32	1	49	611	Helicase C-terminal.				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			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TGCCAGAACTAAAAAAAAGAG	0.313000													1	0	0	1	0	1	0.999995	31	63	1	52	1	9.935900e-01	8	22	1	52	2
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	60	135	0	96	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363000													1	1	1	1	0	1	1.000000	60	198	0	100	0	4.262658e-01	0	6	0	100	4
BTRC	8945	broad.mit.edu	37	10	103310573	103310573	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:103310573delC	ENST00000370187.3	+	14	1892	c.1774delC	c.(1774-1776)ccfs	p.P593fs	BTRC_ENST00000393441.4_Frame_Shift_Del_p.P552fs|BTRC_ENST00000493877.1_3'UTR|BTRC_ENST00000408038.2_Frame_Shift_Del_p.P557fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	35	138	1	119	593					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCAAGCTGAACCCCCCCGTTC	0.433000													1	0	0	1	0	1	0.999998	35	174	1	122	1	9.573869e-01	5	33	1	122	2
SORCS3	22986	broad.mit.edu	37	10	106976790	106976790	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:106976790delG	ENST00000369701.3	+	19	2871	c.2644delG	c.(2644-2646)tgfs	p.V882fs	SORCS3_ENST00000369699.4_Frame_Shift_Del_p.V168fs	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	32	67	0	120	882	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		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)		CATCAAGCACGTGTATAAGAG	0.517000													1	1	1	1	0	1	1.000000	32	101	0	121							4
TCF7L2	6934	broad.mit.edu	37	10	114900983	114900984	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:114900983_114900984insC	ENST00000545257.1	+	6	1100_1101	c.593_594insC	c.(592-594)cccfs	p.P198fs	TCF7L2_ENST00000543371.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000369397.4_Frame_Shift_Ins_p.P175fs|TCF7L2_ENST00000534894.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000355995.4_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000355717.4_Frame_Shift_Ins_p.P222fs|TCF7L2_ENST00000369395.1_Frame_Shift_Ins_p.P223fs|TCF7L2_ENST00000536810.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000349937.2_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000538897.1_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000352065.5_Frame_Shift_Ins_p.P175fs|TCF7L2_ENST00000542695.1_5'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	40	132	0	183	198	Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CACCATGTCCACCCCCTCACGC	0.569000			T	VTI1A	colorectal								1	1	1	1	0	1	1.000000	40	175	0	188	0	0	0	1	0	188	4
ATRNL1	26033	broad.mit.edu	37	10	117226764	117226765	+	Splice_Site	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr10:117226764_117226765insA	ENST00000355044.3	+	23	3622		c.e23+2		ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Splice_Site	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	14	34	0	35							integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		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)		GTTCAACAGGTAAAAAAATGTT	0.287000													1	1	1	1	0	1	0.999871	14	49	0	35	0	1.394426e-01	0	3	0	35	4
OR51E1	143503	broad.mit.edu	37	11	4674217	4674217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:4674217delG	ENST00000396952.5	+	2	1111	c.461delG	c.(460-462)cgfs	p.R154fs	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	45	71	1	161	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A155fs*3(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTGTGGTGCGGGGGGCTGCA	0.557000													1	0	0	1	0	1	1.000000	45	117	1	163	0	0	0	1	1	163	2
KCNA4	3739	broad.mit.edu	37	11	30033563	30033563	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:30033563delA	ENST00000328224.6	-	2	1896	c.663delT	c.(661-663)ttfs	p.F221fs		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	36	58	1	112	221						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.F221fs*21(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GGTTCCTGTCAAAAAAATACT	0.468000													1	0	0	1	0	1	1.000000	36	99	1	116							2
CCDC73	493860	broad.mit.edu	37	11	32637520	32637520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:32637520delT	ENST00000335185.5	-	15	1384	c.1341delA	c.(1339-1341)aafs	p.K447fs	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	14	11	0	39	447										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ATGAGCCTTCTTTTTTTTCTT	0.249000													1	1	0	1	0	1	0.999919	14	27	0	41							3
LRP4	4038	broad.mit.edu	37	11	46912011	46912011	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:46912011delG	ENST00000378623.1	-	14	1974	c.1732delC	c.(1732-1734)gtfs	p.R578fs		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	12	33	0	57	578					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCCTCAATACGGGGGGTGTTG	0.542000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	0	1	0.999455	12	47	0	58							4
PACSIN3	29763	broad.mit.edu	37	11	47200457	47200457	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:47200457delG	ENST00000539589.1	-	9	1367	c.1025delC	c.(1024-1026)cgfs	p.P342fs	PACSIN3_ENST00000298838.6_Frame_Shift_Del_p.P342fs	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	27	61	0	72	342					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						TGGGGACCCCGGGGACTGGGG	0.602000													1	1	1	1	0	1	1.000000	27	88	0	72	1	1	16	166	0	72	4
OR4C6	219432	broad.mit.edu	37	11	55432816	55432816	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:55432816delT	ENST00000314259.3	+	1	203	c.174delT	c.(172-174)tafs	p.Y58fs		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	56	88	0	170	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CACCTATGTATTTTTTTCTTA	0.423000													1	1	1	1	0	1	1.000000	56	147	0	172							4
TRIM51	84767	broad.mit.edu	37	11	55653610	55653610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:55653610delA	ENST00000449290.2	+	3	515	c.423delA	c.(421-423)ctfs	p.L141fs	TRIM51_ENST00000244891.3_5'UTR	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	24	29	0	74	141						intracellular	zinc ion binding										AGGAGCTCCTAAAAAAAATGC	0.403000													1	0	0	1	0	1	1.000000	24	53	0	75							2
RTN3	10313	broad.mit.edu	37	11	63525656	63525656	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:63525656delA	ENST00000377819.5	+	9	3236	c.3082delA	c.(3082-3084)aafs	p.K1030fs	RTN3_ENST00000341307.2_Frame_Shift_Del_p.Q212fs|RTN3_ENST00000540798.1_Frame_Shift_Del_p.K918fs|RTN3_ENST00000354497.4_Frame_Shift_Del_p.P146fs|RTN3_ENST00000356000.3_Frame_Shift_Del_p.K253fs|RTN3_ENST00000537981.1_Frame_Shift_Del_p.K234fs|RTN3_ENST00000339997.4_Frame_Shift_Del_p.K1011fs	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	21	32	0	39	1030	Interaction with FADD.|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				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGGAATCGCCAAAAAAAAGGC	0.333000													1	1	0	1	0	1	0.999999	21	53	0	42	1	1	41	259	0	42	3
INPPL1	3636	broad.mit.edu	37	11	71948748	71948748	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:71948748delC	ENST00000541756.1	+	26	3664	c.2734delC	c.(2734-2736)ccfs	p.P913fs	INPPL1_ENST00000298229.2_Frame_Shift_Del_p.P1155fs|INPPL1_ENST00000538751.1_Frame_Shift_Del_p.P913fs			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	11	30	0	29	1155					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGAGCTGCAGCCCCCCCGGGG	0.697000													1	1	1	1	0	1	0.998946	11	41	0	32	1	9.999994e-01	32	110	0	32	4
INPPL1	3636	broad.mit.edu	37	11	71948755	71948755	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:71948755delG	ENST00000541756.1	+	26	3671	c.2741delG	c.(2740-2742)cgfs	p.R914fs	INPPL1_ENST00000298229.2_Frame_Shift_Del_p.R1156fs|INPPL1_ENST00000538751.1_Frame_Shift_Del_p.R914fs			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	16	22	0	29	1156					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGCCCCCCCGGGGACTGCCC	0.697000													1	1	1	1	0	1	0.999975	16	41	0	31	1	1	43	99	0	31	4
XRRA1	143570	broad.mit.edu	37	11	74554923	74554923	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:74554923delG	ENST00000340360.6	-	18	2432	c.2101delC	c.(2101-2103)ggfs	p.R701fs	XRRA1_ENST00000527087.1_Intron|XRRA1_ENST00000321448.8_Frame_Shift_Del_p.R426fs	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	10	13	0	27	701					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GTAATGTTCCGGGGATCCCGC	0.557000													1	1	1	1	0	1	0.998334	10	23	0	27	1	7.963818e-01	2	7	0	27	4
CEP57	9702	broad.mit.edu	37	11	95552024	95552026	+	In_Frame_Del	DEL	GAA	GAA	-	rs142615007		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			GAA	-	GAA	GAA		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:95552024_95552026delGAA	ENST00000325542.5	+	6	893_895	c.655_657delGAA	c.(655-657)del	p.E221del	CEP57_ENST00000541150.1_In_Frame_Del_p.E212del|CEP57_ENST00000537677.1_In_Frame_Del_p.E194del|CEP57_ENST00000325486.5_In_Frame_Del_p.E221del|CEP57_ENST00000538658.1_In_Frame_Del_p.E221del	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	23	35	0	105	221	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAACTCCATGAAGAAGAACAGG	0.345000									Mosaic Variegated Aneuploidy Syndrome				1	1	1	1	0	1	1.000000	23	60	0	106	1	9.901975e-01	5	18	0	106	4
TECTA	7007	broad.mit.edu	37	11	120983885	120983885	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:120983885delC	ENST00000392793.1	+	5	862	c.591delC	c.(589-591)gafs	p.D197fs	TECTA_ENST00000264037.2_Frame_Shift_Del_p.D197fs			O75443	TECTA_HUMAN	tectorin alpha	38	73	0	107	197	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	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)		GTGGCGGCGACCCCCTGACAG	0.582000											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	0	1	1.000000	38	114	0	109							4
CCDC15	80071	broad.mit.edu	37	11	124845049	124845049	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:124845049delA	ENST00000529051.1	+	5	833	c.574delA	c.(574-576)aafs	p.K194fs	CCDC15_ENST00000344762.5_Frame_Shift_Del_p.K194fs			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	34	11	1	43	194						centrosome		p.K194fs*29(5)|p.S196fs*6(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AACCGTGATTAAAAAAAAGGG	0.373000													1	0	0	1	0	1	1.000000	34	46	1	46							2
SRPR	6734	broad.mit.edu	37	11	126137087	126137087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	-	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr11:126137087delT	ENST00000332118.6	-	4	663	c.509delA	c.(508-510)agfs	p.K170fs	SRPR_ENST00000532259.1_Frame_Shift_Del_p.K142fs	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	144	186	4	299	170					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	p.K170fs*33(2)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTTGGCCCCCTTTTTTTTGCT	0.438000													1	0	0	1	0	1	1.000000	144	339	4	306	0	9.911036e-01	0	19	4	306	2
CACNA1C	775	broad.mit.edu	37	12	2614074	2614074	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:2614074delT	ENST00000399655.1	+	8	1445	c.1180delT	c.(1180-1182)ttfs	p.F395fs	CACNA1C_ENST00000399621.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399597.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000344100.3_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000327702.7_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000480911.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000402845.3_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399591.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000347598.4_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399649.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399595.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000335762.5_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399644.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399606.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399629.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399601.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399637.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399638.1_Frame_Shift_Del_p.F395fs|CACNA1C_ENST00000399634.1_Intron	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	16	25	0	40	395					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			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			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)	CATAGGGTCATTTTTTGTACT	0.403000													1	1	1	1	0	1	0.999975	16	42	0	40							4
PLEKHA5	54477	broad.mit.edu	37	12	19427544	19427545	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:19427544_19427545insA	ENST00000538714.1	+	10	926_927	c.922_923insA	c.(922-924)aaafs	p.K308fs	PLEKHA5_ENST00000299275.6_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000359180.3_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000543806.1_Frame_Shift_Ins_p.K200fs|PLEKHA5_ENST00000355397.3_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000317589.4_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000424268.1_Frame_Shift_Ins_p.K200fs|PLEKHA5_ENST00000309364.4_Frame_Shift_Ins_p.K308fs|PLEKHA5_ENST00000429027.2_Frame_Shift_Ins_p.K314fs|PLEKHA5_ENST00000539256.1_Frame_Shift_Ins_p.K66fs	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	23	28	0	43	308							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CCAAAACAATCAAAAAAACAAG	0.327000													1	1	1	1	0	1	1.000000	23	51	0	43							4
KIF21A	55605	broad.mit.edu	37	12	39745622	39745623	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:39745622_39745623insT	ENST00000395670.3	-	11	2048_2049	c.1629_1630insA	c.(1627-1632)aaatttfs	p.F544fs	KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.F544fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.F544fs|KIF21A_ENST00000361418.5_Frame_Shift_Ins_p.F544fs|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.F544fs			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	31	41	0	101	544					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTCTAAATCTTTTTTTGCTA	0.337000													1	1	1	1	0	1	1.000000	31	73	0	102							4
HDAC7	51564	broad.mit.edu	37	12	48181527	48181527	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:48181527delG	ENST00000080059.7	-	21	2420	c.2421delC	c.(2419-2421)ccfs	p.P807fs	HDAC7_ENST00000380610.4_Frame_Shift_Del_p.P824fs|HDAC7_ENST00000427332.2_Frame_Shift_Del_p.P768fs|HDAC7_ENST00000552960.1_Frame_Shift_Del_p.P790fs|HDAC7_ENST00000354334.3_Frame_Shift_Del_p.P770fs	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	11	9	0	26	768	Histone deacetylase.				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			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GATCCCCCATGGGGGGGTCCA	0.622000													1	1	1	1	0	1	0.999298	11	20	0	27	1	9.225987e-01	2	9	0	27	4
KMT2D	8085	broad.mit.edu	37	12	49434073	49434074	+	Frame_Shift_Ins	INS	-	-	C	rs10747559	by1000genomes	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49434073_49434074insC	ENST00000301067.7	-	31	7478_7479	c.7479_7480insG	c.(7477-7482)ggtcccfs	p.P2494fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	25	60	0	61																		GCTGCTGGGAACCCCCCAGCCC	0.653000													1	1	1	1	0	1	1.000000	25	85	0	61							4
KMT2D	8085	broad.mit.edu	37	12	49440431	49440431	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:49440431delG	ENST00000301067.7	-	15	4378	c.4379delC	c.(4378-4380)cafs	p.P1460fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	51	114	0	130																		GGTGAGCAGTGGGGGGTCCAG	0.562000													1	1	1	1	0	1	1.000000	51	168	0	131							4
PRPF40B	25766	broad.mit.edu	37	12	50037501	50037502	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:50037501_50037502insA	ENST00000261897.1	+	23	2857_2858	c.2306_2307insA	c.(2305-2307)caafs	p.Q769fs	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Frame_Shift_Ins_p.Q803fs|PRPF40B_ENST00000380281.1_Frame_Shift_Ins_p.Q782fs			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	21	24	1	51	782					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCCAAGAAACCAAAAAAGAAAA	0.446000													1	0	0	1	0	1	0.999760	21	45	1	53	1	9.699142e-01	5	21	1	53	2
RNF41	10193	broad.mit.edu	37	12	56600292	56600293	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:56600292_56600293insC	ENST00000345093.4	-	7	1261_1262	c.892_893insG	c.(892-894)tgafs	p.*298fs	RNF41_ENST00000394013.2_Frame_Shift_Ins_p.*227fs|RNF41_ENST00000552656.1_Frame_Shift_Ins_p.*298fs	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	116	139	0	193	298					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						CACCATGTCATCCCCCATGTGC	0.515000											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	0	1	1.000000	116	263	0	198	1	9.999997e-01	14	39	0	198	4
LRP1	4035	broad.mit.edu	37	12	57603939	57603940	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:57603939_57603940insC	ENST00000243077.3	+	81	13033_13034	c.12567_12568insC	c.(12565-12570)acccccfs	p.TP4189fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	29	48	1	102	4189					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			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCTCCAACGCCCCCCCCAGA	0.639000													1	0	0	1	0	1	0.999998	29	79	1	104	1	9.892255e-01	3	20	1	104	2
MDM1	56890	broad.mit.edu	37	12	68724964	68724964	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:68724964delT	ENST00000303145.7	-	2	142	c.56delA	c.(55-57)agfs	p.K19fs	MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000430606.2_Frame_Shift_Del_p.K19fs|MDM1_ENST00000411698.2_Frame_Shift_Del_p.K19fs|MDM1_ENST00000393543.3_Frame_Shift_Del_p.K19fs|MDM1_ENST00000540418.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	54	79	0	123	19						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CAAATAAGACTTTTTCCACAG	0.423000													1	1	1	1	0	1	1.000000	54	136	0	124	0	8.060219e-14	0	1	0	124	4
HCFC2	29915	broad.mit.edu	37	12	104476535	104476535	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:104476535delA	ENST00000229330.4	+	7	1023	c.919delA	c.(919-921)aafs	p.K308fs		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	48	53	1	106	308					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.N309fs*32(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCAGGAAGATAAAAAAAATTC	0.373000													1	0	0	1	0	1	1.000000	48	102	1	108							2
NCOR2	9612	broad.mit.edu	37	12	124848228	124848228	+	Frame_Shift_Del	DEL	G	G	-	rs12321697		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:124848228delG	ENST00000356219.3	-	22	3080	c.2925delC	c.(2923-2925)ccfs	p.P975fs	NCOR2_ENST00000429285.2_Frame_Shift_Del_p.P957fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.P975fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.P958fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.P957fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.P528fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	124	199	0	262	975					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			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	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)		CACTCACGATGGGGGGGATGG	0.652000													1	0	0	1	0	1	1.000000	124	337	0	286							2
DHX37	57647	broad.mit.edu	37	12	125450264	125450265	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:125450264_125450265insC	ENST00000308736.2	-	13	1782_1783	c.1684_1685insG	c.(1684-1686)cctfs	p.P562fs	DHX37_ENST00000544745.1_Frame_Shift_Ins_p.P349fs	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	21	41	0	44	562	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.A562V(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	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)		GGAGTCCAGGGCCCCCTCTTCC	0.604000													1	0	0	1	0	1	0.999999	21	64	0	45	0	6.296403e-01	1	7	0	45	2
P2RX2	0	broad.mit.edu	37	12	133196264	133196264	+	Splice_Site	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr12:133196264delG	ENST00000389110.3	+	3	346		c.e3-1		P2RX2_ENST00000348800.5_Splice_Site|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000350048.5_Intron|P2RX2_ENST00000343948.4_Splice_Site|P2RX2_ENST00000449132.2_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	23	33	0	48						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			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	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)		TCTGAGCCCAGGGGGGCAGCG	0.756000													1	1	1	1	0	1	1.000000	23	58	0	48							4
RNF6	6049	broad.mit.edu	37	13	26788241	26788241	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:26788241delA	ENST00000381588.4	-	5	2530	c.1778delT	c.(1777-1779)tafs	p.L594fs	RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Frame_Shift_Del_p.L594fs|RNF6_ENST00000399762.2_Frame_Shift_Del_p.L238fs|RNF6_ENST00000346166.3_Frame_Shift_Del_p.L594fs	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	73	102	2	138	594					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			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	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)		TTCATTTAGTAAAAAAAAGTG	0.403000													1	0	0	1	0	1	1.000000	73	177	2	144	1	9.935586e-01	4	22	2	144	2
POSTN	10631	broad.mit.edu	37	13	38144790	38144790	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	-	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:38144790delT	ENST00000379747.4	-	19	2313	c.2196delA	c.(2194-2196)aafs	p.K732fs	POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379743.4_Frame_Shift_Del_p.K705fs|POSTN_ENST00000379749.4_Frame_Shift_Del_p.K732fs|POSTN_ENST00000541179.1_Frame_Shift_Del_p.K705fs|POSTN_ENST00000379742.4_Frame_Shift_Del_p.K675fs|POSTN_ENST00000497145.1_5'UTR	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	30	60	0	95	732					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		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)		TTTTGGTGTATTTTTTAATAA	0.343000													1	1	1	1	0	1	1.000000	30	91	0	96	0	9.999955e-01	1	65	0	96	4
ZC3H13	23091	broad.mit.edu	37	13	46543691	46543691	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:46543691delT	ENST00000242848.4	-	14	3336	c.2988delA	c.(2986-2988)aafs	p.K996fs	ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.K996fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	8	69	0	70	996	Lys-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		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)		TTTTCTGTCCTTTTTTTGGTG	0.333000													1	0	1	0	0	1	0.990538	8	77	0	71	0	1.633200e-01	0	7	0	71	2
MYCBP2	23077	broad.mit.edu	37	13	77844149	77844149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:77844149delT	ENST00000407578.2	-	7	1504	c.1238delA	c.(1237-1239)agfs	p.K413fs	MYCBP2_ENST00000544440.2_Frame_Shift_Del_p.K375fs|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.K375fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	56	92	0	160	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAACCAAGACTTTTTTTCTTT	0.289000													1	1	1	1	0	1	1.000000	56	153	0	165							4
ERCC5	2073	broad.mit.edu	37	13	103524612	103524612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr13:103524612delA	ENST00000355739.4	+	13	4166	c.2743delA	c.(2743-2745)aafs	p.K917fs	BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5	30	33	0	57											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACCAAAGTGAAAAAAAAATT	0.428000			Mis, N, F			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				0	0	1	1	0	1	1.000000	30	66	0	58	1	1	30	70	0	58	2
OR4K13	390433	broad.mit.edu	37	14	20502375	20502375	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:20502375delA	ENST00000315693.2	-	1	544	c.543delT	c.(541-543)ctfs	p.L181fs		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	29	69	0	175	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCACAAGGGGAAGGTCACAGA	0.483000													1	1	1	1	0	1	1.000000	29	99	0	177							4
TOX4	9878	broad.mit.edu	37	14	21961051	21961053	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:21961051_21961053delGCA	ENST00000405508.1	+	8	1552_1554	c.1276_1278delGCA	c.(1276-1278)del	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	95	210	0	386	434	Gln/Pro-rich.|Poly-Ala.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGTGTTGCAGGCAGCAGCAGCTG	0.591000													1	0	0	1	0	1	1.000000	97	313	0	389	0	8.137296e-01	0	12	0	389	2
NKX2-1	7080	broad.mit.edu	37	14	36987157	36987157	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:36987157delC	ENST00000518149.1	-	3	1047	c.442delG	c.(442-444)acfs	p.D148fs	NKX2-1_ENST00000354822.5_Frame_Shift_Del_p.D178fs|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000522719.2_Frame_Shift_Del_p.D148fs|NKX2-1_ENST00000498187.2_Frame_Shift_Del_p.D148fs			P43699	NKX21_HUMAN	NK2 homeobox 1	13	26	0	35	148					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		TTGCTCACGTCCCCCAGCGAG	0.687000			A		NSCLC								1	1	1	1	0	1	0.999764	13	39	0	36							4
SNAPC1	6617	broad.mit.edu	37	14	62242911	62242911	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:62242911delT	ENST00000216294.4	+	5	737	c.633delT	c.(631-633)gafs	p.D211fs	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	19	29	0	56	211	SNAPC4-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.D214fs*1(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TAAAGGATGATTTTTTTGACA	0.358000													1	1	1	1	0	1	0.999997	19	48	0	57	1	9.995846e-01	2	35	0	57	4
ZBTB1	22890	broad.mit.edu	37	14	64988802	64988802	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:64988802delA	ENST00000358738.3	+	2	971	c.580delA	c.(580-582)aafs	p.K195fs	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000554015.1_Frame_Shift_Del_p.K195fs|ZBTB1_ENST00000394712.2_Frame_Shift_Del_p.K195fs	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	44	59	0	98	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		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)		TGATGTATGTAAAAAAAGTTC	0.403000													1	1	0	1	0	1	1.000000	44	105	0	101	1	7.337504e-01	3	5	0	101	3
SIPA1L1	26037	broad.mit.edu	37	14	72054754	72054755	+	Frame_Shift_Ins	INS	-	-	C	rs12884638	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:72054754_72054755insC	ENST00000555818.1	+	2	513_514	c.165_166insC	c.(163-168)ggccccfs	p.GP55fs	SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.GP55fs|SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.GP55fs	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	53	88	0	174	55					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			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CTCCTGTAGGACCCCCCCGAAG	0.535000													1	1	1	1	0	1	1.000000	53	143	0	177							4
ELMSAN1	91748	broad.mit.edu	37	14	74205773	74205773	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:74205773delG	ENST00000286523.5	-	2	1721	c.939delC	c.(937-939)ccfs	p.P313fs	ELMSAN1_ENST00000394071.2_Frame_Shift_Del_p.P313fs	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1	14	21	0	32																		TATCTGGGTTGGGGGGGAAGG	0.662000													1	1	1	1	0	1	0.999898	14	35	0	32							4
BTBD7	55727	broad.mit.edu	37	14	93761193	93761193	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:93761193delT	ENST00000334746.5	-	3	480	c.173delA	c.(172-174)agfs	p.K58fs	BTBD7_ENST00000555525.1_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000298896.3_Frame_Shift_Del_p.K58fs|BTBD7_ENST00000554565.1_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	77	135	2	151	58								p.K58fs*44(2)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AGAGGTTCTCTTTTTTTTGTC	0.438000													1	0	0	1	0	1	1.000000	77	218	2	162	0	0	0	1	2	162	2
CDC42BPB	9578	broad.mit.edu	37	14	103447224	103447224	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:103447224delA	ENST00000361246.2	-	8	1314	c.1026delT	c.(1024-1026)ttfs	p.F342fs		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	45	72	0	102	342	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	p.E343fs*1(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTAGACCTTCAAAAAACGCAT	0.458000													1	1	1	1	0	1	1.000000	45	120	0	104	0	1.874067e-01	1	2	0	104	4
EXOC3L4	91828	broad.mit.edu	37	14	103573972	103573973	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:103573972_103573973delCT	ENST00000380069.3	+	9	1782_1783	c.1706_1707delCT	c.(1705-1707)afs	p.T569fs		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	8	14	0	19	569										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GCCCAGGAGACTCTGCAGGAGG	0.703000													0	0	1	1	0	1	0.992692	8	23	0	19							2
KIF26A	26153	broad.mit.edu	37	14	104642560	104642560	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr14:104642560delC	ENST00000315264.7	+	11	3396	c.3018delC	c.(3016-3018)ggfs	p.G1006fs	KIF26A_ENST00000423312.2_Frame_Shift_Del_p.G1145fs			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	10	15	0	20	1145					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			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		ACCCTGGGGGCCCCCCTGCCC	0.711000													1	1	1	1	0	1	0.998260	10	25	0	20							4
NIPA2	81614	broad.mit.edu	37	15	23021237	23021238	+	Frame_Shift_Ins	INS	-	-	T	rs145147241	byFrequency	TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:23021237_23021238insT	ENST00000337451.3	-	4	711_712	c.99_100insA	c.(97-102)aagcctfs	p.P34fs	NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.P34fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.P34fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.P34fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.P34fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	58	68	1	116	34						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		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)		CGAAGGAGGCCCTTTTTTTTCA	0.446000													1	0	0	0	0	1	1.000000	58	128	1	120	1	9.969726e-01	9	14	1	120	1
RASGRP1	10125	broad.mit.edu	37	15	38795505	38795505	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:38795505delT	ENST00000310803.5	-	11	1573	c.1396delA	c.(1396-1398)ccfs	p.T466fs	RASGRP1_ENST00000450598.2_Intron|RASGRP1_ENST00000539159.1_Frame_Shift_Del_p.T418fs|RASGRP1_ENST00000561180.1_Frame_Shift_Del_p.T517fs|RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000558164.1_Intron|RP11-102L12.2_ENST00000560231.1_RNA	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	12	14	0	32	466					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			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		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)		TTGCTAATGGTTTTTGGATCA	0.443000													1	1	1	1	0	1	0.999615	12	26	0	32	0	1.109756e-01	1	1	0	32	4
VPS13C	54832	broad.mit.edu	37	15	62174867	62174868	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:62174867_62174868insA	ENST00000261517.5	-	69	9624_9625	c.9551_9552insT	c.(9550-9552)ttcfs	p.F3184fs	VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.F3141fs|VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.F3141fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.F3184fs	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	35	42	0	99	3184					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAATTCCTGATAAAAAGTCTCG	0.371000													1	1	1	1	0	1	1.000000	35	78	0	101							4
USP3	9960	broad.mit.edu	37	15	63829242	63829242	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:63829242delA	ENST00000268049.7	+	4	429	c.105delA	c.(103-105)gcfs	p.A35fs	USP3_ENST00000536001.1_Frame_Shift_Del_p.A57fs|USP3_ENST00000380324.3_Frame_Shift_Del_p.A57fs|USP3_ENST00000558285.1_Frame_Shift_Del_p.A40fs|USP3_ENST00000539772.1_Intron|USP3_ENST00000540797.1_Intron			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	10	18	0	38	57					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			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		ATGGCCATGCAAAAAAACATT	0.299000													1	1	1	1	0	1	0.998161	10	28	0	38	0	5.551115e-15	0	1	0	38	4
MTFMT	123263	broad.mit.edu	37	15	65312544	65312544	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:65312544delC	ENST00000220058.4	-	5	725	c.712delG	c.(712-714)cgfs	p.A238fs		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	17	34	0	37	238						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CCGTAAGTCGCCCCCTCCATT	0.408000													1	1	1	1	0	1	0.999986	17	53	0	37	0	7.375606e-01	1	9	0	37	4
CALML4	91860	broad.mit.edu	37	15	68486389	68486389	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:68486389delA	ENST00000448060.2	-	4	525	c.414delT	c.(412-414)ttfs	p.F138fs	RP11-315D16.2_ENST00000562767.1_3'UTR|CALML4_ENST00000540479.1_Frame_Shift_Del_p.F109fs|CALML4_ENST00000467889.1_Frame_Shift_Del_p.F185fs|CALML4_ENST00000395465.3_3'UTR	NM_001031733.2	NP_001026903.2	Q96GE6	CALL4_HUMAN	calmodulin-like 4	37	36	0	53	185	EF-hand 3.						calcium ion binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						TCTTGTGGATAAATTCATCAT	0.403000													1	1	1	1	0	1	1.000000	37	75	0	54	1	9.999977e-01	13	35	0	54	4
UACA	55075	broad.mit.edu	37	15	70959372	70959372	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr15:70959372delT	ENST00000322954.6	-	16	3836	c.3651delA	c.(3649-3651)aafs	p.K1217fs	UACA_ENST00000539319.1_Frame_Shift_Del_p.K1108fs|UACA_ENST00000560441.1_Frame_Shift_Del_p.K1202fs|UACA_ENST00000379983.2_Frame_Shift_Del_p.K1204fs	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	29	64	0	94	1217						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TAGTCTCTAATTTTTTTAATG	0.348000													1	1	1	1	0	1	1.000000	29	96	0	96	1	9.999958e-01	10	61	0	96	4
C16orf62	57020	broad.mit.edu	37	16	19710892	19710894	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			CAA	-	CAA	CAA		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:19710892_19710894delCAA	ENST00000438132.3	+	30	3030_3032	c.2982_2984delCAA	c.(2980-2985)cgc>cg	p.RN994del	C16orf62_ENST00000417362.2_In_Frame_Del_p.RN812del|C16orf62_ENST00000251143.5_In_Frame_Del_p.RN905del|C16orf62_ENST00000543152.1_In_Frame_Del_p.RN654del|C16orf62_ENST00000448695.1_In_Frame_Del_p.RN755del|C16orf62_ENST00000542263.1_In_Frame_Del_p.RN901del	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	35	69	0	156	905						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGGACCTACGCAACAACAAGCTC	0.596000													1	1	1	1	0	1	1.000000	35	104	0	162	1	9.999999e-01	14	74	0	162	4
ERN2	10595	broad.mit.edu	37	16	23711986	23711986	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:23711986delG	ENST00000256797.4	-	13	1711	c.1543delC	c.(1543-1545)tgfs	p.L515fs	ERN2_ENST00000457008.2_Frame_Shift_Del_p.L415fs	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	36	60	0	121	467					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)		GCAGGTGCCAGGGGGGTCTCC	0.627000													1	1	1	1	0	1	1.000000	36	100	0	124							4
GTF3C1	2975	broad.mit.edu	37	16	27475772	27475772	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:27475772delG	ENST00000356183.4	-	34	5756	c.5741delC	c.(5740-5742)cafs	p.P1914fs	GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.P1914fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	83	156	0	187	1914						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTCAAGAGCTGGGGGTGGAGA	0.652000													1	1	1	1	0	1	1.000000	83	246	0	192	1	9.999998e-01	9	61	0	192	4
CD2BP2	10421	broad.mit.edu	37	16	30364763	30364763	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:30364763delG	ENST00000305596.3	-	5	909	c.734delC	c.(733-735)cafs	p.P246fs	CD2BP2_ENST00000569466.1_Frame_Shift_Del_p.P246fs	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	35	71	0	105	246					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CAGGGAGGGTGGGGGTGTGGG	0.612000													1	1	1	1	0	1	1.000000	35	110	0	107	1	9.999968e-01	7	61	0	107	4
SRCAP	10847	broad.mit.edu	37	16	30736371	30736371	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:30736371delC	ENST00000262518.4	+	25	6011	c.5626delC	c.(5626-5628)ccfs	p.P1880fs	SRCAP_ENST00000395059.2_Frame_Shift_Del_p.P1818fs|SRCAP_ENST00000344771.4_Frame_Shift_Del_p.P1722fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	67	119	0	149	1880	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			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGACGCCAGCCCCCCCCACC	0.567000													1	1	0	1	0	1	1.000000	67	196	0	157	0	8.067194e-01	1	10	0	157	3
PDPR	55066	broad.mit.edu	37	16	70190614	70190614	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:70190614delG	ENST00000288050.4	+	19	3429	c.2472delG	c.(2470-2472)acfs	p.T824fs	PDPR_ENST00000568530.1_Frame_Shift_Del_p.T824fs|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Frame_Shift_Del_p.T182fs|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Frame_Shift_Del_p.T724fs|PDPR_ENST00000542659.1_Frame_Shift_Del_p.T169fs	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	21	116	0	166	824					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGAGGACACGGGGGAAGAGC	0.557000													1	1	1	1	0	1	0.999999	21	142	0	169	0	9.078916e-02	0	4	0	169	4
AARS	16	broad.mit.edu	37	16	70288530	70288530	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:70288530delA	ENST00000261772.8	-	17	2537	c.2394delT	c.(2392-2394)ctfs	p.L798fs		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	19	44	0	39	798					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CTACCTCTCCAAGGTCAGCGA	0.547000													1	1	1	1	0	1	0.999996	19	63	0	39	1	1	9	157	0	39	4
ZFHX3	463	broad.mit.edu	37	16	72991758	72991758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:72991758delC	ENST00000268489.5	-	2	2959	c.2287delG	c.(2287-2289)agfs	p.E763fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	29	45	1	110	763					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			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGACCTGCTCCCCCCCTCCA	0.622000													1	0	0	1	0	1	0.999998	29	77	1	112							2
GSE1	23199	broad.mit.edu	37	16	85682261	85682261	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:85682261delC	ENST00000253458.7	+	3	506	c.330delC	c.(328-330)gtfs	p.V110fs	GSE1_ENST00000405402.2_Frame_Shift_Del_p.V6fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.V37fs	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein	59	112	0	161																		CTATCATCGTCCCCCCTGGGG	0.677000													1	1	1	1	0	1	1.000000	59	175	0	169	0	0	0	1	0	169	4
KLHDC4	54758	broad.mit.edu	37	16	87788830	87788830	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:87788830delG	ENST00000270583.5	-	4	397	c.339delC	c.(337-339)ccfs	p.P113fs	KLHDC4_ENST00000353170.5_Frame_Shift_Del_p.P56fs|KLHDC4_ENST00000347925.5_Frame_Shift_Del_p.P113fs	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	27	50	0	84	113										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GAGGTGGACTGGGGATGTCAA	0.512000													1	1	1	1	0	1	1.000000	27	78	0	86	0	6.524615e-01	1	7	0	86	4
SPG7	6687	broad.mit.edu	37	16	89598886	89598886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr16:89598886delG	ENST00000268704.2	+	9	1181	c.1166delG	c.(1165-1167)ctfs	p.R389fs	SPG7_ENST00000341316.2_Frame_Shift_Del_p.R389fs	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	50	100	0	111	389					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			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		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)		GGCGCTGCCCGTGTGCGGAGC	0.582000													1	1	1	1	0	1	1.000000	50	152	0	113	1	9.938014e-01	4	23	0	113	4
CAMTA2	23125	broad.mit.edu	37	17	4875738	4875738	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:4875738delG	ENST00000361571.5	-	15	3005	c.2594delC	c.(2593-2595)ctfs	p.P865fs	CAMTA2_ENST00000414043.3_Frame_Shift_Del_p.P889fs|CAMTA2_ENST00000348066.3_Frame_Shift_Del_p.P866fs|CAMTA2_ENST00000381311.5_Frame_Shift_Del_p.P868fs|CAMTA2_ENST00000572543.1_Frame_Shift_Del_p.P871fs|CAMTA2_ENST00000358183.4_Frame_Shift_Del_p.P866fs	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	20	20	0	27	866					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			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CAGAGGTGCAGGGGGGGGACT	0.612000													1	1	1	1	0	1	0.999999	20	40	0	29	1	9.999322e-01	11	28	0	29	4
PLSCR3	57048	broad.mit.edu	37	17	7294059	7294059	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:7294059delC	ENST00000535512.1	-	10	1742	c.725delG	c.(724-726)gcfs	p.G242fs	C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000574401.1_Frame_Shift_Del_p.G242fs|PLSCR3_ENST00000576201.1_Frame_Shift_Del_p.G242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Del_p.G218fs|PLSCR3_ENST00000324822.11_Frame_Shift_Del_p.G242fs			Q9NRY6	PLS3_HUMAN	phospholipid scramblase 3	71	107	1	186	242					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				TCGGACCAGGCCCCCCCACTG	0.612000													1	1	0	1	0	1	1.000000	71	184	1	191	1	1	33	136	1	191	3
ELAC2	60528	broad.mit.edu	37	17	12897743	12897744	+	Splice_Site	DEL	TG	TG	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			TG	-	TG	TG		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:12897743_12897744delTG	ENST00000338034.4	-	22	2345_2346	c.2108_splice	c.e22+1	p.HS702_splice	ELAC2_ENST00000426905.3_Splice_Site_p.HS662_splice|ELAC2_ENST00000395962.2_Splice_Site_p.HS683_splice	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	147	276	0	405	702					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CTTTGCTACCTGTGTGTCTTTT	0.564000													1	1	1	1	0	1	1.000000	148	428	0	412	1	1	39	169	0	412	4
RAI1	10743	broad.mit.edu	37	17	17698653	17698653	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:17698653delC	ENST00000353383.1	+	3	2860	c.2391delC	c.(2389-2391)gafs	p.D797fs	RAI1_ENST00000261641.6_Frame_Shift_Del_p.D797fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	20	32	0	53	797						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGGAGGAGGACCCCCCTGGGG	0.667000													1	1	1	1	0	1	0.999999	20	54	0	54	1	3.086660e-01	2	2	0	54	4
NLK	51701	broad.mit.edu	37	17	26519194	26519195	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:26519194_26519195delCT	ENST00000407008.3	+	10	2202_2203	c.1484_1485delCT	c.(1483-1485)cfs	p.P495fs		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	10	12	0	17	495					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			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AACAGAGTGCCTCTCTGCATCA	0.376000													0	1	1	1	0	1	0.998374	10	22	0	18	0	2.526611e-01	0	3	0	18	3
TAF15	8148	broad.mit.edu	37	17	34171886	34171886	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:34171886delG	ENST00000588240.1	+	15	1698	c.1583delG	c.(1582-1584)cgfs	p.R528fs	TAF15_ENST00000592237.1_Frame_Shift_Del_p.G334fs|TAF15_ENST00000311979.3_Frame_Shift_Del_p.R525fs	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	41	61	0	102	528	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gACAGAAGCCGGGGGGGCTAT	0.612000			T	TEC, CHN1, ZNF384	extraskeletal myxoid chondrosarcomas, ALL								1	1	1	1	0	1	1.000000	41	104	0	104	1	1	165	490	0	104	4
CACNB1	782	broad.mit.edu	37	17	37341119	37341120	+	Splice_Site	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:37341119_37341120insG	ENST00000394303.3	-	8	856		c.e8-2		CACNB1_ENST00000344140.5_Splice_Site|CACNB1_ENST00000394310.3_Splice_Site	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	16	40	0	42						axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	ATGCTCTGTCTGGGGGGGGAAG	0.629000													1	1	0	1	0	1	0.999966	16	62	0	44	0	4.722222e-02	0	2	0	44	3
KRT222	125113	broad.mit.edu	37	17	38818272	38818272	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:38818272delT	ENST00000476049.1	-	2	162	c.121delA	c.(121-123)tgfs	p.M41fs	KRT222_ENST00000394052.3_Frame_Shift_Del_p.M41fs			Q8N1A0	KT222_HUMAN	keratin 222	62	88	0	115	41						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TCTTTGTCCATTTTTTTGCTT	0.428000													1	1	1	1	0	1	1.000000	62	157	0	117							4
KRT12	3859	broad.mit.edu	37	17	39023275	39023275	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:39023275delC	ENST00000251643.4	-	1	187	c.164delG	c.(163-165)gafs	p.G56fs		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	33	65	1	137	56	Gly-rich.|Head.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				AGAAAAGCCTCCCCCACAGCT	0.577000													1	0	0	1	0	1	1.000000	33	100	1	142							2
RAMP2	10266	broad.mit.edu	37	17	40914372	40914372	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	-	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:40914372delG	ENST00000587142.1	+	3	182	c.178delG	c.(178-180)ggfs	p.G61fs	RAMP2_ENST00000588576.1_Intron|RAMP2_ENST00000589683.1_Splice_Site|RAMP2_ENST00000253796.5_Splice_Site			O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	96	124	1	210	56					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	TGTACCTACAGGGGGGACGGT	0.507000													1	0	0	1	0	1	1.000000	96	224	1	214	0	1	0	81	1	214	2
HOXB1	3211	broad.mit.edu	37	17	46607839	46607839	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:46607839delG	ENST00000239174.6	-	1	520	c.428delC	c.(427-429)ctfs	p.P143fs	HOXB1_ENST00000577092.1_Frame_Shift_Del_p.P143fs	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	26	51	0	105	143						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTTCCCATAAGGGGGATGCTG	0.617000													1	1	1	1	0	1	1.000000	26	78	0	106							4
XYLT2	64132	broad.mit.edu	37	17	48433967	48433968	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:48433967_48433968delCC	ENST00000017003.2	+	8	1627_1628	c.1578_1579delCC	c.(1576-1581)taccfs	p.YP526fs	XYLT2_ENST00000507602.1_Frame_Shift_Del_p.YP526fs	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	42	74	0	125	526					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGGCAGCTACCCCCCCGGCAC	0.604000													1	1	0	1	0	1	1.000000	42	118	0	129	0	8.589912e-01	1	11	0	129	3
COIL	8161	broad.mit.edu	37	17	55028016	55028016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:55028016delT	ENST00000240316.4	-	2	621	c.587delA	c.(586-588)agfs	p.K196fs		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	43	76	0	81	196	Lys-rich (basic).					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					ATTCTTAGCCTTTTTTTTATA	0.393000													1	1	1	1	0	1	1.000000	43	123	0	85	0	5.802266e-01	1	6	0	85	4
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:56435161delC	ENST00000584437.1	-	8	3931	c.1976delG	c.(1975-1977)gtfs	p.G659fs	RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	89	141	1	206	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCGGAGGGACCCCCCCGCCT	0.602000													1	0	0	1	0	1	1.000000	89	239	1	213							2
DNAH17	8632	broad.mit.edu	37	17	76425217	76425217	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr17:76425217delG	ENST00000389840.5	-	76	12496	c.12372delC	c.(12370-12372)ccfs	p.P4124fs	DNAH17_ENST00000585328.1_Frame_Shift_Del_p.P4125fs|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17	40	120	0	145											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTCCAGGTTGGGGGGGATCT	0.582000													1	1	1	1	0	1	1.000000	40	162	0	150							4
TRAPPC8	22878	broad.mit.edu	37	18	29453418	29453418	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:29453418delA	ENST00000283351.4	-	14	2372	c.2037delT	c.(2035-2037)ttfs	p.F679fs	TRAPPC8_ENST00000582539.1_Frame_Shift_Del_p.F625fs	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	16	11	1	37	679					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTCATGGCCAAAAAAAACCC	0.358000													1	0	0	1	0	1	0.996359	16	28	1	38	0	0	0	1	1	38	2
EPG5	57724	broad.mit.edu	37	18	43459143	43459143	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:43459143delA	ENST00000282041.5	-	33	5738	c.5704delT	c.(5704-5706)atfs	p.Y1902fs	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	49	58	0	92	1902					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CGAAGCTTATAAAAAAAGTCT	0.343000													1	1	1	1	0	1	1.000000	49	113	0	95							4
SMAD7	4092	broad.mit.edu	37	18	46474794	46474795	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:46474794_46474795insG	ENST00000262158.2	-	2	912_913	c.626_627insC	c.(625-627)cccfs	p.P209fs	SMAD7_ENST00000589634.1_Frame_Shift_Ins_p.P209fs|SMAD7_ENST00000591805.1_5'UTR	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	16	45	0	71	209	Important for interaction with SMURF2.|Poly-Pro.				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			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TGGAGTAAGGAGGGGGGGGAGA	0.386000													1	1	0	1	0	1	0.999965	16	64	0	74	1	8.504337e-01	5	11	0	74	3
MBD1	4152	broad.mit.edu	37	18	47800028	47800028	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:47800028delG	ENST00000591416.1	-	12	1783	c.1352delC	c.(1351-1353)cgfs	p.P452fs	MBD1_ENST00000590208.1_Frame_Shift_Del_p.P452fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.P503fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.P396fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.P396fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.P452fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.P477fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.P429fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.P429fs|MBD1_ENST00000398493.1_Frame_Shift_Del_p.P396fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.P396fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.P452fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.P402fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.P403fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.P396fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.P429fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.P421fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.P477fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.P429fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.P452fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	19	62	1	108	452					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			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AGTGCCAGGCGGGGGCAGCAC	0.617000													1	0	0	1	0	1	0.999574	19	82	1	109	1	9.276574e-01	5	17	1	109	2
RTTN	25914	broad.mit.edu	37	18	67697249	67697249	+	Splice_Site	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr18:67697249delT	ENST00000255674.6	-	42	6030	c.5745_splice	c.e42+1	p.K1915_splice	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000579986.1_5'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	55	65	0	132	1915							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GAATGTTACCTTTTTTTTCAA	0.398000													1	1	1	1	0	1	1.000000	55	125	0	133	1	8.878096e-01	3	8	0	133	4
TICAM1	148022	broad.mit.edu	37	19	4816465	4816465	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:4816465delG	ENST00000248244.5	-	2	2154	c.1925delC	c.(1924-1926)cafs	p.P644fs		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	20	22	0	57	644	Pro-rich.|Sufficient to induce apoptosis.			Missing (in Ref. 6; AAO85488).	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	p.P643fs*>71(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGAGGGCGGTGGGGGGGTGCC	0.731000													1	1	1	1	0	1	0.999999	20	44	0	59	1	9.969236e-01	5	20	0	59	4
SAFB2	9667	broad.mit.edu	37	19	5587282	5587282	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:5587282delG	ENST00000252542.4	-	21	3098	c.2834delC	c.(2833-2835)cgfs	p.P945fs		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	6	18	0	31	945	Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	p.P945fs*>9(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		gtgggggtacggggggggatg	0.657000													1	0	1	1	0	1	0.970165	6	26	0	32	1	9.999991e-01	70	192	0	32	3
MUC16	94025	broad.mit.edu	37	19	9062393	9062394	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:9062393_9062394delTG	ENST00000397910.4	-	3	25255_25256	c.25052_25053delCA	c.(25051-25053)afs	p.T8351fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	53	80	0	126	8353	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCACTGCTGTGTGTGTGGA	0.485000													1	1	1	1	0	1	1.000000	53	133	0	132							4
ZNF433	163059	broad.mit.edu	37	19	12127235	12127235	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:12127235delT	ENST00000419886.2	-	5	633	c.342delA	c.(340-342)aafs	p.K114fs	ZNF433_ENST00000344980.6_Frame_Shift_Del_p.K149fs|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	58	88	0	108	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AGTTGAAAGGTTTTTTACAGT	0.368000													1	1	1	1	0	1	1.000000	58	148	0	115	0	6.311770e-01	0	7	0	115	4
OR7C2	26658	broad.mit.edu	37	19	15052829	15052829	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:15052829delT	ENST00000248072.3	+	1	529	c.529delT	c.(529-531)ttfs	p.F178fs		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	85	100	0	186	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					AATTCCGCACTTTTTTTGTGA	0.468000													1	1	0	1	0	1	1.000000	85	188	0	192							3
CPAMD8	27151	broad.mit.edu	37	19	17039883	17039884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:17039883_17039884insC	ENST00000443236.1	-	24	3184_3185	c.3153_3154insG	c.(3151-3156)ggatcafs	p.S1052fs		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	21	27	0	58	1005						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.H1052fs*30(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GTGTTCTGATGCCCCCCCAGGA	0.584000													1	1	1	1	0	1	0.999999	21	48	0	58							4
ELL	8178	broad.mit.edu	37	19	18569071	18569073	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:18569071_18569073delCTT	ENST00000262809.4	-	6	882_884	c.811_813delAAG	c.(811-813)del	p.K271del		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	27	49	0	55	271					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			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CAGGCCAGTCCTTCTGCACATCC	0.601000			T	MLL	AL								1	1	1	1	0	1	1.000000	27	80	0	56	1	6.412861e-01	2	6	0	56	4
WBP7	0	broad.mit.edu	37	19	36229400	36229400	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:36229400delC	ENST00000222270.7	+	37	8090	c.8090delC	c.(8089-8091)gcfs	p.A2697fs	WBP7_ENST00000420124.1_Frame_Shift_Del_p.A2697fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1				22	26	0	55																		ATCGAGGATGCCAGCAACAAG	0.617000													1	1	1	1	0	1	1.000000	22	50	0	56	1	1	78	206	0	56	4
PAK4	0	broad.mit.edu	37	19	39664268	39664269	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:39664268_39664269insC	ENST00000599386.1	+	4	438_439	c.257_258insC	c.(256-258)accfs	p.T86fs	PAK4_ENST00000435673.2_Frame_Shift_Ins_p.T239fs|PAK4_ENST00000599470.1_Frame_Shift_Ins_p.T86fs|PAK4_ENST00000593690.1_Frame_Shift_Ins_p.T239fs|PAK4_ENST00000358301.3_Frame_Shift_Ins_p.T239fs|PAK4_ENST00000360442.3_Frame_Shift_Ins_p.T239fs|PAK4_ENST00000321944.4_Frame_Shift_Ins_p.T149fs	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	18	18	0	26	239	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	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)			GGCCTGGCCATCCCCCAGTCCT	0.703000													1	1	1	1	0	1	0.999996	18	36	0	26	0	9.116755e-01	1	10	0	26	4
DMPK	1760	broad.mit.edu	37	19	46283185	46283185	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:46283185delG	ENST00000600757.1	-	1	820	c.133delC	c.(133-135)ttfs	p.L45fs	DMPK_ENST00000458663.2_Intron|DMPK_ENST00000447742.2_Intron|DMPK_ENST00000354227.5_Intron|DMPK_ENST00000343373.4_Frame_Shift_Del_p.L45fs|DMPK_ENST00000291270.4_Intron|AC011530.4_ENST00000593999.1_Intron			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	13	22	0	21	45					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		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)		CTGGAGACAAGGGGGAAAGCC	0.612000													1	0	1	1	0	1	0.999776	13	36	0	21	1	7.320143e-01	2	7	0	21	3
ARHGAP35	2909	broad.mit.edu	37	19	47424741	47424741	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:47424741delT	ENST00000404338.3	+	1	2809	c.2809delT	c.(2809-2811)ttfs	p.F938fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	71	112	0	138	938					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										CTTTCACCCATTTTTTAAAGA	0.453000													1	1	1	1	0	1	1.000000	71	190	0	142	0	0	0	1	0	142	4
IL4I1	259307	broad.mit.edu	37	19	50393104	50393104	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:50393104delC	ENST00000595948.1	-	10	2213	c.1593delG	c.(1591-1593)ggfs	p.G531fs	IL4I1_ENST00000341114.3_Frame_Shift_Del_p.G531fs|IL4I1_ENST00000391826.2_Frame_Shift_Del_p.G509fs	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	28	33	0	54	509						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		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)		CCGATGCAGGCCCCTTCCGGC	0.687000													1	1	1	1	0	1	1.000000	28	63	0	56	1	9.899860e-01	4	16	0	56	4
SHANK1	50944	broad.mit.edu	37	19	51192558	51192559	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:51192558_51192559insG	ENST00000391813.1	-	1	102_103	c.103_104insC	c.(103-105)tttfs	p.F35fs	SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000391814.1_Intron|SHANK1_ENST00000359082.3_Intron			Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	9	32	0	55	1218					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GCAGGAGAAATGGGGGGGTGGT	0.589000													1	0	1	0	0	1	0.995339	9	56	0	72							2
ZSCAN18	65982	broad.mit.edu	37	19	58596656	58596656	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr19:58596656delG	ENST00000240727.6	-	7	1328	c.929delC	c.(928-930)ctfs	p.P310fs	ZSCAN18_ENST00000600404.1_Frame_Shift_Del_p.P366fs|ZSCAN18_ENST00000601144.1_Frame_Shift_Del_p.P310fs|ZSCAN18_ENST00000421612.2_Frame_Shift_Del_p.P174fs	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	23	29	0	44	310					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P310fs*119(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCGTCCCCAGGGGGCGCCTC	0.746000													1	1	1	1	0	1	1.000000	23	52	0	45	1	9.999879e-01	12	38	0	45	4
SOGA1	140710	broad.mit.edu	37	20	35444375	35444376	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:35444375_35444376insC	ENST00000237536.4	-	5	1810_1811	c.1469_1470insG	c.(1468-1470)gccfs	p.A490fs	SOGA1_ENST00000456801.2_Frame_Shift_Ins_p.A93fs|SOGA1_ENST00000357779.3_Frame_Shift_Ins_p.A252fs|SOGA1_ENST00000279034.5_Frame_Shift_Ins_p.A252fs	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	16	33	0	32	252										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GTGCCTCAGGACCCCCACAGCC	0.668000													1	1	1	1	0	1	0.999971	16	50	0	33	0	3.397282e-14	0	1	0	33	4
CHD6	0	broad.mit.edu	37	20	40084461	40084461	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr20:40084461delC	ENST00000373233.3	-	19	3165	c.2988delG	c.(2986-2988)ggfs	p.G996fs	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	115	299	0	293	996					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGGACCCTTTCCCCTCAGACT	0.488000													1	1	0	1	0	1	1.000000	115	420	0	300	0	2.960684e-01	1	4	0	300	3
SCAF4	57466	broad.mit.edu	37	21	33068894	33068896	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:33068894_33068896delGGA	ENST00000286835.7	-	8	1327_1329	c.945_947delTCC	c.(943-948)cca>cc	p.PP315del	SCAF4_ENST00000399804.1_In_Frame_Del_p.PP315del|SCAF4_ENST00000434667.3_In_Frame_Del_p.PP300del	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	16	39	0	69	315	Poly-Pro.					nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGGTGCCTGTGGAGGAGGAGGAG	0.512000													1	1	1	1	0	1	0.999993	18	55	0	72	0	4.699035e-01	1	5	0	72	4
MCM3AP	8888	broad.mit.edu	37	21	47662805	47662805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr21:47662805delA	ENST00000397708.1	-	26	5591	c.5337delT	c.(5335-5337)ttfs	p.F1779fs	MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.F1779fs|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	40	71	0	106	1779					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.K1780fs*5(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AATCGTTTTTAAAAAAATACA	0.433000													1	1	1	1	0	1	1.000000	40	112	0	107	1	9.999939e-01	8	49	0	107	4
TUBA8	51807	broad.mit.edu	37	22	18609160	18609161	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:18609160_18609161delCA	ENST00000330423.3	+	4	488_489	c.415_416delCA	c.(415-417)cfs	p.H139fs	TUBA8_ENST00000316027.6_Frame_Shift_Del_p.H73fs	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	61	122	0	173	139					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CCTGATTTTCCACAGTTTTGGT	0.520000													1	1	1	1	0	1	1.000000	61	188	0	174	0	5.452027e-01	1	6	0	174	4
ZDHHC8	29801	broad.mit.edu	37	22	20130522	20130522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:20130522delC	ENST00000334554.7	+	10	1510	c.1369delC	c.(1369-1371)ccfs	p.P458fs	ZDHHC8_ENST00000405930.3_Frame_Shift_Del_p.P458fs|ZDHHC8_ENST00000320602.7_Frame_Shift_Del_p.P366fs	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	28	24	0	40	458						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					TGAGGGGGGGCCCCCCACGCC	0.687000													1	1	1	1	0	1	1.000000	28	54	0	40	1	9.999954e-01	11	35	0	40	4
EIF4ENIF1	56478	broad.mit.edu	37	22	31838994	31838994	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:31838994delT	ENST00000397525.1	-	16	2383	c.2160delA	c.(2158-2160)aafs	p.K720fs	EIF4ENIF1_ENST00000397523.1_Frame_Shift_Del_p.K696fs|EIF4ENIF1_ENST00000382180.2_Frame_Shift_Del_p.K375fs|EIF4ENIF1_ENST00000344710.5_Frame_Shift_Del_p.K546fs|EIF4ENIF1_ENST00000330125.5_Frame_Shift_Del_p.K720fs	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	71	76	0	131	720						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAAGAGCTGCTTTTCCAGATG	0.463000													1	1	1	1	0	1	1.000000	71	152	0	132	1	9.939298e-01	3	17	0	132	4
C22orf24	25775	broad.mit.edu	37	22	32330115	32330117	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:32330115_32330117delAGA	ENST00000248984.3	-	3	636_638	c.470_472delTCT	c.(469-474)tcc>t	p.FS157del	C22orf24_ENST00000543051.1_In_Frame_Del_p.FS224del|C22orf24_ENST00000486651.1_5'UTR	NM_015372.1	NP_056187.1	Q9Y442	CV024_HUMAN	chromosome 22 open reading frame 24	13	21	0	33	157						integral to membrane				central_nervous_system(1)|urinary_tract(1)	2						CAGGACTCGGAGAAGATGTTGCT	0.571000													1	1	1	1	0	1	0.999780	13	35	0	33							4
NPTXR	23467	broad.mit.edu	37	22	39222592	39222592	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:39222592delG	ENST00000333039.2	-	3	1134	c.1011delC	c.(1009-1011)ccfs	p.P337fs		NM_014293.3	NP_055108.2	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	54	107	0	108	337	Pentaxin.					integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGTAGGAGAAGGGGGTGCCCT	0.652000													1	1	1	1	0	1	1.000000	54	167	0	112							4
TCF20	6942	broad.mit.edu	37	22	42606139	42606139	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:42606139delA	ENST00000359486.3	-	1	5309	c.5173delT	c.(5173-5175)atfs	p.Y1725fs	TCF20_ENST00000335626.4_Frame_Shift_Del_p.Y1725fs|TCF20_ENST00000404876.1_Frame_Shift_Del_p.Y26fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	53	74	0	115	1725					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTTGGGGATAAAAAGGTCCA	0.502000													1	1	1	1	0	1	1.000000	53	128	0	117	1	7.884107e-01	2	7	0	117	4
TTLL8	164714	broad.mit.edu	37	22	50488585	50488585	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:50488585delA	ENST00000266182.6	-	2	142	c.143delT	c.(142-144)tgfs	p.L48fs	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Frame_Shift_Del_p.L48fs					tubulin tyrosine ligase-like family, member 8	18	19	0	49											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		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)		GACCTTGGGCAAAAAGTGGAA	0.572000													1	1	1	1	0	1	0.999995	18	39	0	49							4
ARSA	410	broad.mit.edu	37	22	51065756	51065757	+	Frame_Shift_Ins	INS	-	-	C	rs74315455		TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:51065756_51065757insC	ENST00000547307.1	-	2	701_702	c.296_297insG	c.(295-297)gctfs	p.A99fs	ARSA_ENST00000356098.5_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000547805.1_Frame_Shift_Ins_p.A99fs|ARSA_ENST00000395619.3_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000395621.3_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000216124.5_Frame_Shift_Ins_p.A101fs|ARSA_ENST00000453344.2_Frame_Shift_Ins_p.A15fs			P15289	ARSA_HUMAN	arylsulfatase A	8	9	0	16	99			G -> D (in MLD; adult type).|G -> V (in MLD; late-infantile form).			lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		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)	CCAGGGGCAGGCCCCCCCGGGA	0.718000													0	0	1	0	0	1	0.993318	8	18	0	17	1	9.802682e-01	3	17	0	17	1
ACR	49	broad.mit.edu	37	22	51178329	51178330	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chr22:51178329_51178330insC	ENST00000216139.5	+	3	529_530	c.489_490insC	c.(487-492)ctcccafs	p.LP163fs	ACR_ENST00000529621.1_Frame_Shift_Ins_p.LP163fs	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	64	91	0	145	163	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			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		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)		CGGGCTGCCTGCCCCACTTTAA	0.579000													1	1	1	1	0	1	1.000000	64	157	0	145							4
SLC25A6	293	broad.mit.edu	37	X	1508427	1508427	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:1508427delC	ENST00000381401.5	-	2	1019	c.305delG	c.(304-306)gcfs	p.G102fs	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	96	177	0	242	102					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			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		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)	CTTGTCCACGCCCCCCAGGAA	0.607000													1	1	1	1	0	1	1.000000	96	275	0	249	1	1	13	730	0	249	4
ARSE	415	broad.mit.edu	37	X	2854881	2854883	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:2854881_2854883delAGA	ENST00000545496.1	-	11	1677_1679	c.1386_1388delTCT	c.(1384-1389)ctg>ct	p.LL462del	ARSE_ENST00000540563.1_In_Frame_Del_p.LL392del|ARSE_ENST00000381134.3_In_Frame_Del_p.LL437del			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	18	24	0	63	437					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				GAGCAAGGGCAGAAGGTCTTGGC	0.562000													1	1	1	1	0	1	0.999995	18	42	0	65	0	9.728623e-02	1	1	0	65	4
OFD1	8481	broad.mit.edu	37	X	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:13764946delA	ENST00000380567.1	+	9	1154	c.282delA	c.(280-282)gcfs	p.A94fs	OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	36	42	2	75	234	LisH.				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			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAATGGAAGCAAAAAAAAAGT	0.299000													0	0	0	1	0	1	0.999999	36	80	2	78	1	4.920968e-01	2	3	2	78	1
PRRG1	5638	broad.mit.edu	37	X	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)ccfs	p.P135fs	PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	64	125	4	201	135	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488000													1	0	0	1	0	1	1.000000	64	193	4	211	0	6.370656e-02	0	2	4	211	2
RBM10	8241	broad.mit.edu	37	X	47030467	47030469	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:47030467_47030469delGGC	ENST00000377604.3	+	4	984_986	c.242_244delGGC	c.(241-246)agg>a	p.RR83del	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	21	37	0	46	83	Poly-Arg.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.R85delR(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACTCAGCGTAGGCGGCGGCGGCG	0.680000													1	1	1	1	0	1	0.999999	21	61	0	49	0	6.506612e-01	0	8	0	49	4
GATA1	2623	broad.mit.edu	37	X	48652397	48652397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:48652397delC	ENST00000376670.3	+	6	1179	c.1068delC	c.(1066-1068)ggfs	p.G356fs	GATA1_ENST00000376665.3_Intron	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	7	14	0	32	356					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			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TGACACTGGGCCCCCCAGGTA	0.647000			Mis, F		megakaryoblastic leukemia of Downs Syndrome								1	0	1	1	0	1	0.985528	7	21	0	32							3
RNF128	79589	broad.mit.edu	37	X	105937256	105937256	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:105937256delT	ENST00000324342.3	+	1	189	c.24delT	c.(22-24)agfs	p.S8fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	25	30	0	67	0						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATAGGTCCAGTTTTTTTTGGC	0.343000													1	0	0	1	0	1	1.000000	25	56	0	71							2
USP26	83844	broad.mit.edu	37	X	132160788	132160788	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:132160788delA	ENST00000511190.1	-	6	1930	c.1461delT	c.(1459-1461)ttfs	p.F487fs	USP26_ENST00000370832.1_Frame_Shift_Del_p.F487fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.F487fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	109	136	3	261	487					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.G488fs*6(2)|p.F487fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTTCTGCTCCAAAAAAAAGAT	0.383000													1	0	0	1	0	1	1.000000	109	255	3	276							2
GPR112	139378	broad.mit.edu	37	X	135488065	135488065	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N7-A4Y0-01A-12D-A28R-08	TCGA-N7-A4Y0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ffa10f6e-3a4a-42c5-af29-409d32d734f1	14126835-cedc-4c9b-bbb9-8dc9cc5be73e	g.chrX:135488065delT	ENST00000394143.1	+	23	9160	c.8869delT	c.(8869-8871)ttfs	p.F2958fs	GPR112_ENST00000394141.1_Frame_Shift_Del_p.F2753fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.F2753fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.F2711fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.F2958fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	88	156	1	256	2958					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGGGTTTGCATTTTTTGCTTG	0.453000													1	0	0	1	0	1	1.000000	88	248	1	264							2
CASZ1	54897	broad.mit.edu	37	1	10711029	10711029	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:10711029G>A	ENST00000377022.3	-	12	3102	c.2785C>T	c.(2785-2787)Cgc>Tgc	p.R929C	CASZ1_ENST00000344008.5_Missense_Mutation_p.R929C|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	8	19	0	22	929					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	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)		TCTAGACTGCGGTCCTGGGAG	0.711000													1	1	1	1	0	1	0.993042	8	20	0	23	1	8.979063e-01	5	8	0	23	4
KCNC4	3749	broad.mit.edu	37	1	110754451	110754451	+	Silent	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:110754451C>T	ENST00000369787.3	+	1	357	c.330C>T	c.(328-330)taC>taT	p.Y110Y	KCNC4_ENST00000413138.3_Silent_p.Y110Y|KCNC4_ENST00000438661.2_Silent_p.Y110Y	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	23	26	0	54	110					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		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)		TCAACTACTACCGCACCGGCA	0.677000													1	1	1	1	0	1	1.000000	26	27	0	61	1	9.809194e-01	7	3	0	61	4
FAM5C	0	broad.mit.edu	37	1	190067523	190067523	+	Silent	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:190067523C>T	ENST00000367462.3	-	8	2157	c.1926G>A	c.(1924-1926)gaG>gaA	p.E642E	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.E540E	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		101	5	0	193	642						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGTAAATGCTCTCATTACCAT	0.418000													1	1	1	1	1	1	1.000000	102	5	0	195	0	0	0	0	0	195	5
OBSCN	84033	broad.mit.edu	37	1	228511259	228511259	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr1:228511259G>A	ENST00000570156.2	+	67	18549	c.18475G>A	c.(18475-18477)Gag>Aag	p.E6159K	OBSCN_ENST00000422127.1_Missense_Mutation_p.E5202K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E2321K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E5202K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2836K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	21	22	0	17	5202	Ig-like 53.				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			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCCTGGCCGAGAACAGCAT	0.582000													1	1	1	1	1	1	1.000000	21	25	0	18	1	9.999637e-01	16	11	0	18	5
SLC8A1	6546	broad.mit.edu	37	2	40342516	40342516	+	Silent	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:40342516G>A	ENST00000406785.1	-	8	2880	c.2691C>T	c.(2689-2691)atC>atT	p.I897I	SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000332839.4_Silent_p.I933I|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.I897I|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.I925I|SLC8A1_ENST00000542756.1_Silent_p.I928I|SLC8A1_ENST00000406391.2_Silent_p.I897I|SLC8A1_ENST00000405901.3_Silent_p.I928I|SLC8A1_ENST00000405269.1_Silent_p.I897I|SLC8A1_ENST00000403092.1_Silent_p.I933I|SLC8A1_ENST00000402441.1_Silent_p.I897I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	21	49	0	85	933					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTCACCTCCGATTTCTGGCC	0.547000													1	1	1	1	1	1	1.000000	22	53	0	90	0	0	0	1	0	90	5
POLR1A	25885	broad.mit.edu	37	2	86302260	86302260	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:86302260C>T	ENST00000263857.6	-	12	1882	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	POLR1A_ENST00000409681.1_Missense_Mutation_p.G502S			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	12	7	0	27	502					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			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTGCGGCTGCCGTCCTCATTG	0.627000													1	1	1	1	1	1	0.999955	13	8	0	27	1	8.982163e-01	4	1	0	27	5
TMEM131	23505	broad.mit.edu	37	2	98429149	98429149	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:98429149C>G	ENST00000186436.5	-	16	1909	c.1681G>C	c.(1681-1683)Gaa>Caa	p.E561Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	10	18	0	32	561						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTACTTGCTTCTGTAGCACTC	0.308000													1	1	1	1	1	1	0.999699	12	19	0	37	1	9.833685e-01	4	11	0	37	5
CHST10	9486	broad.mit.edu	37	2	101011979	101011979	+	Silent	SNP	A	A	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:101011979A>G	ENST00000264249.3	-	6	910	c.525T>C	c.(523-525)atT>atC	p.I175I	CHST10_ENST00000409701.1_Silent_p.I175I|CHST10_ENST00000542617.1_Silent_p.I223I	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	18	35	0	50	175					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						ACCGCTTCTGAATTTCTGCAT	0.507000													1	1	1	1	1	1	0.999999	20	37	0	55	1	9.990124e-01	8	18	0	55	5
MYO7B	4648	broad.mit.edu	37	2	128350403	128350403	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:128350403G>A	ENST00000389524.4	+	17	2080	c.2027G>A	c.(2026-2028)cGa>cAa	p.R676Q	MYO7B_ENST00000409816.2_Missense_Mutation_p.R676Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.R676Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	5	14	0	16	676	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CGGCAGCTGCGATACTCGGGC	0.667000													1	0	1	1	0	1	0.946083	5	16	0	19	0	0	0	0	0	19	3
MGAT5	4249	broad.mit.edu	37	2	135012115	135012115	+	Silent	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:135012115C>T	ENST00000409645.1	+	2	393	c.141C>T	c.(139-141)cgC>cgT	p.R47R	MGAT5_ENST00000281923.2_Silent_p.R47R|MGAT5_ENST00000468758.1_3'UTR			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	19	39	0	60	47					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CCATGCTGCGCGAGCAGATCC	0.512000													1	1	1	1	1	1	0.999998	19	39	0	63	0	0	1	0	0	63	5
MYO1B	4430	broad.mit.edu	37	2	192227005	192227005	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:192227005C>G	ENST00000392318.3	+	9	920	c.673C>G	c.(673-675)Ctt>Gtt	p.L225V	MYO1B_ENST00000392316.1_Missense_Mutation_p.L225V|MYO1B_ENST00000304164.4_Missense_Mutation_p.L225V|MYO1B_ENST00000339514.4_Missense_Mutation_p.L225V	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	19	25	0	40	225	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TAAACTTAAGCTTGAGAGGGA	0.383000													1	1	1	1	1	1	1.000000	22	26	0	46	1	9.999690e-01	6	22	0	46	5
ABCA12	26154	broad.mit.edu	37	2	215876784	215876784	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:215876784T>G	ENST00000272895.7	-	16	2251	c.2032A>C	c.(2032-2034)Aat>Cat	p.N678H	ABCA12_ENST00000389661.4_Missense_Mutation_p.N360H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	28	79	0	115	678					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		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)		GCCATCTGATTGAGAATCTCT	0.403000													1	1	1	1	1	1	1.000000	28	87	0	126	0	0	0	0	0	126	5
ECEL1	9427	broad.mit.edu	37	2	233346218	233346218	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:233346218G>A	ENST00000304546.1	-	14	2197	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	ECEL1_ENST00000409941.1_Missense_Mutation_p.R661W	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	10	15	0	21	663					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		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)		GGTCTCACCCGCTGGTTGTAG	0.622000													0	0	1	0	0	1	0.998557	10	18	0	21	1	9.729333e-01	5	10	0	21	1
LRRFIP1	9208	broad.mit.edu	37	2	238643971	238643971	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr2:238643971C>G	ENST00000308482.9	+	10	619	c.550C>G	c.(550-552)Cgt>Ggt	p.R184G	LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000392000.4_Intron|LRRFIP1_ENST00000289175.6_Intron	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	5	19	0	36	55					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CTCCGGCTCCCGTGCTGTAAG	0.652000													1	0	1	1	1	1	0.985716	7	20	0	38	1	9.989043e-01	29	19	0	38	4
UQCRC1	7384	broad.mit.edu	37	3	48646687	48646687	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr3:48646687G>C	ENST00000203407.5	-	2	534	c.118C>G	c.(118-120)Cag>Gag	p.Q40E		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	35	1	0	45	40					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	TGGAGCGCCTGAGCGAAGGTT	0.667000													1	1	1	1	1	1	1.000000	36	1	0	47	1	1	157	8	0	47	5
PIK3CA	5290	broad.mit.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	32	18	0	23	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (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.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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	0.363000		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	35	19	0	24	1	8.587314e-01	4	0	0	24	5
ATP11B	23200	broad.mit.edu	37	3	182597349	182597349	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr3:182597349T>G	ENST00000323116.5	+	20	2578	c.2318T>G	c.(2317-2319)cTc>cGc	p.L773R		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	45	24	0	54	773					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			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	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)			TCTCTTGCACTCAGGGAGCAT	0.378000													1	1	1	1	1	1	1.000000	51	26	0	64	0	0	0	1	0	64	5
SH3TC1	54436	broad.mit.edu	37	4	8229382	8229382	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr4:8229382G>C	ENST00000539824.1	+	12	2107	c.1733G>C	c.(1732-1734)cGg>cCg	p.R578P	SH3TC1_ENST00000245105.3_Missense_Mutation_p.R654P			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	19	15	0	47	654							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCGCTGCGGCGGGCGGTGGGT	0.726000													1	1	1	1	0	1	1.000000	21	19	0	47	0	0	0	1	0	47	4
PRSS12	8492	broad.mit.edu	37	4	119237434	119237434	+	Missense_Mutation	SNP	G	G	C	rs139059047		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr4:119237434G>C	ENST00000296498.3	-	6	1477	c.1195C>G	c.(1195-1197)Cgc>Ggc	p.R399G		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	14	23	0	68	399	SRCR 3.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						ACCTCCAAGCGACCCTCATGG	0.458000													1	1	1	1	0	1	0.999986	16	24	0	72	0	1.617336e-01	1	1	0	72	4
SPATA5	166378	broad.mit.edu	37	4	123855466	123855466	+	Silent	SNP	G	G	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr4:123855466G>T	ENST00000274008.3	+	5	789	c.720G>T	c.(718-720)ctG>ctT	p.L240L	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	23	29	0	62	240					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGTTAGATCTGGAGGATACCC	0.428000													1	1	1	1	1	1	1.000000	23	30	0	66	0	0	0	0	0	66	5
TENM3	55714	broad.mit.edu	37	4	183600828	183600828	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr4:183600828G>A	ENST00000511685.1	+	8	1459	c.1336G>A	c.(1336-1338)Gtg>Atg	p.V446M	TENM3_ENST00000406950.2_Missense_Mutation_p.V446M					teneurin transmembrane protein 3	12	27	0	60																		GTATGACTTCGTGGAGCTCCT	0.532000													1	1	1	1	1	1	0.999919	14	27	0	68	0	1.268499e-01	0	2	0	68	5
NPR3	4883	broad.mit.edu	37	5	32712485	32712485	+	Silent	SNP	A	A	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:32712485A>C	ENST00000265074.8	+	1	946	c.603A>C	c.(601-603)gcA>gcC	p.A201A	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415167.2_Silent_p.A201A	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	26	133	0	93	201					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			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GCCGCGCTGCACTGGTCTACA	0.632000													1	1	1	1	1	1	1.000000	27	136	0	96	0	0	0	0	0	96	5
FGF10	2255	broad.mit.edu	37	5	44305205	44305205	+	Silent	SNP	C	C	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:44305205C>A	ENST00000264664.4	-	3	633	c.519G>T	c.(517-519)ggG>ggT	p.G173G		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	30	129	0	93	173					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			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					ACATTTGCCTCCCATTATGCT	0.413000													1	1	1	1	1	1	1.000000	33	138	0	99	0	0	0	1	0	99	5
PDE4D	5144	broad.mit.edu	37	5	58289244	58289244	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:58289244G>C	ENST00000340635.6	-	7	1145	c.970C>G	c.(970-972)Cgg>Ggg	p.R324G	PDE4D_ENST00000358923.6_Missense_Mutation_p.R22G|PDE4D_ENST00000507116.1_Missense_Mutation_p.R260G|PDE4D_ENST00000360047.5_Missense_Mutation_p.R188G|PDE4D_ENST00000317118.8_Missense_Mutation_p.R33G|PDE4D_ENST00000502484.2_Missense_Mutation_p.R263G|PDE4D_ENST00000405755.2_Missense_Mutation_p.R202G|PDE4D_ENST00000503258.1_Missense_Mutation_p.R194G|PDE4D_ENST00000546160.1_Missense_Mutation_p.R263G	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	10	16	0	37	324					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)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		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)	TTTCCAGACCGACTCATTTCA	0.318000													1	1	1	1	0	1	0.999379	11	16	0	45	1	3.564516e-01	2	1	0	45	4
PCDHA2	0	broad.mit.edu	37	5	140174613	140174613	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:140174613G>A	ENST00000526136.1	+	1	64	c.64G>A	c.(64-66)Gca>Aca	p.A22T	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A22T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A22T	NM_018905.2	NP_061728.1				30	30	0	78											NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCTCCTCGCAGCCTGGGA	0.622000													1	1	1	1	1	1	1.000000	30	31	0	77	0	0	0	0	0	77	5
PCDHB6	0	broad.mit.edu	37	5	140531787	140531787	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:140531787G>C	ENST00000231136.1	+	1	1949	c.1949G>C	c.(1948-1950)cGc>cCc	p.R650P	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R514P	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		43	40	0	117	650	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCCTCCGCGCTCGGCCACC	0.701000													1	1	1	1	0	1	1.000000	45	40	0	110	0	0	0	0	0	110	4
SRPK1	6732	broad.mit.edu	37	6	35806169	35806169	+	Silent	SNP	C	C	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr6:35806169C>G	ENST00000373825.2	-	15	2013	c.1728G>C	c.(1726-1728)gtG>gtC	p.V576V	SRPK1_ENST00000423325.2_Silent_p.V560V|SRPK1_ENST00000373822.1_Intron			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	3	11	0	15	576	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GCTTGCGAGGCACCTTCCCCA	0.383000													0	0	0	0	1	1	0.813480	3	13	0	16	1	7.394636e-01	4	9	0	16	1
OPRM1	4988	broad.mit.edu	37	6	154360937	154360937	+	Silent	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr6:154360937C>T	ENST00000414028.2	+	1	308	c.258C>T	c.(256-258)ttC>ttT	p.F86F	OPRM1_ENST00000435918.2_Silent_p.F86F|OPRM1_ENST00000337049.4_Silent_p.F86F|OPRM1_ENST00000428397.2_Silent_p.F86F|OPRM1_ENST00000330432.7_Silent_p.F86F|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000419506.2_Silent_p.F86F|OPRM1_ENST00000360422.4_Silent_p.F86F|OPRM1_ENST00000452687.2_Silent_p.F86F|OPRM1_ENST00000434900.2_Silent_p.F179F|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000229768.5_Silent_p.F86F|OPRM1_ENST00000524163.1_Silent_p.F86F	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	21	52	0	39	86					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		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)	TGGGGCTCTTCGGAAACTTCC	0.592000													1	1	1	1	1	1	1.000000	22	57	0	42	0	0	0	0	0	42	5
TIAM2	26230	broad.mit.edu	37	6	155450635	155450635	+	Missense_Mutation	SNP	C	C	T	rs141887143		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr6:155450635C>T	ENST00000461783.3	+	6	1551	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Missense_Mutation_p.T93M|TIAM2_ENST00000318981.5_Missense_Mutation_p.T93M|TIAM2_ENST00000360366.4_Missense_Mutation_p.T93M|TIAM2_ENST00000456144.1_Missense_Mutation_p.T93M			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	3	59	0	64	93					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			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCCTACTCCACGCACAGGACA	0.552000													1	0	0	1	0	1	0.939947	5	64	0	72	0	0	0	0	0	72	2
DNAH11	8701	broad.mit.edu	37	7	21789392	21789392	+	Missense_Mutation	SNP	G	G	A	rs72657369		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr7:21789392G>A	ENST00000328843.6	+	54	8822	c.8791G>A	c.(8791-8793)Gtg>Atg	p.V2931M	DNAH11_ENST00000409508.3_Missense_Mutation_p.V2924M			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	21	17	0	41	2931	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGCTTCCTCGTGCTGATTAA	0.428000									Kartagener syndrome				1	1	1	1	1	1	1.000000	22	18	0	44	0	0	0	0	0	44	5
ZNF107	51427	broad.mit.edu	37	7	64167232	64167232	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr7:64167232G>A	ENST00000395391.1	+	4	1925	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	ZNF107_ENST00000344930.3_Missense_Mutation_p.E184K|ZNF107_ENST00000423627.1_Missense_Mutation_p.E184K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	11	21	0	56	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AATTCATACTGAAGAGAAACC	0.368000													1	1	1	1	1	1	0.999250	11	22	0	61	1	4.235589e-01	3	1	0	61	5
STEAP4	79689	broad.mit.edu	37	7	87912423	87912423	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr7:87912423G>A	ENST00000380079.4	-	3	618	c.517C>T	c.(517-519)Ctt>Ttt	p.L173F	AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.L173F|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	18	20	0	53	173					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			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GTAAGTCCAAGATTACGAACA	0.388000													1	1	1	1	1	1	1.000000	20	20	0	55	0	0	0	0	0	55	5
CEP41	95681	broad.mit.edu	37	7	130080807	130080807	+	Translation_Start_Site	SNP	T	T	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr7:130080807T>C	ENST00000223208.4	-	1	271	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CEP41_ENST00000489512.1_Start_Codon_SNP_p.M1V|CEP41_ENST00000495702.1_5'UTR|CEP41_ENST00000541543.1_Start_Codon_SNP_p.M1V|CEP41_ENST00000343969.5_Start_Codon_SNP_p.M1V	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	17	31	0	99	1					G2/M transition of mitotic cell cycle	centrosome|cytosol											CGGAGGGACATATTTTCTCCA	0.632000													1	0	1	1	0	1	0.999996	18	34	0	113	0	0	1	0	0	113	3
EPHB6	0	broad.mit.edu	37	7	142562260	142562260	+	Silent	SNP	C	C	A	rs148221019		TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr7:142562260C>A	ENST00000392957.2	+	7	1489	c.702C>A	c.(700-702)gcC>gcA	p.A234A	EPHB6_ENST00000442129.1_Silent_p.A234A|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	41	78	0	157	234	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTGCCCTGCCGTGCTCCGAT	0.667000													1	0	1	1	1	1	1.000000	43	85	0	159	0	0	0	0	0	159	4
EPPK1	83481	broad.mit.edu	37	8	144940592	144940592	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr8:144940592C>T	ENST00000525985.1	-	2	6901	c.6830G>A	c.(6829-6831)cGc>cAc	p.R2277H				P58107	EPIPL_HUMAN	epiplakin 1	13	263	0	141	2277						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	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)			CCTCAGGTTGCGCACGGGGTC	0.726000													1	1	1	1	0	1	0.999883	15	277	0	147	0	3.136170e-03	0	2	0	147	4
MFSD3	113655	broad.mit.edu	37	8	145735980	145735980	+	Splice_Site	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr8:145735980G>A	ENST00000301327.4	+	3	1090		c.e3-1			NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	164	158	0	197						transmembrane transport	integral to membrane				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	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)			CCCCATCCCAGGAAACTGCTG	0.637000													1	1	1	1	1	1	1.000000	175	170	0	217	1	1	10	22	0	217	5
ANGPTL2	23452	broad.mit.edu	37	9	129853995	129853995	+	Silent	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr9:129853995G>A	ENST00000373425.3	-	4	1853	c.1236C>T	c.(1234-1236)aaC>aaT	p.N412N	RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Silent_p.N110N|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	99	94	0	279	412	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						ACTGCTTGCCGTTGTGCCATG	0.537000													1	1	1	1	1	1	1.000000	103	103	0	293	1	1	34	52	0	293	5
OR51A7	119687	broad.mit.edu	37	11	4929145	4929145	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:4929145G>C	ENST00000359350.4	+	1	546	c.546G>C	c.(544-546)caG>caC	p.Q182H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	21	41	0	77	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		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)		GTCTTCATCAGGATACCATGA	0.403000													1	1	1	1	1	1	1.000000	21	41	0	85	0	0	0	0	0	85	5
OR9Q2	219957	broad.mit.edu	37	11	57958846	57958846	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:57958846A>G	ENST00000311591.3	+	1	941	c.884A>G	c.(883-885)aAg>aGg	p.K295R		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	32	49	0	76	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTGAGAAACAAGGAGGTAAAA	0.498000													1	1	1	1	1	1	1.000000	36	53	0	81	0	0	0	0	0	81	5
NRXN2	9379	broad.mit.edu	37	11	64453157	64453157	+	Silent	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:64453157G>A	ENST00000265459.6	-	6	1574	c.1113C>T	c.(1111-1113)aaC>aaT	p.N371N	NRXN2_ENST00000409571.1_Silent_p.N371N|NRXN2_ENST00000377551.1_Silent_p.N371N|NRXN2_ENST00000377559.3_Silent_p.N347N	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	62	65	0	150	371	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CGTGCCAGGCGTTGTCGTTGA	0.592000													1	1	1	1	1	1	1.000000	67	72	0	162	0	0	0	0	0	162	5
MOGAT2	80168	broad.mit.edu	37	11	75439191	75439191	+	Splice_Site	SNP	T	T	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:75439191T>C	ENST00000526712.1	+	3	1177		c.e3+2		MOGAT2_ENST00000198801.5_Splice_Site			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	15	3	0	31						glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GACACACGGGTATCAAGCCTC	0.547000													1	1	1	1	1	1	0.999999	15	3	0	31	0	0	0	0	0	31	5
CRTAM	56253	broad.mit.edu	37	11	122726442	122726442	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:122726442G>A	ENST00000227348.4	+	5	577	c.530G>A	c.(529-531)tGt>tAt	p.C177Y		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	16	25	0	81	177	Ig-like C2-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		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;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGGAAGAAATGTAATACTACC	0.413000													1	1	1	1	1	1	0.999993	17	27	0	90	0	0	0	0	0	90	5
VWA5A	4013	broad.mit.edu	37	11	124006949	124006949	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr11:124006949C>G	ENST00000456829.2	+	13	1724	c.1473C>G	c.(1471-1473)atC>atG	p.I491M	VWA5A_ENST00000392748.1_Missense_Mutation_p.I491M|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	26	39	1	88	491								p.I491I(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AGACTGTCATCTTTAGGGGTC	0.493000													1	0	1	1	1	1	0.999999	27	40	1	93	0	0	0	1	1	93	4
KMT2D	8085	broad.mit.edu	37	12	49445979	49445979	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr12:49445979G>A	ENST00000301067.7	-	10	1486	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	20	78	0	126																		CTCAGGCGGCGGAGAGAGGGG	0.617000													1	1	1	1	1	1	0.999998	20	80	0	131	0	0	0	0	0	131	5
KIF5A	3798	broad.mit.edu	37	12	57972082	57972082	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr12:57972082T>G	ENST00000455537.2	+	23	2769	c.2495T>G	c.(2494-2496)tTt>tGt	p.F832C	KIF5A_ENST00000286452.5_Missense_Mutation_p.F743C	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	41	113	0	155	832					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AAGATTTCCTTTCTTGAGAAC	0.478000													1	1	1	1	1	1	1.000000	41	122	0	166	0	0	0	0	0	166	5
SACS	26278	broad.mit.edu	37	13	23908318	23908318	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr13:23908318T>C	ENST00000382298.3	-	10	10285	c.9697A>G	c.(9697-9699)Aag>Gag	p.K3233E	SACS_ENST00000382292.3_Missense_Mutation_p.K3233E|SACS_ENST00000402364.1_Missense_Mutation_p.K2483E	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	22	40	0	39	3233					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			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		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)		TCTTTCCACTTTGTGCAACTT	0.358000													1	1	1	1	1	1	1.000000	23	45	0	41	1	9.988471e-01	11	15	0	41	5
B3GALTL	145173	broad.mit.edu	37	13	31835102	31835102	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr13:31835102C>T	ENST00000343307.4	+	7	628	c.479C>T	c.(478-480)gCa>gTa	p.A160V	B3GALTL_ENST00000461652.2_3'UTR	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	7	8	0	31	160					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TTGGGAAAAGCATTACATGAT	0.348000													1	0	1	1	1	1	0.995588	8	8	0	33	0	5.000000e-01	1	2	0	33	4
OR4K2	390431	broad.mit.edu	37	14	20344949	20344949	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr14:20344949G>T	ENST00000298642.2	+	1	559	c.523G>T	c.(523-525)Gac>Tac	p.D175Y		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	124	229	0	331	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGAGGTAGACAGCTTTTT	0.458000													1	1	1	1	1	1	1.000000	134	252	0	365	0	0	0	0	0	365	5
LRP10	26020	broad.mit.edu	37	14	23345059	23345059	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr14:23345059C>G	ENST00000359591.4	+	5	1593	c.902C>G	c.(901-903)aCc>aGc	p.T301S	LRP10_ENST00000546834.1_Missense_Mutation_p.T301S	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	24	39	0	71	301	CUB 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TTCAATGCCACCTACCATGTG	0.582000													1	1	1	1	1	1	1.000000	25	44	0	75	1	9.831181e-01	3	12	0	75	5
OR2C1	4993	broad.mit.edu	37	16	3406726	3406726	+	Silent	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr16:3406726G>A	ENST00000304936.2	+	1	838	c.786G>A	c.(784-786)ccG>ccA	p.P262P		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	15	38	1	86	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATCTGCTTCCGGCCAAGAACA	0.552000													1	0	1	1	1	1	0.998237	16	41	2	92	0	0	0	0	2	92	4
TRADD	8717	broad.mit.edu	37	16	67189313	67189313	+	Silent	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr16:67189313C>T	ENST00000345057.4	-	3	864	c.396G>A	c.(394-396)gaG>gaA	p.E132E	TRADD_ENST00000486556.1_Silent_p.E72E	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	19	1	0	23	132					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			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AACAGCGCTCCTCGTCCGCCA	0.711000													1	1	1	1	0	1	1.000000	22	1	0	27	1	9.999357e-01	6	0	0	27	4
NLRP1	22861	broad.mit.edu	37	17	5485302	5485302	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr17:5485302G>C	ENST00000345221.3	-	3	1083	c.529C>G	c.(529-531)Ccc>Gcc	p.P177A	NLRP1_ENST00000572272.1_Missense_Mutation_p.P177A|NLRP1_ENST00000269280.4_Missense_Mutation_p.P177A|NLRP1_ENST00000577119.1_Missense_Mutation_p.P177A|NLRP1_ENST00000354411.3_Missense_Mutation_p.P177A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Missense_Mutation_p.P177A	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	18	24	0	59	177					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			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTGGATGTGGGGGCGTTGGGT	0.597000													1	1	1	1	1	1	0.999997	18	24	0	62	0	0	0	1	0	62	5
TP53	7157	broad.mit.edu	37	17	7577569	7577569	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr17:7577569A>G	ENST00000420246.2	-	7	844	c.712T>C	c.(712-714)Tgt>Cgt	p.C238R	TP53_ENST00000445888.2_Missense_Mutation_p.C238R|TP53_ENST00000359597.4_Missense_Mutation_p.C238R|TP53_ENST00000455263.2_Missense_Mutation_p.C238R|TP53_ENST00000269305.4_Missense_Mutation_p.C238R|TP53_ENST00000413465.2_Missense_Mutation_p.C238R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	41	6	0	79	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (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 -> 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238R(14)|p.C238S(12)|p.0?(8)|p.?(5)|p.C238G(4)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.C238fs*2(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.C145G(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.M237fs*1(1)|p.C238fs*9(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GAACTGTTACACATGTAGTTG	0.567000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	46	7	0	88	1	1	51	0	0	88	5
TMEM97	27346	broad.mit.edu	37	17	26652535	26652535	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr17:26652535A>C	ENST00000226230.6	+	2	278	c.133A>C	c.(133-135)Aac>Cac	p.N45H	TMEM97_ENST00000336687.6_5'UTR|TMEM97_ENST00000582113.1_Missense_Mutation_p.N45H|TMEM97_ENST00000583381.1_5'UTR	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	53	27	0	113	45					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding			endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCAGTTTAGAAACCTGCTGAA	0.468000													1	1	1	1	1	1	1.000000	60	31	0	126	1	9.999999e-01	15	6	0	126	5
RNF43	54894	broad.mit.edu	37	17	56434921	56434921	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr17:56434921G>A	ENST00000584437.1	-	8	4171	c.2216C>T	c.(2215-2217)cCa>cTa	p.P739L	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Missense_Mutation_p.P612L|RNF43_ENST00000500597.2_Missense_Mutation_p.P698L|RNF43_ENST00000577716.1_Missense_Mutation_p.P739L|RNF43_ENST00000577625.1_Missense_Mutation_p.P612L|RNF43_ENST00000407977.2_Missense_Mutation_p.P739L|RNF43_ENST00000583753.1_Missense_Mutation_p.P698L			Q68DV7	RNF43_HUMAN	ring finger protein 43	44	83	0	132	739	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCCCCAGGTGGATGTGGTTC	0.607000													1	1	1	1	1	1	1.000000	49	86	0	143	0	0	0	1	0	143	5
MBD1	4152	broad.mit.edu	37	18	47799975	47799975	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr18:47799975C>G	ENST00000591416.1	-	12	1836	c.1405G>C	c.(1405-1407)Gtg>Ctg	p.V469L	MBD1_ENST00000585672.1_Missense_Mutation_p.V419L|MBD1_ENST00000347968.3_Missense_Mutation_p.V413L|MBD1_ENST00000353909.3_Missense_Mutation_p.V420L|MBD1_ENST00000436910.1_Missense_Mutation_p.V446L|MBD1_ENST00000382948.5_Missense_Mutation_p.V469L|MBD1_ENST00000585595.1_Missense_Mutation_p.V494L|MBD1_ENST00000339998.6_Missense_Mutation_p.V469L|MBD1_ENST00000588937.1_Missense_Mutation_p.V446L|MBD1_ENST00000398488.1_Missense_Mutation_p.V413L|MBD1_ENST00000269471.5_Missense_Mutation_p.V446L|MBD1_ENST00000587605.1_Missense_Mutation_p.V413L|MBD1_ENST00000349085.2_Missense_Mutation_p.V413L|MBD1_ENST00000398495.2_Missense_Mutation_p.V438L|MBD1_ENST00000457839.2_Missense_Mutation_p.V494L|MBD1_ENST00000424334.2_Missense_Mutation_p.V520L|MBD1_ENST00000591535.1_Missense_Mutation_p.V446L|MBD1_ENST00000398493.1_Missense_Mutation_p.V413L|MBD1_ENST00000590208.1_Missense_Mutation_p.V469L|MBD1_ENST00000269468.5_Missense_Mutation_p.V469L			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	21	20	0	67	469					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			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						GGGCCCGGCACCTGCACAGGA	0.642000													1	1	1	1	1	1	1.000000	21	20	0	69	1	9.999633e-01	12	12	0	69	5
ICAM4	3386	broad.mit.edu	37	19	10398002	10398002	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr19:10398002G>C	ENST00000393717.2	+	1	323	c.314G>C	c.(313-315)aGg>aCg	p.R105T	ICAM4_ENST00000340992.4_Missense_Mutation_p.R105T|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Missense_Mutation_p.R105T	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	10	29	0	36	105	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CTCGACGTGAGGGCCTGGAGC	0.667000													1	1	1	1	1	1	0.998022	10	33	0	38	1	2.569380e-01	2	2	0	38	5
PLCB4	5332	broad.mit.edu	37	20	9343593	9343593	+	Silent	SNP	C	C	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr20:9343593C>T	ENST00000378501.2	+	5	435	c.420C>T	c.(418-420)aaC>aaT	p.N140N	PLCB4_ENST00000414679.2_Silent_p.N140N|PLCB4_ENST00000378493.1_Silent_p.N140N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.N140N|PLCB4_ENST00000334005.3_Silent_p.N140N|PLCB4_ENST00000278655.4_Silent_p.N140N	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	8	7	0	18	140					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGGCCAACAACGTCAGTCCAA	0.413000													1	1	1	1	1	1	0.999329	10	7	0	21	0	0	0	0	0	21	5
RIPPLY3	53820	broad.mit.edu	37	21	38390374	38390374	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr21:38390374G>C	ENST00000329553.2	+	4	650	c.440G>C	c.(439-441)gGc>gCc	p.G147A	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3	16	17	0	43																		CAGGAAAATGGCCCAGGGGGA	0.632000													1	1	1	1	1	1	0.999992	16	17	0	44	0	0	0	0	0	44	5
FBN2	2201	broad.mit.edu	37	5	127670459	127670459	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr5:127670459delG	ENST00000508053.1	-	37	5025	c.4051delC	c.(4051-4053)acfs	p.H1351fs	FBN2_ENST00000508989.1_Frame_Shift_Del_p.H1318fs|FBN2_ENST00000507835.1_Frame_Shift_Del_p.H201fs|FBN2_ENST00000262464.4_Frame_Shift_Del_p.H1351fs			P35556	FBN2_HUMAN	fibrillin 2	26	30	0	74	1351	EGF-like 21; 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			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		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)		AGCTGACAGTGGCAAATGAAG	0.398000													1	1	1	1	0	1	1.000000	26	57	0	76	0	1.034200e-01	0	2	0	76	4
HIST1H2BJ	8970	broad.mit.edu	37	6	27100294	27100295	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08			-	T	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr6:27100294_27100295insT	ENST00000607124.1	-	1	234_235	c.235_236insA	c.(235-237)ccgfs	p.P79fs	HIST1H2BJ_ENST00000339812.2_Frame_Shift_Ins_p.P79fs|HIST1H2BJ_ENST00000541790.1_Frame_Shift_Ins_p.P79fs			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	117	73	0	228	79					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CGCCAGGCGGGAAGCCTCACCT	0.604000													1	1	1	1	0	1	1.000000	117	191	0	233	0	9.997596e-01	0	24	0	233	4
ARHGAP35	2909	broad.mit.edu	37	19	47491244	47491249	+	Splice_Site	DEL	AGGACT	AGGACT	-			TCGA-N7-A4Y5-01A-12D-A28R-08	TCGA-N7-A4Y5-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42067f30-2429-4387-b816-990afa9365e3	ae33ea51-4262-478c-b4d9-1eb469541715	g.chr19:47491244_47491249delAGGACT	ENST00000404338.3	+	3	3826_3830	c.3826_splice	c.e3-1	p.1276_splice		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	13	9	0	33	1276	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	p.G1276V(4)|p.?(2)									GTTTCTCCTCAGGACTGAGCACGGAA	0.558000													1	1	1	1	0	1	0.999825	13	26	0	34	0	8.790248e-01	0	10	0	34	4
DVL1	1855	broad.mit.edu	37	1	1273765	1273765	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:1273765C>T	ENST00000378888.5	-	13	1675	c.1391G>A	c.(1390-1392)cGg>cAg	p.R464Q	DVL1_ENST00000378891.5_Missense_Mutation_p.R439Q			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	20	41	0	66	464	DEP.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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;2.83e-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)		GGCCTCCCGCCGCTCCTTGAA	0.657000													1	1	1	1	0	1	0.999999	20	57	0	69	1	1	45	133	0	69	4
SRM	6723	broad.mit.edu	37	1	11115122	11115122	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:11115122G>A	ENST00000376957.2	-	7	865	c.785C>T	c.(784-786)cCg>cTg	p.P262L		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	30	62	1	88	262					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	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)	CGGCTGCACCGGCTCCTGGAA	0.602000													1	0	1	1	0	1	1.000000	36	68	1	102	1	1	686	1288	1	102	3
SRRM1	10250	broad.mit.edu	37	1	24998725	24998725	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:24998725G>A	ENST00000323848.9	+	17	2978	c.2663G>A	c.(2662-2664)cGt>cAt	p.R888H	SRRM1_ENST00000447431.2_Missense_Mutation_p.R900H|SRRM1_ENST00000374389.4_Missense_Mutation_p.R897H	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	14	12	0	12	888					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			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		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)		AAGCACCTGCGTGAAAAGGCC	0.413000													0	1	1	1	1	1	0.999997	17	15	0	13	1	1	26	22	0	13	4
PTPRF	5792	broad.mit.edu	37	1	44057543	44057543	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:44057543C>A	ENST00000359947.4	+	10	1932	c.1592C>A	c.(1591-1593)tCg>tAg	p.S531*	PTPRF_ENST00000422171.2_De_novo_Start_OutOfFrame|PTPRF_ENST00000372413.3_Nonsense_Mutation_p.S531*|PTPRF_ENST00000438120.1_Nonsense_Mutation_p.S531*|PTPRF_ENST00000372414.3_Nonsense_Mutation_p.S531*	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	36	37	0	69	531	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCCAGCTCTCGTGGCTGCTG	0.632000													1	1	1	1	1	1	1.000000	40	37	0	71	0	0	0	0	0	71	5
NRD1	4898	broad.mit.edu	37	1	52272573	52272573	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:52272573G>A	ENST00000354831.7	-	20	2396	c.2207C>T	c.(2206-2208)aCg>aTg	p.T736M	NRD1_ENST00000544028.1_Missense_Mutation_p.T536M|NRD1_ENST00000539524.1_Missense_Mutation_p.T604M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.T668M	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	20	67	0	62	667					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			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGCCTTCAACGTAAAGTCCGT	0.373000													1	1	1	1	1	1	0.999999	21	73	0	67	1	9.999955e-01	28	53	0	67	5
PDE4DIP	9659	broad.mit.edu	37	1	144931280	144931280	+	Silent	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:144931280C>T	ENST00000529945.1	-	1	868	c.429G>A	c.(427-429)gaG>gaA	p.E143E	PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Silent_p.E143E|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000479408.2_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	67	209	0	169	0			K -> E (in dbSNP:rs1747958).		cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GATCCTCATTCTCCACCCAGC	0.582000			T	PDGFRB	MPD								1	1	1	1	1	1	1.000000	70	215	0	177	0	0	0	0	0	177	5
LRRN2	10446	broad.mit.edu	37	1	204588977	204588977	+	Silent	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:204588977G>A	ENST00000367175.1	-	1	2356	c.144C>T	c.(142-144)cgC>cgT	p.R48R	LRRN2_ENST00000367177.3_Silent_p.R48R|LRRN2_ENST00000367176.3_Silent_p.R48R			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	23	77	0	51	48	LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	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)			TGGTAGCCTCGCGGTAGGACG	0.657000													1	1	1	1	1	1	1.000000	24	81	0	54	0	5.624784e-02	0	2	0	54	5
ACTA1	58	broad.mit.edu	37	1	229568733	229568733	+	Splice_Site	SNP	C	C	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:229568733C>A	ENST00000366684.3	-	2	232		c.e2+1		ACTA1_ENST00000366683.2_Splice_Site	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	20	61	0	62						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			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GGCAGCCTGACCTGGTGTCGG	0.721000													1	1	1	1	0	1	1.000000	22	66	0	64	0	3.728198e-01	0	5	0	64	4
GNPAT	8443	broad.mit.edu	37	1	231411221	231411221	+	Silent	SNP	C	C	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:231411221C>G	ENST00000366647.4	+	14	2083	c.1914C>G	c.(1912-1914)ctC>ctG	p.L638L	GNPAT_ENST00000366646.3_Silent_p.L577L|GNPAT_ENST00000469332.1_3'UTR	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	5	80	0	52	638					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GTGTGAGGCTCGGAGTAGTGG	0.423000													1	1	0	1	0	1	0.981986	7	86	0	57	1	9.999938e-01	25	406	0	57	3
CHRM3	1131	broad.mit.edu	37	1	240070975	240070975	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr1:240070975C>T	ENST00000255380.4	+	5	1003	c.224C>T	c.(223-225)aCg>aTg	p.T75M		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	23	71	0	71	75					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			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	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)	GCTTTCTTAACGGGCATCCTG	0.507000													1	1	1	1	1	1	1.000000	25	72	0	73	0	0	0	0	0	73	5
CCDC104	112942	broad.mit.edu	37	2	55771473	55771473	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr2:55771473G>C	ENST00000349456.4	+	9	1043	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	CCDC104_ENST00000407816.3_Missense_Mutation_p.E270Q|CCDC104_ENST00000339012.3_Missense_Mutation_p.E324Q			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	35	47	0	44	299										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACAAAATATGGAGCAGAAAGG	0.398000													1	1	1	1	1	1	1.000000	37	49	0	46	1	1	210	215	0	46	5
TRPC1	7220	broad.mit.edu	37	3	142443429	142443429	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:142443429G>T	ENST00000273482.6	+	1	419	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	TRPC1_ENST00000476941.1_Missense_Mutation_p.D10Y	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	9	21	0	14	10					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			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CCCGAGCACGGACCTCTCGGG	0.716000													1	1	1	1	0	1	0.996475	9	23	0	15	0	0	0	0	0	15	4
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	13	36	0	34	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|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(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	0.999891	14	38	0	37	0	0	0	0	0	37	5
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	10	77	0	43	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(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	0.997427	10	80	0	43	1	9.778720e-01	17	39	0	43	5
LPHN3	23284	broad.mit.edu	37	4	62845387	62845387	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:62845387G>A	ENST00000512091.1	+	17	3455	c.2708G>A	c.(2707-2709)cGg>cAg	p.R903Q	LPHN3_ENST00000506720.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R903Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	76	75	0	151	890					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGCTTTTTCCGGGGGCTCCAG	0.493000													1	1	1	1	1	1	1.000000	82	78	0	159	0	0	0	0	0	159	5
FBXW7	0	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	31	68	0	116	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	35	74	0	133	0	0	1	0	0	133	5
NPY2R	4887	broad.mit.edu	37	4	156135433	156135433	+	Silent	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:156135433G>A	ENST00000329476.3	+	2	831	c.342G>A	c.(340-342)ggG>ggA	p.G114G	NPY2R_ENST00000506608.1_Silent_p.G114G	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	20	19	0	39	114					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			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCTTAATGGGGGAGTGGAAAA	0.507000													1	1	1	1	1	1	1.000000	21	21	0	42	0	0	0	0	0	42	5
ITGA1	3672	broad.mit.edu	37	5	52193289	52193289	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:52193289C>T	ENST00000282588.6	+	10	1552	c.1094C>T	c.(1093-1095)aCa>aTa	p.T365I		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	6	6	0	24	365					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				GTTATAGCCACAGCTGACCAG	0.393000													1	0	1	1	1	1	0.979771	6	6	0	24	0	0	0	0	0	24	4
TMEM173	340061	broad.mit.edu	37	5	138860776	138860776	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:138860776A>T	ENST00000330794.4	-	4	712	c.379T>A	c.(379-381)Tcg>Acg	p.S127T	TMEM173_ENST00000511850.1_5'UTR	NM_198282.2	NP_938023.1	Q86WV6	TM173_HUMAN	transmembrane protein 173	36	42	0	94	127					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGTGCCTGCGAGAGGCCCAGG	0.622000													1	1	1	1	1	1	1.000000	39	44	0	98	1	1	29	27	0	98	5
PCDHA12	0	broad.mit.edu	37	5	140257222	140257222	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:140257222G>A	ENST00000398631.2	+	1	2165	c.2165G>A	c.(2164-2166)cGt>cAt	p.R722H	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1				31	43	0	75											NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCGCTGCGTTGCTCAGCG	0.657000													1	1	1	1	1	1	1.000000	33	44	0	79	0	0	0	0	0	79	5
GEMIN5	25929	broad.mit.edu	37	5	154299598	154299598	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr5:154299598G>A	ENST00000285873.7	-	11	1603	c.1528C>T	c.(1528-1530)Cat>Tat	p.H510Y		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	16	16	0	48	510					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGGGATTATGCTGTAAGACA	0.413000													1	1	1	1	1	1	0.999991	16	18	0	51	0	0	0	0	0	51	5
NUP153	9972	broad.mit.edu	37	6	17637615	17637615	+	Missense_Mutation	SNP	A	A	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:17637615A>C	ENST00000262077.2	-	16	2232	c.2233T>G	c.(2233-2235)Tgt>Ggt	p.C745G	NUP153_ENST00000537253.1_Missense_Mutation_p.C776G	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	42	116	0	139	745					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			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGTGTTTCACAGGCTACACAT	0.443000													1	1	1	1	1	1	1.000000	47	129	0	157	0	0	0	0	0	157	5
HLA-E	3133	broad.mit.edu	37	6	30457613	30457613	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:30457613A>G	ENST00000376630.4	+	2	240	c.175A>G	c.(175-177)Aac>Gac	p.N59D		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	32	87	0	108	59	Alpha-1.				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			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						GCGCTTCGACAACGACGCCGC	0.672000													1	1	1	1	0	1	1.000000	35	88	0	114	1	9.993938e-01	16	17	0	114	4
AK9	221264	broad.mit.edu	37	6	109815251	109815251	+	Silent	SNP	T	T	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr6:109815251T>C	ENST00000424296.2	-	40	5542	c.5466A>G	c.(5464-5466)ttA>ttG	p.L1822L	RP5-919F19.5_ENST00000423747.1_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9	15	28	0	41																		ACTTGGGCTTTAAGCATCCCG	0.363000													1	1	1	1	1	1	0.999992	17	32	0	49	0	0	0	0	0	49	5
ELN	2006	broad.mit.edu	37	7	73470684	73470684	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:73470684G>A	ENST00000252034.7	+	20	1633	c.1234G>A	c.(1234-1236)Gga>Aga	p.G412R	ELN_ENST00000320399.6_Missense_Mutation_p.G412R|ELN_ENST00000429192.1_Missense_Mutation_p.G417R|ELN_ENST00000380584.4_Missense_Mutation_p.G398R|ELN_ENST00000320492.7_Missense_Mutation_p.G376R|ELN_ENST00000414324.1_Missense_Mutation_p.G407R|ELN_ENST00000380553.4_Missense_Mutation_p.G295R|ELN_ENST00000380562.4_Missense_Mutation_p.G412R|ELN_ENST00000380576.5_Missense_Mutation_p.G412R|ELN_ENST00000380575.4_Missense_Mutation_p.G402R|ELN_ENST00000358929.4_Missense_Mutation_p.G412R|ELN_ENST00000445912.1_Missense_Mutation_p.G412R|ELN_ENST00000466878.1_3'UTR|ELN_ENST00000357036.5_Missense_Mutation_p.G417R|ELN_ENST00000458204.1_Missense_Mutation_p.G402R	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	51	118	0	154	412	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGTCGGAGTCGGAGGTATCCC	0.637000			T	PAX5	B-ALL		Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome						1	1	1	1	1	1	1.000000	59	128	0	162	1	9.999888e-01	15	26	0	162	5
RBM28	55131	broad.mit.edu	37	7	127958088	127958088	+	Silent	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:127958088C>T	ENST00000223073.1	-	15	1749	c.1635G>A	c.(1633-1635)gcG>gcA	p.A545A	RBM28_ENST00000481788.1_Intron|RBM28_ENST00000415472.2_Silent_p.A404A	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	15	28	0	31	545	RRM 4.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTGGAACTCCGCAAAGGCGT	0.512000													1	1	1	1	1	1	0.999961	15	29	0	33	1	9.999732e-01	19	27	0	33	5
PDIA4	9601	broad.mit.edu	37	7	148701262	148701262	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:148701262T>G	ENST00000286091.4	-	10	1794	c.1562A>C	c.(1561-1563)aAg>aCg	p.K521T		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	5	174	0	156	521	Thioredoxin 3.				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			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTTGTTGTTCTTGGGCACTGG	0.562000													0	0	1	0	0	1	0.981177	7	192	0	164	1	9.999050e-01	20	580	0	164	1
PDIA4	9601	broad.mit.edu	37	7	148702238	148702238	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr7:148702238T>C	ENST00000286091.4	-	9	1749	c.1517A>G	c.(1516-1518)aAa>aGa	p.K506R		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	62	162	0	211	506	Thioredoxin 3.				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			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTCACCTTTTTTGAAAGCAGT	0.607000													1	1	1	1	1	1	1.000000	63	178	0	231	1	1	92	339	0	231	5
NRG1	3084	broad.mit.edu	37	8	32616940	32616940	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:32616940G>T	ENST00000338921.4	+	11	1588	c.1071G>T	c.(1069-1071)caG>caT	p.Q357H	NRG1_ENST00000405005.2_Missense_Mutation_p.Q349H|NRG1_ENST00000521670.1_Missense_Mutation_p.Q349H|NRG1_ENST00000287842.3_Missense_Mutation_p.Q346H|NRG1_ENST00000287845.5_Missense_Mutation_p.Q320H|NRG1_ENST00000539990.1_Missense_Mutation_p.Q192H|NRG1_ENST00000523079.1_Missense_Mutation_p.Q346H|NRG1_ENST00000519301.1_Missense_Mutation_p.Q299H|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Missense_Mutation_p.Q349H|NRG1_ENST00000356819.4_Missense_Mutation_p.Q354H			Q02297	NRG1_HUMAN	neuregulin 1	20	66	0	48	349					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	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTGTCACCCAGACTCCTAGCC	0.448000													1	1	1	1	1	1	0.999998	20	69	0	57	0	0	1	0	0	57	5
SLC7A13	157724	broad.mit.edu	37	8	87229900	87229900	+	Silent	SNP	T	T	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:87229900T>G	ENST00000297524.3	-	3	1081	c.978A>C	c.(976-978)ctA>ctC	p.L326L	SLC7A13_ENST00000419776.2_Silent_p.L317L|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	6	146	0	92	326						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GTGTATTAAATAGCAAAGGCA	0.358000													1	0	1	1	0	1	0.981333	7	156	0	104	0	0	0	0	0	104	3
SYBU	55638	broad.mit.edu	37	8	110590123	110590123	+	Silent	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:110590123C>T	ENST00000399066.3	-	5	1576	c.849G>A	c.(847-849)aaG>aaA	p.K283K	SYBU_ENST00000446070.2_Silent_p.K285K|SYBU_ENST00000276646.9_Silent_p.K286K|SYBU_ENST00000529690.1_Silent_p.K156K|SYBU_ENST00000408889.3_Silent_p.K167K|SYBU_ENST00000408908.2_Silent_p.K286K|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000440310.1_Silent_p.K286K|SYBU_ENST00000424158.2_Silent_p.K291K|SYBU_ENST00000532779.1_Silent_p.K218K|SYBU_ENST00000529175.1_Silent_p.K80K|SYBU_ENST00000419099.1_Silent_p.K285K|SYBU_ENST00000433638.1_Silent_p.K286K|SYBU_ENST00000528331.1_Silent_p.K167K|SYBU_ENST00000533065.1_Silent_p.K167K|SYBU_ENST00000533895.1_Silent_p.K285K|SYBU_ENST00000533171.1_Silent_p.K286K|SYBU_ENST00000528647.1_Silent_p.K285K|SYBU_ENST00000422135.1_Silent_p.K286K	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	48	122	0	102	286	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GCTCAGATTCCTTCAGCTTGG	0.478000													1	1	1	1	1	1	1.000000	51	129	0	107	0	0	0	0	0	107	5
ZNF251	90987	broad.mit.edu	37	8	145948368	145948368	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr8:145948368C>T	ENST00000292562.7	-	5	952	c.677G>A	c.(676-678)aGa>aAa	p.R226K	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	51	51	0	60	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	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)		TCTCTGGTGTCTACTTAGGTC	0.428000													1	1	1	1	1	1	1.000000	51	51	0	61	1	9.312527e-01	4	3	0	61	5
COL15A1	1306	broad.mit.edu	37	9	101748168	101748168	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:101748168C>G	ENST00000375001.3	+	3	845	c.422C>G	c.(421-423)cCa>cGa	p.P141R		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	11	86	0	92	141	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TACACGGAGCCAGGCTCCCAT	0.607000													1	1	1	1	1	1	0.998638	11	93	0	97	0	0	0	0	0	97	5
CDK5RAP2	55755	broad.mit.edu	37	9	123169430	123169430	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:123169430C>T	ENST00000349780.4	-	32	5002	c.4823G>A	c.(4822-4824)aGc>aAc	p.S1608N	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1567N|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1576N|CDK5RAP2_ENST00000360190.4_Intron	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	25	38	0	72	1608					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			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GGTTTCGATGCTCCTTTCTAG	0.602000													1	1	1	1	1	1	1.000000	26	39	0	74	1	1	11	50	0	74	5
PRRX2	51450	broad.mit.edu	37	9	132481518	132481518	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:132481518C>T	ENST00000372469.4	+	2	495	c.268C>T	c.(268-270)Ccc>Tcc	p.P90S		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	9	7	0	13	90				P -> S (in Ref. 5; AAB39864).		nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				AGGTGAGTGTCCCAGCCCGGG	0.657000													0	1	1	1	1	1	0.999238	10	8	0	15	1	1	79	71	0	15	4
BMS1	9790	broad.mit.edu	37	10	43317508	43317508	+	Splice_Site	SNP	A	A	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr10:43317508A>G	ENST00000374518.4	+	19	3072		c.e19-1			NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	16	57	0	50						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTCCTGTTAGCCTGATTTT	0.308000													1	1	1	1	1	1	0.999992	18	64	0	55	0	0	0	0	0	55	5
TH	7054	broad.mit.edu	37	11	2186489	2186489	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:2186489C>T	ENST00000381178.1	-	13	1418	c.1400G>A	c.(1399-1401)aGc>aAc	p.S467N	TH_ENST00000333684.5_Missense_Mutation_p.S346N|TH_ENST00000381175.1_Missense_Mutation_p.S463N|TH_ENST00000352909.3_Missense_Mutation_p.S436N	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	6	85	0	115	467					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GTCACTGAAGCTCTCAGACAC	0.622000													1	1	1	1	0	1	0.966593	6	89	0	125	0	0	0	0	0	125	4
OR4C12	283093	broad.mit.edu	37	11	50003749	50003749	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:50003749C>A	ENST00000335238.4	-	1	322	c.289G>T	c.(289-291)Gct>Tct	p.A97S		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	32	83	0	126	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TAGGCTTGAGCCATACACCCA	0.423000													1	1	1	1	1	1	1.000000	33	87	0	132	0	0	0	0	0	132	5
YPEL4	219539	broad.mit.edu	37	11	57413796	57413796	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:57413796A>G	ENST00000524669.1	-	4	2990	c.268T>C	c.(268-270)Tgc>Cgc	p.C90R	YPEL4_ENST00000544993.1_Missense_Mutation_p.C90R|YPEL4_ENST00000534711.1_Missense_Mutation_p.C90R|YPEL4_ENST00000300022.3_Missense_Mutation_p.C90R|AP000662.4_ENST00000530595.1_RNA			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	16	25	0	68	90						nucleolus				lung(2)|skin(1)	3						GTGGTTTTGCAGCTCTCACAG	0.557000													1	1	1	1	1	1	0.999999	19	27	0	75	1	3.785714e-01	2	0	0	75	5
SCYL1	57410	broad.mit.edu	37	11	65302778	65302778	+	Silent	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr11:65302778C>T	ENST00000524944.1	+	10	1344	c.1311C>T	c.(1309-1311)gcC>gcT	p.A437A	SCYL1_ENST00000527630.1_Silent_p.A437A|SCYL1_ENST00000270176.5_Silent_p.A437A|SCYL1_ENST00000525364.1_Silent_p.A437A|SCYL1_ENST00000420247.2_Silent_p.A437A|SCYL1_ENST00000533862.1_Silent_p.A437A|SCYL1_ENST00000279270.6_Silent_p.A437A|SCYL1_ENST00000527009.1_Silent_p.A294A			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	58	255	0	200	437					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GGCTACAGGCCAAGGATGAAC	0.577000													1	1	1	1	1	1	1.000000	61	274	0	217	1	1	66	335	0	217	5
IFFO1	25900	broad.mit.edu	37	12	6664977	6664977	+	Silent	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:6664977G>A	ENST00000336604.4	-	1	260	c.219C>T	c.(217-219)aaC>aaT	p.N73N	IFFO1_ENST00000396840.2_Silent_p.N73N|IFFO1_ENST00000356896.4_Silent_p.N73N	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	14	63	0	75	73						intermediate filament		p.N73K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GCACGTTGATGTTGGAGCCCA	0.706000													1	1	1	1	0	1	0.999923	15	72	0	86	0	0	0	0	0	86	4
ERGIC2	51290	broad.mit.edu	37	12	29494102	29494102	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:29494102T>C	ENST00000360150.4	-	14	1196	c.1121A>G	c.(1120-1122)aAt>aGt	p.N374S		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	3	12	0	20	374				N -> S (in Ref. 4; BAD96519).	vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	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)	ATGTGTATTATTTTCTAAAAG	0.318000													0	0	1	0	1	1	0.813364	3	14	0	24	1	9.989730e-01	27	91	0	24	2
OVCH1	341350	broad.mit.edu	37	12	29624754	29624754	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:29624754C>T	ENST00000318184.5	-	16	1836	c.1837G>A	c.(1837-1839)Gca>Aca	p.A613T	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	4	25	0	18	613	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CAGTGGGCTGCGGTCAGAATC	0.493000													1	1	1	1	1	1	0.969555	6	30	0	20	0	0	0	0	0	20	5
ERBB3	2065	broad.mit.edu	37	12	56482341	56482341	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr12:56482341G>T	ENST00000267101.3	+	8	1329	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.D238Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	76	191	0	227	297					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.D297Y(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTTTGTGGTGGATCAAACATC	0.512000													1	1	1	1	1	1	1.000000	81	218	0	252	0	0	0	1	0	252	5
PROSER1	80209	broad.mit.edu	37	13	39603503	39603503	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr13:39603503C>T	ENST00000352251.3	-	4	1023	c.190G>A	c.(190-192)Gct>Act	p.A64T	PROSER1_ENST00000350125.3_Missense_Mutation_p.A42T	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	21	33	0	37	64																	GGCTGGACAGCCACCATTTTC	0.318000													1	1	1	1	1	1	1.000000	22	35	0	43	0	0	0	0	0	43	5
SLC15A1	6564	broad.mit.edu	37	13	99362129	99362129	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr13:99362129C>T	ENST00000376503.5	-	12	992	c.937G>A	c.(937-939)Ggg>Agg	p.G313R		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	42	65	0	75	313					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ACGATTTTCCCGGACATAGTT	0.368000													1	1	1	1	1	1	1.000000	45	69	0	83	0	0	0	0	0	83	5
FAM161B	145483	broad.mit.edu	37	14	74407730	74407730	+	Silent	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr14:74407730G>A	ENST00000286544.3	-	5	1686	c.1488C>T	c.(1486-1488)ccC>ccT	p.P496P	FAM161B_ENST00000534936.1_Silent_p.P433P	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B	24	73	0	87											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TCCTTGGCAGGGGTGTAGCTG	0.478000													1	1	1	1	1	1	1.000000	25	77	0	93	0	6.428571e-02	1	1	0	93	5
ITPKA	3706	broad.mit.edu	37	15	41794651	41794651	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr15:41794651C>G	ENST00000260386.5	+	5	1113	c.1060C>G	c.(1060-1062)Cag>Gag	p.Q354E		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	28	43	0	91	354					signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			kidney(1)|lung(3)|skin(1)	5		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)		AAGCCGAGAGCAGGTGCTTCG	0.617000													1	1	1	1	1	1	1.000000	31	47	0	106	1	6.567843e-01	3	2	0	106	5
NOMO1	23420	broad.mit.edu	37	16	14980689	14980689	+	Silent	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr16:14980689C>T	ENST00000287667.7	+	28	3465	c.3294C>T	c.(3292-3294)ttC>ttT	p.F1098F		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	37	64	0	144	1098						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CCCTGTTCTTCCATTTCCCCC	0.473000													1	0	1	1	0	1	1.000000	40	75	0	140	1	9.999998e-01	26	28	0	140	3
C17orf97	400566	broad.mit.edu	37	17	263136	263136	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr17:263136G>A	ENST00000360127.6	+	2	518	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	81	34	0	106	168										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TCGGATCAACGAAAGTCTGCG	0.517000													1	1	1	1	1	1	1.000000	87	34	0	114	1	9.999919e-01	9	4	0	114	5
TP53	7157	broad.mit.edu	37	17	7577565	7577565	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr17:7577565T>C	ENST00000420246.2	-	7	848	c.716A>G	c.(715-717)aAc>aGc	p.N239S	TP53_ENST00000359597.4_Missense_Mutation_p.N239S|TP53_ENST00000269305.4_Missense_Mutation_p.N239S|TP53_ENST00000455263.2_Missense_Mutation_p.N239S|TP53_ENST00000413465.2_Missense_Mutation_p.N239S|TP53_ENST00000445888.2_Missense_Mutation_p.N239S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	59	4	0	67	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.N239S(28)|p.0?(8)|p.?(5)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.N239fs*25(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.N239fs*>48(1)|p.N146fs*>10(1)|p.N239_C242del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GCAGGAACTGTTACACATGTA	0.572000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	66	5	0	76	1	1	42	0	0	76	5
CRLF1	9244	broad.mit.edu	37	19	18707437	18707437	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr19:18707437C>T	ENST00000392386.3	-	6	1212	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	13	32	0	34	340					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(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CTCACCACTGCGGGGAGTGGA	0.552000													1	1	1	1	1	1	0.999951	15	37	0	37	0	5.626221e-01	1	5	0	37	5
OR5K1	26339	broad.mit.edu	37	3	98189040	98189041	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr3:98189040_98189041delAA	ENST00000332650.5	+	1	717_718	c.620_621delAA	c.(619-621)cfs	p.Q207fs		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	45	70	0	93	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTTCAGTTCAAGTCTTTACCA	0.342000													1	1	1	1	0	1	1.000000	45	115	0	95							4
IRF2	3660	broad.mit.edu	37	4	185340713	185340715	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr4:185340713_185340715delTCT	ENST00000393593.3	-	3	302_304	c.95_97delAGA	c.(94-99)att>a	p.KI32del	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	5	20	0	21	32					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			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		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)		ATCTGAAAAATCTTCTTTTCCTG	0.414000													0	0	1	1	0	1	0.969424	6	31	0	27	0	9.325873e-15	0	1	0	27	2
SLC44A1	23446	broad.mit.edu	37	9	108118561	108118569	+	In_Frame_Del	DEL	CCCTGATCA	CCCTGATCA	-	rs41306484	byFrequency	TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr9:108118561_108118569delCCCTGATCA	ENST00000374720.3	+	6	816_824	c.569_577delCCCTGATCA	c.(568-579)gcc>g	p.ALIT190del	SLC44A1_ENST00000343170.7_5'UTR|SLC44A1_ENST00000374724.1_In_Frame_Del_p.ALIT190del|SLC44A1_ENST00000374723.1_In_Frame_Del_p.ALIT190del	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	8	39	0	54	190						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTTGCAGAGGCCCTGATCACCTTTGTCAG	0.407000													1	0	1	1	0	1	0.991460	8	41	0	52	0	1.754152e-14	0	1	0	52	3
PLXNB2	23654	broad.mit.edu	37	22	50719352	50719360	+	In_Frame_Del	DEL	TGCCGGCCT	TGCCGGCCT	-			TCGA-N7-A4Y8-01A-11D-A28R-08	TCGA-N7-A4Y8-10A-01D-A28U-08			TGCCGGCCT	-	TGCCGGCCT	TGCCGGCCT		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7a243088-bff7-435b-9f10-ddede7b3113f	7ca039c3-049f-4f57-999d-68d6bd34060f	g.chr22:50719352_50719360delTGCCGGCCT	ENST00000449103.1	-	24	3946_3954	c.3806_3814delAGGCCGGCA	c.(3805-3816)gtc>g	p.EAGI1269del	PLXNB2_ENST00000359337.4_In_Frame_Del_p.EAGI1269del			O15031	PLXB2_HUMAN	plexin B2	19	9	0	93	1269					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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)		AGCACGGGGATGCCGGCCTCGTGCACGTC	0.646000													1	1	1	1	0	1	1.000000	22	29	0	93	0	1	0	59	0	93	4
USP1	7398	broad.mit.edu	37	1	62908931	62908931	+	Missense_Mutation	SNP	T	T	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:62908931T>A	ENST00000339950.4	+	5	1313	c.498T>A	c.(496-498)aaT>aaA	p.N166K	USP1_ENST00000371146.1_Missense_Mutation_p.N166K	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	30	37	0	38	166					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			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		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)		TTCTCTTAAATCCAGAGAAAT	0.368000													1	1	1	1	1	1	1.000000	31	40	0	38	0	0	0	0	0	38	5
ASPM	259266	broad.mit.edu	37	1	197071386	197071386	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:197071386C>A	ENST00000367409.4	-	18	7251	c.6995G>T	c.(6994-6996)cGa>cTa	p.R2332L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	40	44	0	84	2332	IQ 22.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTGCATCTCTCGCATCCTTTT	0.403000													1	1	1	1	1	1	1.000000	41	47	0	89	0	0	0	0	0	89	5
ADCK3	56997	broad.mit.edu	37	1	227174205	227174205	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:227174205G>A	ENST00000366779.1	+	20	4482	c.1711G>A	c.(1711-1713)Gcc>Acc	p.A571T	ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366775.1_Missense_Mutation_p.A416T|ADCK3_ENST00000366778.1_Missense_Mutation_p.A519T|ADCK3_ENST00000433743.2_Missense_Mutation_p.A245T|ADCK3_ENST00000366776.1_Missense_Mutation_p.A496T|ADCK3_ENST00000366777.3_Missense_Mutation_p.A571T|ADCK3_ENST00000458507.2_Missense_Mutation_p.A292T			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	32	41	0	87	571					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GGAGGCCTTCGCCTCTGATGA	0.592000													1	1	1	1	1	1	1.000000	32	41	0	91	1	9.999699e-01	19	10	0	91	5
ROCK2	9475	broad.mit.edu	37	2	11426743	11426743	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr2:11426743G>C	ENST00000315872.6	-	3	694	c.246C>G	c.(244-246)atC>atG	p.I82M	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	42	196	0	76	82					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTAGACCTCTGATTTTTTTCA	0.279000													1	1	1	1	1	1	1.000000	46	213	0	86	1	9.389684e-01	21	3	0	86	5
TTC27	55622	broad.mit.edu	37	2	33036105	33036105	+	Silent	SNP	A	A	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr2:33036105A>T	ENST00000317907.4	+	17	2244	c.2013A>T	c.(2011-2013)ctA>ctT	p.L671L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	34	80	0	62	671							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TTAAAATTCTAGTCAGGGCAG	0.403000													1	1	1	1	1	1	1.000000	39	91	0	66	1	9.999999e-01	25	42	0	66	5
GPR45	11250	broad.mit.edu	37	2	105859066	105859066	+	Missense_Mutation	SNP	C	C	T	rs112504064		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr2:105859066C>T	ENST00000258456.1	+	1	867	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	82	77	0	191	251						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCGCCTGCAGCGGCAGCAACA	0.652000													1	1	1	1	1	1	1.000000	85	81	0	198	0	0	0	0	0	198	5
DZIP3	9666	broad.mit.edu	37	3	108373036	108373036	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr3:108373036C>A	ENST00000361582.3	+	19	2308	c.2078C>A	c.(2077-2079)gCa>gAa	p.A693E	DZIP3_ENST00000463306.1_Missense_Mutation_p.A693E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	36	59	0	92	693					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAAGAACAAGCAAATCCACAC	0.373000													1	1	1	1	1	1	1.000000	38	60	0	96	0	0	0	0	0	96	5
PIK3CA	5290	broad.mit.edu	37	3	178916930	178916930	+	Missense_Mutation	SNP	G	G	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr3:178916930G>T	ENST00000263967.3	+	2	474	c.317G>T	c.(316-318)gGc>gTc	p.G106V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	102	38	0	58	106	PI3K-ABD.		G -> V (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.G106V(6)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.G106A(1)|p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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)			GAACCAGTAGGCAACCGTGAA	0.348000		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	114	40	0	62	0	0	0	0	0	62	5
DROSHA	29102	broad.mit.edu	37	5	31464365	31464365	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr5:31464365C>A	ENST00000511367.2	-	19	2796	c.2552G>T	c.(2551-2553)gGc>gTc	p.G851V	DROSHA_ENST00000344624.3_Missense_Mutation_p.G851V|DROSHA_ENST00000513349.1_Missense_Mutation_p.G814V|DROSHA_ENST00000442743.1_Missense_Mutation_p.G814V	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	13	27	0	35	851	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			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGAACGGATGCCAGTTTTCCA	0.428000													1	1	1	1	1	1	0.999992	17	29	0	40	1	7.111282e-01	2	4	0	40	5
NPM1	4869	broad.mit.edu	37	5	170819814	170819814	+	Silent	SNP	T	T	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr5:170819814T>A	ENST00000296930.5	+	5	754	c.453T>A	c.(451-453)gtT>gtA	p.V151V	NPM1_ENST00000351986.6_Silent_p.V151V|NPM1_ENST00000517671.1_Silent_p.V151V|NPM1_ENST00000393820.2_Silent_p.V151V	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	37	64	0	127	151	Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTAGCAAGGTTCCACAGGTAG	0.408000			T, F	ALK, RARA, MLF1	NHL, APL, AML								1	1	1	1	1	1	1.000000	41	69	0	137	0	0	0	1	0	137	5
CREBRF	153222	broad.mit.edu	37	5	172513552	172513552	+	Missense_Mutation	SNP	C	C	G			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr5:172513552C>G	ENST00000540014.1	+	3	377	c.58C>G	c.(58-60)Cac>Gac	p.H20D	CREBRF_ENST00000520420.1_Missense_Mutation_p.H20D|CREBRF_ENST00000522692.1_Missense_Mutation_p.H20D|CREBRF_ENST00000296953.2_Missense_Mutation_p.H20D			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	50	27	0	91	20							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										CTTTCGAAGCCACACCTTTTC	0.408000													1	1	1	1	1	1	1.000000	52	30	0	100	0	0	1	0	0	100	5
BTN3A3	10384	broad.mit.edu	37	6	26448652	26448652	+	Missense_Mutation	SNP	A	A	G			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr6:26448652A>G	ENST00000244519.2	+	6	1135	c.892A>G	c.(892-894)Aca>Gca	p.T298A	BTN3A3_ENST00000339789.4_Missense_Mutation_p.T256A|BTN3A3_ENST00000361232.3_Missense_Mutation_p.T256A	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	23	39	0	74	298						integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATACGCTGCAACAGAGCAAGA	0.498000													1	1	1	1	1	1	1.000000	24	44	0	75	1	5.796460e-01	3	2	0	75	5
ZKSCAN3	80317	broad.mit.edu	37	6	28333707	28333707	+	Missense_Mutation	SNP	C	C	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr6:28333707C>A	ENST00000377255.3	+	7	1559	c.1262C>A	c.(1261-1263)aCt>aAt	p.T421N	ZKSCAN3_ENST00000341464.5_Missense_Mutation_p.T273N|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.T421N	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	34	21	0	80	421					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			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGAATCCACACTGGGGAGAAG	0.502000													1	1	1	1	1	1	1.000000	34	23	0	85	1	8.986278e-01	3	2	0	85	5
SNRPC	6631	broad.mit.edu	37	6	34725706	34725706	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr6:34725706G>A	ENST00000374017.3	+	1	376	c.89G>A	c.(88-90)tGc>tAc	p.C30Y	SNRPC_ENST00000374018.1_Intron|SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000244520.5_Missense_Mutation_p.C9Y			P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	20	40	0	87	9					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						TGTGACTACTGCGATACATAC	0.368000													1	1	1	1	1	1	1.000000	22	46	0	99	1	1	99	241	0	99	5
CREB5	9586	broad.mit.edu	37	7	28610154	28610154	+	Splice_Site	SNP	G	G	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr7:28610154G>C	ENST00000357727.2	+	5	853	c.464_splice	c.e5+1	p.G155_splice	CREB5_ENST00000409603.1_Splice_Site_p.G122_splice|CREB5_ENST00000396300.2_Splice_Site_p.G148_splice|CREB5_ENST00000396299.2_Splice_Site_p.G122_splice	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	40	22	0	65	155					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			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CCGCCAGATCGGGTAAGGAGC	0.572000													1	1	1	1	1	1	1.000000	42	24	0	69	0	0	0	0	0	69	5
TBXAS1	6916	broad.mit.edu	37	7	139715631	139715631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr7:139715631G>A	ENST00000263552.6	+	15	1876	c.1338G>A	c.(1336-1338)tgG>tgA	p.W446*	TBXAS1_ENST00000458722.1_Nonsense_Mutation_p.W491*|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000416849.2_Nonsense_Mutation_p.W492*|TBXAS1_ENST00000448866.1_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000411653.1_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000336425.5_Nonsense_Mutation_p.W445*|TBXAS1_ENST00000414508.2_Nonsense_Mutation_p.W446*|TBXAS1_ENST00000425687.1_Nonsense_Mutation_p.W378*|TBXAS1_ENST00000436047.2_Nonsense_Mutation_p.W446*	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	19	43	0	78	445					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			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CTGAGCACTGGCCAAGCCCGG	0.597000													1	1	1	1	1	1	0.999997	19	48	0	82	0	9.974273e-01	0	29	0	82	5
MGAM	8972	broad.mit.edu	37	7	141756660	141756660	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr7:141756660C>T	ENST00000475668.2	+	30	3665	c.3611C>T	c.(3610-3612)aCa>aTa	p.T1204I	MGAM_ENST00000549489.2_Missense_Mutation_p.T1204I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	9	28	0	38	1204	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTGCCTTGACATACCGCACC	0.517000													1	1	1	1	1	1	0.999034	11	34	0	42	0	0	0	0	0	42	5
KCNH2	3757	broad.mit.edu	37	7	150648140	150648140	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr7:150648140G>A	ENST00000392968.2	-	6	2846	c.1726C>T	c.(1726-1728)Cgc>Tgc	p.R576C	KCNH2_ENST00000430723.3_Missense_Mutation_p.R672C|KCNH2_ENST00000330883.4_Missense_Mutation_p.R332C|KCNH2_ENST00000262186.5_Missense_Mutation_p.R672C			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	18	35	0	102	672					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			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	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)	GTGTGGTAGCGGGCTGTGCCC	0.652000													1	1	1	1	1	1	0.999996	18	37	0	107	0	0	0	0	0	107	5
HTRA4	203100	broad.mit.edu	37	8	38834215	38834215	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr8:38834215T>C	ENST00000302495.4	+	3	828	c.728T>C	c.(727-729)aTt>aCt	p.I243T		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	21	25	0	55	243	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GTCAAGGATATTGACCTTAAA	0.433000													1	1	1	1	1	1	1.000000	22	26	0	62	0	0	0	0	0	62	5
FER1L6	654463	broad.mit.edu	37	8	125082754	125082754	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr8:125082754G>A	ENST00000522917.1	+	30	4087	c.3881G>A	c.(3880-3882)tGg>tAg	p.W1294*	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Nonsense_Mutation_p.W1294*	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	16	88	0	84	1294						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTGAAGACTGGGTGAAAACT	0.418000													1	1	1	1	1	1	0.999979	17	92	0	92	0	0	0	0	0	92	5
UNC13B	10497	broad.mit.edu	37	9	35381192	35381192	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr9:35381192C>T	ENST00000378495.3	+	18	2446	c.2224C>T	c.(2224-2226)Cag>Tag	p.Q742*	UNC13B_ENST00000396787.1_Nonsense_Mutation_p.Q754*|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.Q742*	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	18	31	0	38	742					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ATACCACGTGCAGTATACATG	0.537000													1	1	1	1	1	1	0.999999	20	32	0	39	0	0	0	0	0	39	5
OR13C8	138802	broad.mit.edu	37	9	107331463	107331463	+	Silent	SNP	C	C	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr9:107331463C>T	ENST00000335040.1	+	1	15	c.15C>T	c.(13-15)aaC>aaT	p.N5N		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	50	5	0	75	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AAAGGACCAACGATTCCACGT	0.408000													1	1	1	1	1	1	1.000000	51	5	0	77	0	0	0	0	0	77	5
SORCS3	22986	broad.mit.edu	37	10	107015549	107015549	+	Silent	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr10:107015549G>A	ENST00000369701.3	+	24	3554	c.3327G>A	c.(3325-3327)caG>caA	p.Q1109Q		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	27	34	0	49	1109						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		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)		ATGTCACACAGCTGACGTTAG	0.443000													1	1	1	1	1	1	1.000000	30	38	0	55	0	0	1	0	0	55	5
PHRF1	57661	broad.mit.edu	37	11	587405	587405	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr11:587405G>C	ENST00000264555.5	+	4	489	c.361G>C	c.(361-363)Ggg>Cgg	p.G121R	PHRF1_ENST00000413872.2_Missense_Mutation_p.G120R|PHRF1_ENST00000533464.1_Missense_Mutation_p.G117R|PHRF1_ENST00000416188.2_Missense_Mutation_p.G121R	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	16	54	0	111	121							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCAGGCCGTGGGGACGCCGGA	0.552000													1	1	1	1	1	1	0.999966	16	61	0	116	0	0	1	0	0	116	5
SLC15A3	51296	broad.mit.edu	37	11	60707095	60707095	+	Missense_Mutation	SNP	T	T	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr11:60707095T>A	ENST00000227880.3	-	6	1525	c.1292A>T	c.(1291-1293)gAg>gTg	p.E431V		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	14	30	0	41	431					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GTGTAAGCGCTCCATCTCCAG	0.592000													1	1	1	1	1	1	0.999998	19	38	0	44	1	1	81	178	0	44	5
OTOGL	283310	broad.mit.edu	37	12	80660253	80660253	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr12:80660253G>A	ENST00000458043.2	+	20	2226	c.2220G>A	c.(2218-2220)atG>atA	p.M740I	OTOGL_ENST00000547103.1_Missense_Mutation_p.M740I	NM_173591.3	NP_775862.3			otogelin-like	4	22	0	19											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGAAGGGCATGCTGTACCATC	0.483000													1	0	1	0	1	1	0.970165	6	26	0	19	0	0	0	0	0	19	3
RNF113B	140432	broad.mit.edu	37	13	98829047	98829047	+	Silent	SNP	C	C	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr13:98829047C>T	ENST00000267291.6	-	1	472	c.444G>A	c.(442-444)cgG>cgA	p.R148R	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	11	51	0	79	148							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGTGGATTCCCCGGTAGATGT	0.647000													1	1	1	1	1	1	0.998786	11	60	0	83	0	0	0	0	0	83	5
LIG4	3981	broad.mit.edu	37	13	108861426	108861426	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr13:108861426T>C	ENST00000356922.4	-	2	2463	c.2191A>G	c.(2191-2193)Aag>Gag	p.K731E	LIG4_ENST00000405925.1_Missense_Mutation_p.K731E|LIG4_ENST00000442234.1_Missense_Mutation_p.K731E	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	26	45	0	66	731	BRCT 1.				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			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CTTTTGGTCTTAAAACATTCT	0.383000								Non-homologous end-joining					1	1	1	1	1	1	1.000000	30	48	0	71	0	0	0	0	0	71	5
MYH7	4625	broad.mit.edu	37	14	23886383	23886383	+	Missense_Mutation	SNP	G	G	A	rs45544633		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr14:23886383G>A	ENST00000355349.3	-	32	4660	c.4498C>T	c.(4498-4500)Cgg>Tgg	p.R1500W		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	90	8	0	196	1500			R -> P (in MPD1).		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	p.R1500W(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTGTTCTCCCGCTTGAAGGTC	0.597000													1	1	1	1	1	1	1.000000	103	8	0	218	0	0	0	0	0	218	5
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874		TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr17:7578479G>A	ENST00000420246.2	-	5	583	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	25	4	0	75	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		CCGGGCGGGGGTGTGGAATCA	0.612000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	28	4	0	82	1	9.999995e-01	13	0	0	82	5
TNRC6C	57690	broad.mit.edu	37	17	76045946	76045946	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr17:76045946G>A	ENST00000335749.4	+	3	1372	c.803G>A	c.(802-804)gGg>gAg	p.G268E	TNRC6C_ENST00000541771.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000544502.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000588847.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000588061.1_Missense_Mutation_p.G268E|TNRC6C_ENST00000301624.4_Missense_Mutation_p.G268E	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	30	115	0	66	268	Gly-rich.|Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTCAGTCAGGGGAATGGAGAC	0.493000													1	1	1	1	1	1	1.000000	30	116	0	68	0	0	0	1	0	68	5
FHOD3	80206	broad.mit.edu	37	18	34297864	34297864	+	Missense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr18:34297864G>A	ENST00000257209.4	+	16	2200	c.2078G>A	c.(2077-2079)cGg>cAg	p.R693Q	FHOD3_ENST00000587493.1_3'UTR|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000359247.4_Missense_Mutation_p.R676Q|FHOD3_ENST00000590592.1_Missense_Mutation_p.R868Q|FHOD3_ENST00000445677.1_Missense_Mutation_p.R655Q	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	49	59	1	103	676					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACCAACAAACGGTTCATGCTT	0.542000													1	0	1	1	1	1	1.000000	51	66	1	114	0	0	0	0	1	114	4
ZNF358	140467	broad.mit.edu	37	19	7585559	7585559	+	Silent	SNP	A	A	G			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:7585559A>G	ENST00000597229.1	+	2	1601	c.1431A>G	c.(1429-1431)aaA>aaG	p.K477K	ZNF358_ENST00000394341.2_Silent_p.K477K	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	12	27	0	25	477					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						ccagctccaaacccctccccg	0.682000													0	0	1	0	0	1	0.999575	12	30	0	25	1	1	490	987	0	25	1
ZNF799	90576	broad.mit.edu	37	19	12501523	12501523	+	Silent	SNP	T	T	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:12501523T>C	ENST00000419318.1	-	4	2342	c.1593A>G	c.(1591-1593)caA>caG	p.Q531Q	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.Q563Q			Q96GE5	ZN799_HUMAN	zinc finger protein 799	17	116	0	60	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TACCACATTGTTGACACTCAT	0.413000													1	1	1	1	1	1	0.999976	17	123	0	63	1	4.551443e-01	2	10	0	63	5
GADD45GIP1	90480	broad.mit.edu	37	19	13065279	13065279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:13065279G>A	ENST00000316939.1	-	2	435	c.412C>T	c.(412-414)Cag>Tag	p.Q138*		NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	5	143	0	67	138	Poly-Gln.				cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						TCCCGCTGCTGCTGCTGCCAG	0.632000													0	1	0	0	0	1	0.997162	10	154	0	74	1	1	5	1932	0	74	1
KIAA1683	80726	broad.mit.edu	37	19	18376865	18376865	+	Silent	SNP	G	G	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:18376865G>C	ENST00000392413.3	-	3	1700	c.1485C>G	c.(1483-1485)acC>acG	p.T495T	KIAA1683_ENST00000600328.2_Silent_p.T495T|KIAA1683_ENST00000600359.2_Silent_p.T449T	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	100	56	0	126	495						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTGGCAGGCGGGTCTGGGGTG	0.572000													1	1	1	1	1	1	1.000000	109	63	0	138	0	0	0	0	0	138	5
LRP3	4037	broad.mit.edu	37	19	33687683	33687683	+	Splice_Site	SNP	G	G	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:33687683G>C	ENST00000253193.7	+	2	323	c.121_splice	c.e2+1	p.A41_splice	LRP3_ENST00000592484.1_3'UTR	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	35	55	0	94	41					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TCCTGCCTTAGGTAAGTAAGC	0.552000													1	1	1	1	1	1	1.000000	40	63	0	107	1	5.068869e-01	3	1	0	107	5
THAP8	199745	broad.mit.edu	37	19	36526381	36526381	+	Silent	SNP	G	G	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:36526381G>T	ENST00000292894.1	-	4	1330	c.786C>A	c.(784-786)gcC>gcA	p.A262A	AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000538849.1_Silent_p.A117A	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	16	69	0	88	262							DNA binding|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCTCCGGCTTGGCATCCACTG	0.537000													1	1	1	1	1	1	0.999981	17	77	0	95	1	9.975672e-01	10	39	0	95	5
PAK4	0	broad.mit.edu	37	19	39660328	39660328	+	Missense_Mutation	SNP	G	G	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:39660328G>C	ENST00000599386.1	+	3	316	c.135G>C	c.(133-135)gaG>gaC	p.E45D	PAK4_ENST00000599470.1_Missense_Mutation_p.E45D|PAK4_ENST00000321944.4_Missense_Mutation_p.E45D|PAK4_ENST00000435673.2_Missense_Mutation_p.E45D|PAK4_ENST00000360442.3_Missense_Mutation_p.E45D|PAK4_ENST00000358301.3_Missense_Mutation_p.E45D|PAK4_ENST00000593690.1_Missense_Mutation_p.E45D	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	28	9	0	54	45	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	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)			TGATCGAGGAGTCGGCTCGCC	0.706000													1	1	1	1	0	1	1.000000	40	21	0	56	1	9.999982e-01	12	7	0	56	4
ZNF284	342909	broad.mit.edu	37	19	44591382	44591382	+	Missense_Mutation	SNP	T	T	G			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:44591382T>G	ENST00000421176.3	+	5	1967	c.1751T>G	c.(1750-1752)aTg>aGg	p.M584R	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	17	18	0	22	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AATCTAGATATGATTTTATCA	0.338000													1	1	1	1	1	1	0.999996	17	18	0	22	0	0	0	0	0	22	5
LILRB5	0	broad.mit.edu	37	19	54760423	54760423	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:54760423C>T	ENST00000450632.1	-	3	361	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LILRB5_ENST00000449561.2_Missense_Mutation_p.R95Q|LILRB5_ENST00000345866.6_Missense_Mutation_p.R95Q|LILRB5_ENST00000316219.5_Missense_Mutation_p.R95Q			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	111	135	0	245	95	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	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)		GCAGCGGTATCGCCCTGCACT	0.627000													1	1	1	1	1	1	1.000000	120	142	0	273	0	0	0	0	0	273	5
DNMT3B	1789	broad.mit.edu	37	20	31381340	31381340	+	Splice_Site	SNP	A	A	G			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr20:31381340A>G	ENST00000328111.2	+	10	1387		c.e10-1		DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000201963.3_Intron|DNMT3B_ENST00000353855.2_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000344505.4_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	14	21	0	43						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			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						tcccctcaaaagtggttaata	0.388000													1	1	1	1	1	1	0.999968	15	24	0	46	0	0	0	1	0	46	5
RS1	6247	broad.mit.edu	37	X	18660259	18660259	+	Silent	SNP	C	C	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrX:18660259C>T	ENST00000379984.3	-	6	580	c.540G>A	c.(538-540)tcG>tcA	p.S180S	CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	48	40	0	104	180	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AGGTGCGGTCCGAGTTGCCAT	0.587000													1	1	1	1	1	1	1.000000	52	47	0	117	0	0	0	0	0	117	5
UBA1	7317	broad.mit.edu	37	X	47060923	47060923	+	Missense_Mutation	SNP	T	T	C			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrX:47060923T>C	ENST00000335972.6	+	8	908	c.725T>C	c.(724-726)tTt>tCt	p.F242S	UBA1_ENST00000377351.4_Missense_Mutation_p.F242S	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	11	31	0	43	242	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CGACACGGGTTTGAGAGCGGG	0.547000													1	1	1	1	1	1	0.999078	11	31	0	47	1	9.809590e-01	15	8	0	47	5
PGAM4	441531	broad.mit.edu	37	X	77224931	77224931	+	Missense_Mutation	SNP	T	T	A			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrX:77224931T>A	ENST00000458128.1	-	1	204	c.205A>T	c.(205-207)Aca>Tca	p.T69S	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	90	112	0	223	69					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						TCTAGCACTGTCCAGAGGGTC	0.577000													1	1	1	1	1	1	1.000000	99	117	0	183	0	0	0	0	0	183	5
GPRASP1	9737	broad.mit.edu	37	X	101912152	101912152	+	Missense_Mutation	SNP	C	C	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrX:101912152C>T	ENST00000537097.1	+	6	4124	c.3311C>T	c.(3310-3312)cCt>cTt	p.P1104L	GPRASP1_ENST00000444152.1_Missense_Mutation_p.P1104L|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.P1104L|GPRASP1_ENST00000361600.5_Missense_Mutation_p.P1104L	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	101	93	0	177	1104	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTGCTTCAGCCTGATCAGCCT	0.488000													1	1	1	1	1	1	1.000000	104	100	0	186	0	0	0	0	0	186	5
PNMA5	114824	broad.mit.edu	37	X	152159976	152159976	+	Missense_Mutation	SNP	A	A	T			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chrX:152159976A>T	ENST00000439251.1	-	2	605	c.167T>A	c.(166-168)tTc>tAc	p.F56Y	PNMA5_ENST00000361887.5_Missense_Mutation_p.F56Y|PNMA5_ENST00000535214.1_Missense_Mutation_p.F56Y|PNMA5_ENST00000452693.1_Missense_Mutation_p.F56Y	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	56	99	0	165	56					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ttccctcctgaacattctccc	0.522000													1	1	1	1	1	1	1.000000	58	104	0	170	0	0	0	0	0	170	5
USP1	7398	broad.mit.edu	37	1	62910418	62910418	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr1:62910418delC	ENST00000339950.4	+	6	1382	c.567delC	c.(565-567)aafs	p.N189fs	USP1_ENST00000371146.1_Frame_Shift_Del_p.N189fs	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	25	38	0	36	189					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			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		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)		GGGAACTCAACCCTATGTATG	0.303000													1	1	1	1	0	1	1.000000	25	63	0	36							4
C10orf137	26098	broad.mit.edu	37	10	127414264	127414266	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr10:127414264_127414266delGGA	ENST00000337623.3	+	6	754_756	c.649_651delGGA	c.(649-651)del	p.G217del	C10orf137_ENST00000356792.4_In_Frame_Del_p.G217del	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	19	30	0	44	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAATGGTGATGGAGCCGCTCAGC	0.448000													1	1	1	1	0	1	0.999997	19	49	0	45							4
USP10	9100	broad.mit.edu	37	16	84778803	84778803	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr16:84778803delC	ENST00000219473.7	+	4	829	c.716delC	c.(715-717)gafs	p.A239fs	USP10_ENST00000570191.1_Frame_Shift_Del_p.A243fs|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	18	1	0	34	239					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			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						ACCAGGACTGCAGGGCAGCCA	0.627000													1	1	1	1	0	1	0.999998	18	20	0	36	0	2.317073e-01	1	1	0	36	4
SAFB2	9667	broad.mit.edu	37	19	5594052	5594066	+	In_Frame_Del	DEL	CGCTCCCGCTCCATG	CGCTCCCGCTCCATG	-			TCGA-N7-A59B-01A-11D-A28R-08	TCGA-N7-A59B-10A-01D-A28U-08			CGCTCCCGCTCCATG	-	CGCTCCCGCTCCATG	CGCTCCCGCTCCATG		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c136f0c7-c211-4ac9-a755-1ac6b32b1196	8cc077f9-7398-4135-b4c3-dc18247f0879	g.chr19:5594052_5594066delCGCTCCCGCTCCATG	ENST00000252542.4	-	15	2307_2321	c.2043_2057delCATGGAGCGGGAGCG	c.(2041-2058)cgg>cg	p.RMERER681del		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	12	8	0	20	681	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GCGCTCCAGCCGCTCCCGCTCCATGCGCTCCCGCT	0.716000													1	1	1	0	0	1	0.999930	14	23	0	20	0	9.999542e-01	0	39	0	20	3
CLCNKA	0	broad.mit.edu	37	1	16357051	16357051	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:16357051C>G	ENST00000375692.1	+	16	1632	c.1504C>G	c.(1504-1506)Ctg>Gtg	p.L502V	CLCNKA_ENST00000439316.2_Missense_Mutation_p.L459V|CLCNKA_ENST00000420078.1_Missense_Mutation_p.L502V|CLCNKA_ENST00000331433.4_Missense_Mutation_p.L502V|CLCNKA_ENST00000464764.1_3'UTR			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	14	78	0	82	502					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		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)	ACTGCCCGTGCTGATGGCGGT	0.617000													1	1	1	1	1	1	0.999958	16	87	0	80	0	0	0	1	0	80	5
PCSK9	255738	broad.mit.edu	37	1	55512217	55512217	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:55512217G>A	ENST00000302118.5	+	3	711	c.421G>A	c.(421-423)Gac>Aac	p.D141N	PCSK9_ENST00000452118.2_Missense_Mutation_p.D141N|PCSK9_ENST00000543384.1_Intron	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	33	48	0	71	141					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			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCCCCATGTCGACTACATCGA	0.602000													1	1	1	1	1	1	1.000000	34	50	0	76	0	0	0	0	0	76	5
SYDE2	84144	broad.mit.edu	37	1	85656053	85656053	+	Silent	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:85656053A>G	ENST00000341460.5	-	2	1177	c.1128T>C	c.(1126-1128)ccT>ccC	p.P376P		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	8	16	0	33	376					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CATCATCCTCAGGAATGGGAT	0.418000													1	1	1	1	1	1	0.993471	8	17	0	34	1	1.190476e-01	2	0	0	34	5
PTGFRN	5738	broad.mit.edu	37	1	117491980	117491980	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:117491980G>A	ENST00000393203.2	+	4	1146	c.999G>A	c.(997-999)cgG>cgA	p.R333R		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	42	54	0	91	333	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	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)		TGTTGGCGCGGCTTGACCGTG	0.577000													1	1	1	1	1	1	1.000000	45	58	0	95	1	9.999993e-01	21	15	0	95	5
CD1B	910	broad.mit.edu	37	1	158298715	158298715	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr1:158298715G>A	ENST00000368168.3	-	5	1083	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	13	40	0	48	326					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACTCACCGGCGCCTCATATAC	0.378000													1	1	1	1	1	1	0.999881	14	43	0	53	0	0	0	0	0	53	5
C2orf16	84226	broad.mit.edu	37	2	27801239	27801239	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:27801239C>T	ENST00000408964.2	+	1	1851	c.1800C>T	c.(1798-1800)atC>atT	p.I600I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	12	17	0	28	600										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCCTTCAAATCGTAAAATCTG	0.393000													1	1	1	1	1	1	0.999713	12	18	0	30	0	1.723485e-01	0	2	0	30	5
SMEK2	57223	broad.mit.edu	37	2	55792098	55792098	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:55792098A>T	ENST00000272313.5	-	12	2087	c.1760T>A	c.(1759-1761)tTc>tAc	p.F587Y	SMEK2_ENST00000407823.3_Missense_Mutation_p.F640Y|SMEK2_ENST00000345102.5_Missense_Mutation_p.F672Y	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	6	15	0	25	672						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAATCCTTTGAATGTCTGAAC	0.313000													1	0	1	1	1	1	0.972704	6	16	0	27	1	9.998613e-01	45	27	0	27	4
LIPT1	51601	broad.mit.edu	37	2	99778887	99778887	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr2:99778887T>C	ENST00000393477.3	+	4	819	c.467T>C	c.(466-468)cTt>cCt	p.L156P	MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Missense_Mutation_p.L156P|LIPT1_ENST00000393473.2_Missense_Mutation_p.L156P|LIPT1_ENST00000393474.3_Missense_Mutation_p.L156P|LIPT1_ENST00000340066.1_Missense_Mutation_p.L156P	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	10	58	0	79	156					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	GACCTTTTACTTGATGGACAG	0.413000													1	1	1	1	1	1	0.997579	10	61	0	80	1	8.447161e-01	6	17	0	80	5
ARPP21	10777	broad.mit.edu	37	3	35778809	35778809	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:35778809G>A	ENST00000187397.4	+	16	2055	c.1599G>A	c.(1597-1599)caG>caA	p.Q533Q	ARPP21_ENST00000458225.1_Silent_p.Q499Q|ARPP21_ENST00000444190.1_Silent_p.Q479Q|ARPP21_ENST00000417925.1_Silent_p.Q499Q|ARPP21_ENST00000337271.5_Silent_p.Q479Q	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	21	30	0	48	533	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCCAACAGCAGGTCCAGCCAC	0.647000													1	1	1	1	1	1	1.000000	27	36	0	49	0	0	0	0	0	49	5
MYRIP	25924	broad.mit.edu	37	3	40286039	40286039	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:40286039G>A	ENST00000302541.6	+	13	2545	c.2203G>A	c.(2203-2205)Gcg>Acg	p.A735T	MYRIP_ENST00000444716.1_Missense_Mutation_p.A735T|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Missense_Mutation_p.A670T|MYRIP_ENST00000539167.1_Missense_Mutation_p.A548T|MYRIP_ENST00000396217.3_Missense_Mutation_p.A646T	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	23	24	0	49	735	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GACCCATCTGGCGGATCTGGA	0.607000													1	1	1	1	1	1	1.000000	24	28	0	56	1	8.384662e-01	3	3	0	56	5
PTPN23	25930	broad.mit.edu	37	3	47452431	47452431	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:47452431C>G	ENST00000265562.4	+	20	3220	c.3143C>G	c.(3142-3144)cCa>cGa	p.P1048R	PTPN23_ENST00000431726.1_Missense_Mutation_p.P922R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	24	28	0	45	1048	His.|Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCATCCCCCACTGGCATAT	0.672000													1	1	1	1	0	1	1.000000	24	29	0	50	1	1	24	31	0	50	4
POLQ	10721	broad.mit.edu	37	3	121260219	121260219	+	Nonsense_Mutation	SNP	T	T	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:121260219T>A	ENST00000264233.5	-	3	579	c.451A>T	c.(451-453)Aaa>Taa	p.K151*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	47	54	0	170	151	Helicase ATP-binding.				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			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCTTCTCTTTAGCCACAGAA	0.358000								DNA polymerases (catalytic subunits)					1	1	1	1	1	1	1.000000	49	58	0	176	0	0	0	0	0	176	5
ILDR1	286676	broad.mit.edu	37	3	121724124	121724124	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:121724124C>T	ENST00000273691.3	-	3	451	c.346G>A	c.(346-348)Gat>Aat	p.D116N	ILDR1_ENST00000462014.1_Missense_Mutation_p.D128N|ILDR1_ENST00000344209.5_Missense_Mutation_p.D116N|ILDR1_ENST00000393631.1_Missense_Mutation_p.D116N|ILDR1_ENST00000460554.1_5'UTR	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	13	26	0	32	116	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGCCGGTAATCTACCCCCAGC	0.652000													1	1	1	1	1	1	0.999825	13	26	0	34	0	1.219512e-01	0	2	0	34	5
STAG1	10274	broad.mit.edu	37	3	136323151	136323151	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr3:136323151C>T	ENST00000383202.2	-	4	553	c.297_splice	c.e4+1	p.Q99_splice	STAG1_ENST00000434713.2_5'UTR|STAG1_ENST00000236698.5_Splice_Site_p.Q99_splice|STAG1_ENST00000480733.1_Splice_Site_p.Q99_splice	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	43	48	1	99	99					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TAAAATTTACCTGCATTGCAC	0.403000													1	0	1	1	1	1	1.000000	45	56	1	113	1	9.879786e-01	2	10	1	113	4
SLAIN2	57606	broad.mit.edu	37	4	48385799	48385799	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:48385799C>A	ENST00000264313.6	+	6	1776	c.1358C>A	c.(1357-1359)gCc>gAc	p.A453D	SLAIN2_ENST00000512093.1_Missense_Mutation_p.A260D	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	6	12	0	16	453						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CAGGCTTCAGCCAGTAAGTAT	0.353000													1	0	1	1	1	1	0.973531	6	14	0	18	1	9.969917e-01	14	21	0	18	4
EPHA5	2044	broad.mit.edu	37	4	66356251	66356251	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:66356251G>A	ENST00000273854.3	-	5	1846	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	EPHA5_ENST00000511294.1_Missense_Mutation_p.P416S|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.P416S	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	10	42	0	34	416	Fibronectin type-III 1.				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			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTTGCCGGGGAAGGTACCTG	0.498000										TSP Lung(17;0.13)			1	1	1	1	1	1	0.998895	11	46	0	40	0	0	0	0	0	40	5
USP53	54532	broad.mit.edu	37	4	120213506	120213506	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:120213506G>A	ENST00000450251.1	+	15	2906	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	USP53_ENST00000274030.6_Missense_Mutation_p.E788K			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	11	12	0	25	788					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACATGTACATGAAGACAATGG	0.328000													1	1	1	1	1	1	0.999759	12	15	0	26	1	9.382527e-01	8	1	0	26	5
FBXW7	0	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	55	71	0	127	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	60	75	0	136	1	9.542301e-01	3	6	0	136	5
DNAH5	1767	broad.mit.edu	37	5	13865875	13865875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:13865875G>T	ENST00000265104.4	-	27	4361	c.4257C>A	c.(4255-4257)taC>taA	p.Y1419*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	21	19	0	37	1419	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGACACTGTTGTACAGAGTAT	0.353000									Kartagener syndrome				1	1	1	1	1	1	1.000000	22	22	0	39	0	0	0	0	0	39	5
F12	2161	broad.mit.edu	37	5	176832137	176832137	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:176832137T>C	ENST00000253496.3	-	6	495	c.447A>G	c.(445-447)atA>atG	p.I149M		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	18	35	0	44	149	Fibronectin type-I.				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			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	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)			TTCTATACCATATCTCATTCT	0.552000									Hereditary Angioedema				1	1	1	1	1	1	0.999999	20	37	0	45	0	0	0	0	0	45	5
FAM153A	285596	broad.mit.edu	37	5	177156485	177156485	+	Splice_Site	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:177156485C>G	ENST00000440605.3	-	16	986		c.e16+1		FAM153A_ENST00000510276.1_Splice_Site|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	28	124	0	225											kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			GACGACTTTACCATGTGAACC	0.443000													1	0	1	1	0	1	1.000000	30	144	0	167	0	0	0	0	0	167	3
HIST1H2AB	8335	broad.mit.edu	37	6	26033580	26033580	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr6:26033580C>T	ENST00000259791.2	-	1	216	c.217G>A	c.(217-219)Gac>Aac	p.D73N		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	54	54	0	109	73					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TTCTTGTTGTCGCGGGCCGCA	0.647000													1	1	1	1	1	1	1.000000	58	61	0	114	0	0	0	0	0	114	5
CNOT4	4850	broad.mit.edu	37	7	135080618	135080618	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr7:135080618C>T	ENST00000428680.2	-	9	1167	c.888G>A	c.(886-888)acG>acA	p.T296T	CNOT4_ENST00000414802.1_Silent_p.T299T|CNOT4_ENST00000356162.4_Silent_p.T299T|CNOT4_ENST00000541284.1_Silent_p.T299T|CNOT4_ENST00000451834.1_Silent_p.T296T|CNOT4_ENST00000315544.5_Silent_p.T299T|CNOT4_ENST00000423368.2_Silent_p.T299T|CNOT4_ENST00000361528.4_Silent_p.T296T	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	12	33	0	42	299					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			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTGGTGAAGGCGTATCACTGT	0.368000													1	1	1	1	1	1	0.999772	13	37	0	44	1	9.912792e-01	6	21	0	44	5
GIMAP4	55303	broad.mit.edu	37	7	150269308	150269308	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr7:150269308C>T	ENST00000255945.2	+	3	325	c.150C>T	c.(148-150)atC>atT	p.I50I	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.I64I	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	19	29	0	50	50							GTP binding	p.I50>?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAAACAGCATCCTTGGCCGGA	0.478000													1	1	1	1	1	1	0.999999	19	29	0	51	0	9.997921e-01	0	28	0	51	5
ARHGEF10	9639	broad.mit.edu	37	8	1871979	1871979	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr8:1871979G>A	ENST00000518288.1	+	22	2662	c.2499G>A	c.(2497-2499)acG>acA	p.T833T	ARHGEF10_ENST00000398564.1_Silent_p.T834T|ARHGEF10_ENST00000349830.3_Silent_p.T809T|ARHGEF10_ENST00000262112.6_Silent_p.T834T|ARHGEF10_ENST00000520359.1_Silent_p.T771T			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	15	62	0	65	834					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			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		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)		TGTTCAATACGTTCACCCCTG	0.517000													1	1	1	1	1	1	0.999924	15	70	0	71	1	5.055614e-01	3	6	0	71	5
CYP7B1	9420	broad.mit.edu	37	8	65527731	65527731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr8:65527731C>T	ENST00000310193.3	-	4	1082	c.909G>A	c.(907-909)tgG>tgA	p.W303*	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	4	41	0	32	303					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			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATACATTGCCCAGAACATAG	0.443000													1	0	1	1	1	1	0.940845	5	46	0	33	0	3.975605e-02	1	2	0	33	4
CDK20	23552	broad.mit.edu	37	9	90584735	90584735	+	Silent	SNP	G	G	A	rs113461285		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:90584735G>A	ENST00000375883.3	-	5	906	c.600C>T	c.(598-600)ggC>ggT	p.G200G	CDK20_ENST00000336654.5_Silent_p.G213G|CDK20_ENST00000605159.1_Silent_p.G200G|CDK20_ENST00000375871.4_Intron|CDK20_ENST00000325303.8_Silent_p.G221G	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	43	50	0	84	221	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						GGTTTGGGGTGCCCAAGATGC	0.577000													1	0	1	1	1	1	1.000000	45	51	0	86	1	9.999991e-01	15	15	0	86	4
RABL6	55684	broad.mit.edu	37	9	139726296	139726296	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr9:139726296C>A	ENST00000371675.3	+	6	1122	c.237C>A	c.(235-237)ttC>ttA	p.F79L	RABL6_ENST00000371663.4_Missense_Mutation_p.F194L|RABL6_ENST00000371671.4_Missense_Mutation_p.F194L|RABL6_ENST00000432842.2_Missense_Mutation_p.F156L|RABL6_ENST00000466096.1_3'UTR|RABL6_ENST00000357466.2_Missense_Mutation_p.F194L|RABL6_ENST00000311502.7_Missense_Mutation_p.F194L					RAB, member RAS oncogene family-like 6	12	16	0	27																		TGCGTGACTTCATCGACAACC	0.672000													1	1	1	1	0	1	0.999950	14	17	0	28	1	1	67	75	0	28	4
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292		TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	39	10	0	87	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		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.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		TGGAAAGGGACGAACTGGTGT	0.403000	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	1	1	1	1	1	1.000000	44	12	0	94	1	1	9	20	0	94	5
DGKZ	8525	broad.mit.edu	37	11	46397946	46397946	+	Splice_Site	SNP	C	C	T	rs146211585	byFrequency	TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:46397946C>T	ENST00000454345.1	+	24	2849	c.2725_splice	c.e24+1	p.D908_splice	DGKZ_ENST00000343674.6_Splice_Site_p.D736_splice|DGKZ_ENST00000527911.1_Splice_Site_p.D720_splice|DGKZ_ENST00000421244.2_Splice_Site_p.D720_splice|DGKZ_ENST00000543978.1_Splice_Site_p.D72_splice|DGKZ_ENST00000395574.3_Splice_Site_p.D686_splice|DGKZ_ENST00000528615.1_Splice_Site_p.D498_splice|DGKZ_ENST00000318201.8_Splice_Site_p.D697_splice|DGKZ_ENST00000532868.2_Splice_Site_p.D724_splice|DGKZ_ENST00000456247.2_Splice_Site_p.D719_splice	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	38	103	0	155	908					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|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCTTCCTGGACGGTGAGTCTA	0.612000													1	1	1	1	1	1	1.000000	39	110	0	163	1	9.999975e-01	12	50	0	163	5
OR4C3	256144	broad.mit.edu	37	11	48347283	48347283	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:48347283C>G	ENST00000319856.4	+	1	812	c.791C>G	c.(790-792)aCc>aGc	p.T264S		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	46	39	0	89	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GCCCTCTCCACCTGTGGAGCC	0.458000													1	1	1	1	0	1	1.000000	47	44	0	92	0	0	0	0	0	92	4
FAM111A	63901	broad.mit.edu	37	11	58920290	58920290	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:58920290T>G	ENST00000528737.1	+	5	3967	c.1149T>G	c.(1147-1149)tgT>tgG	p.C383W	FAM111A_ENST00000361723.3_Missense_Mutation_p.C383W|FAM111A_ENST00000531147.1_Missense_Mutation_p.C383W|FAM111A_ENST00000533703.1_Missense_Mutation_p.C383W|FAM111A_ENST00000420244.1_Missense_Mutation_p.C383W			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	14	86	0	107	383					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTTTAACTTGTCGGCATGTAA	0.428000													1	1	1	1	1	1	0.999912	15	94	0	109	1	6.050985e-01	5	8	0	109	5
AHNAK	79026	broad.mit.edu	37	11	62292206	62292206	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:62292206A>G	ENST00000378024.4	-	5	9957	c.9683T>C	c.(9682-9684)cTt>cCt	p.L3228P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	99	68	1	110	3228					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGGCCTTTAAGATTGAGGTC	0.408000													1	0	1	1	1	1	1.000000	104	69	1	111	1	1	19	25	1	111	4
NTM	50863	broad.mit.edu	37	11	132180094	132180094	+	Silent	SNP	A	A	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr11:132180094A>C	ENST00000374786.1	+	5	1229	c.750A>C	c.(748-750)tcA>tcC	p.S250S	NTM_ENST00000374784.1_Silent_p.S250S|NTM_ENST00000374791.3_Silent_p.S250S|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000427481.2_Silent_p.S241S|NTM_ENST00000425719.2_Silent_p.S250S|NTM_ENST00000539799.1_Silent_p.S250S	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	76	78	0	155	250	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CAGTCCCCTCAGCAGAATTCC	0.507000													1	0	1	1	1	1	1.000000	80	83	1	172	0	2.424973e-01	0	2	1	172	4
CHD4	1108	broad.mit.edu	37	12	6697558	6697558	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:6697558A>G	ENST00000309577.6	-	23	3534	c.3371T>C	c.(3370-3372)cTt>cCt	p.L1124P	CHD4_ENST00000544484.1_Missense_Mutation_p.L1121P|CHD4_ENST00000357008.2_Missense_Mutation_p.L1124P|CHD4_ENST00000544040.1_Missense_Mutation_p.L1117P			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	17	54	0	86	1124	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|zinc ion binding			central_nervous_system(2)	2						TCGAGTGGAAAGCAAGAAGCA	0.428000													1	1	1	1	1	1	0.999992	18	63	0	90	1	9.999913e-01	51	29	0	90	5
CHD4	1108	broad.mit.edu	37	12	6710697	6710697	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:6710697C>T	ENST00000309577.6	-	6	721		c.e6-1		CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000357008.2_Splice_Site|CHD4_ENST00000544040.1_Splice_Site			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	130	125	0	337						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						AATGAGGGGTCTGGTGGAGAA	0.438000													1	1	1	1	1	1	1.000000	142	135	0	359	0	1	0	33	0	359	5
CBX5	23468	broad.mit.edu	37	12	54645939	54645939	+	Nonsense_Mutation	SNP	A	A	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:54645939A>T	ENST00000209875.4	-	3	346	c.210T>A	c.(208-210)taT>taA	p.Y70*	CBX5_ENST00000439541.2_Nonsense_Mutation_p.Y70*|CBX5_ENST00000550411.1_Nonsense_Mutation_p.Y70*	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	14	59	0	48	70	Chromo 1.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TCATCTTCTTATACTTTTTCA	0.363000													1	1	1	1	1	1	0.999857	14	59	0	48	1	9.999040e-01	2	75	0	48	5
ANO4	121601	broad.mit.edu	37	12	101295475	101295475	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr12:101295475G>T	ENST00000538618.1	+	4	410	c.410G>T	c.(409-411)cGg>cTg	p.R137L	ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	44	26	0	82	0						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATCCATCAACGGCGAAGTGTG	0.502000										HNSCC(74;0.22)			1	0	1	1	0	1	1.000000	45	26	0	83	0	4.002221e-01	1	1	0	83	3
NOVA1	4857	broad.mit.edu	37	14	26949251	26949251	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr14:26949251C>T	ENST00000539517.2	-	3	696	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	NOVA1_ENST00000344429.5_Missense_Mutation_p.V127M|NOVA1_ENST00000574031.1_Missense_Mutation_p.V127M|NOVA1_ENST00000267422.7_Missense_Mutation_p.V5M|NOVA1_ENST00000547619.1_Missense_Mutation_p.V127M|NOVA1_ENST00000465357.2_Missense_Mutation_p.V127M	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	13	48	0	74	130					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GTCTTGGCCACATTTTGGGGC	0.438000													1	1	1	1	1	1	0.999725	13	51	0	79	1	5.853599e-01	3	6	0	79	5
ARHGAP5	394	broad.mit.edu	37	14	32562648	32562648	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr14:32562648C>A	ENST00000345122.3	+	2	3088	c.2773C>A	c.(2773-2775)Cat>Aat	p.H925N	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.H925N|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.H925N|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.H925N	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	21	17	0	39	925					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	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)		ATCTCAGTATCATCGGCAAAC	0.323000													1	1	1	1	1	1	1.000000	23	18	0	41	1	9.999871e-01	10	13	0	41	5
PRPF8	10594	broad.mit.edu	37	17	1563260	1563260	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:1563260C>T	ENST00000572621.1	-	30	5086	c.4821G>A	c.(4819-4821)gaG>gaA	p.E1607E	PRPF8_ENST00000304992.6_Silent_p.E1607E			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	10	106	0	51	1607						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTTGTACTGTCTCAATTTCCA	0.413000													1	0	1	1	0	1	0.997258	10	117	0	58	1	9.998762e-01	23	191	0	58	3
TP53	7157	broad.mit.edu	37	17	7577498	7577498	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:7577498C>T	ENST00000420246.2	-	7	915		c.e7+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	27	55	0	41						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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(29)|p.0?(8)|p.E258fs*71(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TGGCTCCTGACCTGGAGTCTT	0.572000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	30	60	0	44	1	1	258	33	0	44	5
TP53	7157	broad.mit.edu	37	17	7578382	7578382	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:7578382G>C	ENST00000420246.2	-	5	680	c.548C>G	c.(547-549)tCa>tGa	p.S183*	TP53_ENST00000413465.2_Nonsense_Mutation_p.S183*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.S183*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S183*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S183*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S183*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	48	40	0	52	183	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> L (in sporadic cancers; somatic mutation).|S -> 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S183*(29)|p.0?(8)|p.H178_S183delHHERCS(3)|p.R174fs*24(3)|p.?(2)|p.S183L(2)|p.S51*(2)|p.S90*(2)|p.V173fs*59(2)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.H46_S51delHHERCS(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.D184fs*4(1)|p.R42fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		ATCGCTATCTGAGCAGCGCTC	0.647000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	52	42	0	53	1	1	15	212	0	53	5
MAPK7	5598	broad.mit.edu	37	17	19284178	19284178	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:19284178C>A	ENST00000308406.5	+	4	1042	c.656C>A	c.(655-657)aCt>aAt	p.T219N	MAPK7_ENST00000299612.7_Missense_Mutation_p.T80N|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Missense_Mutation_p.T219N|MAPK7_ENST00000395602.4_Missense_Mutation_p.T219N	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	4	71	0	25	219	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			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TACTTCATGACTGAGTATGTG	0.527000													0	0	1	0	0	1	0.892107	4	78	0	27	1	6.488935e-01	3	38	0	27	1
WNT9B	7484	broad.mit.edu	37	17	44953734	44953734	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:44953734T>A	ENST00000393461.2	+	4	777	c.724T>A	c.(724-726)Tat>Aat	p.Y242N	WNT9B_ENST00000290015.2_Missense_Mutation_p.Y242N			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	37	46	0	89	242					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			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GAAACTGCGCTATGACTCGGC	0.647000													1	1	1	1	1	1	1.000000	41	51	0	98	0	0	0	0	0	98	5
SOX9	6662	broad.mit.edu	37	17	70120195	70120195	+	Silent	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr17:70120195G>A	ENST00000245479.2	+	3	1569	c.1197G>A	c.(1195-1197)acG>acA	p.T399T		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	10	175	0	155	399					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			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACATCAAGACGGAGCAGCTGA	0.682000													1	1	1	1	0	1	0.998476	11	189	0	157	1	5.064530e-01	3	26	0	157	4
VPS4B	9525	broad.mit.edu	37	18	61067363	61067363	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr18:61067363A>C	ENST00000238497.5	-	7	911	c.708T>G	c.(706-708)atT>atG	p.I236M	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	26	26	0	52	236					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			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						AGAGAGAATCAATTTCATCAA	0.343000													1	1	1	1	1	1	1.000000	30	27	0	55	1	1	11	37	0	55	5
ZNF77	58492	broad.mit.edu	37	19	2934121	2934121	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:2934121C>T	ENST00000314531.4	-	4	1096	c.1004G>A	c.(1003-1005)tGt>tAt	p.C335Y		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	26	7	0	59	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)		AGACGAGTAACAAGTGAACGC	0.488000													1	1	1	1	1	1	1.000000	27	7	0	61	1	9.999985e-01	13	2	0	61	5
KDM4B	23030	broad.mit.edu	37	19	5137981	5137981	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:5137981A>C	ENST00000159111.4	+	18	2668	c.2450A>C	c.(2449-2451)cAc>cCc	p.H817P	KDM4B_ENST00000536461.1_Missense_Mutation_p.H851P	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	5	13	0	24	817					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			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGTGGATCCACGTGATCTGT	0.672000													1	1	1	1	1	1	0.947670	5	13	0	30	1	9.959098e-01	6	32	0	30	5
RYR1	6261	broad.mit.edu	37	19	38976497	38976497	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:38976497C>T	ENST00000355481.4	+	34	5333	c.5202C>T	c.(5200-5202)atC>atT	p.I1734I	RYR1_ENST00000359596.3_Silent_p.I1734I|RYR1_ENST00000360985.3_Silent_p.I1734I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	48	56	0	126	1734	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			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGAATACATCGTGCCCCTCA	0.632000													1	1	1	1	1	1	1.000000	68	74	0	135	0	0	0	0	0	135	5
ZNF667	63934	broad.mit.edu	37	19	56953959	56953959	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr19:56953959C>G	ENST00000504904.3	-	7	1124	c.405G>C	c.(403-405)aaG>aaC	p.K135N	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.K263N|ZNF667_ENST00000292069.6_Missense_Mutation_p.K135N			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	47	50	0	112	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AATGCCCTTTCTTAGGTTTTA	0.393000													1	1	1	1	1	1	1.000000	49	57	0	123	1	9.986680e-01	9	7	0	123	5
SYCP2	10388	broad.mit.edu	37	20	58448922	58448922	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr20:58448922G>A	ENST00000357552.3	-	35	3769	c.3544C>T	c.(3544-3546)Cca>Tca	p.P1182S	SYCP2_ENST00000371001.2_Missense_Mutation_p.P1182S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	9	27	0	18	1182					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			AAAAACAGTGGTCGTGGAATT	0.338000													1	1	1	1	1	1	0.995997	9	32	0	18	0	0	0	0	0	18	5
COL6A2	0	broad.mit.edu	37	21	47552223	47552223	+	Silent	SNP	C	C	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr21:47552223C>T	ENST00000300527.4	+	28	2921	c.2817C>T	c.(2815-2817)caC>caT	p.H939H		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	13	17	0	23	939	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCCGGAGGCACGCAGAGCTGT	0.657000													1	1	1	1	1	1	0.999937	14	21	0	24	1	1	734	1253	0	24	5
RPS6KA3	6197	broad.mit.edu	37	X	20185863	20185863	+	Silent	SNP	T	T	C			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chrX:20185863T>C	ENST00000379565.3	-	17	1653	c.1446A>G	c.(1444-1446)gtA>gtG	p.V482V	RPS6KA3_ENST00000379548.4_Silent_p.V452V|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Silent_p.V454V|RPS6KA3_ENST00000540702.1_Silent_p.V453V	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	3	44	0	145	482	Protein kinase 2.				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			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						CATCATCATATACCTATAAAT	0.274000													0	0	1	0	0	1	0.812596	3	47	0	157	1	3.907326e-01	2	16	0	157	1
LONRF3	79836	broad.mit.edu	37	X	118109480	118109480	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chrX:118109480T>G	ENST00000365713.2	+	1	900	c.737T>G	c.(736-738)cTc>cGc	p.L246R	LONRF3_ENST00000371628.3_Missense_Mutation_p.L246R|LONRF3_ENST00000304778.7_Missense_Mutation_p.L246R			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	10	0	0	22	246					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GCGTCGCAACTCCGGCACGAG	0.687000													1	1	1	1	0	1	0.999997	12	0	0	23	0	0	1	0	0	23	4
PIK3R1	5295	broad.mit.edu	37	5	67589269	67589270	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N8-A4PI-01A-21D-A28R-08	TCGA-N8-A4PI-10A-01D-A28U-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6d1461c3-5dbf-4c2b-be33-d525dab72592	737ff135-549c-468c-9ce9-d5b4a845cf64	g.chr5:67589269_67589270insT	ENST00000521381.1	+	10	1873_1874	c.1257_1258insT	c.(1255-1260)aatggafs	p.G420fs	PIK3R1_ENST00000336483.5_Frame_Shift_Ins_p.G150fs|PIK3R1_ENST00000523872.1_Frame_Shift_Ins_p.G57fs|PIK3R1_ENST00000320694.8_Frame_Shift_Ins_p.G120fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.G420fs|PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.G420fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.G420fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	12	13	0	34	420	SH2 1.				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.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		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)	ATAATCCCAAATTGGATGTGAA	0.347000			Mis, F, O		gliobastoma, ovarian, colorectal					TCGA GBM(4;<1E-08)			1	0	1	1	0	1	0.999625	12	25	0	35	1	1	35	204	0	35	3
USP48	84196	broad.mit.edu	37	1	22073590	22073590	+	Silent	SNP	A	A	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:22073590A>G	ENST00000308271.9	-	8	1609	c.961T>C	c.(961-963)Ttg>Ctg	p.L321L	USP48_ENST00000400301.1_Silent_p.L321L|USP48_ENST00000421625.2_Silent_p.L321L|USP48_ENST00000529637.1_Silent_p.L321L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	4	12	0	20	321					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		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)		TCCATATCCAAAATTTCTGAG	0.328000													1	0	1	1	1	1	0.946554	5	15	0	24	1	9.985816e-01	3	52	0	24	4
CYP4Z1	199974	broad.mit.edu	37	1	47533227	47533227	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:47533227T>A	ENST00000334194.3	+	1	68	c.65T>A	c.(64-66)aTg>aAg	p.M22K		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	21	19	0	45	22						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CTCCTCTGCATGTCTCTGCTG	0.552000													1	1	1	1	1	1	1.000000	21	20	0	46	0	0	0	0	0	46	5
PIP5K1A	8394	broad.mit.edu	37	1	151205104	151205104	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:151205104C>T	ENST00000409426.1	+	6	973	c.528C>T	c.(526-528)gaC>gaT	p.D176D	PIP5K1A_ENST00000368890.4_Silent_p.D175D|PIP5K1A_ENST00000441902.2_Silent_p.D176D|PIP5K1A_ENST00000368888.4_Silent_p.D188D			Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	11	42	0	70	188	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	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)			TGTCCAGCGACGATGAGTTCA	0.473000													1	1	1	1	1	1	0.998925	11	43	0	72	1	9.999935e-01	35	76	0	72	5
ARHGAP30	257106	broad.mit.edu	37	1	161019440	161019440	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:161019440G>T	ENST00000368013.3	-	11	1780	c.1460C>A	c.(1459-1461)gCa>gAa	p.A487E	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.A310E|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.A487E	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	18	83	0	86	487					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCCTGAGTCTGCCAGGGGACT	0.557000													1	1	1	1	1	1	0.999998	20	88	0	96	0	2.428436e-01	0	5	0	96	5
IVNS1ABP	10625	broad.mit.edu	37	1	185268857	185268857	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:185268857C>T	ENST00000367498.3	-	14	2282	c.1660G>A	c.(1660-1662)Gtg>Atg	p.V554M	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.V336M	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	25	99	0	163	554					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AGAACAGCCACTCCAGCTCCT	0.418000													1	1	1	1	1	1	1.000000	30	128	0	184	1	1	126	417	0	184	5
LGR6	59352	broad.mit.edu	37	1	202245457	202245457	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:202245457C>G	ENST00000367278.3	+	5	541	c.452C>G	c.(451-453)tCc>tGc	p.S151C	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Missense_Mutation_p.S99C|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	12	47	0	65	151						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AACCTCATCTCCCTGGTCCCG	0.617000													1	1	1	1	1	1	0.999435	12	51	0	69	0	0	0	0	0	69	5
USH2A	7399	broad.mit.edu	37	1	216246463	216246463	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:216246463C>T	ENST00000366943.2	-	28	6138	c.5752G>A	c.(5752-5754)Gag>Aag	p.E1918K	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.E1918K|RP11-22M7.2_ENST00000430890.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	14	16	0	32	1918	Fibronectin type-III 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGACCACCCTCGTAAACACTC	0.478000										HNSCC(13;0.011)			1	1	1	1	1	1	0.999981	15	16	0	36	0	0	0	0	0	36	5
POTEF	728378	broad.mit.edu	37	2	130832627	130832627	+	Silent	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr2:130832627G>A	ENST00000357462.5	-	15	2511	c.2418C>T	c.(2416-2418)acC>acT	p.T806T	POTEF_ENST00000409914.2_Silent_p.T806T			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	33	221	0	264	806	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGGTGGCCTCGGTCAGCAGGA	0.587000													1	1	1	1	1	1	1.000000	34	230	0	269	0	0	0	0	0	269	5
OSBPL6	114880	broad.mit.edu	37	2	179213992	179213992	+	Silent	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr2:179213992C>A	ENST00000190611.4	+	12	1405	c.1029C>A	c.(1027-1029)tcC>tcA	p.S343S	OSBPL6_ENST00000315022.2_Silent_p.S347S|OSBPL6_ENST00000409631.1_Silent_p.S343S|OSBPL6_ENST00000392505.2_Silent_p.S368S|OSBPL6_ENST00000359685.3_Silent_p.S343S|OSBPL6_ENST00000357080.4_Silent_p.S312S|OSBPL6_ENST00000409045.3_Silent_p.S312S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	70	82	0	212	343					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GCTTGCATTCCTCCAACCCCA	0.438000													1	1	1	1	1	1	1.000000	84	92	0	234	0	4.665014e-01	1	2	0	234	5
TTLL4	9654	broad.mit.edu	37	2	219612366	219612366	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr2:219612366C>T	ENST00000392102.1	+	11	2636	c.2296C>T	c.(2296-2298)Cgg>Tgg	p.R766W	TTLL4_ENST00000457313.1_Missense_Mutation_p.R601W|TTLL4_ENST00000442769.1_Missense_Mutation_p.R702W|TTLL4_ENST00000258398.4_Missense_Mutation_p.R766W	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	19	73	0	96	766	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		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)		GTTTGACCTGCGGATCTATGT	0.498000													1	1	1	1	1	1	1.000000	22	79	0	98	1	9.999999e-01	28	91	0	98	5
CAND2	23066	broad.mit.edu	37	3	12858734	12858734	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr3:12858734G>C	ENST00000456430.2	+	10	2344	c.2303G>C	c.(2302-2304)cGt>cCt	p.R768P	CAND2_ENST00000295989.5_Missense_Mutation_p.R675P	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	16	26	0	72	768					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTAGGGACCCGTCCCCCGTGT	0.637000													1	1	1	1	1	1	0.999993	17	28	0	77	1	9.238353e-01	3	7	0	77	5
JAKMIP1	152789	broad.mit.edu	37	4	6064099	6064099	+	Silent	SNP	G	G	A	rs149678000	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:6064099G>A	ENST00000409021.3	-	10	1949	c.1500C>T	c.(1498-1500)cgC>cgT	p.R500R	JAKMIP1_ENST00000410077.2_Silent_p.R335R|JAKMIP1_ENST00000282924.5_Silent_p.R500R|JAKMIP1_ENST00000409371.3_Silent_p.R315R|JAKMIP1_ENST00000409831.1_Silent_p.R500R	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	20	22	0	78	500	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGCGTAGGCGCGTTGCAGGG	0.642000													1	1	1	1	1	1	1.000000	22	23	0	90	1	4.843682e-01	3	0	0	90	5
KCNIP4	80333	broad.mit.edu	37	4	20760463	20760463	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:20760463C>T	ENST00000382148.3	-	3	600	c.264G>A	c.(262-264)tcG>tcA	p.S88S	KCNIP4_ENST00000382152.2_Silent_p.S113S|KCNIP4_ENST00000447367.2_Silent_p.S79S|KCNIP4_ENST00000509207.1_Silent_p.S51S|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382150.4_Silent_p.S92S|KCNIP4_ENST00000359001.5_Silent_p.S51S	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	9	35	0	50	113	EF-hand 1; degenerate.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GAAAGAACTGCGAGTAAATCT	0.378000													1	1	1	1	1	1	0.997850	10	41	0	61	1	8.942374e-01	9	10	0	61	5
FAT4	79633	broad.mit.edu	37	4	126329626	126329626	+	Missense_Mutation	SNP	C	C	T	rs141773516	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:126329626C>T	ENST00000394329.3	+	4	5610	c.5597C>T	c.(5596-5598)aCg>aTg	p.T1866M	FAT4_ENST00000335110.5_Missense_Mutation_p.T164M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	21	42	0	72	1866	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTTTAGCCACGGATGATGAC	0.328000													1	1	1	1	1	1	1.000000	23	46	0	80	0	0	0	0	0	80	5
PCDHB2	0	broad.mit.edu	37	5	140475626	140475626	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr5:140475626G>A	ENST00000194155.4	+	1	1400	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		20	68	0	155	418	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCAGATCCGAATACAACAT	0.517000													1	1	1	1	1	1	1.000000	23	74	0	160	0	0	0	0	0	160	5
GM2A	2760	broad.mit.edu	37	5	150646988	150646988	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr5:150646988C>T	ENST00000357164.3	+	4	883	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	8	34	0	75	186						lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATCAAGATCGCTGCCTCTC	0.557000													1	1	1	1	1	1	0.997930	10	37	0	85	1	9.996887e-01	15	49	0	85	5
GPLD1	2822	broad.mit.edu	37	6	24473848	24473848	+	Splice_Site	SNP	A	A	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:24473848A>G	ENST00000230036.1	-	6	599	c.490_splice	c.e6+1	p.F163_splice	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	13	17	0	22	163						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AAACAGTACCAAAATCACCAG	0.353000													1	1	1	1	1	1	0.999996	17	19	0	24	0	4.615385e-01	1	2	0	24	5
OR2W1	26692	broad.mit.edu	37	6	29012269	29012269	+	Silent	SNP	C	C	T	rs144276666		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:29012269C>T	ENST00000377175.1	-	1	748	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	26	63	0	98	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T228T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTTTTGACTTCGTTCTCAGCA	0.393000													1	1	1	1	1	1	1.000000	27	66	0	102	0	0	0	0	0	102	5
AARS2	57505	broad.mit.edu	37	6	44272877	44272877	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:44272877G>A	ENST00000244571.4	-	11	1495	c.1493C>T	c.(1492-1494)gCg>gTg	p.A498V	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	25	71	0	113	498					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CTCCCCAAGCGCATGGACATC	0.607000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	25	73	0	114	1	9.999462e-01	9	43	0	114	5
HUS1	3364	broad.mit.edu	37	7	48016344	48016344	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr7:48016344C>A	ENST00000258774.5	-	4	471	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	HUS1_ENST00000432325.1_Missense_Mutation_p.V129L	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	24	50	0	101	150					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TCTGGGACCACCGGTTCTTGT	0.458000								Direct reversal of damage;Other conserved DNA damage response genes					1	1	1	1	1	1	1.000000	28	56	0	108	1	9.893405e-01	2	16	0	108	5
SLCO5A1	81796	broad.mit.edu	37	8	70744166	70744166	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:70744166G>A	ENST00000260126.3	-	2	1449	c.743C>T	c.(742-744)cCt>cTt	p.P248L	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P248L|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P248L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	29	15	0	85	248						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ACAGGCCGGAGGCTCCAAAGT	0.572000													1	1	1	1	1	1	1.000000	35	17	0	91	1	8.809524e-01	3	1	0	91	5
SLC26A7	115111	broad.mit.edu	37	8	92346559	92346559	+	Silent	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:92346559C>A	ENST00000276609.3	+	6	918	c.679C>A	c.(679-681)Cga>Aga	p.R227R	SLC26A7_ENST00000523719.1_Silent_p.R227R|SLC26A7_ENST00000309536.2_Silent_p.R227R	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	7	22	0	52	227						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			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAAGTCTGTGCGACTGGAAGC	0.328000													1	1	1	1	0	1	0.996349	9	24	0	59	0	0	0	0	0	59	4
GEM	2669	broad.mit.edu	37	8	95262747	95262747	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:95262747C>T	ENST00000297596.2	-	5	946	c.682G>A	c.(682-684)Gtg>Atg	p.V228M	GEM_ENST00000396194.2_Missense_Mutation_p.V228M	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	8	36	0	60	228					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGCTCCTTCACGTTGTGCTGG	0.562000													1	1	1	1	1	1	0.997869	10	40	0	66	1	9.948172e-01	9	33	0	66	5
DENND3	22898	broad.mit.edu	37	8	142175305	142175305	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:142175305C>T	ENST00000519811.1	+	11	1540	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	DENND3_ENST00000262585.2_Silent_p.F410F|DENND3_ENST00000424248.1_Silent_p.F358F			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	44	51	0	124	410										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	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)			CCTACATGTTCCATTCTTTTC	0.567000													1	1	1	1	1	1	1.000000	48	56	0	132	1	6.260144e-01	4	0	0	132	5
ADAMTSL1	92949	broad.mit.edu	37	9	18635979	18635979	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr9:18635979C>A	ENST00000380548.4	+	6	979	c.640C>A	c.(640-642)Cat>Aat	p.H214N	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.H214N|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.H214N|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.H214N	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	28	20	0	69	214						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGGAAGTAGACATATTCGCCT	0.348000													1	1	1	1	1	1	1.000000	31	23	0	85	1	9.944690e-01	5	4	0	85	5
DNLZ	728489	broad.mit.edu	37	9	139257510	139257510	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr9:139257510C>T	ENST00000371738.3	-	2	373	c.299G>A	c.(298-300)tGc>tAc	p.C100Y	DNLZ_ENST00000371739.3_Intron	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	32	56	0	108	100							metal ion binding			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		GCAGCCGGGGCAGGTCACAAT	0.617000													1	1	1	1	1	1	1.000000	38	60	0	120	1	1	89	226	0	120	5
KIF11	3832	broad.mit.edu	37	10	94369210	94369210	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr10:94369210A>C	ENST00000260731.3	+	6	732	c.642A>C	c.(640-642)ttA>ttC	p.L214F		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	16	185	0	263	214	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			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCAAATTTTAGAAAAGGGGG	0.373000													1	1	1	1	0	1	0.999993	19	213	0	284	0	7.920468e-01	1	34	0	284	4
FAM160A2	84067	broad.mit.edu	37	11	6236077	6236077	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:6236077G>T	ENST00000265978.4	-	10	2680	c.2322C>A	c.(2320-2322)aaC>aaA	p.N774K	FAM160A2_ENST00000449352.2_Missense_Mutation_p.N760K|FAM160A2_ENST00000529360.1_5'UTR	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	21	1	0	32	760					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGCAGGAAGTTGACATAGA	0.597000													1	1	1	1	1	1	1.000000	23	1	0	33	1	1	68	0	0	33	5
ARNTL	406	broad.mit.edu	37	11	13393792	13393792	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:13393792C>T	ENST00000389708.3	+	13	1258	c.903C>T	c.(901-903)gaC>gaT	p.D301D	ARNTL_ENST00000403510.3_Silent_p.D257D|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000401424.1_Silent_p.D258D|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000396441.3_Silent_p.D300D|ARNTL_ENST00000389707.4_Silent_p.D300D|ARNTL_ENST00000403290.1_Silent_p.D301D|ARNTL_ENST00000403482.3_Silent_p.D299D			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	35	2	0	91	301					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGGATGAAGACAACGAACCAG	0.498000													1	1	1	1	1	1	1.000000	36	2	0	92	1	9.999012e-01	6	0	0	92	5
TSG101	7251	broad.mit.edu	37	11	18503375	18503375	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:18503375A>T	ENST00000536719.1	-	9	1019	c.885T>A	c.(883-885)gaT>gaA	p.D295E	TSG101_ENST00000251968.3_Missense_Mutation_p.D295E|TSG101_ENST00000357193.3_Missense_Mutation_p.D190E			Q99816	TS101_HUMAN	tumor susceptibility 101	10	8	0	71	295					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			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						TGAGTTCTTCATCCTTCTTTT	0.363000													1	1	1	1	1	1	0.999238	10	8	0	76	1	1	77	65	0	76	5
OR5M8	219484	broad.mit.edu	37	11	56258788	56258788	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:56258788C>T	ENST00000327216.2	-	1	83	c.59G>A	c.(58-60)cGg>cAg	p.R20Q		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	58	5	0	135	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTGTAATTCCCGGCGACTGGT	0.483000													1	1	1	1	1	1	1.000000	67	5	0	146	0	0	0	0	0	146	5
AHNAK	79026	broad.mit.edu	37	11	62300151	62300151	+	Missense_Mutation	SNP	C	C	T	rs138061218		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:62300151C>T	ENST00000378024.4	-	5	2012	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	30	4	0	84	580					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTTAGGTGCGGCCACATTT	0.507000													1	1	1	1	1	1	1.000000	32	4	0	88	1	9.999845e-01	2	7	0	88	5
B3GAT1	27087	broad.mit.edu	37	11	134253812	134253812	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:134253812G>A	ENST00000524765.1	-	3	4927	c.383C>T	c.(382-384)cCg>cTg	p.P128L	B3GAT1_ENST00000537389.1_Missense_Mutation_p.P141L|B3GAT1_ENST00000392580.1_Missense_Mutation_p.P128L|B3GAT1_ENST00000312527.4_Missense_Mutation_p.P128L			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	8	4	0	38	128					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	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)		CGCGGTCAGCGGCGTCCGGCG	0.716000													1	1	1	1	0	1	0.999623	10	4	0	43	1	9.422085e-01	5	0	0	43	4
GAPDH	2597	broad.mit.edu	37	12	6646101	6646101	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:6646101A>C	ENST00000229239.5	+	5	918	c.252A>C	c.(250-252)aaA>aaC	p.K84N	GAPDH_ENST00000396856.1_Missense_Mutation_p.K9N|GAPDH_ENST00000396859.1_Missense_Mutation_p.K84N|GAPDH_ENST00000396861.1_Missense_Mutation_p.K84N|GAPDH_ENST00000396858.1_Missense_Mutation_p.K42N	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	148	161	0	248	84	Interaction with WARS.				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	ATCCCTCCAAAATCAAGTGGG	0.607000													1	1	1	1	1	1	1.000000	163	186	0	265	1	1	109	107	0	265	5
NOP2	4839	broad.mit.edu	37	12	6666174	6666174	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:6666174C>G	ENST00000541778.1	-	16	2900	c.2412G>C	c.(2410-2412)caG>caC	p.Q804H	NOP2_ENST00000399466.2_Missense_Mutation_p.Q804H|NOP2_ENST00000545200.1_3'UTR|NOP2_ENST00000382421.3_Missense_Mutation_p.Q841H|NOP2_ENST00000322166.5_Missense_Mutation_p.Q808H|NOP2_ENST00000537442.1_Missense_Mutation_p.Q808H			P46087	NOP2_HUMAN	NOP2 nucleolar protein	37	35	0	43	808					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ATAGCAGCAGCTGGCTGTTGC	0.567000													1	1	1	1	1	1	1.000000	39	36	0	47	1	1	92	152	0	47	5
AEBP2	121536	broad.mit.edu	37	12	19615449	19615449	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:19615449G>A	ENST00000266508.9	+	2	678	c.677G>A	c.(676-678)aGc>aAc	p.S226N	AEBP2_ENST00000398864.3_Missense_Mutation_p.S226N|AEBP2_ENST00000541908.1_5'UTR|AEBP2_ENST00000360995.4_Missense_Mutation_p.S10N	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	7	11	0	17	226	Interaction with RBBP4.|Ser-rich.				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)					TGTAGCATAAGCAGTACTATA	0.333000													1	0	1	1	1	1	0.988321	7	11	0	19	1	9.976782e-01	6	20	0	19	4
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	9	1	0	12	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			0	1	1	1	0	1	0.999685	9	1	0	12	1	9.998271e-01	10	1	0	12	3
SRSF9	8683	broad.mit.edu	37	12	120903456	120903456	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:120903456C>T	ENST00000229390.3	-	2	506	c.323G>A	c.(322-324)aGa>aAa	p.R108K		NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9	12	34	0	60	108					mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						GAAATCAGATCTTCTTGTAGG	0.468000													1	1	0	1	1	1	0.999504	12	39	0	68	1	1	2	522	0	68	4
PCDH9	5101	broad.mit.edu	37	13	67802394	67802394	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr13:67802394G>A	ENST00000544246.1	-	2	870	c.179C>T	c.(178-180)gCc>gTc	p.A60V	PCDH9_ENST00000328454.5_Missense_Mutation_p.A60V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A60V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A60V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A60V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	18	51	0	70	60	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GACAAGGCTGGCGCTGGTCCC	0.458000													1	1	1	1	1	1	0.999999	20	54	0	75	0	0	0	0	0	75	5
MYO16	23026	broad.mit.edu	37	13	109793236	109793236	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr13:109793236C>T	ENST00000356711.2	+	32	4736	c.4610C>T	c.(4609-4611)cCg>cTg	p.P1537L	MYO16_ENST00000357550.2_Missense_Mutation_p.P1537L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	5	16	0	28	1537	Pro-rich.				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			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	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)			GGGTCGAGCCCGCTGTCCCCG	0.716000													1	0	1	1	0	1	0.945659	5	17	0	31	0	0	0	1	0	31	3
TINF2	26277	broad.mit.edu	37	14	24709663	24709663	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr14:24709663C>T	ENST00000399423.4	-	6	1353	c.1023G>A	c.(1021-1023)aaG>aaA	p.K341K	TINF2_ENST00000540705.1_Silent_p.K306K|TINF2_ENST00000538777.1_Silent_p.K127K|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000267415.7_Silent_p.K341K	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	16	14	0	71	341					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CTGGGTTCTCCTTCAGAGCCC	0.532000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				1	1	1	1	1	1	0.999999	18	15	0	78	1	1	41	34	0	78	5
ALOX12	239	broad.mit.edu	37	17	6900279	6900279	+	Silent	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:6900279G>A	ENST00000251535.6	+	2	323	c.270G>A	c.(268-270)gcG>gcA	p.A90A	AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	5	11	0	13	90	PLAT.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GAGCCTGCGCGGAGGTGGCCT	0.701000													0	1	1	1	1	1	0.975154	6	11	0	14	1	8.090285e-01	5	3	0	14	4
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:7578203C>A	ENST00000420246.2	-	6	778	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V216L|TP53_ENST00000455263.2_Missense_Mutation_p.V216L|TP53_ENST00000413465.2_Missense_Mutation_p.V216L|TP53_ENST00000269305.4_Missense_Mutation_p.V216L|TP53_ENST00000359597.4_Missense_Mutation_p.V216L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	17	30	0	44	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GGCACCACCACACTATGTCGA	0.537000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	0.999998	19	32	0	50	1	1	113	122	0	50	5
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	22	18	0	66	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GCAGCGCTCATGGTGGGGGCA	0.642000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	25	19	0	70	1	1	123	137	0	70	5
MYH8	4626	broad.mit.edu	37	17	10304252	10304252	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:10304252C>T	ENST00000403437.2	-	26	3373	c.3279G>A	c.(3277-3279)ttG>ttA	p.L1093L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	5	15	0	38	1093					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTTGCTTATCAAATTGCTGA	0.333000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				1	0	1	1	1	1	0.945659	5	17	0	41	0	0	0	0	0	41	4
ZNF286B	729288	broad.mit.edu	37	17	18565523	18565523	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:18565523A>C	ENST00000545289.1	-	5	1546	c.1296T>G	c.(1294-1296)atT>atG	p.I432M		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	19	24	0	47	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						CTCCAGTGTGAATTCTCTGAT	0.388000													1	0	1	1	1	1	1.000000	20	25	0	38	0	0	1	0	0	38	4
ABCA9	10350	broad.mit.edu	37	17	67008130	67008130	+	Missense_Mutation	SNP	A	A	G	rs144122311		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:67008130A>G	ENST00000340001.4	-	23	3345	c.3134T>C	c.(3133-3135)aTt>aCt	p.I1045T	ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T|ABCA9_ENST00000453985.2_Missense_Mutation_p.I1045T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	21	16	0	39	1045					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTAGTCACCAATGCTGCTCAT	0.403000													1	1	1	1	1	1	1.000000	21	20	0	40	0	0	1	0	0	40	5
SDK2	54549	broad.mit.edu	37	17	71346393	71346393	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:71346393C>G	ENST00000392650.3	-	43	6021	c.6021G>C	c.(6019-6021)aaG>aaC	p.K2007N	SDK2_ENST00000388726.3_Missense_Mutation_p.K1988N|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	4	10	0	20	2007					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACAGGCCGTTCTTTCGGCAGA	0.612000													1	1	1	1	1	1	0.900958	4	10	0	20	1	8.830918e-01	2	11	0	20	5
EXOC7	23265	broad.mit.edu	37	17	74079821	74079821	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:74079821C>T	ENST00000607838.1	-	20	2126	c.2032G>A	c.(2032-2034)Gtg>Atg	p.V678M	EXOC7_ENST00000411744.2_Missense_Mutation_p.V647M|EXOC7_ENST00000332065.5_Missense_Mutation_p.V624M|EXOC7_ENST00000405575.4_Missense_Mutation_p.V664M|EXOC7_ENST00000335146.7_Missense_Mutation_p.V706M|EXOC7_ENST00000589210.1_Missense_Mutation_p.V655M|EXOC7_ENST00000467929.2_Missense_Mutation_p.V627M	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	41	9	0	62	706					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GTGAAGGGCACGCTGCCAAAC	0.612000													1	1	1	1	1	1	1.000000	44	9	0	66	1	1	131	81	0	66	5
CYP4F3	4051	broad.mit.edu	37	19	15760898	15760898	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:15760898C>T	ENST00000221307.7	+	7	871	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	CYP4F3_ENST00000591058.1_Missense_Mutation_p.R275C|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R275C|CYP4F3_ENST00000586182.1_Missense_Mutation_p.R275C|CYP4F3_ENST00000592424.1_3'UTR	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	48	53	0	142	275					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			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCAGGAGCGGCGCCGCACCCT	0.572000													1	1	1	1	1	1	1.000000	51	54	0	146	0	0	0	0	0	146	5
PPP2R1A	5518	broad.mit.edu	37	19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:52715971C>G	ENST00000322088.6	+	5	594	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	19	34	0	95	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen 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	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	1.000000	30	46	0	96	1	1	412	389	0	96	5
PEG3	5178	broad.mit.edu	37	19	57326398	57326398	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:57326398G>A	ENST00000326441.9	-	10	3775	c.3412C>T	c.(3412-3414)Cgg>Tgg	p.R1138W	PEG3_ENST00000593695.1_Missense_Mutation_p.R1012W|PEG3_ENST00000423103.2_Missense_Mutation_p.R1138W|PEG3_ENST00000598410.1_Missense_Mutation_p.R1014W|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	44	66	1	131	1138					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTGTACTCCCGACTGTCAACC	0.483000													1	0	1	1	1	1	1.000000	48	75	1	139	0	0	0	0	1	139	4
LYPLA2	11313	broad.mit.edu	37	1	24119221	24119226	+	In_Frame_Del	DEL	GTGTCT	GTGTCT	-			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			GTGTCT	-	GTGTCT	GTGTCT		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:24119221_24119226delGTGTCT	ENST00000374514.3	+	2	356_361	c.49_54delGTGTCT	c.(49-54)del	p.VS17del	LYPLA2_ENST00000374505.2_In_Frame_Del_p.VS17del|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374502.3_In_Frame_Del_p.VS17del|LYPLA2_ENST00000400061.1_In_Frame_Del_p.VS17del|LYPLA2_ENST00000374503.3_In_Frame_Del_p.VS17del	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	15	72	0	138	17					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		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)		TGCTGCCACCGTGTCTGGAGCTGAGC	0.650000													1	1	1	1	0	1	0.999959	16	84	0	137	0	1	0	230	0	137	4
PTPN6	5777	broad.mit.edu	37	12	7064144	7064145	+	In_Frame_Ins	INS	-	-	GGTCAT			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			-	GGTCAT	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:7064144_7064145insGGTCAT	ENST00000456013.1	+	4	745_746	c.503_504insGGTCAT	c.(502-504)agt>aGGTCATgt	p.168_168S>RSC	PTPN6_ENST00000447931.2_In_Frame_Ins_p.129_129S>RSC|PTPN6_ENST00000399448.1_In_Frame_Ins_p.170_170S>RSC|PTPN6_ENST00000318974.9_In_Frame_Ins_p.168_168S>RSC	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	40	78	0	90	168	SH2 2.				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)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ACCCACATCAAGGTCATGTGCG	0.653000													1	1	1	1	0	1	1.000000	40	129	0	91	0	9.999907e-01	0	62	0	91	4
ZFHX3	463	broad.mit.edu	37	16	72821810	72821810	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr16:72821810delG	ENST00000268489.5	-	10	11037	c.10365delC	c.(10363-10365)ccfs	p.P3455fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.P2541fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	51	13	0	147	3455					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			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAACAATGAAGGGGTCGTAGA	0.582000													1	1	1	1	0	1	1.000000	51	65	0	149	1	9.999371e-01	11	13	0	149	4
PTCHD2	57540	broad.mit.edu	37	1	11589625	11589625	+	Silent	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:11589625C>T	ENST00000294484.6	+	14	2949	c.2811C>T	c.(2809-2811)ttC>ttT	p.F937F	PTCHD2_ENST00000389575.3_Silent_p.F937F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	39	106	0	145	937					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	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)		AGCTGTACTTCGCCCAGTCCC	0.652000													1	1	1	1	1	1	1.000000	42	116	0	156	0	0	1	0	0	156	5
KIAA2013	90231	broad.mit.edu	37	1	11985518	11985518	+	Silent	SNP	C	C	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:11985518C>A	ENST00000376572.3	-	1	962	c.777G>T	c.(775-777)gtG>gtT	p.V259V	KIAA2013_ENST00000376576.3_Silent_p.V259V	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	20	16	0	37	259						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		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)		CCACCAGGTGCACCAACCCAG	0.647000													0	0	1	1	0	1	1.000000	20	17	0	28	0	0	0	0	0	28	2
INADL	10207	broad.mit.edu	37	1	62586895	62586895	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:62586895G>A	ENST00000371158.2	+	38	5047	c.4933G>A	c.(4933-4935)Gct>Act	p.A1645T	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	49	53	0	126	1645					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TCCCTCCTTCGCTCCTGTCAT	0.507000													1	1	1	1	1	1	1.000000	56	61	0	142	1	8.635754e-01	4	2	0	142	5
TDRD10	126668	broad.mit.edu	37	1	154493952	154493952	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr1:154493952G>A	ENST00000368482.4	+	6	1204	c.366G>A	c.(364-366)ccG>ccA	p.P122P	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Silent_p.P122P	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	91	103	0	256	122							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	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)			CTCGGGCCCCGCTGGTATGTC	0.527000													1	1	1	1	1	1	1.000000	94	110	0	279	0	0	0	0	0	279	5
IL1RL2	8808	broad.mit.edu	37	2	102805588	102805588	+	Silent	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:102805588T>C	ENST00000264257.2	+	3	237	c.111T>C	c.(109-111)ccT>ccC	p.P37P	IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Silent_p.P37P	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	18	24	0	53	37	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CAAGCCAGCCTTTTGCTTTTA	0.343000													1	1	1	1	1	1	1.000000	20	25	0	61	0	0	0	0	0	61	5
CCDC141	285025	broad.mit.edu	37	2	179702420	179702420	+	Nonsense_Mutation	SNP	G	G	A	rs143765782	byFrequency	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:179702420G>A	ENST00000420890.2	-	23	3643	c.3526C>T	c.(3526-3528)Cga>Tga	p.R1176*	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Nonsense_Mutation_p.R601*	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	36	54	0	104	601							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTGGTAGTCGCTCTTCCCCT	0.483000													1	1	1	1	1	1	1.000000	39	61	0	116	0	0	0	0	0	116	5
ZDBF2	57683	broad.mit.edu	37	2	207175965	207175965	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:207175965A>T	ENST00000374423.3	+	5	7099	c.6713A>T	c.(6712-6714)tAt>tTt	p.Y2238F		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	12	17	0	20	2238							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CGTCATAGATATCAGTCCAGG	0.373000													1	1	1	1	1	1	0.999883	13	17	0	20	0	0	0	0	0	20	5
ALCAM	214	broad.mit.edu	37	3	105260603	105260603	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr3:105260603G>T	ENST00000306107.5	+	8	1485	c.985G>T	c.(985-987)Gtt>Ttt	p.V329F	ALCAM_ENST00000486979.2_Missense_Mutation_p.V278F|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Missense_Mutation_p.V329F	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	31	17	0	78	329					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AGCTATCACAGTTCACTGTAA	0.393000													1	1	1	1	1	1	1.000000	34	18	0	89	1	7.121212e-01	2	1	0	89	5
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	38	38	0	84	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(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	40	41	0	93	1	1	21	30	0	93	5
UBXN7	26043	broad.mit.edu	37	3	196094903	196094903	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr3:196094903C>T	ENST00000296328.4	-	8	904	c.830G>A	c.(829-831)cGt>cAt	p.R277H	UBXN7_ENST00000428095.1_Missense_Mutation_p.R115H|UBXN7_ENST00000535858.1_Missense_Mutation_p.R129H	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	34	31	0	107	277							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ACTTACTGAACGGGCACATTT	0.383000													1	1	1	1	1	1	1.000000	37	35	0	115	1	9.377215e-01	5	2	0	115	5
RGS12	6002	broad.mit.edu	37	4	3432185	3432185	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr4:3432185G>A	ENST00000336727.3	+	17	4521	c.3617G>A	c.(3616-3618)cGt>cAt	p.R1206H	RGS12_ENST00000538395.1_Missense_Mutation_p.V497M|RGS12_ENST00000338806.4_Missense_Mutation_p.R558H|RGS12_ENST00000382788.3_Missense_Mutation_p.R1206H|RGS12_ENST00000344733.5_Missense_Mutation_p.R1206H|RGS12_ENST00000306648.7_Missense_Mutation_p.V553M	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	33	84	0	151	1206	GoLoco.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATGACCAACGTGGGCTGCTA	0.493000													1	1	1	1	1	1	1.000000	35	86	0	165	1	9.999997e-01	30	36	0	165	5
FBXW7	0	broad.mit.edu	37	4	153244092	153244092	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr4:153244092G>A	ENST00000281708.4	-	12	3294	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	60	69	0	143	689					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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTCCCATTCCGACTCCCAACT	0.478000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	63	73	0	147	1	9.635942e-01	5	4	0	147	5
ADAMTS16	170690	broad.mit.edu	37	5	5200325	5200325	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:5200325G>A	ENST00000274181.7	+	9	1532	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R465H	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	31	17	0	65	465	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TTGGCAGGACGCAATGGAGTC	0.483000													1	1	1	1	1	1	1.000000	33	17	0	71	1	8.688042e-01	3	1	0	71	5
ADAMTS12	81792	broad.mit.edu	37	5	33658404	33658404	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:33658404C>T	ENST00000504830.1	-	7	1410	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E359K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	6	108	0	152	359	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCAGGGTCTCGCAGGGGCGA	0.498000										HNSCC(64;0.19)			1	0	1	1	0	1	0.981615	7	116	0	173	0	0	0	1	0	173	3
ERBB2IP	55914	broad.mit.edu	37	5	65370850	65370850	+	Splice_Site	SNP	A	A	G			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:65370850A>G	ENST00000284037.5	+	23	4145		c.e23-1		ERBB2IP_ENST00000511297.1_Splice_Site|ERBB2IP_ENST00000380939.2_Splice_Site|ERBB2IP_ENST00000380943.2_Splice_Site|ERBB2IP_ENST00000380936.1_Splice_Site|ERBB2IP_ENST00000506030.1_Splice_Site|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380938.2_Splice_Site|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000416865.2_Splice_Site|ERBB2IP_ENST00000503913.1_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	30	18	0	71						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			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		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)		TGTTTTTCTTAGATGCCTTTG	0.398000													1	1	1	1	1	1	1.000000	33	18	0	75	0	9.684089e-01	0	6	0	75	5
PCDHA6	0	broad.mit.edu	37	5	140209120	140209120	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:140209120G>A	ENST00000529310.1	+	1	1558	c.1444G>A	c.(1444-1446)Gcg>Acg	p.A482T	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A482T|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1				67	88	0	203											NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGAGACGCGGACGCGCA	0.657000													1	1	1	1	0	1	1.000000	80	104	0	196	0	0	0	0	0	196	4
PCDHA7	0	broad.mit.edu	37	5	140215891	140215891	+	Silent	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr5:140215891C>T	ENST00000525929.1	+	1	1923	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.D641D	NM_018910.2	NP_061733.1				30	117	0	131											NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGACGGACGCACCGCGCC	0.662000													1	1	1	1	1	1	1.000000	31	122	0	138	0	5.770301e-01	0	9	0	138	5
HLA-C	3107	broad.mit.edu	37	6	31237836	31237836	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr6:31237836T>C	ENST00000383329.3	-	5	936	c.922A>G	c.(922-924)Atc>Gtc	p.I308V	HLA-C_ENST00000376228.5_Missense_Mutation_p.I308V			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	14	48	0	59	308	Connecting peptide.				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				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						ATGCCCATGATGGGGATGGTG	0.612000													1	1	1	1	0	1	1.000000	22	52	0	59	1	1	77	684	0	59	4
TSPAN33	340348	broad.mit.edu	37	7	128806668	128806668	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr7:128806668A>T	ENST00000289407.4	+	6	618	c.509A>T	c.(508-510)tAt>tTt	p.Y170F		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	103	73	0	228	170						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CAGAACATGTATTTCAACTGC	0.527000													1	1	1	1	1	1	1.000000	112	78	0	243	1	1	18	18	0	243	5
KEL	3792	broad.mit.edu	37	7	142641781	142641781	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr7:142641781G>A	ENST00000355265.2	-	12	1836	c.1362C>T	c.(1360-1362)ctC>ctT	p.L454L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	8	21	0	42	454					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAAGGTTTCTGAGGCGAGTGA	0.602000													1	0	1	1	1	1	0.992492	8	25	0	49	0	0	0	0	0	49	4
CCDC107	203260	broad.mit.edu	37	9	35660818	35660818	+	Nonstop_Mutation	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr9:35660818T>C	ENST00000327351.2	+	5	529	c.466T>C	c.(466-468)Tag>Cag	p.*156Q	ARHGEF39_ENST00000378387.3_3'UTR|CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000378406.1_3'UTR|CCDC107_ENST00000421582.2_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378409.3_Silent_p.D162D|CCDC107_ENST00000426546.2_Silent_p.D162D|ARHGEF39_ENST00000343259.3_3'UTR			Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	107	149	0	273	0						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTGCAAGATAGCAAGCCGG	0.537000													1	1	1	1	1	1	1.000000	113	160	0	293	1	1	103	123	0	293	5
ZCCHC6	79670	broad.mit.edu	37	9	88938512	88938512	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr9:88938512C>T	ENST00000277141.6	-	14	2444	c.20G>A	c.(19-21)aGt>aAt	p.S7N	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.S718N|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.S595N|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.S718N			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	22	68	0	91	718					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AGGGTGGACACTGATGTGTTC	0.413000													1	1	1	1	1	1	1.000000	22	68	0	95	0	0	0	1	0	95	5
AGAP4	119016	broad.mit.edu	37	10	46322004	46322004	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:46322004G>A	ENST00000448048.2	-	7	1476	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C		NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	26	149	1	319	451	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)|lung(1)|ovary(1)	3						GCGTTCCCACGCATGTTTTGG	0.557000													0	0	1	1	0	1	1.000000	27	159	0	170	1	4.485163e-01	3	7	0	170	2
CAMK2G	818	broad.mit.edu	37	10	75597241	75597241	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:75597241C>T	ENST00000444854.2	-	6	496	c.376G>A	c.(376-378)Gga>Aga	p.G126R	CAMK2G_ENST00000394762.2_Silent_p.S325S|CAMK2G_ENST00000423381.1_Silent_p.S346S|CAMK2G_ENST00000351293.3_Silent_p.S325S|CAMK2G_ENST00000322635.3_Silent_p.S346S|CAMK2G_ENST00000305762.7_Silent_p.S325S|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000322680.3_Silent_p.S325S|CAMK2G_ENST00000372765.1_Silent_p.S346S			Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	134	102	0	335	0	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			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CACCGCCATCCGACTTCTTGT	0.522000													1	1	1	1	1	1	1.000000	149	111	0	371	1	9.930251e-01	5	4	0	371	5
FAM213A	84293	broad.mit.edu	37	10	82187209	82187209	+	Missense_Mutation	SNP	G	G	T	rs142605674		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:82187209G>T	ENST00000372181.1	+	4	1003	c.533G>T	c.(532-534)gGc>gTc	p.G178V	FAM213A_ENST00000372185.1_Missense_Mutation_p.G167V|FAM213A_ENST00000372187.5_Missense_Mutation_p.G178V|FAM213A_ENST00000372188.1_Missense_Mutation_p.G178V	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	13	31	0	83	178						extracellular region											GAAGGAGAAGGCTTCATCCTT	0.507000													1	1	1	1	1	1	0.999799	13	31	0	87	1	1	37	110	0	87	5
TACC2	10579	broad.mit.edu	37	10	123844141	123844141	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:123844141G>T	ENST00000369005.1	+	4	2466	c.2126G>T	c.(2125-2127)aGa>aTa	p.R709I	TACC2_ENST00000453444.2_Missense_Mutation_p.R709I|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.R709I|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R709I|TACC2_ENST00000515603.1_Missense_Mutation_p.R709I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	31	20	0	78	709						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGATTGGGAAGAATGGAGTCT	0.527000													1	1	1	1	1	1	1.000000	33	20	0	78	0	0	0	1	0	78	5
CYP2E1	1571	broad.mit.edu	37	10	135346210	135346210	+	Silent	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr10:135346210T>C	ENST00000463117.2	+	7	935	c.663T>C	c.(661-663)ttT>ttC	p.F221F	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.F221F			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	5	154	0	196	221					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			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		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)	ACAATAATTTTCCCAGCTTTC	0.378000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				1	0	1	1	0	1	0.981279	7	167	0	216	0	1.285266e-02	0	4	0	216	3
DEPDC7	91614	broad.mit.edu	37	11	33047304	33047304	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:33047304G>A	ENST00000311388.3	+	2	522	c.146G>A	c.(145-147)cGt>cAt	p.R49H	DEPDC7_ENST00000241051.3_Missense_Mutation_p.R58H	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	57	42	0	141	58	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						CGAAGGCACCGTTTAAAACGA	0.393000													1	1	1	1	1	1	1.000000	62	45	0	155	0	0	0	0	0	155	5
OR4A16	81327	broad.mit.edu	37	11	55110833	55110833	+	Silent	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:55110833T>C	ENST00000314721.2	+	1	207	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	29	103	0	138	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L53V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CAGCCCCTCCTTGGGCTCCCT	0.408000													1	1	1	1	1	1	1.000000	31	106	0	147	0	0	0	0	0	147	5
AHNAK	79026	broad.mit.edu	37	11	62293943	62293943	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:62293943G>T	ENST00000378024.4	-	5	8220	c.7946C>A	c.(7945-7947)cCt>cAt	p.P2649H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	49	240	0	301	2649					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTGAAGCCAGGCATGCTGAA	0.527000													1	1	1	1	1	1	1.000000	50	260	0	325	0	0	0	1	0	325	5
CCDC88B	283234	broad.mit.edu	37	11	64111779	64111779	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:64111779C>A	ENST00000356786.5	+	14	1810	c.1766C>A	c.(1765-1767)cCg>cAg	p.P589Q	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	47	51	0	69	589					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGGAGTCCCCGGAGAAGGCT	0.647000													1	1	1	1	1	1	1.000000	47	55	0	75	0	2.113208e-01	0	2	0	75	5
CATSPER1	117144	broad.mit.edu	37	11	65792758	65792758	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:65792758G>A	ENST00000312106.5	-	1	1230	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	34	40	0	74	365					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTGGAGGACCGAGTCATGCTG	0.567000													1	1	1	1	1	1	1.000000	38	41	0	77	0	0	0	0	0	77	5
C11orf30	56946	broad.mit.edu	37	11	76234280	76234280	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:76234280C>T	ENST00000529032.1	+	11	1766	c.1766C>T	c.(1765-1767)aCg>aTg	p.T589M	C11orf30_ENST00000533248.1_Missense_Mutation_p.T603M|C11orf30_ENST00000334736.3_Missense_Mutation_p.T589M|C11orf30_ENST00000525038.1_Missense_Mutation_p.T604M|C11orf30_ENST00000524767.1_Missense_Mutation_p.T604M|C11orf30_ENST00000524490.1_Missense_Mutation_p.T505M|C11orf30_ENST00000525919.1_Missense_Mutation_p.T590M|C11orf30_ENST00000343878.3_Missense_Mutation_p.T589M			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	35	40	0	92	589	Thr-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GGAAAAGGAACGACCATTCAA	0.438000													1	1	1	1	1	1	1.000000	35	40	0	98	0	0	0	0	0	98	5
CTSC	1075	broad.mit.edu	37	11	88027241	88027241	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:88027241C>T	ENST00000227266.5	-	7	1439	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H		NM_001814.4	NP_001805.3	P53634	CATC_HUMAN	cathepsin C	36	46	0	75	442					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGTTCCTCTGCGGATCCGGAA	0.498000													1	1	1	1	1	1	1.000000	37	46	0	78	1	1	322	431	0	78	5
FAT3	120114	broad.mit.edu	37	11	92531160	92531160	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr11:92531160G>A	ENST00000298047.6	+	9	4998	c.4981G>A	c.(4981-4983)Gtc>Atc	p.V1661I	FAT3_ENST00000409404.2_Missense_Mutation_p.V1661I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1511I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	22	66	0	98	1661	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCGCATTTCCGTCACCATGTC	0.443000										TCGA Ovarian(4;0.039)			1	1	1	1	1	1	1.000000	24	72	0	100	0	0	0	0	0	100	5
CHD4	1108	broad.mit.edu	37	12	6700638	6700638	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr12:6700638A>G	ENST00000309577.6	-	22	3497	c.3334T>C	c.(3334-3336)Ttc>Ctc	p.F1112L	CHD4_ENST00000544484.1_Missense_Mutation_p.F1109L|CHD4_ENST00000357008.2_Missense_Mutation_p.F1112L|CHD4_ENST00000544040.1_Missense_Mutation_p.F1105L			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	32	33	0	72	1112	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|zinc ion binding			central_nervous_system(2)	2						TCACCATTGAAGCGGTCAATG	0.433000													1	1	1	1	1	1	1.000000	32	34	0	77	1	1	53	44	0	77	5
RARG	5916	broad.mit.edu	37	12	53606944	53606944	+	Missense_Mutation	SNP	G	G	A	rs143739684		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr12:53606944G>A	ENST00000425354.2	-	9	1589	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	RARG_ENST00000327550.3_Missense_Mutation_p.R296W|RARG_ENST00000394426.1_Missense_Mutation_p.R368W|RARG_ENST00000338561.5_Missense_Mutation_p.R357W|RARG_ENST00000543726.1_Missense_Mutation_p.R346W|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	44	58	0	84	368	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(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CTGGGCCGCCGGCGCCGGGCG	0.602000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	47	61	0	91	1	1	66	70	0	91	5
MYF5	4617	broad.mit.edu	37	12	81111292	81111292	+	Silent	SNP	A	A	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr12:81111292A>T	ENST00000228644.3	+	1	602	c.450A>T	c.(448-450)ggA>ggT	p.G150G		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	93	137	0	243	150					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			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCCTGCCGGGACAGAGCTGCT	0.557000													1	1	1	1	1	1	1.000000	99	148	0	264	0	0	0	0	0	264	5
DCLK1	9201	broad.mit.edu	37	13	36686233	36686233	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:36686233G>A	ENST00000255448.4	-	3	707	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L	DCLK1_ENST00000379892.4_Silent_p.L166L|DCLK1_ENST00000360631.3_Silent_p.L166L	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	58	58	0	103	166					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			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		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)		GCAGTGGCCAGTGAAGACACT	0.537000													1	1	1	1	1	1	1.000000	59	58	0	107	0	0	0	1	0	107	5
OXGR1	27199	broad.mit.edu	37	13	97639792	97639792	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:97639792G>A	ENST00000298440.1	-	4	465	c.222C>T	c.(220-222)aaC>aaT	p.N74N	OXGR1_ENST00000543457.1_Silent_p.N74N	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	34	40	0	43	74						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TGCAGGCCAGGTTCAGCATAA	0.458000													1	1	1	1	1	1	1.000000	35	42	0	45	0	0	0	0	0	45	5
TMTC4	84899	broad.mit.edu	37	13	101315367	101315367	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:101315367T>C	ENST00000342624.5	-	5	661	c.403A>G	c.(403-405)Agt>Ggt	p.S135G	TMTC4_ENST00000328767.5_Intron|TMTC4_ENST00000376234.3_Missense_Mutation_p.S116G	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	49	138	0	123	116						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGATGCCACTGTGCAGGAGG	0.597000													1	0	1	1	1	1	1.000000	54	152	0	141	1	8.880352e-01	5	8	0	141	4
F10	2159	broad.mit.edu	37	13	113777240	113777240	+	Splice_Site	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr13:113777240G>A	ENST00000375559.3	+	1	108		c.e1+1		F10_ENST00000375551.3_Splice_Site|F10_ENST00000409306.1_Splice_Site|F10_ENST00000483537.1_Splice_Site	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	35	19	0	35						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			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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)	GGGGAAAGTCGTAAGTGCCCC	0.662000													1	1	1	1	1	1	1.000000	39	19	0	38	0	0	0	0	0	38	5
MYH7	4625	broad.mit.edu	37	14	23885021	23885021	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr14:23885021G>A	ENST00000355349.3	-	35	5136	c.4974C>T	c.(4972-4974)gaC>gaT	p.D1658D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	28	32	1	58	1658					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			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGACTGCATCGTCCAGCTGAA	0.612000													1	0	1	1	1	1	1.000000	29	35	1	66	0	4.329955e-01	0	3	1	66	4
TTC7B	145567	broad.mit.edu	37	14	91142978	91142978	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr14:91142978C>A	ENST00000357056.2	-	9	1162	c.1041G>T	c.(1039-1041)agG>agT	p.R347S	TTC7B_ENST00000328459.6_Missense_Mutation_p.R347S			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	58	70	0	113	347							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GTTCAGGTATCCTGCTCAGCA	0.527000													1	1	1	1	1	1	1.000000	65	71	0	124	1	6.517864e-01	2	2	0	124	5
NIPA2	81614	broad.mit.edu	37	15	23006811	23006811	+	Silent	SNP	A	A	G			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:23006811A>G	ENST00000337451.3	-	8	1105	c.493T>C	c.(493-495)Tta>Cta	p.L165L	NIPA2_ENST00000398014.2_Silent_p.L165L|NIPA2_ENST00000398013.3_Silent_p.L165L|NIPA2_ENST00000539711.2_Silent_p.L146L|NIPA2_ENST00000359727.4_Silent_p.L146L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	13	43	0	68	165						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		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)		ACGAAGATTAATATCAAGGCC	0.448000													1	1	1	1	1	1	0.999750	13	43	0	73	1	9.955527e-01	9	26	0	73	5
NDN	4692	broad.mit.edu	37	15	23931940	23931940	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:23931940C>T	ENST00000331837.4	-	1	510	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	21	16	0	51	142	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.R142H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		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)		GAGGCTGGTGCGCCGGAGGAT	0.587000									Prader-Willi syndrome				1	1	1	1	1	1	1.000000	23	16	0	55	0	3.484321e-01	0	2	0	55	5
HERC1	8925	broad.mit.edu	37	15	64021494	64021494	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:64021494C>T	ENST00000443617.2	-	16	3182	c.3095G>A	c.(3094-3096)cGt>cAt	p.R1032H		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	5	19	0	23	1032					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATTTGCAGAACGTGAATAAAT	0.343000													1	1	1	1	1	1	0.970955	6	22	0	25	0	0	0	0	0	25	5
SH3GL3	6457	broad.mit.edu	37	15	84257518	84257518	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr15:84257518C>A	ENST00000324537.5	+	11	1349	c.857C>A	c.(856-858)aCg>aAg	p.T286K	SH3GL3_ENST00000434347.1_Missense_Mutation_p.T286K|SH3GL3_ENST00000535412.1_Missense_Mutation_p.T278K|SH3GL3_ENST00000427482.2_Missense_Mutation_p.T278K			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	20	13	0	35	278	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GTAGTGAAGACGACAGGTAAG	0.443000													1	1	1	1	0	1	1.000000	20	14	0	40	0	3.468468e-01	1	1	0	40	4
HS3ST6	64711	broad.mit.edu	37	16	1962039	1962039	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr16:1962039G>A	ENST00000454677.2	-	2	697	c.632C>T	c.(631-633)aCg>aTg	p.T211M	HS3ST6_ENST00000443547.1_Missense_Mutation_p.T163M|HS3ST6_ENST00000293937.3_Missense_Mutation_p.T194M			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	11	14	0	42	163										endometrium(2)|lung(2)	4						CTTGGAGAGCGTCTGGGCGTA	0.731000													1	1	0	1	1	1	0.999906	13	14	0	42	1	9.999286e-01	11	17	0	42	4
RLTPR	146206	broad.mit.edu	37	16	67680200	67680200	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr16:67680200C>T	ENST00000334583.6	+	5	689	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	RLTPR_ENST00000545661.1_Missense_Mutation_p.R121C	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	14	27	0	34	121										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		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)		GGTCTTCCCTCGCTCGACCCT	0.637000													1	1	1	1	1	1	0.999919	14	27	0	35	0	0	0	1	0	35	5
ABR	29	broad.mit.edu	37	17	915093	915093	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr17:915093G>T	ENST00000544583.2	-	19	2555	c.1956C>A	c.(1954-1956)ttC>ttA	p.F652L	ABR_ENST00000291107.2_Missense_Mutation_p.F661L|ABR_ENST00000572441.1_Intron|ABR_ENST00000536794.2_Missense_Mutation_p.F480L|ABR_ENST00000302538.5_Missense_Mutation_p.F698L|ABR_ENST00000543210.2_Missense_Mutation_p.F149L|ABR_ENST00000574437.1_Missense_Mutation_p.F652L	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	15	22	0	93	698	Rho-GAP.				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			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CACTGGCATCGAAGACGGCCT	0.647000													1	1	1	1	1	1	0.999987	16	23	0	94	1	9.723901e-01	5	7	0	94	5
FZD2	2535	broad.mit.edu	37	17	42636256	42636256	+	Silent	SNP	C	C	G			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr17:42636256C>G	ENST00000315323.3	+	1	1332	c.1200C>G	c.(1198-1200)ggC>ggG	p.G400G		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	84	8	0	153	400					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			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCTGAGCGGCGTGTGCTTCG	0.662000													1	1	1	1	1	1	1.000000	90	9	0	164	1	1	158	3	0	164	5
LAMA1	284217	broad.mit.edu	37	18	6965302	6965302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr18:6965302G>A	ENST00000389658.3	-	50	7273	c.7180C>T	c.(7180-7182)Cga>Tga	p.R2394*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	50	42	0	94	2394	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			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCCGGTTTCGCTGGAAGGCA	0.443000													1	1	1	1	1	1	1.000000	56	50	0	101	1	9.998490e-01	4	13	0	101	5
ANKRD12	23253	broad.mit.edu	37	18	9281098	9281098	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr18:9281098G>T	ENST00000383440.2	+	12	6351	c.6094G>T	c.(6094-6096)Gac>Tac	p.D2032Y	ANKRD12_ENST00000262126.3_Missense_Mutation_p.D2055Y|ANKRD12_ENST00000400020.3_Missense_Mutation_p.D2032Y	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	44	64	0	135	2055						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGATGTTAACGACGACTTTGA	0.408000													1	1	1	1	1	1	1.000000	47	70	0	147	0	1.619835e-01	1	1	0	147	5
CLEC17A	388512	broad.mit.edu	37	19	14707736	14707736	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:14707736G>T	ENST00000547437.1	+	9	571	c.494G>T	c.(493-495)tGc>tTc	p.C165F	CLEC17A_ENST00000417570.1_Missense_Mutation_p.C165F|CLEC17A_ENST00000397439.2_Missense_Mutation_p.C148F	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	7	6	0	21	165						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										CCTGGCTGCTGCCAGAAGAGG	0.572000													1	0	1	1	1	1	0.991243	7	6	0	21	0	0	0	0	0	21	4
TGFB1	7040	broad.mit.edu	37	19	41848131	41848131	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:41848131A>C	ENST00000221930.5	-	4	1522	c.656T>G	c.(655-657)cTt>cGt	p.L219R		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	20	14	0	16	219					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	GTGGGCGCTAAGGCGAAAGCC	0.592000													1	1	1	1	1	1	1.000000	21	15	0	18	1	1	181	189	0	18	5
NLRP8	126205	broad.mit.edu	37	19	56466006	56466006	+	Silent	SNP	G	G	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:56466006G>A	ENST00000291971.3	+	3	653	c.582G>A	c.(580-582)ctG>ctA	p.L194L	NLRP8_ENST00000590542.1_Silent_p.L194L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	56	46	0	110	194						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTCTGCTTCTGCCCAAAAGAC	0.522000													1	1	1	1	1	1	1.000000	59	51	0	119	0	0	0	0	0	119	5
TPX2	22974	broad.mit.edu	37	20	30354424	30354424	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr20:30354424G>T	ENST00000340513.4	+	5	823	c.295G>T	c.(295-297)Gct>Tct	p.A99S	TPX2_ENST00000300403.6_Missense_Mutation_p.A99S			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	41	112	0	131	99					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			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			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)			TCCGTCAAATGCTTGTTCTTC	0.428000													1	1	1	1	1	1	1.000000	44	121	0	140	1	9.996914e-01	13	25	0	140	5
ARR3	407	broad.mit.edu	37	X	69489951	69489951	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chrX:69489951C>T	ENST00000374495.3	+	5	200	c.100_splice	c.e5-1	p.D34_splice	ARR3_ENST00000307959.8_Splice_Site_p.D34_splice			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	24	4	0	72	34					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TCTCCACAGACGGTGTTGTCC	0.433000													1	1	1	1	1	1	1.000000	26	4	0	85	0	0	0	0	0	85	5
LRP2	4036	broad.mit.edu	37	2	169997024	169997025	+	Frame_Shift_Ins	INS	-	-	G	rs80338754		TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr2:169997024_169997025insG	ENST00000263816.3	-	72	13424_13425	c.13139_13140insC	c.(13138-13140)ctgfs	p.L4380fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	26	40	0	68	4380	EGF-like 17.				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			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				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)	TGCACCTGCATGGGGGGGGCAG	0.535000													1	1	0	1	0	1	1.000000	26	68	0	68							3
LRRC4	64101	broad.mit.edu	37	7	127670673	127670674	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			-	A	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr7:127670673_127670674insA	ENST00000249363.3	-	2	277_278	c.20_21insT	c.(19-21)gacfs	p.D7fs	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	10	66	0	99	7						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGTGCACAGTTACCTGCCACAA	0.574000													1	1	1	1	0	1	0.997248	10	120	0	142	0	9.999608e-01	0	259	0	142	4
ZFP36L1	677	broad.mit.edu	37	14	69257046	69257073	+	Frame_Shift_Del	DEL	TCACCCTTGAGGCTGCTGAGGAGCTGGT	TCACCCTTGAGGCTGCTGAGGAGCTGGT	-			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08			TCACCCTTGAGGCTGCTGAGGAGCTGGT	-	TCACCCTTGAGGCTGCTGAGGAGCTGGT	TCACCCTTGAGGCTGCTGAGGAGCTGGT		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr14:69257046_69257073delTCACCCTTGAGGCTGCTGAGGAGCTGGT	ENST00000439696.2	-	2	495_522	c.194_221delACCAGCTCCTCAGCAGCCTCAAGGGTGA	c.(193-222)agfs	p.NQLLSSLKGE65fs	ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.NQLLSSLKGE65fs|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	18	41	0	46	65					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGGGGCTGGCTCACCCTTGAGGCTGCTGAGGAGCTGGTTCTGGTGGAA	0.689000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	0	1	0.999999	20	46	0	45	0	1	0	89	0	45	4
TP53	7157	broad.mit.edu	37	17	7579324	7579325	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr17:7579324_7579325delAG	ENST00000420246.2	-	4	494_495	c.362_363delCT	c.(361-363)tfs	p.S121fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S121fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S121fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S121fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	65	9	0	146	121	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.S121fs*2(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.S121F(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TGCAAGTCACAGACTTGGCTGT	0.559000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	0	1	1.000000	65	74	0	149	1	9.437029e-01	2	6	0	149	4
ARHGAP35	2909	broad.mit.edu	37	19	47423882	47423882	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr19:47423882delT	ENST00000404338.3	+	1	1950	c.1950delT	c.(1948-1950)tcfs	p.S650fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	48	56	0	92	650					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										CTGTGAACTCTTTCCAGACGC	0.438000													1	1	1	1	0	1	1.000000	48	105	0	93	0	3.771260e-01	1	3	0	93	4
ZNF831	128611	broad.mit.edu	37	20	57769139	57769140	+	Frame_Shift_Ins	INS	-	-	G	rs55786258	by1000genomes	TCGA-N8-A4PM-01A-11D-A28R-08	TCGA-N8-A4PM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f45fce6a-f718-486c-8e24-57f062f20b37	1e5842cc-eef6-4cf3-b869-b7dacdba7d92	g.chr20:57769139_57769140insG	ENST00000371030.2	+	1	3065_3066	c.3065_3066insG	c.(3064-3066)tggfs	p.W1022fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	8	25	0	41	1022						intracellular	nucleic acid binding|zinc ion binding	p.D1025fs*9(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGCACAGTTGGGGGGGGACA	0.678000													1	1	1	1	0	1	0.991652	8	36	0	42							4
HMGCL	3155	broad.mit.edu	37	1	24147025	24147025	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:24147025G>C	ENST00000374483.4	-	3	715	c.44C>G	c.(43-45)cCc>cGc	p.P15R	HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000374490.3_Missense_Mutation_p.P40R|HMGCL_ENST00000436439.2_Missense_Mutation_p.P40R			P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	18	46	0	79	40					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		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;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		TCCATCTCGGGGACCAACTTC	0.393000													1	1	1	1	1	1	0.999999	21	51	0	94	1	9.997716e-01	12	27	0	94	5
RHD	6007	broad.mit.edu	37	1	25627530	25627530	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:25627530G>A	ENST00000328664.4	+	4	735	c.580G>A	c.(580-582)Gga>Aga	p.G194R	RHD_ENST00000342055.5_Missense_Mutation_p.G194R|RHD_ENST00000417538.2_Missense_Mutation_p.G194R|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000423810.2_Missense_Mutation_p.G194R|RHD_ENST00000454452.2_Missense_Mutation_p.G194R|RHD_ENST00000357542.4_Missense_Mutation_p.G194R|RHD_ENST00000568195.1_Missense_Mutation_p.G194R	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN	Rh blood group, D antigen	48	46	0	67	194						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		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)		TCTACCCGAGGGAACGGAGGA	0.532000													1	1	1	1	1	1	1.000000	49	46	0	71	0	0	0	0	0	71	5
MRPL37	51253	broad.mit.edu	37	1	54681910	54681910	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:54681910G>A	ENST00000605337.1	+	6	1135	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	MRPL37_ENST00000336230.6_Missense_Mutation_p.D232N|MRPL37_ENST00000360840.5_Missense_Mutation_p.D363N			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	30	49	0	98	363					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GAATACCACAGACCTGGACTG	0.512000													1	1	1	1	0	1	1.000000	34	55	0	104	1	1	83	129	0	104	4
SPTA1	6708	broad.mit.edu	37	1	158621165	158621165	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:158621165T>A	ENST00000368148.3	-	24	3649	c.3469A>T	c.(3469-3471)Atc>Ttc	p.I1157F	SPTA1_ENST00000368147.3_Missense_Mutation_p.I1157F	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	87	134	1	157	1157					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			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACCTGCCGGATTTGAGCTCCT	0.453000													1	0	1	1	1	1	1.000000	95	147	1	177	0	0	0	0	1	177	4
USH2A	7399	broad.mit.edu	37	1	216390848	216390848	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:216390848G>A	ENST00000366943.2	-	15	3424	c.3038C>T	c.(3037-3039)aCc>aTc	p.T1013I	USH2A_ENST00000307340.3_Missense_Mutation_p.T1013I|USH2A_ENST00000366942.3_Missense_Mutation_p.T1013I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	26	26	0	52	1013	Laminin EGF-like 10.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAGTGACAGGTTTCATTCAA	0.398000										HNSCC(13;0.011)			1	1	1	1	1	1	1.000000	28	27	0	56	0	0	0	0	0	56	5
RYR2	6262	broad.mit.edu	37	1	237886488	237886488	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:237886488G>T	ENST00000366574.2	+	74	10932	c.10615G>T	c.(10615-10617)Gat>Tat	p.D3539Y	RYR2_ENST00000542537.1_Missense_Mutation_p.D3523Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D3537Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	31	98	0	122	3539					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			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	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)			AAACAGGACTGATGATACCTC	0.398000													1	0	1	1	1	1	1.000000	34	104	0	132	1	9.682882e-01	10	10	0	132	4
DCTN1	1639	broad.mit.edu	37	2	74604816	74604816	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:74604816G>A	ENST00000361874.3	-	3	634	c.317C>T	c.(316-318)cCa>cTa	p.P106L	DCTN1_ENST00000394003.3_Missense_Mutation_p.P106L|DCTN1_ENST00000409240.1_Missense_Mutation_p.P89L|DCTN1_ENST00000409868.1_Missense_Mutation_p.P89L|DCTN1_ENST00000409567.3_Missense_Mutation_p.P106L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	21	100	0	132	106					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						AGGTGTCTCTGGGGAAGTAGT	0.463000													1	1	1	1	1	1	1.000000	24	109	0	152	1	9.999904e-01	11	81	0	152	5
MAP3K19	80122	broad.mit.edu	37	2	135745259	135745259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:135745259G>A	ENST00000375845.3	-	7	1213	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.Q412*|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.Q282*	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19	19	72	0	86																		TGGGTTTCTTGGAACTTGCTT	0.343000													1	1	1	1	1	1	0.999998	20	76	0	91	0	0	0	0	0	91	5
COL3A1	1281	broad.mit.edu	37	2	189854844	189854844	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:189854844G>A	ENST00000304636.3	+	9	883	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.R238Q	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	13	29	0	56	238	Triple-helical region.				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			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGACCCGGACGACCTGGAGAG	0.388000													1	1	1	1	1	1	0.999794	13	32	0	68	1	1	1280	2604	0	68	5
MAP2	4133	broad.mit.edu	37	2	210557510	210557510	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr2:210557510A>C	ENST00000360351.4	+	7	1122	c.616A>C	c.(616-618)Act>Cct	p.T206P	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.T202P|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	20	39	0	86	206					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			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		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)	GACAACTAAAACTTACCCTGA	0.458000													1	1	1	1	1	1	1.000000	23	40	0	90	1	4.696182e-01	3	1	0	90	5
ARPP21	10777	broad.mit.edu	37	3	35729358	35729358	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:35729358T>C	ENST00000187397.4	+	6	845	c.389T>C	c.(388-390)aTc>aCc	p.I130T	ARPP21_ENST00000444190.1_Missense_Mutation_p.I130T|ARPP21_ENST00000458225.1_Missense_Mutation_p.I130T|ARPP21_ENST00000417925.1_Missense_Mutation_p.I130T|ARPP21_ENST00000337271.5_Missense_Mutation_p.I130T	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	69	99	0	143	130						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAACCCAAGATCAGAATGTTA	0.338000													1	0	1	1	1	1	1.000000	72	109	0	161	1	1	121	120	0	161	4
PLCD1	5333	broad.mit.edu	37	3	38050773	38050773	+	Silent	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:38050773G>A	ENST00000463876.1	-	10	2012	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L	PLCD1_ENST00000334661.4_Silent_p.L532L	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	27	126	0	127	532	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			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CTGATTCTTGGAGCAGTCGAA	0.612000													1	1	1	1	1	1	1.000000	30	142	0	145	1	9.892961e-01	9	28	0	145	5
ARHGEF3	50650	broad.mit.edu	37	3	56779411	56779411	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:56779411T>C	ENST00000413728.2	-	7	1253	c.710A>G	c.(709-711)gAt>gGt	p.D237G	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.D237G|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.D202G|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.D263G|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.D231G|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.D231G	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	131	313	0	204	231	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			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GACTCGGTGATCTTGCTTTTT	0.483000													1	1	1	1	1	1	1.000000	147	340	0	228	1	9.999963e-01	13	32	0	228	5
SPATA16	83893	broad.mit.edu	37	3	172835309	172835309	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:172835309T>A	ENST00000351008.3	-	2	396	c.213A>T	c.(211-213)gaA>gaT	p.E71D		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	29	210	0	201	71					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGCTTTGTTTTTCTTTGATGC	0.368000													1	1	1	1	1	1	1.000000	30	219	0	209	0	0	0	0	0	209	5
LRRC15	131578	broad.mit.edu	37	3	194081584	194081584	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr3:194081584C>T	ENST00000347624.3	-	2	274	c.189G>A	c.(187-189)acG>acA	p.T63T	LRRC15_ENST00000439944.2_Silent_p.T69T|LRRC15_ENST00000428839.1_Silent_p.T69T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	27	60	0	38	63						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	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;4.94e-05)		CAGTGATGTGCGTGTTGAGGA	0.612000													1	1	1	1	1	1	1.000000	29	61	0	41	0	0	0	0	0	41	5
OTOP1	133060	broad.mit.edu	37	4	4204203	4204203	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:4204203G>C	ENST00000296358.4	-	4	726	c.702C>G	c.(700-702)atC>atG	p.I234M		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	29	78	0	107	234					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AACCCAGAGTGATGAGCCGTT	0.517000													1	1	1	1	1	1	1.000000	29	86	0	116	0	0	0	0	0	116	5
HELQ	113510	broad.mit.edu	37	4	84348767	84348767	+	Silent	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:84348767G>A	ENST00000295488.3	-	13	2787	c.2625C>T	c.(2623-2625)ccC>ccT	p.P875P	HELQ_ENST00000510985.1_Silent_p.P808P	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	59	40	0	104	875							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CCAGATCATAGGGGGTTGTTA	0.373000								Other identified genes with known or suspected DNA repair function					1	1	1	1	1	1	1.000000	65	44	0	118	0	9.038993e-01	1	4	0	118	5
ANXA5	308	broad.mit.edu	37	4	122590823	122590823	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:122590823A>C	ENST00000296511.5	-	12	1122	c.837T>G	c.(835-837)atT>atG	p.I279M	ANXA5_ENST00000515017.1_Missense_Mutation_p.I179M|ANXA5_ENST00000501272.2_Missense_Mutation_p.I219M	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	24	52	0	89	279				I -> T (in Ref. 13; AAH18671).	anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TAAACAGATCAATCTCACTCC	0.358000													1	1	1	1	1	1	1.000000	25	53	0	93	1	1	253	464	0	93	5
ANKRD50	57182	broad.mit.edu	37	4	125591785	125591785	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:125591785G>T	ENST00000504087.1	-	4	3684	c.2647C>A	c.(2647-2649)Cct>Act	p.P883T	ANKRD50_ENST00000515641.1_Missense_Mutation_p.P704T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	24	90	0	110	883										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AATATGAAAGGGATTCGTCCA	0.373000													1	1	1	1	1	1	1.000000	24	92	0	115	1	9.989719e-01	3	43	0	115	5
NR3C2	0	broad.mit.edu	37	4	149356963	149356963	+	Silent	SNP	A	A	G			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:149356963A>G	ENST00000355292.3	-	2	1412	c.1050T>C	c.(1048-1050)gcT>gcC	p.A350A	NR3C2_ENST00000511528.1_Silent_p.A350A|NR3C2_ENST00000512865.1_Silent_p.A350A|NR3C2_ENST00000344721.4_Silent_p.A350A|NR3C2_ENST00000342437.4_Silent_p.A350A|NR3C2_ENST00000358102.3_Silent_p.A350A			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	25	67	0	95	350	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			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TACTGGATCCAGCAGAGGTGC	0.522000													1	1	1	1	1	1	1.000000	25	73	0	99	0	6.950495e-02	1	1	0	99	5
FBXW7	0	broad.mit.edu	37	4	153250867	153250867	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr4:153250867G>A	ENST00000281708.4	-	8	2422	c.1193C>T	c.(1192-1194)tCt>tTt	p.S398F	FBXW7_ENST00000263981.5_Missense_Mutation_p.S318F|FBXW7_ENST00000296555.5_Missense_Mutation_p.S280F|FBXW7_ENST00000603841.1_Missense_Mutation_p.S398F|FBXW7_ENST00000603548.1_Missense_Mutation_p.S398F|FBXW7_ENST00000393956.3_Missense_Mutation_p.S222F	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	59	28	0	69	398					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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTTGTCATCAGAACCACTAAC	0.358000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	69	30	0	81	1	9.999994e-01	7	9	0	81	5
COL11A2	1302	broad.mit.edu	37	6	33135298	33135298	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr6:33135298C>T	ENST00000341947.2	-	56	4254	c.4027G>A	c.(4027-4029)Gct>Act	p.A1343T	COL11A2_ENST00000374714.1_Missense_Mutation_p.A1317T|COL11A2_ENST00000361917.1_Missense_Mutation_p.A1236T|COL11A2_ENST00000374713.1_Missense_Mutation_p.A1296T|COL11A2_ENST00000357486.1_Missense_Mutation_p.A1322T|COL11A2_ENST00000374712.1_Missense_Mutation_p.A1262T|COL11A2_ENST00000395197.1_Missense_Mutation_p.A1283T|COL11A2_ENST00000374708.4_Missense_Mutation_p.A1257T|COL11A2_ENST00000477772.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	20	25	0	35	1343	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			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GCACCTATAGCGCCAGGATCT	0.652000													1	1	1	1	1	1	1.000000	21	30	0	43	1	1	32	28	0	43	5
PGM3	5238	broad.mit.edu	37	6	83896756	83896756	+	Missense_Mutation	SNP	C	C	T	rs80024877		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr6:83896756C>T	ENST00000513973.1	-	4	544	c.428G>A	c.(427-429)gGt>gAt	p.G143D	PGM3_ENST00000283977.4_Missense_Mutation_p.G62D|PGM3_ENST00000506587.1_Missense_Mutation_p.G171D|PGM3_ENST00000512866.1_Missense_Mutation_p.G143D	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	10	13	0	74	143					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AACAGTCACACCATCTATTAC	0.343000													1	1	1	1	1	1	0.999379	11	17	0	89	1	9.999836e-01	19	28	0	89	5
MLLT4	4301	broad.mit.edu	37	6	168344722	168344722	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr6:168344722C>G	ENST00000366806.2	+	26	3462	c.3320C>G	c.(3319-3321)tCc>tGc	p.S1107C	MLLT4_ENST00000392112.1_Missense_Mutation_p.S1090C|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000351017.4_Missense_Mutation_p.S1114C|MLLT4_ENST00000447894.2_Missense_Mutation_p.S1107C|MLLT4_ENST00000344191.4_Missense_Mutation_p.S1107C|MLLT4_ENST00000392108.3_Missense_Mutation_p.S1107C|MLLT4_ENST00000400822.3_Missense_Mutation_p.S1106C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	14	52	0	53	1107					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		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)		AATCAGCCATCCCCCATGATG	0.517000			T	MLL	AL								1	1	1	1	1	1	0.999862	14	55	0	57	1	9.996233e-01	17	43	0	57	5
MCM4	4173	broad.mit.edu	37	8	48873764	48873764	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr8:48873764C>T	ENST00000262105.2	+	1	269	c.60C>T	c.(58-60)ccC>ccT	p.P20P	MCM4_ENST00000523944.1_Silent_p.P20P	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	5	0	0	12	20					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			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				GGGCCACCCCCGCCCAGACGC	0.771000													1	1	1	1	0	1	0.998601	7	0	0	14	1	1	30	31	0	14	4
TRPM6	140803	broad.mit.edu	37	9	77407599	77407599	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr9:77407599A>C	ENST00000451710.3	-	19	2716	c.2479T>G	c.(2479-2481)Tgg>Ggg	p.W827G	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.W822G|TRPM6_ENST00000449912.2_Missense_Mutation_p.W822G|TRPM6_ENST00000360774.1_Missense_Mutation_p.W827G|TRPM6_ENST00000376864.4_Missense_Mutation_p.W827G			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	20	24	0	70	827					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCCTGGTCCACGGAAGGTGT	0.388000													1	1	1	1	1	1	1.000000	20	25	0	77	0	0	0	0	0	77	5
NET1	10276	broad.mit.edu	37	10	5471142	5471142	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:5471142C>G	ENST00000355029.4	+	3	347	c.205C>G	c.(205-207)Cgc>Ggc	p.R69G	NET1_ENST00000542715.1_5'UTR	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	6	113	0	93	69	Necessary for nuclear localization (By similarity).				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	p.R69C(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						GAAAAGAAAACGCAGAGAGAA	0.323000													1	1	1	1	0	1	0.981537	7	125	0	114	1	8.557874e-01	2	63	0	114	4
CUBN	8029	broad.mit.edu	37	10	17130272	17130272	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:17130272C>T	ENST00000377833.4	-	15	1903	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	6	56	0	53	613	CUB 2.				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			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAATCTCTTCCTGGGGGATA	0.443000													1	1	1	1	0	1	0.967300	6	62	0	58	0	1.126761e-02	0	2	0	58	4
CHST3	9469	broad.mit.edu	37	10	73767358	73767358	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:73767358A>T	ENST00000373115.4	+	3	1006	c.569A>T	c.(568-570)gAc>gTc	p.D190V		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	5	26	0	27	190					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						GTGTACCGCGACGTGCTCAAG	0.652000													1	0	1	1	1	1	0.943142	5	26	0	31	1	9.596589e-01	8	27	0	31	4
TCF7L2	6934	broad.mit.edu	37	10	114919686	114919686	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr10:114919686C>T	ENST00000355995.4	+	14	1884	c.1377C>T	c.(1375-1377)agC>agT	p.S459S	TCF7L2_ENST00000538897.1_Intron|TCF7L2_ENST00000536810.1_Silent_p.S442S|TCF7L2_ENST00000466338.1_Intron|TCF7L2_ENST00000352065.5_Silent_p.S436S|TCF7L2_ENST00000369389.1_Intron|TCF7L2_ENST00000542695.1_Silent_p.S175S|TCF7L2_ENST00000355717.4_Intron|TCF7L2_ENST00000369397.4_Silent_p.S436S|TCF7L2_ENST00000534894.1_Silent_p.S459S|TCF7L2_ENST00000543371.1_Intron|TCF7L2_ENST00000369386.1_Silent_p.S85S|TCF7L2_ENST00000545257.1_Intron			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	23	21	0	33	459	Promoter-specific activation domain.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CAGACCTGAGCGCTCCTAAGA	0.542000			T	VTI1A	colorectal								1	1	1	1	1	1	1.000000	26	22	0	39	1	1	34	19	0	39	5
OR5AS1	219447	broad.mit.edu	37	11	55798810	55798810	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr11:55798810G>T	ENST00000313555.1	+	1	916	c.916G>T	c.(916-918)Gaa>Taa	p.E306*		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	12	45	0	57	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AAAGCTATTAGAAAGAATTGG	0.308000													1	1	1	1	1	1	0.999455	12	47	0	57	0	0	0	0	0	57	5
SHANK2	22941	broad.mit.edu	37	11	70505948	70505948	+	Silent	SNP	C	C	G			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr11:70505948C>G	ENST00000338508.4	-	23	2048	c.2049G>C	c.(2047-2049)ggG>ggC	p.G683G	SHANK2_ENST00000357171.3_Silent_p.G94G|SHANK2_ENST00000423696.2_Silent_p.G303G|SHANK2_ENST00000409161.1_Silent_p.G93G|SHANK2_ENST00000449833.2_Silent_p.G94G|SHANK2_ENST00000449116.2_Silent_p.G94G|SHANK2_ENST00000409530.1_Silent_p.G93G			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	16	83	0	52	303					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCAAGAAGTCCCCGGTCCTTA	0.587000													1	1	1	1	1	1	0.999957	16	91	0	62	0	6.782679e-02	0	3	0	62	5
ADAMTS8	11095	broad.mit.edu	37	11	130289058	130289058	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr11:130289058C>T	ENST00000257359.6	-	2	1556	c.850G>A	c.(850-852)Gac>Aac	p.D284N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	63	336	0	301	284	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)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	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)		CCCCCATTGTCGGACACCTCT	0.552000													1	1	1	1	1	1	1.000000	67	374	0	340	1	9.999998e-01	31	98	0	340	5
LRRK2	120892	broad.mit.edu	37	12	40760879	40760879	+	Splice_Site	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr12:40760879G>A	ENST00000298910.7	+	50	7520	c.7462_splice	c.e50+1	p.E2488_splice		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	18	32	0	41	2488					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			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAGCAGAAAGGTAACATTTA	0.318000													1	1	1	1	1	1	1.000000	24	34	0	49	1	9.512420e-01	2	8	0	49	5
PUS7L	83448	broad.mit.edu	37	12	44124455	44124455	+	Silent	SNP	T	T	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr12:44124455T>C	ENST00000416848.2	-	9	2318	c.1830A>G	c.(1828-1830)gtA>gtG	p.V610V	PUS7L_ENST00000431332.3_Silent_p.V297V|PUS7L_ENST00000344862.5_Silent_p.V610V|PUS7L_ENST00000551923.1_Silent_p.V610V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	30	33	0	64	610	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ACCACTGCCCTACTTTGTTCT	0.383000													1	1	1	1	1	1	1.000000	35	39	0	77	1	9.999982e-01	17	15	0	77	5
APAF1	317	broad.mit.edu	37	12	99106175	99106175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr12:99106175C>T	ENST00000357310.1	+	20	3368	c.2791C>T	c.(2791-2793)Cag>Tag	p.Q931*	APAF1_ENST00000549007.1_Nonsense_Mutation_p.Q931*|APAF1_ENST00000551964.1_Nonsense_Mutation_p.Q974*|APAF1_ENST00000359972.2_Nonsense_Mutation_p.Q920*|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Nonsense_Mutation_p.Q931*|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Nonsense_Mutation_p.Q931*|APAF1_ENST00000550527.1_Nonsense_Mutation_p.Q963*	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	16	14	0	40	974					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			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCCACATCTTCAGTACATTGC	0.348000													1	1	1	1	1	1	0.999999	18	14	0	51	1	9.998720e-01	4	15	0	51	5
SLC10A2	6555	broad.mit.edu	37	13	103698525	103698525	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr13:103698525C>T	ENST00000245312.3	-	6	1601	c.1005G>A	c.(1003-1005)tcG>tcA	p.S335S		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	24	30	0	79	335					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCTTATAAAACGATGACTCTG	0.368000													1	1	1	1	1	1	1.000000	27	32	0	89	0	0	0	0	0	89	5
CYP1A1	1543	broad.mit.edu	37	15	75014760	75014760	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr15:75014760C>T	ENST00000379727.3	-	2	877	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	CYP1A1_ENST00000564596.1_De_novo_Start_InFrame|CYP1A1_ENST00000567032.1_Missense_Mutation_p.V227M|CYP1A1_ENST00000395049.4_Missense_Mutation_p.V227M|CYP1A1_ENST00000395048.2_Missense_Mutation_p.V227M			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	20	119	0	93	227					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			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					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)	GAGCCAACCACCTCCCCGAAA	0.493000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				1	1	1	1	1	1	0.999999	22	126	0	109	0	0	0	1	0	109	5
EEF2K	29904	broad.mit.edu	37	16	22278135	22278135	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr16:22278135G>A	ENST00000263026.5	+	15	2176	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	18	64	0	75	568					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			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		GGAGGCCATCGTGGGCCTGGG	0.652000													1	1	1	1	1	1	0.999998	20	68	0	88	1	9.986774e-01	11	30	0	88	5
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr17:7578271T>C	ENST00000420246.2	-	6	710	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_Missense_Mutation_p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	41	7	0	42	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TCGGATAAGATGCTGAGGAGG	0.562000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	49	7	0	45	1	1	155	5	0	45	5
CLUL1	27098	broad.mit.edu	37	18	641365	641365	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr18:641365G>A	ENST00000581619.1	+	7	1955	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	CLUL1_ENST00000579494.1_Missense_Mutation_p.E345K|CLUL1_ENST00000338387.7_Missense_Mutation_p.E345K|CLUL1_ENST00000400606.2_Missense_Mutation_p.E345K|CLUL1_ENST00000540035.1_Missense_Mutation_p.E397K|C18orf56_ENST00000585033.1_3'UTR			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	28	30	0	81	345					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						AGAATTAGACGAGGCGATCAG	0.488000													1	0	1	1	0	1	1.000000	28	30	0	91	1	9.968202e-01	9	5	0	91	3
TCEB3C	162699	broad.mit.edu	37	18	44555262	44555262	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr18:44555262C>T	ENST00000330682.2	-	1	1187	c.952G>A	c.(952-954)Gct>Act	p.A318T	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	35	328	0	828	318	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGCATCTTAGCGTTCACTCTG	0.652000													1	0	1	1	0	1	1.000000	38	364	0	553	1	1.424141e-01	7	0	0	553	3
PHLPP1	23239	broad.mit.edu	37	18	60609112	60609112	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr18:60609112T>A	ENST00000400316.4	+	11	3367	c.1586T>A	c.(1585-1587)cTt>cAt	p.L529H	PHLPP1_ENST00000262719.5_Missense_Mutation_p.L1041H	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	20	18	1	47	1041					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TTGAAGATCCTTCACATGGCC	0.408000													1	0	1	1	1	1	0.999994	23	22	1	55	1	9.747373e-01	2	7	1	55	4
MUC16	94025	broad.mit.edu	37	19	9012504	9012504	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr19:9012504C>A	ENST00000397910.4	-	35	38905	c.38702G>T	c.(38701-38703)gGc>gTc	p.G12901V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	40	106	0	162	12903	SEA 6.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTACAGAAGGCCGACACTGGT	0.537000													1	1	1	1	1	1	1.000000	42	123	0	195	0	0	0	0	0	195	5
ACTN4	81	broad.mit.edu	37	19	39198795	39198795	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr19:39198795G>A	ENST00000252699.2	+	6	687	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	42	93	1	77	204	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			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGATCCACCGGCACAGACCA	0.567000													1	0	1	1	1	1	1.000000	50	103	1	84	1	1	147	150	1	84	4
PPP2R1A	5518	broad.mit.edu	37	19	52715982	52715982	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr19:52715982C>T	ENST00000322088.6	+	5	605	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4W|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128W	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	32	68	1	87	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen 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	p.R183W(22)|p.R183G(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CATGGTGCGGCGGGCCGCAGC	0.617000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	1.000000	33	79	1	91	1	1	161	434	1	91	5
NKAIN4	128414	broad.mit.edu	37	20	61875393	61875393	+	Missense_Mutation	SNP	G	G	A	rs141841184		TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr20:61875393G>A	ENST00000370316.3	-	5	604	c.515C>T	c.(514-516)aCg>aTg	p.T172M	NKAIN4_ENST00000466885.1_5'UTR|NKAIN4_ENST00000370307.2_Missense_Mutation_p.T110M|NKAIN4_ENST00000370313.1_Missense_Mutation_p.T110M	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	4	45	0	20	172						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					CTCTTCCTCCGTAAACACGCT	0.637000													0	0	1	0	0	1	0.892832	4	52	0	22	1	9.999962e-01	137	751	0	22	1
MCHR1	0	broad.mit.edu	37	22	41077056	41077056	+	Silent	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr22:41077056C>T	ENST00000249016.4	+	2	1089	c.393C>T	c.(391-393)atC>atT	p.I131I	MCHR1_ENST00000381433.2_Silent_p.I131I|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	21	58	1	64	131					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			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CCACGGTCATCTTCGCGGTCG	0.557000													1	0	1	1	1	1	0.999683	21	62	1	69	0	3.853303e-01	1	4	1	69	4
KDM6A	7403	broad.mit.edu	37	X	44922731	44922731	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chrX:44922731C>T	ENST00000377967.4	+	16	1633	c.1592C>T	c.(1591-1593)tCa>tTa	p.S531L	KDM6A_ENST00000543216.1_Missense_Mutation_p.S452L|KDM6A_ENST00000382899.4_Missense_Mutation_p.S538L|KDM6A_ENST00000536777.1_Missense_Mutation_p.S486L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	29	32	0	94	531					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?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACAGCTGACTCATCACTGCCT	0.522000			D, N, F, S		renal, oesophageal SCC, MM								1	1	1	1	1	1	1.000000	31	33	0	106	1	9.999999e-01	22	19	0	106	5
DNM3	26052	broad.mit.edu	37	1	171958171	171958172	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr1:171958171_171958172insA	ENST00000358155.4	+	4	648_649	c.472_473insA	c.(472-474)aatfs	p.N158fs	DNM3_ENST00000355305.5_Frame_Shift_Ins_p.N158fs|DNM3_ENST00000520906.1_Frame_Shift_Ins_p.N158fs|DNM3_ENST00000367733.2_Frame_Shift_Ins_p.N158fs|DNM3_ENST00000367731.1_Frame_Shift_Ins_p.N158fs	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	22	19	0	25	158					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCAGATCAGAGAAATGATTATG	0.426000													1	1	1	1	0	1	1.000000	22	41	0	25	0	7.589326e-01	1	6	0	25	4
PIK3R1	5295	broad.mit.edu	37	5	67589585	67589586	+	In_Frame_Ins	INS	-	-	ATG			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08			-	ATG	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr5:67589585_67589586insATG	ENST00000521381.1	+	11	1964_1965	c.1348_1349insATG	c.(1348-1350)tga>ATGtga	p.449_450insM	PIK3R1_ENST00000521657.1_In_Frame_Ins_p.449_450insM|PIK3R1_ENST00000523872.1_In_Frame_Ins_p.86_87insM|PIK3R1_ENST00000336483.5_In_Frame_Ins_p.179_180insM|PIK3R1_ENST00000274335.5_In_Frame_Ins_p.449_450insM|PIK3R1_ENST00000396611.1_In_Frame_Ins_p.449_450insM|PIK3R1_ENST00000320694.8_In_Frame_Ins_p.149_150insM	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	19	23	0	42	449					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.H450_E451del(2)|p.G446_Y452>VI(1)|p.0?(1)|p.?(1)|p.E451_Y452delEY(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		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)	GAAAAAATTACATGAATATAAC	0.282000			Mis, F, O		gliobastoma, ovarian, colorectal					TCGA GBM(4;<1E-08)			1	1	1	1	0	1	0.999997	19	44	0	42	1	9.999995e-01	14	59	0	42	4
ANKRD18A	253650	broad.mit.edu	37	9	38615615	38615618	+	Frame_Shift_Del	DEL	ATGG	ATGG	-			TCGA-N8-A4PN-01A-11D-A28R-08	TCGA-N8-A4PN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c6bebb-add9-4a40-96bc-5063289d5e64	4e82a82d-6ec4-4b31-9bfc-1d86f4436235	g.chr9:38615615_38615618delATGG	ENST00000399703.5	-	3	842_845	c.468_471delCCAT	c.(466-471)cafs	p.HH156fs		NM_147195.2	NP_671728.2	Q8IVF6	AN18A_HUMAN	ankyrin repeat domain 18A	7	6	0	18	156										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	16						CAATATTTGCATGGTGGGAAAGCA	0.373000													0	0	1	1	0	1	0.987544	7	13	0	19	0	6.439294e-15	0	1	0	19	2
CHD5	26038	broad.mit.edu	37	1	6209463	6209463	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:6209463C>G	ENST00000262450.3	-	8	1103	c.1004G>C	c.(1003-1005)gGt>gCt	p.G335A	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	15	21	0	56	335					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	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)		ATAGCCGTCACCATCATCAAC	0.582000													1	1	1	1	1	1	0.999999	19	21	0	71	0	0	0	0	0	71	5
THEMIS2	9473	broad.mit.edu	37	1	28209315	28209315	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:28209315C>T	ENST00000373921.3	+	4	1484	c.1480C>T	c.(1480-1482)Cct>Tct	p.P494S	THEMIS2_ENST00000328928.7_Missense_Mutation_p.P365S|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2	30	59	0	123																		AGACTCTGAGCCTGGGATGTG	0.617000													1	1	1	1	1	1	1.000000	41	66	0	138	1	9.924530e-01	2	14	0	138	5
ITGA10	8515	broad.mit.edu	37	1	145538291	145538291	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:145538291C>T	ENST00000369304.3	+	23	2993	c.2818C>T	c.(2818-2820)Cac>Tac	p.H940Y	ITGA10_ENST00000538811.1_Missense_Mutation_p.H809Y|ITGA10_ENST00000539363.1_Missense_Mutation_p.H797Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	47	122	0	128	940					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATATGAGCCCCACCTCCTGTT	0.552000													1	1	1	1	1	1	1.000000	49	133	0	138	0	4.124730e-01	1	4	0	138	5
ARHGEF2	9181	broad.mit.edu	37	1	155920676	155920676	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:155920676G>A	ENST00000368316.1	-	24	3033	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R883W|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R855W|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R884W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R882W			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	36	151	0	70	883					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			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTGCGCCGCCGAGGATCCACA	0.677000													1	1	1	1	1	1	1.000000	40	167	0	77	1	1	35	193	0	77	5
LRRN2	10446	broad.mit.edu	37	1	204588892	204588892	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr1:204588892G>A	ENST00000367175.1	-	1	2441	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	LRRN2_ENST00000367177.3_Nonsense_Mutation_p.Q77*|LRRN2_ENST00000367176.3_Nonsense_Mutation_p.Q77*			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	5	94	0	76	77					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	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)			CTGTTGCTCTGCAGGAGCAGG	0.617000													1	0	1	1	0	1	0.966472	6	96	0	80	1	8.521903e-01	4	54	0	80	3
C2orf16	84226	broad.mit.edu	37	2	27803080	27803080	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:27803080C>T	ENST00000408964.2	+	1	3692	c.3641C>T	c.(3640-3642)aCa>aTa	p.T1214I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	34	67	0	123	1214										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCTACTTCCACAATAGATTTG	0.463000													1	1	1	1	1	1	1.000000	35	71	0	134	0	0	0	1	0	134	5
ALK	238	broad.mit.edu	37	2	29450452	29450452	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:29450452G>A	ENST00000389048.3	-	17	3808	c.2902C>T	c.(2902-2904)Cca>Tca	p.P968S	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	17	113	0	120	968					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTTAAAGCTGGGGTGTACAGG	0.517000			T, Mis, A	NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22	ALCL, NSCLC, Neuroblastoma	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				1	1	1	1	1	1	0.999999	21	120	0	139	0	0	0	1	0	139	5
PROM2	150696	broad.mit.edu	37	2	95954317	95954317	+	Silent	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:95954317T>C	ENST00000317620.9	+	22	2554	c.2421T>C	c.(2419-2421)cgT>cgC	p.R807R	PROM2_ENST00000403131.2_Silent_p.R807R|PROM2_ENST00000542147.1_Silent_p.R758R|PROM2_ENST00000317668.4_Silent_p.R807R	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	6	127	0	66	807						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AATACTTCCGTCCTATCCGGA	0.602000													0	0	1	0	0	1	0.965993	6	138	0	71	1	7.803465e-01	5	62	0	71	1
ANKAR	150709	broad.mit.edu	37	2	190606164	190606164	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr2:190606164C>T	ENST00000520309.1	+	20	3885	c.3797C>T	c.(3796-3798)tCg>tTg	p.S1266L	ANKAR_ENST00000313581.4_Missense_Mutation_p.S1266L|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.S1195L|ANKAR_ENST00000438402.2_3'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	38	18	0	54	1266						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CATTTGTACTCGGGAATAGAA	0.358000													1	1	1	1	1	1	1.000000	42	19	0	62	0	4.692460e-01	1	1	0	62	5
FBLN2	2199	broad.mit.edu	37	3	13612329	13612329	+	Silent	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:13612329G>T	ENST00000404922.3	+	2	593	c.474G>T	c.(472-474)cgG>cgT	p.R158R	FBLN2_ENST00000535798.1_Silent_p.R184R|FBLN2_ENST00000492059.1_Silent_p.R158R|FBLN2_ENST00000295760.7_Silent_p.R158R	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	11	27	0	20	158	N.|Subdomain NA (Cys-rich).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CGCCCTGCCGGGCCTGCCACT	0.687000													1	1	1	1	1	1	0.999566	12	30	0	20	1	9.999999e-01	4	112	0	20	5
ATP13A4	84239	broad.mit.edu	37	3	193188759	193188759	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr3:193188759G>T	ENST00000342695.4	-	9	1154	c.832C>A	c.(832-834)Cgc>Agc	p.R278S	ATP13A4_ENST00000392443.3_Missense_Mutation_p.R278S|ATP13A4_ENST00000295548.3_Missense_Mutation_p.R278S	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	29	220	0	187	278					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	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)		ACCAGGACGCGTGATTCCAGC	0.443000													1	1	1	1	1	1	1.000000	32	246	0	228	0	0	0	1	0	228	5
NR3C2	0	broad.mit.edu	37	4	149357868	149357868	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr4:149357868T>C	ENST00000355292.3	-	2	507	c.145A>G	c.(145-147)Agc>Ggc	p.S49G	NR3C2_ENST00000342437.4_Missense_Mutation_p.S49G|NR3C2_ENST00000344721.4_Missense_Mutation_p.S49G|NR3C2_ENST00000511528.1_Missense_Mutation_p.S49G|NR3C2_ENST00000512865.1_Missense_Mutation_p.S49G|NR3C2_ENST00000358102.3_Missense_Mutation_p.S49G			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	19	44	0	100	49	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			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GAAACACAGCTTACGTTGACA	0.483000													1	1	1	1	1	1	1.000000	23	50	0	113	0	5.088729e-01	1	4	0	113	5
TRIO	7204	broad.mit.edu	37	5	14487604	14487604	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:14487604C>G	ENST00000344204.4	+	48	6891	c.6867C>G	c.(6865-6867)aaC>aaG	p.N2289K	TRIO_ENST00000537187.1_Missense_Mutation_p.N2289K	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	4	36	0	17	2289					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			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACCAGAGGAACCACAgcgggg	0.746000													0	0	1	0	0	1	0.893699	4	37	0	19	1	6.144379e-01	4	15	0	19	1
MROH2B	133558	broad.mit.edu	37	5	40998212	40998212	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:40998212G>C	ENST00000399564.4	-	42	5150	c.4700C>G	c.(4699-4701)gCt>gGt	p.A1567G	MROH2B_ENST00000506092.2_Missense_Mutation_p.A1122G	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B	35	224	0	212																		AGCAGCCTCAGCTGCTCTCTG	0.468000													1	1	1	1	1	1	1.000000	36	258	0	243	0	0	0	0	0	243	5
SLCO4C1	353189	broad.mit.edu	37	5	101576467	101576467	+	Silent	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:101576467G>T	ENST00000310954.6	-	11	2117	c.1831C>A	c.(1831-1833)Cgg>Agg	p.R611R		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	26	30	0	107	611					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		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)		GCTAGGGACCGTTGTCTGTGA	0.338000													1	1	1	1	1	1	1.000000	33	34	0	127	0	0	0	0	0	127	5
SLC27A6	28965	broad.mit.edu	37	5	128362947	128362947	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr5:128362947C>G	ENST00000262462.4	+	7	2387	c.1377C>G	c.(1375-1377)taC>taG	p.Y459*	SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.Y459*|SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.Y459*			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	21	60	0	97	459					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			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		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)		GAGATGTTTACCTTAATACTG	0.388000													1	1	1	1	1	1	1.000000	22	66	0	103	0	6.364073e-01	0	8	0	103	5
CDYL	9425	broad.mit.edu	37	6	4892429	4892429	+	Silent	SNP	C	C	T	rs145508163		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:4892429C>T	ENST00000328908.5	+	4	800	c.669C>T	c.(667-669)gtC>gtT	p.V223V	CDYL_ENST00000397588.3_Silent_p.V169V|CDYL_ENST00000343762.5_Silent_p.V37V|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000449732.2_Silent_p.V37V			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	4	97	0	53	223					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TGGACCCCGTCGAGCAGGGTC	0.617000													0	0	1	0	0	1	0.891751	4	103	0	56	1	7.314857e-01	3	62	0	56	1
KDM1B	221656	broad.mit.edu	37	6	18215312	18215312	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:18215312G>C	ENST00000388870.2	+	20	2428	c.2187G>C	c.(2185-2187)caG>caC	p.Q729H	KDM1B_ENST00000397244.1_Missense_Mutation_p.Q497H|KDM1B_ENST00000546309.2_Missense_Mutation_p.Q19H|KDM1B_ENST00000297792.5_Missense_Mutation_p.Q496H			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	7	56	0	43	728					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			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ATGACAAACAGGTGCTGCAGC	0.577000													1	0	1	1	1	1	0.982546	7	61	0	50	1	9.021401e-01	11	28	0	50	4
KIFC1	3833	broad.mit.edu	37	6	33371611	33371611	+	Missense_Mutation	SNP	G	G	A	rs146314962		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:33371611G>A	ENST00000428849.2	+	6	911	c.461G>A	c.(460-462)cGt>cAt	p.R154H	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	14	203	0	126	154					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			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AAACGGTGCCGTGAGAGGACT	0.552000													1	1	1	1	0	1	0.999887	15	222	0	138	1	9.998215e-01	12	211	0	138	4
HCRTR2	3062	broad.mit.edu	37	6	55113469	55113469	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:55113469A>G	ENST00000370862.3	+	2	592	c.256A>G	c.(256-258)Agg>Ggg	p.R86G		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	17	125	0	83	86					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCACCACATGAGGACGGTAAC	0.448000													1	1	1	1	1	1	0.999997	20	131	0	92	0	5.300443e-02	0	3	0	92	5
ULBP2	80328	broad.mit.edu	37	6	150267593	150267593	+	Silent	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:150267593G>A	ENST00000367351.3	+	3	508	c.435G>A	c.(433-435)ggG>ggA	p.G145G		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	105	123	1	125	145	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GTTTCGATGGGCAGATCTTCC	0.507000													1	0	1	1	1	1	1.000000	113	132	0	133	0	0	0	0	0	133	4
ULBP2	80328	broad.mit.edu	37	6	150267643	150267643	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:150267643A>C	ENST00000367351.3	+	3	558	c.485A>C	c.(484-486)cAt>cCt	p.H162P		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	32	182	0	129	162	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		ACAACGGTTCATCCTGGAGCC	0.473000													1	1	1	1	1	1	1.000000	33	193	0	135	0	0	0	0	0	135	5
MAP3K4	4216	broad.mit.edu	37	6	161529829	161529829	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr6:161529829A>C	ENST00000392142.4	+	22	4322	c.4174A>C	c.(4174-4176)Aaa>Caa	p.K1392Q	MAP3K4_ENST00000366920.2_Missense_Mutation_p.K1388Q|MAP3K4_ENST00000366919.2_Missense_Mutation_p.K1342Q|MAP3K4_ENST00000348824.7_Missense_Mutation_p.K1338Q	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	82	77	0	105	1392	Protein kinase.				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			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		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)		AGACGAATTGAAAATATTCGA	0.408000													1	1	1	1	1	1	1.000000	91	90	0	130	1	1	47	56	0	130	5
EEPD1	80820	broad.mit.edu	37	7	36194058	36194058	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:36194058T>G	ENST00000242108.4	+	2	843	c.125T>G	c.(124-126)aTc>aGc	p.I42S	EEPD1_ENST00000534978.1_Missense_Mutation_p.I42S	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	80	61	0	128	42	HhH.				DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CGGCTCAACATCAACACTGCC	0.597000													1	1	1	1	1	1	1.000000	93	70	0	152	1	9.980525e-01	5	6	0	152	5
NCAPG2	54892	broad.mit.edu	37	7	158468184	158468184	+	Silent	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr7:158468184A>G	ENST00000409339.3	-	12	1424	c.1311T>C	c.(1309-1311)cgT>cgC	p.R437R	NCAPG2_ENST00000449727.2_Silent_p.R437R|NCAPG2_ENST00000275830.10_Silent_p.R229R|NCAPG2_ENST00000356309.3_Silent_p.R437R|NCAPG2_ENST00000409423.1_Silent_p.R437R			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	12	22	0	40	437					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	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)		AGACAGAACAACGAACATCAG	0.348000													1	1	1	1	1	1	0.999836	13	24	0	41	1	9.999930e-01	20	35	0	41	5
CSMD1	64478	broad.mit.edu	37	8	3216672	3216672	+	Splice_Site	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:3216672A>C	ENST00000602557.1	-	22	3863		c.e22+1		CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000539096.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000520002.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	9	29	0	83							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)		GTGACCACCTACCCACACACC	0.587000													1	1	1	1	1	1	0.995956	9	33	0	92	0	0	0	0	0	92	5
DDHD2	23259	broad.mit.edu	37	8	38095663	38095663	+	Silent	SNP	G	G	A	rs149994413	byFrequency	TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:38095663G>A	ENST00000397166.2	+	5	1083	c.558G>A	c.(556-558)acG>acA	p.T186T	DDHD2_ENST00000520272.2_Silent_p.T186T	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	20	7	0	77	186			T -> M (in dbSNP:rs2306899).		lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	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)			CAACACCCACGGAGCAGGGTC	0.408000													1	1	1	1	1	1	1.000000	21	8	0	88	1	9.968419e-01	3	5	0	88	5
PCMTD1	115294	broad.mit.edu	37	8	52773451	52773451	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:52773451C>A	ENST00000360540.5	-	3	667	c.261G>T	c.(259-261)ctG>ctT	p.L87L	PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000522514.1_Silent_p.L87L|PCMTD1_ENST00000521344.1_Silent_p.L87L|PCMTD1_ENST00000544451.1_Intron	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	28	84	0	31	87						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TTCCACTTCCCAGGTTAAGAA	0.333000													1	1	1	1	1	1	1.000000	34	91	0	35	1	9.999999e-01	28	51	0	35	5
ARMC1	55156	broad.mit.edu	37	8	66525567	66525567	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:66525567G>T	ENST00000276569.3	-	4	621	c.377C>A	c.(376-378)tCa>tAa	p.S126*	ARMC1_ENST00000458464.2_Intron	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	27	100	0	64	126					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CCTTCGACGTGAATTCATCTC	0.398000													1	1	1	1	1	1	1.000000	28	107	0	68	1	9.999934e-01	6	73	0	68	5
CPA6	57094	broad.mit.edu	37	8	68397009	68397009	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:68397009T>G	ENST00000297770.4	-	7	867	c.652A>C	c.(652-654)Aag>Cag	p.K218Q	CPA6_ENST00000518549.1_Missense_Mutation_p.K218Q|CPA6_ENST00000297769.4_Missense_Mutation_p.K70Q	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	7	87	0	41	218					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GGGTCACTCTTATATGTTAGA	0.353000													1	1	1	1	0	1	0.981812	7	98	0	47	0	0	0	0	0	47	4
SLC10A5	347051	broad.mit.edu	37	8	82606605	82606605	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:82606605C>G	ENST00000518568.1	-	1	1804	c.603G>C	c.(601-603)ttG>ttC	p.L201F		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	10	301	0	145	201						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GCGCCTCAGGCAATGCCACAA	0.478000													1	0	1	1	0	1	0.999157	12	325	0	155	0	0	0	0	0	155	3
CCNE2	9134	broad.mit.edu	37	8	95900250	95900250	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:95900250A>T	ENST00000520509.1	-	7	757	c.505T>A	c.(505-507)Ttt>Att	p.F169I	CCNE2_ENST00000308108.4_Missense_Mutation_p.F169I|CCNE2_ENST00000396133.3_Missense_Mutation_p.F169I|CCNE2_ENST00000523476.1_5'UTR			O96020	CCNE2_HUMAN	cyclin E2	58	21	0	46	169					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					CTATCAAAAAAGTCTTGTGCA	0.294000													1	1	1	1	1	1	1.000000	61	23	0	50	1	1	62	16	0	50	5
PTP4A3	11156	broad.mit.edu	37	8	142432356	142432356	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr8:142432356C>T	ENST00000520105.1	+	2	959	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	PTP4A3_ENST00000329397.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000349124.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000521578.1_Missense_Mutation_p.R6C|PTP4A3_ENST00000524028.1_Missense_Mutation_p.R6C			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	32	186	0	129	6						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	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)			TCGGATGAACCGCCCGGCCCC	0.642000													1	1	1	1	1	1	1.000000	36	215	0	156	1	1	38	297	0	156	5
TRPM6	140803	broad.mit.edu	37	9	77415320	77415320	+	Silent	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:77415320C>G	ENST00000451710.3	-	17	2325	c.2088G>C	c.(2086-2088)acG>acC	p.T696T	TRPM6_ENST00000449912.2_Silent_p.T691T|TRPM6_ENST00000376864.4_Silent_p.T696T|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.T691T|TRPM6_ENST00000360774.1_Silent_p.T696T			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	12	34	0	60	696					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGAGTTCATACGTCAACAGCG	0.512000													1	1	1	1	1	1	0.999772	13	37	0	69	0	0	0	0	0	69	5
TRIM14	9830	broad.mit.edu	37	9	100862412	100862412	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:100862412C>T	ENST00000341469.2	-	3	347	c.338G>A	c.(337-339)gGg>gAg	p.G113E	TRIM14_ENST00000375098.3_Missense_Mutation_p.G113E|TRIM14_ENST00000342043.3_Missense_Mutation_p.G113E	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	14	20	0	59	113						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AGTGAATTTCCCCTTCAGCCA	0.428000													1	1	1	1	1	1	0.999937	14	21	0	63	1	6.590196e-01	3	2	0	63	5
NR4A3	0	broad.mit.edu	37	9	102595040	102595040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:102595040C>T	ENST00000330847.1	+	3	1098	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	NR4A3_ENST00000338488.4_Nonsense_Mutation_p.R341*|NR4A3_ENST00000395097.2_Nonsense_Mutation_p.R341*			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	44	5	0	91	341					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				CAAGAGACGTCGAAACCGATG	0.368000			T	EWSR1	extraskeletal myxoid chondrosarcoma								1	1	1	1	1	1	1.000000	50	6	0	100	0	9.884376e-01	0	4	0	100	5
SMC2	10592	broad.mit.edu	37	9	106874060	106874060	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:106874060A>G	ENST00000286398.7	+	10	1507	c.1219A>G	c.(1219-1221)Aat>Gat	p.N407D	SMC2_ENST00000374793.3_Missense_Mutation_p.N407D|SMC2_ENST00000303219.8_Missense_Mutation_p.N407D|SMC2_ENST00000374787.3_Missense_Mutation_p.N407D	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	25	1	0	40	407					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGCCTGTAAAAATGATATAAG	0.418000													1	1	1	1	1	1	1.000000	27	1	0	43	1	1	31	1	0	43	5
HSPA5	3309	broad.mit.edu	37	9	128003021	128003021	+	Silent	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr9:128003021C>T	ENST00000324460.6	-	2	491	c.288G>A	c.(286-288)aaG>aaA	p.K96K		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	34	63	0	150	96					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			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CGATGAGCCGCTTGGCGTCAA	0.567000										Prostate(1;0.17)			1	1	1	1	1	1	1.000000	38	69	0	179	1	1	253	495	0	179	5
DNAJB12	54788	broad.mit.edu	37	10	74096299	74096299	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:74096299C>T	ENST00000338820.3	-	7	1240	c.1091G>A	c.(1090-1092)tGg>tAg	p.W364*	DNAJB12_ENST00000444643.2_Nonsense_Mutation_p.W330*|DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000394903.2_Nonsense_Mutation_p.W364*	NM_001002762.2	NP_001002762.2	Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	43	101	0	115	330					protein folding	endoplasmic reticulum|integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|large_intestine(2)|skin(1)	4						CTTCTCCTTCCAGCAGTTGTT	0.562000													1	1	1	1	1	1	1.000000	53	108	0	131	1	1	10	124	0	131	5
SLC18A2	6571	broad.mit.edu	37	10	119027213	119027213	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr10:119027213C>A	ENST00000298472.5	+	13	1295	c.1152C>A	c.(1150-1152)ctC>ctA	p.L384L	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	3	10	0	25	384					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TTTATGGACTCATAGCTCCGA	0.373000													1	0	1	1	1	1	0.949096	5	11	0	27	0	4.070175e-01	0	4	0	27	4
OR4A47	403253	broad.mit.edu	37	11	48511046	48511046	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:48511046C>A	ENST00000446524.1	+	1	778	c.702C>A	c.(700-702)gcC>gcA	p.A234A		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	12	166	0	133	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGCAAAAAGCCCTCTCAACCT	0.433000													1	1	1	1	0	1	0.999214	12	173	0	136	0	0	0	0	0	136	4
FCHSD2	9873	broad.mit.edu	37	11	72552578	72552578	+	Silent	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:72552578G>A	ENST00000409314.1	-	19	2217	c.2049C>T	c.(2047-2049)taC>taT	p.Y683Y	ATG16L2_ENST00000534905.1_Intron|FCHSD2_ENST00000409418.4_Silent_p.Y659Y|FCHSD2_ENST00000409263.1_Silent_p.Y20Y|FCHSD2_ENST00000311172.7_Silent_p.Y603Y|FCHSD2_ENST00000458644.2_Silent_p.Y523Y			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	12	4	0	24	659							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GAGGCTGGTCGTACAACGGCA	0.617000													1	1	1	1	1	1	0.999992	14	5	0	25	1	1	12	22	0	25	5
RNF214	257160	broad.mit.edu	37	11	117152658	117152658	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr11:117152658C>T	ENST00000530849.1	+	10	929	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	RNF214_ENST00000531452.1_Missense_Mutation_p.R462W|RNF214_ENST00000524917.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.R462W|RNF214_ENST00000531287.1_Missense_Mutation_p.R307W			Q8ND24	RN214_HUMAN	ring finger protein 214	72	113	0	210	462							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	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;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TCTGGCTCCTCGGATGCCCTT	0.527000													1	1	1	1	1	1	1.000000	81	124	0	227	1	9.999481e-01	7	20	0	227	5
RAPGEF3	10411	broad.mit.edu	37	12	48132985	48132985	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:48132985C>T	ENST00000405493.2	-	24	2485	c.2276G>A	c.(2275-2277)cGa>cAa	p.R759Q	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.R801Q|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.R759Q|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.R801Q|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.R759Q|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.R692Q	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	16	60	0	46	759					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GAGGGCCAGTCGGTATACCCG	0.597000													1	1	1	1	1	1	0.999998	20	65	0	53	0	9.784630e-01	1	23	0	53	5
KMT2D	8085	broad.mit.edu	37	12	49442982	49442982	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:49442982G>A	ENST00000301067.7	-	12	3925	c.3926C>T	c.(3925-3927)cCa>cTa	p.P1309L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	8	13	0	10																		GCGTCTTCCTGGGAAACTGCT	0.547000													0	1	1	1	1	1	0.997387	9	13	0	11	0	0	0	0	0	11	4
GPR182	11318	broad.mit.edu	37	12	57389633	57389633	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:57389633T>C	ENST00000300098.1	+	2	859	c.640T>C	c.(640-642)Tgg>Cgg	p.W214R		NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	17	26	0	41	214						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GTACAGCACCTGGGCCCTGGC	0.632000													1	1	1	1	1	1	0.999993	17	26	0	43	0	0	0	1	0	43	5
USP30	84749	broad.mit.edu	37	12	109494590	109494590	+	Silent	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:109494590A>C	ENST00000257548.5	+	2	280	c.187A>C	c.(187-189)Aga>Cga	p.R63R	USP30_ENST00000392784.2_Silent_p.R32R	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	16	55	0	74	63					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AAAGAAGCGTAGAAAAGGTAA	0.423000													1	1	1	1	0	1	0.999985	17	55	0	82	1	9.366937e-01	10	8	0	82	4
TMEM132B	114795	broad.mit.edu	37	12	126138685	126138685	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr12:126138685T>C	ENST00000299308.3	+	9	2674	c.2666T>C	c.(2665-2667)gTg>gCg	p.V889A	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V401A	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	8	92	0	88	889						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	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)		GACCTCACAGTGACCTCAAGG	0.507000													1	0	1	1	0	1	0.990296	8	97	0	92	0	4.069851e-02	0	4	0	92	3
COG6	57511	broad.mit.edu	37	13	40297490	40297490	+	Silent	SNP	A	A	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr13:40297490A>C	ENST00000416691.1	+	16	1705	c.1605A>C	c.(1603-1605)acA>acC	p.T535T	COG6_ENST00000455146.3_Silent_p.T535T	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	14	17	0	56	535					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ATTTGGACACACTTATAAATG	0.368000													1	1	1	1	1	1	0.999996	17	19	0	62	1	9.999874e-01	14	18	0	62	5
STXBP6	0	broad.mit.edu	37	14	25325252	25325252	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr14:25325252C>T	ENST00000323944.5	-	4	792	c.341G>A	c.(340-342)aGc>aAc	p.S114N	STXBP6_ENST00000548724.1_Missense_Mutation_p.S114N|STXBP6_ENST00000396700.1_Missense_Mutation_p.S114N|STXBP6_ENST00000546511.1_Missense_Mutation_p.S114N|STXBP6_ENST00000358326.2_Missense_Mutation_p.S114N|STXBP6_ENST00000419632.2_Missense_Mutation_p.S114N|STXBP6_ENST00000550887.1_Missense_Mutation_p.S114N			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	4	57	0	51	114					vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		TGACGCTGTGCTGGCTACCCA	0.423000													0	0	1	0	0	1	0.892544	4	60	0	55	1	9.980284e-01	10	228	0	55	1
SAV1	60485	broad.mit.edu	37	14	51132202	51132202	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr14:51132202G>C	ENST00000324679.4	-	2	593	c.230C>G	c.(229-231)cCa>cGa	p.P77R		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	5	12	0	21	77					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					TCTTTGAATTGGAGTTCTAAG	0.393000													1	0	1	1	1	1	0.947670	5	13	0	22	1	9.989012e-01	24	28	0	22	4
MEIS2	4212	broad.mit.edu	37	15	37390250	37390250	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr15:37390250C>T	ENST00000338564.5	-	3	609	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	MEIS2_ENST00000397624.3_5'UTR|MEIS2_ENST00000559085.1_Missense_Mutation_p.A42T|MEIS2_ENST00000557796.2_Missense_Mutation_p.A42T|MEIS2_ENST00000444725.1_Missense_Mutation_p.A55T|MEIS2_ENST00000424352.2_Missense_Mutation_p.A55T|MEIS2_ENST00000340545.5_Missense_Mutation_p.A42T|MEIS2_ENST00000382766.2_Missense_Mutation_p.A55T|MEIS2_ENST00000397620.2_5'UTR|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000559561.1_Missense_Mutation_p.A55T|MEIS2_ENST00000561208.1_Missense_Mutation_p.A55T	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	36	7	0	70	55					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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		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)		GGGTGCGGGGCGTGCGCGCCG	0.667000													1	1	1	1	1	1	1.000000	41	7	0	82	1	1	9	8	0	82	5
USP50	373509	broad.mit.edu	37	15	50838720	50838720	+	Translation_Start_Site	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr15:50838720C>A	ENST00000532404.1	-	1	176	c.3G>T	c.(1-3)atG>atT	p.M1I	USP50_ENST00000530218.1_5'UTR	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN	ubiquitin specific peptidase 50	23	7	0	74	1					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		GCTGAGAAGTCATTTTAATGG	0.443000													1	1	1	1	1	1	1.000000	24	7	0	83	0	0	0	0	0	83	5
RHCG	51458	broad.mit.edu	37	15	90026330	90026330	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr15:90026330C>T	ENST00000268122.4	-	3	558	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	RHCG_ENST00000544600.1_Missense_Mutation_p.V164M	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	4	7	0	22	164					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			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AACTCATTCACAGCGAAGAGG	0.542000													1	0	1	1	1	1	0.903106	4	8	0	24	0	0	0	1	0	24	4
MMP25	64386	broad.mit.edu	37	16	3107185	3107185	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr16:3107185C>G	ENST00000336577.4	+	5	1050	c.813C>G	c.(811-813)gaC>gaG	p.D271E	RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	16	225	0	230	271					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CTCAGGATGACCGCGATGGCC	0.642000													1	1	1	1	0	1	0.999992	19	265	0	257	0	5.116834e-03	0	2	0	257	4
SYT17	51760	broad.mit.edu	37	16	19195202	19195202	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr16:19195202C>A	ENST00000562034.1	+	3	4299	c.501C>A	c.(499-501)aaC>aaA	p.N167K	SYT17_ENST00000355377.2_Missense_Mutation_p.N228K|SYT17_ENST00000568115.1_Missense_Mutation_p.N167K|SYT17_ENST00000562711.2_Missense_Mutation_p.N224K			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	29	303	0	209	228						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CGCACTCCAACCCCTACGTCA	0.612000													1	1	1	1	0	1	1.000000	34	338	0	236	0	7.575744e-01	0	29	0	236	4
RAP1GAP2	23108	broad.mit.edu	37	17	2911416	2911416	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:2911416G>A	ENST00000254695.8	+	17	1561	c.1471G>A	c.(1471-1473)Ggg>Agg	p.G491R	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.G491R|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.G476R|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.G472R	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	10	64	0	111	491					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						TGGAGGCCACGGGGGGTTCCT	0.582000													1	1	1	1	1	1	0.998720	11	72	0	126	0	7.156340e-01	1	17	0	126	5
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	50	7	0	58	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	56	8	0	67	1	1	185	20	0	67	5
DNAH9	1770	broad.mit.edu	37	17	11651054	11651054	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:11651054T>A	ENST00000262442.3	+	32	6649	c.6581T>A	c.(6580-6582)aTc>aAc	p.I2194N	DNAH9_ENST00000454412.2_Missense_Mutation_p.I2194N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	26	34	0	87	2194	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			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		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)		TTTGGCATCATCAATCCAGCC	0.527000													1	1	1	1	1	1	1.000000	28	36	0	94	0	0	0	0	0	94	5
ZSWIM7	125150	broad.mit.edu	37	17	15884460	15884460	+	Splice_Site	SNP	T	T	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:15884460T>A	ENST00000399277.1	-	4	299		c.e4-2		ZSWIM7_ENST00000472495.1_Splice_Site|ZSWIM7_ENST00000486655.1_Intron|ZSWIM7_ENST00000399280.2_Splice_Site	NM_001042697.1|NM_001042698.1	NP_001036162.1|NP_001036163.1	Q19AV6	ZSWM7_HUMAN	zinc finger, SWIM-type containing 7	10	25	0	40						DNA recombination|DNA repair	nucleus	zinc ion binding			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)		TCCAAGGACCTACAAAGAAAG	0.423000													1	1	1	1	1	1	0.999147	11	27	0	42	0	9.998737e-01	0	3	0	42	5
CHAD	1101	broad.mit.edu	37	17	48545806	48545806	+	Silent	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:48545806G>A	ENST00000508540.1	-	1	521	c.369C>T	c.(367-369)acC>acT	p.T123T	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Silent_p.T123T|ACSF2_ENST00000502667.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	7	147	0	68	123					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGGTCAGCTCGGTCAGGTCGT	0.602000													1	0	1	1	0	1	0.989925	8	156	0	73	0	8.991752e-01	0	82	0	73	3
CACNA1G	8913	broad.mit.edu	37	17	48696033	48696033	+	Silent	SNP	T	T	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:48696033T>C	ENST00000352832.5	+	31	5715	c.5343T>C	c.(5341-5343)tgT>tgC	p.C1781C	CACNA1G_ENST00000358244.5_Silent_p.C1781C|CACNA1G_ENST00000505165.1_Silent_p.C1815C|CACNA1G_ENST00000507336.1_Silent_p.C1804C|CACNA1G_ENST00000507510.2_Silent_p.C1815C|CACNA1G_ENST00000507609.1_Silent_p.C1808C|CACNA1G_ENST00000507896.1_Silent_p.C1804C|CACNA1G_ENST00000515765.1_Silent_p.C1804C|CACNA1G_ENST00000354983.4_Silent_p.C1781C|CACNA1G_ENST00000503485.1_Silent_p.C1781C|CACNA1G_ENST00000510366.1_Silent_p.C1763C|CACNA1G_ENST00000442258.2_Silent_p.C1774C|CACNA1G_ENST00000502264.1_Silent_p.C1792C|CACNA1G_ENST00000513689.2_Silent_p.C1770C|CACNA1G_ENST00000513964.1_Silent_p.C1770C|CACNA1G_ENST00000360761.4_Silent_p.C1792C|CACNA1G_ENST00000429973.2_Silent_p.C1797C|CACNA1G_ENST00000514079.1_Silent_p.C1822C|CACNA1G_ENST00000514181.1_Silent_p.C1790C|CACNA1G_ENST00000515165.1_Silent_p.C1815C|CACNA1G_ENST00000359106.5_Silent_p.C1815C|CACNA1G_ENST00000515411.1_Silent_p.C1797C|CACNA1G_ENST00000510115.1_Silent_p.C1781C|CACNA1G_ENST00000514717.1_Silent_p.C1758C|CACNA1G_ENST00000512389.1_Silent_p.C1804C	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	15	55	0	57	1815					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	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)	TCCGGGACTGTGACCAGGAGT	0.577000													1	1	0	1	0	1	0.999967	16	59	0	60	1	9.530352e-01	2	20	0	60	3
C17orf70	80233	broad.mit.edu	37	17	79514331	79514331	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr17:79514331C>T	ENST00000537152.1	-	5	1849	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N	C17orf70_ENST00000327787.8_Missense_Mutation_p.D593N|C17orf70_ENST00000425898.2_Missense_Mutation_p.D242N	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	31	80	0	45	593					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	p.D442N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACGGGCAGGTCGAGCCCGCCG	0.682000													1	1	1	1	1	1	1.000000	37	97	0	54	1	1	57	121	0	54	5
DNM2	1785	broad.mit.edu	37	19	10906831	10906831	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:10906831G>C	ENST00000359692.6	+	10	1441	c.1291G>C	c.(1291-1293)Gtt>Ctt	p.V431L	DNM2_ENST00000408974.4_Intron|DNM2_ENST00000355667.6_Missense_Mutation_p.V431L|DNM2_ENST00000585892.1_Missense_Mutation_p.V431L|DNM2_ENST00000389253.4_Intron|DNM2_ENST00000314646.5_Intron	NM_004945.3	NP_004936.2	P50570	DYN2_HUMAN	dynamin 2	38	133	0	158	431					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			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGTCGACCTGGTTATCCAGGA	0.532000			F, N, Splice, Mis, O		ETP ALL								1	1	1	1	1	1	1.000000	40	148	0	179	1	9.999990e-01	22	62	0	179	5
JAK3	3718	broad.mit.edu	37	19	17943399	17943399	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:17943399C>T	ENST00000458235.1	-	19	2708	c.2609G>A	c.(2608-2610)cGg>cAg	p.R870Q	JAK3_ENST00000534444.1_Missense_Mutation_p.R870Q|JAK3_ENST00000527670.1_Missense_Mutation_p.R870Q	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	34	148	0	126	870	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			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CTGAATCTCCCGCTGAAAGTC	0.577000		2	Mis		acute megakaryocytic leukemia, ETP ALL								1	1	1	1	1	1	1.000000	37	152	0	135	0	1.044857e-01	0	3	0	135	5
CYP2F1	1572	broad.mit.edu	37	19	41622201	41622201	+	Silent	SNP	C	C	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:41622201C>A	ENST00000331105.2	+	2	180	c.108C>A	c.(106-108)ccC>ccA	p.P36P		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	100	247	0	332	36					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GACCCAGACCCCTCTCAATCC	0.547000													1	1	1	1	1	1	1.000000	110	264	0	392	0	0	0	1	0	392	5
KIR3DL1	3811	broad.mit.edu	37	19	55331426	55331426	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chr19:55331426A>T	ENST00000391728.4	+	4	647	c.614A>T	c.(613-615)cAg>cTg	p.Q205L	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Q110L|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Q205L|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Q205L	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	27	173	0	229											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACCCCCTATCAGTTGTCAGCT	0.522000													1	1	1	1	0	1	1.000000	32	194	0	208	0	0	0	0	0	208	4
OGT	8473	broad.mit.edu	37	X	70784520	70784520	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PO-01A-11D-A28R-08	TCGA-N8-A4PO-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	08a3c67f-02f0-4d96-a78c-1f543f6ecf55	6c6448a5-8344-4865-845b-0051c7d80041	g.chrX:70784520G>A	ENST00000373719.3	+	19	2723	c.2506G>A	c.(2506-2508)Ggg>Agg	p.G836R	OGT_ENST00000373701.3_Missense_Mutation_p.G826R	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	12	16	0	48	836					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			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTCTCAGTACGGGTTACCAGA	0.398000													1	1	1	1	1	1	0.999883	13	16	0	50	0	9.999998e-01	1	62	0	50	5
CELA2B	51032	broad.mit.edu	37	1	15812530	15812530	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:15812530T>C	ENST00000375910.3	+	6	653	c.628T>C	c.(628-630)Tgc>Cgc	p.C210R		NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	55	173	0	296	210	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						TGGCGTGATATGCACCTGCAA	0.562000													1	1	1	1	1	1	1.000000	65	197	0	330	0	0	0	0	0	330	5
WNT4	54361	broad.mit.edu	37	1	22456324	22456324	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:22456324G>A	ENST00000290167.6	-	2	141	c.98C>T	c.(97-99)tCg>tTg	p.S33L	WNT4_ENST00000542383.1_5'UTR	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	40	174	0	207	33					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-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;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GCTCCCCACCGACGACAGCTT	0.627000													1	1	1	1	1	1	1.000000	45	199	0	227	1	6.323912e-01	5	6	0	227	5
PAQR7	164091	broad.mit.edu	37	1	26190027	26190027	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:26190027G>T	ENST00000374296.3	-	2	970	c.304C>A	c.(304-306)Cca>Aca	p.P102T		NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	22	93	0	123	102					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		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)		AGGGCGTGTGGGTCTCCCCAG	0.612000													1	1	1	1	1	1	1.000000	23	98	0	132	1	9.848550e-01	8	24	0	132	5
HIVEP3	59269	broad.mit.edu	37	1	42050036	42050036	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:42050036G>A	ENST00000372584.1	-	3	1447	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F	HIVEP3_ENST00000247584.5_Missense_Mutation_p.L145F|HIVEP3_ENST00000429157.2_Missense_Mutation_p.L145F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L145F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	40	177	0	175	145					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGGAAGGAAGGAGCTGGCTC	0.612000													1	1	1	1	1	1	1.000000	43	193	0	195	0	3.480890e-02	1	1	0	195	5
EPS15	2060	broad.mit.edu	37	1	51868137	51868137	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:51868137C>A	ENST00000371733.3	-	18	1948	c.1852G>T	c.(1852-1854)Gat>Tat	p.D618Y	EPS15_ENST00000396122.4_Missense_Mutation_p.D295Y|EPS15_ENST00000371730.2_Missense_Mutation_p.D484Y	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	22	88	0	95	618	15 X 3 AA repeats of D-P-F.				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	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGGAAAAAATCCAAGTTTGTA	0.269000			T	MLL	ALL								1	1	1	1	1	1	1.000000	27	111	0	120	1	9.985717e-01	6	39	0	120	5
C1orf87	127795	broad.mit.edu	37	1	60520989	60520989	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:60520989T>C	ENST00000371201.3	-	3	336	c.229A>G	c.(229-231)Act>Gct	p.T77A	C1orf87_ENST00000450089.2_Missense_Mutation_p.T77A	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	46	136	0	215	77							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGATTATCAGTGGTTTGCTGA	0.423000													1	1	1	1	1	1	1.000000	54	149	0	227	0	0	0	0	0	227	5
VPS72	6944	broad.mit.edu	37	1	151156886	151156886	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:151156886G>C	ENST00000354473.4	-	4	505	c.469C>G	c.(469-471)Cgg>Ggg	p.R157G	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	19	338	0	137	157					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	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)			CCCTTTCGCCGTCTTGACTGG	0.557000													1	0	1	1	0	1	0.999996	20	369	0	142	1	1	67	747	0	142	3
HRNR	388697	broad.mit.edu	37	1	152191669	152191669	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:152191669G>A	ENST00000368801.2	-	3	2511	c.2436C>T	c.(2434-2436)ggC>ggT	p.G812G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	35	230	0	126	812					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAAGCCTGGCCTGAGCCAG	0.572000													1	1	1	1	1	1	1.000000	37	243	0	129	0	0	0	0	0	129	5
KPRP	448834	broad.mit.edu	37	1	152733337	152733337	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:152733337C>T	ENST00000368773.1	+	2	1331	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*	KPRP_ENST00000606109.1_Nonsense_Mutation_p.R425*	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	121	265	0	182	425	Pro-rich.					cytoplasm		p.R425*(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCTACCACGACAACTTTC	0.577000													1	1	1	1	1	1	1.000000	126	279	0	194	0	0	0	0	0	194	5
LCE1A	353131	broad.mit.edu	37	1	152799971	152799971	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:152799971A>G	ENST00000335123.2	+	1	23	c.23A>G	c.(22-24)cAg>cGg	p.Q8R		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	20	319	0	143	8	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	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)			CAGAGCCAGCAGCAGTGCCAG	0.617000													1	1	1	1	0	1	1.000000	26	384	0	159	0	0	0	0	0	159	4
NPR1	4881	broad.mit.edu	37	1	153659705	153659705	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:153659705C>G	ENST00000368680.3	+	13	2437	c.1965C>G	c.(1963-1965)atC>atG	p.I655M		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	58	137	0	65	655	Protein kinase.				body fluid secretion|intracellular signal transduction|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		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	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)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ATGGGGCTATCTGTTCCCATG	0.562000													1	1	1	1	1	1	1.000000	63	151	0	69	1	1	2	108	0	69	5
NPR1	4881	broad.mit.edu	37	1	153660533	153660533	+	Silent	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:153660533C>A	ENST00000368680.3	+	15	2725	c.2253C>A	c.(2251-2253)atC>atA	p.I751I		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	62	108	0	116	751	Protein kinase.				body fluid secretion|intracellular signal transduction|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		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	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)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ATACAGAGATCATCGAGCGGG	0.657000													1	1	1	1	1	1	1.000000	74	115	0	125	0	1	1	130	0	125	5
RRNAD1	51093	broad.mit.edu	37	1	156702121	156702121	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:156702121G>A	ENST00000524343.1	+	2	305	c.160G>A	c.(160-162)Gtg>Atg	p.V54M	RRNAD1_ENST00000476229.1_5'UTR|RRNAD1_ENST00000368216.4_Silent_p.A95A|RRNAD1_ENST00000368218.4_Silent_p.A95A			Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	17	48	0	86	0						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						AGTCCACGGCGTGTGCCCTGG	0.592000													1	1	1	1	1	1	0.999997	19	52	0	94	1	9.801874e-01	11	10	0	94	5
OR10Z1	128368	broad.mit.edu	37	1	158576730	158576730	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:158576730T>G	ENST00000361284.1	+	1	502	c.502T>G	c.(502-504)Ttc>Gtc	p.F168V		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	27	107	0	124	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CCACCTCTCATTCTGCAGCTC	0.498000													1	1	1	1	1	1	1.000000	30	114	0	134	0	0	0	0	0	134	5
FAM5B	0	broad.mit.edu	37	1	177199126	177199126	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:177199126G>A	ENST00000361539.4	+	2	426	c.114G>A	c.(112-114)gcG>gcA	p.A38A		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		33	46	0	74	38						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CAGCCACGGCGGCTGCTGTGG	0.692000													1	1	1	1	1	1	1.000000	35	47	0	79	0	0	1	0	0	79	5
COLGALT2	23127	broad.mit.edu	37	1	183944241	183944241	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:183944241T>C	ENST00000361927.4	-	3	853	c.482A>G	c.(481-483)gAc>gGc	p.D161G	COLGALT2_ENST00000546159.1_Missense_Mutation_p.D161G	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2	29	45	0	60																		CAGAATGTAGTCTGACCATTT	0.448000													1	1	1	1	1	1	1.000000	33	55	0	67	1	9.494418e-01	8	3	0	67	5
DISP1	84976	broad.mit.edu	37	1	223116295	223116295	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:223116295G>C	ENST00000284476.6	+	2	294	c.130G>C	c.(130-132)Gaa>Caa	p.E44Q	DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Missense_Mutation_p.E44Q	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	15	57	0	88	44					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CACACCCAAAGAAGCAACAAG	0.507000													1	1	1	1	1	1	0.999930	15	60	0	88	0	4.528805e-02	1	1	0	88	5
MYT1L	23040	broad.mit.edu	37	2	1926933	1926933	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:1926933T>G	ENST00000399161.2	-	10	1355	c.608A>C	c.(607-609)aAg>aCg	p.K203T	MYT1L_ENST00000428368.2_Missense_Mutation_p.K203T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	4	33	0	37	203					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	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)		TAACAATGACTTGGCCACCAG	0.423000													0	0	1	0	1	1	0.893546	4	39	0	38	0	0	0	0	0	38	2
SPTBN1	0	broad.mit.edu	37	2	54858342	54858342	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:54858342A>C	ENST00000333896.5	+	15	3504	c.3119A>C	c.(3118-3120)aAc>aCc	p.N1040T	SPTBN1_ENST00000356805.4_Missense_Mutation_p.N1053T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	5	129	0	130	1053					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCCTGAAAAACCGAGAGGCC	0.632000													0	0	1	0	0	1	0.938631	5	142	0	141	1	8.260837e-01	3	90	0	141	1
ACTR3	10096	broad.mit.edu	37	2	114691916	114691916	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:114691916G>A	ENST00000263238.2	+	6	813	c.493G>A	c.(493-495)Ggt>Agt	p.G165S	ACTR3_ENST00000535589.2_Missense_Mutation_p.G114S|ACTR3_ENST00000536059.1_Missense_Mutation_p.G103S	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	86	117	0	163	165					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GACGTTGACCGGTACGGTAAT	0.418000													1	1	1	1	1	1	1.000000	101	141	0	187	1	1	163	149	0	187	5
DPP10	57628	broad.mit.edu	37	2	116594298	116594298	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:116594298T>G	ENST00000410059.1	+	24	2638	c.2158T>G	c.(2158-2160)Tta>Gta	p.L720V	DPP10_ENST00000409163.1_Missense_Mutation_p.L670V|DPP10_ENST00000310323.8_Missense_Mutation_p.L713V|DPP10_ENST00000393147.2_Missense_Mutation_p.L724V	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	24	108	0	115	720					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAAAATATATTAATAATTCA	0.338000													1	1	1	1	1	1	1.000000	28	129	0	128	0	0	0	0	0	128	5
HOXD10	3236	broad.mit.edu	37	2	176982219	176982219	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:176982219G>A	ENST00000249501.4	+	1	913	c.658G>A	c.(658-660)Gag>Aag	p.E220K	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	13	67	0	96	220						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GGAGAGCCCCGAGGCCAAAGG	0.622000													1	1	1	1	1	1	0.999684	13	69	0	97	0	4.509917e-01	0	9	0	97	5
HOXD9	3235	broad.mit.edu	37	2	176987826	176987826	+	Silent	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:176987826C>T	ENST00000249499.6	+	1	739	c.330C>T	c.(328-330)tcC>tcT	p.S110S	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	6	10	0	11	110						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCTCTGCCTCCGAGCCCGGCC	0.796000													0	1	1	1	0	1	0.987210	7	14	0	13	0	4.314381e-01	1	3	0	13	3
TTN	7273	broad.mit.edu	37	2	179615491	179615491	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:179615491G>T	ENST00000360870.5	-	46	11858	c.11636C>A	c.(11635-11637)gCc>gAc	p.A3879D	TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	13	40	0	41	9701							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATTCGCTGGCATGTGGTGT	0.358000													1	1	1	1	1	1	0.999885	14	40	0	43	0	0	1	0	0	43	5
STAT1	6772	broad.mit.edu	37	2	191848434	191848434	+	Missense_Mutation	SNP	G	G	C	rs150942324		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:191848434G>C	ENST00000361099.3	-	17	1767	c.1380C>G	c.(1378-1380)aaC>aaG	p.N460K	STAT1_ENST00000392322.3_Missense_Mutation_p.N460K|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Missense_Mutation_p.N460K|STAT1_ENST00000392323.2_Missense_Mutation_p.N462K	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	21	122	0	140	460					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			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GCTGGCTGACGTTGGAGATCA	0.507000													1	1	1	1	1	1	1.000000	23	148	0	152	1	1	125	510	0	152	5
TRIP12	9320	broad.mit.edu	37	2	230667108	230667108	+	Silent	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:230667108A>G	ENST00000283943.5	-	20	3019	c.2841T>C	c.(2839-2841)tgT>tgC	p.C947C	TRIP12_ENST00000389044.4_Silent_p.C995C|TRIP12_ENST00000389045.3_Silent_p.C677C|TRIP12_ENST00000543084.1_Intron	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	10	89	0	94	947					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		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)		ATCCATTCGTACATGCCTTTG	0.473000													1	1	1	1	1	1	0.999291	12	101	0	107	1	9.950201e-01	15	65	0	107	5
UGT1A4	0	broad.mit.edu	37	2	234628129	234628129	+	Silent	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:234628129C>A	ENST00000373409.3	+	1	706	c.663C>A	c.(661-663)tcC>tcA	p.S221S	UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron	NM_007120.2	NP_009051.1				28	183	1	200											autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		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;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		TGGCCCTGTCCTACATTTGCC	0.463000													1	0	1	1	1	1	0.999994	29	194	1	205	0	0	0	0	1	205	4
BRPF1	7862	broad.mit.edu	37	3	9786709	9786709	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:9786709T>G	ENST00000383829.2	+	10	3342	c.2938T>G	c.(2938-2940)Ttc>Gtc	p.F980V	BRPF1_ENST00000424362.1_Missense_Mutation_p.F973V|BRPF1_ENST00000457855.1_Missense_Mutation_p.F974V|BRPF1_ENST00000302054.3_Missense_Mutation_p.F974V|BRPF1_ENST00000433861.2_Missense_Mutation_p.F879V	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	24	76	0	114	974	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			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AGCCAATGGCTTCAGCGGTGG	0.527000													1	1	1	1	1	1	1.000000	27	91	0	122	1	9.998788e-01	16	37	0	122	5
TRANK1	9881	broad.mit.edu	37	3	36874297	36874297	+	Silent	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:36874297T>G	ENST00000301807.6	-	21	6892	c.4995A>C	c.(4993-4995)acA>acC	p.T1665T	TRANK1_ENST00000428977.2_Silent_p.T1665T|TRANK1_ENST00000429976.2_Silent_p.T2215T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	19	52	0	93	2215					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CATACATATCTGTAGACAAAA	0.388000													1	1	1	1	1	1	0.999999	20	55	0	99	1	3.025316e-01	2	2	0	99	5
SCN10A	6336	broad.mit.edu	37	3	38739317	38739317	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:38739317G>A	ENST00000449082.2	-	27	5393	c.5394C>T	c.(5392-5394)atC>atT	p.I1798I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	7	42	0	74	1798					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				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)	CCAAGCAGTGGATCTTATCTC	0.473000													1	1	0	1	1	1	0.983137	7	46	0	75	0	0	0	0	0	75	4
DRD3	1814	broad.mit.edu	37	3	113850128	113850128	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:113850128C>G	ENST00000383673.2	-	6	1273	c.843G>C	c.(841-843)aaG>aaC	p.K281N	DRD3_ENST00000460779.1_Missense_Mutation_p.K281N|DRD3_ENST00000295881.7_Missense_Mutation_p.K281N|DRD3_ENST00000467632.1_Missense_Mutation_p.K281N	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	82	164	0	194	281					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			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AATTCCGAGTCTTCTCCTCTC	0.522000													1	1	1	1	1	1	1.000000	97	180	0	211	0	1.241935e-01	0	2	0	211	5
ATP11B	23200	broad.mit.edu	37	3	182584220	182584220	+	Silent	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:182584220A>G	ENST00000323116.5	+	14	1868	c.1608A>G	c.(1606-1608)gaA>gaG	p.E536E		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	33	77	0	74	536					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			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	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)			CTCTAGTAGAAGCTGCTGCAA	0.378000													1	1	1	1	1	1	1.000000	37	91	0	80	1	9.896686e-01	12	9	0	80	5
ATP13A4	84239	broad.mit.edu	37	3	193188757	193188757	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr3:193188757G>A	ENST00000342695.4	-	9	1156	c.834C>T	c.(832-834)cgC>cgT	p.R278R	ATP13A4_ENST00000295548.3_Silent_p.R278R|ATP13A4_ENST00000392443.3_Silent_p.R278R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	50	253	0	200	278					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	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)		GCACCAGGACGCGTGATTCCA	0.448000													1	1	1	1	1	1	1.000000	54	295	0	231	0	0	0	1	0	231	5
GNRHR	0	broad.mit.edu	37	4	68619733	68619733	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr4:68619733C>G	ENST00000226413.4	-	1	345	c.321G>C	c.(319-321)tgG>tgC	p.W107C	RP11-453E17.1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.W107C|RP11-453E17.1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	15	61	0	100	107					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	CTCCAGCATACCATTGGACTG	0.473000													1	1	1	1	1	1	0.999965	16	64	0	107	0	0	0	0	0	107	5
HNRNPD	3184	broad.mit.edu	37	4	83279884	83279884	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr4:83279884T>A	ENST00000313899.7	-	4	826	c.549A>T	c.(547-549)aaA>aaT	p.K183N	HNRNPD_ENST00000541060.1_Missense_Mutation_p.K29N|HNRNPD_ENST00000353341.4_Missense_Mutation_p.K183N|HNRNPD_ENST00000543098.1_Missense_Mutation_p.K131N|HNRNPD_ENST00000352301.4_Missense_Mutation_p.K164N	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	19	70	0	72	183	RRM 2.				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			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CAACAAAAATTTTTTTAACCG	0.368000													1	1	1	1	1	1	0.999998	20	75	0	79	0	1	0	983	0	79	5
ENPP6	133121	broad.mit.edu	37	4	185074851	185074851	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr4:185074851A>C	ENST00000296741.2	-	2	418	c.277T>G	c.(277-279)Tac>Gac	p.Y93D		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	10	35	0	45	93					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-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;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TCCCACATGTAGTTCCCGATC	0.473000													1	1	1	1	1	1	0.998946	11	41	0	50	0	0	0	0	0	50	5
FASTKD3	79072	broad.mit.edu	37	5	7863053	7863053	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:7863053G>C	ENST00000264669.5	-	4	1718	c.1582C>G	c.(1582-1584)Ctg>Gtg	p.L528V	FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	71	167	0	244	528					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGGTCTCCAGGGAACAGCAT	0.378000													1	1	1	1	1	1	1.000000	81	197	0	280	1	9.995055e-01	15	16	0	280	5
ZNF622	90441	broad.mit.edu	37	5	16463618	16463618	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:16463618C>G	ENST00000308683.2	-	2	985	c.859G>C	c.(859-861)Gat>Cat	p.D287H		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	15	84	0	91	287						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCCTTAATATCTGAAAGATAT	0.368000													1	1	1	1	1	1	0.999958	16	88	0	93	1	9.999942e-01	27	103	0	93	5
RASA1	5921	broad.mit.edu	37	5	86668014	86668014	+	Splice_Site	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:86668014T>C	ENST00000456692.2	+	13	1360		c.e13+2		RASA1_ENST00000274376.6_Splice_Site|RASA1_ENST00000506290.1_Splice_Site|RASA1_ENST00000512763.1_Splice_Site	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	10	17	0	44						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			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		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)		CTTCGTCAGGTGAAGCTTAAT	0.363000													1	1	1	1	1	1	0.999699	12	19	0	47	0	0	1	0	0	47	5
PJA2	9867	broad.mit.edu	37	5	108680479	108680479	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:108680479C>G	ENST00000361189.2	-	8	2045	c.1806G>C	c.(1804-1806)gaG>gaC	p.E602D	PJA2_ENST00000361557.3_Missense_Mutation_p.E602D	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	9	87	0	131	602	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			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		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)		GATTGGCCACCTCAACATCCA	0.408000													1	1	1	1	1	1	0.997335	10	97	0	142	1	9.918365e-01	19	66	0	142	5
PPIC	5480	broad.mit.edu	37	5	122365082	122365082	+	Missense_Mutation	SNP	T	T	C	rs45449493		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:122365082T>C	ENST00000306442.4	-	2	264	c.149A>G	c.(148-150)gAt>gGt	p.D50G		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	10	69	0	87	50	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		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)	TCTGCCAACATCTTTGTCTCC	0.398000													1	1	1	1	1	1	0.998673	11	83	0	103	1	9.999828e-01	37	142	0	103	5
PCDHA9	0	broad.mit.edu	37	5	140229832	140229832	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:140229832G>A	ENST00000378122.3	+	1	2476	c.1752G>A	c.(1750-1752)tcG>tcA	p.S584S	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.S584S|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1				58	130	0	148											breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGCGGTCGGTGGGCGCCG	0.667000													1	1	1	1	1	1	1.000000	63	140	0	160	0	0	0	0	0	160	5
PDGFRB	5159	broad.mit.edu	37	5	149503887	149503887	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:149503887G>A	ENST00000261799.4	-	14	2418	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	18	59	0	76	650	Protein kinase.				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			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		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)	CTTCAGCTCCGACATAAGGGC	0.637000			T	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP	MPD, AML, CMML, CML								1	1	1	1	1	1	1.000000	23	65	0	90	1	9.999985e-01	37	36	0	90	5
MED7	9443	broad.mit.edu	37	5	156566239	156566239	+	Silent	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:156566239A>G	ENST00000286317.5	-	2	585	c.204T>C	c.(202-204)caT>caC	p.H68H	MED7_ENST00000420343.1_Silent_p.H68H	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	3	51	0	61	68					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			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	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)			ACTGCATAGGATGAAGCCGTT	0.388000													1	0	0	1	1	1	0.940327	5	55	0	63	1	6.416259e-01	5	19	0	63	3
SH3PXD2B	285590	broad.mit.edu	37	5	171849420	171849420	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr5:171849420C>T	ENST00000311601.5	-	2	326	c.156_splice	c.e2+1	p.Q52_splice	SH3PXD2B_ENST00000519643.1_Splice_Site_p.Q52_splice	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	4	15	0	22	52	PX.				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			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	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)			AAATCCTTACCTGGAGGTCAA	0.498000													1	0	1	1	1	1	0.946083	5	16	0	23	1	7.276550e-01	3	7	0	23	4
NRN1	51299	broad.mit.edu	37	6	6002646	6002646	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:6002646T>C	ENST00000244766.2	-	2	357	c.140A>G	c.(139-141)gAc>gGc	p.D47G	NRN1_ENST00000495850.1_5'UTR	NM_016588.2	NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	33	146	0	164	47						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		GGCCATGCTGTCGCCCAGCTT	0.612000													1	1	1	1	1	1	1.000000	38	164	0	179	1	9.996982e-01	51	6	0	179	5
EPB41L2	2037	broad.mit.edu	37	6	131199330	131199330	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:131199330G>A	ENST00000337057.3	-	14	2138	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C	EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Missense_Mutation_p.R52C|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.R31C|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R653C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	20	28	0	71	653	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATAAAATTGCGCTTGAGTTCA	0.458000													1	1	1	1	1	1	0.999999	20	29	0	76	1	9.999998e-01	35	2	0	76	5
RAET1E	135250	broad.mit.edu	37	6	150210552	150210552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr6:150210552G>T	ENST00000532335.1	-	4	900	c.554C>A	c.(553-555)tCa>tAa	p.S185*	RAET1E_ENST00000367363.3_Nonsense_Mutation_p.S149*|RAET1E_ENST00000357183.4_Nonsense_Mutation_p.S185*|RP11-244K5.1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000529948.1_Nonsense_Mutation_p.S185*	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	43	45	0	79	185	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			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		GTCTCCCTTTGAGAGCTTCCT	0.493000													1	1	1	1	1	1	1.000000	47	47	0	81	0	0	0	0	0	81	5
GET4	51608	broad.mit.edu	37	7	933563	933563	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:933563T>G	ENST00000407192.1	+	7	3208	c.691T>G	c.(691-693)Ttc>Gtc	p.F231V	GET4_ENST00000265857.3_Missense_Mutation_p.F284V			Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	12	34	0	30	284					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding			breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACAGCTGTTCTTCGGCGTCCC	0.692000													1	1	1	1	1	1	0.999518	12	37	0	34	1	1	103	159	0	34	5
MIOS	54468	broad.mit.edu	37	7	7625282	7625282	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:7625282A>G	ENST00000340080.4	+	7	2085	c.1664A>G	c.(1663-1665)aAt>aGt	p.N555S	MIOS_ENST00000405785.1_Missense_Mutation_p.N555S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	53	66	1	108	555										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGAATCTCAATGTGGTAGCA	0.368000													1	0	1	1	1	1	1.000000	57	72	1	117	1	9.999766e-01	16	15	1	117	4
AMPH	273	broad.mit.edu	37	7	38431442	38431442	+	Silent	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:38431442C>T	ENST00000356264.2	-	19	2000	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	AMPH_ENST00000428293.2_Silent_p.Q553Q|AMPH_ENST00000325590.5_Silent_p.Q553Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	20	74	0	73	595					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AAGGCGTGGGCTGAGGGTCCT	0.632000													1	1	1	1	1	1	1.000000	23	84	0	82	0	2.086282e-01	0	4	0	82	5
ABCA13	154664	broad.mit.edu	37	7	48319344	48319344	+	Silent	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:48319344T>C	ENST00000435803.1	+	18	8577	c.8553T>C	c.(8551-8553)atT>atC	p.I2851I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	24	94	0	110	2851					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTTGAGATTTTCATTAAAG	0.348000													1	1	1	1	1	1	1.000000	25	100	0	118	0	0	0	0	0	118	5
CACNA2D1	781	broad.mit.edu	37	7	81591249	81591249	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:81591249T>C	ENST00000356860.3	-	36	3265	c.2927A>G	c.(2926-2928)aAa>aGa	p.K976R	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.K188R|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.K988R	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	4	65	0	62	988						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ACTGAATGATTTACTGTCGTT	0.388000													1	0	1	1	0	1	0.939550	5	77	0	68	1	5.832524e-01	2	27	0	68	3
PCLO	27445	broad.mit.edu	37	7	82784272	82784272	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:82784272C>G	ENST00000423517.2	-	2	2022	c.1685G>C	c.(1684-1686)gGa>gCa	p.G562A	PCLO_ENST00000333891.8_Missense_Mutation_p.G562A	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	22	456	0	360	508	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTTCCAGATCCTGTTTGGCT	0.522000													1	0	1	1	0	1	0.999999	22	481	0	388	0	0	0	0	0	388	3
MUC17	140453	broad.mit.edu	37	7	100683137	100683137	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:100683137A>T	ENST00000306151.4	+	3	8504	c.8440A>T	c.(8440-8442)Agt>Tgt	p.S2814C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	137	520	0	555	2814	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCATTAACTAGTATGCCTGT	0.498000													1	1	1	1	1	1	1.000000	145	546	0	590	0	0	0	0	0	590	5
PIK3CG	5294	broad.mit.edu	37	7	106508093	106508093	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:106508093G>A	ENST00000359195.3	+	2	397	c.87G>A	c.(85-87)gcG>gcA	p.A29A	PIK3CG_ENST00000440650.2_Silent_p.A29A|PIK3CG_ENST00000496166.1_Silent_p.A29A	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	19	140	0	127	29					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			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCAGTGCTGCGGCCAGCCTGT	0.637000													1	1	1	1	1	1	0.999999	22	151	0	137	0	0	0	0	0	137	5
PLAG1	5324	broad.mit.edu	37	8	57079313	57079313	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr8:57079313G>T	ENST00000316981.3	-	5	1471	c.992C>A	c.(991-993)tCt>tAt	p.S331Y	PLAG1_ENST00000423799.2_Missense_Mutation_p.S249Y|PLAG1_ENST00000429357.2_Missense_Mutation_p.S331Y	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	33	262	0	166	331	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			ATATTTGAAAGAAAGGTGGTG	0.418000			T	TCEA1, LIFR, CTNNB1, CHCHD7	salivary adenoma								1	0	1	1	1	1	1.000000	36	280	0	182	1	7.336542e-01	3	19	0	182	4
ZFHX4	79776	broad.mit.edu	37	8	77767179	77767179	+	Silent	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr8:77767179T>C	ENST00000521891.2	+	10	8470	c.8022T>C	c.(8020-8022)caT>caC	p.H2674H	ZFHX4_ENST00000050961.6_Silent_p.H2629H|ZFHX4_ENST00000455469.2_Silent_p.H2629H|ZFHX4_ENST00000518282.1_Silent_p.H2648H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	23	96	0	119	2629						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACAGTCTCATAAACGGTGTC	0.542000										HNSCC(33;0.089)			1	1	1	1	1	1	1.000000	27	109	0	130	1	6.759563e-01	4	7	0	130	5
C9orf84	158401	broad.mit.edu	37	9	114467555	114467555	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:114467555G>A	ENST00000394779.3	-	17	2762	c.2518C>T	c.(2518-2520)Cca>Tca	p.P840S	C9orf84_ENST00000318737.4_Missense_Mutation_p.P879S|C9orf84_ENST00000394777.4_Missense_Mutation_p.P805S|C9orf84_ENST00000374287.3_Missense_Mutation_p.P879S	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	7	41	0	48	879										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGTATGTCTGGAGTATTAAGA	0.338000													1	1	1	1	1	1	0.997751	10	47	0	51	0	0	0	0	0	51	5
COL5A1	1289	broad.mit.edu	37	9	137620521	137620521	+	Silent	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr9:137620521G>T	ENST00000371817.3	+	6	1206	c.792G>T	c.(790-792)acG>acT	p.T264T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	36	155	0	283	264	Nonhelical 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			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		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)		TTCAGTACACGGAAGGAGACG	0.612000													1	1	1	1	1	1	1.000000	38	167	0	302	1	1	60	70	0	302	5
ITIH5	80760	broad.mit.edu	37	10	7605313	7605313	+	Silent	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:7605313T>C	ENST00000256861.6	-	14	2640	c.2562A>G	c.(2560-2562)gaA>gaG	p.E854E	ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Silent_p.E640E|ITIH5_ENST00000446830.2_Silent_p.E636E	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	5	45	0	56	854					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGCAGGGTCTTCTGTGAGTC	0.567000													1	0	1	1	1	1	0.940714	5	48	0	62	1	9.963818e-01	27	95	0	62	4
ITGB1	3688	broad.mit.edu	37	10	33200429	33200429	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:33200429T>A	ENST00000396033.2	-	13	2013	c.1878A>T	c.(1876-1878)caA>caT	p.Q626H	ITGB1_ENST00000423113.1_Missense_Mutation_p.Q626H|ITGB1_ENST00000302278.3_Missense_Mutation_p.Q626H|ITGB1_ENST00000374956.4_Missense_Mutation_p.Q626H	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	28	144	0	121	626	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			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACGTTTGCCCTTGAAACTTCG	0.468000													1	1	1	1	1	1	1.000000	33	155	0	122	0	0	1	0	0	122	5
ZNF37A	7587	broad.mit.edu	37	10	38406502	38406502	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:38406502T>G	ENST00000351773.3	+	8	1253	c.423T>G	c.(421-423)aaT>aaG	p.N141K	ZNF37A_ENST00000361085.4_Missense_Mutation_p.N141K	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	23	87	0	76	141						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAATTAAAAATTGGGAACAAT	0.358000													1	0	1	1	1	1	1.000000	25	89	0	81	0	5.587621e-01	1	7	0	81	4
C10orf53	282966	broad.mit.edu	37	10	50901855	50901855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:50901855G>T	ENST00000374113.3	+	2	180	c.133G>T	c.(133-135)Gag>Tag	p.E45*	CHAT_ENST00000455728.2_3'UTR|C10orf53_ENST00000535836.1_Nonsense_Mutation_p.E45*|C10orf53_ENST00000374111.3_Nonsense_Mutation_p.E45*|C10orf53_ENST00000374112.3_Nonsense_Mutation_p.E45*			Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	7	66	0	72	45										endometrium(1)|lung(6)	7		all_neural(218;0.107)				GGTCATCCTAGAGAAGATAGA	0.473000													1	0	1	1	0	1	0.982279	7	71	0	77	0	0	0	0	0	77	3
CCDC6	8030	broad.mit.edu	37	10	61666143	61666143	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:61666143C>G	ENST00000263102.6	-	1	271	c.40G>C	c.(40-42)Ggg>Cgg	p.G14R		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	7	27	0	30	14						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CTGTTGCCCCCCGCCCCGTCC	0.776000			T	RET	NSCLC								1	1	1	1	0	1	0.991943	8	32	0	34	0	2.093023e-01	0	4	0	34	4
PPRC1	23082	broad.mit.edu	37	10	103900434	103900434	+	Silent	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:103900434C>A	ENST00000278070.2	+	5	2208	c.2169C>A	c.(2167-2169)atC>atA	p.I723I	PPRC1_ENST00000413464.2_Silent_p.I723I	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	22	146	0	145	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGACCATCATCCCTGAAGTCA	0.537000													1	1	1	1	1	1	0.999999	22	153	0	153	1	9.758849e-01	15	30	0	153	5
PDCD4	27250	broad.mit.edu	37	10	112650324	112650324	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:112650324G>T	ENST00000393104.2	+	9	1213	c.853G>T	c.(853-855)Gat>Tat	p.D285Y	PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Missense_Mutation_p.D296Y	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	10	69	0	71	296					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			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		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)		AGCTGCTCTGGATAAGGCTAC	0.408000													1	1	1	1	1	1	0.998697	11	77	0	75	1	9.999948e-01	76	118	0	75	5
TACC2	10579	broad.mit.edu	37	10	123844255	123844255	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr10:123844255T>C	ENST00000369005.1	+	4	2580	c.2240T>C	c.(2239-2241)aTg>aCg	p.M747T	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.M747T|TACC2_ENST00000515603.1_Missense_Mutation_p.M747T|TACC2_ENST00000334433.3_Missense_Mutation_p.M747T|TACC2_ENST00000515273.1_Missense_Mutation_p.M747T|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	25	156	0	144	747						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATAAGGAAGATGGGCAGCTGT	0.542000													1	1	1	1	1	1	1.000000	32	173	0	157	0	1.840085e-01	1	4	0	157	5
RRAS2	22800	broad.mit.edu	37	11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	rs113954997		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:14316390T>A	ENST00000545643.1	-	3	546	c.233A>T	c.(232-234)cAa>cTa	p.Q78L	RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000414023.2_5'UTR	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	88	91	0	102	72						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	p.Q72L(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393000													1	1	1	1	1	1	1.000000	92	102	0	110	1	1	78	38	0	110	5
PAMR1	25891	broad.mit.edu	37	11	35454241	35454241	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:35454241C>T	ENST00000378880.2	-	11	2271	c.1826G>A	c.(1825-1827)aGc>aAc	p.S609N	PAMR1_ENST00000378878.3_Missense_Mutation_p.S498N|PAMR1_ENST00000532848.1_Missense_Mutation_p.S569N|PAMR1_ENST00000278360.3_Missense_Mutation_p.S626N	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	11	43	0	56	609	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GAAGCCAGGGCTCCTCACGTC	0.607000													1	1	1	1	1	1	0.999450	12	48	0	58	1	9.764418e-01	12	17	0	58	5
OR9G4	283189	broad.mit.edu	37	11	56510657	56510657	+	Missense_Mutation	SNP	C	C	T	rs147669235		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:56510657C>T	ENST00000302957.3	-	1	630	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	14	58	0	79	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E211K(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGGACTTTTTCGTAGACCCTG	0.438000													1	1	1	1	1	1	0.999967	16	60	0	80	0	0	0	0	0	80	5
DAGLA	747	broad.mit.edu	37	11	61511823	61511823	+	Silent	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:61511823G>C	ENST00000257215.5	+	20	3107	c.2991G>C	c.(2989-2991)tcG>tcC	p.S997S		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	23	90	0	106	997					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCAGCTCCTCGGGTGAGCTCA	0.677000													1	1	1	1	1	1	1.000000	28	99	0	118	1	6.843101e-01	2	8	0	118	5
CWF19L2	143884	broad.mit.edu	37	11	107205621	107205621	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:107205621C>A	ENST00000282251.5	-	16	2452	c.2425G>T	c.(2425-2427)Gat>Tat	p.D809Y		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	31	43	0	81	809							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		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)		TTTCTGATATCTTTTGAAGAG	0.333000													1	1	1	1	1	1	1.000000	34	47	0	99	1	9.999861e-01	8	23	0	99	5
TBCEL	219899	broad.mit.edu	37	11	120925929	120925929	+	Silent	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:120925929C>A	ENST00000422003.2	+	5	812	c.624C>A	c.(622-624)gcC>gcA	p.A208A	TBCEL_ENST00000529397.1_Silent_p.A208A	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	9	43	0	59	208						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		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)		TCGTCCTGGCCAACAATCATT	0.438000													1	1	1	1	1	1	0.995547	9	46	0	63	1	5.298568e-01	2	7	0	63	5
OR8D1	283159	broad.mit.edu	37	11	124180410	124180410	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr11:124180410A>C	ENST00000357821.2	-	1	323	c.253T>G	c.(253-255)Ttc>Gtc	p.F85V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	16	44	0	51	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		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)		TTTCCTAGGAAGTTCACCAGC	0.468000													1	1	1	1	1	1	0.999974	16	44	0	52	0	0	0	0	0	52	5
IRAK4	51135	broad.mit.edu	37	12	44165125	44165125	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:44165125G>C	ENST00000448290.2	+	3	335	c.264G>C	c.(262-264)ttG>ttC	p.L88F	IRAK4_ENST00000551736.1_Missense_Mutation_p.L88F|IRAK4_ENST00000431837.1_Intron|IRAK4_ENST00000440781.2_Intron	NM_016123.3	NP_057207.2	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	11	51	0	34	88	Death.				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					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TGGATCTTTTGATCCAAAATG	0.418000													1	1	1	1	1	1	0.999712	13	56	0	36	1	7.986995e-01	3	6	0	36	5
SENP1	29843	broad.mit.edu	37	12	48468234	48468234	+	Silent	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:48468234G>T	ENST00000004980.5	-	8	1291	c.813C>A	c.(811-813)tcC>tcA	p.S271S	SENP1_ENST00000549595.1_Silent_p.S271S|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Silent_p.S271S|SENP1_ENST00000551330.1_Silent_p.S271S|SENP1_ENST00000448372.1_Silent_p.S271S			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	21	125	0	112	271					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AAGAAGATAGGGAATATACAC	0.433000													1	1	1	1	1	1	0.999999	21	136	0	117	1	9.440857e-01	7	27	0	117	5
KRT18	3875	broad.mit.edu	37	12	53343316	53343316	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:53343316G>A	ENST00000550600.1	+	2	413	c.359G>A	c.(358-360)gGa>gAa	p.G120E	KRT8_ENST00000549198.1_5'UTR|KRT18_ENST00000388837.2_Missense_Mutation_p.G120E|KRT8_ENST00000552551.1_5'UTR|KRT8_ENST00000546897.1_Intron|KRT18_ENST00000388835.3_Missense_Mutation_p.G120E			P05783	K1C18_HUMAN	keratin 18	21	84	0	88	120	Interaction with TRADD.|Linker 1.|Necessary for interaction with PNN.|Rod.				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			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GAGAAGAAGGGACCCCAGGTC	0.587000													1	1	1	1	1	1	1.000000	25	93	0	97	1	1	297	878	0	97	5
SMARCC2	6601	broad.mit.edu	37	12	56568509	56568509	+	Silent	SNP	T	T	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:56568509T>G	ENST00000394023.3	-	16	1527	c.1422A>C	c.(1420-1422)cgA>cgC	p.R474R	SMARCC2_ENST00000347471.4_Silent_p.R474R|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Silent_p.R474R|SMARCC2_ENST00000267064.4_Silent_p.R474R	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	14	147	0	138	474	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			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGGTTCAGTCGGTAAGTGT	0.468000													1	1	1	1	1	1	0.999973	17	168	0	151	1	9.999318e-01	32	134	0	151	5
ARHGEF25	115557	broad.mit.edu	37	12	58010124	58010124	+	Missense_Mutation	SNP	G	G	A	rs116051216	by1000genomes	TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:58010124G>A	ENST00000286494.4	+	14	1938	c.1478G>A	c.(1477-1479)cGg>cAg	p.R493Q	AC025165.8_ENST00000444467.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.R532Q|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000593846.1_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	47	66	0	82	493	Sufficient to bind activated GNAQ.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	p.R493Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AGCCTGGGGCGGCCAAGAGGG	0.592000													1	1	1	1	1	1	1.000000	53	72	0	92	1	1	67	46	0	92	5
AVIL	10677	broad.mit.edu	37	12	58197161	58197161	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:58197161T>C	ENST00000537081.1	-	15	1809	c.1810A>G	c.(1810-1812)Atc>Gtc	p.I604V	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.I611V|AVIL_ENST00000550083.1_5'UTR			O75366	AVIL_HUMAN	advillin	20	155	0	156	611	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ACATCTAGGATTTCCTGCTGA	0.433000											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999998	21	166	0	178	1	9.001137e-01	9	25	0	178	5
MYF6	4618	broad.mit.edu	37	12	81101831	81101831	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:81101831G>C	ENST00000228641.3	+	1	555	c.333G>C	c.(331-333)gaG>gaC	p.E111D		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	6	73	0	110	111	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AAATCAACGAGGCCTTCGAGG	0.587000													1	0	1	1	0	1	0.966779	6	80	0	120	0	0	0	1	0	120	3
ASCL1	429	broad.mit.edu	37	12	103352601	103352601	+	Silent	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:103352601C>A	ENST00000266744.3	+	1	1138	c.579C>A	c.(577-579)atC>atA	p.I193I		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	17	52	0	95	193					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			NS(3)|large_intestine(1)|lung(1)	5						CGCCCACCATCTCCCCCAACT	0.672000													1	1	1	1	1	1	0.999992	18	63	0	106	0	0	0	0	0	106	5
KIAA1033	23325	broad.mit.edu	37	12	105558018	105558018	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr12:105558018C>G	ENST00000332180.5	+	31	3374	c.3287C>G	c.(3286-3288)gCc>gGc	p.A1096G	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	7	32	0	53	1096					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GTACAGTCAGCCAGTCAAGAT	0.433000													1	1	1	1	1	1	0.984007	7	33	0	55	1	9.466105e-01	13	15	0	55	5
RPL21	6144	broad.mit.edu	37	13	27827919	27827919	+	Silent	SNP	G	G	A	rs112351536		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:27827919G>A	ENST00000311549.6	+	2	295	c.6G>A	c.(4-6)acG>acA	p.T2T	RPL21_ENST00000272274.4_Silent_p.T2T|RPL21_ENST00000319826.4_Silent_p.T2T|RPL21_ENST00000326092.4_Silent_p.T2T	NM_000982.3	NP_000973.2	P46778	RL21_HUMAN	ribosomal protein L21	8	39	0	37	2					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		CCAAAATGACGAACACAAAGG	0.418000													1	1	1	1	0	1	0.998895	11	46	0	41	1	9.927748e-01	24	16	0	41	4
FLT1	2321	broad.mit.edu	37	13	28931761	28931761	+	Silent	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:28931761T>C	ENST00000282397.4	-	15	2429	c.2178A>G	c.(2176-2178)gaA>gaG	p.E726E		NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	20	71	0	113	726	Ig-like C2-type 7.				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			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	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)	GATAGACACCTTCATCCTCTT	0.453000													1	1	1	1	1	1	0.999999	21	77	0	123	0	9.135507e-01	0	18	0	123	5
SERTM1	400120	broad.mit.edu	37	13	37269482	37269482	+	Silent	SNP	T	T	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:37269482T>C	ENST00000315190.3	+	2	713	c.267T>C	c.(265-267)aaT>aaC	p.N89N		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	23	66	0	80	89						integral to membrane											CTTTCACCAATTTGGAAGTCT	0.453000													1	1	1	1	1	1	1.000000	26	74	0	88	1	8.774089e-01	5	8	0	88	5
VWA8	23078	broad.mit.edu	37	13	42293839	42293839	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:42293839C>T	ENST00000379310.3	-	26	3072	c.3004G>A	c.(3004-3006)Gtg>Atg	p.V1002M	VWA8_ENST00000281496.6_Missense_Mutation_p.V1002M	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8	5	21	0	43																		AAGTCAAACACATTTCGAACT	0.343000													1	0	1	1	1	1	0.970736	6	23	0	47	1	7.043721e-01	5	6	0	47	4
EDNRB	1910	broad.mit.edu	37	13	78475270	78475270	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr13:78475270A>C	ENST00000377211.4	-	5	1296	c.1144T>G	c.(1144-1146)Ttt>Gtt	p.F382V	EDNRB_ENST00000446573.1_Missense_Mutation_p.F292V|EDNRB_ENST00000334286.5_Missense_Mutation_p.F292V	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	4	34	0	51	292					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			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AGTGTATAAAAAAATGCAGTG	0.338000													0	1	1	0	0	1	0.893546	4	39	0	54	0	1.859218e-01	0	7	0	54	2
APEX1	328	broad.mit.edu	37	14	20925652	20925652	+	Silent	SNP	A	A	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr14:20925652A>T	ENST00000216714.3	+	5	1210	c.942A>T	c.(940-942)ctA>ctT	p.L314L	APEX1_ENST00000555414.1_Silent_p.L314L|APEX1_ENST00000398030.4_Silent_p.L314L|APEX1_ENST00000557054.1_3'UTR	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	12	154	0	185	314	Mitochondrial targeting sequence (MTS).				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	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)	Lucanthone(DB04967)	CTATCACCCTATACCTAGCAC	0.473000								Other BER factors					1	1	1	1	0	1	0.999789	14	179	0	208	1	9.999984e-01	30	316	0	208	4
OTUD7A	161725	broad.mit.edu	37	15	31776314	31776314	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr15:31776314C>A	ENST00000382902.1	-	11	2077	c.1985G>T	c.(1984-1986)gGc>gTc	p.G662V	OTUD7A_ENST00000307050.4_Missense_Mutation_p.G655V			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	4	15	0	28	655						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		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)		CAGGTAGTAGCCGATCATCTC	0.721000													1	0	1	1	0	1	0.972020	6	18	0	34	0	0	0	0	0	34	3
MMP25	64386	broad.mit.edu	37	16	3107137	3107137	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:3107137C>A	ENST00000336577.4	+	5	1002	c.765C>A	c.(763-765)taC>taA	p.Y255*	RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	66	164	0	246	255					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						GGCCCTTCTACCAGGGTCCGG	0.642000													1	1	1	1	0	1	1.000000	70	186	0	265	1	1.865466e-01	2	1	0	265	4
RBBP6	5930	broad.mit.edu	37	16	24581363	24581363	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:24581363G>A	ENST00000319715.4	+	17	3784	c.3352G>A	c.(3352-3354)Gtc>Atc	p.V1118I	RBBP6_ENST00000348022.2_Missense_Mutation_p.V1084I|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	5	19	0	33	1118	Interaction with RB1 (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			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTCCAAAGATGTCAAATCAGA	0.363000													1	0	1	1	1	1	0.944039	5	22	0	34	1	9.312162e-01	8	17	0	34	4
SIAH1	6477	broad.mit.edu	37	16	48395562	48395562	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:48395562C>G	ENST00000380006.2	-	1	2231	c.778G>C	c.(778-780)Gac>Cac	p.D260H	SIAH1_ENST00000356721.3_Missense_Mutation_p.D291H|LONP2_ENST00000564259.1_3'UTR|SIAH1_ENST00000394725.2_Missense_Mutation_p.D260H			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	11	30	0	40	260	SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				ATGCTGGTGTCAAAGACTAGA	0.418000													1	1	1	1	1	1	0.999566	12	31	0	41	1	9.999961e-01	27	53	0	41	5
SLC12A3	0	broad.mit.edu	37	16	56918049	56918049	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:56918049G>C	ENST00000438926.2	+	14	1787	c.1758G>C	c.(1756-1758)tgG>tgC	p.W586C	SLC12A3_ENST00000563236.1_Missense_Mutation_p.W586C|SLC12A3_ENST00000262502.5_Missense_Mutation_p.W585C|SLC12A3_ENST00000566786.1_Missense_Mutation_p.W585C	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	10	63	0	92	586					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTCACCTGGTGGGCGGCCC	0.602000													1	1	1	1	1	1	0.998735	11	69	0	100	0	0	0	0	0	100	5
GPR97	222487	broad.mit.edu	37	16	57717867	57717867	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:57717867C>G	ENST00000333493.4	+	9	1066	c.905C>G	c.(904-906)tCa>tGa	p.S302*	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Nonsense_Mutation_p.S92*|GPR97_ENST00000450388.3_Nonsense_Mutation_p.S182*	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	13	49	0	96	302					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGGTTCAAGTCAGAAGATGCC	0.597000													1	1	1	1	1	1	0.999858	14	58	0	102	0	4.324324e-02	0	2	0	102	5
ZFP90	146198	broad.mit.edu	37	16	68597927	68597927	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:68597927A>G	ENST00000570495.1	+	5	1529	c.1237A>G	c.(1237-1239)Atg>Gtg	p.M413V	ZFP90_ENST00000563169.2_Missense_Mutation_p.M413V|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.M413V			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	13	67	0	72	413					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TTATAAACATATGAGGATTCA	0.428000													1	1	1	1	0	1	0.999683	13	70	0	76	1	7.101447e-01	7	8	0	76	4
PDPR	55066	broad.mit.edu	37	16	70187451	70187451	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr16:70187451G>T	ENST00000288050.4	+	18	3167	c.2210G>T	c.(2209-2211)cGa>cTa	p.R737L	PDPR_ENST00000562100.1_Intron|PDPR_ENST00000542659.1_Missense_Mutation_p.R82L|PDPR_ENST00000398122.3_Missense_Mutation_p.R637L|PDPR_ENST00000568530.1_Missense_Mutation_p.R737L|PDPR_ENST00000567046.1_Missense_Mutation_p.R95L	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	3	23	0	28	737					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GAATGTGGACGAGAGTCTCGG	0.473000													0	0	1	1	1	1	0.895102	4	25	0	31	1	9.486850e-01	9	30	0	31	3
SLC16A11	162515	broad.mit.edu	37	17	6946803	6946803	+	Silent	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:6946803A>G	ENST00000308009.1	-	1	439	c.102T>C	c.(100-102)gaT>gaC	p.D34D	SLC16A11_ENST00000447225.1_Silent_p.D10D	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	6	26	0	37	34						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						CCCAGCCCCCATCCGGGGGTC	0.706000													1	1	1	1	0	1	0.984634	7	27	0	40	0	0	0	0	0	40	4
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	35	33	0	83	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	39	38	0	92	1	1	220	6	0	92	5
C17orf59	54785	broad.mit.edu	37	17	8092945	8092945	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:8092945G>A	ENST00000389017.4	-	1	619	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L		NM_017622.2	NP_060092.2	Q96GS4	CQ059_HUMAN	chromosome 17 open reading frame 59	12	28	0	40	172										large_intestine(2)|lung(3)|urinary_tract(1)	6						GCCTCGCTCAGCCCGTCCAGG	0.736000													1	1	1	1	0	1	0.999557	12	32	0	40	1	9.407016e-01	3	12	0	40	4
CCL13	6357	broad.mit.edu	37	17	32685137	32685137	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:32685137C>G	ENST00000225844.2	+	3	359	c.284C>G	c.(283-285)aCc>aGc	p.T95S		NM_005408.2	NP_005399.1	Q99616	CCL13_HUMAN	chemokine (C-C motif) ligand 13	11	51	0	62	95				AHTLKT -> LTP (in Ref. 12; CAB01111).	cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				AAAGCTCACACCCTGAAGACT	0.483000													1	0	1	1	0	1	0.999417	12	55	0	67	1	9.822538e-01	2	33	0	67	3
CYTH1	9267	broad.mit.edu	37	17	76694918	76694918	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr17:76694918G>A	ENST00000589297.1	-	8	1198	c.506C>T	c.(505-507)cCg>cTg	p.P169L	CYTH1_ENST00000361101.4_Missense_Mutation_p.P228L|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Missense_Mutation_p.P228L|CYTH1_ENST00000591455.1_Missense_Mutation_p.P228L|CYTH1_ENST00000585509.1_Missense_Mutation_p.P169L			Q15438	CYH1_HUMAN	cytohesin 1	75	194	0	230	228	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						GAGCTCCTCCGGCAGGTCTCC	0.483000													1	1	1	1	1	1	1.000000	81	209	0	246	1	9.999691e-01	17	26	0	246	5
NAPG	8774	broad.mit.edu	37	18	10540013	10540013	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr18:10540013G>A	ENST00000322897.6	+	7	466	c.397G>A	c.(397-399)Gct>Act	p.A133T	NAPG_ENST00000542979.1_Missense_Mutation_p.A51T	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	6	11	0	14	133					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						TCCAGAGAAGGCTGTACAGTT	0.289000													0	1	1	0	1	1	0.988321	7	11	0	16	1	9.983791e-01	14	14	0	16	3
ACTL9	284382	broad.mit.edu	37	19	8807988	8807988	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:8807988C>T	ENST00000324436.3	-	1	1184	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	26	72	0	110	355						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGCTCTGCCCGGAAGCGACC	0.652000													1	1	1	1	0	1	1.000000	30	80	0	117	0	0	0	0	0	117	4
MUC16	94025	broad.mit.edu	37	19	9064668	9064668	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:9064668G>C	ENST00000397910.4	-	3	22981	c.22778C>G	c.(22777-22779)tCc>tGc	p.S7593C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14	88	0	102	7595	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACATTGTGGACTGCTCAGG	0.483000													1	1	1	1	1	1	0.999913	15	92	0	108	0	0	0	1	0	108	5
CCDC159	126075	broad.mit.edu	37	19	11462749	11462749	+	Silent	SNP	G	G	A			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:11462749G>A	ENST00000588790.1	+	9	954	c.507G>A	c.(505-507)gaG>gaA	p.E169E	CCDC159_ENST00000458408.1_Silent_p.E169E			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159	11	61	0	93	284										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						AGGAGGATGAGATCTCAGAGA	0.582000													1	1	1	1	1	1	0.998756	11	65	0	98	1	9.911028e-01	21	31	0	98	5
FARSA	2193	broad.mit.edu	37	19	13039265	13039265	+	Silent	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:13039265G>T	ENST00000588025.1	-	8	992	c.852C>A	c.(850-852)acC>acA	p.T284T	FARSA_ENST00000314606.4_Silent_p.T244T|FARSA_ENST00000423140.2_Silent_p.T213T			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	25	62	0	85	244					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TCGGCATCTCGGTGAACCTGG	0.607000													1	1	1	1	1	1	1.000000	28	70	0	91	1	1	163	71	0	91	5
LPHN1	22859	broad.mit.edu	37	19	14261831	14261831	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:14261831G>C	ENST00000340736.6	-	24	4576	c.4279C>G	c.(4279-4281)Cgc>Ggc	p.R1427G	LPHN1_ENST00000361434.3_Missense_Mutation_p.R1422G|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	3	12	0	12	1427					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCTGGCGGGCGCGAGGTGTAG	0.731000													0	0	1	0	0	1	0.813480	3	13	0	13	1	9.978488e-01	13	72	0	13	1
NOVA2	4858	broad.mit.edu	37	19	46443289	46443289	+	Silent	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:46443289G>T	ENST00000263257.5	-	4	1505	c.1311C>A	c.(1309-1311)ggC>ggA	p.G437G		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	41	159	0	248	437	KH 3.					nucleus	RNA binding	p.G437G(1)		endometrium(3)|large_intestine(5)|lung(13)	21		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)		GGATGCGAGCGCCCGTCAGCT	0.662000													1	1	1	1	1	1	1.000000	47	181	0	267	0	1.137250e-01	0	3	0	267	5
PPP2R1A	5518	broad.mit.edu	37	19	52716323	52716323	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:52716323C>T	ENST00000322088.6	+	6	825	c.767C>T	c.(766-768)tCc>tTc	p.S256F	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S77F|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S201F	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	13	38	0	59	256	PP2A subunit B binding.|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	p.S256F(11)|p.S256Y(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAAGACAAGTCCTGGCGCGTC	0.617000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	0.999885	14	41	0	67	1	1	277	274	0	67	5
ZFP28	140612	broad.mit.edu	37	19	57065752	57065752	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr19:57065752A>T	ENST00000301318.3	+	8	1669	c.1598A>T	c.(1597-1599)tAc>tTc	p.Y533F	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	5	41	0	58	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GAGAAACCTTACAAATGTGAT	0.418000													1	0	1	1	1	1	0.941063	5	43	0	60	0	0	0	0	0	60	4
UQCC	0	broad.mit.edu	37	20	33971845	33971845	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr20:33971845C>T	ENST00000397554.1	-	3	231	c.221G>A	c.(220-222)cGt>cAt	p.R74H	UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000374385.5_Missense_Mutation_p.R74H|UQCC_ENST00000349714.5_Missense_Mutation_p.R74H|UQCC_ENST00000374377.5_Intron|UQCC_ENST00000374380.2_Intron|UQCC_ENST00000374384.2_Missense_Mutation_p.R74H|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000397556.3_Intron|UQCC_ENST00000407996.2_Splice_Site|UQCC_ENST00000542501.1_Missense_Mutation_p.R74H|UQCC_ENST00000359226.2_Missense_Mutation_p.R74H			Q9NVA1	UQCC_HUMAN		8	24	0	41	74						cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCTCACCTTACGTGTGGTGTG	0.433000													1	1	1	1	1	1	0.992313	8	27	0	48	1	9.939846e-01	17	20	0	48	5
TSHZ2	128553	broad.mit.edu	37	20	51871857	51871857	+	Missense_Mutation	SNP	C	C	G	rs143642849		TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr20:51871857C>G	ENST00000371497.5	+	2	2747	c.1860C>G	c.(1858-1860)caC>caG	p.H620Q	TSHZ2_ENST00000329613.6_Missense_Mutation_p.H617Q|TSHZ2_ENST00000603338.2_Missense_Mutation_p.H617Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	35	113	0	179	620					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAGTCCCCACGAAGAGGCCT	0.517000													1	1	1	1	1	1	1.000000	37	124	0	193	1	5.089996e-01	2	5	0	193	5
SON	6651	broad.mit.edu	37	21	34926321	34926321	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr21:34926321C>T	ENST00000356577.4	+	3	5259	c.4784C>T	c.(4783-4785)tCt>tTt	p.S1595F	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.S1595F|SON_ENST00000300278.4_Missense_Mutation_p.S1595F|SON_ENST00000381679.4_Missense_Mutation_p.S1595F	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	26	64	0	73	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			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ACTCTATCTTCTACTGGTCCT	0.413000													1	1	1	1	1	1	1.000000	30	67	0	78	1	1	63	64	0	78	5
PIWIL3	440822	broad.mit.edu	37	22	25153946	25153946	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr22:25153946A>G	ENST00000332271.5	-	4	700	c.284T>C	c.(283-285)aTt>aCt	p.I95T	PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	86	155	0	265	95					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AACTCCACCAATCCTTCTCTC	0.438000													1	1	1	1	1	1	1.000000	103	179	0	298	0	0	0	0	0	298	5
XPNPEP3	63929	broad.mit.edu	37	22	41320470	41320470	+	Silent	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr22:41320470A>C	ENST00000357137.4	+	9	1425	c.1341A>C	c.(1339-1341)gtA>gtC	p.V447V	XPNPEP3_ENST00000544094.1_Silent_p.V424V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	9	31	0	45	447					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						CTGGGATGGTAATCACAATTG	0.473000													1	1	1	1	1	1	0.995956	9	33	0	48	1	6.729976e-01	5	5	0	48	5
TLR7	51284	broad.mit.edu	37	X	12903969	12903969	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrX:12903969G>T	ENST00000380659.3	+	3	481	c.342G>T	c.(340-342)aaG>aaT	p.K114N		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	39	80	0	227	114					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			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TGTGCATCAAGAGGCTGCAGA	0.478000													1	1	1	1	1	1	1.000000	42	92	0	254	0	0	0	0	0	254	5
PHKA2	5256	broad.mit.edu	37	X	18972448	18972448	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrX:18972448A>C	ENST00000379942.4	-	2	826	c.161T>G	c.(160-162)gTg>gGg	p.V54G		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	27	47	0	117	54					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					CAGGCCCCACACGGCCAGGAT	0.567000													1	1	1	1	1	1	1.000000	28	48	0	132	1	9.217455e-01	10	0	0	132	5
NSDHL	50814	broad.mit.edu	37	X	152037350	152037350	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chrX:152037350A>C	ENST00000370274.3	+	8	1006	c.812A>C	c.(811-813)gAg>gCg	p.E271A	NSDHL_ENST00000440023.1_Missense_Mutation_p.E271A	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	22	217	0	312	271					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			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	ACCAATGATGAGCCCATCCCT	0.532000													1	1	1	1	1	1	1.000000	28	245	0	343	1	9.913940e-01	9	59	0	343	5
ADAM30	11085	broad.mit.edu	37	1	120438214	120438234	+	In_Frame_Del	DEL	TGTATCCTCATACGAACATCT	TGTATCCTCATACGAACATCT	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:120438214_120438234delTGTATCCTCATACGAACATCT	ENST00000369400.1	-	1	884_904	c.726_746delAGATGTTCGTATGAGGATACA	c.(724-747)cac>ca	p.QDVRMRIH242del		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	6	45	0	86	242	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	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)		AGCCTTTAAGTGTATCCTCATACGAACATCTTGAAAGTAGG	0.344000													1	0	1	1	0	1	0.983479	7	40	0	83							3
GPR52	9293	broad.mit.edu	37	1	174417869	174417872	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr1:174417869_174417872delTTGT	ENST00000367685.2	+	1	658_661	c.620_623delTTGT	c.(619-624)atfs	p.IV207fs	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	33	228	0	228	207						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						ACTGGCTTTATTGTTTGTTTACTT	0.431000													1	0	1	1	0	1	1.000000	33	254	0	227	0	4.596822e-01	0	13	0	227	3
TTN	7273	broad.mit.edu	37	2	179410991	179410998	+	Frame_Shift_Del	DEL	TGTTAAAG	TGTTAAAG	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr2:179410991_179410998delTGTTAAAG	ENST00000589042.1	-	342	95284_95291	c.95060_95067delCTTTAACA	c.(95059-95067)afs	p.TLT31687fs	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.TLT30046fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.TLT29119fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.TLT22622fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.TLT22814fs|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.TLT22747fs|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6	253	0	253	30046	Fibronectin type-III 130.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTTTTCACTGTTAAAGTGTATTTTCC	0.428000													1	0	0	1	0	1	0.989709	8	235	0	256	0	1.493280e-03	0	2	0	256	2
TBXAS1	6916	broad.mit.edu	37	7	139717541	139717550	+	Frame_Shift_Del	DEL	TGCCTCGGGG	TGCCTCGGGG	-			TCGA-N8-A4PP-01A-11D-A28R-08	TCGA-N8-A4PP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e6eb56d-1825-41f7-93fe-665c0bac1c15	db457003-170c-4835-8f37-a73bb4da8189	g.chr7:139717541_139717550delTGCCTCGGGG	ENST00000263552.6	+	16	1976_1985	c.1438_1447delTGCCTCGGGG	c.(1438-1449)tgfs	p.CLGV480fs	TBXAS1_ENST00000436047.2_Frame_Shift_Del_p.CLGV480fs|TBXAS1_ENST00000425687.1_Frame_Shift_Del_p.CLGV412fs|TBXAS1_ENST00000414508.2_Intron|TBXAS1_ENST00000411653.1_Intron|TBXAS1_ENST00000416849.2_Frame_Shift_Del_p.CLGV526fs|TBXAS1_ENST00000458722.1_Frame_Shift_Del_p.CLGV525fs|TBXAS1_ENST00000336425.5_Frame_Shift_Del_p.CLGV479fs|TBXAS1_ENST00000448866.1_Frame_Shift_Del_p.CLGV479fs	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	13	106	0	144	479					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			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCCACGGAGCTGCCTCGGGGTGCGTCTAGG	0.681000													1	0	1	1	0	1	0.999614	13	134	0	151	0	6.072512e-01	0	22	0	151	3
MEGF6	1953	broad.mit.edu	37	1	3418372	3418372	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:3418372C>A	ENST00000356575.4	-	18	2528	c.2302G>T	c.(2302-2304)Gac>Tac	p.D768Y	MEGF6_ENST00000294599.4_Missense_Mutation_p.D663Y	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	12	22	0	35	768	EGF-like 12.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	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)		GCCTCACAGTCTTCCCCAGTC	0.711000													1	1	1	1	1	1	0.999660	12	22	0	36	1	9.994935e-01	6	26	0	36	5
C1orf177	163747	broad.mit.edu	37	1	55277787	55277787	+	Silent	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:55277787C>A	ENST00000358193.3	+	6	741	c.687C>A	c.(685-687)gtC>gtA	p.V229V	C1orf177_ENST00000371273.3_Silent_p.V229V	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	20	67	0	121	229										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						CACGATCCGTCGGCACCCGCG	0.587000													1	1	1	1	1	1	0.999998	20	74	0	131	0	0	0	0	0	131	5
CD1D	912	broad.mit.edu	37	1	158152703	158152703	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:158152703C>A	ENST00000368171.3	+	5	1142	c.643C>A	c.(643-645)Cct>Act	p.P215T		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	20	65	0	106	215	Ig-like.				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			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGGCCCCAGTCCTGGCCCTGG	0.592000													1	1	1	1	1	1	0.999999	21	68	0	116	0	6.043956e-02	0	2	0	116	5
MTR	4548	broad.mit.edu	37	1	237016332	237016332	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr1:237016332G>T	ENST00000366577.5	+	18	2291	c.1897G>T	c.(1897-1899)Gat>Tat	p.D633Y	MTR_ENST00000535889.1_Missense_Mutation_p.D633Y	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	14	46	0	57	633					nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	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)	GCTCTGTGAAGATCTCATCTG	0.438000													1	1	1	1	1	1	0.999940	15	48	0	63	0	3.592315e-01	0	5	0	63	5
FAM49A	81553	broad.mit.edu	37	2	16742751	16742751	+	Silent	SNP	G	G	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr2:16742751G>T	ENST00000381323.3	-	7	706	c.486C>A	c.(484-486)atC>atA	p.I162I	FAM49A_ENST00000406434.1_Silent_p.I162I|FAM49A_ENST00000355549.2_Silent_p.I162I	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	9	42	0	37	162						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GGTTGCGACTGATTGTTCTTC	0.493000													1	1	1	1	1	1	0.999440	12	50	0	44	1	9.903881e-01	4	33	0	44	5
RDH14	57665	broad.mit.edu	37	2	18736500	18736500	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr2:18736500T>G	ENST00000381249.3	-	2	1075	c.968A>C	c.(967-969)aAa>aCa	p.K323T	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1			retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	33	71	0	116											breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)					ATCCCAGAGTTTTCTTGCAAC	0.413000													1	1	1	1	1	1	1.000000	33	77	0	123	1	1	44	86	0	123	5
WDR43	23160	broad.mit.edu	37	2	29158461	29158461	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr2:29158461G>A	ENST00000407426.3	+	12	1568	c.1512G>A	c.(1510-1512)ccG>ccA	p.P504P		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	12	31	0	51	504						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					CTATTATTCCGTTGTTACAAG	0.323000													1	1	1	1	1	1	0.999794	13	32	0	56	1	9.999997e-01	41	55	0	56	5
DYSF	8291	broad.mit.edu	37	2	71780304	71780304	+	Missense_Mutation	SNP	G	G	C	rs150417363		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr2:71780304G>C	ENST00000258104.3	+	20	2193	c.1916G>C	c.(1915-1917)cGt>cCt	p.R639P	DYSF_ENST00000409582.3_Missense_Mutation_p.R656P|DYSF_ENST00000413539.2_Missense_Mutation_p.R670P|DYSF_ENST00000409651.1_Missense_Mutation_p.R671P|DYSF_ENST00000410041.1_Missense_Mutation_p.R657P|DYSF_ENST00000409366.1_Missense_Mutation_p.R640P|DYSF_ENST00000410020.3_Missense_Mutation_p.R657P|DYSF_ENST00000394120.2_Missense_Mutation_p.R640P|DYSF_ENST00000409744.1_Missense_Mutation_p.R626P|DYSF_ENST00000429174.2_Missense_Mutation_p.R639P|DYSF_ENST00000409762.1_Missense_Mutation_p.R656P	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	10	113	0	122	639						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGTACAGCCGTGCAGTCTTT	0.582000													1	0	1	1	0	1	0.998562	11	124	0	128	1	3.785744e-01	3	12	0	128	3
CNTN4	152330	broad.mit.edu	37	3	3076369	3076369	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr3:3076369G>A	ENST00000397461.1	+	16	2221	c.1837G>A	c.(1837-1839)Gct>Act	p.A613T	CNTN4_ENST00000358480.3_Missense_Mutation_p.A394T|CNTN4_ENST00000448906.2_Missense_Mutation_p.A285T|CNTN4_ENST00000427331.1_Missense_Mutation_p.A613T|CNTN4_ENST00000418658.1_Missense_Mutation_p.A613T|CNTN4_ENST00000397459.2_Missense_Mutation_p.A285T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	25	38	0	60	613	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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGATACCACTGCTCAGCTCTC	0.552000													1	1	1	1	1	1	1.000000	26	43	0	63	1	7.245617e-01	2	4	0	63	5
GTDC2	0	broad.mit.edu	37	3	43121435	43121435	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr3:43121435C>T	ENST00000344697.2	-	2	1834	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T	GTDC2_ENST00000441964.1_Missense_Mutation_p.A497T	NM_032806.4	NP_116195.2				5	43	0	51																		GCCTCGGAGGCGCCATGCACT	0.632000													1	1	0	1	0	1	0.940427	5	53	0	53	0	9.930426e-01	1	112	0	53	3
ZKSCAN7	55888	broad.mit.edu	37	3	44611529	44611529	+	Silent	SNP	A	A	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr3:44611529A>T	ENST00000273320.3	+	6	1356	c.927A>T	c.(925-927)gcA>gcT	p.A309A	ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Silent_p.A309A	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7	28	116	1	136																		CTGGGGCAGCAGAGACTGGAG	0.438000													1	0	1	1	1	1	0.999996	29	129	1	149	0	0	0	1	1	149	4
CNTN3	5067	broad.mit.edu	37	3	74411041	74411041	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr3:74411041C>T	ENST00000263665.6	-	10	1391	c.1364_splice	c.e10+1	p.R455_splice		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	27	21	0	44	455	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		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)		ATCAAAATACCTTTCATGCTC	0.448000													1	0	1	1	1	1	1.000000	29	23	0	48	1	9.999078e-01	16	2	0	48	4
UGDH	7358	broad.mit.edu	37	4	39506922	39506922	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:39506922G>C	ENST00000316423.6	-	9	1448	c.1106C>G	c.(1105-1107)cCa>cGa	p.P369R	UGDH_ENST00000507089.1_Missense_Mutation_p.P272R|UGDH_ENST00000501493.2_Missense_Mutation_p.P302R|UGDH_ENST00000506179.1_Missense_Mutation_p.P369R	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	11	37	0	55	369					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			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	AGGTACTTTTGGATCATATAT	0.348000													1	1	1	1	1	1	0.999511	12	38	0	56	1	9.999926e-01	26	62	0	56	5
GRXCR1	389207	broad.mit.edu	37	4	42895339	42895339	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:42895339G>A	ENST00000399770.2	+	1	56	c.56G>A	c.(55-57)cGg>cAg	p.R19Q		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	19	105	0	132	19					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			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GTCCGGTTTCGGATCGCGTCC	0.512000													1	1	1	1	1	1	0.999995	19	108	0	133	1	2.504472e-02	2	0	0	133	5
KIAA1211	57482	broad.mit.edu	37	4	57193840	57193840	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:57193840C>T	ENST00000504228.1	+	9	3677	c.3572C>T	c.(3571-3573)cCg>cTg	p.P1191L	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P1184L|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P1191L			Q6ZU35	K1211_HUMAN	KIAA1211	61	76	0	176	1191										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCCCCAGCGCCGCTGGTAAAA	0.483000													1	1	1	1	1	1	1.000000	66	84	0	195	1	9.999235e-01	16	7	0	195	5
ANXA10	11199	broad.mit.edu	37	4	169049237	169049237	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:169049237G>A	ENST00000359299.3	+	2	207	c.21G>A	c.(19-21)gtG>gtA	p.V7V		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	10	15	0	30	7							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CCCACCAGGTGCAAGGAACCA	0.433000													1	1	1	1	1	1	0.999379	11	17	0	33	0	0	0	0	0	33	5
TAS2R1	50834	broad.mit.edu	37	5	9630016	9630016	+	Silent	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:9630016C>T	ENST00000382492.2	-	1	447	c.129G>A	c.(127-129)ccG>ccA	p.P43P	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	8	72	0	58	43					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GGAGATCCAGCGGAGCCATTT	0.378000													1	0	1	1	1	1	0.990553	8	76	0	61	0	0	0	0	0	61	4
LNPEP	4012	broad.mit.edu	37	5	96360368	96360368	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:96360368A>G	ENST00000231368.5	+	15	3397	c.2705A>G	c.(2704-2706)gAt>gGt	p.D902G	LNPEP_ENST00000395770.3_Missense_Mutation_p.D888G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	11	20	0	45	902					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		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)		AGCTCAGAGGATGTGCGGAAG	0.408000													1	1	1	1	1	1	0.999648	12	23	0	46	0	7.451890e-01	1	6	0	46	5
MATR3	9782	broad.mit.edu	37	5	138643467	138643467	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:138643467C>G	ENST00000394800.2	+	6	912	c.363C>G	c.(361-363)gaC>gaG	p.D121E	MATR3_ENST00000504203.1_Intron|MATR3_ENST00000510056.1_Missense_Mutation_p.D121E|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.D121E|MATR3_ENST00000502929.1_Missense_Mutation_p.D121E|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000394805.3_Missense_Mutation_p.D121E|MATR3_ENST00000361059.2_Missense_Mutation_p.D121E			P43243	MATR3_HUMAN	matrin 3	9	52	0	52	121						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGCTAGAGACTTAGATGAAC	0.463000													1	1	1	1	1	1	0.995357	9	55	0	53	1	9.999978e-01	57	159	0	53	5
GABRA1	2554	broad.mit.edu	37	5	161318010	161318010	+	Silent	SNP	C	C	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr5:161318010C>G	ENST00000428797.2	+	9	1165	c.810C>G	c.(808-810)gtC>gtG	p.V270V	GABRA1_ENST00000393943.4_Silent_p.V270V|GABRA1_ENST00000444819.1_Silent_p.V270V|GABRA1_ENST00000023897.6_Silent_p.V270V|GABRA1_ENST00000420560.1_Silent_p.V270V|GABRA1_ENST00000437025.2_Silent_p.V270V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	61	10	0	62	270					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			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	TCTCACAAGTCTCCTTCTGGC	0.408000													1	1	1	1	1	1	1.000000	63	10	0	65	0	0	0	0	0	65	5
SERPINB9	5272	broad.mit.edu	37	6	2893765	2893765	+	Silent	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr6:2893765C>T	ENST00000380698.4	-	5	536	c.447G>A	c.(445-447)ccG>ccA	p.P149P		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	39	13	0	65	149					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			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TTGAGCTACCCGGCAACAACT	0.393000													1	1	1	1	1	1	1.000000	40	14	0	69	1	1	3	19	0	69	5
BTNL2	56244	broad.mit.edu	37	6	32362585	32362585	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr6:32362585G>T	ENST00000454136.3	-	6	1300	c.1296C>A	c.(1294-1296)gaC>gaA	p.D432E	BTNL2_ENST00000414363.1_Missense_Mutation_p.D222E|BTNL2_ENST00000374995.3_Missense_Mutation_p.D338E|BTNL2_ENST00000374993.1_Missense_Mutation_p.D432E|BTNL2_ENST00000544175.1_Missense_Mutation_p.D155E|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000540315.1_Missense_Mutation_p.D222E			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	14	78	0	108	432						integral to membrane		p.D432D(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						AACAAGTGACGTCCACAGCGG	0.498000													1	1	1	1	1	1	0.999918	15	81	0	118	0	0	0	0	0	118	5
PTCHD4	442213	broad.mit.edu	37	6	47847228	47847228	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr6:47847228C>T	ENST00000339488.4	-	3	1385	c.1352G>A	c.(1351-1353)cGt>cAt	p.R451H		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	12	30	0	71	451						integral to membrane	hedgehog receptor activity										ATAATGTTCACGGAGGAAGTG	0.448000													1	1	1	1	1	1	0.999905	14	32	0	74	0	0	0	0	0	74	5
HIVEP2	3097	broad.mit.edu	37	6	143091566	143091566	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr6:143091566C>T	ENST00000367603.2	-	5	5052	c.4310G>A	c.(4309-4311)gGt>gAt	p.G1437D	HIVEP2_ENST00000367604.1_Missense_Mutation_p.G1437D|HIVEP2_ENST00000012134.2_Missense_Mutation_p.G1437D	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	26	33	0	68	1437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCGCTTGCTACCTCCCAGGGT	0.512000													1	1	1	1	1	1	1.000000	28	37	0	70	1	9.984105e-01	8	10	0	70	5
USP42	84132	broad.mit.edu	37	7	6175578	6175578	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr7:6175578G>A	ENST00000306177.5	+	4	707	c.549G>A	c.(547-549)atG>atA	p.M183I		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	8	12	0	20	183					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TCAATGAGATGCGGCGTAAGT	0.348000													0	0	1	1	1	1	0.994442	8	12	0	21	1	9.886839e-01	8	9	0	21	3
KDELR2	0	broad.mit.edu	37	7	6509337	6509337	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr7:6509337T>G	ENST00000258739.4	-	3	425	c.241A>C	c.(241-243)Aaa>Caa	p.K81Q	KDELR2_ENST00000490996.1_Missense_Mutation_p.K81Q|KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000436575.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	21	66	0	64	81					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GCCTTAAATTTCAGGTAGATC	0.443000													1	1	1	1	1	1	1.000000	22	70	0	65	1	1	169	635	0	65	5
FZD1	8321	broad.mit.edu	37	7	90895680	90895680	+	Silent	SNP	C	C	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr7:90895680C>G	ENST00000287934.2	+	1	1898	c.1485C>G	c.(1483-1485)ctC>ctG	p.L495L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	74	100	0	255	495					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			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	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)			TGGCGCCCCTCTTCGTGTACC	0.622000													1	1	1	1	1	1	1.000000	77	113	0	280	1	1	33	38	0	280	5
CPA4	51200	broad.mit.edu	37	7	129950692	129950692	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr7:129950692G>C	ENST00000222482.4	+	9	887	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	CPA4_ENST00000445470.2_Missense_Mutation_p.E254Q|CPA4_ENST00000493259.1_Missense_Mutation_p.E183Q	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	26	71	0	148	287					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TTCGGAAGTGGAGGTGAAATC	0.493000													1	1	1	1	1	1	1.000000	29	72	0	160	1	8.681852e-02	2	0	0	160	5
TRHR	7201	broad.mit.edu	37	8	110131681	110131681	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr8:110131681T>A	ENST00000518632.1	+	3	1545	c.1194T>A	c.(1192-1194)agT>agA	p.S398R	TRHR_ENST00000311762.2_Missense_Mutation_p.S398R			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	12	80	0	49	398						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TTAGCCAAAGTTGATTCATGA	0.403000													1	1	1	1	1	1	0.999320	12	86	0	51	0	0	0	0	0	51	5
CYP11B2	1585	broad.mit.edu	37	8	143996607	143996607	+	Silent	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr8:143996607C>A	ENST00000323110.2	-	3	452	c.450G>T	c.(448-450)tcG>tcT	p.S150S		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	7	71	0	37	150					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			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	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)	CGGCCTTGGGCGACAGCACAT	0.637000									Familial Hyperaldosteronism type I				1	1	1	1	0	1	0.982129	7	78	0	39	0	0	0	0	0	39	4
KIAA1045	23349	broad.mit.edu	37	9	34978096	34978096	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr9:34978096G>A	ENST00000242315.3	+	8	1273	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K	KIAA1045_ENST00000544237.1_Silent_p.K397K|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	14	78	0	92	397							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTCACCTGAAGCCCCCAGGAT	0.557000													1	1	1	1	0	1	0.999918	15	80	0	100	0	0	0	1	0	100	4
LARP4B	23185	broad.mit.edu	37	10	909780	909780	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:909780G>A	ENST00000316157.3	-	4	373	c.333C>T	c.(331-333)gcC>gcT	p.A111A		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	49	48	0	85	111							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTGGCAATGCGGCATTCTCAT	0.507000													1	1	1	1	1	1	1.000000	51	51	0	92	1	9.999943e-01	12	13	0	92	5
AKR1E2	83592	broad.mit.edu	37	10	4877922	4877922	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:4877922A>T	ENST00000298375.7	+	4	451	c.380A>T	c.(379-381)cAt>cTt	p.H127L	AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.H127L|AKR1E2_ENST00000532248.1_Missense_Mutation_p.H127L|AKR1E2_ENST00000334019.4_Missense_Mutation_p.H127L	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	4	55	0	47	127						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TGCCTCTCACATCCTCGAGTG	0.512000													1	0	1	1	1	1	0.940279	5	56	0	47	1	8.044819e-01	6	30	0	47	4
MARCH8	220972	broad.mit.edu	37	10	45954693	45954693	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:45954693G>A	ENST00000453424.2	-	7	1553	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	MARCH8_ENST00000395771.3_Missense_Mutation_p.S149F|MARCH8_ENST00000395769.2_Missense_Mutation_p.S149F|MARCH8_ENST00000319836.3_Missense_Mutation_p.S149F|MARCH8_ENST00000476962.1_5'UTR			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	17	96	0	91	149						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						GCGCTCGCTGGACGTCATCTG	0.532000													1	1	1	1	1	1	0.999978	17	103	0	94	1	6.559159e-01	4	10	0	94	5
SYT15	83849	broad.mit.edu	37	10	46964009	46964009	+	Silent	SNP	G	G	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:46964009G>C	ENST00000374323.3	-	6	1700	c.1113C>G	c.(1111-1113)gtC>gtG	p.V371V	SYT15_ENST00000503753.1_Silent_p.V318V|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Silent_p.V318V|SYT15_ENST00000374325.3_Silent_p.V318V			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	19	152	0	186	318	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GAGACACTTTGACAAACACAC	0.562000													1	1	1	1	1	1	1.000000	23	163	0	194	0	0	0	1	0	194	5
PPP2R2D	55844	broad.mit.edu	37	10	133758848	133758848	+	Silent	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr10:133758848C>A	ENST00000422256.2	+	4	509	c.24C>A	c.(22-24)atC>atA	p.I8I	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	15	97	0	99	235	Poly-Gly.				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		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)		CCGAAGTCATCACTGCAGCCG	0.562000													1	1	1	1	1	1	0.999954	16	109	0	107	1	9.995851e-01	15	79	0	107	5
OR10A6	390093	broad.mit.edu	37	11	7950117	7950117	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr11:7950117G>A	ENST00000309838.2	-	1	92	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	86	26	0	86	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAATAACCAGGAAAGCCACAA	0.448000													1	1	1	1	1	1	1.000000	92	26	0	92	0	0	0	0	0	92	5
OR5D14	219436	broad.mit.edu	37	11	55563417	55563417	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr11:55563417G>A	ENST00000335605.1	+	1	386	c.386G>A	c.(385-387)tGc>tAc	p.C129Y		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	7	50	0	65	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTGGCCATCTGCAATCCTCTG	0.532000													1	0	1	1	1	1	0.982906	7	51	0	66	0	0	0	0	0	66	4
SLC43A1	8501	broad.mit.edu	37	11	57281459	57281459	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr11:57281459G>C	ENST00000278426.3	-	2	481	c.126C>G	c.(124-126)aaC>aaG	p.N42K	SLC43A1_ENST00000528450.1_Missense_Mutation_p.N42K	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	19	3	0	12	42					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGAAGCCCTCGTTCTTCAGAA	0.597000													1	1	1	1	1	1	1.000000	21	3	0	13	1	9.999999e-01	13	4	0	13	5
B4GALNT3	283358	broad.mit.edu	37	12	667810	667810	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:667810C>G	ENST00000266383.5	+	18	2757	c.2744C>G	c.(2743-2745)aCc>aGc	p.T915S		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	9	30	0	51	915						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	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)			TGTGGGGCCACCCCCCAGTGG	0.567000													1	0	1	1	1	1	0.995997	9	32	0	53	1	9.981995e-01	13	35	0	53	4
ZNF384	0	broad.mit.edu	37	12	6787485	6787485	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:6787485G>C	ENST00000396795.1	-	5	991	c.494C>G	c.(493-495)tCc>tGc	p.S165C	ZNF384_ENST00000355772.4_Missense_Mutation_p.S110C|ZNF384_ENST00000396801.3_Missense_Mutation_p.S165C|ZNF384_ENST00000361959.3_Missense_Mutation_p.S165C|ZNF384_ENST00000396799.2_Missense_Mutation_p.S165C|ZNF384_ENST00000319770.3_Missense_Mutation_p.S149C			Q8TF68	ZN384_HUMAN	zinc finger protein 384	24	20	0	51	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						TACCTTCTTGGAGAGGTCAGG	0.607000			T	EWSR1, TAF15	ALL								1	1	1	1	1	1	1.000000	25	22	0	53	1	1	37	30	0	53	5
SCN8A	6334	broad.mit.edu	37	12	52139791	52139791	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:52139791G>A	ENST00000354534.5	+	13	2281	c.2103G>A	c.(2101-2103)atG>atA	p.M701I	SCN8A_ENST00000550891.1_Missense_Mutation_p.M701I|SCN8A_ENST00000545061.1_Missense_Mutation_p.M701I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	22	19	0	68	701					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACAGTATAATGAGTGTTGTTA	0.403000													1	1	1	1	1	1	1.000000	23	21	0	77	0	0	0	0	0	77	5
NCKAP1L	3071	broad.mit.edu	37	12	54914489	54914489	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:54914489G>A	ENST00000293373.6	+	17	1716	c.1637G>A	c.(1636-1638)cGt>cAt	p.R546H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R496H	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	35	75	0	154	546					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			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TTTCATCTTCGTATCTTTGAG	0.393000													1	1	1	1	1	1	1.000000	36	78	0	160	0	9.430753e-01	0	13	0	160	5
STAB2	55576	broad.mit.edu	37	12	104155079	104155079	+	Splice_Site	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:104155079C>T	ENST00000388887.2	+	66	7454	c.7248_splice	c.e66-1	p.T2417_splice	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	7	33	0	52	2417	FAS1 7.				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	p.T2417M(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTTCCCTAGACGGAGACCAGG	0.512000													1	1	1	1	1	1	0.991652	8	37	0	56	0	0	0	0	0	56	5
MPHOSPH9	10198	broad.mit.edu	37	12	123703047	123703047	+	Splice_Site	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr12:123703047C>A	ENST00000606320.1	-	6	1079		c.e6-1		MPHOSPH9_ENST00000302349.5_Splice_Site|MPHOSPH9_ENST00000541076.2_Splice_Site|MPHOSPH9_ENST00000392425.3_Splice_Site			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	9	75	0	48						M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	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)		TATAGCATTACTATTTAAGAA	0.398000													1	1	1	1	1	1	0.998693	11	78	0	50	0	4.728805e-01	0	12	0	50	5
LHFP	10186	broad.mit.edu	37	13	40175117	40175117	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr13:40175117G>A	ENST00000379589.3	-	2	699	c.237C>T	c.(235-237)agC>agT	p.S79S		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	144	47	0	187	79						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		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)		TCCATTCTGCGCTGGGGATGC	0.597000			T	HMGA2	lipoma								1	1	1	1	1	1	1.000000	148	49	0	192	1	1	233	20	0	192	5
SYNE3	161176	broad.mit.edu	37	14	95921744	95921744	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr14:95921744G>A	ENST00000334258.5	-	5	1121	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D	SYNE3_ENST00000557275.1_Silent_p.D369D|SYNE3_ENST00000553340.1_Silent_p.D369D|SYNE3_ENST00000554873.1_Silent_p.D126D	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3	8	29	0	39											breast(1)|endometrium(2)|lung(25)	28						CCACCAGCTCGTCCTCGGTCC	0.642000													1	1	1	1	1	1	0.992080	8	30	0	42	1	2.263188e-01	2	2	0	42	5
WDR72	256764	broad.mit.edu	37	15	53889416	53889416	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr15:53889416C>A	ENST00000396328.1	-	18	3247	c.3008G>T	c.(3007-3009)aGt>aTt	p.S1003I	WDR72_ENST00000557913.1_Missense_Mutation_p.S1000I|WDR72_ENST00000360509.5_Missense_Mutation_p.S1003I|WDR72_ENST00000559418.1_Missense_Mutation_p.S1013I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	15	67	0	150	1003										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTTCCCAAACTCTTCATGTG	0.388000													1	1	1	1	1	1	0.999991	18	73	0	162	0	0	0	1	0	162	5
HBA1	3039	broad.mit.edu	37	16	227404	227404	+	Nonsense_Mutation	SNP	C	C	A	rs121913128		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr16:227404C>A	ENST00000320868.5	+	3	460	c.423C>A	c.(421-423)taC>taA	p.Y141*	HBA1_ENST00000397797.1_Nonsense_Mutation_p.Y109*	NM_000558.3	NP_000549.1	P69905	HBA_HUMAN	hemoglobin, alpha 1	5	17	0	24	141			Y -> H (in Rouen/Ethiopia; O(2) affinity up).		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			lung(1)	1		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)	CCTCCAAATACCGTTAAGCTG	0.647000											OREG0003687	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	0	0	1	1	1	1	0.945274	5	18	0	25	0	9.207208e-01	0	20	0	25	3
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	24	8	0	34	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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 -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	24	8	0	35	1	1	136	22	0	35	5
CCR7	1236	broad.mit.edu	37	17	38711153	38711153	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:38711153G>A	ENST00000246657.2	-	3	1040	c.978C>T	c.(976-978)taC>taT	p.Y326Y	CCR7_ENST00000579344.1_Silent_p.Y320Y	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	14	45	1	82	326					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)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CGATGAAGGCGTACAAGAAAG	0.587000													1	0	1	1	1	1	0.996500	15	48	1	87	0	9.246051e-01	0	17	1	87	4
PYY	5697	broad.mit.edu	37	17	42030806	42030806	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:42030806G>C	ENST00000360085.2	-	5	586	c.46C>G	c.(46-48)Ctg>Gtg	p.L16V	PYY_ENST00000592796.1_Missense_Mutation_p.L16V	NM_004160.4	NP_004151.3	P10082	PYY_HUMAN	peptide YY	4	22	0	40	16					cell proliferation|cell-cell signaling|cellular component movement|cytoskeleton organization|digestion|G-protein coupled receptor protein signaling pathway	soluble fraction				endometrium(1)|ovary(1)	2		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGCAGGGCCAGAAGCACTGTG	0.662000													1	1	1	1	1	1	0.894938	4	26	0	42	0	0	0	0	0	42	5
TTLL6	284076	broad.mit.edu	37	17	46847315	46847315	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:46847315G>A	ENST00000393382.3	-	14	2326	c.2185C>T	c.(2185-2187)Cag>Tag	p.Q729*	TTLL6_ENST00000433608.2_Nonsense_Mutation_p.Q422*	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	11	105	0	72	681						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGGGTCTGCTGCTTCTTGCAT	0.502000													1	1	1	1	0	1	0.998597	11	108	0	77	0	5.421995e-02	1	2	0	77	4
TTLL6	284076	broad.mit.edu	37	17	46847428	46847428	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:46847428G>A	ENST00000393382.3	-	14	2213	c.2072C>T	c.(2071-2073)tCc>tTc	p.S691F	TTLL6_ENST00000433608.2_Missense_Mutation_p.S384F	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	11	88	0	60	643						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TTGGGTGGTGGATTCTGGGGT	0.498000													1	1	1	1	1	1	0.999306	12	93	0	65	0	4.291349e-02	1	1	0	65	5
KIF2B	84643	broad.mit.edu	37	17	51901710	51901710	+	Missense_Mutation	SNP	T	T	G			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:51901710T>G	ENST00000268919.4	+	1	1472	c.1316T>G	c.(1315-1317)aTg>aGg	p.M439R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	10	42	0	43	439	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			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGACGGATAATGCATGGCAAG	0.507000													1	1	1	1	1	1	0.997798	10	44	0	43	0	0	0	0	0	43	5
TEX2	55852	broad.mit.edu	37	17	62272447	62272447	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:62272447C>A	ENST00000258991.3	-	3	1737	c.1653G>T	c.(1651-1653)atG>atT	p.M551I	TEX2_ENST00000584379.1_Missense_Mutation_p.M551I|TEX2_ENST00000583097.1_Missense_Mutation_p.M551I			Q8IWB9	TEX2_HUMAN	testis expressed 2	6	56	0	35	551					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AAATCTCATTCATCCATCCCT	0.383000													1	1	1	1	1	1	0.967416	6	59	0	38	1	9.718279e-01	13	55	0	38	5
SGSH	6448	broad.mit.edu	37	17	78184304	78184304	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr17:78184304C>T	ENST00000326317.6	-	8	1542	c.1456G>A	c.(1456-1458)Gtc>Atc	p.V486I	SGSH_ENST00000534910.1_Missense_Mutation_p.V283I	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	5	15	0	15	486			V -> F (in MPS3A).		proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCCTCCAGGACGCCGTCGGGG	0.652000													1	0	1	1	1	1	0.946554	5	15	0	17	1	9.972493e-01	11	36	0	17	4
TMPRSS9	360200	broad.mit.edu	37	19	2403082	2403082	+	Missense_Mutation	SNP	C	C	T	rs141796619		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:2403082C>T	ENST00000332578.3	+	5	457	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	15	2	0	8	153	LDL-receptor class A.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GTCCTCAGGCCGCTGTCCAGG	0.552000													0	1	0	1	0	1	1.000000	16	2	0	8	0	0	0	0	0	8	2
ZNF792	126375	broad.mit.edu	37	19	35448925	35448925	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:35448925G>C	ENST00000404801.1	-	4	2220	c.1834C>G	c.(1834-1836)Cag>Gag	p.Q612E	ZNF792_ENST00000605484.1_Missense_Mutation_p.Q545E	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	10	17	0	20	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	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)			ACAGCGCCCTGATAAGGTCTG	0.488000													1	1	1	1	1	1	0.999713	12	18	0	22	1	9.650388e-01	4	8	0	22	5
MAG	4099	broad.mit.edu	37	19	35791110	35791110	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:35791110G>T	ENST00000361922.4	+	6	923	c.773G>T	c.(772-774)aGc>aTc	p.S258I	MAG_ENST00000537831.2_Missense_Mutation_p.S233I|MAG_ENST00000392213.3_Missense_Mutation_p.S258I	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	7	9	0	14	258	Ig-like C2-type 2.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	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)			TCCCACGTGAGCCTGCTCTGT	0.677000													0	1	1	1	0	1	0.988776	7	10	0	15	0	0	0	0	0	15	3
SAMD4B	55095	broad.mit.edu	37	19	39868449	39868449	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:39868449C>T	ENST00000314471.6	+	10	2464	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	SAMD4B_ENST00000598913.1_Missense_Mutation_p.R477W|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	21	51	0	59	477							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	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)			CCAGTTTACACGGGTGATGGG	0.592000													1	1	1	1	1	1	1.000000	23	58	0	62	1	1	52	128	0	62	5
LRRC4B	94030	broad.mit.edu	37	19	51022478	51022478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr19:51022478C>T	ENST00000599957.1	-	3	689	c.492G>A	c.(490-492)tgG>tgA	p.W164*	LRRC4B_ENST00000389201.3_Nonsense_Mutation_p.W164*			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	40	53	0	100	164						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGTTCCGCAGCCAGAGCTCCC	0.652000													1	1	1	1	1	1	1.000000	44	59	0	106	1	1	128	78	0	106	5
PROKR2	128674	broad.mit.edu	37	20	5282948	5282948	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:5282948C>T	ENST00000546004.1	-	3	1139	c.893G>A	c.(892-894)cGt>cAt	p.R298H	PROKR2_ENST00000217270.3_Missense_Mutation_p.R298H			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	42	22	0	76	298						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAAGAAGTCACGAACGATGGT	0.562000										HNSCC(71;0.22)			1	1	1	1	1	1	1.000000	43	25	0	79	1	9.999991e-01	21	0	0	79	5
SSTR4	6754	broad.mit.edu	37	20	23016994	23016994	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:23016994G>A	ENST00000255008.3	+	1	938	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	46	21	1	88	292					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGATGCCACCGTCAACCACGT	0.567000													1	0	1	1	1	1	1.000000	51	22	1	96	0	0	1	0	1	96	4
NFATC2	4773	broad.mit.edu	37	20	50139907	50139907	+	Silent	SNP	C	C	T			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:50139907C>T	ENST00000371564.3	-	2	1092	c.873G>A	c.(871-873)ccG>ccA	p.P291P	NFATC2_ENST00000414705.1_Silent_p.P271P|NFATC2_ENST00000396009.3_Silent_p.P291P	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	16	17	0	28	291					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		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGTACCCAGCCGGGGAGCCGT	0.697000													1	1	1	1	0	1	0.999990	16	19	0	30	0	4.408579e-01	0	3	0	30	4
SS18L1	26039	broad.mit.edu	37	20	60736500	60736500	+	Silent	SNP	G	G	A			TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr20:60736500G>A	ENST00000331758.3	+	4	266	c.240G>A	c.(238-240)acG>acA	p.T80T	SS18L1_ENST00000421564.1_Silent_p.T80T|SS18L1_ENST00000370848.4_Silent_p.T83T	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	27	52	0	48	80	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			AGCCGCCCACGCAGAACATGA	0.622000			T	SSX1	synovial sarcoma								1	1	1	1	1	1	1.000000	31	58	0	51	1	9.987755e-01	14	10	0	51	5
SHOX	6473	broad.mit.edu	37	X	601571	601571	+	Silent	SNP	C	C	A	rs137852557		TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chrX:601571C>A	ENST00000381578.1	+	4	1193	c.502C>A	c.(502-504)Cgg>Agg	p.R168R	SHOX_ENST00000554971.1_Silent_p.R168R|SHOX_ENST00000334060.3_Silent_p.R168R|SHOX_ENST00000381575.1_Silent_p.R168R	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	5	74	0	106	168			R -> W (in LMD).		skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		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)				GTTCCAGAACCGGAGAGCCAA	0.592000													1	0	1	1	0	1	0.966734	6	82	0	118	0	0	0	0	0	118	3
SRP72	6731	broad.mit.edu	37	4	57333819	57333820	+	Frame_Shift_Ins	INS	-	-	G	rs17524437	by1000genomes	TCGA-N8-A4PQ-01A-11D-A28R-08	TCGA-N8-A4PQ-10A-01D-A28U-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a3eaab79-ec94-43ea-bdeb-8e2b2a0ef27f	cab88f55-36e4-4645-a74e-6e3a2911e9c8	g.chr4:57333819_57333820insG	ENST00000342756.5	+	1	739_740	c.18_19insG	c.(16-21)agggggfs	p.RG6fs	SRP72_ENST00000504757.1_Frame_Shift_Ins_p.RG6fs|SRP72_ENST00000510663.1_Frame_Shift_Ins_p.RG6fs	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	9	19	0	37	6					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			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GCGGCGGCAGCGGGGGGGTGTC	0.639000													1	1	1	0	0	1	0.996183	9	28	0	37	1	9.987645e-01	8	38	0	37	3
PEX14	5195	broad.mit.edu	37	1	10659423	10659423	+	Splice_Site	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:10659423A>G	ENST00000356607.4	+	4	378	c.298_splice	c.e4+1	p.S100_splice	PEX14_ENST00000538836.1_Splice_Site_p.S36_splice	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	16	74	0	125	100					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TCAGCCATACAGTAAGTCACC	0.557000													1	1	1	1	1	1	0.999991	18	81	0	135	1	9.997372e-01	30	37	0	135	5
PRAMEF10	343071	broad.mit.edu	37	1	12952782	12952782	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:12952782G>A	ENST00000235347.4	-	4	1469	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	30	7	0	36	464										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	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)		TTCTCAGATGGCCATGAGCCA	0.517000													1	0	1	1	1	1	1.000000	31	8	0	41	0	0	0	0	0	41	4
SRRM1	10250	broad.mit.edu	37	1	24993374	24993374	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:24993374C>A	ENST00000323848.9	+	13	2012	c.1697C>A	c.(1696-1698)cCt>cAt	p.P566H	SRRM1_ENST00000447431.2_Missense_Mutation_p.P578H|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.P575H|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	6	37	0	46	566	Arg-rich.|Necessary for speckles and matrix localization.|Pro-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	p.P566H(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		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	0.542000													0	0	1	0	1	1	0.997850	10	41	0	54	0	9.996584e-01	0	70	0	54	2
CAD	790	broad.mit.edu	37	2	27449457	27449457	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:27449457G>T	ENST00000264705.4	+	14	2258	c.2096G>T	c.(2095-2097)gGt>gTt	p.G699V	CAD_ENST00000403525.1_Missense_Mutation_p.G636V	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	34	43	0	73	699	ATP-grasp 1.|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			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AAGGCCACAGGTTATCCACTG	0.522000													1	1	1	1	1	1	1.000000	36	46	0	76	1	1	23	23	0	76	5
MPV17	4358	broad.mit.edu	37	2	27535950	27535950	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:27535950T>C	ENST00000380044.1	-	3	152	c.97A>G	c.(97-99)Atc>Gtc	p.I33V	MPV17_ENST00000405076.1_Missense_Mutation_p.I33V|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000405983.1_Missense_Mutation_p.I48V|MPV17_ENST00000233545.2_Missense_Mutation_p.I33V|MPV17_ENST00000402310.1_Missense_Mutation_p.I33V|MPV17_ENST00000402722.1_Intron|MPV17_ENST00000403262.2_Missense_Mutation_p.I33V	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	37	55	0	123	33					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGTGAGATAATGTCACCC	0.592000													1	1	1	1	1	1	1.000000	62	81	0	127	1	1	20	22	0	127	5
GCC2	9648	broad.mit.edu	37	2	109087815	109087815	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:109087815C>G	ENST00000309863.6	+	6	2744	c.2030C>G	c.(2029-2031)tCt>tGt	p.S677C		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	57	99	0	137	677					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			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAGTTCTCTCTGAAGACAAA	0.333000													1	1	1	1	1	1	1.000000	58	101	0	148	1	9.733749e-01	6	7	0	148	5
TTN	7273	broad.mit.edu	37	2	179411904	179411904	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr2:179411904G>A	ENST00000589042.1	-	340	94572	c.94348C>T	c.(94348-94350)Cgt>Tgt	p.R31450C	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29809C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28882C|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22577C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22385C|TTN_ENST00000359218.5_Missense_Mutation_p.R22510C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	95	135	0	224	29809	Fibronectin type-III 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R22510C(1)|p.R28880C(1)|p.R28882C(1)|p.R22577C(1)|p.R22385C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGTATTACGTTCTTTCTTC	0.423000													1	1	1	1	1	1	1.000000	102	147	0	247	0	1.693543e-01	1	1	0	247	5
NBEAL2	23218	broad.mit.edu	37	3	47050735	47050735	+	Silent	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr3:47050735G>A	ENST00000450053.3	+	54	8369	c.8190G>A	c.(8188-8190)aaG>aaA	p.K2730K	NBEAL2_ENST00000383740.2_Silent_p.K979K|NBEAL2_ENST00000292309.5_Silent_p.K2546K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	6	5	0	24	2730							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		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)		TCGCGCGGAAGCTGTGGCGGT	0.697000													1	1	1	1	0	1	0.975837	6	10	0	27	1	9.998625e-01	16	35	0	27	4
LPP	4026	broad.mit.edu	37	3	188327559	188327559	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr3:188327559C>G	ENST00000312675.4	+	6	1286	c.1040C>G	c.(1039-1041)cCa>cGa	p.P347R	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.P347R|LPP_ENST00000448637.1_Missense_Mutation_p.P347R	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	33	56	0	85	347	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	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)		GGGATGTATCCAGTCACTGGT	0.522000			T	HMGA2, MLL, C12orf9	lipoma, leukemia								1	1	1	1	1	1	1.000000	34	58	0	89	0	4.754462e-01	1	3	0	89	5
NNT	23530	broad.mit.edu	37	5	43675666	43675666	+	Silent	SNP	A	A	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:43675666A>C	ENST00000264663.5	+	18	2909	c.2688A>C	c.(2686-2688)tcA>tcC	p.S896S	NNT_ENST00000512996.2_Silent_p.S765S|NNT_ENST00000344920.4_Silent_p.S896S	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	21	44	0	48	896					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			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GCACCACTTCAACAGCTGGTG	0.403000													1	1	1	1	1	1	1.000000	24	48	0	51	1	1	21	65	0	51	5
PCDHA4	0	broad.mit.edu	37	5	140188315	140188315	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:140188315G>A	ENST00000530339.1	+	1	1543	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G515S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G515S	NM_018907.2	NP_061730.1				128	96	0	170											breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGAGAGCGGCAAGGTGTA	0.677000													1	1	1	1	1	1	1.000000	134	99	0	177	0	9.860687e-01	0	6	0	177	5
FAM71B	153745	broad.mit.edu	37	5	156589885	156589885	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:156589885G>A	ENST00000302938.4	-	2	1486	c.1391C>T	c.(1390-1392)gCg>gTg	p.A464V		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	94	72	0	147	464						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	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)			GTGGGAAGACGCTTTCTGATT	0.512000													1	1	1	1	1	1	1.000000	99	77	0	156	0	0	0	0	0	156	5
CDHR2	54825	broad.mit.edu	37	5	176016580	176016580	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:176016580A>G	ENST00000510636.1	+	24	3443	c.3169A>G	c.(3169-3171)Aag>Gag	p.K1057E	CDHR2_ENST00000506348.1_Missense_Mutation_p.K1057E|CDHR2_ENST00000261944.5_Missense_Mutation_p.K1057E	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	16	46	0	62	1057	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTCCACACCGAAGGAGGAGGT	0.647000													1	1	1	1	1	1	0.999971	16	50	0	64	1	2.646488e-01	2	2	0	64	5
PRRC2A	7916	broad.mit.edu	37	6	31599134	31599134	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:31599134G>A	ENST00000376033.2	+	16	2918	c.2684G>A	c.(2683-2685)gGg>gAg	p.G895E	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G895E	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	21	28	0	53	895	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CAGCTGACGGGGCCAGAAGCA	0.667000													1	1	1	1	1	1	1.000000	21	32	0	55	1	1	124	111	0	55	5
PRSS35	167681	broad.mit.edu	37	6	84234378	84234378	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:84234378C>T	ENST00000536636.1	+	3	1563	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N	PRSS35_ENST00000369700.3_Silent_p.N406N	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	21	24	0	45	406	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		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)		TTCACGGGAACGATGCCAATT	0.498000													1	1	1	1	1	1	1.000000	23	27	0	49	1	9.999998e-01	18	25	0	49	5
C6orf70	0	broad.mit.edu	37	6	170176736	170176736	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr6:170176736G>A	ENST00000588451.1	+	15	1811	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H	C6orf70_ENST00000418781.3_Intron|C6orf70_ENST00000366772.2_Intron|C6orf70_ENST00000366773.3_Missense_Mutation_p.R569H|C6orf70_ENST00000392095.4_Missense_Mutation_p.R443H			Q5T6L9	CF070_HUMAN		19	29	0	47	569						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		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)		CTGCGGTCTCGCCAGCGGCAG	0.597000													1	1	1	1	1	1	1.000000	23	34	0	51	1	9.999996e-01	16	29	0	51	5
CARD11	84433	broad.mit.edu	37	7	2953022	2953022	+	Missense_Mutation	SNP	C	C	T	rs141681466		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:2953022C>T	ENST00000396946.4	-	22	3321	c.2918G>A	c.(2917-2919)cGc>cAc	p.R973H		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	49	71	0	76	973	Guanylate kinase-like.				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			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GGGCCGGCGGCGCTCGCAGTA	0.647000			Mis		DLBCL								1	1	1	1	1	1	1.000000	55	75	0	82	1	9.997757e-01	13	9	0	82	5
HOXA13	3209	broad.mit.edu	37	7	27237844	27237844	+	Silent	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:27237844G>A	ENST00000222753.4	-	2	1168	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V		NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	71	106	0	193	380					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GTTTGTTGATGACTTTTTTCT	0.423000			T	NUP98	AML								1	0	1	1	1	1	1.000000	73	112	0	203	1	9.998736e-01	12	13	0	203	4
CAMK2B	816	broad.mit.edu	37	7	44268464	44268464	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr7:44268464C>T	ENST00000395749.2	-	19	1475	c.1399G>A	c.(1399-1401)Gag>Aag	p.E467K	CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000395747.2_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	16	27	0	28	467					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGGGGGCCCTCGGCTTCTGGG	0.652000													1	1	1	1	0	1	0.999981	16	31	0	29	0	9.791152e-01	1	15	0	29	4
CHD7	55636	broad.mit.edu	37	8	61774882	61774882	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr8:61774882G>A	ENST00000423902.2	+	36	8437	c.7958G>A	c.(7957-7959)cGa>cAa	p.R2653Q	CHD7_ENST00000524602.1_Missense_Mutation_p.R604Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	4	14	0	18	2653					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			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		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)			GTCAATAAACGAAATGGGAAG	0.398000													1	0	1	1	1	1	0.897419	4	16	0	19	1	9.975254e-01	24	44	0	19	4
CACNA1B	774	broad.mit.edu	37	9	140773541	140773541	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr9:140773541C>T	ENST00000371372.1	+	2	465	c.320C>T	c.(319-321)gCc>gTc	p.A107V	CACNA1B_ENST00000371355.4_Missense_Mutation_p.A107V|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A107V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A107V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A107V|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	8	39	0	51	107					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACCATCATCGCCAACTGCATC	0.647000													1	0	1	0	1	1	0.991417	8	42	0	52	0	0	0	1	0	52	3
ASB13	79754	broad.mit.edu	37	10	5693326	5693326	+	Splice_Site	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:5693326C>T	ENST00000357700.6	-	3	258	c.231_splice	c.e3-1	p.V78_splice	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	14	18	0	20	78					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		CGAGCATCCACCTCACGGGAG	0.567000													0	0	1	0	0	1	0.999947	14	18	0	20	1	9.991938e-01	9	13	0	20	1
OGDHL	55753	broad.mit.edu	37	10	50955098	50955098	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:50955098G>A	ENST00000374103.4	-	9	1229	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	OGDHL_ENST00000432695.1_Missense_Mutation_p.R173C|OGDHL_ENST00000419399.1_Missense_Mutation_p.R325C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	44	76	0	114	382					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCATCTCCACGGTAGAACTGC	0.642000													1	1	1	1	1	1	1.000000	49	81	0	119	1	9.974936e-01	7	12	0	119	5
ZRANB1	54764	broad.mit.edu	37	10	126672148	126672148	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr10:126672148G>A	ENST00000359653.4	+	8	2170	c.1799G>A	c.(1798-1800)cGa>cAa	p.R600Q		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	24	44	0	40	600	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			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		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)		TATGGCAACCGAGGTGCTGGT	0.468000													1	1	1	1	1	1	1.000000	24	44	0	41	1	1	51	94	0	41	5
GYLTL1B	120071	broad.mit.edu	37	11	45948052	45948052	+	Missense_Mutation	SNP	C	C	A	rs142831797		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr11:45948052C>A	ENST00000531526.1	+	9	1179	c.1068C>A	c.(1066-1068)ttC>ttA	p.F356L	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.F356L|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.F83L|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.F325L|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.F356L|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.F325L	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	36	5	0	73	356					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TGGAATTCTTCCGCAATTTCT	0.582000													1	1	1	1	1	1	1.000000	37	5	0	76	1	1	38	0	0	76	5
STX3	6809	broad.mit.edu	37	11	59559673	59559673	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr11:59559673C>T	ENST00000535361.1	+	6	998	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	STX3_ENST00000437946.2_Missense_Mutation_p.R54W|STX3_ENST00000529177.1_Missense_Mutation_p.R151W|STX3_ENST00000337979.4_Missense_Mutation_p.R151W|STX3_ENST00000300150.7_Missense_Mutation_p.R120W			Q13277	STX3_HUMAN	syntaxin 3	17	37	0	51	151					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			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GCGAATCCAGCGGCAGCTCGA	0.527000													1	1	1	1	1	1	0.999995	18	42	0	53	1	1	64	70	0	53	5
ANO2	57101	broad.mit.edu	37	12	6031879	6031879	+	Silent	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:6031879G>A	ENST00000327087.8	-	2	173	c.102C>T	c.(100-102)ctC>ctT	p.L34L	ANO2_ENST00000356134.5_Silent_p.L34L|ANO2_ENST00000546188.1_Silent_p.L34L			Q9NQ90	ANO2_HUMAN	anoctamin 2	6	6	0	16	38						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTGGCATCTTGAGACACTGCT	0.662000													0	0	1	1	1	1	0.990505	7	7	0	17	0	0	0	0	0	17	3
FAM222A	84915	broad.mit.edu	37	12	110206636	110206636	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:110206636G>A	ENST00000538780.1	+	3	1618	c.902G>A	c.(901-903)cGt>cAt	p.R301H	FAM222A_ENST00000358906.3_Missense_Mutation_p.R301H|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA	NM_032829.2	NP_116218.2	Q5U5X8	CL034_HUMAN	family with sequence similarity 222, member A	6	7	0	17	301																	CAGCCACTGCGTGCCTACAGT	0.711000													1	1	1	1	0	1	0.990505	7	7	0	20	1	9.995082e-01	13	10	0	20	4
TRPV4	59341	broad.mit.edu	37	12	110234489	110234489	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr12:110234489C>T	ENST00000418703.2	-	6	1267	c.1173G>A	c.(1171-1173)cgG>cgA	p.R391R	TRPV4_ENST00000392719.2_Silent_p.R344R|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000261740.2_Silent_p.R391R|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000541794.1_Silent_p.R344R|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000536838.1_Silent_p.R357R	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	28	43	0	60	391					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			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCACCTCCCGCCGGATGATGT	0.622000													1	1	1	1	1	1	1.000000	31	48	0	65	0	0	1	0	0	65	5
NID2	22795	broad.mit.edu	37	14	52521021	52521021	+	Silent	SNP	G	G	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr14:52521021G>T	ENST00000216286.5	-	4	785	c.786C>A	c.(784-786)atC>atA	p.I262I	NID2_ENST00000541773.1_Silent_p.I209I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	24	5	0	58	262	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACACTCCAGGGATCCCCAGGT	0.483000													1	1	1	1	1	1	1.000000	27	5	0	65	1	1	14	7	0	65	5
ARHGAP11A	9824	broad.mit.edu	37	15	32928766	32928766	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:32928766A>G	ENST00000361627.3	+	12	2514	c.1792A>G	c.(1792-1794)Aaa>Gaa	p.K598E	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.K409E|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.K409E	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	17	25	0	68	598					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		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)		GACTTTGGTGAAAGTTCAAAA	0.373000													1	1	1	1	1	1	0.999997	18	25	0	70	1	9.999958e-01	21	20	0	70	5
DUOX2	50506	broad.mit.edu	37	15	45391874	45391874	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr15:45391874G>A	ENST00000389039.6	-	25	3786	c.3401C>T	c.(3400-3402)gCt>gTt	p.A1134V	DUOX2_ENST00000603300.1_Missense_Mutation_p.A1134V			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	38	63	0	87	1134	Ferric oxidoreductase.|Interaction with TXNDC11 (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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		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)		CAGGACAACAGCAGCCATGGC	0.557000													1	1	1	1	1	1	1.000000	41	68	0	95	0	0	0	0	0	95	5
IRX6	79190	broad.mit.edu	37	16	55362885	55362885	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr16:55362885C>T	ENST00000290552.7	+	5	2327	c.995C>T	c.(994-996)gCg>gTg	p.A332V	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	5	75	0	89	332						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TTCCTCTCGGCGGAGACAGGC	0.632000													0	1	1	0	0	1	0.939576	5	76	0	94	1	4.149011e-01	3	17	0	94	2
RSPRY1	89970	broad.mit.edu	37	16	57238722	57238722	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr16:57238722G>A	ENST00000537866.1	+	2	1025	c.152G>A	c.(151-153)gGa>gAa	p.G51E	RSPRY1_ENST00000394420.4_Missense_Mutation_p.G51E			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	93	103	0	191	51						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GATGACAGTGGAACAGATGAC	0.552000													1	1	1	1	1	1	1.000000	101	112	0	194	1	1	28	23	0	194	5
POLR2A	5430	broad.mit.edu	37	17	7417153	7417153	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:7417153C>T	ENST00000322644.6	+	29	5969	c.5570C>T	c.(5569-5571)tCt>tTt	p.S1857F		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	104	154	0	228	1857	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|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|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCCCAACCTCTCCCAAGTAC	0.567000													1	1	1	1	1	1	1.000000	107	165	0	251	1	1	302	364	0	251	5
TP53	7157	broad.mit.edu	37	17	7579389	7579389	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:7579389G>A	ENST00000420246.2	-	4	430	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q100*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q100*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q100*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q100*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	71	24	0	129	100	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q -> R (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q100*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TAGGTTTTCTGGGAAGGGACA	0.652000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	74	24	0	135	1	1	12	6	0	135	5
BPTF	2186	broad.mit.edu	37	17	65916138	65916138	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:65916138C>T	ENST00000321892.4	+	15	5875	c.5814C>T	c.(5812-5814)tcC>tcT	p.S1938S	BPTF_ENST00000306378.6_Silent_p.S1812S|BPTF_ENST00000335221.5_Silent_p.S1938S|BPTF_ENST00000424123.3_Silent_p.S1799S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	42	14	0	54	1938					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			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	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)			TAGAAACATCCGAAACTGAAA	0.343000													1	1	1	1	1	1	1.000000	42	16	0	56	1	1	29	2	0	56	5
HGS	9146	broad.mit.edu	37	17	79653378	79653378	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr17:79653378C>T	ENST00000329138.4	+	3	294	c.159C>T	c.(157-159)gtC>gtT	p.V53V		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	62	12	0	69	53	VHS.				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			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGAAGAAAGTCAACGACAAGA	0.478000													1	1	1	1	1	1	1.000000	72	13	0	79	1	1	167	9	0	79	5
ZSWIM4	65249	broad.mit.edu	37	19	13941049	13941049	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr19:13941049T>C	ENST00000254323.2	+	13	2344	c.2155T>C	c.(2155-2157)Ttc>Ctc	p.F719L	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.F553L	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	34	11	0	67	719							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GTATTCCTTATTCACACCAGT	0.602000													1	1	1	1	1	1	1.000000	34	11	0	70	1	9.998250e-01	9	1	0	70	5
NWD1	284434	broad.mit.edu	37	19	16872832	16872832	+	Silent	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr19:16872832C>T	ENST00000524140.2	+	8	2434	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	NWD1_ENST00000523826.1_Silent_p.S466S|NWD1_ENST00000552788.1_Silent_p.S672S|NWD1_ENST00000549814.1_Silent_p.S672S|NWD1_ENST00000379808.3_Silent_p.S672S|NWD1_ENST00000339803.6_Silent_p.S537S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	13	38	0	80	672							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTCAGGATCCGAGAGAGCCA	0.577000													1	1	1	1	1	1	0.999881	14	43	0	89	0	0	0	0	0	89	5
LPIN3	64900	broad.mit.edu	37	20	39981249	39981249	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr20:39981249A>T	ENST00000373257.3	+	10	1458	c.1367A>T	c.(1366-1368)aAa>aTa	p.K456I		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	14	594	0	313	456					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TGCCCAGAGAAATTCAACCAG	0.567000													1	0	1	1	0	1	0.999995	20	672	0	354	0	2.086597e-01	1	27	0	354	3
LAMA5	3911	broad.mit.edu	37	20	60885521	60885521	+	Silent	SNP	C	C	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr20:60885521C>A	ENST00000252999.3	-	76	10620	c.10554G>T	c.(10552-10554)ctG>ctT	p.L3518L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	22	72	0	66	3518					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			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCCGCCTCCAGGGGGCCCA	0.682000													1	1	1	1	0	1	1.000000	23	76	0	72	1	1	63	241	0	72	4
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	11	30	0	45	34					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	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		CLL, MDS								1	1	1	1	1	1	0.999789	13	33	0	48	1	1	96	235	0	48	5
CSF2RB	1439	broad.mit.edu	37	22	37325831	37325831	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr22:37325831T>C	ENST00000262825.5	+	6	917	c.700T>C	c.(700-702)Tgc>Cgc	p.C234R	CSF2RB_ENST00000403662.3_Missense_Mutation_p.C234R|CSF2RB_ENST00000536485.1_Missense_Mutation_p.C175R|CSF2RB_ENST00000406230.1_Missense_Mutation_p.C234R	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	18	19	0	36	234					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCAGAGGTTTGCTGGGACTC	0.657000													1	1	1	1	1	1	0.999999	19	20	0	39	0	0	0	0	0	39	5
NHS	4810	broad.mit.edu	37	X	17710478	17710478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:17710478C>T	ENST00000380060.3	+	3	1080	c.742C>T	c.(742-744)Cga>Tga	p.R248*	NHS_ENST00000398097.3_Nonsense_Mutation_p.R71*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	33	62	0	114	248						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAGCGATCGCCGAGAGCAAAG	0.532000													1	1	1	1	1	1	1.000000	37	70	0	121	1	4.231985e-01	4	0	0	121	5
MAGEB1	4112	broad.mit.edu	37	X	30268692	30268692	+	Missense_Mutation	SNP	G	G	T	rs2856741		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:30268692G>T	ENST00000378981.3	+	4	403	c.82G>T	c.(82-84)Gct>Tct	p.A28S	MAGEB1_ENST00000397550.1_Missense_Mutation_p.A28S|MAGEB1_ENST00000397548.2_Missense_Mutation_p.A28S	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	7	24	0	26	28				A -> R (in Ref. 1; CAA57889).						NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TCTCAAGGTTGCTCACGCCAC	0.602000													1	1	1	1	1	1	0.984895	7	25	0	27	0	0	0	0	0	27	5
CLCN5	1184	broad.mit.edu	37	X	49845343	49845343	+	Silent	SNP	G	G	A	rs140312372	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:49845343G>A	ENST00000376088.3	+	8	1337	c.696G>A	c.(694-696)gcG>gcA	p.A232A	CLCN5_ENST00000376108.3_Silent_p.A162A|CLCN5_ENST00000307367.2_Silent_p.A162A|CLCN5_ENST00000376091.3_Silent_p.A232A	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	20	43	0	59	162					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					AGGTGTTTGCGCCTTATGCCT	0.408000													1	1	1	1	1	1	1.000000	23	46	0	74	0	9.142969e-01	0	11	0	74	5
TENM1	10178	broad.mit.edu	37	X	123838998	123838998	+	Missense_Mutation	SNP	G	G	T	rs138121113		TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:123838998G>T	ENST00000422452.2	-	5	943	c.880C>A	c.(880-882)Cct>Act	p.P294T	TENM1_ENST00000371130.3_Missense_Mutation_p.P294T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1	10	193	0	265																		CGAGGAAGAGGCCTGGGAGGG	0.522000													1	1	1	1	0	1	0.998462	11	206	0	281	0	0	0	0	0	281	4
SLITRK2	84631	broad.mit.edu	37	X	144906237	144906237	+	Missense_Mutation	SNP	A	A	G			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:144906237A>G	ENST00000370490.1	+	1	6549	c.2294A>G	c.(2293-2295)gAa>gGa	p.E765G	SLITRK2_ENST00000428560.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E765G|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E765G			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	20	267	0	306	765						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CGAGTCAAGGAACTTCCCAGC	0.478000													1	1	1	1	0	1	0.999998	21	287	0	317	0	4.488271e-02	0	5	0	317	4
DAB1	1600	broad.mit.edu	37	1	57535038	57535038	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr1:57535038delA	ENST00000371236.2	-	8	921	c.658delT	c.(658-660)atfs	p.Y220fs	DAB1_ENST00000420954.2_Intron|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000371234.4_Frame_Shift_Del_p.Y220fs|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371231.1_Frame_Shift_Del_p.Y220fs			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	45	37	0	104	220					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TATACCTGATAAATGTTTTCT	0.423000													1	1	1	1	0	1	1.000000	45	84	0	105							4
RFC1	5981	broad.mit.edu	37	4	39304717	39304718	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			TC	-	TC	TC		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr4:39304717_39304718delTC	ENST00000381897.1	-	16	2300_2301	c.2167_2168delGA	c.(2167-2169)tfs	p.D723fs	RFC1_ENST00000349703.2_Frame_Shift_Del_p.D722fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	15	30	0	82	723					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			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCCATGCCATCTACTTCATCC	0.416000													1	1	1	1	0	1	0.999942	15	45	0	83	1	9.998482e-01	3	50	0	83	4
MAP3K1	4214	broad.mit.edu	37	5	56178633	56178643	+	Frame_Shift_Del	DEL	CCCCATAGTTC	CCCCATAGTTC	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr5:56178633_56178643delCCCCATAGTTC	ENST00000399503.3	+	14	3606_3616	c.3606_3616delCCCCATAGTTC	c.(3604-3618)ctctfs	p.LPIVP1202fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	15	30	0	81	1202					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			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		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)		AGGATGCCCTCCCCATAGTTCCTCAGCTGCA	0.417000													1	1	1	1	0	1	0.999994	18	47	0	77	0	6.235964e-01	0	7	0	77	4
GLIS2	84662	broad.mit.edu	37	16	4384870	4384871	+	Frame_Shift_Ins	INS	-	-	G	rs145025457	byFrequency	TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chr16:4384870_4384871insG	ENST00000262366.3	+	5	1235_1236	c.414_415insG	c.(412-417)tcggggfs	p.SG138fs	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Frame_Shift_Ins_p.SG138fs			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	30	64	0	86	138	Interaction with CTNND1 (By similarity).				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	p.G139R(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCTCGGCTCCGGGGGGGCCCT	0.658000													1	0	0	1	0	1	1.000000	30	102	0	91	1	1	64	158	0	91	2
SRPK3	26576	broad.mit.edu	37	X	153050878	153050883	+	In_Frame_Del	DEL	CACAGT	CACAGT	-			TCGA-N8-A56S-01A-11D-A28R-08	TCGA-N8-A56S-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86211ee6-0559-4825-a102-ed909f5328ee	cf639b94-ef71-448e-80fe-eeb0283bd015	g.chrX:153050878_153050883delCACAGT	ENST00000489426.1	+	21	4174_4179	c.1808_1813delCACAGT	c.(1807-1815)atc>a	p.TQF603del	SRPK3_ENST00000370100.1_In_Frame_Del_p.TQF461del|SRPK3_ENST00000370104.1_In_Frame_Del_p.TQF535del|SRPK3_ENST00000393786.3_In_Frame_Del_p.TQF502del|SRPK3_ENST00000370108.3_In_Frame_Del_p.TQF503del|SRPK3_ENST00000370101.3_In_Frame_Del_p.TQF536del			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	45	93	0	205	536					cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	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)					GAGCAGGCCACACAGTTCAGCGCCTT	0.626000													1	1	1	1	0	1	1.000000	45	150	0	210	0	9.246493e-01	0	17	0	210	4
NTRK1	4914	broad.mit.edu	37	1	156843598	156843598	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:156843598C>T	ENST00000368196.3	+	8	1144	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	NTRK1_ENST00000358660.3_Missense_Mutation_p.R342W|NTRK1_ENST00000392302.2_Missense_Mutation_p.R312W|NTRK1_ENST00000524377.1_Missense_Mutation_p.R342W	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	23	17	0	22	342	Ig-like C2-type 2.				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			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TGAGACCGTGCGGCACGGGTG	0.632000			T	TPM3, TPR, TFG	papillary thyroid					TSP Lung(10;0.080)			1	1	1	1	1	1	1.000000	27	19	0	23	1	9.830494e-01	5	3	0	23	5
SLC9C2	284525	broad.mit.edu	37	1	173506126	173506126	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:173506126C>A	ENST00000367714.3	-	14	2032	c.1610G>T	c.(1609-1611)cGg>cTg	p.R537L	SLC9C2_ENST00000536496.1_Missense_Mutation_p.R435L|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	24	132	0	101	537					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AATTAATATCCGGGCTGCCTC	0.308000													1	1	1	1	1	1	1.000000	28	151	0	113	0	0	0	0	0	113	5
FAM5B	0	broad.mit.edu	37	1	177247778	177247778	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:177247778G>A	ENST00000361539.4	+	7	1404	c.1092G>A	c.(1090-1092)atG>atA	p.M364I	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		15	579	0	351	364						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TCTGGGCCATGGACACCAGCC	0.567000													1	0	1	1	0	1	0.999965	17	626	0	380	0	4.724249e-03	0	4	0	380	3
CRB1	23418	broad.mit.edu	37	1	197411423	197411423	+	Splice_Site	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:197411423G>T	ENST00000367400.3	+	11	4140		c.e11+1		CRB1_ENST00000367397.1_3'UTR|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000535699.1_Splice_Site	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	9	196	0	206						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGAGGTGGACGTAAGCAGCCT	0.478000													1	0	1	1	0	1	0.994508	9	208	0	229	1	2.283105e-03	2	0	0	229	3
ADIPOR1	51094	broad.mit.edu	37	1	202915580	202915580	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:202915580C>T	ENST00000340990.5	-	4	715	c.417G>A	c.(415-417)tgG>tgA	p.W139*	ADIPOR1_ENST00000436244.1_Nonsense_Mutation_p.W139*|ADIPOR1_ENST00000367254.3_Nonsense_Mutation_p.W139*	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	34	145	0	111	139					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GCAGATGGGTCCAGATGTTGC	0.478000													1	1	1	1	1	1	1.000000	39	153	0	122	0	1	1	147	0	122	5
GALNT2	2590	broad.mit.edu	37	1	230415077	230415077	+	Missense_Mutation	SNP	A	A	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr1:230415077A>C	ENST00000366672.4	+	16	1661	c.1589A>C	c.(1588-1590)aAg>aCg	p.K530T	GALNT2_ENST00000543760.1_Missense_Mutation_p.K492T|GALNT2_ENST00000485438.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	33	40	0	75	530	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			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GGCAACTCCAAGCTGAGGCAC	0.582000													1	1	1	1	1	1	1.000000	33	44	0	85	1	1	63	69	0	85	5
TTC30B	150737	broad.mit.edu	37	2	178416032	178416032	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr2:178416032T>C	ENST00000408939.2	-	1	1710	c.1460A>G	c.(1459-1461)aAg>aGg	p.K487R		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	23	84	0	277	487					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			ATAATGCTTCTTGACTATGGG	0.383000													0	0	1	1	0	1	1.000000	23	84	0	167	0	0	0	0	0	167	2
ILKAP	80895	broad.mit.edu	37	2	239103471	239103471	+	Silent	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr2:239103471G>A	ENST00000254654.3	-	2	271	c.96C>T	c.(94-96)ctC>ctT	p.L32L	ILKAP_ENST00000490837.1_5'UTR	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	13	39	1	70	32						cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TGGCCGGAGGGAGGTCATCAA	0.473000													1	0	1	1	1	1	0.994169	14	41	1	78	1	9.531702e-01	7	18	1	78	4
PASK	23178	broad.mit.edu	37	2	242062240	242062240	+	Silent	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr2:242062240G>A	ENST00000403638.3	-	12	3070	c.2979C>T	c.(2977-2979)ggC>ggT	p.G993G	PASK_ENST00000539818.1_Silent_p.G777G|PASK_ENST00000405260.1_Silent_p.G993G|PASK_ENST00000358649.4_Silent_p.G993G|PASK_ENST00000544142.1_Silent_p.G807G|PASK_ENST00000234040.4_Silent_p.G993G	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	26	71	0	131	993					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		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)		GGGAGTACTCGCCCTCACAGG	0.587000													1	1	1	1	1	1	1.000000	28	73	0	134	1	9.214808e-01	3	11	0	134	5
ROBO2	6092	broad.mit.edu	37	3	77595594	77595594	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr3:77595594G>A	ENST00000461745.1	+	7	1940	c.1040G>A	c.(1039-1041)tGg>tAg	p.W347*	ROBO2_ENST00000487694.3_Nonsense_Mutation_p.W363*|ROBO2_ENST00000332191.8_Nonsense_Mutation_p.W347*	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	27	179	0	284	347	Ig-like C2-type 4.				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			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				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)		GCTGTTTTTTGGCAGAAAGAA	0.478000													1	1	1	1	1	1	1.000000	30	197	0	319	0	0	0	1	0	319	5
CASR	846	broad.mit.edu	37	3	122003445	122003445	+	Missense_Mutation	SNP	A	A	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr3:122003445A>C	ENST00000498619.1	+	7	3112	c.2674A>C	c.(2674-2676)Aag>Cag	p.K892Q	CASR_ENST00000296154.5_Missense_Mutation_p.K882Q|CASR_ENST00000490131.1_Missense_Mutation_p.K882Q	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	28	37	0	71	882	Interaction with RNF19A.				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			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCACGCTTTCAAGGTGGCTGC	0.622000													1	1	1	1	1	1	1.000000	28	40	0	76	0	0	0	0	0	76	5
PIK3CA	5290	broad.mit.edu	37	3	178916957	178916957	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr3:178916957G>T	ENST00000263967.3	+	2	501	c.344G>T	c.(343-345)cGa>cTa	p.R115L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	26	36	0	57	115					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.R115L(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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)			ATCCTCAATCGAGAAATTGGT	0.333000		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	27	38	0	61	1	6.853559e-01	2	3	0	61	5
PCYT1A	5130	broad.mit.edu	37	3	195974349	195974349	+	Silent	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr3:195974349C>T	ENST00000292823.2	-	6	547	c.375G>A	c.(373-375)acG>acA	p.T125T	PCYT1A_ENST00000431016.1_Silent_p.T125T|PCYT1A_ENST00000419333.1_Silent_p.T125T|PCYT1A_ENST00000491544.1_5'UTR	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	30	106	0	103	125	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	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)	CGTTCATCACCGTGAAGCCTT	0.537000													1	1	1	1	1	1	1.000000	31	113	0	108	1	9.804766e-01	5	21	0	108	5
CCDC158	339965	broad.mit.edu	37	4	77290771	77290771	+	Silent	SNP	A	A	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr4:77290771A>G	ENST00000388914.3	-	10	1307	c.1155T>C	c.(1153-1155)gaT>gaC	p.D385D		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	4	60	0	82	385										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTTTGTGTAGATCAGCCTAAA	0.408000													1	0	1	1	0	1	0.939911	5	65	0	91	0	0	0	0	0	91	3
C5orf38	153571	broad.mit.edu	37	5	2752842	2752842	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr5:2752842G>T	ENST00000515640.1	+	2	326	c.307G>T	c.(307-309)Gcg>Tcg	p.A103S	IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000334000.3_Missense_Mutation_p.A103S|C5orf38_ENST00000397835.4_Missense_Mutation_p.A103S|C5orf38_ENST00000505778.1_Missense_Mutation_p.A103S|C5orf38_ENST00000457752.2_Intron			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	58	63	0	123	103						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GCTCAGGTTGGCGCCGCCGGT	0.637000													1	1	1	1	0	1	1.000000	62	70	0	138	0	0	0	1	0	138	4
ZFYVE16	9765	broad.mit.edu	37	5	79734554	79734554	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr5:79734554G>A	ENST00000338008.5	+	3	2230	c.2050G>A	c.(2050-2052)Gtt>Att	p.V684I	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.V684I|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.V684I	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	11	77	0	61	684					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			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		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)		AGCAGATACCGTTGTTCCAAT	0.398000													1	1	1	1	1	1	0.998677	11	82	0	65	0	1.271005e-01	1	4	0	65	5
ARSK	153642	broad.mit.edu	37	5	94891003	94891003	+	Silent	SNP	G	G	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr5:94891003G>C	ENST00000380009.4	+	1	226	c.21G>C	c.(19-21)tcG>tcC	p.S7S	ARSK_ENST00000504763.1_Silent_p.S7S	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	3	11	0	24	7						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		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)		TGTGGGTGTCGGTGGTCGCAG	0.692000													1	0	1	1	1	1	0.900136	4	11	0	25	0	4.499484e-01	0	5	0	25	4
PCDHGA7	0	broad.mit.edu	37	5	140764737	140764737	+	Silent	SNP	C	C	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr5:140764737C>G	ENST00000518325.1	+	1	2271	c.2271C>G	c.(2269-2271)gtC>gtG	p.V757V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1				90	33	0	178											NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCATGAGGTCTCCCTCACCG	0.562000													1	1	1	1	1	1	1.000000	93	37	0	195	1	1	3	25	0	195	5
FIG4	9896	broad.mit.edu	37	6	110081456	110081456	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr6:110081456C>G	ENST00000230124.3	+	11	1265	c.1141C>G	c.(1141-1143)Cga>Gga	p.R381G	FIG4_ENST00000441478.2_Missense_Mutation_p.R104G	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	11	44	0	45	381	SAC.				cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		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)		GATAAAGGAACGAGAGAAAAG	0.333000													1	1	1	1	1	1	0.998895	11	46	0	46	0	8.906118e-01	1	18	0	46	5
C7orf50	84310	broad.mit.edu	37	7	1167007	1167007	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:1167007C>A	ENST00000397098.3	-	2	941	c.15G>T	c.(13-15)aaG>aaT	p.K5N	C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000357429.6_Missense_Mutation_p.K5N|C7orf50_ENST00000397100.2_Missense_Mutation_p.K5N			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	4	3	0	15	5							protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		GAACTTTTCTCTTCTGTTTTG	0.443000													0	0	1	1	1	1	0.908669	4	5	0	16	1	9.998424e-01	32	24	0	16	3
NPY	4852	broad.mit.edu	37	7	24324969	24324969	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:24324969G>A	ENST00000407573.1	+	3	400	c.110G>A	c.(109-111)gGc>gAc	p.G37D	NPY_ENST00000405982.1_Missense_Mutation_p.G37D|NPY_ENST00000242152.2_Missense_Mutation_p.G37D			P01303	NPY_HUMAN	neuropeptide Y	16	28	1	62	37					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GACAACCCGGGCGAGGACGCA	0.672000													1	0	1	1	1	1	0.999626	18	30	1	62	0	3.266968e-01	0	3	1	62	4
URGCP	55665	broad.mit.edu	37	7	43918018	43918018	+	Missense_Mutation	SNP	A	A	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:43918018A>C	ENST00000336086.6	-	4	3151	c.915T>G	c.(913-915)ttT>ttG	p.F305L	URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.F305L|URGCP_ENST00000447717.3_Missense_Mutation_p.F305L|URGCP_ENST00000402306.3_Missense_Mutation_p.F339L|URGCP_ENST00000453200.1_Missense_Mutation_p.F348L|URGCP_ENST00000443736.1_Missense_Mutation_p.F305L|RP5-1165K10.1_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	48	65	0	122	348					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAAGAGCTTAAACTGCAGCC	0.463000													1	1	1	1	1	1	1.000000	50	70	0	128	1	1	23	24	0	128	5
PPP1R3A	5506	broad.mit.edu	37	7	113518383	113518383	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:113518383C>T	ENST00000284601.3	-	4	2832	c.2764G>A	c.(2764-2766)Gaa>Aaa	p.E922K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	41	71	0	74	922					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ACTGAAATTTCAGTATGATGT	0.378000													1	1	1	1	1	1	1.000000	45	77	0	83	0	0	0	1	0	83	5
MGAM	8972	broad.mit.edu	37	7	141736743	141736743	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:141736743C>T	ENST00000475668.2	+	18	2251	c.2197C>T	c.(2197-2199)Cga>Tga	p.R733*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.R733*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	53	193	0	234	733	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCTCACAGCCGAGGGGACAC	0.468000													1	1	1	1	1	1	1.000000	57	217	0	257	0	0	0	0	0	257	5
ZNF282	8427	broad.mit.edu	37	7	148895722	148895722	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr7:148895722G>T	ENST00000262085.3	+	2	568	c.463G>T	c.(463-465)Ggg>Tgg	p.G155W	ZNF282_ENST00000479907.1_Missense_Mutation_p.G155W	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	5	185	0	174	155					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GGCCGTGCTGGGGACCCTGCT	0.647000													0	0	1	0	0	1	0.938308	5	200	0	184	1	1.387277e-01	2	20	0	184	1
KIAA1967	0	broad.mit.edu	37	8	22476462	22476462	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr8:22476462G>A	ENST00000308511.4	+	19	2704	c.2455G>A	c.(2455-2457)Gcg>Acg	p.A819T	KIAA1967_ENST00000520861.1_Missense_Mutation_p.A494T|KIAA1967_ENST00000389279.3_Missense_Mutation_p.A819T			Q8N163	K1967_HUMAN		56	58	2	236	819					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		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)		GCTGCAGCGCGCGGAGCAGCA	0.622000													1	0	0	1	1	1	1.000000	58	61	2	254	1	1	98	88	2	254	3
WHSC1L1	54904	broad.mit.edu	37	8	38178629	38178629	+	Silent	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr8:38178629G>T	ENST00000317025.8	-	8	2287	c.1770C>A	c.(1768-1770)tcC>tcA	p.S590S	WHSC1L1_ENST00000527502.1_Silent_p.S590S|WHSC1L1_ENST00000433384.2_Silent_p.S590S|WHSC1L1_ENST00000316985.3_Silent_p.S590S	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	22	37	0	86	590					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	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)			CAACCTCAGTGGATTTCTCTG	0.358000			T	NUP98	AML								1	1	1	1	1	1	1.000000	24	40	0	99	1	1	19	49	0	99	5
PKHD1L1	93035	broad.mit.edu	37	8	110467013	110467013	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr8:110467013G>C	ENST00000378402.5	+	45	6910	c.6806G>C	c.(6805-6807)cGa>cCa	p.R2269P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	34	42	0	64	2269	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTCACCTGCGATCTCCTGAG	0.493000										HNSCC(38;0.096)			1	1	1	1	1	1	1.000000	37	46	0	69	1	9.985743e-01	9	8	0	69	5
DFNB31	25861	broad.mit.edu	37	9	117240804	117240804	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr9:117240804G>T	ENST00000374057.3	-	2	1514	c.866C>A	c.(865-867)cCt>cAt	p.P289H	DFNB31_ENST00000362057.3_Intron|DFNB31_ENST00000265134.6_Intron			Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	16	2	0	39	289	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGTCTGAGAGGCTGGCCTCC	0.612000													1	0	1	1	1	1	1.000000	17	3	0	44	1	9.999988e-01	6	0	0	44	4
TPRN	286262	broad.mit.edu	37	9	140086700	140086700	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr9:140086700C>T	ENST00000321773.2	-	3	1900	c.1901G>A	c.(1900-1902)gGg>gAg	p.G634E	TPRN_ENST00000409012.4_Intron			Q4KMQ1	TPRN_HUMAN	taperin	53	57	0	126	691					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CTCCACTCCCCCGCATCTCAC	0.662000													1	1	1	1	1	1	1.000000	58	60	0	136	0	1	0	100	0	136	5
INPP5F	22876	broad.mit.edu	37	10	121586918	121586918	+	Missense_Mutation	SNP	T	T	A	rs140846782		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr10:121586918T>A	ENST00000361976.2	+	20	3191	c.3025T>A	c.(3025-3027)Tct>Act	p.S1009T	INPP5F_ENST00000369080.3_Missense_Mutation_p.S399T	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	32	68	0	140	1009							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ACAGACACCTTCTCGGCCATC	0.453000													1	1	1	1	1	1	1.000000	34	77	0	156	1	9.988711e-01	10	18	0	156	5
OR51T1	401665	broad.mit.edu	37	11	4903359	4903359	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr11:4903359T>C	ENST00000380378.1	+	1	311	c.311T>C	c.(310-312)aTt>aCt	p.I104T	OR51T1_ENST00000322049.1_Missense_Mutation_p.I77T|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	20	20	0	82	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		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)		TGTCTGACCATTACGACCCTT	0.443000													1	1	1	1	1	1	1.000000	21	23	0	87	0	0	0	0	0	87	5
KIRREL3	84623	broad.mit.edu	37	11	126305176	126305176	+	Silent	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr11:126305176G>A	ENST00000525144.2	-	13	1824	c.1575C>T	c.(1573-1575)gcC>gcT	p.A525A	KIRREL3_ENST00000529097.2_Intron|KIRREL3_ENST00000525704.2_Silent_p.A525A|KIRREL3_ENST00000416561.2_Intron	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	32	5	0	55	525					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	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)		CTTCCAGCCCGGCTCCCGACT	0.607000													1	1	1	1	1	1	1.000000	35	5	0	61	1	9.997634e-01	4	3	0	61	5
TIMELESS	8914	broad.mit.edu	37	12	56817131	56817131	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:56817131G>C	ENST00000229201.4	-	18	2370	c.2216C>G	c.(2215-2217)gCc>gGc	p.A739G	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.A740G	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	28	82	0	115	740					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				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AAAAAGTAGGGCTTCCATTTT	0.502000													1	1	1	1	1	1	1.000000	30	87	0	123	1	9.991199e-01	6	30	0	123	5
SLC5A8	160728	broad.mit.edu	37	12	101561910	101561910	+	Silent	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:101561910G>A	ENST00000536262.2	-	11	1842	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	4	16	0	18	428					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGCCCAAAGCGAACAGGCCCA	0.398000													1	0	1	1	0	1	0.945274	5	18	0	22	0	0	0	0	0	22	3
PITPNM2	57605	broad.mit.edu	37	12	123494604	123494604	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:123494604C>A	ENST00000280562.5	-	5	641	c.436G>T	c.(436-438)Gac>Tac	p.D146Y	PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.D146Y|PITPNM2_ENST00000320201.4_Missense_Mutation_p.D146Y|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000546049.1_Missense_Mutation_p.D146Y			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	62	54	0	129	146					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	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)		GGCACAGGGTCTTTGACAATG	0.567000													1	1	1	1	1	1	1.000000	66	58	0	136	1	5.471855e-01	3	0	0	136	5
MTUS2	23281	broad.mit.edu	37	13	29600313	29600313	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr13:29600313G>A	ENST00000431530.3	+	1	1566	c.1508G>A	c.(1507-1509)cGc>cAc	p.R503H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	21	11	0	66	493						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAAAGTGGCCGCTCAGAAGCA	0.498000													1	1	1	1	1	1	1.000000	21	12	0	69	0	0	1	0	0	69	5
DAAM1	23002	broad.mit.edu	37	14	59826213	59826213	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr14:59826213C>A	ENST00000395125.1	+	21	2677	c.2654C>A	c.(2653-2655)gCg>gAg	p.A885E	DAAM1_ENST00000360909.3_Missense_Mutation_p.A875E|DAAM1_ENST00000351081.1_Missense_Mutation_p.A885E|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	6	13	0	24	885	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCTCAAGCTGCGAAAGTAAAG	0.378000													0	0	1	0	0	1	0.973531	6	14	0	27	1	7.864299e-01	4	5	0	27	1
IQGAP1	8826	broad.mit.edu	37	15	90931626	90931626	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr15:90931626G>A	ENST00000268182.5	+	1	177	c.53G>A	c.(52-54)gGc>gAc	p.G18D	IQGAP1_ENST00000560738.1_Missense_Mutation_p.G18D	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	4	9	0	31	18					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			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	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)			CCGCACTATGGCTGTGAGTGC	0.716000													1	0	1	1	0	1	0.900958	4	10	0	32	1	4.834881e-01	3	2	0	32	3
SSTR5	0	broad.mit.edu	37	16	1129080	1129080	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:1129080T>C	ENST00000293897.4	+	1	300	c.212T>C	c.(211-213)aTg>aCg	p.M71T	SSTR5_ENST00000397547.2_Missense_Mutation_p.M71T|SSTR5_ENST00000562758.1_Missense_Mutation_p.M71T	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	15	22	0	48	71					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TTCGCCAAGATGAAGACCGTC	0.647000													1	1	1	1	1	1	0.999986	16	25	0	50	0	0	0	0	0	50	5
C16orf90	646174	broad.mit.edu	37	16	3543946	3543946	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:3543946G>A	ENST00000437192.3	-	3	444	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	6	13	0	19	138										large_intestine(1)	1						GGACTAGGCTGGGGGAGGGCA	0.627000													1	1	1	1	1	1	0.987210	7	14	0	21	0	0	0	1	0	21	5
ZNF267	10308	broad.mit.edu	37	16	31927691	31927691	+	Silent	SNP	G	G	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:31927691G>T	ENST00000300870.10	+	4	2330	c.2121G>T	c.(2119-2121)cgG>cgT	p.R707R	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	25	17	0	62	707					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CTACACATCGGAGAAGTCATA	0.438000													1	1	1	1	0	1	1.000000	27	19	0	67	1	9.999999e-01	17	15	0	67	4
LRRC36	55282	broad.mit.edu	37	16	67400946	67400946	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:67400946T>C	ENST00000329956.6	+	8	800	c.781T>C	c.(781-783)Tcc>Ccc	p.S261P	LRRC36_ENST00000435835.3_Missense_Mutation_p.S140P|LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_5'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.S140P	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	5	102	0	100	261										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GCCTCGTCAGTCCACAGTCCG	0.433000													1	0	1	1	0	1	0.966299	6	108	0	113	0	0	0	0	0	113	3
ZFP90	146198	broad.mit.edu	37	16	68597568	68597568	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr16:68597568A>G	ENST00000570495.1	+	5	1170	c.878A>G	c.(877-879)cAt>cGt	p.H293R	ZFP90_ENST00000563169.2_Missense_Mutation_p.H293R|ZFP90_ENST00000398253.2_Missense_Mutation_p.H293R|RP11-615I2.7_ENST00000571720.1_RNA			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	54	30	0	91	293					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		GCCTTCAGGCATAGCTCATCT	0.488000													1	0	1	1	0	1	1.000000	56	31	0	95	1	9.707531e-01	5	1	0	95	3
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	36	5	0	87	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	38	7	0	99	1	1	97	4	0	99	5
TBX2	6909	broad.mit.edu	37	17	59485535	59485535	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr17:59485535G>A	ENST00000240328.3	+	7	2088	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	5	59	0	77	603	Ala-rich.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						cgccgcagccgccgGCTCCCT	0.701000													1	0	1	1	0	1	0.966713	6	83	0	81	0	5.333269e-01	0	23	0	81	3
ZNF750	79755	broad.mit.edu	37	17	80788321	80788321	+	Silent	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr17:80788321C>T	ENST00000269394.3	-	3	2702	c.1869G>A	c.(1867-1869)gcG>gcA	p.A623A	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Silent_p.A224A	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	17	58	0	76	623						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	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)			TGCTGTCCACCGCGCATGCGT	0.711000													1	0	1	1	1	1	0.999984	17	62	0	80	1	9.996368e-01	49	5	0	80	4
ABCA7	10347	broad.mit.edu	37	19	1044627	1044627	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:1044627C>T	ENST00000263094.6	+	11	1330	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ABCA7_ENST00000435683.2_Missense_Mutation_p.R229W|ABCA7_ENST00000433129.1_Missense_Mutation_p.R367W	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	21	21	0	93	367					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		ACCTGGAGGCCGGGACCACAT	0.657000													1	1	1	1	1	1	1.000000	23	25	0	104	1	9.092927e-01	3	4	0	104	5
CTD-2207O23.3	0	broad.mit.edu	37	19	7516088	7516088	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:7516088C>T	ENST00000593531.1	+	9	1100	c.1100C>T	c.(1099-1101)tCc>tTc	p.S367F	ARHGEF18_ENST00000359920.6_Silent_p.L409L|ARHGEF18_ENST00000319670.9_Silent_p.L251L						16	14	0	51																		AGTGCATTCTCCTGGTTACAC	0.542000													1	1	1	1	1	1	0.999994	16	14	0	54	1	9.993551e-01	11	6	0	54	5
MYO1F	4542	broad.mit.edu	37	19	8609289	8609289	+	Silent	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:8609289G>A	ENST00000338257.8	-	14	1683	c.1416C>T	c.(1414-1416)ggC>ggT	p.G472G		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	13	19	0	70	472	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CTGCTCCCCCGCCCGTGGCGT	0.667000													1	1	1	1	0	1	0.999862	13	20	0	71	0	6.493416e-01	0	5	0	71	4
ATP4A	495	broad.mit.edu	37	19	36047934	36047934	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:36047934C>G	ENST00000262623.3	-	12	1778	c.1750G>C	c.(1750-1752)Gta>Cta	p.V584L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	41	149	0	88	584					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	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)	ATGGCCTCTACGTCGAAGGCA	0.592000													1	1	1	1	1	1	1.000000	48	161	0	95	0	0	0	0	0	95	5
PRODH2	58510	broad.mit.edu	37	19	36297437	36297437	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:36297437C>A	ENST00000301175.3	-	8	1141	c.1124G>T	c.(1123-1125)gGa>gTa	p.G375V		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	81	223	0	173	375					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	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)			CAGCTTCACTCCGAAGGCCAG	0.622000													1	1	1	1	1	1	1.000000	86	239	0	184	0	0	0	0	0	184	5
FCGBP	8857	broad.mit.edu	37	19	40411752	40411752	+	Silent	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:40411752G>A	ENST00000221347.6	-	7	3883	c.3876C>T	c.(3874-3876)gcC>gcT	p.A1292A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	75	137	1	258	1292	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	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)			CCTGCAGGACGGCAAACCGAT	0.632000													0	0	1	1	0	1	1.000000	75	139	1	141	0	0	0	0	1	141	2
IRF2BP1	26145	broad.mit.edu	37	19	46388153	46388153	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr19:46388153G>A	ENST00000302165.3	-	1	1223	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	5	167	0	119	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		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)		AACATCTGGCGAGCCACTGCC	0.592000													0	0	1	0	0	1	0.938368	5	186	0	127	1	9.888473e-01	12	320	0	127	1
TMX4	56255	broad.mit.edu	37	20	7963214	7963214	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr20:7963214T>C	ENST00000246024.2	-	8	949	c.734A>G	c.(733-735)gAg>gGg	p.E245G		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	9	25	0	29	245	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						tttttcctcctcCGCATCCTG	0.423000													1	1	1	1	1	1	0.998225	10	25	0	30	1	9.999966e-01	20	71	0	30	5
SYCP2	10388	broad.mit.edu	37	20	58489063	58489063	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr20:58489063T>C	ENST00000357552.3	-	12	1022	c.797A>G	c.(796-798)aAc>aGc	p.N266S	SYCP2_ENST00000371001.2_Missense_Mutation_p.N266S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	4	17	0	29	266					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTTACAAGGTTGAGAAATAT	0.299000													1	1	1	1	1	1	0.945659	5	17	0	32	0	1.669231e-01	1	2	0	32	5
TANGO2	128989	broad.mit.edu	37	22	20024591	20024591	+	Silent	SNP	A	A	G			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr22:20024591A>G	ENST00000456048.1	+	1	45	c.45A>G	c.(43-45)gaA>gaG	p.E15E	TANGO2_ENST00000479679.1_Intron|TANGO2_ENST00000401886.1_Intron|TANGO2_ENST00000447208.2_Intron|TANGO2_ENST00000432883.1_Intron|TANGO2_ENST00000420290.2_Intron|TANGO2_ENST00000398042.2_Intron|TANGO2_ENST00000434570.2_Silent_p.E51E|TANGO2_ENST00000327374.4_Intron|TANGO2_ENST00000401833.1_Silent_p.E51E					transport and golgi organization 2 homolog (Drosophila)	4	124	0	153																		AAAGACGTGAAGACTCAGCCA	0.602000													0	0	1	0	0	1	0.891486	4	135	0	161	1	7.194304e-02	9	3	0	161	1
KLHL34	257240	broad.mit.edu	37	X	21674488	21674488	+	Silent	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:21674488G>A	ENST00000379499.2	-	1	1960	c.1419C>T	c.(1417-1419)cgC>cgT	p.R473R		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	13	7	0	27	473										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						ACACAACACCGCGGTCCCCGA	0.701000													1	1	1	1	0	1	0.999991	15	10	0	28	0	0	0	0	0	28	4
MAGEB2	4113	broad.mit.edu	37	X	30236701	30236701	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:30236701C>T	ENST00000378988.4	+	2	105	c.4C>T	c.(4-6)Cct>Tct	p.P2S		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	6	38	0	58	2							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AGCCATCATGCCTCGTGGTCA	0.527000													1	0	1	1	1	1	0.968206	6	44	0	66	0	0	0	0	0	66	4
UBA1	7317	broad.mit.edu	37	X	47074220	47074220	+	Silent	SNP	G	G	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:47074220G>A	ENST00000335972.6	+	26	3252	c.3069G>A	c.(3067-3069)tcG>tcA	p.S1023S	UBA1_ENST00000377351.4_Silent_p.S1023S|UBA1_ENST00000377269.3_Silent_p.S471S	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	7	215	0	82	1023					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCCGTGTGTCGAAGCGAAAGC	0.602000													0	0	1	0	0	1	0.981066	7	229	0	84	1	9.999998e-01	39	1831	0	84	1
ZNF711	7552	broad.mit.edu	37	X	84526455	84526455	+	Missense_Mutation	SNP	A	A	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chrX:84526455A>T	ENST00000360700.4	+	10	2931	c.2045A>T	c.(2044-2046)aAg>aTg	p.K682M	ZNF711_ENST00000542798.1_Missense_Mutation_p.K478M|ZNF711_ENST00000395402.1_Missense_Mutation_p.K644M|ZNF711_ENST00000373165.3_Missense_Mutation_p.K636M|ZNF711_ENST00000276123.3_Missense_Mutation_p.K636M			Q9Y462	ZN711_HUMAN	zinc finger protein 711	7	45	0	67	636				RCK -> GCT (in Ref. 4; CAA39837).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GAGCTCAAAAAGCATAGTGAT	0.403000													1	1	1	1	1	1	0.991094	8	51	0	67	0	9.721906e-01	0	44	0	67	5
TTN	7273	broad.mit.edu	37	2	179433890	179433891	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr2:179433890_179433891insA	ENST00000589042.1	-	326	77192_77193	c.76968_76969insT	c.(76966-76971)caagaafs	p.QE25656fs	TTN_ENST00000359218.5_Frame_Shift_Ins_p.QE16716fs|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.QE16591fs|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.QE24015fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.QE23088fs|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.QE16783fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	122	74	1	274	24015	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGAATTCTTATGGCAGTTAG	0.406000													1	0	0	1	0	1	1.000000	122	197	1	277	0	4.951376e-01	0	4	1	277	2
WNK1	65125	broad.mit.edu	37	12	993331	993345	+	In_Frame_Del	DEL	AGGCGGTTTATAGTG	AGGCGGTTTATAGTG	-			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:993331_993345delAGGCGGTTTATAGTG	ENST00000537687.1	+	18	5189_5203	c.4546_4560delAGGCGGTTTATAGTG	c.(4546-4560)del	p.RRFIV1516del	WNK1_ENST00000530271.2_In_Frame_Del_p.RRFIV1754del|WNK1_ENST00000315939.6_In_Frame_Del_p.RRFIV1256del|WNK1_ENST00000535572.1_In_Frame_Del_p.RRFIV1009del|WNK1_ENST00000340908.4_In_Frame_Del_p.RRFIV849del	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	4	84	0	131	1256					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	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)			TTCTGCGGGAAGGCGGTTTATAGTGAGTCCTGTGC	0.363000													1	0	0	1	0	1	0.939302	5	88	0	131	0	2.689496e-01	0	16	0	131	2
USP15	9958	broad.mit.edu	37	12	62798013	62798014	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N9-A4PZ-01A-22D-A28R-08	TCGA-N9-A4PZ-11A-11D-A28U-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	890d1036-212b-411e-8b07-36d70d5dd880	54e22e93-595e-4bde-8e35-edcb044c0479	g.chr12:62798013_62798014insT	ENST00000280377.5	+	22	2862_2863	c.2804_2805insT	c.(2803-2805)attfs	p.I935fs	USP15_ENST00000353364.3_Frame_Shift_Ins_p.I906fs|USP15_ENST00000393654.3_Frame_Shift_Ins_p.I910fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	68	61	2	176	935					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGACAAGACACTTTCAGTGGAA	0.386000													1	0	0	1	0	1	1.000000	68	136	2	180	1	1	27	62	2	180	2
AMY2A	279	broad.mit.edu	37	1	104160643	104160643	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:104160643C>A	ENST00000414303.2	+	2	300	c.236C>A	c.(235-237)cCa>cAa	p.P79Q		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	23	230	0	365	79					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		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)	AGATACCAACCAGTTAGCTAT	0.353000													1	1	1	1	0	1	1.000000	24	241	0	367	0	0	0	0	0	367	4
PI4KB	5298	broad.mit.edu	37	1	151271532	151271532	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:151271532C>A	ENST00000368875.2	-	10	2383	c.1803G>T	c.(1801-1803)gaG>gaT	p.E601D	PI4KB_ENST00000529142.1_Missense_Mutation_p.E257D|PI4KB_ENST00000368872.1_Missense_Mutation_p.E574D|PI4KB_ENST00000271657.5_Missense_Mutation_p.E601D|PI4KB_ENST00000368873.1_Missense_Mutation_p.E589D|PI4KB_ENST00000368874.4_Missense_Mutation_p.E574D	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	31	87	1	92	589	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			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	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)			GGGGCACTCGCTCCTGTTCCC	0.473000													1	0	1	1	1	1	0.999999	32	92	1	97	1	9.999698e-01	18	64	1	97	4
OR2M2	391194	broad.mit.edu	37	1	248344089	248344089	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:248344089C>G	ENST00000359682.2	+	1	802	c.802C>G	c.(802-804)Cca>Gca	p.P268A		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	101	138	0	240	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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)			TGATCACTCCCCAACGCAGGA	0.502000													1	1	1	1	1	1	1.000000	104	141	0	243	0	0	0	0	0	243	5
OR2T4	127074	broad.mit.edu	37	1	248525481	248525481	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr1:248525481T>C	ENST00000366475.1	+	1	599	c.599T>C	c.(598-600)tTc>tCc	p.F200S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	65	183	0	227	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			ACCTTCCCCTTCCGTGGATCC	0.493000													1	1	1	1	1	1	1.000000	66	191	0	242	0	0	0	0	0	242	5
NEB	4703	broad.mit.edu	37	2	152432754	152432754	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr2:152432754G>A	ENST00000397345.3	-	106	17021	c.16819C>T	c.(16819-16821)Cgg>Tgg	p.R5607W	NEB_ENST00000409198.1_Missense_Mutation_p.R3906W|NEB_ENST00000172853.10_Missense_Mutation_p.R3906W|NEB_ENST00000427231.2_Missense_Mutation_p.R5607W|NEB_ENST00000604864.1_Missense_Mutation_p.R5607W|NEB_ENST00000603639.1_Missense_Mutation_p.R5607W	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	51	25	0	89	5618					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			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACAGGCGTCCGATAGACACTG	0.448000													1	1	1	1	1	1	1.000000	53	27	0	94	0	4.363797e-01	0	2	0	94	5
FAP	2191	broad.mit.edu	37	2	163099498	163099498	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr2:163099498C>G	ENST00000188790.4	-	2	218	c.11G>C	c.(10-12)tGg>tCg	p.W4S	FAP_ENST00000443424.1_Missense_Mutation_p.W4S	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	4	11	0	27	4					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			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GATTTTTACCCAAGTCTACAT	0.388000													1	0	1	1	1	1	0.900136	4	11	0	31	0	9.803922e-02	0	2	0	31	4
NCKAP1	10787	broad.mit.edu	37	2	183866921	183866921	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr2:183866921C>G	ENST00000360982.2	-	6	1222	c.464G>C	c.(463-465)cGa>cCa	p.R155P	NCKAP1_ENST00000361354.3_Missense_Mutation_p.R149P	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	5	35	0	62	149					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	p.R155Q(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCTTCAATTCGAGACAGCAG	0.313000													1	0	1	1	1	1	0.941496	5	38	0	65	1	4.285151e-01	3	8	0	65	4
OR5H2	79310	broad.mit.edu	37	3	98002239	98002239	+	Silent	SNP	A	A	C			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:98002239A>C	ENST00000355273.2	+	1	508	c.508A>C	c.(508-510)Aga>Cga	p.R170R	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	25	60	0	63	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTTATATTCAGATTAACCTT	0.328000													1	1	1	1	1	1	1.000000	29	61	0	70	0	0	0	0	0	70	5
STXBP5L	9515	broad.mit.edu	37	3	121100275	121100275	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:121100275G>T	ENST00000273666.6	+	23	2826	c.2555G>T	c.(2554-2556)tGt>tTt	p.C852F	STXBP5L_ENST00000492541.1_Missense_Mutation_p.C852F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.C828F|STXBP5L_ENST00000497029.1_Missense_Mutation_p.C826F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.C828F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	55	83	0	147	852					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATCTCTCCTTGTCTGTTCGTT	0.408000													1	1	1	1	1	1	1.000000	62	90	0	159	0	0	0	0	0	159	5
NCK1	4690	broad.mit.edu	37	3	136667191	136667191	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:136667191C>T	ENST00000469404.1	+	3	929	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000481752.1_Missense_Mutation_p.R344C|NCK1_ENST00000288986.2_Missense_Mutation_p.R344C	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	19	32	0	56	344					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			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CATTGGGCAGCGTAAATTCAG	0.348000													1	1	1	1	1	1	0.999999	20	32	0	59	1	1	21	63	0	59	5
CP	1356	broad.mit.edu	37	3	148916171	148916171	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:148916171G>T	ENST00000264613.6	-	9	1958	c.1696C>A	c.(1696-1698)Cat>Aat	p.H566N	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	6	48	0	48	566	F5/8 type A 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		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)	CCATTTGCATGTAAACTTCCT	0.353000													1	0	1	1	1	1	0.982864	7	52	0	54	0	1.903755e-02	0	2	0	54	4
SI	6476	broad.mit.edu	37	3	164741472	164741472	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:164741472T>C	ENST00000264382.3	-	26	3047	c.2985A>G	c.(2983-2985)atA>atG	p.I995M		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	7	61	0	66	995	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			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGTCAGCTGTTATACCCATGG	0.403000										HNSCC(35;0.089)			1	1	1	1	1	1	0.990767	8	64	0	74	0	0	0	0	0	74	5
MCF2L2	23101	broad.mit.edu	37	3	183041097	183041097	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:183041097C>A	ENST00000328913.3	-	6	826	c.529G>T	c.(529-531)Gac>Tac	p.D177Y	MCF2L2_ENST00000414362.2_Missense_Mutation_p.D177Y|MCF2L2_ENST00000447025.2_Missense_Mutation_p.D177Y|MCF2L2_ENST00000473233.1_Missense_Mutation_p.D177Y	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	21	174	0	89	177	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	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)			TGGCTTTTGTCGATGTAGCCG	0.423000													1	1	1	1	0	1	1.000000	23	194	0	100	0	0	0	0	0	100	4
RFC4	5984	broad.mit.edu	37	3	186510374	186510374	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:186510374A>G	ENST00000392481.2	-	7	861	c.580T>C	c.(580-582)Tgt>Cgt	p.C194R	RFC4_ENST00000433496.1_Missense_Mutation_p.C194R|RFC4_ENST00000296273.2_Missense_Mutation_p.C194R	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	20	240	0	134	194					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(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AATTTTGAACATCTAGAGGTC	0.363000													1	1	1	1	0	1	0.999998	21	254	0	147	1	9.999993e-01	35	267	0	147	4
ZNF518B	85460	broad.mit.edu	37	4	10446750	10446750	+	Missense_Mutation	SNP	T	T	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr4:10446750T>G	ENST00000326756.3	-	3	1641	c.1203A>C	c.(1201-1203)gaA>gaC	p.E401D		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	8	151	0	143	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ACTTTGTTTTTTCTGCAGAAA	0.378000													1	1	1	1	0	1	0.989929	8	155	0	151	0	1.803013e-02	0	4	0	151	4
TMPRSS11F	389208	broad.mit.edu	37	4	68956262	68956262	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr4:68956262C>G	ENST00000356291.2	-	3	320	c.261G>C	c.(259-261)agG>agC	p.R87S		NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	4	18	0	30	87	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TCTGATGACTCCTTTCTATAA	0.294000													1	0	1	1	1	1	0.895903	4	21	0	32	0	0	0	0	0	32	4
SCLT1	132320	broad.mit.edu	37	4	129867279	129867279	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr4:129867279C>T	ENST00000281142.5	-	16	1825	c.1322G>A	c.(1321-1323)aGt>aAt	p.S441N	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	9	5	0	31	441			S -> C (in dbSNP:rs10028124).			centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCTGTAATCACTCTCATTTCC	0.348000													1	1	1	1	1	1	0.999918	12	6	0	33	1	9.999181e-01	12	6	0	33	5
FAM50B	26240	broad.mit.edu	37	6	3850736	3850736	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr6:3850736G>A	ENST00000380274.1	+	1	1117	c.691G>A	c.(691-693)Ggc>Agc	p.G231S	FAM50B_ENST00000380272.3_Missense_Mutation_p.G231S			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	85	77	0	119	231						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCGCTCCGCCGGCGTGGAGCA	0.657000													1	1	1	1	1	1	1.000000	88	81	0	128	0	9.999996e-01	0	27	0	128	5
CAP2	10486	broad.mit.edu	37	6	17556635	17556635	+	Missense_Mutation	SNP	T	T	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr6:17556635T>G	ENST00000229922.2	+	13	1928	c.1396T>G	c.(1396-1398)Tcc>Gcc	p.S466A	CAP2_ENST00000493172.1_Missense_Mutation_p.S206A|CAP2_ENST00000378990.2_Missense_Mutation_p.S440A|CAP2_ENST00000465994.1_Missense_Mutation_p.S402A|CAP2_ENST00000489374.1_Missense_Mutation_p.S354A	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	32	39	0	64	466					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ATGGGATGGATCCAAGTTAAT	0.403000													1	1	1	1	1	1	1.000000	39	45	0	79	1	1	118	110	0	79	5
MMS22L	253714	broad.mit.edu	37	6	97681791	97681791	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr6:97681791C>A	ENST00000275053.4	-	12	1513	c.1248G>T	c.(1246-1248)tgG>tgT	p.W416C	MMS22L_ENST00000369251.2_Intron	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	28	20	0	55	416					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTTTGGCTCCCAGAAATCAC	0.323000													1	1	1	1	1	1	1.000000	29	21	0	59	0	0	0	1	0	59	5
SDK1	221935	broad.mit.edu	37	7	4119118	4119118	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr7:4119118C>A	ENST00000404826.2	+	22	3365	c.3226C>A	c.(3226-3228)Ctg>Atg	p.L1076M	SDK1_ENST00000389531.3_Missense_Mutation_p.L1076M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	90	20	0	204	1076	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		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)		CCCATCCAACCTGGTCATTTC	0.547000													1	1	1	1	1	1	1.000000	99	21	0	217	0	0	0	0	0	217	5
AMPH	273	broad.mit.edu	37	7	38457436	38457436	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr7:38457436C>G	ENST00000356264.2	-	17	1602	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	AMPH_ENST00000471913.1_Intron|AMPH_ENST00000428293.2_Intron|AMPH_ENST00000325590.5_Intron	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	26	30	0	91	463					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACTGCCTCCTCCACTGGCTCC	0.602000													1	1	1	1	1	1	1.000000	29	32	0	93	0	0	0	1	0	93	5
ZC3H3	23144	broad.mit.edu	37	8	144620650	144620650	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr8:144620650G>A	ENST00000262577.5	-	2	918	c.887C>T	c.(886-888)tCg>tTg	p.S296L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	50	98	0	217	296					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	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)			CACAACCAGCGAGGCCTCCCG	0.627000													1	1	1	1	1	1	1.000000	54	103	0	243	1	9.996353e-01	6	21	0	243	5
HEPHL1	341208	broad.mit.edu	37	11	93797646	93797646	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr11:93797646G>A	ENST00000315765.9	+	4	786	c.778G>A	c.(778-780)Gct>Act	p.A260T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	21	3	0	41	260	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAAGAAAGATGCTGTTTTCCA	0.378000													1	1	1	1	1	1	1.000000	23	4	0	44	0	0	0	0	0	44	5
KIF21A	55605	broad.mit.edu	37	12	39735322	39735322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr12:39735322C>A	ENST00000395670.3	-	14	2325	c.1906G>T	c.(1906-1908)Gaa>Taa	p.E636*	KIF21A_ENST00000541463.2_Nonsense_Mutation_p.E623*|KIF21A_ENST00000361418.5_Nonsense_Mutation_p.E636*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.E623*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.E623*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	17	19	0	36	636					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCATCTGATTCAGAATCTGAT	0.388000													1	0	1	1	1	1	0.999998	18	20	0	41	0	0	0	0	0	41	4
ZC3H13	23091	broad.mit.edu	37	13	46553965	46553965	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr13:46553965C>T	ENST00000242848.4	-	11	2243	c.1895G>A	c.(1894-1896)cGt>cAt	p.R632H	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R632H			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	16	103	0	100	632	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		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)		TCTGTTGTCACGACGGTCTCG	0.373000													1	1	1	1	1	1	0.999953	16	113	0	110	1	7.951717e-01	4	19	0	110	5
RNASEH2B	79621	broad.mit.edu	37	13	51530513	51530513	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr13:51530513C>T	ENST00000336617.3	+	11	1241	c.842C>T	c.(841-843)gCa>gTa	p.A281V	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Intron	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	4	1	0	19	281					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		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)		AAAATGACTGCAGCTCAGAAG	0.289000													1	0	1	1	0	1	0.932900	4	1	0	24	0	9.999634e-01	1	8	0	24	3
KLF5	688	broad.mit.edu	37	13	73636638	73636638	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr13:73636638C>T	ENST00000377687.4	+	2	1437	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	KLF5_ENST00000539231.1_Missense_Mutation_p.P210S|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	28	19	0	113	301			P -> S (in a colorectal cancer sample; somatic mutation).		transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.P301S(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CACTTACTTTCCCCCGTCACC	0.512000													1	1	1	1	1	1	1.000000	29	20	0	116	1	9.438184e-01	6	0	0	116	5
HOMEZ	57594	broad.mit.edu	37	14	23746240	23746240	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr14:23746240C>G	ENST00000357460.5	-	2	361	c.197G>C	c.(196-198)aGc>aCc	p.S66T	HOMEZ_ENST00000561013.1_Missense_Mutation_p.S68T|HOMEZ_ENST00000431326.2_Missense_Mutation_p.S68T	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	18	60	0	131	66						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTGTTCATTGCTGTCTAGCTC	0.537000													1	1	1	1	0	1	0.999996	19	61	0	143	0	4.484267e-01	0	6	0	143	4
RALGAPA1	253959	broad.mit.edu	37	14	36128374	36128374	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr14:36128374G>A	ENST00000258840.6	-	28	4370	c.3980C>T	c.(3979-3981)tCg>tTg	p.S1327L	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S1280L|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S1280L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S1293L			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	12	3	0	35	1280	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCTCTTGCCGAGCTTAATAC	0.353000													1	1	1	1	1	1	0.999999	15	3	0	39	0	0	0	0	0	39	5
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr17:7578271T>C	ENST00000420246.2	-	6	710	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	52	4	0	92	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TCGGATAAGATGCTGAGGAGG	0.562000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	56	4	0	97	1	1	44	1	0	97	5
ABCA9	10350	broad.mit.edu	37	17	67022537	67022537	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr17:67022537C>T	ENST00000340001.4	-	16	2333	c.2122G>A	c.(2122-2124)Ggc>Agc	p.G708S	ABCA9_ENST00000370732.2_Missense_Mutation_p.G708S|ABCA9_ENST00000453985.2_Missense_Mutation_p.G708S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	299	22	0	265	708	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TAGCCTATGCCCCATTTCTTC	0.423000													1	1	1	1	1	1	1.000000	328	25	0	303	0	0	0	0	0	303	5
ITGB4	3691	broad.mit.edu	37	17	73732658	73732658	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr17:73732658C>T	ENST00000200181.3	+	16	2060	c.1873C>T	c.(1873-1875)Ctc>Ttc	p.L625F	ITGB4_ENST00000579662.1_Missense_Mutation_p.L625F|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.L625F|ITGB4_ENST00000450894.3_Missense_Mutation_p.L625F|ITGB4_ENST00000449880.2_Missense_Mutation_p.L625F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	12	42	0	20	625				IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345).	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			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	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)			CCACCCGGGCCTCTGCGAGGA	0.657000													1	1	1	1	1	1	0.999866	14	52	0	23	0	0	0	1	0	23	5
AC104534.3	0	broad.mit.edu	37	19	39330769	39330769	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr19:39330769G>A	ENST00000594769.1	-	1	49	c.50C>T	c.(49-51)tCa>tTa	p.S17L	HNRNPL_ENST00000221419.5_Silent_p.F400F|HNRNPL_ENST00000600873.1_Silent_p.F267F						44	9	0	103									p.F267F(1)|p.F400F(1)									AGAAGACATTGAAGACTCGGT	0.577000													1	1	1	1	1	1	1.000000	52	10	0	123	1	1	238	15	0	123	5
NCOA6	23054	broad.mit.edu	37	20	33328602	33328602	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr20:33328602C>T	ENST00000374796.2	-	12	8028	c.5458G>A	c.(5458-5460)Gtg>Atg	p.V1820M	NCOA6_ENST00000359003.2_Missense_Mutation_p.V1820M			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	62	46	0	122	1820	EP300/CRSP3-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			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ATTTTGTCCACTTTTCCTTTG	0.468000													1	1	1	1	1	1	1.000000	63	49	0	127	1	1	45	29	0	127	5
CTNNBL1	56259	broad.mit.edu	37	20	36488358	36488358	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr20:36488358C>T	ENST00000405275.2	+	15	1612	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	CTNNBL1_ENST00000373469.1_Missense_Mutation_p.R232W|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.R484W|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.R297W			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	30	16	0	41	484					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTTCTACCTCCGGCGCCTGGA	0.537000													1	1	1	1	0	1	1.000000	30	18	0	43	1	1	342	174	0	43	4
SALL4	57167	broad.mit.edu	37	20	50407647	50407647	+	Missense_Mutation	SNP	G	G	A	rs144505438		TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr20:50407647G>A	ENST00000217086.4	-	2	1486	c.1375C>T	c.(1375-1377)Ctc>Ttc	p.L459F	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	33	77	0	163	459					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGTACAGAGAGTGCATAGGGG	0.537000													1	1	1	1	1	1	1.000000	36	84	0	176	0	2.221498e-01	0	3	0	176	5
DSCAM	1826	broad.mit.edu	37	21	41741044	41741044	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr21:41741044C>T	ENST00000400454.1	-	4	1114	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	28	38	0	63	213	Ig-like C2-type 2.				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			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAAGTCTGGCGCTGTTGCTC	0.428000													1	1	1	1	1	1	1.000000	32	40	0	67	0	0	0	0	0	67	5
HDX	139324	broad.mit.edu	37	X	83724416	83724416	+	Silent	SNP	G	G	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chrX:83724416G>T	ENST00000297977.5	-	3	426	c.315C>A	c.(313-315)gtC>gtA	p.V105V	HDX_ENST00000373177.2_Silent_p.V105V|HDX_ENST00000506585.2_Silent_p.V47V	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	22	9	0	109	105						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CAGTTACAATGACATCATTAT	0.413000													1	1	1	1	1	1	1.000000	22	9	0	113	1	4.919786e-01	2	0	0	113	5
ALCAM	214	broad.mit.edu	37	3	105260569	105260570	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr3:105260569_105260570insA	ENST00000306107.5	+	8	1451_1452	c.951_952insA	c.(949-954)gaaaaafs	p.EK317fs	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Frame_Shift_Ins_p.EK317fs|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Frame_Shift_Ins_p.EK266fs	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	30	39	0	60	317	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CCCTGATAGACAAAAAAAGCAT	0.426000													1	1	1	1	0	1	1.000000	30	70	0	60							4
ADCK2	90956	broad.mit.edu	37	7	140373825	140373825	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr7:140373825delT	ENST00000072869.4	+	1	873	c.695delT	c.(694-696)ctfs	p.L232fs	ADCK2_ENST00000476491.1_Frame_Shift_Del_p.L232fs	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	39	107	0	134	232	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GTCCAGAGACTTGGCAGGGCC	0.582000													1	1	1	1	0	1	1.000000	39	150	0	135	1	9.980084e-01	2	38	0	135	4
PLEKHG6	55200	broad.mit.edu	37	12	6436668	6436670	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr12:6436668_6436670delCTC	ENST00000449001.2	+	14	2317_2319	c.1823_1825delCTC	c.(1822-1827)gct>g	p.AP608del	PLEKHG6_ENST00000011684.7_In_Frame_Del_p.AP640del|PLEKHG6_ENST00000304581.8_In_Frame_Del_p.AP170del|PLEKHG6_ENST00000396988.3_In_Frame_Del_p.AP640del	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	41	51	0	72	640					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GACCCCCAAGCTCCTCAACGCCG	0.640000													1	1	1	1	0	1	1.000000	44	95	0	69	0	2.421986e-01	0	3	0	69	4
SOX5	6660	broad.mit.edu	37	12	23699267	23699268	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr12:23699267_23699268insT	ENST00000546136.1	-	11	1542_1543	c.1540_1541insA	c.(1540-1542)gagfs	p.E514fs	SOX5_ENST00000451604.2_Frame_Shift_Ins_p.E527fs|SOX5_ENST00000381381.2_Frame_Shift_Ins_p.E406fs|SOX5_ENST00000396007.2_Frame_Shift_Ins_p.E141fs|SOX5_ENST00000545921.1_Frame_Shift_Ins_p.E517fs|SOX5_ENST00000541536.1_Frame_Shift_Ins_p.E406fs|SOX5_ENST00000309359.1_Frame_Shift_Ins_p.E514fs|SOX5_ENST00000537393.1_Frame_Shift_Ins_p.E492fs			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	30	38	0	72	527				E -> Q (in Ref. 4; AAB49537).	transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ATCTCCACTCAGATTGAAATCC	0.337000													1	1	1	1	0	1	1.000000	30	70	0	73	1	4.777152e-01	2	3	0	73	4
PARPBP	55010	broad.mit.edu	37	12	102590065	102590066	+	In_Frame_Ins	INS	-	-	ATA			TCGA-N9-A4Q1-01A-11D-A28R-08	TCGA-N9-A4Q1-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4b4c142-2d19-4ab4-92a4-ba0e6d8e8ed2	2a7a47d8-6e46-43e3-8262-9f7444070369	g.chr12:102590065_102590066insATA	ENST00000327680.2	+	12	1956_1957	c.1493_1494insATA	c.(1492-1494)cta>cATAta	p.498_498L>HI	PARPBP_ENST00000392911.2_In_Frame_Ins_p.498_498L>HI|PARPBP_ENST00000543784.1_3'UTR|PARPBP_ENST00000541394.1_In_Frame_Ins_p.656_656L>HI|PARPBP_ENST00000358383.5_In_Frame_Ins_p.579_579L>HI|PARPBP_ENST00000535811.1_3'UTR|PARPBP_ENST00000378128.3_3'UTR	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	29	33	0	36	579					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						TTTTTTAGACTATAAATTTGTG	0.312000													1	1	1	1	0	1	1.000000	29	65	0	39	0	6.004944e-01	0	6	0	39	4
TGFBR3	7049	broad.mit.edu	37	1	92178081	92178081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:92178081C>A	ENST00000212355.4	-	13	2350	c.1885G>T	c.(1885-1887)Gaa>Taa	p.E629*	TGFBR3_ENST00000370399.2_Nonsense_Mutation_p.E628*|TGFBR3_ENST00000525962.1_Nonsense_Mutation_p.E629*	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	11	34	0	50	629	ZP.				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			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGTTCTTGTTCAGCCTTAGTA	0.383000													1	1	1	1	1	1	0.999776	13	36	0	54	0	1.897464e-01	0	3	0	54	5
FLG	2312	broad.mit.edu	37	1	152284630	152284630	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:152284630G>A	ENST00000368799.1	-	3	2767	c.2732C>T	c.(2731-2733)tCa>tTa	p.S911L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	131	492	0	532	911	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACGTGACCCTGAGTG	0.572000									Ichthyosis				1	1	1	1	1	1	1.000000	135	515	0	550	0	1.128180e-01	0	3	0	550	5
PPOX	5498	broad.mit.edu	37	1	161138253	161138253	+	Missense_Mutation	SNP	G	G	A	rs41270025		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:161138253G>A	ENST00000367999.4	+	6	769	c.503G>A	c.(502-504)cGt>cAt	p.R168H	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000352210.5_Missense_Mutation_p.R168H|PPOX_ENST00000535223.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	65	69	0	178	168			R -> C.		heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGTCTCTGCCGTGGAGTGTTT	0.512000													1	1	1	1	1	1	1.000000	69	77	0	192	1	1	9	47	0	192	5
TMEM63A	9725	broad.mit.edu	37	1	226065190	226065190	+	Missense_Mutation	SNP	A	A	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:226065190A>C	ENST00000366835.3	-	3	361	c.91T>G	c.(91-93)Tat>Gat	p.Y31D		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	17	22	0	50	31						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TTGTAGCAATAGGAGTCGTTG	0.612000											OREG0014291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	20	24	0	52	1	9.990564e-01	14	5	0	52	5
KIF26B	55083	broad.mit.edu	37	1	245530500	245530500	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr1:245530500C>T	ENST00000407071.2	+	3	1270	c.830C>T	c.(829-831)gCg>gTg	p.A277V	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	7	13	0	19	277					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	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)			AGCAATGGGGCGGAAAAGAAG	0.617000													1	1	1	1	1	1	0.994215	8	13	0	21	1	7.232999e-01	4	2	0	21	5
KANSL3	55683	broad.mit.edu	37	2	97271234	97271234	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:97271234C>G	ENST00000599854.1	-	15	1962	c.1495G>C	c.(1495-1497)Gaa>Caa	p.E499Q	KANSL3_ENST00000440133.1_Missense_Mutation_p.E406Q|KANSL3_ENST00000431828.1_Missense_Mutation_p.E586Q|KANSL3_ENST00000441706.2_Missense_Mutation_p.E499Q|KANSL3_ENST00000487070.1_5'UTR	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	87	52	0	64	612																	TCTGGTGGTTCTGATGAAATG	0.498000													1	1	1	1	1	1	1.000000	97	55	0	67	1	1	25	12	0	67	5
AFF3	3899	broad.mit.edu	37	2	100210708	100210708	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:100210708A>G	ENST00000317233.4	-	14	1650	c.1415T>C	c.(1414-1416)cTa>cCa	p.L472P	AFF3_ENST00000356421.2_Missense_Mutation_p.L497P|AFF3_ENST00000409579.1_Missense_Mutation_p.L497P|AFF3_ENST00000409236.1_Missense_Mutation_p.L472P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	17	153	0	274	472					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AACTTTGTTTAGCCATTTATC	0.453000													1	0	0	1	0	1	0.999996	20	168	0	307	0	0	0	1	0	307	2
IWS1	55677	broad.mit.edu	37	2	128262839	128262839	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:128262839C>T	ENST00000295321.4	-	3	899	c.640G>A	c.(640-642)Gag>Aag	p.E214K	IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.E221K|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	50	110	0	188	214	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GGAAGCTCCTCACTTTCAGAA	0.507000													1	1	1	1	1	1	1.000000	54	112	0	194	1	9.999968e-01	14	31	0	194	5
LRP2	4036	broad.mit.edu	37	2	170058203	170058203	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:170058203C>T	ENST00000263816.3	-	44	8672	c.8387G>A	c.(8386-8388)cGt>cAt	p.R2796H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	38	30	0	72	2796	LDL-receptor class A 18.				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			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				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)	GATAAACTCACGAGGTATGCA	0.433000													1	1	1	1	1	1	1.000000	42	30	0	73	0	0	0	0	0	73	5
EVX2	344191	broad.mit.edu	37	2	176944857	176944857	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr2:176944857T>A	ENST00000308618.4	-	3	1545	c.1409A>T	c.(1408-1410)gAc>gTc	p.D470V		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	4	2	0	12	470						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		CGGAGCCTCGTCCCTCTGGTC	0.726000													0	0	1	1	0	1	0.916084	4	3	0	12	0	0	0	0	0	12	2
MLH1	4292	broad.mit.edu	37	3	37067374	37067374	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:37067374G>A	ENST00000231790.2	+	12	1501	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	MLH1_ENST00000536378.1_Missense_Mutation_p.E188K|MLH1_ENST00000539477.1_Missense_Mutation_p.E188K|MLH1_ENST00000435176.1_Missense_Mutation_p.E331K|MLH1_ENST00000458205.2_Missense_Mutation_p.E188K|MLH1_ENST00000455445.2_Missense_Mutation_p.E188K	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	6	150	0	135	429	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCAGCAAGATGAGGAGATGCT	0.517000		1	D, Mis, N, F, S		colorectal, endometrial, ovarian, CNS	colorectal, endometrial, ovarian, CNS		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				0	0	1	0	0	1	0.965877	6	152	0	139	1	5.842238e-01	4	44	0	139	1
PROS1	5627	broad.mit.edu	37	3	93603724	93603724	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:93603724T>C	ENST00000394236.3	-	12	1656	c.1340A>G	c.(1339-1341)gAt>gGt	p.D447G	PROS1_ENST00000407433.1_Missense_Mutation_p.D316G	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	10	27	0	19	447	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			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TATACATCCATCTAGACGAGG	0.343000													1	1	1	1	1	1	0.998161	10	28	0	20	1	9.966878e-01	9	25	0	20	5
GPR128	84873	broad.mit.edu	37	3	100364805	100364805	+	Silent	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:100364805C>T	ENST00000273352.3	+	9	1231	c.963C>T	c.(961-963)tgC>tgT	p.C321C	GPR128_ENST00000475887.1_Silent_p.C26C	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	13	20	0	47	321					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CCAAGACATGCGGCTTTGTAG	0.308000													1	1	1	1	1	1	0.999974	15	20	0	50	0	0	0	0	0	50	5
ATR	545	broad.mit.edu	37	3	142168367	142168367	+	Silent	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr3:142168367C>T	ENST00000350721.4	-	47	7960	c.7839G>A	c.(7837-7839)ccG>ccA	p.P2613P	ATR_ENST00000383101.3_Silent_p.P2549P	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	19	18	0	48	2613	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			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAATAGATAACGGCAGTCCTG	0.398000								Other conserved DNA damage response genes					1	1	1	1	1	1	1.000000	20	18	0	51	1	1	54	53	0	51	5
LMBRD2	92255	broad.mit.edu	37	5	36118007	36118007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr5:36118007C>A	ENST00000296603.4	-	10	1594	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	22	7	0	38	378						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	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)			AAAAGACATTCCCAGTACCAT	0.358000													1	1	1	1	0	1	1.000000	22	7	0	40	0	0	0	0	0	40	4
RANBP17	64901	broad.mit.edu	37	5	170648770	170648770	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr5:170648770G>A	ENST00000523189.1	+	22	2512	c.2348G>A	c.(2347-2349)cGt>cAt	p.R783H	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	3	30	0	21	783					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	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)			AGATCCCAGCGTTTGAATTTT	0.328000			T	TRD@	ALL								0	0	1	0	0	1	0.812722	3	30	0	22	1	7.606855e-02	2	2	0	22	1
DGKB	1607	broad.mit.edu	37	7	14517813	14517813	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr7:14517813T>C	ENST00000403951.2	-	21	2230	c.1811A>G	c.(1810-1812)gAa>gGa	p.E604G	DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Missense_Mutation_p.E585G|DGKB_ENST00000399322.3_Missense_Mutation_p.E604G|DGKB_ENST00000407950.1_Missense_Mutation_p.E596G|DGKB_ENST00000402815.1_Missense_Mutation_p.E603G|DGKB_ENST00000258767.5_Missense_Mutation_p.E604G|DGKB_ENST00000406247.3_Missense_Mutation_p.E604G			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	4	5	0	11	604					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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGGGTGTTTTTCTCTCATGAT	0.343000													0	0	1	1	0	1	0.957430	5	5	0	11	0	0	0	0	0	11	2
FERD3L	222894	broad.mit.edu	37	7	19184612	19184612	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr7:19184612C>T	ENST00000275461.3	-	1	432	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	27	20	0	81	125	Helix-loop-helix motif.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						CACCTTCCTCCGCAGCTGGTC	0.587000													1	1	1	1	1	1	1.000000	30	22	0	93	0	0	0	0	0	93	5
CLIP2	7461	broad.mit.edu	37	7	73811495	73811495	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr7:73811495G>C	ENST00000223398.6	+	14	3139	c.2812G>C	c.(2812-2814)Gag>Cag	p.E938Q	CLIP2_ENST00000395060.1_Missense_Mutation_p.E938Q|CLIP2_ENST00000361545.5_Missense_Mutation_p.E903Q	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	13	101	0	118	938						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						ACACAAGGCTGAGTGGCGGAT	0.637000													1	1	1	1	1	1	0.999904	15	120	0	129	0	8.944514e-01	0	34	0	129	5
FER1L6	654463	broad.mit.edu	37	8	124985750	124985750	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr8:124985750C>G	ENST00000522917.1	+	7	730	c.524C>G	c.(523-525)cCt>cGt	p.P175R	FER1L6_ENST00000399018.1_Missense_Mutation_p.P175R	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	6	33	0	52	175						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TACAACCAACCTGGTAAGAAA	0.468000													1	0	1	1	1	1	0.968676	6	38	0	55	0	0	0	0	0	55	4
CYP26A1	0	broad.mit.edu	37	10	94836425	94836425	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr10:94836425G>A	ENST00000371531.1	+	6	1295	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	CYP26A1_ENST00000224356.4_Missense_Mutation_p.R375Q|CYP26A1_ENST00000394139.1_Missense_Mutation_p.R306Q	NM_057157.2	NP_476498.1	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	15	40	0	73	375					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			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				GGAGGGTTTCGGGTTGCTCTG	0.403000													1	1	1	1	1	1	0.999945	15	43	0	78	1	1	103	198	0	78	5
IGHMBP2	3508	broad.mit.edu	37	11	68700847	68700847	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr11:68700847C>T	ENST00000255078.3	+	9	1427	c.1316C>T	c.(1315-1317)aCg>aTg	p.T439M		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	5	14	0	31	439					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			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGGACACTGACGGTGCAGTAC	0.642000													1	0	1	1	0	1	0.946083	5	16	0	36	1	9.855553e-01	3	29	0	36	3
SERPINH1	871	broad.mit.edu	37	11	75282848	75282848	+	Missense_Mutation	SNP	T	T	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr11:75282848T>G	ENST00000524558.1	+	5	2412	c.977T>G	c.(976-978)cTg>cGg	p.L326R	SERPINH1_ENST00000358171.3_Missense_Mutation_p.L326R|SERPINH1_ENST00000525876.1_Missense_Mutation_p.L109R|SERPINH1_ENST00000533603.1_Missense_Mutation_p.L326R			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	23	17	0	63	326					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GGGCTGGGCCTGACTGAGGCC	0.597000													1	1	1	1	1	1	1.000000	27	18	0	70	1	1	1213	792	0	70	5
DPPA3	359787	broad.mit.edu	37	12	7867853	7867853	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr12:7867853G>T	ENST00000345088.2	+	2	274	c.157G>T	c.(157-159)Gtt>Ttt	p.V53F		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	28	98	0	62	53						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		TAGCGAATCTGTTTCCCCTCT	0.468000													1	1	1	1	1	1	1.000000	29	100	0	62	0	0	0	0	0	62	5
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	9	7	0	17	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			1	1	1	1	1	1	0.999738	11	7	0	17	1	9.951453e-01	7	4	0	17	5
FNDC3A	22862	broad.mit.edu	37	13	49772644	49772644	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr13:49772644G>T	ENST00000492622.2	+	23	3226	c.2921G>T	c.(2920-2922)gGa>gTa	p.G974V	FNDC3A_ENST00000541916.1_Missense_Mutation_p.G974V|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G918V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	21	50	0	84	974	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		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)		TGGGGAGAAGGAACTCCAAAG	0.403000													1	1	1	1	1	1	1.000000	23	53	0	96	1	9.744524e-01	6	11	0	96	5
PIBF1	10464	broad.mit.edu	37	13	73357694	73357694	+	Silent	SNP	T	T	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr13:73357694T>C	ENST00000326291.6	+	2	425	c.87T>C	c.(85-87)gtT>gtC	p.V29V		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	16	74	0	82	29						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAACAACAGTTCCTACGGATG	0.348000													1	1	1	1	1	1	0.999991	18	74	0	86	1	8.424704e-01	3	11	0	86	5
CDC42BPB	9578	broad.mit.edu	37	14	103418917	103418917	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr14:103418917G>C	ENST00000361246.2	-	24	3378	c.3090C>G	c.(3088-3090)atC>atG	p.I1030M		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	7	16	0	39	1030					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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		AGAAGGACTTGATGCTGAACT	0.547000													1	1	1	1	1	1	0.997050	9	16	0	44	1	9.986480e-01	10	19	0	44	5
TP53	7157	broad.mit.edu	37	17	7579591	7579591	+	Splice_Site	SNP	C	C	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			C	G	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:7579591C>G	ENST00000420246.2	-	4	229		c.e4-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	54	18	0	283						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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GCAAGGGGGACTGTAGATGGG	0.592000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	56	20	0	312	0	1	1	19	0	312	5
PSMD11	5717	broad.mit.edu	37	17	30806375	30806375	+	Missense_Mutation	SNP	A	A	G	rs1803015		TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:30806375A>G	ENST00000261712.3	+	10	1282	c.1019A>G	c.(1018-1020)gAg>gGg	p.E340G	PSMD11_ENST00000457654.2_Missense_Mutation_p.E340G	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	76	8	0	123	340	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			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CGAGTCATTGAGCCTTTTTCC	0.507000													1	1	1	1	1	1	1.000000	77	8	0	130	1	1	143	8	0	130	5
KRT33B	3884	broad.mit.edu	37	17	39521743	39521743	+	Silent	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:39521743G>A	ENST00000251646.3	-	4	700	c.651C>T	c.(649-651)ccC>ccT	p.P217P		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	5	40	0	50	217	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGTCCACAGCGGGAGCAGCGT	0.562000													1	0	1	1	0	1	0.941142	5	42	0	52	0	0	0	0	0	52	3
MPO	4353	broad.mit.edu	37	17	56355451	56355451	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:56355451C>A	ENST00000340482.3	-	6	1213	c.1037G>T	c.(1036-1038)cGc>cTc	p.R346L	MPO_ENST00000225275.3_Missense_Mutation_p.R314L|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	75	4	0	101	314					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			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CGGGCAGGAGCGGAAGAACGG	0.622000													1	1	1	1	1	1	1.000000	81	5	0	107	0	0	0	0	0	107	5
PITPNC1	26207	broad.mit.edu	37	17	65688807	65688807	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr17:65688807G>A	ENST00000335257.6	+	9	1149	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR|PITPNC1_ENST00000581322.1_Missense_Mutation_p.V268I			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	102	15	0	187	268					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.V268I(2)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCCTTCTTCCGTCCGCAGTGC	0.557000													1	1	1	1	1	1	1.000000	104	16	0	196	1	1	147	6	0	196	5
EMR1	2015	broad.mit.edu	37	19	6919630	6919630	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:6919630C>A	ENST00000312053.4	+	13	1529	c.1492C>A	c.(1492-1494)Cac>Aac	p.H498N	EMR1_ENST00000381407.5_Missense_Mutation_p.H357N|EMR1_ENST00000381404.4_Missense_Mutation_p.H446N|EMR1_ENST00000450315.3_Missense_Mutation_p.H321N|EMR1_ENST00000250572.8_Missense_Mutation_p.H498N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	27	57	0	104	498	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTCAAAGACCACCAGGCTCC	0.483000													1	1	1	1	1	1	1.000000	28	62	0	112	0	0	0	0	0	112	5
PRAM1	84106	broad.mit.edu	37	19	8564555	8564555	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:8564555T>A	ENST00000423345.4	-	2	657	c.137A>T	c.(136-138)aAg>aTg	p.K46M	PRAM1_ENST00000255612.3_Missense_Mutation_p.K46M			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	21	133	0	142	46	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTGGGAGAACTTCTTCAGTTT	0.592000													1	1	1	1	1	1	1.000000	23	139	0	149	0	5.957310e-02	0	3	0	149	5
CCDC130	81576	broad.mit.edu	37	19	13873409	13873409	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:13873409G>A	ENST00000586600.1	+	11	1221	c.718G>A	c.(718-720)Gag>Aag	p.E240K	CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.E240K			P13994	CC130_HUMAN	coiled-coil domain containing 130	14	15	0	53	240					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TCTAGCCTACGAGGACAAGCA	0.632000													1	1	1	1	1	1	0.999999	18	15	0	59	1	1	39	45	0	59	5
NDUFA13	51079	broad.mit.edu	37	19	19626917	19626917	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:19626917C>T	ENST00000252576.5	+	1	119	c.119C>T	c.(118-120)tCg>tTg	p.S40L	NDUFA13_ENST00000507754.3_5'UTR	NM_015965.6	NP_057049.5			NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	13	52	0	104											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CCCGCGCGGTCGGATAGTTAC	0.622000													1	1	1	1	1	1	0.999863	14	54	0	110	0	2.941460e-01	1	4	0	110	5
CTC-260F20.3	0	broad.mit.edu	37	19	19627058	19627058	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:19627058C>T	ENST00000555938.1	+	1	23	c.11C>T	c.(10-12)tCa>tTa	p.S4L	NDUFA13_ENST00000428459.2_Missense_Mutation_p.S4L|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000252576.5_Missense_Mutation_p.S87L|NDUFA13_ENST00000507754.3_Missense_Mutation_p.S4L|NDUFA13_ENST00000503283.1_Missense_Mutation_p.S4L						21	51	0	87																		ATGGCGGCGTCAAAGGTGAAG	0.612000													1	1	1	1	1	1	1.000000	25	58	0	95	1	1	27	748	0	95	5
CEP89	84902	broad.mit.edu	37	19	33414440	33414440	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:33414440C>T	ENST00000305768.4	-	12	1261	c.1173G>A	c.(1171-1173)atG>atA	p.M391I		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	42	282	0	88	391						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TAAACATTCTCATTTCCTCCT	0.388000													1	1	1	1	1	1	1.000000	50	312	0	96	0	9.997457e-01	0	79	0	96	5
PPP2R1A	5518	broad.mit.edu	37	19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr19:52715971C>G	ENST00000322088.6	+	5	594	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	37	42	0	103	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen 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	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	1.000000	47	50	0	106	1	1	257	456	0	106	5
TCF15	6939	broad.mit.edu	37	20	590483	590483	+	Silent	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr20:590483C>T	ENST00000246080.3	-	1	559	c.399G>A	c.(397-399)tcG>tcA	p.S133S		NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN	transcription factor 15 (basic helix-loop-helix)	7	6	0	18	133					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				CGTCGTCGGCCGAGTCGCCCA	0.741000													1	1	1	1	0	1	0.999329	10	7	0	19	1	9.999995e-01	15	31	0	19	4
MXRA5	25878	broad.mit.edu	37	X	3235472	3235472	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:3235472C>T	ENST00000217939.6	-	6	6404	c.6250G>A	c.(6250-6252)Ggg>Agg	p.G2084R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	13	10	0	34	2084	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTACCGTCCCCGAGCACCCAG	0.642000													1	1	1	1	1	1	0.999969	14	12	0	34	1	9.999908e-01	7	23	0	34	5
DSN1	79980	broad.mit.edu	37	20	35399395	35399409	+	In_Frame_Del	DEL	TGAAGGGACTTCGAC	TGAAGGGACTTCGAC	-			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chr20:35399395_35399409delTGAAGGGACTTCGAC	ENST00000426836.1	-	3	594_608	c.222_236delGTCGAAGTCCCTTCA	c.(220-237)cat>ca	p.QSKSLH74del	DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000448110.1_In_Frame_Del_p.QSKSLH58del|DSN1_ENST00000373745.3_In_Frame_Del_p.QSKSLH74del|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373750.4_In_Frame_Del_p.QSKSLH74del	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	44	129	0	164	74					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				AGGAGACAAATGAAGGGACTTCGACTGAAGTCTTT	0.498000													1	1	1	1	0	1	1.000000	45	162	0	162	0	9.224966e-01	0	18	0	162	4
FANCB	2187	broad.mit.edu	37	X	14862842	14862843	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:14862842_14862843insA	ENST00000398334.1	-	9	2214_2215	c.1947_1948insT	c.(1945-1950)ttcactfs	p.T650fs	FANCB_ENST00000324138.3_Frame_Shift_Ins_p.T650fs	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	16	83	0	97	650					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GCAAGAAGTGCAAAAAGATCTT	0.347000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				1	1	1	1	0	1	0.999955	16	102	0	99	0	2.067583e-01	0	6	0	99	4
USP9X	8239	broad.mit.edu	37	X	41055894	41055895	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N9-A4Q3-01A-11D-A28R-08	TCGA-N9-A4Q3-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5063826c-65ef-461a-af85-577824a4bd4e	41b977af-1f55-410f-8858-f88c7c739a3f	g.chrX:41055894_41055895insA	ENST00000324545.7	+	28	4769_4770	c.4136_4137insA	c.(4135-4137)tagfs	p.*1379fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.*1379fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	13	43	0	30	1379					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			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTACTCTTTTAAGACACCTTC	0.347000													0	1	1	1	0	1	0.999712	13	56	0	31	0	8.249387e-01	1	15	0	31	3
SDC3	9672	broad.mit.edu	37	1	31347424	31347424	+	Silent	SNP	T	T	C			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:31347424T>C	ENST00000336798.7	-	2	2200	c.708A>G	c.(706-708)ccA>ccG	p.P236P	SDC3_ENST00000339394.6_Silent_p.P294P			O75056	SDC3_HUMAN	syndecan 3	69	64	0	138	294	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		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)		GGAAGGTCTCTGGAGTTGGGG	0.597000													1	1	1	1	1	1	1.000000	72	67	0	144	1	9.999999e-01	17	14	0	144	5
PUM1	9698	broad.mit.edu	37	1	31439111	31439111	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:31439111C>T	ENST00000373747.3	-	13	1906	c.1807G>A	c.(1807-1809)Gca>Aca	p.A603T	PUM1_ENST00000373741.4_Missense_Mutation_p.A638T|PUM1_ENST00000426105.2_Missense_Mutation_p.A602T|PUM1_ENST00000440538.2_Intron|PUM1_ENST00000257075.5_Missense_Mutation_p.A602T|PUM1_ENST00000424085.2_Missense_Mutation_p.A360T|PUM1_ENST00000423018.2_Missense_Mutation_p.A458T|PUM1_ENST00000373742.2_Missense_Mutation_p.A543T|PUM1_ENST00000490546.1_5'UTR	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	26	65	0	57	602	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		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)		GCTGAAGCTGCGGCTGCTGCA	0.473000													1	1	1	1	1	1	1.000000	28	66	0	65	1	9.842738e-01	2	17	0	65	5
YARS	8565	broad.mit.edu	37	1	33245093	33245093	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:33245093C>A	ENST00000373477.4	-	12	2274	c.1366G>T	c.(1366-1368)Gac>Tac	p.D456Y	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	49	39	1	70	456	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			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	GCCGGAGGGTCCAGAGGTTCA	0.542000													1	0	1	1	1	1	1.000000	50	41	1	74	1	1	114	124	1	74	4
OR6K2	81448	broad.mit.edu	37	1	158670014	158670014	+	Silent	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:158670014C>A	ENST00000359610.2	-	1	472	c.429G>T	c.(427-429)ctG>ctT	p.L143L		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	29	75	0	75	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AACTTAAAGTCAGTTGGGTAC	0.463000													1	1	1	1	1	1	1.000000	31	78	0	76	0	0	0	0	0	76	5
OR2M5	127059	broad.mit.edu	37	1	248308944	248308944	+	Silent	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:248308944C>A	ENST00000366476.1	+	1	495	c.495C>A	c.(493-495)tcC>tcA	p.S165S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	134	141	0	210	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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)			CGACATTTTCCTTCTCCTACT	0.448000													1	1	1	1	1	1	1.000000	139	150	0	216	0	0	0	0	0	216	5
MAP3K19	80122	broad.mit.edu	37	2	135745373	135745373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr2:135745373G>A	ENST00000375845.3	-	7	1099	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Nonsense_Mutation_p.R374*|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Nonsense_Mutation_p.R244*|MAP3K19_ENST00000392918.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19	19	16	0	39																		TCAGGTTTTCGCGTTTTACTA	0.378000													1	1	1	1	1	1	1.000000	19	16	0	40	0	0	0	0	0	40	5
FN1	2335	broad.mit.edu	37	2	216238117	216238117	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr2:216238117C>T	ENST00000354785.4	-	39	6544	c.6175G>A	c.(6175-6177)Gaa>Aaa	p.E2059K	FN1_ENST00000356005.4_Missense_Mutation_p.E1878K|FN1_ENST00000346544.3_Missense_Mutation_p.E1968K|FN1_ENST00000323926.6_Missense_Mutation_p.E2059K|FN1_ENST00000446046.1_Missense_Mutation_p.E1968K|FN1_ENST00000345488.5_Missense_Mutation_p.E1968K|FN1_ENST00000357867.4_Missense_Mutation_p.E1878K|FN1_ENST00000357009.2_Missense_Mutation_p.E1968K|FN1_ENST00000336916.4_Missense_Mutation_p.E1968K|FN1_ENST00000359671.1_Missense_Mutation_p.E1968K|FN1_ENST00000443816.1_Missense_Mutation_p.E1878K|FN1_ENST00000432072.2_Missense_Mutation_p.E1969K|FN1_ENST00000421182.1_Missense_Mutation_p.E1878K			P02751	FINC_HUMAN	fibronectin 1	4	84	0	100	1968	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	p.E1968K(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		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)	ATTGTATATTCGGTTCCCGGT	0.468000													0	0	1	0	0	1	0.891926	4	89	0	107	1	9.989646e-01	26	386	0	107	1
SPHKAP	80309	broad.mit.edu	37	2	228882546	228882546	+	Silent	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr2:228882546G>A	ENST00000392056.3	-	7	3070	c.3024C>T	c.(3022-3024)gaC>gaT	p.D1008D	SPHKAP_ENST00000344657.5_Silent_p.D1008D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	45	48	0	96	1008						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		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)		CAGGGTGCTCGTCCGTCTTCC	0.517000													1	1	1	1	1	1	1.000000	46	49	0	104	0	0	0	0	0	104	5
SH3TC2	79628	broad.mit.edu	37	5	148389871	148389871	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr5:148389871C>A	ENST00000538184.1	-	10	2818	c.1930G>T	c.(1930-1932)Ggg>Tgg	p.G644W	SH3TC2_ENST00000512049.1_Missense_Mutation_p.G1090W|SH3TC2_ENST00000515425.1_Missense_Mutation_p.G1097W			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	17	0	0	47	1097							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGGGTCCCATTGAAGAAC	0.552000													1	1	1	1	1	1	1.000000	19	2	0	57	0	0	0	0	0	57	5
HIVEP1	3096	broad.mit.edu	37	6	12121828	12121828	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr6:12121828C>A	ENST00000379388.2	+	4	2132	c.1800C>A	c.(1798-1800)aaC>aaA	p.N600K		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	51	49	0	96	600					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGGTGACAAACGTACAGCCAC	0.498000													1	1	1	1	1	1	1.000000	55	55	0	103	0	0	0	0	0	103	5
UTRN	7402	broad.mit.edu	37	6	144757091	144757091	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr6:144757091G>T	ENST00000367545.3	+	9	876	c.876G>T	c.(874-876)gaG>gaT	p.E292D		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	10	29	0	36	292	Interaction with SYNM.				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			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTGAGGAGGAGCATGAGAGTC	0.498000													1	1	1	1	1	1	0.998047	10	32	0	39	0	0	0	0	0	39	5
AHR	196	broad.mit.edu	37	7	17362140	17362140	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:17362140C>T	ENST00000242057.4	+	3	912	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	6	14	0	20	90					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			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTAAAATCCTCCCCTACTGAA	0.343000													1	1	1	1	1	1	0.973097	6	15	0	21	0	0	0	1	0	21	5
C7orf62	219557	broad.mit.edu	37	7	88423704	88423704	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:88423704G>T	ENST00000297203.2	-	2	738	c.553C>A	c.(553-555)Ctt>Att	p.L185I	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	7	102	0	92	185										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						GTCTGGCAAAGGTAGAGTGAC	0.428000													1	0	1	1	0	1	0.981706	7	107	0	98	0	0	0	0	0	98	3
MYL10	93408	broad.mit.edu	37	7	101265461	101265461	+	Missense_Mutation	SNP	G	G	T	rs140607004		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:101265461G>T	ENST00000223167.4	-	5	546	c.369C>A	c.(367-369)aaC>aaA	p.N123K		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	33	41	0	77	123						mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CCAGTTCCTCGTTCTTGACAT	0.597000													1	1	1	1	1	1	1.000000	34	44	0	84	1	1	18	48	0	84	5
MGAM	8972	broad.mit.edu	37	7	141708409	141708409	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:141708409T>A	ENST00000475668.2	+	3	285	c.231T>A	c.(229-231)gaT>gaA	p.D77E	MGAM_ENST00000549489.2_Missense_Mutation_p.D77E			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	25	31	0	37	77	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCCCCCAGATCCTGGAACAA	0.512000													1	1	1	1	1	1	1.000000	26	33	0	41	0	0	0	0	0	41	5
TAS2R41	259287	broad.mit.edu	37	7	143175364	143175364	+	Silent	SNP	C	C	G			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:143175364C>G	ENST00000408916.1	+	1	399	c.399C>G	c.(397-399)ctC>ctG	p.L133L	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	14	56	0	57	133					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGCCCTGGCTCCTGTTGGGCT	0.478000													1	1	1	1	1	1	0.999928	15	63	0	61	0	0	0	0	0	61	5
SCRIB	23513	broad.mit.edu	37	8	144885555	144885555	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr8:144885555C>A	ENST00000356994.2	-	24	3607	c.3601G>T	c.(3601-3603)Gag>Tag	p.E1201*	SCRIB_ENST00000377533.3_Nonsense_Mutation_p.E1120*|SCRIB_ENST00000320476.3_Nonsense_Mutation_p.E1201*	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	5	29	0	16	1201	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			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	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)			TCGCTAACCTCCAGGGCTGCG	0.711000													0	0	1	0	0	1	0.942461	5	30	0	17	1	9.999848e-01	15	241	0	17	1
IFNA16	3449	broad.mit.edu	37	9	21217162	21217162	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr9:21217162G>C	ENST00000380216.1	-	1	148	c.143C>G	c.(142-144)tCt>tGt	p.S48C		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	67	41	0	146	48					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			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGAGAAATGAGAGATTCTTCC	0.502000													1	1	1	1	1	1	1.000000	73	45	0	155	0	0	0	0	0	155	5
NOTCH1	4851	broad.mit.edu	37	9	139412690	139412690	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr9:139412690G>A	ENST00000277541.6	-	7	1229	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	5	18	0	30	385	EGF-like 10.				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			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTCGCAGTTGGAGCCCTCGTT	0.672000			T, Mis, O	TRB@	T-ALL					HNSCC(8;0.001)			1	0	1	1	1	1	0.944310	5	21	0	32	0	4.497563e-01	1	6	0	32	4
SVIL	6840	broad.mit.edu	37	10	29747234	29747234	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr10:29747234T>C	ENST00000375398.2	-	40	7036	c.6587A>G	c.(6586-6588)tAc>tGc	p.Y2196C	PTCHD3P1_ENST00000445521.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.Y1110C|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.Y1770C|SVIL_ENST00000355867.4_Missense_Mutation_p.Y2196C|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000438202.1_RNA			O95425	SVIL_HUMAN	supervillin	20	65	0	89	2196	HP.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CAGGGCGTTGTATTCATCCCT	0.572000													1	1	1	1	0	1	1.000000	23	70	0	99	1	1	81	163	0	99	4
OR5T1	390155	broad.mit.edu	37	11	56043798	56043798	+	Silent	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr11:56043798C>A	ENST00000313033.2	+	1	770	c.684C>A	c.(682-684)atC>atA	p.I228I		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	37	152	0	143	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTGTCCTGATCTCCTATGGTT	0.433000													1	1	1	1	1	1	1.000000	37	159	0	151	0	0	0	0	0	151	5
CD163L1	283316	broad.mit.edu	37	12	7550963	7550963	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr12:7550963G>T	ENST00000313599.3	-	7	1683	c.1626C>A	c.(1624-1626)gaC>gaA	p.D542E	CD163L1_ENST00000416109.2_Missense_Mutation_p.D552E|CD163L1_ENST00000396630.1_Missense_Mutation_p.D542E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	48	66	0	107	542	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCAAGAAACGTCATCCAGCC	0.413000													1	1	1	1	1	1	1.000000	51	70	0	113	0	0	0	0	0	113	5
PPFIBP1	8496	broad.mit.edu	37	12	27803070	27803070	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr12:27803070C>T	ENST00000318304.8	+	7	882	c.599C>T	c.(598-600)aCa>aTa	p.T200I	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.T200I|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.T47I|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.T200I	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	10	28	0	31	200					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TTCAGAGACACAGAGGTGAGT	0.428000													1	1	1	1	1	1	0.998074	10	31	0	34	0	0	0	0	0	34	5
PKM	5315	broad.mit.edu	37	15	72492887	72492887	+	Silent	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr15:72492887G>A	ENST00000319622.6	-	10	1873	c.1417C>T	c.(1417-1419)Ctg>Ttg	p.L473L	PKM_ENST00000389093.3_Silent_p.L473L|PKM_ENST00000568459.1_Silent_p.L473L|PKM_ENST00000568883.1_Silent_p.L308L|PKM_ENST00000565154.1_Silent_p.L473L|PKM_ENST00000565184.1_Silent_p.L473L|PKM_ENST00000335181.5_Silent_p.L473L|PKM_ENST00000449901.2_Silent_p.L458L	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle	56	59	0	116											endometrium(1)|lung(7)	8						TCCTTGCACAGCACAGGGAAG	0.632000													1	1	1	1	1	1	1.000000	62	61	0	124	1	1	648	841	0	124	5
AKAP13	11214	broad.mit.edu	37	15	86225393	86225393	+	Silent	SNP	A	A	G			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr15:86225393A>G	ENST00000394518.2	+	15	5201	c.5106A>G	c.(5104-5106)tcA>tcG	p.S1702S	AKAP13_ENST00000361243.2_Silent_p.S1706S|AKAP13_ENST00000394510.2_5'UTR|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	11	48	0	41	1702					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			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTCTAGATTCACGGCCCTTCC	0.338000													1	1	1	1	1	1	0.999417	12	54	0	43	0	9.712186e-02	0	3	0	43	5
MAPK8IP3	23162	broad.mit.edu	37	16	1814128	1814128	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr16:1814128G>C	ENST00000250894.4	+	18	2192	c.2035G>C	c.(2035-2037)Ggg>Cgg	p.G679R	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.G673R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	15	19	0	50	679					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.G679W(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GAGTCCCAACGGGGGCCAGGA	0.662000													1	1	1	1	0	1	0.999999	19	21	0	61	1	9.993259e-01	10	9	0	61	4
MKL2	57496	broad.mit.edu	37	16	14341273	14341273	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr16:14341273C>T	ENST00000571589.1	+	12	2328	c.2156C>T	c.(2155-2157)aCc>aTc	p.T719I	MKL2_ENST00000574045.1_Intron|MKL2_ENST00000318282.5_Intron|MKL2_ENST00000341243.5_Missense_Mutation_p.T708I	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	19	11	0	31	708	Gln-rich.				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			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTTACTGACCACGCAGACT	0.592000													1	0	1	1	1	1	1.000000	19	11	0	33	0	0	1	0	0	33	4
SPIRE2	84501	broad.mit.edu	37	16	89922030	89922030	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr16:89922030G>A	ENST00000378247.3	+	6	957	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R305Q	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	27	15	0	47	305					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ATCCCGCCCCGGGTGAAGAAG	0.672000													1	1	1	1	1	1	1.000000	28	15	0	51	1	9.999397e-01	8	7	0	51	5
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	C	G	rs121912660		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr17:7577099C>G	ENST00000420246.2	-	8	971	c.839G>C	c.(838-840)aGa>aCa	p.R280T	TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000445888.2_Missense_Mutation_p.R280T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	17	5	0	47	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (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 -> S (in sporadic cancers; somatic mutation).|R -> 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.542000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	18	5	0	48	1	1	42	0	0	48	5
HDAC5	10014	broad.mit.edu	37	17	42171102	42171102	+	Silent	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr17:42171102G>A	ENST00000225983.6	-	4	521	c.198C>T	c.(196-198)ggC>ggT	p.G66G	HDAC5_ENST00000586802.1_Silent_p.G65G|HDAC5_ENST00000336057.5_Silent_p.G65G|HDAC5_ENST00000393622.2_Silent_p.G65G			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	7	1	0	13	65					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			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GGTCCACAGAGCCCACCAGAG	0.667000													0	1	1	1	1	1	0.999015	8	1	0	13	1	9.999697e-01	15	1	0	13	4
ATP8B3	148229	broad.mit.edu	37	19	1802551	1802551	+	Missense_Mutation	SNP	T	T	A	rs142875994	by1000genomes	TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:1802551T>A	ENST00000539485.1	-	11	1231	c.998A>T	c.(997-999)aAc>aTc	p.N333I	ATP8B3_ENST00000525591.1_Missense_Mutation_p.N280I|ATP8B3_ENST00000526092.1_Missense_Mutation_p.N280I|ATP8B3_ENST00000310127.6_Missense_Mutation_p.N333I			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	11	21	0	56	333					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GAGGAGGAGGTTGCCAATGTC	0.572000													1	1	1	1	1	1	0.999648	12	23	0	61	0	0	0	0	0	61	5
LRRC8E	80131	broad.mit.edu	37	19	7964528	7964528	+	Missense_Mutation	SNP	A	A	C			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:7964528A>C	ENST00000306708.6	+	3	1222	c.1121A>C	c.(1120-1122)gAc>gCc	p.D374A	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	36	1	0	96	374						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GATCAGTACGACTCCCTCTAC	0.567000													1	1	1	1	1	1	1.000000	37	1	0	100	1	9.036585e-01	2	0	0	100	5
ZNF780B	163131	broad.mit.edu	37	19	40541792	40541792	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:40541792C>T	ENST00000434248.1	-	5	1039	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	ZNF780B_ENST00000221355.6_Missense_Mutation_p.R177Q	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	27	80	1	86	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGTATGAATTCGGCAATGTTC	0.388000													1	0	1	1	1	1	0.999995	30	86	1	90	1	2.848286e-01	2	2	1	90	4
GRIK5	2901	broad.mit.edu	37	19	42509903	42509903	+	Silent	SNP	G	G	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:42509903G>T	ENST00000262895.3	-	16	2234	c.2235C>A	c.(2233-2235)acC>acA	p.T745T	GRIK5_ENST00000301218.4_Silent_p.T745T|GRIK5_ENST00000593562.1_Silent_p.T745T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	17	29	0	53	745						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CGTAGCCCTTGGTGTCGAGGA	0.627000													1	1	1	1	1	1	0.999999	20	34	0	56	1	1	26	43	0	56	5
ZNF841	284371	broad.mit.edu	37	19	52569974	52569974	+	Silent	SNP	A	A	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:52569974A>T	ENST00000389534.4	-	7	1620	c.1161T>A	c.(1159-1161)tcT>tcA	p.S387S	ZNF841_ENST00000426391.2_Silent_p.S271S|ZNF841_ENST00000359973.2_Silent_p.S271S|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Silent_p.S387S	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	16	7	0	18	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GAGTTGCAAGAGAGGAACTTT	0.398000													1	0	1	1	1	1	0.999998	16	7	0	18	1	9.876010e-01	6	1	0	18	4
KIR3DL2	3812	broad.mit.edu	37	19	55363703	55363703	+	Silent	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr19:55363703G>A	ENST00000326321.3	+	3	354	c.321G>A	c.(319-321)tcG>tcA	p.S107S	KIR3DL1_ENST00000402254.2_Intron|KIR3DL2_ENST00000270442.5_Silent_p.S107S	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	81	3	0	84	107					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTGGGTGGTCGGCACCCAGCA	0.597000													1	0	1	1	1	1	1.000000	90	3	0	88	0	0	0	0	0	88	4
GATSL3	652968	broad.mit.edu	37	22	30682353	30682353	+	Silent	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr22:30682353C>T	ENST00000407689.3	-	6	771	c.642G>A	c.(640-642)gaG>gaA	p.E214E	GATSL3_ENST00000459785.1_Intron|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000404953.3_Intron	NM_001037666.2	NP_001032755.1			GATS protein-like 3	34	2	0	55											breast(1)|endometrium(1)|lung(1)	3						TAGAGGCTGCCTCCTTGGGGG	0.572000													1	1	1	1	1	1	1.000000	38	2	0	59	1	1	16	3	0	59	5
NLGN4X	57502	broad.mit.edu	37	X	5821878	5821878	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:5821878C>T	ENST00000381095.3	-	5	1468	c.841G>A	c.(841-843)Ggc>Agc	p.G281S	NLGN4X_ENST00000381092.1_Missense_Mutation_p.G281S|NLGN4X_ENST00000381093.2_Missense_Mutation_p.G301S|NLGN4X_ENST00000275857.6_Missense_Mutation_p.G281S|NLGN4X_ENST00000538097.1_Missense_Mutation_p.G281S	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	12	73	0	97	281					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			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGGGCGGTGCCGCTCTGAATG	0.532000													1	1	1	1	1	1	0.999839	14	75	0	108	0	7.552055e-02	1	2	0	108	5
FRMPD4	9758	broad.mit.edu	37	X	12735885	12735885	+	Silent	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:12735885G>A	ENST00000380682.1	+	16	3446	c.2940G>A	c.(2938-2940)ccG>ccA	p.P980P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	106	50	1	174	980					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCGACCTCCCGCCCAAAGTTG	0.572000													1	1	1	1	1	1	1.000000	109	54	1	178	0	0	0	0	1	178	5
WDR13	64743	broad.mit.edu	37	X	48458032	48458032	+	Silent	SNP	G	G	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:48458032G>A	ENST00000218056.5	+	4	955	c.450G>A	c.(448-450)ggG>ggA	p.G150G	WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	23	52	0	113	150						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CCATGGCCGGGGACACGTCAC	0.617000													1	1	1	1	1	1	1.000000	23	55	0	120	1	1	50	36	0	120	5
LPAR4	2846	broad.mit.edu	37	X	78010756	78010756	+	Silent	SNP	C	C	A			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:78010756C>A	ENST00000435339.2	+	2	795	c.390C>A	c.(388-390)acC>acA	p.T130T	LPAR4_ENST00000373301.2_Silent_p.T130T	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	60	50	0	108	130						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TCTTTCTCACCTGTATTAGTG	0.468000													1	0	1	1	1	1	1.000000	62	53	1	113	0	0	0	0	1	113	4
PNMA3	29944	broad.mit.edu	37	X	152226402	152226402	+	Silent	SNP	G	G	T			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chrX:152226402G>T	ENST00000447306.1	+	2	1326	c.990G>T	c.(988-990)ctG>ctT	p.L330L	PNMA3_ENST00000370265.4_Silent_p.L330L|PNMA3_ENST00000370264.4_Silent_p.L330L	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	14	55	0	69	330					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					tgaagctcctgcgtgaggagg	0.572000													1	1	1	1	1	1	0.999859	14	57	0	79	0	6.245435e-01	1	9	0	79	5
PLXNA2	5362	broad.mit.edu	37	1	208315676	208315677	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr1:208315676_208315677insTC	ENST00000367033.3	-	4	2260_2261	c.1503_1504insGA	c.(1501-1506)agaggtfs	p.G502fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	16	69	0	54	502	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GCACTTACCTGTCTCTCAGACA	0.490000													1	1	1	1	0	1	0.999958	16	87	0	54	0	2.537967e-01	0	6	0	54	4
HIP1	3092	broad.mit.edu	37	7	75187513	75187515	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr7:75187513_75187515delCTT	ENST00000336926.6	-	15	1446_1448	c.1420_1422delAAG	c.(1420-1422)del	p.K474del	HIP1_ENST00000434438.2_In_Frame_Del_p.K474del	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	33	39	0	74	474	pDED.				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			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCTCGCTGTACTTCTCCTTTAGC	0.552000			T	PDGFRB	CMML								1	1	1	1	0	1	1.000000	33	74	0	73	0	9.924937e-02	0	2	0	73	4
INPP5E	56623	broad.mit.edu	37	9	139327477	139327487	+	Frame_Shift_Del	DEL	TGGTCTTGATC	TGGTCTTGATC	-			TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr9:139327477_139327487delTGGTCTTGATC	ENST00000371712.3	-	5	1602_1612	c.1200_1210delGATCAAGACCA	c.(1198-1212)caagfs	p.QIKTK400fs		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	7	30	0	48	400						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	p.Q400H(1)		NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		AAGGCCCCCTTGGTCTTGATCTGAGACACGA	0.611000													1	1	1	1	0	1	0.995478	9	49	0	51	0	6.371486e-01	0	13	0	51	4
USP7	7874	broad.mit.edu	37	16	8999095	8999106	+	In_Frame_Del	DEL	GAACAGACAGGT	GAACAGACAGGT	-	rs146945749		TCGA-N9-A4Q4-01A-11D-A28R-08	TCGA-N9-A4Q4-10B-01D-A28U-08			GAACAGACAGGT	-	GAACAGACAGGT	GAACAGACAGGT		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c706ee71-26f2-43c9-aa9a-22bf9a393d89	3cb2acb2-e4c6-46de-a515-ee7d5d8a472c	g.chr16:8999095_8999106delGAACAGACAGGT	ENST00000344836.4	-	14	1709_1720	c.1511_1522delACCTGTCTGTTC	c.(1510-1524)gga>g	p.DLSVR504del	USP7_ENST00000535863.1_In_Frame_Del_p.DLSVR405del|USP7_ENST00000381886.4_In_Frame_Del_p.DLSVR488del	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	27	33	0	105	504					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			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GTGCAGTGTCGAACAGACAGGTCGTCATCGTG	0.434000											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	0	1	1.000000	30	64	0	112	0	9.941474e-01	0	21	0	112	4
SDF4	51150	broad.mit.edu	37	1	1152961	1152961	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:1152961G>C	ENST00000360001.6	-	7	1282	c.1020C>G	c.(1018-1020)ctC>ctG	p.L340L	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	9	60	0	60	340	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	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)		CGCTGTACTTGAGCACCTCCT	0.662000													1	1	1	1	1	1	0.995226	9	63	0	60	1	9.999935e-01	29	183	0	60	5
PTCHD2	57540	broad.mit.edu	37	1	11589956	11589956	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:11589956C>G	ENST00000294484.6	+	15	3180	c.3042C>G	c.(3040-3042)gtC>gtG	p.V1014V	PTCHD2_ENST00000389575.3_Silent_p.V1014V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	10	85	0	79	1014					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	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)		TCTTTGTGGTCTTCGGCATTA	0.647000													1	1	1	1	0	1	0.997335	10	97	0	86	0	0	0	0	0	86	4
VPS13D	55187	broad.mit.edu	37	1	12401942	12401942	+	Splice_Site	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:12401942G>C	ENST00000358136.3	+	41	8862	c.8732_splice	c.e41+1	p.R2911_splice	VPS13D_ENST00000356315.4_Splice_Site_p.R2886_splice	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	11	88	0	71	2910					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	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)		ACACCCACCAGGTAAGCAGTC	0.577000													1	0	1	1	1	1	0.998635	11	94	0	74	0	0	0	0	0	74	4
YARS	8565	broad.mit.edu	37	1	33245077	33245077	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:33245077G>C	ENST00000373477.4	-	12	2290	c.1382C>G	c.(1381-1383)tCt>tGt	p.S461C	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	8	66	0	68	461	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			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	ACCAGGAGCAGAGCCTGCCGG	0.527000													1	1	1	1	1	1	0.990634	8	71	0	72	1	9.999814e-01	36	209	0	72	5
TFAP2E	339488	broad.mit.edu	37	1	36060202	36060202	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:36060202G>C	ENST00000373235.3	+	7	1462	c.1254G>C	c.(1252-1254)aaG>aaC	p.K418N		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	16	128	0	105	418						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGCTGGACAAGATGTTTCTAA	0.542000													1	1	1	1	1	1	0.999987	18	143	0	118	0	3.902711e-02	1	2	0	118	5
MACF1	23499	broad.mit.edu	37	1	39919466	39919466	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:39919466G>A	ENST00000564288.1	+	88	21607	c.20830G>A	c.(20830-20832)Gat>Aat	p.D6944N	MACF1_ENST00000545844.1_Missense_Mutation_p.D4885N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5387N|MACF1_ENST00000372915.3_Missense_Mutation_p.D6843N|MACF1_ENST00000317713.7_Missense_Mutation_p.D4885N|MACF1_ENST00000361689.2_Missense_Mutation_p.D4885N|MACF1_ENST00000567887.1_Missense_Mutation_p.D6981N|MACF1_ENST00000539005.1_Missense_Mutation_p.D4755N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	93	194	0	206	6843					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			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	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)			CTGCCACCCCGATTGCATCAC	0.498000													1	1	1	1	1	1	1.000000	105	225	0	231	1	9.490783e-01	6	7	0	231	5
HIVEP3	59269	broad.mit.edu	37	1	42049679	42049679	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:42049679C>G	ENST00000372584.1	-	3	1804	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	HIVEP3_ENST00000372583.1_Missense_Mutation_p.E264Q|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E264Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E264Q	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	9	76	0	63	264	Acidic 1.|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			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGCTCCATCTCCAGCCCATGT	0.572000													1	1	1	1	1	1	0.994996	9	83	0	67	0	0	0	0	0	67	5
DHCR24	1718	broad.mit.edu	37	1	55349324	55349324	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:55349324C>G	ENST00000371269.3	-	2	452	c.354G>C	c.(352-354)ctG>ctC	p.L118L	DHCR24_ENST00000535035.1_Silent_p.L77L	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	26	211	0	206	118	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			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GAATGTCCATCAGGTTGATCA	0.537000													1	1	1	1	1	1	1.000000	30	229	0	234	1	6.083267e-01	6	11	0	234	5
IFI44	10561	broad.mit.edu	37	1	79116090	79116090	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:79116090G>C	ENST00000370747.4	+	2	295	c.210G>C	c.(208-210)caG>caC	p.Q70H	IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	11	102	0	87	70					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AGAGTTACCAGGAAGGAAAGT	0.368000													1	1	1	1	0	1	0.999285	12	105	0	88	0	6.105869e-01	1	17	0	88	4
GNG5	2787	broad.mit.edu	37	1	84967543	84967543	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:84967543G>C	ENST00000370641.3	-	2	665	c.192C>G	c.(190-192)gtC>gtG	p.V64V	GNG5_ENST00000370645.4_Silent_p.V64V|GNG5_ENST00000487806.1_5'UTR			P63218	GBG5_HUMAN	guanine nucleotide binding protein (G protein), gamma 5	6	49	0	34	64					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		AAAAGGAACAGACTTTCTGGG	0.388000													0	1	1	0	0	1	0.967588	6	55	0	40	1	9.999990e-01	80	424	0	40	2
GNAI3	2773	broad.mit.edu	37	1	110121874	110121874	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:110121874G>A	ENST00000369851.4	+	4	462	c.352G>A	c.(352-354)Gtc>Atc	p.V118I		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	8	87	0	93	118					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			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		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)		TGAAGAAGGAGTCATGACTCC	0.443000													1	1	1	1	0	1	0.990337	8	93	0	105	1	3.457762e-01	2	12	0	105	4
KCNA3	3738	broad.mit.edu	37	1	111216487	111216487	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:111216487G>A	ENST00000369769.2	-	1	1168	c.945C>T	c.(943-945)ttC>ttT	p.F315F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	24	95	0	92	315						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		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)		TAGGACAAGCGAAGAACCGCA	0.557000													1	1	1	1	1	1	1.000000	26	100	0	103	0	0	0	0	0	103	5
SPAG17	200162	broad.mit.edu	37	1	118629493	118629493	+	Splice_Site	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:118629493C>A	ENST00000336338.5	-	11	1563		c.e11+1			NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	33	105	0	86							cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	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)		GGCTATCTGACCTTTTTCTCC	0.458000													1	1	1	1	1	1	1.000000	34	109	0	95	0	0	0	0	0	95	5
JTB	10899	broad.mit.edu	37	1	153948312	153948312	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:153948312C>T	ENST00000271843.4	-	4	709	c.274G>A	c.(274-276)Gag>Aag	p.E92K	JTB_ENST00000368589.1_Missense_Mutation_p.E63K|JTB_ENST00000356648.1_Missense_Mutation_p.E63K	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	6	135	0	99	92					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	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)			CTTTTGAACTCATTTCTCTTA	0.463000													1	0	1	1	0	1	0.981390	7	146	0	109	1	9.999997e-01	124	991	0	109	3
KIAA0907	22889	broad.mit.edu	37	1	155887352	155887352	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:155887352G>C	ENST00000368320.3	-	11	1403	c.1378C>G	c.(1378-1380)Cag>Gag	p.Q460E	KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q460E			Q7Z7F0	K0907_HUMAN	KIAA0907	18	158	0	95	460										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CGTCTCTTCTGTGCCTGGGGC	0.537000													1	1	1	1	0	1	0.999999	22	168	0	102	0	4.269289e-01	1	11	0	102	4
CCT3	7203	broad.mit.edu	37	1	156281931	156281931	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:156281931G>C	ENST00000295688.3	-	11	1336	c.1056C>G	c.(1054-1056)atC>atG	p.I352M	CCT3_ENST00000368261.3_Missense_Mutation_p.I307M|CCT3_ENST00000368259.2_Missense_Mutation_p.I314M|CCT3_ENST00000472765.2_Missense_Mutation_p.I307M	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	6	65	0	55	352					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAATTTTCTTGATTTCCAACA	0.517000													1	1	1	1	1	1	0.982234	7	73	0	62	1	1	160	1031	0	62	5
OR10X1	128367	broad.mit.edu	37	1	158549080	158549080	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158549080A>G	ENST00000368150.1	-	1	609	c.610T>C	c.(610-612)Tct>Cct	p.S204P		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	5	70	0	46	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TCTATACAAGACAGCCTAATA	0.433000													1	1	1	1	0	1	0.939603	5	75	0	49	0	0	0	0	0	49	4
PYHIN1	149628	broad.mit.edu	37	1	158909028	158909028	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:158909028C>T	ENST00000368140.1	+	4	815	c.570C>T	c.(568-570)tcC>tcT	p.S190S	PYHIN1_ENST00000368135.4_Silent_p.S190S|PYHIN1_ENST00000392252.3_Silent_p.S181S|PYHIN1_ENST00000368138.3_Silent_p.S181S|PYHIN1_ENST00000392254.2_Silent_p.S190S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	7	127	0	105	190					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CCAACACTTCCTCAACTGAGG	0.502000													1	0	1	1	0	1	0.981372	7	149	0	117	0	2.866014e-03	0	2	0	117	3
ASTN1	460	broad.mit.edu	37	1	176845718	176845718	+	Missense_Mutation	SNP	T	T	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:176845718T>G	ENST00000367654.2	-	21	3455	c.3442A>C	c.(3442-3444)Atc>Ctc	p.I1148L	ASTN1_ENST00000367657.3_Missense_Mutation_p.I1140L|ASTN1_ENST00000361833.2_Missense_Mutation_p.I1140L|ASTN1_ENST00000424564.2_Missense_Mutation_p.I1140L			O14525	ASTN1_HUMAN	astrotactin 1	7	62	0	58	1148					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCTTCACGATCACGTCGCTT	0.582000													1	1	1	1	0	1	0.982279	7	71	0	68	0	0	0	0	0	68	4
ANGPTL1	9068	broad.mit.edu	37	1	178834847	178834847	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:178834847C>G	ENST00000234816.2	-	3	512	c.65G>C	c.(64-66)aGa>aCa	p.R22T	ANGPTL1_ENST00000367629.1_Missense_Mutation_p.R22T|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000324778.4_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	5	77	0	41	22						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TTGTCCACCTCTGCAATGTCC	0.383000													0	1	1	0	0	1	0.939245	5	91	0	46	0	4.329004e-03	0	2	0	46	2
SOAT1	6646	broad.mit.edu	37	1	179320591	179320591	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:179320591G>A	ENST00000367619.3	+	15	1733	c.1590G>A	c.(1588-1590)ctG>ctA	p.L530L	SOAT1_ENST00000540564.1_Silent_p.L472L|SOAT1_ENST00000539888.1_Silent_p.L465L|SOAT1_ENST00000535686.1_Silent_p.L266L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	13	126	0	98	530					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)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ACTGTCCTCTGAAAAATGTGA	0.438000													1	1	1	1	1	1	0.999950	16	136	0	99	0	8.207864e-01	1	28	0	99	5
HMCN1	83872	broad.mit.edu	37	1	186008973	186008973	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:186008973G>C	ENST00000271588.4	+	39	6371	c.6142G>C	c.(6142-6144)Gat>Cat	p.D2048H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D2048H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	16	76	0	44	2048	Ig-like C2-type 18.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGTTGAAAGATGGGAGTCC	0.433000													1	1	1	1	1	1	0.999960	16	79	0	47	0	0	0	0	0	47	5
TROVE2	6738	broad.mit.edu	37	1	193045690	193045690	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:193045690G>C	ENST00000432079.1	+	3	604	c.36G>C	c.(34-36)aaG>aaC	p.K12N	TROVE2_ENST00000416058.2_Missense_Mutation_p.K12N|TROVE2_ENST00000367444.3_Missense_Mutation_p.K287N|TROVE2_ENST00000367443.1_Missense_Mutation_p.K287N|TROVE2_ENST00000367441.1_Missense_Mutation_p.K287N|TROVE2_ENST00000367446.3_Missense_Mutation_p.K287N|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367445.3_Missense_Mutation_p.K287N|TROVE2_ENST00000400968.2_Missense_Mutation_p.K287N			P10155	RO60_HUMAN	TROVE domain family, member 2	8	67	0	63	287					transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						ATCTAGGAAAGATGACTGCTA	0.338000													1	1	1	1	1	1	0.995109	9	72	0	64	0	4.287739e-02	0	3	0	64	5
CHI3L1	1116	broad.mit.edu	37	1	203148584	203148584	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:203148584C>T	ENST00000255409.3	-	10	1266	c.1141G>A	c.(1141-1143)Gct>Act	p.A381T		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	10	123	0	96	381					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TACGTTGCAGCGAGTGCATCC	0.647000													1	1	1	1	0	1	0.998534	11	140	0	104	1	9.965553e-01	3	126	0	104	4
YOD1	55432	broad.mit.edu	37	1	207222908	207222908	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:207222908G>A	ENST00000367084.1	-	4	576	c.372C>T	c.(370-372)gtC>gtT	p.V124V	PFKFB2_ENST00000411990.2_5'UTR|YOD1_ENST00000391927.1_Silent_p.V124V|YOD1_ENST00000315927.4_Silent_p.V168V	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	20	26	0	36	168	UBX-like.				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			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTCCTTCGACGACATAGTACA	0.488000													1	1	1	1	1	1	1.000000	20	26	0	37	0	0	1	0	0	37	5
SDE2	163859	broad.mit.edu	37	1	226173095	226173095	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:226173095G>A	ENST00000272091.7	-	7	1282	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	SDE2_ENST00000366817.1_Missense_Mutation_p.R327W	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)	7	84	0	73									p.R422W(1)|p.R410W(1)									CTTGCTGCCCGCTCCTGCAGA	0.502000													1	1	1	1	0	1	0.981909	7	91	0	84	0	2.508580e-01	0	11	0	84	4
C1orf35	79169	broad.mit.edu	37	1	228288913	228288913	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:228288913G>C	ENST00000272139.4	-	8	945	c.711C>G	c.(709-711)tgC>tgG	p.C237W	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	6	59	0	66	237										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				TCCTCTTACAGCAGGGGGAGT	0.642000													1	0	1	1	1	1	0.967229	6	64	0	68	1	9.999020e-01	49	214	0	68	4
PGBD5	79605	broad.mit.edu	37	1	230459297	230459297	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:230459297G>C	ENST00000321327.2	-	9	1538	c.1539C>G	c.(1537-1539)atC>atG	p.I513M	PGBD5_ENST00000525115.1_Missense_Mutation_p.I414M|PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Missense_Mutation_p.I368M			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	15	111	0	104	414						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGGCATTGTTGATGGCGATGC	0.517000													1	1	1	1	1	1	0.999976	17	118	0	110	0	1.808950e-02	0	2	0	110	5
OR2T34	127068	broad.mit.edu	37	1	248737522	248737522	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:248737522G>A	ENST00000328782.2	-	1	558	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	20	43	0	86	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			AAAAACTCAGGATTTTCCTAG	0.522000													1	1	1	1	0	1	0.999999	20	44	0	63	0	0	0	0	0	63	4
ZNF692	55657	broad.mit.edu	37	1	249149641	249149641	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:249149641C>G	ENST00000451251.1	-	9	1336	c.991G>C	c.(991-993)Gag>Cag	p.E331Q	ZNF692_ENST00000366471.3_Missense_Mutation_p.E281Q|ZNF692_ENST00000427146.1_Missense_Mutation_p.E281Q|ZNF692_ENST00000366469.5_Missense_Mutation_p.E325Q|ZNF692_ENST00000306601.4_Missense_Mutation_p.E326Q	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	3	44	0	61	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	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)			GGCATCAGCTCTCTTTTGGCA	0.582000													0	0	0	0	1	1	0.812588	3	49	0	71	1	8.886833e-01	8	61	0	71	1
WDR35	57539	broad.mit.edu	37	2	20114033	20114033	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:20114033G>A	ENST00000345530.3	-	27	3275	c.3160C>T	c.(3160-3162)Cac>Tac	p.H1054Y	WDR35_ENST00000416055.2_Intron|WDR35_ENST00000281405.4_Missense_Mutation_p.H1043Y	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	8	61	0	38	1054										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTCAGGTGAAGAGCTAAG	0.398000													1	1	1	1	1	1	0.995184	9	66	0	41	0	3.289071e-01	0	6	0	41	5
OTOF	9381	broad.mit.edu	37	2	26725246	26725246	+	Missense_Mutation	SNP	C	C	T	rs111033535		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:26725246C>T	ENST00000272371.2	-	7	758	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	OTOF_ENST00000403946.3_Missense_Mutation_p.R211Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	4	21	0	24	211					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			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTCCTAGCCGAATGGCCAG	0.557000													1	0	1	1	1	1	0.895677	4	22	0	25	0	0	0	0	0	25	4
GTF3C2	2976	broad.mit.edu	37	2	27566241	27566241	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:27566241C>G	ENST00000359541.2	-	2	610	c.181G>C	c.(181-183)Gag>Cag	p.E61Q	GTF3C2_ENST00000264720.3_Missense_Mutation_p.E61Q			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	22	189	0	199	61						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGAATCCTCAAATCCAGGC	0.488000													1	1	1	1	1	1	1.000000	23	195	0	208	0	2.158892e-01	1	7	0	208	5
ZNF513	130557	broad.mit.edu	37	2	27600930	27600930	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:27600930G>C	ENST00000323703.6	-	4	1306	c.1108C>G	c.(1108-1110)Cac>Gac	p.H370D	ZNF513_ENST00000491924.1_Intron|ZNF513_ENST00000407879.1_Missense_Mutation_p.H308D	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	18	150	0	160	370					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			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGGATAGTGAGTGGCAAAG	0.632000													1	0	1	1	1	1	0.997396	18	161	1	178	1	7.347004e-01	6	18	1	178	4
C2orf16	84226	broad.mit.edu	37	2	27803866	27803866	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:27803866G>C	ENST00000408964.2	+	1	4478	c.4427G>C	c.(4426-4428)aGa>aCa	p.R1476T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	18	139	0	116	1476										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGCCTCTGAGAACTGTTCAA	0.473000													1	1	1	1	1	1	0.999993	19	151	0	125	0	0	1	0	0	125	5
HEATR5B	54497	broad.mit.edu	37	2	37291994	37291994	+	Silent	SNP	G	G	C	rs142538657		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:37291994G>C	ENST00000233099.5	-	10	1568	c.1473C>G	c.(1471-1473)ctC>ctG	p.L491L	HEATR5B_ENST00000354531.2_Silent_p.L491L	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	22	44	0	46	491							binding	p.L491L(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TCAAGTTGTTGAGCCGTTCTG	0.507000													1	1	1	1	1	1	1.000000	22	45	0	49	0	0	1	0	0	49	5
PRKCE	5581	broad.mit.edu	37	2	46203651	46203651	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:46203651C>G	ENST00000306156.3	+	3	823	c.496C>G	c.(496-498)Cag>Gag	p.Q166E		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	29	90	0	92	166					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAGGGTCCATCAGGTCAACGG	0.587000													1	0	1	1	1	1	1.000000	30	93	0	97	0	0	0	0	0	97	4
LHCGR	3973	broad.mit.edu	37	2	48915596	48915596	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:48915596A>G	ENST00000294954.7	-	11	1361	c.1340T>C	c.(1339-1341)gTa>gCa	p.V447A	LHCGR_ENST00000401907.1_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.V385A|LHCGR_ENST00000405626.1_Missense_Mutation_p.V420A|LHCGR_ENST00000403273.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	11	75	0	55	447					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		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)	ACTTGCGAATACAGTGAAAAA	0.488000													1	1	1	1	1	1	0.999334	12	79	0	60	0	0	0	0	0	60	5
EHBP1	23301	broad.mit.edu	37	2	63053311	63053311	+	Silent	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:63053311C>A	ENST00000263991.5	+	6	884	c.402C>A	c.(400-402)gtC>gtA	p.V134V	EHBP1_ENST00000405015.3_Silent_p.V134V|EHBP1_ENST00000431489.1_Silent_p.V134V|EHBP1_ENST00000405289.1_Silent_p.V134V|AC007098.1_ENST00000452397.1_RNA|EHBP1_ENST00000354487.3_Silent_p.V134V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	7	41	0	42	134						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGACTGATGTCAAGTTAAAAT	0.398000													1	0	1	1	1	1	0.983297	7	43	0	47	0	0	0	1	0	47	4
GPAT2	150763	broad.mit.edu	37	2	96690526	96690526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:96690526G>A	ENST00000434632.1	-	15	1882	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*	GPAT2_ENST00000359548.4_Nonsense_Mutation_p.Q475*|GPAT2_ENST00000453542.1_Nonsense_Mutation_p.Q404*|GPAT2_ENST00000377137.3_Nonsense_Mutation_p.Q475*			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	22	265	0	237	475					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CCTACCTTCTGATGCTTGAAG	0.652000													1	1	1	1	0	1	1.000000	24	293	0	259	0	6.367555e-03	0	2	0	259	4
IL1R1	3554	broad.mit.edu	37	2	102792941	102792941	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:102792941C>G	ENST00000410023.1	+	12	1750	c.1432C>G	c.(1432-1434)Ctt>Gtt	p.L478V	IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409929.1_Missense_Mutation_p.L447V|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Missense_Mutation_p.L478V|AC007271.3_ENST00000428188.1_RNA			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	5	45	0	39	478	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GTATAATGCTCTTGTTCAGGA	0.388000													1	1	1	1	0	1	0.940536	5	50	0	39	0	1.227352e-02	0	2	0	39	4
DPP10	57628	broad.mit.edu	37	2	116548751	116548751	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:116548751C>G	ENST00000410059.1	+	18	2106	c.1626C>G	c.(1624-1626)gaC>gaG	p.D542E	DPP10_ENST00000409163.1_Missense_Mutation_p.D492E|DPP10_ENST00000310323.8_Missense_Mutation_p.D535E|DPP10_ENST00000393147.2_Missense_Mutation_p.D546E	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	4	30	0	27	542					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATATTGACGACTATGGTAAAA	0.323000													0	1	1	0	1	1	0.893960	4	34	0	27	0	1.829268e-02	0	2	0	27	3
LRP1B	53353	broad.mit.edu	37	2	140990855	140990855	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:140990855A>G	ENST00000389484.3	-	91	14671	c.13700T>C	c.(13699-13701)aTg>aCg	p.M4567T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4	26	0	23	4567					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		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)		TTGCCCATCCATATATAATTT	0.323000										TSP Lung(27;0.18)			0	0	1	0	1	1	0.894938	4	26	0	25	0	2.840909e-02	1	1	0	25	2
LRP2	4036	broad.mit.edu	37	2	170058204	170058204	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:170058204G>A	ENST00000263816.3	-	44	8671	c.8386C>T	c.(8386-8388)Cgt>Tgt	p.R2796C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	5	64	0	53	2796	LDL-receptor class A 18.				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			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				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)	ATAAACTCACGAGGTATGCAC	0.433000													1	1	1	1	0	1	0.939778	5	69	0	56	0	0	0	0	0	56	4
LRP2	4036	broad.mit.edu	37	2	170062596	170062596	+	Missense_Mutation	SNP	G	G	A	rs142613860		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:170062596G>A	ENST00000263816.3	-	40	7778	c.7493C>T	c.(7492-7494)tCt>tTt	p.S2498F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	19	99	0	103	2498					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			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				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)	AGTGCGGTTAGACCCATCTTC	0.438000													1	1	1	1	1	1	0.999999	21	109	0	110	0	0	0	0	0	110	5
NFE2L2	4780	broad.mit.edu	37	2	178095660	178095660	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:178095660G>C	ENST00000397062.3	-	5	2225	c.1671C>G	c.(1669-1671)ctC>ctG	p.L557L	NFE2L2_ENST00000397063.4_Silent_p.L541L|NFE2L2_ENST00000464747.1_Silent_p.L541L|NFE2L2_ENST00000446151.2_Silent_p.L534L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	8	93	0	59	557					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)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			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)			ATAAGGTGCTGAGTTGTTTTT	0.363000			Mis		NSCLC, HNSCC					HNSCC(56;0.16)			1	1	1	1	1	1	0.994840	9	104	0	61	1	9.999368e-01	34	210	0	61	5
NFE2L2	4780	broad.mit.edu	37	2	178095740	178095740	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:178095740G>A	ENST00000397062.3	-	5	2145	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	NFE2L2_ENST00000397063.4_Missense_Mutation_p.H515Y|NFE2L2_ENST00000464747.1_Missense_Mutation_p.H515Y|NFE2L2_ENST00000446151.2_Missense_Mutation_p.H508Y	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	9	60	0	44	531	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)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			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)			TCTTTCAAATGATCTAAATCT	0.343000			Mis		NSCLC, HNSCC					HNSCC(56;0.16)			1	1	1	1	1	1	0.997579	10	61	0	44	1	9.999869e-01	29	130	0	44	5
TTN	7273	broad.mit.edu	37	2	179411742	179411742	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:179411742G>C	ENST00000589042.1	-	340	94734	c.94510C>G	c.(94510-94512)Caa>Gaa	p.Q31504E	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q28936E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q29863E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q22564E|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q22631E|TTN_ENST00000460472.2_Missense_Mutation_p.Q22439E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19	113	0	96	29863	Ig-like 140.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGGATTTTGAGCCATTATA	0.363000													1	1	1	1	1	1	0.999994	19	124	0	107	0	0	0	0	0	107	5
TTN	7273	broad.mit.edu	37	2	179632801	179632801	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:179632801G>A	ENST00000589042.1	-	39	9469	c.9245C>T	c.(9244-9246)tCt>tTt	p.S3082F	TTN_ENST00000342992.6_Missense_Mutation_p.S3082F|TTN_ENST00000591111.1_Missense_Mutation_p.S3082F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S3082F|TTN_ENST00000359218.5_Missense_Mutation_p.S3036F|TTN_ENST00000342175.6_Missense_Mutation_p.S3036F|TTN_ENST00000460472.2_Missense_Mutation_p.S3036F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7	51	0	45	2819	Ig-like 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCAGGTTCAGAAACTTCACA	0.408000													1	1	1	1	1	1	0.982712	7	56	0	47	0	0	0	0	0	47	5
STAT1	6772	broad.mit.edu	37	2	191844515	191844515	+	Silent	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:191844515G>T	ENST00000361099.3	-	20	2097	c.1710C>A	c.(1708-1710)ctC>ctA	p.L570L	STAT1_ENST00000409465.1_Silent_p.L570L|STAT1_ENST00000392322.3_Silent_p.L570L|STAT1_ENST00000392323.2_Silent_p.L572L|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	4	28	0	36	570					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			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TCCAGAGAGGGAGCAGGTGTT	0.388000													0	0	1	1	1	1	0.894057	4	33	0	44	1	9.999912e-01	54	429	0	44	3
TRAK2	66008	broad.mit.edu	37	2	202245467	202245467	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:202245467C>G	ENST00000332624.3	-	16	2972	c.2544G>C	c.(2542-2544)aaG>aaC	p.K848N		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	12	96	0	89	848				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CACCAGGGTTCTTGACCACTC	0.478000													1	1	1	1	1	1	0.999820	14	100	0	96	0	5.057059e-01	1	12	0	96	5
ZDBF2	57683	broad.mit.edu	37	2	207173234	207173234	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:207173234G>C	ENST00000374423.3	+	5	4368	c.3982G>C	c.(3982-3984)Gaa>Caa	p.E1328Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	5	42	0	28	1328							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAGTGATTCTGAAATAATTTA	0.383000													1	0	1	1	1	1	0.940987	5	44	0	29	0	0	0	0	0	29	4
ABCA12	26154	broad.mit.edu	37	2	215852431	215852431	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:215852431C>G	ENST00000272895.7	-	27	4135	c.3916G>C	c.(3916-3918)Gag>Cag	p.E1306Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.E988Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	9	27	0	24	1306					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		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)		TTGCTCTTCTCAGGCTTCACC	0.458000													1	1	1	1	1	1	0.998130	10	29	0	26	0	0	0	0	0	26	5
IRS1	3667	broad.mit.edu	37	2	227662588	227662588	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:227662588G>C	ENST00000305123.4	-	1	1887	c.867C>G	c.(865-867)ctC>ctG	p.L289L		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	7	108	0	81	289	Ser-rich.				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			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		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)		GGGGATTGTTGAGATGGTGCC	0.672000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	0	1	0.990199	8	108	0	84	0	1.805298e-02	0	3	0	84	4
SPHKAP	80309	broad.mit.edu	37	2	228855726	228855726	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:228855726C>G	ENST00000392056.3	-	11	4995	c.4949G>C	c.(4948-4950)aGa>aCa	p.R1650T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1621T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	7	76	0	61	1650						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		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)		CTTTTCAATTCTGTTTTCCTG	0.453000													1	1	1	1	0	1	0.990455	8	83	0	70	0	0	0	0	0	70	4
CHRND	1144	broad.mit.edu	37	2	233393337	233393337	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:233393337C>T	ENST00000457943.2	+	5	508	c.209C>T	c.(208-210)tCg>tTg	p.S70L	CHRND_ENST00000543200.1_Silent_p.F145F|CHRND_ENST00000258385.3_Silent_p.F160F|CHRND_ENST00000536614.1_Silent_p.F160F			Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	24	115	0	109	0					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	p.F160F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		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)		ATTTCCCCTTCGACTGGCAGA	0.577000													1	1	1	1	1	1	1.000000	26	118	0	114	0	0	0	0	0	114	5
SEPT2	4735	broad.mit.edu	37	2	242274603	242274603	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr2:242274603G>A	ENST00000391973.2	+	4	721	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	SEPT2_ENST00000391971.2_Missense_Mutation_p.E65K|SEPT2_ENST00000360051.3_Missense_Mutation_p.E65K|SEPT2_ENST00000402092.2_Missense_Mutation_p.E65K|SEPT2_ENST00000401990.1_Missense_Mutation_p.E65K|SEPT2_ENST00000407971.1_Missense_Mutation_p.E25K	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	3	17	0	18	65					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		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)		TCTGTACCCAGAAAGAGTCAT	0.348000													0	0	1	0	0	1	0.813059	3	18	0	20	1	9.535843e-01	2	39	0	20	1
CRBN	51185	broad.mit.edu	37	3	3214548	3214548	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:3214548C>T	ENST00000231948.4	-	4	461	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	CRBN_ENST00000432408.2_Missense_Mutation_p.E146K	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	8	53	0	55	147	Lon.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		AAATCCTGTTCTTCTCGATAG	0.363000													1	0	1	1	1	1	0.995321	9	57	0	60	1	8.320156e-01	4	19	0	60	4
TMEM43	79188	broad.mit.edu	37	3	14177406	14177406	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:14177406G>C	ENST00000306077.4	+	10	1134	c.880G>C	c.(880-882)Gag>Cag	p.E294Q		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	5	68	0	74	294						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CTTCTCAGCAGAGGTGAGTGC	0.552000													1	1	1	1	0	1	0.967009	6	71	0	78	1	6.039467e-01	6	18	0	78	4
UBP1	7342	broad.mit.edu	37	3	33450944	33450944	+	Missense_Mutation	SNP	A	A	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:33450944A>C	ENST00000283629.3	-	6	1234	c.705T>G	c.(703-705)ttT>ttG	p.F235L	UBP1_ENST00000447368.2_Missense_Mutation_p.F235L|UBP1_ENST00000283628.5_Missense_Mutation_p.F235L	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	12	54	0	74	235					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			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						GTCTTACCTTAAAAACTTTGA	0.408000													1	1	1	1	1	1	0.999855	14	60	0	76	0	1.806721e-01	1	3	0	76	5
TGM4	7047	broad.mit.edu	37	3	44952512	44952512	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:44952512G>C	ENST00000296125.4	+	12	1737	c.1669G>C	c.(1669-1671)Gat>Cat	p.D557H		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	6	31	0	46	557					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TATATTAGATGATGAGCCAGT	0.463000													1	0	1	1	1	1	0.969424	6	31	0	47	0	0	0	0	0	47	4
MST1	4485	broad.mit.edu	37	3	49723897	49723897	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:49723897G>A	ENST00000449682.2	-	8	1226	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	MST1_ENST00000383728.3_Missense_Mutation_p.R214C|MST1_ENST00000545762.1_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	4	27	0	36	275	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCTCTTGGCGGGGCTGTGCC	0.657000													1	1	1	1	0	1	0.894270	4	31	0	36	0	0	0	1	0	36	4
PBRM1	55193	broad.mit.edu	37	3	52696199	52696199	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:52696199C>T	ENST00000356770.4	-	4	480	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	PBRM1_ENST00000394830.3_Missense_Mutation_p.E160K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E160K|PBRM1_ENST00000296302.7_Missense_Mutation_p.E160K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E160K|PBRM1_ENST00000409767.1_Missense_Mutation_p.E160K|PBRM1_ENST00000409114.3_Missense_Mutation_p.E160K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E160K			Q86U86	PB1_HUMAN	polybromo 1	28	172	0	193	160			E -> A (found in a malignant melanoma cell line).		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.E160*(3)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				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)		TCATCATCTTCGTCATCTGCT	0.453000			Mis, N, F, S, D, O		clear cell renal carcinoma, breast								1	1	1	1	1	1	1.000000	29	181	0	201	0	0	0	0	0	201	5
ZBTB11	27107	broad.mit.edu	37	3	101370146	101370146	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:101370146G>C	ENST00000312938.4	-	11	3606	c.3026C>G	c.(3025-3027)tCt>tGt	p.S1009C		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	7	85	0	71	1009					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGAAAGTGTAGATACCGATGG	0.418000													1	1	1	1	0	1	0.981894	7	92	0	74	0	3.672061e-02	0	4	0	74	4
ZNF80	7634	broad.mit.edu	37	3	113955901	113955901	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:113955901C>T	ENST00000482457.2	-	1	524	c.21G>A	c.(19-21)ggG>ggA	p.G7G		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	9	94	0	76	7						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CTGTCCCCAACCCATCGCGTT	0.527000													1	1	1	1	0	1	0.994840	9	103	0	84	0	0	0	0	0	84	4
STXBP5L	9515	broad.mit.edu	37	3	121126326	121126326	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:121126326C>G	ENST00000273666.6	+	24	3167	c.2896C>G	c.(2896-2898)Cag>Gag	p.Q966E	STXBP5L_ENST00000472879.1_Missense_Mutation_p.Q942E|STXBP5L_ENST00000497029.1_Missense_Mutation_p.Q940E|STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q942E|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Q966E	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	12	71	0	83	966					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACTGCCTTCTCAGACTTGCCT	0.418000													1	1	1	1	1	1	0.999676	13	74	0	93	0	0	0	0	0	93	5
GOLGB1	2804	broad.mit.edu	37	3	121414560	121414560	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:121414560C>T	ENST00000393667.3	-	13	4920	c.4810G>A	c.(4810-4812)Gca>Aca	p.A1604T	GOLGB1_ENST00000340645.5_Missense_Mutation_p.A1599T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	18	57	0	54	1599					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTACTTTCTGCAATCTTAGAA	0.378000													1	1	1	1	1	1	0.999993	18	60	0	57	0	0	0	1	0	57	5
BFSP2	8419	broad.mit.edu	37	3	133185774	133185774	+	Missense_Mutation	SNP	C	C	A	rs140878916		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:133185774C>A	ENST00000302334.2	+	5	1083	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	6	68	0	67	332	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CCAGAGCCTCCAGGCTGAGAC	0.537000													1	1	1	1	0	1	0.982073	7	81	0	74	0	0	0	1	0	74	4
CP	1356	broad.mit.edu	37	3	148899820	148899820	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:148899820C>G	ENST00000264613.6	-	14	2788	c.2526G>C	c.(2524-2526)gaG>gaC	p.E842D		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	11	88	0	82	842	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		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)	CTGTAGAACTCTCTGTTTGTA	0.468000													1	1	1	1	1	1	0.998638	11	92	0	83	1	4.345974e-01	3	10	0	83	5
ZMAT3	64393	broad.mit.edu	37	3	178785380	178785380	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:178785380G>A	ENST00000311417.2	-	2	902	c.161C>T	c.(160-162)tCg>tTg	p.S54L	ZMAT3_ENST00000432729.1_Missense_Mutation_p.S54L	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	15	76	0	72	54					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	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)			CCCTCCCTTCGATAACTCTTC	0.552000													1	1	1	1	1	1	0.999920	15	76	0	73	0	8.155185e-02	0	3	0	73	5
LRRC15	131578	broad.mit.edu	37	3	194080440	194080440	+	Silent	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr3:194080440A>G	ENST00000347624.3	-	2	1418	c.1333T>C	c.(1333-1335)Tta>Cta	p.L445L	LRRC15_ENST00000428839.1_Silent_p.L451L|LRRC15_ENST00000439944.2_Silent_p.L451L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	4	38	0	32	445	LRRCT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	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;4.94e-05)		TCCGTCCCTAACCTAGGCTGG	0.552000													0	1	1	0	0	1	0.893475	4	40	0	35	0	0	0	0	0	35	2
SPON2	10417	broad.mit.edu	37	4	1165191	1165191	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:1165191C>G	ENST00000290902.5	-	3	636	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	SPON2_ENST00000431380.1_Missense_Mutation_p.E102Q	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	7	38	0	64	102	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		GCCCAGGCCTCGCCGCGCTCC	0.701000													1	1	1	1	0	1	0.983087	7	47	0	70	1	9.999771e-01	37	163	0	70	4
MAEA	10296	broad.mit.edu	37	4	1332269	1332269	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:1332269C>T	ENST00000303400.4	+	8	1022	c.959C>T	c.(958-960)tCc>tTc	p.S320F	MAEA_ENST00000514708.1_Missense_Mutation_p.S252F|MAEA_ENST00000510794.1_Missense_Mutation_p.S319F|MAEA_ENST00000505839.1_Missense_Mutation_p.S272F|MAEA_ENST00000505177.2_Missense_Mutation_p.S358F|MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000452175.2_Missense_Mutation_p.S241F|MAEA_ENST00000264750.6_Missense_Mutation_p.S279F	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	9	43	0	65	320					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			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			TGCAGCCGCTCCCTGAACAAG	0.632000													1	1	1	1	1	1	0.998915	11	44	0	72	1	9.999863e-01	18	86	0	72	5
RFC1	5981	broad.mit.edu	37	4	39304134	39304134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:39304134G>A	ENST00000381897.1	-	18	2558	c.2425C>T	c.(2425-2427)Caa>Taa	p.Q809*	RFC1_ENST00000349703.2_Nonsense_Mutation_p.Q808*	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	4	33	0	24	809					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			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGATATCTTGATTGGCTCCC	0.353000													1	0	1	1	1	1	0.941700	5	36	0	25	0	2.061146e-01	0	6	0	25	4
GABRA4	2557	broad.mit.edu	37	4	46930400	46930400	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:46930400G>C	ENST00000264318.3	-	9	2489	c.1507C>G	c.(1507-1509)Cct>Gct	p.P503A		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	8	114	0	120	503					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATGGAGGAGGAGTAGCTGAC	0.463000													1	1	1	1	0	1	0.997224	10	128	0	134	0	0	0	0	0	134	4
CCNI	10983	broad.mit.edu	37	4	77969711	77969711	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:77969711G>A	ENST00000237654.4	-	7	1371	c.795C>T	c.(793-795)ctC>ctT	p.L265L	CCNI_ENST00000537948.1_Silent_p.L251L	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	11	82	0	78	265					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						GGGTGTGCTTGAGGGGACGGT	0.527000													1	1	1	1	1	1	0.999323	12	85	0	81	1	9.999999e-01	55	246	0	81	5
WDFY3	23001	broad.mit.edu	37	4	85642692	85642692	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:85642692G>C	ENST00000322366.6	-	46	7831	c.7424C>G	c.(7423-7425)tCt>tGt	p.S2475C	WDFY3_ENST00000295888.4_Missense_Mutation_p.S2492C			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	10	58	0	57	2492						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATCAGGTGCAGATCGGGAGCG	0.498000													1	1	1	1	1	1	0.998762	11	64	0	58	0	0	1	0	0	58	5
PTPN13	0	broad.mit.edu	37	4	87724875	87724875	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:87724875G>C	ENST00000436978.1	+	43	7014	c.6534G>C	c.(6532-6534)ctG>ctC	p.L2178L	PTPN13_ENST00000427191.2_Silent_p.L2154L|PTPN13_ENST00000411767.2_Silent_p.L2173L|PTPN13_ENST00000511467.1_Silent_p.L2178L|PTPN13_ENST00000316707.6_Silent_p.L1982L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	8	82	0	94	2173						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATTCCTTTCTGACAAACGATG	0.423000													1	1	1	1	0	1	0.990393	8	88	0	100	1	1.034255e-01	3	3	0	100	4
TMEM155	132332	broad.mit.edu	37	4	122682819	122682819	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:122682819G>C	ENST00000337677.5	-	5	644	c.86C>G	c.(85-87)tCt>tGt	p.S29C	TMEM155_ENST00000394394.1_Missense_Mutation_p.S29C|TMEM155_ENST00000394396.1_Missense_Mutation_p.S29C	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	9	32	0	32	29						extracellular region				breast(1)|lung(5)	6						AATCGCACCAGATGGCATCAG	0.423000													1	1	1	1	1	1	0.995878	9	35	0	34	0	0	0	0	0	34	5
HSPA4L	22824	broad.mit.edu	37	4	128741618	128741618	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:128741618G>C	ENST00000296464.3	+	14	2121	c.1710G>C	c.(1708-1710)caG>caC	p.Q570H	HSPA4L_ENST00000439123.2_Missense_Mutation_p.Q601H|HSPA4L_ENST00000505726.1_Missense_Mutation_p.Q544H|HSPA4L_ENST00000508776.1_Missense_Mutation_p.Q570H|HSPA4L_ENST00000515262.1_3'UTR	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	6	21	0	31	570					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATTAAATCAGACACTTAAAA	0.338000													1	1	1	1	1	1	0.970736	6	23	0	33	0	5.645161e-02	0	2	0	33	5
TBC1D9	23158	broad.mit.edu	37	4	141600123	141600123	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:141600123G>A	ENST00000442267.2	-	5	898	c.824C>T	c.(823-825)tCt>tTt	p.S275F		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	13	118	0	98	275						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTTTTTAGGAGATTTCCTTTT	0.403000													1	1	1	1	0	1	0.999618	13	127	0	104	0	1.034177e-02	0	2	0	104	4
SMARCA5	8467	broad.mit.edu	37	4	144445612	144445612	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:144445612C>G	ENST00000283131.3	+	4	974	c.512C>G	c.(511-513)tCt>tGt	p.S171C		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	5	41	0	22	171					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		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TTTGAAGACTCTCCATCGTGT	0.378000													0	0	1	0	0	1	0.941063	5	43	0	23	1	1.647059e-02	2	0	0	23	1
HHIP	64399	broad.mit.edu	37	4	145567979	145567979	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:145567979G>C	ENST00000296575.3	+	1	807	c.152G>C	c.(151-153)aGa>aCa	p.R51T	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.R51T	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	6	43	0	65	51	Arg-rich.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTGAAAAGGAGAGACAGGAGG	0.582000													1	1	1	1	1	1	0.968011	6	47	0	68	0	0	0	0	0	68	5
FBXW7	0	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	51	72	0	102	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	54	79	0	120	0	0	0	0	0	120	5
TLR2	7097	broad.mit.edu	37	4	154626043	154626043	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:154626043G>C	ENST00000260010.6	+	1	3392	c.1984G>C	c.(1984-1986)Gag>Cag	p.E662Q		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	10	60	0	50	662	TIR.				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			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TATGGTCCAGGAGCTGGAGAA	0.473000													1	1	1	1	1	1	0.997541	10	65	0	51	1	9.962273e-01	12	57	0	51	5
AGA	175	broad.mit.edu	37	4	178360736	178360736	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr4:178360736C>G	ENST00000264595.2	-	3	515	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	14	70	0	97	130					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		ATACCTGACTCTCCTACTAAA	0.343000													1	1	1	1	1	1	0.999962	16	72	0	103	1	8.351073e-01	3	14	0	103	5
EXOC3	11336	broad.mit.edu	37	5	462321	462321	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:462321G>C	ENST00000512944.1	+	9	1741	c.1552G>C	c.(1552-1554)Gag>Cag	p.E518Q	EXOC3_ENST00000315013.5_Missense_Mutation_p.E518Q	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	14	70	0	88	529					exocytosis|protein transport			p.E518*(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		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	0.547000													1	1	0	1	1	1	0.999920	15	77	0	95	1	9.998962e-01	31	58	0	95	4
ADAMTS16	170690	broad.mit.edu	37	5	5306709	5306709	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:5306709G>A	ENST00000274181.7	+	21	3417	c.3279G>A	c.(3277-3279)aaG>aaA	p.K1093K		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	8	52	0	60	1093	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCTCAAAGAAGTGCTCAC	0.522000													1	1	1	1	1	1	0.991006	8	54	0	63	0	0	0	0	0	63	5
ADCY2	108	broad.mit.edu	37	5	7695897	7695897	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:7695897G>A	ENST00000338316.4	+	6	991	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	ADCY2_ENST00000537121.1_Missense_Mutation_p.R121Q	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	17	26	0	35	301					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			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGCTTTACCCGGCTGGCAAGT	0.413000													1	1	1	1	1	1	0.999999	19	28	0	38	0	0	0	0	0	38	5
DNAH5	1767	broad.mit.edu	37	5	13753449	13753449	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:13753449G>C	ENST00000265104.4	-	63	10869	c.10765C>G	c.(10765-10767)Caa>Gaa	p.Q3589E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	11	57	0	48	3589	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTCCATTTTGAATGGACAAG	0.383000									Kartagener syndrome				1	1	1	1	1	1	0.998762	11	64	0	50	0	0	0	0	0	50	5
IQGAP2	10788	broad.mit.edu	37	5	75996926	75996926	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:75996926G>C	ENST00000274364.6	+	34	4690	c.4393G>C	c.(4393-4395)Gat>Cat	p.D1465H	IQGAP2_ENST00000502745.1_Missense_Mutation_p.D961H|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Missense_Mutation_p.D967H|IQGAP2_ENST00000396234.3_Missense_Mutation_p.D961H	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	9	46	0	52	1465					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AATTAAACTAGATGGAAAAGG	0.423000													1	1	1	1	1	1	0.995523	9	47	0	53	1	5.203820e-01	2	8	0	53	5
RASA1	5921	broad.mit.edu	37	5	86649044	86649044	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:86649044C>T	ENST00000456692.2	+	9	908	c.793C>T	c.(793-795)Cca>Tca	p.P265S	RASA1_ENST00000274376.6_Missense_Mutation_p.P442S|RASA1_ENST00000512763.1_Missense_Mutation_p.P275S|RASA1_ENST00000506290.1_Missense_Mutation_p.P276S	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	5	19	0	22	442	SH2 1.				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			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		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)		GGAACCTGTACCAATGCAGGT	0.299000													1	0	0	1	1	1	0.944039	5	22	0	28	0	1.199110e-01	1	2	0	28	3
PJA2	9867	broad.mit.edu	37	5	108704338	108704338	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:108704338C>A	ENST00000361189.2	-	5	1632	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y	PJA2_ENST00000361557.3_Missense_Mutation_p.D465Y	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	15	53	0	65	465					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			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		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)		TCATTCTCATCTTTTCCTGGC	0.423000													1	1	1	1	1	1	0.999933	15	56	0	75	0	5.035172e-02	0	2	0	75	5
SEMA6A	57556	broad.mit.edu	37	5	115782673	115782673	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:115782673G>A	ENST00000343348.6	-	19	3516	c.2729C>T	c.(2728-2730)tCt>tTt	p.S910F	SEMA6A_ENST00000282394.6_Missense_Mutation_p.S387F|SEMA6A_ENST00000257414.8_Missense_Mutation_p.S927F|SEMA6A_ENST00000513137.1_Missense_Mutation_p.S337F|SEMA6A_ENST00000503865.1_Missense_Mutation_p.S289F|SEMA6A_ENST00000510263.1_Missense_Mutation_p.S910F	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	8	77	0	97	910					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		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)		CCCGTAGGAAGAGGAGTGGTG	0.587000													1	1	1	1	0	1	0.990481	8	81	0	102	1	2.978845e-01	2	9	0	102	4
FNIP1	96459	broad.mit.edu	37	5	131006169	131006169	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:131006169G>C	ENST00000307968.7	-	14	3010	c.3011C>G	c.(3010-3012)tCt>tGt	p.S1004C	FNIP1_ENST00000307954.8_Missense_Mutation_p.S987C|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.S1032C	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1	17	89	0	91											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		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)		CACAGCATGAGATAAATCTGA	0.418000													1	1	1	1	1	1	0.999990	18	94	0	97	0	0	0	0	0	97	5
FAM53C	51307	broad.mit.edu	37	5	137682488	137682488	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:137682488C>G	ENST00000239906.5	+	5	1447	c.1019C>G	c.(1018-1020)tCt>tGt	p.S340C	FAM53C_ENST00000513056.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.S340C	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	9	61	0	63	340										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCACCCCTCTCTGCTTCCTGC	0.622000													1	1	1	1	1	1	0.995241	9	62	0	64	0	1.978643e-01	1	4	0	64	5
PCDHA3	0	broad.mit.edu	37	5	140182485	140182485	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:140182485C>A	ENST00000522353.2	+	1	1703	c.1703C>A	c.(1702-1704)cCt>cAt	p.P568H	PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P568H|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1				21	153	0	174											NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGATGCCTCGGGTGGGT	0.687000													1	1	1	1	1	1	1.000000	23	164	0	193	0	0	0	0	0	193	5
SLU7	10569	broad.mit.edu	37	5	159830471	159830471	+	Splice_Site	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:159830471C>T	ENST00000297151.4	-	16	1969	c.1581_splice	c.e16-1	p.A528_splice		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	58	72	0	105	528					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			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	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)			GCGTTCAGTGCCTATAGTGAG	0.458000													1	1	1	1	1	1	1.000000	59	74	0	109	1	1	77	26	0	109	5
STK10	6793	broad.mit.edu	37	5	171533727	171533727	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:171533727C>G	ENST00000176763.5	-	6	1028	c.685G>C	c.(685-687)Gag>Cag	p.E229Q		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	13	63	0	75	229	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	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)			TGGGCCATCTCAATCAGCGTG	0.597000											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999842	14	72	0	83	0	2.742249e-01	1	5	0	83	5
FGFR4	2264	broad.mit.edu	37	5	176519359	176519359	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:176519359C>T	ENST00000292408.4	+	7	1010	c.765C>T	c.(763-765)ctC>ctT	p.L255L	FGFR4_ENST00000393648.2_Silent_p.L255L|FGFR4_ENST00000393637.1_Silent_p.L255L|FGFR4_ENST00000292410.3_Silent_p.L255L|FGFR4_ENST00000502906.1_Silent_p.L255L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	7	24	0	26	255	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	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)	AGGCCGGGCTCCCGGCCAACA	0.667000										TSP Lung(9;0.080)			1	1	1	1	1	1	0.992589	8	24	0	28	1	9.985472e-01	22	23	0	28	5
BTNL8	79908	broad.mit.edu	37	5	180374588	180374588	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr5:180374588C>T	ENST00000231229.4	+	4	984	c.750C>T	c.(748-750)ggC>ggT	p.G250G	BTNL8_ENST00000400707.3_Silent_p.G125G|BTNL8_ENST00000340184.4_Silent_p.G250G|BTNL8_ENST00000511704.1_Silent_p.G134G|BTNL8_ENST00000508408.1_Silent_p.G250G|BTNL8_ENST00000505126.1_Silent_p.G43G|BTNL8_ENST00000533815.2_Silent_p.G66G	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	29	223	0	186	250						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	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)			TATTTTTTGGCATTGTTGGAC	0.463000													1	1	1	1	1	1	1.000000	29	246	0	201	0	0	0	0	0	201	5
DSP	1832	broad.mit.edu	37	6	7571654	7571654	+	Silent	SNP	A	A	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:7571654A>T	ENST00000379802.3	+	14	2081	c.1740A>T	c.(1738-1740)atA>atT	p.I580I	DSP_ENST00000418664.2_Silent_p.I580I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	27	261	0	178	580	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			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAAGACGATAGCCGACCTTG	0.443000													1	1	1	1	0	1	1.000000	28	289	0	200	0	0	0	1	0	200	4
ALDH5A1	7915	broad.mit.edu	37	6	24515420	24515420	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:24515420C>T	ENST00000357578.3	+	5	897	c.752C>T	c.(751-753)tCa>tTa	p.S251L	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.S264L|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.S223L|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.S163L	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	6	68	0	59	251					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			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GGGATTCCTTCAGGTGTATAC	0.378000													0	0	1	0	0	1	0.966756	6	81	0	75	1	3.016093e-01	3	11	0	75	1
HIST1H2AK	8330	broad.mit.edu	37	6	27805761	27805761	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:27805761C>T	ENST00000330180.2	-	1	356	c.357G>A	c.(355-357)aaG>aaA	p.K119K		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	10	156	0	132	119					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCTCAGTTTTCTTAGGCAGCA	0.552000													1	0	1	1	0	1	0.997147	10	162	0	141	0	0	0	0	0	141	3
PRRC2A	7916	broad.mit.edu	37	6	31604698	31604698	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:31604698C>G	ENST00000376033.2	+	28	6357	c.6123C>G	c.(6121-6123)ttC>ttG	p.F2041L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.F2041L	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	12	128	0	95	2041	3 X 50 AA type C repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCAGGCCCTTCCCCGCTAGCT	0.632000													1	1	1	1	1	1	0.999247	12	134	0	100	1	1	111	651	0	100	5
TNXB	7148	broad.mit.edu	37	6	32063827	32063827	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:32063827C>A	ENST00000375244.3	-	3	2004	c.1803G>T	c.(1801-1803)caG>caT	p.Q601H	TNXB_ENST00000375247.2_Missense_Mutation_p.Q601H|TNXB_ENST00000479795.1_Missense_Mutation_p.Q601H			P22105	TENX_HUMAN	tenascin XB	8	55	0	64	601	EGF-like 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACACACCGTCCTGGCACACGC	0.647000													1	0	1	1	1	1	0.990878	8	59	0	67	0	0	0	0	0	67	4
PRRT1	80863	broad.mit.edu	37	6	32117019	32117019	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:32117019C>T	ENST00000211413.5	-	4	1025	c.901G>A	c.(901-903)Gag>Aag	p.E301K	PRRT1_ENST00000375152.2_Missense_Mutation_p.E220K|PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375150.2_Missense_Mutation_p.E220K	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	11	30	0	31	301					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CAGTAGTTCTCGTGGTGCTGC	0.627000													1	1	1	1	1	1	0.999063	11	32	0	35	1	5.810057e-01	4	3	0	35	5
ANKS1A	23294	broad.mit.edu	37	6	35021903	35021903	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:35021903G>A	ENST00000360359.3	+	12	2176	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	11	68	0	51	680						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTCTATTGGAGAAGGGATTGA	0.478000													1	1	0	1	1	1	0.998710	11	74	0	58	0	2.037618e-02	1	1	0	58	4
RRP36	88745	broad.mit.edu	37	6	42996873	42996873	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:42996873G>C	ENST00000244496.5	+	7	697	c.687G>C	c.(685-687)ctG>ctC	p.L229L		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	23	256	0	225	229					ribosomal small subunit biogenesis|rRNA processing	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TCAAGGAGCTGAAACGCAGCA	0.468000													1	1	1	1	1	1	1.000000	23	265	0	234	1	9.999989e-01	45	223	0	234	5
CAPN11	11131	broad.mit.edu	37	6	44144372	44144372	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:44144372G>C	ENST00000542245.1	+	10	1094	c.1056G>C	c.(1054-1056)aaG>aaC	p.K352N	CAPN11_ENST00000398776.1_Missense_Mutation_p.K352N			Q9UMQ6	CAN11_HUMAN	calpain 11	11	68	0	54	352	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	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)			TGCTGCACAAGACGGAGGACG	0.627000													1	1	1	1	1	1	0.999669	13	78	0	60	0	0	0	0	0	60	5
SLC35B2	347734	broad.mit.edu	37	6	44224543	44224543	+	Silent	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:44224543C>A	ENST00000393812.3	-	2	227	c.84G>T	c.(82-84)ccG>ccT	p.P28P	SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000538577.1_5'UTR|SLC35B2_ENST00000393810.1_Silent_p.P28P	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	18	109	0	88	28					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	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)			TCCATGACTCCGGAGGGGCTT	0.577000													1	1	1	1	1	1	0.999994	19	120	0	94	1	9.207868e-01	12	18	0	94	5
EEF1A1	1915	broad.mit.edu	37	6	74229640	74229640	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:74229640C>T	ENST00000316292.9	-	1	1101	c.110G>A	c.(109-111)aGa>aAa	p.R37K	EEF1A1_ENST00000331523.2_Missense_Mutation_p.R37K|EEF1A1_ENST00000309268.6_Missense_Mutation_p.R37K	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	5	60	0	50	37						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTCAATGGTTCTTTTGTCGAT	0.408000													1	0	1	1	0	1	0.967229	6	64	0	47	0	2.200737e-01	1	8	0	47	3
ORC3	23595	broad.mit.edu	37	6	88317395	88317395	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:88317395G>C	ENST00000392844.3	+	6	480	c.432G>C	c.(430-432)atG>atC	p.M144I	ORC3_ENST00000417380.2_Missense_Mutation_p.M91I|ORC3_ENST00000546266.1_Start_Codon_SNP_p.M1I|ORC3_ENST00000478028.1_3'UTR|ORC3_ENST00000257789.4_Missense_Mutation_p.M144I	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	4	31	0	30	144					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			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CCACAGATATGAAACATTTTT	0.338000													0	0	1	0	1	1	0.893960	4	34	0	32	1	3.961279e-01	2	9	0	32	2
CNR1	0	broad.mit.edu	37	6	88854953	88854953	+	Missense_Mutation	SNP	C	C	A	rs142010122		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:88854953C>A	ENST00000537554.1	-	2	3603	c.41G>T	c.(40-42)cGc>cTc	p.R14L	CNR1_ENST00000535130.1_Missense_Mutation_p.R14L|CNR1_ENST00000468898.1_Missense_Mutation_p.R14L|CNR1_ENST00000362094.5_Missense_Mutation_p.R14L|CNR1_ENST00000369499.2_Missense_Mutation_p.R14L|CNR1_ENST00000428600.2_Missense_Mutation_p.R14L|CNR1_ENST00000369501.2_Missense_Mutation_p.R14L|CNR1_ENST00000549890.1_Missense_Mutation_p.R14L|CNR1_ENST00000549716.1_Missense_Mutation_p.A9S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	11	118	0	82	14					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		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)	GGTGATGGTGCGGAAGGTGGT	0.483000													1	1	1	1	0	1	0.999250	12	131	0	94	0	0	0	0	0	94	4
MDN1	23195	broad.mit.edu	37	6	90371187	90371187	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:90371187C>T	ENST00000369393.3	-	88	14791	c.14676G>A	c.(14674-14676)aaG>aaA	p.K4892K	MDN1_ENST00000428876.1_Silent_p.K4892K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	7	101	0	73	4892					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		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)		CACCACCATTCTTGTCTTCAC	0.458000													1	1	1	1	0	1	0.990138	8	116	0	87	0	3.001396e-02	1	3	0	87	4
L3MBTL3	84456	broad.mit.edu	37	6	130392265	130392265	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:130392265G>A	ENST00000529410.1	+	15	1716	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.D413N|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.D388N|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.D388N|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.D388N|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.D413N			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	16	135	0	99	413					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGAGAGCTATGACTATTGGTG	0.343000													1	1	1	1	0	1	0.999948	16	149	0	108	0	0	0	0	0	108	4
EPB41L2	2037	broad.mit.edu	37	6	131179290	131179290	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:131179290C>G	ENST00000337057.3	-	19	3185	c.3004G>C	c.(3004-3006)Gaa>Caa	p.E1002Q	EPB41L2_ENST00000529208.1_Missense_Mutation_p.E932Q|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E670Q|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E932Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E808Q|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E744Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E849Q|EPB41L2_ENST00000530757.1_Missense_Mutation_p.E198Q|EPB41L2_ENST00000531410.1_Missense_Mutation_p.E123Q|EPB41L2_ENST00000525193.1_Missense_Mutation_p.E703Q|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E380Q|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E670Q|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E744Q|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E1002Q	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	21	148	0	125	1002	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCTTCCCCTTCCTCAGCCAAC	0.502000													1	1	1	1	1	1	0.999999	22	168	0	137	1	9.973340e-01	16	59	0	137	5
VNN2	8875	broad.mit.edu	37	6	133072608	133072608	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr6:133072608C>T	ENST00000326499.6	-	5	1000	c.876G>A	c.(874-876)atG>atA	p.M292I	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Missense_Mutation_p.M239I	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	14	69	0	56	292	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		ACTCTGTCTTCATGTCATAAT	0.428000													1	1	1	1	1	1	0.999982	17	72	0	58	0	4.085045e-02	0	2	0	58	5
MAD1L1	8379	broad.mit.edu	37	7	2188795	2188795	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:2188795G>A	ENST00000406869.1	-	11	1622	c.1065C>T	c.(1063-1065)gtC>gtT	p.V355V	MAD1L1_ENST00000399654.2_Silent_p.V355V|MAD1L1_ENST00000402746.1_Silent_p.V263V|MAD1L1_ENST00000265854.7_Silent_p.V355V			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	5	45	0	45	355					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			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ACCTGCTGGTGACGGCGCTGT	0.582000													0	0	1	0	0	1	0.940536	5	51	0	48	1	9.459279e-01	3	55	0	48	1
SDK1	221935	broad.mit.edu	37	7	4050669	4050669	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:4050669C>G	ENST00000404826.2	+	15	2342	c.2203C>G	c.(2203-2205)Ccg>Gcg	p.P735A	SDK1_ENST00000389531.3_Missense_Mutation_p.P735A	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	4	45	0	48	735	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		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)		TGGCCTGACTCCGGCTCGTAC	0.572000													1	0	1	1	0	1	0.940652	5	49	0	52	0	0	0	0	0	52	3
RAC1	5879	broad.mit.edu	37	7	6431634	6431634	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:6431634G>C	ENST00000348035.4	+	3	400	c.187G>C	c.(187-189)Gat>Cat	p.D63H	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.D63H	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	38	59	0	70	63			D -> G (in dbSNP:rs5831).		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			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TGGACAAGAAGATTATGACAG	0.393000													1	1	1	1	1	1	1.000000	40	62	0	78	1	9.727817e-01	6	6	0	78	5
AGR3	155465	broad.mit.edu	37	7	16901059	16901059	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:16901059C>G	ENST00000310398.2	-	6	386	c.316G>C	c.(316-318)Gat>Cat	p.D106H	AGR3_ENST00000402239.3_Missense_Mutation_p.D106H	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	5	53	0	51	106						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		AAATTCTTATCAGTGGTTTCA	0.318000													0	1	1	0	0	1	0.940233	5	57	0	56	0	0	0	1	0	56	2
TRA2A	29896	broad.mit.edu	37	7	23561449	23561449	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:23561449G>C	ENST00000297071.4	-	2	263	c.47C>G	c.(46-48)tCt>tGt	p.S16C	TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	4	50	0	31	16					nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TTTTGACTGAGAGCGAGACTC	0.418000													1	0	1	1	0	1	0.940427	5	53	0	34	1	8.401608e-01	5	33	0	34	3
PLEKHA8	84725	broad.mit.edu	37	7	30088967	30088967	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:30088967C>T	ENST00000449726.1	+	5	916	c.566C>T	c.(565-567)tCa>tTa	p.S189L	PLEKHA8_ENST00000396259.1_Missense_Mutation_p.S189L|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.S189L|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.S189L	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	8	91	0	67	189					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CCACCAGGATCACCTCAGCTG	0.458000													1	1	1	1	0	1	0.994872	9	99	0	69	0	0	0	1	0	69	4
SFRP4	6424	broad.mit.edu	37	7	37951728	37951728	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:37951728G>A	ENST00000436072.2	-	4	1161	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	7	61	0	47	262	NTR.				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			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TACCTTGAGCGCCACTCGTAA	0.443000													1	0	1	1	1	1	0.990767	8	64	0	52	0	7.961796e-02	0	4	0	52	4
NPC1L1	29881	broad.mit.edu	37	7	44571714	44571714	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:44571714G>C	ENST00000289547.4	-	9	2567	c.2512C>G	c.(2512-2514)Ccc>Gcc	p.P838A	NPC1L1_ENST00000546276.1_Missense_Mutation_p.P838A|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P838A	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	25	71	0	69	838					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AGCAGGAAGGGGGCATAAGCC	0.642000													1	1	1	1	1	1	1.000000	26	78	0	75	1	5.608122e-01	6	1	0	75	5
EIF4H	7458	broad.mit.edu	37	7	73588769	73588769	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:73588769G>A	ENST00000265753.8	+	1	195	c.56G>A	c.(55-57)aGa>aAa	p.R19K	EIF4H_ENST00000353999.6_Missense_Mutation_p.R19K	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	5	22	0	30	19					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			endometrium(1)|lung(2)|prostate(1)	4						GGCGGCGGCAGAGGGTGAGGC	0.746000													0	0	1	0	0	1	0.943142	5	26	0	31	1	9.852480e-01	10	38	0	31	1
ZSCAN21	7589	broad.mit.edu	37	7	99661659	99661659	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99661659G>A	ENST00000292450.4	+	4	1005	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000543588.1_Intron|ZSCAN21_ENST00000456748.2_Intron|ZSCAN21_ENST00000477297.1_Intron	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	6	70	0	59	281					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TATATGTGCTGAATGTGGCAA	0.453000													1	1	1	1	0	1	0.966953	6	73	0	61	0	4.781268e-01	1	18	0	61	4
CNPY4	245812	broad.mit.edu	37	7	99722164	99722164	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99722164G>C	ENST00000262932.3	+	5	625	c.493G>C	c.(493-495)Gac>Cac	p.D165H	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	12	79	0	63	165	Glu-rich.					extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGAGTTTGAAGACATTGTGGG	0.512000													1	1	1	1	1	1	0.999916	15	85	0	69	1	9.464358e-01	2	29	0	69	5
CNPY4	245812	broad.mit.edu	37	7	99722446	99722446	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99722446G>C	ENST00000262932.3	+	6	814	c.682G>C	c.(682-684)Gag>Cag	p.E228Q	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	11	140	0	110	228	Glu-rich.					extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					agaggaggaagaggaaggggG	0.537000													1	1	0	1	0	1	0.998520	11	149	0	120	1	5.211237e-01	4	20	0	120	3
CNPY4	245812	broad.mit.edu	37	7	99722494	99722494	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:99722494G>A	ENST00000262932.3	+	6	862	c.730G>A	c.(730-732)Gac>Aac	p.D244N	CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	11	158	0	110	244						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCAAACTTGACCGAGAAGA	0.557000													1	1	1	1	0	1	0.999590	13	181	0	123	1	8.761632e-01	3	51	0	123	4
PTPRZ1	5803	broad.mit.edu	37	7	121652283	121652283	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:121652283G>C	ENST00000393386.2	+	12	3594	c.3183G>C	c.(3181-3183)gaG>gaC	p.E1061D	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	10	83	0	52	1061					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.E1061E(3)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTTCAATGAGATGGTTTACC	0.348000													1	1	1	1	1	1	0.998645	11	90	0	57	0	0	0	0	0	57	5
TSGA13	114960	broad.mit.edu	37	7	130356587	130356587	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:130356587G>C	ENST00000456951.1	-	8	1423	c.572C>G	c.(571-573)tCa>tGa	p.S191*	TSGA13_ENST00000356588.3_Nonsense_Mutation_p.S191*			Q96PP4	TSG13_HUMAN	testis specific, 13	14	57	0	66	191										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GTAGACTTTTGAATACTTCCC	0.423000													1	1	1	1	1	1	0.999967	16	60	0	70	0	0	0	0	0	70	5
CLCN1	1180	broad.mit.edu	37	7	143028681	143028681	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:143028681C>G	ENST00000343257.2	+	10	1189	c.1102C>G	c.(1102-1104)Ctg>Gtg	p.L368V		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	7	62	0	82	368					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.L368V(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ATTTGTGTATCTGCATCGCCA	0.473000													1	1	1	1	0	1	0.982352	7	68	0	100	0	0	0	0	0	100	4
EBF2	64641	broad.mit.edu	37	8	25715961	25715961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:25715961G>A	ENST00000520164.1	-	14	1939	c.1402C>T	c.(1402-1404)Caa>Taa	p.Q468*	EBF2_ENST00000535548.1_Nonsense_Mutation_p.Q199*|EBF2_ENST00000408929.3_Nonsense_Mutation_p.Q320*	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	7	69	0	86	468	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		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)		TTAGACTGTTGAGGCGTGGAG	0.502000													1	1	1	1	0	1	0.982256	7	72	0	92	0	0	0	0	0	92	4
WRN	7486	broad.mit.edu	37	8	30989971	30989971	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:30989971C>G	ENST00000298139.5	+	24	3165	c.2916C>G	c.(2914-2916)atC>atG	p.I972M		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	6	21	0	32	972					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			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGTGGACATCTTAGGCGAAA	0.368000			Mis, N, F, S			osteosarcoma, meningioma, others		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				1	1	1	1	1	1	0.970533	6	24	0	34	0	0	1	0	0	34	5
PREX2	80243	broad.mit.edu	37	8	69103983	69103983	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:69103983C>T	ENST00000288368.4	+	36	4650	c.4373C>T	c.(4372-4374)tCa>tTa	p.S1458L		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	7	23	0	16	1458					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AAGTCAAATTCACCACCAAAC	0.303000													1	0	1	1	1	1	0.996183	9	28	0	22	0	0	0	0	0	22	4
FAM92A1	137392	broad.mit.edu	37	8	94740446	94740446	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:94740446G>A	ENST00000518322.1	+	9	932	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	FAM92A1_ENST00000423990.2_Missense_Mutation_p.R226Q|FAM92A1_ENST00000520363.1_3'UTR|FAM92A1_ENST00000517718.1_Missense_Mutation_p.R109Q	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	6	37	0	31	264										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCACTTGTCGACTAAGAAAG	0.279000													1	0	1	1	1	1	0.991376	8	43	0	35	1	9.926925e-01	12	41	0	35	4
ESRP1	54845	broad.mit.edu	37	8	95676969	95676969	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:95676969G>A	ENST00000433389.2	+	7	879	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	ESRP1_ENST00000454170.2_Missense_Mutation_p.R230Q|ESRP1_ENST00000423620.2_Missense_Mutation_p.R230Q|ESRP1_ENST00000358397.5_Missense_Mutation_p.R230Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	8	50	0	45	230	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GTCAGGGCACGAGGTTTACCA	0.383000													1	1	1	1	1	1	0.990878	8	59	0	49	0	0	0	0	0	49	5
VPS13B	157680	broad.mit.edu	37	8	100205244	100205244	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:100205244C>T	ENST00000395996.1	+	17	2585	c.2474C>T	c.(2473-2475)gCa>gTa	p.A825V	VPS13B_ENST00000358544.2_Missense_Mutation_p.A825V|VPS13B_ENST00000357162.2_Missense_Mutation_p.A825V|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000355155.1_Missense_Mutation_p.A825V			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	4	38	0	25	825					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGCTCTTCCGCAGTGATTGAA	0.358000													0	1	1	0	0	1	0.893475	4	40	0	26	0	0	0	0	0	26	2
FER1L6	654463	broad.mit.edu	37	8	125076587	125076587	+	Splice_Site	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr8:125076587G>T	ENST00000522917.1	+	26	3534		c.e26-1		FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Splice_Site	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	17	107	0	125							integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTCATTTCAGATATTTCAGA	0.507000													1	0	1	1	1	1	0.999977	17	114	0	135	0	0	0	0	0	135	4
MPDZ	8777	broad.mit.edu	37	9	13121861	13121861	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:13121861C>G	ENST00000319217.7	-	38	5355	c.5108G>C	c.(5107-5109)aGa>aCa	p.R1703T	MPDZ_ENST00000536827.1_Missense_Mutation_p.R1670T|MPDZ_ENST00000546205.1_Missense_Mutation_p.R1717T|MPDZ_ENST00000447879.1_Missense_Mutation_p.R1670T|MPDZ_ENST00000381015.4_Missense_Mutation_p.R1703T|MPDZ_ENST00000538841.1_Missense_Mutation_p.R562T|MPDZ_ENST00000381022.2_Missense_Mutation_p.R1703T|MPDZ_ENST00000541718.1_Missense_Mutation_p.R1703T|MPDZ_ENST00000541093.1_5'UTR	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	5	21	0	25	1703	PDZ 10.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CAGGCGCACTCTCTGTGGCGT	0.498000													1	1	0	1	1	1	0.944039	5	22	0	27	0	0	0	0	0	27	4
ELAVL2	1993	broad.mit.edu	37	9	23692637	23692637	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:23692637G>A	ENST00000397312.2	-	7	1272	c.998C>T	c.(997-999)gCg>gTg	p.A333V	ELAVL2_ENST00000380117.1_Missense_Mutation_p.A333V|ELAVL2_ENST00000544538.1_Missense_Mutation_p.A333V|ELAVL2_ENST00000380110.4_Missense_Mutation_p.A363V|ELAVL2_ENST00000223951.6_Missense_Mutation_p.A320V	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	19	44	0	54	333	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GCTAGCTATCGCCATGGCAGC	0.453000													1	1	1	1	1	1	0.999997	19	46	0	56	0	0	0	0	0	56	5
KIAA1161	57462	broad.mit.edu	37	9	34372195	34372195	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:34372195C>G	ENST00000297625.7	-	2	870	c.645G>C	c.(643-645)tgG>tgC	p.W215C		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	6	17	0	21	249					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCGTGCTGTTCCAGCCCAGGT	0.687000													1	1	1	1	1	1	0.972020	6	18	0	21	0	0	0	1	0	21	5
RUSC2	9853	broad.mit.edu	37	9	35560367	35560367	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:35560367G>C	ENST00000455600.1	+	10	4299	c.3730G>C	c.(3730-3732)Gaa>Caa	p.E1244Q		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	9	30	0	43	1244	Poly-Glu.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			ggaagaggaagaagaggagac	0.687000													1	1	1	1	1	1	0.995956	9	33	0	45	1	6.729976e-01	4	6	0	45	5
RUSC2	9853	broad.mit.edu	37	9	35561242	35561242	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:35561242G>A	ENST00000455600.1	+	12	4983	c.4414G>A	c.(4414-4416)Gac>Aac	p.D1472N		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	8	80	0	104	1472	SH3.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCACAAAGGAGACATCCTACG	0.652000													1	1	1	1	0	1	0.990455	8	83	0	111	0	5.900289e-01	1	20	0	111	4
PTPN3	0	broad.mit.edu	37	9	112195361	112195361	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:112195361G>C	ENST00000412145.1	-	5	2916	c.363C>G	c.(361-363)ttC>ttG	p.F121L	PTPN3_ENST00000374541.2_Missense_Mutation_p.F252L|PTPN3_ENST00000446349.1_Missense_Mutation_p.F121L|PTPN3_ENST00000262539.3_Missense_Mutation_p.F143L	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	5	36	0	34	252	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			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ACCAAGGATAGAAACTTGTGC	0.348000													1	1	1	1	0	1	0.968276	6	43	0	39	0	0	0	0	0	39	4
SPTAN1	6709	broad.mit.edu	37	9	131388873	131388873	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:131388873G>C	ENST00000358161.5	+	49	6596	c.6483G>C	c.(6481-6483)caG>caC	p.Q2161H	SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q2161H|SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q2156H			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	4	55	0	47	2156					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			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGGACCGCCAGATCAAGAGCT	0.587000													1	1	0	1	1	1	0.982676	7	57	0	49	1	9.998155e-01	23	143	0	49	4
ABCA2	20	broad.mit.edu	37	9	139910184	139910184	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:139910184C>G	ENST00000265662.5	-	23	3604	c.3457G>C	c.(3457-3459)Ggc>Cgc	p.G1153R	ABCA2_ENST00000341511.6_Missense_Mutation_p.G1153R|ABCA2_ENST00000371605.3_Missense_Mutation_p.G1152R			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	5	33	0	45	1152	ABC transporter 1.				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			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	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)		GGGTCCACGCCCGCCGTGGGC	0.692000													1	0	1	1	0	1	0.968768	6	37	0	45	0	0	0	1	0	45	3
MAN1B1	11253	broad.mit.edu	37	9	139995996	139995996	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr9:139995996G>A	ENST00000371589.4	+	8	1199	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	MAN1B1_ENST00000474902.1_Missense_Mutation_p.D79N	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	5	42	0	57	376					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			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	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)		TCCTTACTCGGATGTGAACAT	0.547000													1	1	1	1	1	1	0.968276	6	43	0	61	1	9.682758e-01	5	44	0	61	5
KIAA1462	57608	broad.mit.edu	37	10	30317227	30317227	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:30317227G>T	ENST00000375377.1	-	3	1951	c.1850C>A	c.(1849-1851)cCg>cAg	p.P617Q		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	26	38	0	51	617										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTGCAGAGCCGGGCTCTTATC	0.493000													1	1	1	1	1	1	1.000000	27	42	0	51	0	0	0	1	0	51	5
AP3M1	26985	broad.mit.edu	37	10	75883653	75883653	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:75883653C>T	ENST00000355264.4	-	9	1483	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	AP3M1_ENST00000372745.1_Missense_Mutation_p.R391H	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	18	68	0	62	391	MHD.				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CATGTCCAAACGGTTTACTTT	0.353000													1	1	1	1	1	1	0.999996	19	69	0	71	1	8.319041e-01	8	6	0	71	5
STAMBPL1	57559	broad.mit.edu	37	10	90665330	90665330	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:90665330C>G	ENST00000371927.3	+	3	1119	c.161C>G	c.(160-162)tCt>tGt	p.S54C	STAMBPL1_ENST00000371926.3_Missense_Mutation_p.S54C|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S54C			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	14	53	0	50	54							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TACTTTAGGTCTGGAGTAGAG	0.408000													1	1	1	1	1	1	0.999930	15	60	0	58	1	4.404061e-01	2	5	0	58	5
IDE	3416	broad.mit.edu	37	10	94294450	94294450	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:94294450C>T	ENST00000265986.6	-	3	432	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	5	38	0	38	126					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			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGCTGTATTCATTTTCTTTA	0.368000													1	1	1	1	1	1	0.941496	5	38	0	39	0	0	0	0	0	39	5
HPS6	79803	broad.mit.edu	37	10	103825882	103825882	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:103825882C>G	ENST00000299238.5	+	1	736	c.651C>G	c.(649-651)ctC>ctG	p.L217L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	23	58	0	89	217						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		ACGTTCTACTCATCTGGAGCC	0.622000									Hermansky-Pudlak syndrome				1	1	1	1	1	1	1.000000	23	63	0	92	1	8.296074e-01	6	5	0	92	5
NOLC1	9221	broad.mit.edu	37	10	103921999	103921999	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:103921999C>T	ENST00000405356.1	+	13	2338	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	NOLC1_ENST00000477977.1_Intron|NOLC1_ENST00000603742.1_Silent_p.V410V|NOLC1_ENST00000488254.2_Silent_p.V692V|NOLC1_ENST00000605788.1_Silent_p.V691V			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	32	208	0	216	691					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTGTCCAGGTCAATTCTATTA	0.507000													1	1	1	1	1	1	1.000000	36	230	0	237	1	1	44	141	0	237	5
SORCS1	114815	broad.mit.edu	37	10	108412181	108412181	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:108412181C>A	ENST00000263054.6	-	18	2441	c.2434G>T	c.(2434-2436)Gaa>Taa	p.E812*	SORCS1_ENST00000344440.6_Nonsense_Mutation_p.E812*|SORCS1_ENST00000369698.1_Nonsense_Mutation_p.E347*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	10	58	0	79	812	PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGTCCTTGTTCCGCTGTCAGC	0.522000													1	0	1	1	1	1	0.998745	11	67	0	89	0	0	0	0	0	89	4
DCLRE1A	9937	broad.mit.edu	37	10	115608914	115608914	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:115608914C>G	ENST00000361384.2	-	2	2867	c.1950G>C	c.(1948-1950)caG>caC	p.Q650H	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.Q650H	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	20	124	0	151	650					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CTGATCTCTTCTGACACGCTC	0.413000								Other identified genes with known or suspected DNA repair function					1	1	1	1	1	1	0.999997	20	134	0	160	0	5.109806e-02	1	2	0	160	5
PNLIPRP1	5407	broad.mit.edu	37	10	118354353	118354353	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:118354353G>A	ENST00000528052.1	+	5	513	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.A148T|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.A148T			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	8	26	0	37	148					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.A148S(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CGCCCAGGTGGCCCAGATGCT	0.602000													1	1	1	1	1	1	0.992231	8	28	0	38	0	0	0	0	0	38	5
PDZD8	118987	broad.mit.edu	37	10	119043585	119043585	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:119043585C>G	ENST00000334464.5	-	5	2898	c.2659G>C	c.(2659-2661)Gag>Cag	p.E887Q		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	8	53	0	54	887					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACAGAAGTCTCAGCTAGACAC	0.433000													1	1	1	1	1	1	0.995395	9	53	0	56	0	1.229908e-01	1	3	0	56	5
MKI67	4288	broad.mit.edu	37	10	129900912	129900912	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:129900912C>G	ENST00000368654.3	-	13	9567	c.9192G>C	c.(9190-9192)gaG>gaC	p.E3064D	MKI67_ENST00000368653.3_Missense_Mutation_p.E2704D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	10	92	0	124	3064					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		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)				TGCTGTTCAGCTCTTCCGCAG	0.448000													1	0	1	1	0	1	0.997340	10	96	0	128	1	7.070087e-01	4	21	0	128	3
INPP5A	3632	broad.mit.edu	37	10	134563349	134563349	+	Splice_Site	SNP	G	G	A	rs142848612		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr10:134563349G>A	ENST00000368594.3	+	11	1180	c.903_splice	c.e11+1	p.A301_splice	INPP5A_ENST00000368593.3_Splice_Site_p.A301_splice	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	17	81	0	102	301					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			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		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)		ACGGCACCGCGGTGAGTTTGT	0.562000													1	1	1	1	1	1	0.999990	18	86	0	108	1	4.307151e-01	2	6	0	108	5
DCHS1	8642	broad.mit.edu	37	11	6655238	6655238	+	Missense_Mutation	SNP	G	G	C	rs146086570	byFrequency	TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:6655238G>C	ENST00000299441.3	-	4	2411	c.2000C>G	c.(1999-2001)tCc>tGc	p.S667C	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	9	60	0	67	667	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATACCATGGACTTGAGGCC	0.552000													1	1	1	1	1	1	0.995226	9	63	0	69	0	0	0	0	0	69	5
COPB1	1315	broad.mit.edu	37	11	14490983	14490983	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:14490983C>G	ENST00000249923.3	-	15	2164	c.1864G>C	c.(1864-1866)Gaa>Caa	p.E622Q	COPB1_ENST00000439561.2_Missense_Mutation_p.E622Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	4	59	0	79	622					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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GGTGAACATTCAGACAAGACC	0.388000													0	0	1	0	1	1	0.892544	4	60	0	83	1	8.678233e-01	8	50	0	83	2
PRR5L	79899	broad.mit.edu	37	11	36484194	36484194	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:36484194G>C	ENST00000378867.3	+	10	1370	c.1015G>C	c.(1015-1017)Gag>Cag	p.E339Q	PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.E266Q|PRR5L_ENST00000530639.1_Missense_Mutation_p.E339Q	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	11	38	0	57	339										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						GTGCTCCAGTGAGCCCAACAT	0.667000													1	1	1	1	1	1	0.999484	12	42	0	62	0	7.775681e-01	0	12	0	62	5
OR4C16	219428	broad.mit.edu	37	11	55339928	55339928	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:55339928G>C	ENST00000314634.3	+	1	325	c.325G>C	c.(325-327)Gag>Cag	p.E109Q		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	17	126	0	95	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGGCTGCCTGGAGATCTTCAT	0.483000													1	1	1	1	1	1	0.999994	19	133	0	102	0	0	0	0	0	102	5
YPEL4	219539	broad.mit.edu	37	11	57413814	57413814	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:57413814C>T	ENST00000524669.1	-	4	2972	c.250G>A	c.(250-252)Gac>Aac	p.D84N	YPEL4_ENST00000534711.1_Missense_Mutation_p.D84N|AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000544993.1_Missense_Mutation_p.D84N|YPEL4_ENST00000300022.3_Missense_Mutation_p.D84N			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	6	75	0	56	84						nucleolus				lung(2)|skin(1)	3						CAGAAAATGTCAGCTACCGAG	0.567000													1	0	1	1	0	1	0.966631	6	87	0	60	0	3.245872e-02	0	4	0	60	3
UBXN1	51035	broad.mit.edu	37	11	62444465	62444465	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:62444465C>T	ENST00000294119.2	-	8	795	c.664G>A	c.(664-666)Gat>Aat	p.D222N	UBXN1_ENST00000529640.1_Missense_Mutation_p.D218N|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000301935.5_Missense_Mutation_p.D222N|UBXN1_ENST00000533000.1_Intron	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	10	84	0	70	222	Interaction with BRCA1.|UBX.				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			endometrium(5)|lung(12)	17						GAGGTCCCATCTGGCAGCCTG	0.582000													0	0	1	0	0	1	0.997386	10	87	0	73	1	1	140	792	0	73	1
TAF6L	10629	broad.mit.edu	37	11	62549791	62549791	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:62549791C>G	ENST00000294168.3	+	8	1014	c.813C>G	c.(811-813)ctC>ctG	p.L271L	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	37	100	0	118	271					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			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CCCTCCTGCTCAGCCACATCT	0.607000													1	1	1	1	1	1	1.000000	44	112	0	133	1	9.999919e-01	25	26	0	133	5
PLCB3	5331	broad.mit.edu	37	11	64033632	64033632	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:64033632C>G	ENST00000540288.1	+	27	3327	c.3224C>G	c.(3223-3225)gCa>gGa	p.A1075G	PLCB3_ENST00000279230.6_Missense_Mutation_p.A1075G|PLCB3_ENST00000325234.5_Missense_Mutation_p.A1008G	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	10	164	0	82	1075					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GTCCTTGATGCAAACACAACT	0.567000													1	1	1	1	1	1	0.999589	13	184	0	87	1	9.998078e-01	27	193	0	87	5
CDC42EP2	10435	broad.mit.edu	37	11	65088726	65088726	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:65088726C>T	ENST00000544348.1	+	2	963	c.357C>T	c.(355-357)ctC>ctT	p.L119L	CDC42EP2_ENST00000279249.2_Silent_p.L119L|CDC42EP2_ENST00000533419.1_Silent_p.L119L			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	13	77	0	77	119					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			lung(1)	1						CCCAGGCTCTCACCCTGCCCA	0.692000													1	1	1	1	1	1	0.999959	16	84	0	91	1	9.869364e-01	7	34	0	91	5
C2CD3	26005	broad.mit.edu	37	11	73850728	73850728	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:73850728G>C	ENST00000334126.7	-	4	855	c.629C>G	c.(628-630)tCa>tGa	p.S210*	C2CD3_ENST00000539061.1_Nonsense_Mutation_p.S210*|C2CD3_ENST00000313663.7_Nonsense_Mutation_p.S210*			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	25	170	0	127	210						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCGAGGCCTTGATGGAACCTG	0.438000													1	1	1	1	1	1	1.000000	25	185	0	130	0	0	0	0	0	130	5
RSF1	51773	broad.mit.edu	37	11	77412843	77412843	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:77412843G>T	ENST00000308488.6	-	6	1733	c.1431C>A	c.(1429-1431)gaC>gaA	p.D477E	RSF1_ENST00000360355.2_Missense_Mutation_p.D446E|RSF1_ENST00000480887.1_Missense_Mutation_p.D225E			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	8	79	0	59	477					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			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	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)			TGATATTTCTGTCCTTAGAGG	0.398000													1	1	1	1	0	1	0.990455	8	83	0	63	0	0	1	0	0	63	4
TMEM123	114908	broad.mit.edu	37	11	102272784	102272784	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:102272784G>T	ENST00000398136.2	-	3	731	c.311C>A	c.(310-312)tCa>tAa	p.S104*	TMEM123_ENST00000361236.3_Nonsense_Mutation_p.S85*|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000532161.1_Nonsense_Mutation_p.S16*	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	19	180	0	111	104	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	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)		CATATTTGTTGAGACCATCCC	0.438000													1	1	1	1	0	1	0.999996	20	206	0	129	0	9.613125e-01	0	58	0	129	4
ALG9	79796	broad.mit.edu	37	11	111747359	111747359	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:111747359G>C	ENST00000524880.1	-	4	830	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	ALG9_ENST00000527377.1_5'UTR|FDXACB1_ENST00000542429.1_Missense_Mutation_p.Q31E|FDXACB1_ENST00000260257.4_Missense_Mutation_p.Q180E			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	5	47	0	40	0					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			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		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)		GACTTATCTTGACTCCTGGCA	0.388000													1	0	1	1	0	1	0.967951	6	48	0	40	0	1.754386e-02	0	2	0	40	3
PCSK7	9159	broad.mit.edu	37	11	117090319	117090319	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:117090319G>A	ENST00000320934.3	-	10	1941	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	PCSK7_ENST00000540028.1_Silent_p.F78F	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	6	56	0	40	437	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	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)		GGGTGGCTGTGAAGACAATGA	0.592000			T	IGH@	MLCLS								1	0	1	1	0	1	0.967264	6	63	0	45	0	5.438307e-01	0	19	0	45	3
SORL1	6653	broad.mit.edu	37	11	121393333	121393333	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:121393333C>T	ENST00000260197.7	+	10	1572	c.1443C>T	c.(1441-1443)ctC>ctT	p.L481L	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	15	195	0	128	481					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		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)		CTCAGCGCCTCAGTCAGCTCC	0.547000													1	1	1	1	0	1	0.999985	18	207	0	137	0	0	0	1	0	137	4
OR10G7	390265	broad.mit.edu	37	11	123909026	123909026	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:123909026C>T	ENST00000330487.5	-	1	691	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	36	85	0	116	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		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)		CTCTGAGGTGCGGATCCGCAG	0.537000													1	0	1	1	1	1	1.000000	38	91	0	117	0	0	0	0	0	117	4
IGSF9B	22997	broad.mit.edu	37	11	133789788	133789788	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr11:133789788G>T	ENST00000321016.8	-	18	4062	c.3832C>A	c.(3832-3834)Ctg>Atg	p.L1278M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.L1278M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	5	30	0	39	1278	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	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)		CCGGTGGCCAGAGTGGTGAAG	0.677000													0	0	1	1	0	1	0.942316	5	31	0	40	0	0	0	0	0	40	2
RAD52	5893	broad.mit.edu	37	12	1036411	1036411	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:1036411C>T	ENST00000358495.3	-	6	505	c.367G>A	c.(367-369)Gat>Aat	p.D123N	RAD52_ENST00000536177.1_Missense_Mutation_p.D123N|RAD52_ENST00000545564.1_Missense_Mutation_p.D123N|RAD52_ENST00000430095.2_Missense_Mutation_p.D123N|RAD52_ENST00000539046.1_Missense_Mutation_p.D46N	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	15	238	0	187	123					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	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)			TAACCAACATCTTCATGATAT	0.537000								Homologous recombination					1	1	1	1	0	1	0.999941	16	256	0	206	0	2.219033e-02	1	3	0	206	4
SPSB2	84727	broad.mit.edu	37	12	6981730	6981730	+	Silent	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:6981730G>T	ENST00000519357.1	-	2	522	c.336C>A	c.(334-336)ctC>ctA	p.L112L	SPSB2_ENST00000524270.1_Silent_p.L112L|SPSB2_ENST00000523102.1_Silent_p.L112L			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	9	82	0	65	112	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						GCAGCGGGGCGAGGGCCGTGG	0.687000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	0	1	0.994970	9	86	0	69	1	9.912148e-01	7	77	0	69	4
SLCO1C1	53919	broad.mit.edu	37	12	20905332	20905332	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:20905332C>G	ENST00000266509.2	+	15	2377	c.2009C>G	c.(2008-2010)tCa>tGa	p.S670*	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.F704L|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.F704L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.F586L|SLCO1C1_ENST00000540354.1_Nonsense_Mutation_p.S621*	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	4	36	0	25	670					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AATTATGTTTCAAAACACAGA	0.343000													0	0	1	0	1	1	0.893620	4	38	0	25	0	0	0	0	0	25	2
ASUN	55726	broad.mit.edu	37	12	27066540	27066540	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:27066540C>T	ENST00000261191.7	-	14	2191	c.1655G>A	c.(1654-1656)aGa>aAa	p.R552K	ASUN_ENST00000539625.1_Missense_Mutation_p.R451K	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	18	251	0	175	552					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TTCCAAGACTCTTTGATGTTT	0.433000													1	1	1	1	1	1	0.999992	19	269	0	199	1	9.906818e-01	19	90	0	199	5
HDAC7	51564	broad.mit.edu	37	12	48189070	48189070	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:48189070C>T	ENST00000080059.7	-	11	1180	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	HDAC7_ENST00000427332.2_Missense_Mutation_p.R355Q|HDAC7_ENST00000354334.3_Missense_Mutation_p.R357Q|HDAC7_ENST00000380610.4_Missense_Mutation_p.R411Q|HDAC7_ENST00000552960.1_Missense_Mutation_p.R377Q	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	20	41	0	58	355	Transcription repression 2 (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			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		TGAGCGAGTCCGGCTCAGTGG	0.677000													1	1	1	1	0	1	0.999999	20	42	0	60	1	9.912500e-01	8	12	0	60	4
H1FNT	341567	broad.mit.edu	37	12	48723537	48723537	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:48723537C>T	ENST00000335017.1	+	1	775	c.463C>T	c.(463-465)Cgg>Tgg	p.R155W		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	6	11	0	20	155	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CCGGAGCTCCCGGAGGCGCCG	0.711000													1	0	1	1	0	1	0.987544	7	13	0	20	0	0	0	0	0	20	3
OR6C6	283365	broad.mit.edu	37	12	55688184	55688184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:55688184G>T	ENST00000358433.2	-	1	832	c.833C>A	c.(832-834)tCa>tAa	p.S278*		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	11	63	0	50	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGGGGCAATTGAGGTATAGAG	0.363000													1	0	1	1	1	1	0.999375	12	66	0	52	0	0	0	0	0	52	4
DGKA	1606	broad.mit.edu	37	12	56347166	56347166	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56347166G>T	ENST00000331886.5	+	23	2550	c.2096G>T	c.(2095-2097)gGa>gTa	p.G699V	DGKA_ENST00000394147.1_Missense_Mutation_p.G699V|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.G699V	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	25	372	0	300	699				G -> V (in Ref. 1; CAA44396).	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	p.G699V(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CAAATTGACGGAGAACCCTGG	0.468000													1	1	1	1	0	1	1.000000	29	411	0	336	0	7.124568e-01	0	37	0	336	4
SMARCC2	6601	broad.mit.edu	37	12	56566438	56566438	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56566438C>T	ENST00000394023.3	-	19	1899	c.1794G>A	c.(1792-1794)gaG>gaA	p.E598E	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Silent_p.E598E|SMARCC2_ENST00000550164.1_Silent_p.E598E|SMARCC2_ENST00000267064.4_Silent_p.E567E	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	13	131	0	107	567	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			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTGTTGGTTTCTCTTTGCCTT	0.498000													1	0	1	1	1	1	0.999802	14	138	0	110	1	5.513204e-01	5	14	0	110	4
TIMELESS	8914	broad.mit.edu	37	12	56825346	56825346	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:56825346G>C	ENST00000229201.4	-	8	881	c.727C>G	c.(727-729)Cag>Gag	p.Q243E	TIMELESS_ENST00000553532.1_Missense_Mutation_p.Q244E|TIMELESS_ENST00000554616.1_Missense_Mutation_p.Q244E	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	7	55	0	59	244					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				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTCCGCTCCTGAGCTAAGCGT	0.552000													1	1	1	1	1	1	0.990854	8	60	0	60	0	4.569306e-01	0	12	0	60	5
TRHDE	29953	broad.mit.edu	37	12	72969145	72969145	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:72969145G>C	ENST00000261180.4	+	11	2203	c.2107G>C	c.(2107-2109)Gat>Cat	p.D703H	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	10	46	0	44	703					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATTATTAATTGATCAATTAAT	0.343000													1	1	1	1	1	1	0.997708	10	50	0	47	0	0	0	0	0	47	5
NAV3	89795	broad.mit.edu	37	12	78400500	78400500	+	Silent	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:78400500G>T	ENST00000397909.2	+	8	1355	c.1182G>T	c.(1180-1182)cgG>cgT	p.R394R	NAV3_ENST00000266692.7_Silent_p.R394R|NAV3_ENST00000536525.2_Silent_p.R394R|NAV3_ENST00000228327.6_Silent_p.R394R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	10	110	0	79	394						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCAATGCCCGGACTGCTTTAC	0.498000										HNSCC(70;0.22)			1	1	1	1	0	1	0.997261	10	116	0	82	0	0	0	0	0	82	4
METTL25	84190	broad.mit.edu	37	12	82780731	82780731	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:82780731C>G	ENST00000248306.3	+	2	478	c.409C>G	c.(409-411)Caa>Gaa	p.Q137E	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2			methyltransferase like 25	4	78	0	62																		TCGAGGAAATCAAAACCAGAG	0.368000													0	0	1	0	0	1	0.891926	4	89	0	71	1	5.435482e-02	2	5	0	71	1
LRRIQ1	84125	broad.mit.edu	37	12	85450933	85450933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:85450933C>T	ENST00000393217.2	+	8	2423	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	11	149	0	101	788								p.R788*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGAAATTCTTCGATGTGGCCC	0.323000													1	0	1	1	0	1	0.998510	11	157	0	112	0	0	0	0	0	112	3
CRY1	1407	broad.mit.edu	37	12	107398927	107398927	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:107398927C>G	ENST00000008527.5	-	3	1234	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	8	61	0	61	123	DNA photolyase.				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			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ACAATGACTTCTACTCCAGCT	0.348000													1	1	1	1	1	1	0.997507	10	69	0	70	0	0	1	0	0	70	5
HVCN1	84329	broad.mit.edu	37	12	111099146	111099146	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:111099146C>G	ENST00000356742.5	-	3	882	c.129G>C	c.(127-129)aaG>aaC	p.K43N	HVCN1_ENST00000439744.2_Missense_Mutation_p.K23N|HVCN1_ENST00000548312.1_Missense_Mutation_p.K43N|HVCN1_ENST00000242607.8_Missense_Mutation_p.K43N			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	7	65	0	43	43					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						tctccCATTTCTTGTAGTTGA	0.597000													1	1	1	1	0	1	0.982327	7	69	0	44	0	2.373680e-01	1	8	0	44	4
ATXN2	6311	broad.mit.edu	37	12	111963105	111963105	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:111963105G>C	ENST00000377617.3	-	6	1228	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000389153.4_Missense_Mutation_p.S91C|ATXN2_ENST00000550104.1_Missense_Mutation_p.S356C|ATXN2_ENST00000535949.1_Missense_Mutation_p.S67C|ATXN2_ENST00000542287.2_Missense_Mutation_p.S91C	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	7	78	0	45	356					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			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ACTGATAGCAGAGTCAGTAAA	0.428000													1	1	1	1	0	1	0.982055	7	82	0	47	0	0	0	1	0	47	4
MED13L	23389	broad.mit.edu	37	12	116460310	116460310	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:116460310G>A	ENST00000281928.3	-	5	782	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	4	24	0	19	192					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCTCCTCATTGATCAAATAAA	0.463000													0	0	1	0	1	1	0.895102	4	25	0	20	0	0	1	0	0	20	2
P2RX7	5027	broad.mit.edu	37	12	121570869	121570869	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:121570869C>T	ENST00000546057.1	+	1	239	c.96C>T	c.(94-96)ttC>ttT	p.F32F	P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000377162.2_Silent_p.F32F|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000541446.1_5'UTR	NM_002562.5	NP_002553.3	A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	10	139	0	99	32						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTAAGTGGTTCTTCCACGTGA	0.527000													1	1	1	1	0	1	0.997173	10	149	0	106	0	0	0	0	0	106	4
CCDC92	80212	broad.mit.edu	37	12	124422324	124422324	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:124422324C>T	ENST00000545135.1	-	3	3522	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	CCDC92_ENST00000238156.3_Missense_Mutation_p.A93T|CCDC92_ENST00000545891.1_Missense_Mutation_p.A76T|CCDC92_ENST00000544798.1_Intron			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	10	156	0	115	93										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TTCAGTTGGGCTTCCAGCTCT	0.443000													1	1	1	1	0	1	0.997151	10	160	0	120	1	6.515761e-01	2	34	0	120	4
ANKLE2	23141	broad.mit.edu	37	12	133331678	133331678	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr12:133331678G>C	ENST00000539605.1	-	1	6721	c.37C>G	c.(37-39)Ctg>Gtg	p.L13V	ANKLE2_ENST00000337516.5_Missense_Mutation_p.L75V|ANKLE2_ENST00000357997.5_Missense_Mutation_p.L75V			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	10	97	0	69	75						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	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)		TCTGGATTCAGAAGTTTCAAT	0.403000													1	1	1	1	0	1	0.997301	10	105	0	75	0	1.392620e-01	1	6	0	75	4
C1QTNF9	338872	broad.mit.edu	37	13	24895247	24895247	+	Nonsense_Mutation	SNP	C	C	T	rs140002881		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr13:24895247C>T	ENST00000382071.2	+	4	428	c.343C>T	c.(343-345)Cga>Tga	p.R115*	C1QTNF9_ENST00000332018.4_Nonsense_Mutation_p.R115*|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	17	50	0	52	115	Collagen-like 2.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		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)		GAAGGGCCTCCGAGGAGAGAC	0.602000													1	0	1	1	0	1	0.999986	17	52	0	50	1	3.671233e-01	5	0	0	50	3
LECT1	11061	broad.mit.edu	37	13	53282685	53282685	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr13:53282685C>T	ENST00000448904.2	-	6	885	c.775G>A	c.(775-777)Gat>Aat	p.D259N	LECT1_ENST00000377962.3_Missense_Mutation_p.D259N	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	4	25	0	30	259					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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)		TAAGGATTATCAGGATTGAAG	0.483000													1	0	1	1	1	1	0.942955	5	27	0	30	0	0	0	0	0	30	4
SLITRK5	26050	broad.mit.edu	37	13	88328522	88328522	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr13:88328522G>C	ENST00000325089.6	+	2	1098	c.879G>C	c.(877-879)gaG>gaC	p.E293D	SLITRK5_ENST00000400028.3_Missense_Mutation_p.E52D	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	15	95	0	117	293						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTGACTACGAGATGAGGCCGC	0.537000													1	1	1	1	1	1	0.999955	16	103	0	124	0	0	0	0	0	124	5
OR4K5	79317	broad.mit.edu	37	14	20389101	20389101	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:20389101G>T	ENST00000315915.4	+	1	361	c.336G>T	c.(334-336)atG>atT	p.M112I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	11	252	0	291	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GAGGGGAGATGGTGCTACTTG	0.428000													1	1	1	1	0	1	0.999567	13	266	0	302	0	0	0	0	0	302	4
FAM179B	23116	broad.mit.edu	37	14	45432775	45432775	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:45432775C>G	ENST00000361462.2	+	1	1334	c.1151C>G	c.(1150-1152)cCt>cGt	p.P384R	FAM179B_ENST00000382233.2_Missense_Mutation_p.P384R|FAM179B_ENST00000361577.3_Missense_Mutation_p.P384R			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	4	65	0	64	384							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAATTTAACCCTAGTTCTACT	0.423000													0	1	1	0	0	1	0.892398	4	65	0	65	0	0	0	0	0	65	2
FANCM	57697	broad.mit.edu	37	14	45642401	45642401	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:45642401G>A	ENST00000267430.5	+	13	2389	c.2304G>A	c.(2302-2304)atG>atA	p.M768I	FANCM_ENST00000542564.2_Missense_Mutation_p.M742I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	6	47	0	73	768					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAGAGGGAATGAGACACGAAG	0.373000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				1	0	1	1	1	1	0.967542	6	56	0	86	0	0	0	0	0	86	4
FANCM	57697	broad.mit.edu	37	14	45665636	45665636	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:45665636C>G	ENST00000267430.5	+	21	5687	c.5602C>G	c.(5602-5604)Caa>Gaa	p.Q1868E	FANCM_ENST00000542564.2_Missense_Mutation_p.Q1842E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	8	66	0	80	1868	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			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGGAGGTCTCAATCTGAGAT	0.403000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				1	1	1	1	1	1	0.990652	8	70	0	85	0	1.388889e-02	0	2	0	85	5
PELI2	57161	broad.mit.edu	37	14	56763378	56763378	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:56763378C>G	ENST00000267460.4	+	6	1043	c.757C>G	c.(757-759)Ctc>Gtc	p.L253V		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	7	49	0	71	253					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			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TGGGGCCACTCTCCTCTGGAG	0.522000													1	1	0	1	1	1	0.982748	7	55	0	77	0	0	0	0	0	77	4
ALDH6A1	4329	broad.mit.edu	37	14	74534271	74534271	+	Splice_Site	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:74534271C>A	ENST00000553458.1	-	8	952	c.852_splice	c.e8-1	p.G285_splice	ALDH6A1_ENST00000555126.1_Splice_Site_p.G2_splice|CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Splice_Site_p.G272_splice|AC005484.5_ENST00000492026.1_RNA	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	4	31	0	44	285						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GTTCTTGGCTCCCTAAAAAAA	0.478000													0	0	1	1	0	1	0.893620	4	37	0	47	0	4.084321e-02	0	3	0	47	2
VSX2	338917	broad.mit.edu	37	14	74707950	74707950	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:74707950C>T	ENST00000261980.2	+	2	526	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	7	50	0	62	146					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GACCAAGAAACGGAAGAAGCG	0.587000													1	1	1	1	1	1	0.990927	8	57	0	67	0	0	0	0	0	67	5
TECPR2	9895	broad.mit.edu	37	14	102906847	102906847	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr14:102906847C>T	ENST00000359520.7	+	11	2879	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W	TECPR2_ENST00000558678.1_Missense_Mutation_p.R885W	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	11	80	0	81	885							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CAAGGGGAAGCGGCACTGGTA	0.517000													1	0	1	1	1	1	0.998665	11	85	0	84	0	1.607916e-02	0	2	0	84	4
AVEN	57099	broad.mit.edu	37	15	34159950	34159950	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:34159950G>A	ENST00000306730.3	-	5	848	c.719C>T	c.(718-720)cCc>cTc	p.P240L		NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	6	84	0	85	240					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		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)		CTCAAAGATGGGCCCCCTTCC	0.547000													1	1	1	1	1	1	0.966522	6	93	0	91	1	6.494902e-01	3	31	0	91	5
SPG11	80208	broad.mit.edu	37	15	44876090	44876090	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:44876090C>T	ENST00000261866.7	-	30	5804	c.5788G>A	c.(5788-5790)Gag>Aag	p.E1930K	SPG11_ENST00000427534.2_Missense_Mutation_p.E1930K|SPG11_ENST00000535302.2_Missense_Mutation_p.E1930K|SPG11_ENST00000558319.1_Missense_Mutation_p.E1930K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	27	70	0	57	1930					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		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)		GCATGGATCTCTGGGTGCAGA	0.498000													1	1	1	1	1	1	1.000000	29	75	0	62	1	9.978904e-01	6	22	0	62	5
DUOX1	53905	broad.mit.edu	37	15	45455856	45455856	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:45455856G>A	ENST00000321429.4	+	33	4782	c.4375G>A	c.(4375-4377)Gag>Aag	p.E1459K	DUOX1_ENST00000389037.3_Missense_Mutation_p.E1459K|DUOX1_ENST00000561166.1_Missense_Mutation_p.E1105K|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	11	149	0	133	1459					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			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		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)		CCAGCTGGCTGAGAAGTTCGA	0.577000											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	0	1	0.999224	12	160	0	147	0	0	0	0	0	147	4
SEMA6D	80031	broad.mit.edu	37	15	48058076	48058076	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:48058076G>A	ENST00000316364.5	+	14	1877	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	SEMA6D_ENST00000355997.3_Missense_Mutation_p.E480K|SEMA6D_ENST00000558014.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000536845.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000354744.4_Missense_Mutation_p.E480K|SEMA6D_ENST00000389432.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000389433.2_Missense_Mutation_p.E480K|SEMA6D_ENST00000358066.4_Missense_Mutation_p.E480K|SEMA6D_ENST00000558816.1_Missense_Mutation_p.E480K|SEMA6D_ENST00000389428.3_Missense_Mutation_p.E480K|SEMA6D_ENST00000537942.1_Missense_Mutation_p.E480K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	13	81	0	53	480	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		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)		GTGCAGTGCTGAGAATGAGGA	0.423000													1	0	1	1	1	1	0.999655	13	88	0	56	0	0	0	0	0	56	4
GNB5	0	broad.mit.edu	37	15	52416726	52416726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:52416726G>A	ENST00000261837.7	-	12	1185	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000396335.4_Nonsense_Mutation_p.R262*|GNB5_ENST00000358784.7_Nonsense_Mutation_p.R332*	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	7	121	0	79	374						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GGGGAAACTCGTAGAGTGCTA	0.488000													1	0	1	1	0	1	0.990073	8	126	0	85	0	4.108961e-02	1	4	0	85	3
MYO5C	55930	broad.mit.edu	37	15	52511996	52511996	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:52511996G>C	ENST00000261839.7	-	31	3906	c.3745C>G	c.(3745-3747)Cag>Gag	p.Q1249E		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	9	19	0	10	1249						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CGATGTAACTGATTAGACAAT	0.378000													0	1	1	1	1	1	0.998461	10	20	0	11	0	0	0	0	0	11	4
RNF111	54778	broad.mit.edu	37	15	59373350	59373350	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:59373350C>A	ENST00000348370.4	+	8	2597	c.2164C>A	c.(2164-2166)Cag>Aag	p.Q722K	RNF111_ENST00000434298.1_Missense_Mutation_p.Q722K|RNF111_ENST00000561186.1_Missense_Mutation_p.Q722K|RNF111_ENST00000557998.1_Missense_Mutation_p.Q722K|RNF111_ENST00000559209.1_Missense_Mutation_p.Q722K	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	16	116	0	125	722	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q722*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ACCAATCCCTCAGCATCTTCC	0.502000													1	1	1	1	1	1	0.999950	16	130	0	136	0	3.811355e-02	1	2	0	136	5
HDGFRP3	0	broad.mit.edu	37	15	83826306	83826306	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:83826306G>A	ENST00000299633.4	-	4	923	c.320C>T	c.(319-321)tCt>tTt	p.S107F		NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		6	22	0	29	107					cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AGTTTCTGAAGAGCTCTGTTG	0.348000													1	0	1	1	0	1	0.970533	6	24	0	30	1	9.161374e-01	6	15	0	30	3
TICRR	90381	broad.mit.edu	37	15	90167617	90167617	+	Nonsense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr15:90167617C>G	ENST00000268138.7	+	20	4181	c.4076C>G	c.(4075-4077)tCa>tGa	p.S1359*	KIF7_ENST00000558928.1_Intron|TICRR_ENST00000560985.1_Nonsense_Mutation_p.S1358*					TOPBP1-interacting checkpoint and replication regulator	16	110	0	144																		CCTGTTCCCTCAACTCCCCCT	0.527000													1	1	1	1	1	1	0.999976	17	119	0	158	0	1.782921e-02	1	1	0	158	5
CACNA1H	8912	broad.mit.edu	37	16	1261782	1261782	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:1261782G>C	ENST00000348261.5	+	24	4791	c.4543G>C	c.(4543-4545)Gat>Cat	p.D1515H	CACNA1H_ENST00000565831.1_Missense_Mutation_p.D1515H|CACNA1H_ENST00000358590.4_Missense_Mutation_p.D1515H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	8	73	0	94	1515					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(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGACGGGCTGGATGCCGTGGG	0.662000													1	0	1	1	0	1	0.994914	9	93	0	103	0	0	0	0	0	103	3
CPNE2	221184	broad.mit.edu	37	16	57180017	57180017	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:57180017C>T	ENST00000535318.2	+	16	1684	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	CPNE2_ENST00000290776.8_Silent_p.I441I|CPNE2_ENST00000565874.1_Silent_p.I441I|CPNE2_ENST00000537605.1_Silent_p.I339I|CPNE2_ENST00000565951.1_3'UTR			Q96FN4	CPNE2_HUMAN	copine II	3	15	0	8	441	VWFA.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TCCTCCTCATCATCACGGACG	0.612000													0	0	1	0	0	1	0.813268	3	15	0	10	1	9.827065e-01	7	44	0	10	1
COG4	25839	broad.mit.edu	37	16	70548413	70548413	+	Splice_Site	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:70548413C>T	ENST00000323786.5	-	4	391		c.e4-1		COG4_ENST00000564653.1_Splice_Site|COG4_ENST00000393612.4_Splice_Site	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	6	19	0	21						Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AGAGGCGGTTCTGCAAAAAGA	0.433000													0	1	1	0	0	1	0.985917	7	19	0	21	0	7.838682e-01	0	10	0	21	2
VAT1L	57687	broad.mit.edu	37	16	77859228	77859228	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:77859228C>T	ENST00000302536.2	+	3	602	c.449C>T	c.(448-450)cCg>cTg	p.P150L		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	14	28	0	34	150							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TACAAGATCCCGGATGACATG	0.522000													1	1	1	1	1	1	0.999908	14	31	0	37	0	0	0	0	0	37	5
CTU2	348180	broad.mit.edu	37	16	88780614	88780614	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr16:88780614C>T	ENST00000567949.1	+	10	1298	c.1289C>T	c.(1288-1290)tCc>tTc	p.S430F	CTU2_ENST00000378384.3_Missense_Mutation_p.S272F|CTU2_ENST00000312060.5_Missense_Mutation_p.S359F|CTU2_ENST00000453996.2_Missense_Mutation_p.S359F			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	8	58	0	74	359					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						CAGTTCCCCTCCACTGTCAGC	0.627000													1	1	1	1	1	1	0.990878	8	59	0	74	1	8.261266e-01	7	19	0	74	5
PRPF8	10594	broad.mit.edu	37	17	1563262	1563262	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:1563262C>G	ENST00000572621.1	-	30	5084	c.4819G>C	c.(4819-4821)Gag>Cag	p.E1607Q	PRPF8_ENST00000304992.6_Missense_Mutation_p.E1607Q			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	6	73	0	62	1607						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTACTGTCTCAATTTCCAGT	0.403000													1	1	1	1	1	1	0.982073	7	81	0	67	1	8.221652e-01	5	34	0	67	5
MNT	4335	broad.mit.edu	37	17	2303970	2303970	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:2303970G>A	ENST00000174618.4	-	1	442	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L		NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	9	3	0	22	13					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			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		TGCCATTCCAGGAAGCGGGCC	0.731000													1	0	1	1	0	1	0.998974	9	4	0	26	0	0	0	0	0	26	3
KIAA0753	9851	broad.mit.edu	37	17	6499537	6499537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:6499537C>A	ENST00000361413.3	-	15	2657	c.2299G>T	c.(2299-2301)Gag>Tag	p.E767*	KIAA0753_ENST00000572370.1_Nonsense_Mutation_p.E468*|KIAA0753_ENST00000542606.1_Nonsense_Mutation_p.E468*|KIAA0753_ENST00000589033.1_Nonsense_Mutation_p.E223*|KIAA0753_ENST00000575027.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	18	135	0	94	767						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTGCTGTCCTCAACGGTGGCT	0.522000													1	1	1	1	1	1	0.999994	19	140	0	101	0	2.624274e-01	1	7	0	101	5
KIAA0753	9851	broad.mit.edu	37	17	6502580	6502580	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:6502580C>G	ENST00000361413.3	-	14	2507	c.2149G>C	c.(2149-2151)Gcg>Ccg	p.A717P	KIAA0753_ENST00000572370.1_Missense_Mutation_p.A418P|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A418P|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A173P|KIAA0753_ENST00000575027.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	5	38	0	28	717						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGGGCTTTCGCTGTGTTTACT	0.358000													1	1	1	1	1	1	0.968505	6	40	0	30	0	6.285714e-02	0	3	0	30	5
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	5	22	0	42	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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 -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	0.970736	6	23	0	43	1	9.995613e-01	17	61	0	43	4
TP53	7157	broad.mit.edu	37	17	7578534	7578534	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7578534C>A	ENST00000420246.2	-	5	528	c.396G>T	c.(394-396)aaG>aaT	p.K132N	TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	25	32	0	39	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.562000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	26	33	0	46	1	9.999982e-01	21	16	0	46	5
DNAH2	146754	broad.mit.edu	37	17	7660535	7660535	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7660535C>T	ENST00000572933.1	+	13	3491	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	DNAH2_ENST00000389173.2_Silent_p.L677L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	27	227	0	201	677	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCTGCTACTCGTTGCTAGAG	0.493000													1	1	1	1	0	1	1.000000	28	253	0	219	0	0	0	0	0	219	4
KDM6B	23135	broad.mit.edu	37	17	7748879	7748879	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:7748879C>T	ENST00000254846.5	+	4	396	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	KDM6B_ENST00000448097.2_Missense_Mutation_p.R3W	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	10	108	0	97	3					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)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGGATGCATCGGGCAGTGGA	0.637000													1	1	1	1	0	1	0.999262	12	121	0	114	0	0	0	1	0	114	4
MYH4	4622	broad.mit.edu	37	17	10363565	10363565	+	Silent	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:10363565G>C	ENST00000255381.2	-	13	1331	c.1221C>G	c.(1219-1221)gtC>gtG	p.V407V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	5	80	0	66	407	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	p.V407V(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCCGACCTTGACTCTGGGAT	0.453000													1	1	1	1	0	1	0.966734	6	82	0	76	0	0	0	0	0	76	4
UNC119	9094	broad.mit.edu	37	17	26874818	26874818	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:26874818C>T	ENST00000484980.1	-	3	3363	c.202G>A	c.(202-204)Gag>Aag	p.E68K	UNC119_ENST00000470125.1_Missense_Mutation_p.E68K|UNC119_ENST00000335765.4_Missense_Mutation_p.E163K|UNC119_ENST00000301032.4_Missense_Mutation_p.E163K			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	17	119	0	113	163					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					TAGTGCCTCTCGATCATGCGG	0.517000											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999975	17	137	0	124	1	9.999643e-01	18	130	0	124	5
SGK494	0	broad.mit.edu	37	17	26939325	26939325	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:26939325C>G	ENST00000301037.5	-	6	606	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	RP11-192H23.4_ENST00000534850.1_Intron|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA	NM_001174103.1	NP_001167574.1				7	62	0	61																		ATGGAAGCCTCAGGAAAGCAG	0.498000													1	1	1	1	1	1	0.990726	8	66	0	68	0	1.537936e-02	0	2	0	68	5
PEX12	5193	broad.mit.edu	37	17	33904942	33904942	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:33904942C>T	ENST00000225873.4	-	1	706	c.99G>A	c.(97-99)gtG>gtA	p.V33V		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	11	83	0	80	33					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGCGGGTCTCACTGCTGTCA	0.463000													1	1	1	1	1	1	0.999306	12	93	0	91	0	1.626133e-01	0	6	0	91	5
ACACA	31	broad.mit.edu	37	17	35640260	35640260	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:35640260G>C	ENST00000353139.5	-	5	999	c.518C>G	c.(517-519)tCt>tGt	p.S173C	ACACA_ENST00000335166.5_Missense_Mutation_p.S58C|ACACA_ENST00000394406.2_Missense_Mutation_p.S136C|ACACA_ENST00000360679.3_Missense_Mutation_p.S78C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	7	57	0	25	136	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			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTACGGATAGACCGCATGCA	0.438000													1	1	1	1	1	1	0.982487	7	63	0	27	0	0	1	0	0	27	5
EIF1	10209	broad.mit.edu	37	17	39846029	39846029	+	Splice_Site	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:39846029G>C	ENST00000469257.1	+	2	177		c.e2-1		EIF1_ENST00000591776.1_Splice_Site|JUP_ENST00000540235.1_Intron|EIF1_ENST00000310837.4_Intron			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1	5	55	0	34						regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTTTTTTTCAGACCCCTTTGC	0.483000											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	0	1	0.940188	5	58	0	37	1	9.999961e-01	2	18	0	37	4
TMUB2	79089	broad.mit.edu	37	17	42266526	42266526	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:42266526G>A	ENST00000319511.6	+	2	762	c.112G>A	c.(112-114)Gta>Ata	p.V38I	TMUB2_ENST00000538716.2_Missense_Mutation_p.V58I|TMUB2_ENST00000592825.1_Missense_Mutation_p.V38I|TMUB2_ENST00000587172.1_Missense_Mutation_p.V38I|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000590235.1_Missense_Mutation_p.V38I|TMUB2_ENST00000589785.1_Missense_Mutation_p.V38I|TMUB2_ENST00000589856.1_Missense_Mutation_p.V38I|TMUB2_ENST00000587989.1_Missense_Mutation_p.V58I|TMUB2_ENST00000446571.3_Missense_Mutation_p.V38I|TMUB2_ENST00000357984.3_Missense_Mutation_p.V38I	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	16	133	0	97	58						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTCTACCTACGTAGCAGACAG	0.587000													1	1	1	1	1	1	0.999994	19	139	0	102	1	7.611996e-01	2	20	0	102	5
GRN	2896	broad.mit.edu	37	17	42429011	42429011	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:42429011C>T	ENST00000053867.3	+	10	1089	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S	GRN_ENST00000589265.1_Missense_Mutation_p.P186S|GRN_ENST00000589923.1_3'UTR	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	34	67	0	65	343					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCACCAGGTGCCCTGGATGGA	0.607000													1	1	1	1	1	1	1.000000	36	70	0	67	1	1	291	777	0	67	5
CDK5RAP3	80279	broad.mit.edu	37	17	46053347	46053347	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:46053347G>A	ENST00000536708.2	+	8	950	c.841G>A	c.(841-843)Gag>Aag	p.E281K	CDK5RAP3_ENST00000338399.4_Missense_Mutation_p.E256K	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	10	70	0	58	256					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						ACCCCACCTCGAGGAGCTTCC	0.607000													1	1	1	1	1	1	0.998697	11	77	0	61	1	9.999896e-01	16	161	0	61	5
RNF43	54894	broad.mit.edu	37	17	56492817	56492817	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:56492817G>A	ENST00000584437.1	-	1	2077	c.122C>T	c.(121-123)tCa>tTa	p.S41L	RNF43_ENST00000583753.1_Missense_Mutation_p.S41L|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Missense_Mutation_p.S41L|RNF43_ENST00000577716.1_Missense_Mutation_p.S41L|RNF43_ENST00000407977.2_Missense_Mutation_p.S41L			Q68DV7	RNF43_HUMAN	ring finger protein 43	6	75	0	51	41						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.S41*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGTTCTGCTGATCTTTCAGA	0.537000													1	0	1	1	0	1	0.982037	7	83	0	57	0	2.345498e-02	0	3	0	57	3
TEX2	55852	broad.mit.edu	37	17	62291464	62291464	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:62291464G>A	ENST00000258991.3	-	2	198	c.114C>T	c.(112-114)ttC>ttT	p.F38F	TEX2_ENST00000584379.1_Silent_p.F38F|TEX2_ENST00000583097.1_Silent_p.F38F			Q8IWB9	TEX2_HUMAN	testis expressed 2	10	84	0	82	38					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CGGATGCCGAGAAGTGAATGG	0.562000													1	1	1	1	1	1	0.997386	10	87	0	83	0	0	0	0	0	83	5
PRKAR1A	5573	broad.mit.edu	37	17	66526119	66526119	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:66526119G>T	ENST00000589228.1	+	10	1078	c.950G>T	c.(949-951)aGa>aTa	p.R317I	PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R317I|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R317I|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.R317I|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R317I|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R317I	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	11	88	0	85	317					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)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GAAGTGGGAAGATTGGGGCCT	0.383000			T, Mis, N, F, S	RET	papillary thyroid	myxoma, endocrine, papillary thyroid			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				1	1	1	1	1	1	0.999645	13	97	0	95	1	9.640530e-01	7	38	0	95	5
MRPS7	51081	broad.mit.edu	37	17	73259478	73259478	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr17:73259478G>A	ENST00000579761.1	+	4	624	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	MRPS7_ENST00000245539.6_Missense_Mutation_p.E133K|MRPS7_ENST00000579002.1_Missense_Mutation_p.E162K			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	48	425	1	365	133					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	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)			TTCTGCAGAGGAACAGGCAAC	0.522000													1	0	1	1	1	1	1.000000	51	441	1	384	1	9.999992e-01	37	221	1	384	4
PTPRM	5797	broad.mit.edu	37	18	8406128	8406128	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:8406128G>A	ENST00000332175.8	+	31	5364	c.4327G>A	c.(4327-4329)Gag>Aag	p.E1443K	PTPRM_ENST00000444013.1_Missense_Mutation_p.E1230K|PTPRM_ENST00000400053.4_Missense_Mutation_p.E1381K|PTPRM_ENST00000400060.4_Missense_Mutation_p.E1457K|PTPRM_ENST00000580170.1_Missense_Mutation_p.E1456K	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	5	42	0	42	1443	Tyrosine-protein phosphatase 2.				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			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GTTCTGCTACGAGGTGGCCCT	0.453000													1	0	1	1	1	1	0.968073	6	46	0	49	1	4.166742e-01	2	9	0	49	4
KCTD1	284252	broad.mit.edu	37	18	24081165	24081165	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:24081165G>C	ENST00000417602.1	-	2	1858	c.1859C>G	c.(1858-1860)tCt>tGt	p.S620C	KCTD1_ENST00000408011.3_Missense_Mutation_p.S12C|KCTD1_ENST00000317932.7_Missense_Mutation_p.S12C|KCTD1_ENST00000579973.1_Missense_Mutation_p.S12C|KCTD1_ENST00000580059.1_Missense_Mutation_p.S12C	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	6	114	0	109	12					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			GTTCAGTGGAGATGCAGGGGA	0.478000													1	0	1	1	0	1	0.966070	6	129	0	126	0	5.012921e-02	0	7	0	126	3
DCC	1630	broad.mit.edu	37	18	50936947	50936947	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:50936947C>G	ENST00000442544.2	+	20	3677	c.3061C>G	c.(3061-3063)Cga>Gga	p.R1021G	DCC_ENST00000412726.1_Missense_Mutation_p.R849G|DCC_ENST00000581580.1_Missense_Mutation_p.R656G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	8	58	0	62	1021	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTATTACTTTCGAATTCAAGC	0.378000													1	1	1	1	1	1	0.995241	9	62	0	68	0	0	0	0	0	68	5
SERPINB7	8710	broad.mit.edu	37	18	61468144	61468144	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr18:61468144C>T	ENST00000398019.2	+	7	967	c.642C>T	c.(640-642)ttC>ttT	p.F214F	SERPINB7_ENST00000546027.1_Silent_p.F214F|SERPINB7_ENST00000336429.2_Silent_p.F214F|SERPINB7_ENST00000540675.1_Silent_p.F197F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	10	73	0	72	214					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AACGGAAGTTCAATTTGTCTG	0.408000													1	1	1	1	1	1	0.997461	10	75	0	79	0	0	0	0	0	79	5
C19orf26	255057	broad.mit.edu	37	19	1234625	1234625	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:1234625G>C	ENST00000590083.1	-	6	864	c.572C>G	c.(571-573)tCa>tGa	p.S191*	C19orf26_ENST00000382477.2_Nonsense_Mutation_p.S211*|C19orf26_ENST00000215376.6_Nonsense_Mutation_p.S185*			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	8	11	0	14	211						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		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)		CGTGGTGGCTGAGCTGGCCTC	0.672000										HNSCC(14;0.022)			0	1	1	1	1	1	0.994442	8	12	0	14	0	3.705534e-01	0	3	0	14	4
APC2	10297	broad.mit.edu	37	19	1460850	1460850	+	Silent	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:1460850C>G	ENST00000535453.1	+	11	3228	c.1515C>G	c.(1513-1515)ctC>ctG	p.L505L	APC2_ENST00000238483.4_Silent_p.L231L|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Silent_p.L505L			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	8	38	0	37	505					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)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		GTGAGGAGCTCCACCAGGTAC	0.697000													1	1	1	1	1	1	0.991601	8	38	0	40	0	1.681873e-01	1	3	0	40	5
ATP8B3	148229	broad.mit.edu	37	19	1796753	1796753	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:1796753G>C	ENST00000539485.1	-	16	1943	c.1710C>G	c.(1708-1710)atC>atG	p.I570M	ATP8B3_ENST00000525591.1_Missense_Mutation_p.I523M|ATP8B3_ENST00000310127.6_Missense_Mutation_p.I570M			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	7	32	0	41	570					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		CCGTGTGGCAGATGGCCAGCA	0.716000													1	1	1	1	1	1	0.991760	8	35	0	45	0	0	0	0	0	45	5
PLEKHJ1	55111	broad.mit.edu	37	19	2233840	2233840	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:2233840C>T	ENST00000589097.1	-	7	1562	c.449G>A	c.(448-450)tGa>tAa	p.*150*	PLEKHJ1_ENST00000587394.1_Intron|PLEKHJ1_ENST00000586608.1_Silent_p.*151*|PLEKHJ1_ENST00000326631.2_Silent_p.*150*|PLEKHJ1_ENST00000587962.1_3'UTR|PLEKHJ1_ENST00000589791.1_5'UTR|PLEKHJ1_ENST00000591099.1_3'UTR|PLEKHJ1_ENST00000588545.1_Silent_p.*131*			Q9NW61	PKHJ1_HUMAN	pleckstrin homology domain containing, family J member 1	4	20	0	26	0							protein binding			endometrium(1)|kidney(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)		GCCCTGCGCTCACGCCTGCAA	0.637000													0	0	1	0	0	1	0.895470	4	23	0	26	1	9.999964e-01	87	340	0	26	1
PKN1	5585	broad.mit.edu	37	19	14578566	14578566	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:14578566C>G	ENST00000242783.6	+	14	2010	c.1845C>G	c.(1843-1845)ttC>ttG	p.F615L	PKN1_ENST00000342216.4_Missense_Mutation_p.F621L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	7	74	0	82	615	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TCGAAGATTTCAAGTTCCTGG	0.632000													1	1	1	1	1	1	0.982073	7	81	0	95	1	9.999922e-01	63	331	0	95	5
TECR	9524	broad.mit.edu	37	19	14675027	14675027	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:14675027C>G	ENST00000436007.2	+	8	586	c.462C>G	c.(460-462)atC>atG	p.I154M	TECR_ENST00000600083.1_5'UTR|TECR_ENST00000215567.5_Missense_Mutation_p.I139M|TECR_ENST00000596073.1_5'UTR			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	15	94	0	86	139					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			endometrium(1)|large_intestine(1)|ovary(1)	3						TCCACTACATCAAGCGCCTGC	0.627000													1	1	1	1	1	1	0.999954	16	105	0	93	1	1	74	405	0	93	5
UBA2	10054	broad.mit.edu	37	19	34960012	34960012	+	Silent	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:34960012C>A	ENST00000439527.2	+	17	2019	c.1521C>A	c.(1519-1521)gtC>gtA	p.V507V	UBA2_ENST00000588585.1_3'UTR|UBA2_ENST00000246548.4_Silent_p.V603V|UBA2_ENST00000592791.1_Silent_p.V129V			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	4	35	0	24	603					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATGCCGACGTCAGTGAAGAAG	0.393000													0	0	1	0	1	1	0.941810	5	35	0	23	1	9.998688e-01	81	111	0	23	2
ZFP82	284406	broad.mit.edu	37	19	36896496	36896496	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:36896496C>T	ENST00000392161.3	-	4	457	c.215G>A	c.(214-216)aGa>aAa	p.R72K	ZFP82_ENST00000392171.1_Intron	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	7	38	0	30	72	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATATTGTCTTCTTCCTTTCCT	0.438000													1	0	1	1	1	1	0.995652	9	42	0	31	0	0	0	1	0	31	4
FCGBP	8857	broad.mit.edu	37	19	40395956	40395956	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:40395956G>C	ENST00000221347.6	-	15	7448	c.7441C>G	c.(7441-7443)Cag>Gag	p.Q2481E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	29	311	0	291	2481	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	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)			CCGCAGGTCTGAGCCAGCACA	0.642000													1	0	1	1	0	1	1.000000	30	321	0	265	0	0	1	0	0	265	3
PLD3	0	broad.mit.edu	37	19	40882619	40882619	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:40882619C>T	ENST00000409587.1	+	11	1520	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	PLD3_ENST00000409281.1_Missense_Mutation_p.R375W|PLD3_ENST00000356508.5_Missense_Mutation_p.R375W|PLD3_ENST00000409735.4_Missense_Mutation_p.R375W|PLD3_ENST00000409419.1_Missense_Mutation_p.R375W			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	15	73	0	62	375					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCATCCATGCGGGCCTTCCT	0.647000													1	1	1	1	1	1	0.999961	16	78	0	65	1	1	57	754	0	65	5
PSG8	0	broad.mit.edu	37	19	43268424	43268424	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:43268424A>G	ENST00000404209.4	-	2	170	c.74T>C	c.(73-75)tTa>tCa	p.L25S	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.L25S|PSG8_ENST00000306511.4_Missense_Mutation_p.L25S	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	11	145	0	156	25						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCAGAAGTTTAAAAGTGATGC	0.478000													1	1	1	1	0	1	0.999228	12	154	0	161	0	0	0	0	0	161	4
ZNF227	7770	broad.mit.edu	37	19	44740795	44740795	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:44740795C>T	ENST00000313040.7	+	6	2417	c.2212C>T	c.(2212-2214)Cac>Tac	p.H738Y	ZNF227_ENST00000589005.1_Missense_Mutation_p.H687Y|ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000391961.2_Missense_Mutation_p.H687Y	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	5	96	0	91	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CCTGGGTGTTCACACCAGGGA	0.498000													0	0	1	0	0	1	0.939033	5	104	0	101	1	2.554929e-01	2	16	0	101	1
ZNF296	162979	broad.mit.edu	37	19	45575710	45575710	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:45575710C>T	ENST00000303809.2	-	3	791	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	4	71	0	59	193					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						AGCGGGGCCTCCGGGGCCTCT	0.682000													0	0	1	0	0	1	0.939630	5	74	0	60	1	4.908411e-01	2	21	0	60	1
SYMPK	8189	broad.mit.edu	37	19	46332275	46332275	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:46332275G>A	ENST00000245934.7	-	14	2182	c.1938C>T	c.(1936-1938)ctC>ctT	p.L646L		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	13	86	0	82	646					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ACAGGCGGATGAGGCAGTCCT	0.652000													1	1	1	1	1	1	0.999824	14	94	0	84	1	9.999029e-01	21	93	0	84	5
NOSIP	0	broad.mit.edu	37	19	50059940	50059940	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:50059940C>T	ENST00000391853.3	-	8	742	c.591G>A	c.(589-591)ctG>ctA	p.L197L	NOSIP_ENST00000339093.3_Silent_p.L200L|NOSIP_ENST00000596358.1_Silent_p.L197L	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	3	22	0	20	197					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		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)		GCACGGGCGTCAGGTCCGACA	0.687000													0	0	0	0	1	1	0.812861	3	23	0	21	1	9.998073e-01	54	237	0	21	1
IL4I1	259307	broad.mit.edu	37	19	50393136	50393136	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:50393136G>A	ENST00000595948.1	-	10	2181	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	IL4I1_ENST00000391826.2_Missense_Mutation_p.R499C|IL4I1_ENST00000341114.3_Missense_Mutation_p.R521C	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	10	30	0	25	499						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		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)		ATGGCGGCGCGCAGCGCCGAC	0.667000													1	0	1	1	0	1	0.998074	10	31	0	28	1	1	22	420	0	28	3
ZNF649	65251	broad.mit.edu	37	19	52394225	52394225	+	Silent	SNP	T	T	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:52394225T>C	ENST00000354957.3	-	5	1448	c.1164A>G	c.(1162-1164)ggA>ggG	p.G388G	ZNF649_ENST00000600738.1_Silent_p.G360G|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	14	85	0	71	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GTCTAATGAGTCCTGACTTCT	0.433000													1	1	1	1	1	1	0.999826	14	90	0	75	1	1.019656e-01	2	2	0	75	5
PPP2R1A	5518	broad.mit.edu	37	19	52714679	52714679	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:52714679C>T	ENST00000322088.6	+	4	495	c.437C>T	c.(436-438)tCg>tTg	p.S146L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S91L|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	11	90	0	108	146	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen 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			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TCCCGCACCTCGGCCTGCGGC	0.652000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	0.999297	12	98	0	122	1	9.999945e-01	59	154	0	122	5
ZNF610	162963	broad.mit.edu	37	19	52869526	52869526	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr19:52869526G>C	ENST00000601151.1	+	5	1218	c.766G>C	c.(766-768)Gag>Cag	p.E256Q	ZNF610_ENST00000403906.3_Missense_Mutation_p.E299Q|ZNF610_ENST00000321287.8_Missense_Mutation_p.E299Q|ZNF610_ENST00000327920.8_Missense_Mutation_p.E299Q	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	7	30	0	38	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGCTTTTAGAGAGTGTTCGGG	0.398000													1	1	1	1	1	1	0.992009	8	31	0	40	1	3.895780e-01	3	3	0	40	5
CPXM1	56265	broad.mit.edu	37	20	2777179	2777179	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:2777179C>T	ENST00000380605.2	-	8	1103	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	32	137	0	117	347					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTACCCAGCTCATGCTCCCCA	0.612000													1	1	1	1	1	1	1.000000	37	152	0	124	0	9.418367e-01	0	22	0	124	5
TASP1	55617	broad.mit.edu	37	20	13463939	13463939	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:13463939G>C	ENST00000337743.4	-	11	1040	c.920C>G	c.(919-921)tCa>tGa	p.S307*	TASP1_ENST00000539805.1_Missense_Mutation_p.H110D|TASP1_ENST00000480436.1_5'UTR	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	9	107	0	83	307					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						TAAAGCATGTGAACATTCTCT	0.418000													1	1	1	1	0	1	0.997245	10	121	0	92	0	1.126781e-01	0	7	0	92	4
SEC23B	10483	broad.mit.edu	37	20	18534978	18534978	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:18534978C>G	ENST00000336714.3	+	18	2524	c.2092C>G	c.(2092-2094)Ctg>Gtg	p.L698V	SEC23B_ENST00000262544.2_Missense_Mutation_p.L698V|SEC23B_ENST00000377465.1_Missense_Mutation_p.L698V|SEC23B_ENST00000377475.3_Missense_Mutation_p.L698V	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	4	97	0	77	698					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			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCAAGAAATTCTGCAAGCACG	0.512000													0	0	1	0	0	1	0.939047	5	103	0	81	1	9.835868e-01	3	164	0	81	1
RIN2	54453	broad.mit.edu	37	20	19956199	19956199	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:19956199G>A	ENST00000255006.6	+	8	1826	c.1677G>A	c.(1675-1677)ccG>ccA	p.P559P	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	16	136	0	134	510					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCATGACCCCGGAGAAGCGGA	0.572000													1	1	1	1	1	1	0.999987	18	149	0	149	1	1.836810e-01	3	4	0	149	5
SYNDIG1	79953	broad.mit.edu	37	20	24523840	24523840	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:24523840G>C	ENST00000376862.3	+	2	740	c.107G>C	c.(106-108)aGa>aCa	p.R36T		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	7	76	0	101	36					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.R36T(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GCCGAGAGCAGAGATGGTCTG	0.562000													1	1	1	1	0	1	0.982055	7	82	0	108	1	1.261476e-01	2	5	0	108	4
EIF2S2	8894	broad.mit.edu	37	20	32677668	32677668	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:32677668G>A	ENST00000374980.2	-	9	1091	c.870C>T	c.(868-870)atC>atT	p.I290I		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	4	81	0	72	290						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CCTTCTGCAGGATTGTGTCCG	0.473000													0	0	1	0	1	1	0.892003	4	84	0	78	1	9.999467e-01	118	670	0	78	2
RALGAPB	57148	broad.mit.edu	37	20	37146598	37146598	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:37146598C>T	ENST00000262879.6	+	9	1656	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	RALGAPB_ENST00000537204.1_Missense_Mutation_p.H458Y|RALGAPB_ENST00000397042.3_Missense_Mutation_p.H458Y|RALGAPB_ENST00000397038.1_Missense_Mutation_p.H236Y|RALGAPB_ENST00000397040.1_Missense_Mutation_p.H458Y			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	9	70	0	62	458					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGCATTTGTTCACTGTAAACT	0.388000													1	1	1	1	1	1	0.998689	11	79	0	70	0	0	0	0	0	70	5
DBNDD2	55861	broad.mit.edu	37	20	44037201	44037201	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:44037201G>C	ENST00000372712.2	+	2	675	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	DBNDD2_ENST00000372723.3_Missense_Mutation_p.E32Q|DBNDD2_ENST00000372722.3_Missense_Mutation_p.E32Q|DBNDD2_ENST00000360981.4_Missense_Mutation_p.E32Q|DBNDD2_ENST00000357275.2_Missense_Mutation_p.E32Q|DBNDD2_ENST00000372720.3_Missense_Mutation_p.E130Q|DBNDD2_ENST00000372717.1_Missense_Mutation_p.E32Q|SYS1-DBNDD2_ENST00000452133.1_3'UTR|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372710.3_Missense_Mutation_p.E134Q			Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	9	87	0	59	130					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				GCCAGAGACAGAGTTTGTCTT	0.567000													1	1	1	1	1	1	0.994914	9	93	0	60	1	9.957618e-01	16	90	0	60	5
EYA2	2139	broad.mit.edu	37	20	45718018	45718018	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:45718018G>C	ENST00000327619.5	+	8	1176	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	EYA2_ENST00000317304.6_Missense_Mutation_p.E268Q|EYA2_ENST00000357410.3_Missense_Mutation_p.E268Q	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	4	63	0	60	268					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			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CAATGAGATTGAGGTAATCCA	0.587000													1	0	1	1	0	1	0.939843	5	67	0	64	0	0	0	0	0	64	3
SULF2	55959	broad.mit.edu	37	20	46293965	46293965	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr20:46293965C>T	ENST00000359930.4	-	14	2826	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	SULF2_ENST00000484875.1_Missense_Mutation_p.E659K|SULF2_ENST00000467815.1_Missense_Mutation_p.E659K|SULF2_ENST00000361612.4_Missense_Mutation_p.E659K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	47	154	0	170	659					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			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CAGTCACATTCTTCTGGCCGC	0.507000													1	1	1	1	1	1	1.000000	52	167	0	182	1	8.479408e-01	2	11	0	182	5
BRWD1	54014	broad.mit.edu	37	21	40636563	40636563	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:40636563C>A	ENST00000342449.3	-	17	1786	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	BRWD1_ENST00000380800.3_Missense_Mutation_p.D570Y|BRWD1_ENST00000333229.2_Missense_Mutation_p.D570Y	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	6	22	0	13	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTATTAGAATCTCTAATAAGT	0.373000													1	1	1	1	1	1	0.985191	7	23	0	15	0	0	0	0	0	15	5
PCNT	5116	broad.mit.edu	37	21	47831205	47831205	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:47831205G>C	ENST00000359568.5	+	28	5325	c.5218G>C	c.(5218-5220)Gaa>Caa	p.E1740Q	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	14	95	0	128	1740					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAGGAAATTGAACAACTCCA	0.468000													1	1	1	1	1	1	0.999817	14	105	0	139	0	1.625796e-02	0	2	0	139	5
PCNT	5116	broad.mit.edu	37	21	47831535	47831535	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:47831535G>A	ENST00000359568.5	+	28	5655	c.5548G>A	c.(5548-5550)Gaa>Aaa	p.E1850K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	7	60	0	70	1850					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGCTGAGGTCGAAGACATGGC	0.617000													1	1	1	1	1	1	0.990831	8	61	0	76	0	0	1	0	0	76	5
PCNT	5116	broad.mit.edu	37	21	47831655	47831655	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr21:47831655G>A	ENST00000359568.5	+	28	5775	c.5668G>A	c.(5668-5670)Gag>Aag	p.E1890K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	9	35	0	54	1890					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCACTCTGCCGAGCTGGAGGC	0.672000													1	1	1	1	1	1	0.997951	10	36	0	56	0	0	0	1	0	56	5
PI4KA	5297	broad.mit.edu	37	22	21081548	21081548	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:21081548G>A	ENST00000255882.6	-	41	4997	c.4911C>T	c.(4909-4911)taC>taT	p.Y1637Y	PI4KA_ENST00000572273.1_Silent_p.Y1579Y|PI4KA_ENST00000414196.3_Silent_p.Y389Y	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	15	43	0	44	1579					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-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)			CTTTCACCCCGTACTGCGCCG	0.657000													1	1	1	1	1	1	0.999969	16	53	0	46	1	9.183302e-01	4	13	0	46	5
GUCD1	83606	broad.mit.edu	37	22	24944010	24944010	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:24944010C>G	ENST00000435822.1	-	3	484	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	GUCD1_ENST00000407471.3_Missense_Mutation_p.E54Q|GUCD1_ENST00000402766.1_Missense_Mutation_p.E54Q|GUCD1_ENST00000404664.3_Missense_Mutation_p.E110Q|GUCD1_ENST00000447813.2_Missense_Mutation_p.E54Q	NM_031444.2	NP_113632.2			guanylyl cyclase domain containing 1	5	58	0	56																		AGGGCTCTCTCAAACTCACTG	0.602000													1	1	1	1	0	1	0.940103	5	60	0	59	1	3.840847e-01	5	10	0	59	4
NEFH	4744	broad.mit.edu	37	22	29886561	29886561	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:29886561G>T	ENST00000310624.6	+	4	2965	c.2932G>T	c.(2932-2934)Gat>Tat	p.D978Y		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	6	77	0	70	984	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGCCAAGGAAGATGACAAGAC	0.512000													1	1	1	1	0	1	0.966713	6	83	0	76	0	0	0	1	0	76	4
ZMAT5	55954	broad.mit.edu	37	22	30134374	30134374	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:30134374G>C	ENST00000397781.3	-	6	578	c.328C>G	c.(328-330)Ctg>Gtg	p.L110V	ZMAT5_ENST00000344318.3_Missense_Mutation_p.L110V	NM_019103.2	NP_061976.1	Q9UDW3	ZMAT5_HUMAN	zinc finger, matrin-type 5	4	49	0	62	110					mRNA processing	cytoplasm|U12-type spliceosomal complex	nucleic acid binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(5;0.000597)|all cancers(5;0.0534)|Epithelial(10;0.0574)			CAGTCCTCCAGATGGCCCTCG	0.642000													0	0	1	0	1	1	0.892642	4	57	0	69	1	9.814861e-01	20	99	0	69	2
SLC35E4	339665	broad.mit.edu	37	22	31042916	31042916	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:31042916C>T	ENST00000343605.4	+	2	1750	c.951C>T	c.(949-951)ctC>ctT	p.L317L	SLC35E4_ENST00000406566.1_Intron|SLC35E4_ENST00000300385.8_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	10	70	0	85	317	Leu-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCATCGCACTCACTCTTTCAG	0.627000													1	1	1	1	1	1	0.997476	10	73	0	87	0	0	0	1	0	87	5
MYH9	4627	broad.mit.edu	37	22	36697661	36697661	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:36697661C>A	ENST00000216181.5	-	21	2780	c.2550G>T	c.(2548-2550)aaG>aaT	p.K850N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	12	47	0	61	850					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			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCTCCTCCTTGGCCATCA	0.617000			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)	1	1	1	1	1	1	0.999731	13	48	0	65	1	9.998604e-01	35	33	0	65	5
TCF20	6942	broad.mit.edu	37	22	42607449	42607449	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:42607449G>C	ENST00000359486.3	-	1	3999	c.3863C>G	c.(3862-3864)tCa>tGa	p.S1288*	TCF20_ENST00000335626.4_Nonsense_Mutation_p.S1288*	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	16	86	0	94	1288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCCTTCTTTTGATGAGTGAAG	0.438000													1	1	1	1	1	1	0.999990	18	90	0	98	0	1.434574e-01	1	3	0	98	5
SERHL2	253190	broad.mit.edu	37	22	42968533	42968533	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:42968533G>T	ENST00000327678.5	+	11	925	c.823G>T	c.(823-825)Gag>Tag	p.E275*	SERHL2_ENST00000335879.5_Nonsense_Mutation_p.E211*|RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000407614.4_Nonsense_Mutation_p.E95*|SERHL2_ENST00000340239.4_3'UTR	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	5	73	0	74	275						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CACCCTCAAAGAGGTAAGACG	0.527000													0	0	1	0	0	1	0.939576	5	76	0	74	1	7.124121e-01	10	14	0	74	1
NUP50	10762	broad.mit.edu	37	22	45577223	45577223	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:45577223G>C	ENST00000347635.3	+	6	1526	c.1060G>C	c.(1060-1062)Gaa>Caa	p.E354Q	NUP50_ENST00000407019.2_Missense_Mutation_p.E326Q|NUP50_ENST00000396096.2_Missense_Mutation_p.E326Q|NUP50_ENST00000425733.2_Missense_Mutation_p.E104Q	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	4	54	0	48	354	RanBD1.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGAAGTAAAAGAAGAAGATGC	0.418000													1	0	1	1	0	1	0.939984	5	63	0	55	0	9.404724e-02	0	6	0	55	3
PKDREJ	10343	broad.mit.edu	37	22	46653081	46653081	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr22:46653081C>G	ENST00000253255.5	-	1	6138	c.6139G>C	c.(6139-6141)Gat>Cat	p.D2047H		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	8	64	0	60	2047					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATAATGTGATCTACCTGAGAA	0.428000													1	1	1	1	1	1	0.990670	8	69	0	63	0	0	0	0	0	63	5
FRMPD4	9758	broad.mit.edu	37	X	12735697	12735697	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:12735697G>A	ENST00000380682.1	+	16	3258	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	24	199	0	190	918					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGAAATGACTGAGAGTTCTGA	0.493000													1	1	1	1	1	1	1.000000	25	208	0	196	0	0	0	0	0	196	5
MAP3K15	389840	broad.mit.edu	37	X	19507020	19507020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:19507020G>A	ENST00000338883.4	-	2	426	c.427C>T	c.(427-429)Cga>Tga	p.R143*		NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	24	84	0	109	143							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AAGCTTTCTCGGACTCCAAGA	0.488000													1	1	1	1	1	1	1.000000	26	87	0	115	0	0	0	0	0	115	5
KDM5C	8242	broad.mit.edu	37	X	53222263	53222263	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:53222263C>G	ENST00000375401.3	-	26	5101	c.4569G>C	c.(4567-4569)caG>caC	p.Q1523H	KDM5C_ENST00000375379.3_Missense_Mutation_p.Q1520H|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q1479H|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q1522H|KDM5C_ENST00000452825.3_Intron	NM_004187.3	NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	3	36	0	38	1523					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			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCAAGCCATTCTGGTTCTCCT	0.677000			N, F, S		clear cell renal carcinoma								0	0	1	0	0	1	0.812643	3	38	0	38	1	9.872654e-01	4	127	0	38	1
TRO	7216	broad.mit.edu	37	X	54955689	54955689	+	Silent	SNP	A	A	G			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:54955689A>G	ENST00000173898.7	+	12	2644	c.2532A>G	c.(2530-2532)ggA>ggG	p.G844G	TRO_ENST00000420798.2_Silent_p.G375G|TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Silent_p.G447G|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	4	52	0	37	844	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TCAGTGGTGGAGCCAGCTCTG	0.557000													1	0	1	1	0	1	0.967683	6	53	0	37	0	0	0	0	0	37	3
HEPH	9843	broad.mit.edu	37	X	65483502	65483502	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:65483502C>T	ENST00000519389.1	+	20	3557	c.3378C>T	c.(3376-3378)ctC>ctT	p.L1126L	HEPH_ENST00000374727.3_Silent_p.L1075L|HEPH_ENST00000419594.1_Silent_p.L883L|HEPH_ENST00000343002.2_Silent_p.L1072L|HEPH_ENST00000336279.5_Silent_p.L805L|HEPH_ENST00000441993.2_Silent_p.L1075L			Q9BQS7	HEPH_HUMAN	hephaestin	6	62	0	51	1072					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TAAGCCCTCTCACCGTCATCA	0.443000													1	0	1	1	0	1	0.982327	7	69	0	60	0	3.125315e-01	1	10	0	60	3
P2RY10	0	broad.mit.edu	37	X	78216918	78216918	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:78216918G>A	ENST00000171757.2	+	4	1181	c.901G>A	c.(901-903)Gat>Aat	p.D301N	P2RY10_ENST00000544091.1_Missense_Mutation_p.D301N	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	17	161	0	156	301						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.D301N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CTGCCTTTTGGATCCAATTCT	0.493000													1	1	1	1	0	1	0.999986	18	170	0	166	0	1.891254e-01	0	8	0	166	4
POF1B	79983	broad.mit.edu	37	X	84601021	84601021	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:84601021G>A	ENST00000262753.4	-	6	713	c.568C>T	c.(568-570)Cat>Tat	p.H190Y	POF1B_ENST00000373145.3_Missense_Mutation_p.H190Y	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	5	47	0	37	190							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ATAATGTGATGATGGCATTGA	0.438000													1	0	1	1	0	1	0.940714	5	48	0	41	0	0	0	0	0	41	3
RNF128	79589	broad.mit.edu	37	X	106034391	106034391	+	Silent	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:106034391G>A	ENST00000255499.2	+	6	1330	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E	RNF128_ENST00000324342.3_Silent_p.E334E	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	14	189	0	183	360						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATCGCAGCGAGACCGCATCAT	0.448000													1	1	1	1	0	1	0.999785	14	199	0	188	0	2.045069e-01	0	12	0	188	4
PLS3	5358	broad.mit.edu	37	X	114856633	114856633	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:114856633G>T	ENST00000420625.2	+	3	283	c.149G>T	c.(148-150)gGa>gTa	p.G50V	PLS3_ENST00000539310.1_Missense_Mutation_p.G5V|PLS3_ENST00000355899.3_Missense_Mutation_p.G50V|PLS3_ENST00000537301.1_Missense_Mutation_p.G28V|PLS3_ENST00000289290.3_Missense_Mutation_p.G5V	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	9	76	0	71	50						cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CCATTACCAGGATATAAAGTG	0.353000													1	0	1	1	0	1	0.994987	9	84	0	83	0	1.294921e-01	0	6	0	83	3
F9	2158	broad.mit.edu	37	X	138630629	138630629	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:138630629C>T	ENST00000218099.2	+	5	506	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	F9_ENST00000394090.2_Nonsense_Mutation_p.Q129*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	5	55	0	54	167	EGF-like 2.		Q -> H (in HEMB; mild).		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			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGCAGAAAACCAGAAGTCCTG	0.348000													1	1	1	1	0	1	0.967416	6	59	0	62	0	0	0	0	0	62	4
MAGEA10	4109	broad.mit.edu	37	X	151303366	151303366	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:151303366C>T	ENST00000370323.4	-	4	1043	c.727G>A	c.(727-729)Gag>Aag	p.E243K	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.E243K	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	12	95	0	77	243	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGACCTCCTCAGGGGTGCAG	0.512000													1	1	1	1	1	1	0.999638	13	103	0	80	0	0	0	0	0	80	5
HCFC1	3054	broad.mit.edu	37	X	153217411	153217411	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:153217411G>A	ENST00000310441.7	-	20	6107	c.5141C>T	c.(5140-5142)aCt>aTt	p.T1714I	HCFC1_ENST00000354233.3_Missense_Mutation_p.T1645I|HCFC1_ENST00000369984.4_Missense_Mutation_p.T1759I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	6	16	0	24	1714					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			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	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)					CAGGGCCTCAGTGGGGAGGTG	0.652000													1	0	1	1	1	1	0.972347	6	17	0	26	0	5.996566e-01	0	7	0	26	4
FLNA	0	broad.mit.edu	37	X	153595790	153595790	+	Silent	SNP	C	C	T			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:153595790C>T	ENST00000422373.1	-	5	1091	c.843G>A	c.(841-843)ccG>ccA	p.P281P	FLNA_ENST00000360319.4_Silent_p.P281P|FLNA_ENST00000344736.4_Silent_p.P281P|FLNA_ENST00000369850.3_Silent_p.P281P	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	11	88	0	88	281					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	p.P281P(1)		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)					GGGCTTTCTTCGGGTTCAGTT	0.622000													1	1	1	1	0	1	0.999312	12	90	0	92	0	4.528302e-02	0	3	0	92	4
ATP6AP1	537	broad.mit.edu	37	X	153663762	153663762	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:153663762G>A	ENST00000369762.2	+	9	1175	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	21	51	0	76	372					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	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)					CTTCCACTGCGAGTATGTCAG	0.592000													1	1	1	1	1	1	1.000000	25	56	0	86	0	1	0	181	0	86	5
F8	2157	broad.mit.edu	37	X	154197759	154197759	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chrX:154197759G>A	ENST00000360256.4	-	7	1056	c.856C>T	c.(856-858)Cac>Tac	p.H286Y		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	29	97	0	120	286	F5/8 type A 1.|Plastocyanin-like 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			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	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)	AATATTGAGTGCACTTCAGGA	0.453000													1	1	1	1	1	1	1.000000	32	102	0	136	0	0	0	0	0	136	5
ZSWIM5	57643	broad.mit.edu	37	1	45553866	45553867	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr1:45553866_45553867delAG	ENST00000359600.5	-	2	843_844	c.638_639delCT	c.(637-639)tfs	p.S213fs	ZSWIM5_ENST00000464588.1_5'UTR	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	6	58	0	45	213							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGCTGGTTCAGAGGCAGTGGC	0.421000													0	0	1	1	0	1	0.967195	6	65	0	48							2
TNPO3	23534	broad.mit.edu	37	7	128610355	128610356	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-N9-A4Q7-01A-11D-A28R-08	TCGA-N9-A4Q7-10B-01D-A28U-08			AA	-	AA	AA		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272fa0b4-6b90-4f05-bf1a-5b02bd90dfa7	43f5a1ae-b52c-4f69-9da1-c16cfa218bd1	g.chr7:128610355_128610356delAA	ENST00000393245.1	-	20	2919_2920	c.2546_2547delTT	c.(2545-2547)tfs	p.F849fs	TNPO3_ENST00000471234.1_Frame_Shift_Del_p.F751fs|TNPO3_ENST00000482320.1_Frame_Shift_Del_p.F749fs|TNPO3_ENST00000471166.1_Frame_Shift_Del_p.F849fs|TNPO3_ENST00000265388.5_Frame_Shift_Del_p.F815fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	46	167	0	188	815					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCCGTAATTCAAAGTCTTCTTC	0.455000													1	1	1	1	0	1	1.000000	47	214	0	190	0	9.950928e-01	1	39	0	190	4
CASZ1	54897	broad.mit.edu	37	1	10713827	10713827	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:10713827T>A	ENST00000377022.3	-	11	2604	c.2287A>T	c.(2287-2289)Agt>Tgt	p.S763C	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.S763C	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	8	47	0	94	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	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)		TTGGTGGCACTGGGCCCAGCC	0.701000													1	1	1	1	1	1	0.991094	8	51	0	101	0	6.308076e-02	1	2	0	101	5
UBXN10	127733	broad.mit.edu	37	1	20517119	20517119	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:20517119T>A	ENST00000375099.3	+	2	149	c.65T>A	c.(64-66)gTt>gAt	p.V22D		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	9	116	0	101	22										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AGCACAGCAGTTGACAGCCTC	0.512000													1	1	1	1	0	1	0.994746	9	122	0	104	0	7.287102e-02	0	6	0	104	4
EIF3I	8668	broad.mit.edu	37	1	32694780	32694780	+	Silent	SNP	C	C	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:32694780C>A	ENST00000373586.1	+	9	846	c.774C>A	c.(772-774)acC>acA	p.T258T		NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	27	45	0	86	258						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				TAACCACAACCTCCACCAGGA	0.443000													1	1	1	1	1	1	1.000000	28	50	0	102	1	1	194	509	0	102	5
NBPF10	100132406	broad.mit.edu	37	1	145293414	145293414	+	Silent	SNP	A	A	G			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:145293414A>G	ENST00000342960.5	+	1	44	c.9A>G	c.(7-9)gtA>gtG	p.V3V	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Silent_p.V3V|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	38	921	0	884	3										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCATGGTGGTATCAGCCGGCC	0.493000													1	0	1	1	0	1	1.000000	44	1021	0	968	0	5.289761e-03	0	3	0	968	3
FCRL5	83416	broad.mit.edu	37	1	157516848	157516848	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:157516848T>A	ENST00000361835.3	-	3	349	c.192A>T	c.(190-192)aaA>aaT	p.K64N	FCRL5_ENST00000368189.3_Missense_Mutation_p.K64N|FCRL5_ENST00000356953.4_Missense_Mutation_p.K64N|FCRL5_ENST00000368190.3_Missense_Mutation_p.K64N|FCRL5_ENST00000368188.2_Missense_Mutation_p.K64N|FCRL5_ENST00000368191.3_Intron	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	23	89	0	101	64	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTAGTATTTCTTTCCCAAGGT	0.502000													1	1	1	1	1	1	1.000000	23	92	0	104	0	0	0	0	0	104	5
FMN2	56776	broad.mit.edu	37	1	240371964	240371964	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr1:240371964G>C	ENST00000319653.9	+	5	4082	c.3852G>C	c.(3850-3852)aaG>aaC	p.K1284N		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	9	60	0	68	1284	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			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGAGTAGGAAGCAGCCCATAG	0.468000													1	1	1	1	1	1	0.995171	9	66	0	73	0	0	0	1	0	73	5
SULT1C3	442038	broad.mit.edu	37	2	108868909	108868909	+	Silent	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr2:108868909C>T	ENST00000376700.1	+	2	261	c.261C>T	c.(259-261)caC>caT	p.H87H	SULT1C3_ENST00000329106.2_Silent_p.H87H			Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	12	25	0	43	87						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TAGATAGACACGCTTTCCTTG	0.373000													1	1	1	1	1	1	0.999604	12	27	0	50	0	0	0	0	0	50	5
COL4A4	1286	broad.mit.edu	37	2	227896894	227896894	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr2:227896894G>A	ENST00000396625.3	-	39	3883	c.3676C>T	c.(3676-3678)Cgt>Tgt	p.R1226C	COL4A4_ENST00000329662.7_Missense_Mutation_p.R1226C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	38	31	0	94	1226	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		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)		TTCTTTCCACGAGGACCTGGA	0.527000													1	1	1	1	1	1	1.000000	40	34	0	104	0	0	1	0	0	104	5
SLC4A7	9497	broad.mit.edu	37	3	27475588	27475588	+	Silent	SNP	T	T	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr3:27475588T>A	ENST00000295736.5	-	6	640	c.570A>T	c.(568-570)gtA>gtT	p.V190V	SLC4A7_ENST00000428386.1_Silent_p.V190V|SLC4A7_ENST00000455077.1_Silent_p.V195V|SLC4A7_ENST00000437179.1_Silent_p.V195V|SLC4A7_ENST00000445684.1_Silent_p.V199V|SLC4A7_ENST00000435667.2_Silent_p.V199V|SLC4A7_ENST00000446700.1_Silent_p.V195V|SLC4A7_ENST00000425128.2_Silent_p.V195V|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000454389.1_Silent_p.V199V|SLC4A7_ENST00000440156.1_Silent_p.V199V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	4	29	0	24	190						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TGTTGTCTAATACCATATCTA	0.323000													1	0	1	1	1	1	0.942616	5	29	0	25	0	1.406791e-01	0	4	0	25	4
PCDH7	5099	broad.mit.edu	37	4	30921970	30921970	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr4:30921970G>T	ENST00000543491.1	+	2	3370	c.3370G>T	c.(3370-3372)Gag>Tag	p.E1124*	PCDH7_ENST00000509925.1_3'UTR			O60245	PCDH7_HUMAN	protocadherin 7	40	42	0	72	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CAGTGTTGGTGAGGCAGAGCA	0.498000													1	1	0	1	0	1	1.000000	42	46	0	78	1	9.469374e-01	5	3	0	78	3
HHIP	64399	broad.mit.edu	37	4	145580927	145580927	+	Silent	SNP	T	T	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr4:145580927T>C	ENST00000296575.3	+	4	1423	c.768T>C	c.(766-768)ccT>ccC	p.P256P	HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Silent_p.P256P	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	58	72	0	136	256						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TACTTACCCCTGAAGGAGAAA	0.428000													1	1	1	1	1	1	1.000000	65	80	0	151	0	0	0	1	0	151	5
PRPF4B	8899	broad.mit.edu	37	6	4021681	4021681	+	Missense_Mutation	SNP	T	T	G			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:4021681T>G	ENST00000337659.6	+	1	122	c.22T>G	c.(22-24)Tcg>Gcg	p.S8A		NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	11	10	0	10	8						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GGAGACCCAGTCGCTACGGGA	0.662000													0	1	1	1	0	1	0.999996	16	11	0	11	1	9.999915e-01	17	8	0	11	3
GFOD1	54438	broad.mit.edu	37	6	13365867	13365867	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:13365867C>T	ENST00000379287.3	-	2	945	c.281G>A	c.(280-282)cGc>cAc	p.R94H	GFOD1_ENST00000379284.1_5'UTR	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	32	74	1	115	94						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			CGTGGCCGTGCGGTCGCAGAT	0.657000													1	0	1	1	1	1	0.999999	33	80	2	125	0	0	0	0	2	125	4
HLA-DRA	3122	broad.mit.edu	37	6	32410986	32410986	+	Missense_Mutation	SNP	C	C	T	rs61117681		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:32410986C>T	ENST00000395388.2	+	3	462	c.353C>T	c.(352-354)aCa>aTa	p.T118I	HLA-DRA_ENST00000374982.5_Intron	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	7	57	0	49	118	Alpha-2.|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|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						ACTGTGCTCACAAACAGCCCT	0.512000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				1	1	1	1	0	1	0.982577	7	60	0	54	0	9.993065e-01	1	137	0	54	4
HTR1E	3354	broad.mit.edu	37	6	87725129	87725129	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:87725129G>T	ENST00000305344.4	+	2	780	c.77G>T	c.(76-78)tGc>tTc	p.C26F	HTR1E_ENST00000369584.1_Missense_Mutation_p.C26F	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	49	41	0	61	26					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		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)	ATGCTCATTTGCATGACTCTG	0.498000													1	1	1	1	1	1	1.000000	53	43	0	65	0	0	0	0	0	65	5
BCLAF1	9774	broad.mit.edu	37	6	136589310	136589310	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:136589310C>G	ENST00000531224.1	-	10	2639	c.2387G>C	c.(2386-2388)cGa>cCa	p.R796P	BCLAF1_ENST00000530767.1_Missense_Mutation_p.R623P|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R796P|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R14P|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R794P|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R794P|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R794P	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	48	77	1	124	796					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAAGGTTCCTCGTGGTCGGCT	0.358000													1	0	1	1	1	1	1.000000	54	90	1	134	1	1	157	112	1	134	4
BCLAF1	9774	broad.mit.edu	37	6	136597335	136597335	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:136597335G>C	ENST00000531224.1	-	5	1580	c.1328C>G	c.(1327-1329)tCa>tGa	p.S443*	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.S443*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.S441*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.S441*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.S441*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	32	135	0	157	443					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GCCTTTCAGTGAAACTTTGGA	0.398000													1	1	1	1	0	1	1.000000	33	139	0	163	1	9.755917e-01	5	23	0	163	4
TNFAIP3	7128	broad.mit.edu	37	6	138200072	138200072	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr6:138200072G>A	ENST00000237289.4	+	7	1556	c.1490G>A	c.(1489-1491)cGt>cAt	p.R497H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	8	61	0	57	497	Interaction with NAF1 (By similarity).				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?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TTTTGTGAACGTTGCCACAAC	0.597000			D, N, F		marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma								1	1	1	1	1	1	0.990831	8	61	0	58	0	2.712699e-01	0	8	0	58	5
DNAH11	8701	broad.mit.edu	37	7	21805153	21805153	+	Silent	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr7:21805153G>A	ENST00000328843.6	+	56	9100	c.9069G>A	c.(9067-9069)caG>caA	p.Q3023Q	DNAH11_ENST00000409508.3_Silent_p.Q3016Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	15	41	0	84	3023	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGTGGCCGCAGGAGGCTCTGG	0.542000									Kartagener syndrome				1	1	1	1	1	1	0.999943	15	44	0	86	0	0	0	1	0	86	5
ZNF804B	219578	broad.mit.edu	37	7	88963677	88963677	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr7:88963677C>A	ENST00000333190.4	+	4	1990	c.1381C>A	c.(1381-1383)Ctt>Att	p.L461I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	17	39	0	56	461						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCCTACGGAACTTCTGCTCTT	0.423000										HNSCC(36;0.09)			1	1	1	1	1	1	0.999989	17	41	0	63	0	0	0	0	0	63	5
PPP1R3A	5506	broad.mit.edu	37	7	113518497	113518497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr7:113518497G>A	ENST00000284601.3	-	4	2718	c.2650C>T	c.(2650-2652)Cag>Tag	p.Q884*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	9	48	0	52	884					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTTGAACCTGCCTAAGATCT	0.368000													1	1	1	1	1	1	0.995435	9	51	0	56	0	0	0	0	0	56	5
GIMAP1	170575	broad.mit.edu	37	7	150417642	150417642	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr7:150417642C>T	ENST00000307194.5	+	3	690	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1	19	44	1	80											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCGGGGGCCGGGTCTGTGC	0.677000													1	0	1	1	1	1	0.999923	21	46	1	86	0	0	0	0	1	86	4
ZMAT4	79698	broad.mit.edu	37	8	40438702	40438702	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:40438702C>G	ENST00000297737.6	-	6	802	c.656G>C	c.(655-657)gGa>gCa	p.G219A	ZMAT4_ENST00000315769.7_Missense_Mutation_p.G143A	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	227	31	1	79	219						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	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)			GTGTTTAGATCCTTTCAGATG	0.408000													1	0	1	1	1	1	1.000000	248	34	1	95	0	0	0	0	1	95	4
TOX	9760	broad.mit.edu	37	8	59851928	59851928	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:59851928A>G	ENST00000361421.1	-	3	564	c.344T>C	c.(343-345)cTc>cCc	p.L115P		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	8	141	0	79	115						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		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)				GATTTCAGGGAGGTCCATGTT	0.478000													1	0	1	1	0	1	0.989972	8	145	0	85	0	0	0	0	0	85	3
KIAA1429	25962	broad.mit.edu	37	8	95518910	95518910	+	Silent	SNP	A	A	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:95518910A>T	ENST00000297591.5	-	16	3990	c.3915T>A	c.(3913-3915)ggT>ggA	p.G1305G	KIAA1429_ENST00000437199.1_Silent_p.G1305G	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	19	132	0	65	1305					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CAGAAATAGAACCTTCAGAAG	0.393000													1	1	1	1	1	1	0.999994	19	143	0	72	1	6.453958e-01	3	15	0	72	5
ANXA13	312	broad.mit.edu	37	8	124693594	124693594	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:124693594G>T	ENST00000262219.6	-	12	1027	c.960C>A	c.(958-960)gaC>gaA	p.D320E	ANXA13_ENST00000419625.1_Missense_Mutation_p.D279E	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	48	294	0	165	279					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCCCTGAAGGTCCACCTGTA	0.438000													1	1	1	1	1	1	1.000000	49	310	0	177	0	1.450893e-01	0	5	0	177	5
EPPK1	83481	broad.mit.edu	37	8	144941352	144941352	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr8:144941352G>A	ENST00000525985.1	-	2	6141	c.6070C>T	c.(6070-6072)Cgg>Tgg	p.R2024W				P58107	EPIPL_HUMAN	epiplakin 1	6	100	0	60	2024						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	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)			AGTGGGAGCCGGTGGTGGTGC	0.612000													1	0	1	1	0	1	0.966312	6	107	0	67	0	5.122391e-02	0	6	0	67	3
IGFBPL1	347252	broad.mit.edu	37	9	38411522	38411522	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr9:38411522C>A	ENST00000377694.1	-	4	734	c.712G>T	c.(712-714)Gag>Tag	p.E238*		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	11	17	0	48	238	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		TACACACCCTCATCCTCCTTT	0.448000													1	1	1	1	1	1	0.999699	12	19	0	55	0	0	0	0	0	55	5
ABCC2	1244	broad.mit.edu	37	10	101559103	101559103	+	Missense_Mutation	SNP	C	C	T	rs149854486		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr10:101559103C>T	ENST00000370449.4	+	8	1120	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	15	183	0	271	336	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		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)	GACATCTTCACGTTTGTGAGT	0.473000													1	1	1	1	0	1	0.999944	16	197	0	300	0	0	0	0	0	300	4
FAM24B	196792	broad.mit.edu	37	10	124608784	124608784	+	Silent	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr10:124608784G>A	ENST00000368898.3	-	4	554	c.264C>T	c.(262-264)tgC>tgT	p.C88C	FAM24B_ENST00000368896.1_Silent_p.C88C|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000462859.1_5'UTR|CUZD1_ENST00000368904.1_5'UTR	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	14	41	0	83	88						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		CATTTATGTCGCAACAGCAAG	0.448000													1	1	1	1	1	1	0.999975	16	42	0	91	0	8.972985e-01	0	13	0	91	5
GTF2H1	2965	broad.mit.edu	37	11	18369434	18369434	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr11:18369434G>C	ENST00000265963.4	+	9	1181	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H	GTF2H1_ENST00000530496.2_Missense_Mutation_p.D29H|GTF2H1_ENST00000524753.4_Missense_Mutation_p.D137H|GTF2H1_ENST00000453096.2_Missense_Mutation_p.D341H|GTF2H1_ENST00000534641.1_Missense_Mutation_p.D225H	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	6	44	0	47	341					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			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AAATTCCGGAGATGCAGACTG	0.393000								Nucleotide excision repair (NER)					1	0	1	1	1	1	0.967838	6	50	0	53	1	8.118378e-01	6	22	0	53	4
PKNOX2	63876	broad.mit.edu	37	11	125301240	125301240	+	Silent	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr11:125301240G>A	ENST00000298282.9	+	13	1642	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	PKNOX2_ENST00000542175.1_Silent_p.T393T|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	28	20	0	57	457						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		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)		AGCTGCAGACGACAAATGTCA	0.582000													1	1	1	1	1	1	1.000000	28	20	0	58	0	0	0	0	0	58	5
ITGA5	3678	broad.mit.edu	37	12	54799462	54799462	+	Silent	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr12:54799462G>A	ENST00000293379.4	-	11	1263	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	43	35	1	107	334					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			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCCCATTGACGTCTGTGGCGG	0.547000													1	0	1	1	1	1	1.000000	48	41	1	118	0	5.569641e-01	0	3	1	118	4
OR10A7	121364	broad.mit.edu	37	12	55615303	55615303	+	Silent	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr12:55615303C>T	ENST00000326258.1	+	1	495	c.495C>T	c.(493-495)gcC>gcT	p.A165A		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	9	44	0	92	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						GGATGATGGCCCTTCCTTTCT	0.473000													1	1	1	1	1	1	0.995500	9	48	0	100	0	0	0	0	0	100	5
NCOR2	9612	broad.mit.edu	37	12	124911256	124911256	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr12:124911256C>T	ENST00000356219.3	-	12	1395	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R	NCOR2_ENST00000405201.1_Missense_Mutation_p.G414R|NCOR2_ENST00000404621.1_Missense_Mutation_p.G413R|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Missense_Mutation_p.G414R|NCOR2_ENST00000429285.2_Missense_Mutation_p.G413R	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	24	42	0	102	414					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			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	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)		GCCATAAGCCCGTTCATGTTG	0.572000													1	1	1	1	1	1	1.000000	27	47	0	108	0	4.684197e-01	0	4	0	108	5
LCP1	3936	broad.mit.edu	37	13	46733004	46733004	+	Missense_Mutation	SNP	T	T	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr13:46733004T>A	ENST00000398576.2	-	6	573	c.185A>T	c.(184-186)gAt>gTt	p.D62V	LCP1_ENST00000323076.2_Missense_Mutation_p.D62V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	70	57	0	132	62	EF-hand 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		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)		TTGGTCCAGATCACCTGTAGC	0.418000			T	BCL6	NHL								1	1	1	1	1	1	1.000000	76	64	0	144	0	2.957746e-01	0	2	0	144	5
CEP128	145508	broad.mit.edu	37	14	81244369	81244369	+	Missense_Mutation	SNP	T	T	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr14:81244369T>C	ENST00000555265.1	-	16	2608	c.2233A>G	c.(2233-2235)Aat>Gat	p.N745D	CEP128_ENST00000281129.3_Missense_Mutation_p.N745D			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	25	24	0	52	745						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTAGCCATATTCTTCTCTTCT	0.363000													1	1	1	1	1	1	1.000000	27	27	0	60	0	6.810883e-01	1	3	0	60	5
TGM5	9333	broad.mit.edu	37	15	43531185	43531185	+	Missense_Mutation	SNP	G	G	A	rs141830093		TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr15:43531185G>A	ENST00000220420.5	-	9	1182	c.1175C>T	c.(1174-1176)aCg>aTg	p.T392M	TGM5_ENST00000349114.4_Missense_Mutation_p.T310M	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	4	40	0	44	392					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		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)	CACAAAGGGCGTGTCATAGTT	0.557000													1	0	1	1	1	1	0.940987	5	44	0	47	0	0	0	0	0	47	4
ENO3	2027	broad.mit.edu	37	17	4858886	4858886	+	Missense_Mutation	SNP	C	C	G			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr17:4858886C>G	ENST00000323997.6	+	8	984	c.852C>G	c.(850-852)atC>atG	p.I284M	ENO3_ENST00000519584.1_Missense_Mutation_p.I241M|ENO3_ENST00000518175.1_Missense_Mutation_p.I284M	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	199	237	2	306	284					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						AGAGCTTTATCAAGAACTATC	0.517000													1	0	0	1	1	1	1.000000	211	249	2	330	1	9.412327e-01	4	4	2	330	3
TP53	7157	broad.mit.edu	37	17	7573982	7573982	+	Nonsense_Mutation	SNP	C	C	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr17:7573982C>A	ENST00000269305.4	-	10	1234	c.1045G>T	c.(1045-1047)Gaa>Taa	p.E349*	TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Nonsense_Mutation_p.E349*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	28	4	0	42	349	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> D (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E349*(11)|p.0?(8)|p.L348_E349>F*(2)|p.E349fs*21(2)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TCCTTGAGTTCCAAGGCCTCA	0.597000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	30	4	0	48	1	1	38	1	0	48	5
SPOP	8405	broad.mit.edu	37	17	47696405	47696405	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr17:47696405C>A	ENST00000393331.3	-	7	888	c.418G>T	c.(418-420)Gat>Tat	p.D140Y	SPOP_ENST00000393328.2_Missense_Mutation_p.D140Y|SPOP_ENST00000503676.1_Missense_Mutation_p.D140Y|SPOP_ENST00000504102.1_Missense_Mutation_p.D140Y|SPOP_ENST00000347630.2_Missense_Mutation_p.D140Y	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	108	9	1	126	140	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.D140N(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AAAAGAAAATCTCTACGGATG	0.463000										Prostate(2;0.17)			1	0	1	1	1	1	1.000000	116	9	2	136	1	1	16	0	2	136	4
GMIP	51291	broad.mit.edu	37	19	19741121	19741121	+	Nonsense_Mutation	SNP	G	G	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr19:19741121G>C	ENST00000203556.4	-	21	2701	c.2564C>G	c.(2563-2565)tCa>tGa	p.S855*	GMIP_ENST00000587238.1_Nonsense_Mutation_p.S829*|GMIP_ENST00000445806.2_Nonsense_Mutation_p.S826*	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	18	69	1	114	855					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCCAGGAGTGAGTCCTCTGG	0.607000													1	0	1	1	1	1	0.999940	22	72	1	131	1	9.831946e-01	16	9	1	131	4
TRPM4	54795	broad.mit.edu	37	19	49713575	49713575	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr19:49713575G>A	ENST00000252826.5	+	21	3367	c.3241G>A	c.(3241-3243)Gtc>Atc	p.V1081I	TRPM4_ENST00000355712.5_Missense_Mutation_p.V727I|TRPM4_ENST00000427978.2_Missense_Mutation_p.V936I	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	13	130	0	128	1081	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			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		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)		GCCCTTTATCGTCATCTCCCA	0.642000													1	1	1	1	0	1	0.999800	14	143	0	140	1	9.914226e-01	7	76	0	140	4
LILRA4	23547	broad.mit.edu	37	19	54848852	54848852	+	Missense_Mutation	SNP	C	C	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr19:54848852C>A	ENST00000291759.4	-	5	827	c.771G>T	c.(769-771)aaG>aaT	p.K257N		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	10	68	0	64	257	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CGGCCCCCTCCTTGTACAGAG	0.672000													1	1	1	1	1	1	0.997483	10	72	0	67	0	0	0	0	0	67	5
CST2	1470	broad.mit.edu	37	20	23807168	23807168	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr20:23807168C>T	ENST00000304725.2	-	1	200	c.130G>A	c.(130-132)Gta>Ata	p.V44I		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	29	37	0	62	44						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						GCACGCTGTACCCGCTCATCA	0.592000													1	1	1	1	1	1	1.000000	29	41	0	68	0	0	0	0	0	68	5
TMPRSS15	5651	broad.mit.edu	37	21	19666630	19666630	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr21:19666630C>T	ENST00000284885.3	-	21	2476	c.2443G>A	c.(2443-2445)Gtc>Atc	p.V815I		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	69	55	2	150	815	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCACTGCTGACGAGAGATGCG	0.577000													1	0	0	1	1	1	1.000000	71	57	2	156	0	0	0	0	2	156	3
GART	2618	broad.mit.edu	37	21	34878390	34878390	+	Missense_Mutation	SNP	A	A	G			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr21:34878390A>G	ENST00000381831.3	-	19	2737	c.2474T>C	c.(2473-2475)aTa>aCa	p.I825T	GART_ENST00000543717.1_Missense_Mutation_p.I377T|GART_ENST00000381839.3_Missense_Mutation_p.I825T|GART_ENST00000381815.4_Missense_Mutation_p.I825T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	29	55	0	81	825	GART.				'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			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGTACTGTCTATAAGTGCTTG	0.428000													1	1	1	1	1	1	1.000000	32	60	0	92	1	1	62	59	0	92	5
BRWD1	54014	broad.mit.edu	37	21	40571181	40571181	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr21:40571181C>T	ENST00000342449.3	-	40	5239	c.5161G>A	c.(5161-5163)Gag>Aag	p.E1721K	BRWD1_ENST00000333229.2_Missense_Mutation_p.E1721K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E1721K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	35	48	1	77	1721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTTCTGACTCTGAGTCTCTG	0.398000													1	0	1	1	1	1	1.000000	38	51	1	83	1	9.952443e-01	10	5	1	83	4
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	13	26	0	37	34					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	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		CLL, MDS								1	1	1	1	1	1	0.999957	15	32	0	43	1	1	259	299	0	43	5
HUWE1	10075	broad.mit.edu	37	X	53674334	53674334	+	Missense_Mutation	SNP	G	G	C			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chrX:53674334G>C	ENST00000342160.3	-	5	785	c.328C>G	c.(328-330)Cgg>Ggg	p.R110G	HUWE1_ENST00000262854.6_Missense_Mutation_p.R110G|HUWE1_ENST00000218328.8_Missense_Mutation_p.R110G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	25	26	0	59	110					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			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TACAGATGCCGGGAAAAGCTG	0.438000													1	1	1	1	1	1	1.000000	27	26	0	60	1	8.785043e-01	6	0	0	60	5
ALAS2	212	broad.mit.edu	37	X	55042071	55042071	+	Missense_Mutation	SNP	C	C	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chrX:55042071C>T	ENST00000330807.5	-	8	1245	c.1108G>A	c.(1108-1110)Gct>Act	p.A370T	ALAS2_ENST00000396198.3_Missense_Mutation_p.A357T|ALAS2_ENST00000335854.4_Missense_Mutation_p.A333T|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	27	53	0	71	370					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			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CCAATCCCAGCGCCCCGGGAC	0.527000													1	1	1	1	1	1	1.000000	28	57	0	77	0	0	0	0	0	77	5
GPRASP2	114928	broad.mit.edu	37	X	101972267	101972267	+	Missense_Mutation	SNP	G	G	T			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chrX:101972267G>T	ENST00000543253.1	+	5	3389	c.2470G>T	c.(2470-2472)Gcc>Tcc	p.A824S	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A824S|GPRASP2_ENST00000535209.1_Missense_Mutation_p.A824S	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2	4	73	0	155											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GCAACTACAAGCCCAAATAGA	0.403000													1	0	1	1	0	1	0.939550	5	77	0	164	1	3.397795e-01	2	15	0	164	3
BCL2L11	10018	broad.mit.edu	37	2	111921771	111921772	+	Frame_Shift_Ins	INS	-	-	A			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr2:111921771_111921772insA	ENST00000393256.3	+	4	833_834	c.560_561insA	c.(559-561)tcgfs	p.S187fs	BCL2L11_ENST00000308659.8_Frame_Shift_Ins_p.S127fs	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	35	70	0	89	187					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TTACGACTGTTACGTTACATTG	0.436000													1	1	1	1	0	1	1.000000	35	108	0	89	1	9.967649e-01	8	23	0	89	4
RRM1	6240	broad.mit.edu	37	11	4123271	4123272	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr11:4123271_4123272delAG	ENST00000300738.5	+	2	272_273	c.68_69delAG	c.(67-69)cfs	p.Q23fs	RRM1_ENST00000423050.2_5'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	18	31	0	39	23	ATP-cone.				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		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)	TCTCGAATCCAGAAGCTTTGTT	0.327000													1	1	1	1	0	1	0.999994	18	49	0	39	1	9.839257e-01	4	18	0	39	4
RPH3A	22895	broad.mit.edu	37	12	113285511	113285515	+	Frame_Shift_Del	DEL	GGCTG	GGCTG	-			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr12:113285511_113285515delGGCTG	ENST00000389385.4	+	5	591_595	c.94_98delGGCTG	c.(94-99)gfs	p.GW32fs	RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000543106.2_Frame_Shift_Del_p.GW32fs|RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000415485.3_Frame_Shift_Del_p.GW32fs|RPH3A_ENST00000420983.2_Frame_Shift_Del_p.GW32fs|RPH3A_ENST00000551052.1_Frame_Shift_Del_p.GW28fs	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	23	35	0	78	32					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCTCCAGGCAGGCTGGTCCGTCCAC	0.537000													1	1	1	1	0	1	1.000000	23	60	0	79							4
CAPN15	6650	broad.mit.edu	37	16	601377	601377	+	Frame_Shift_Del	DEL	C	C	-			TCGA-N9-A4Q8-01A-31D-A28R-08	TCGA-N9-A4Q8-11A-11D-A28U-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8be7078d-fea8-4251-a3ce-61b557ea7d2a	0ff13793-87ed-4219-a372-f1cf13c2489e	g.chr16:601377delC	ENST00000219611.2	+	8	2505	c.2142delC	c.(2140-2142)cgfs	p.R714fs	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15	55	57	0	83																		TGGGCCTGCGCCCCCGGCATG	0.682000													1	1	1	1	0	1	1.000000	55	114	0	84	1	1	5	58	0	84	4
ST6GALNAC3	256435	broad.mit.edu	37	1	76877743	76877743	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:76877743G>C	ENST00000328299.3	+	3	412	c.264G>C	c.(262-264)caG>caC	p.Q88H	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	31	30	0	65	88					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACTCAGGTCAGATGGTTGGCC	0.443000													1	1	1	1	1	1	1.000000	35	32	0	71	1	9.986955e-01	9	5	0	71	5
LCE2C	353140	broad.mit.edu	37	1	152648727	152648727	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr1:152648727G>A	ENST00000368783.1	+	2	291	c.236G>A	c.(235-237)cGt>cAt	p.R79H	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	127	132	1	200	79	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGGCCCCGTCTCTTCCAC	0.682000													1	1	1	1	1	1	1.000000	133	140	1	207	0	0	0	0	1	207	5
NRXN1	9378	broad.mit.edu	37	2	50723042	50723042	+	Splice_Site	SNP	C	C	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:50723042C>A	ENST00000404971.1	-	16	4530		c.e16+1		NRXN1_ENST00000405472.3_Splice_Site|NRXN1_ENST00000401710.1_Splice_Site|NRXN1_ENST00000401669.2_Splice_Site|NRXN1_ENST00000406859.3_Splice_Site|NRXN1_ENST00000331040.5_Splice_Site|NRXN1_ENST00000402717.3_Splice_Site|NRXN1_ENST00000406316.2_Splice_Site	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	18	7	0	33						adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATGCACTTACTCTTGAGGTC	0.473000													1	1	1	1	1	1	1.000000	19	7	0	38	1	1	92	0	0	38	5
DPP10	57628	broad.mit.edu	37	2	116593798	116593798	+	Silent	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:116593798C>T	ENST00000410059.1	+	22	2496	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S	DPP10_ENST00000393147.2_Silent_p.S676S|DPP10_ENST00000409163.1_Silent_p.S622S|DPP10_ENST00000310323.8_Silent_p.S665S	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	8	20	0	28	672					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATGTGGATCCGTGGTTGCAC	0.328000													1	1	1	1	1	1	0.996410	9	24	0	38	0	0	0	1	0	38	5
POTEF	728378	broad.mit.edu	37	2	130833004	130833004	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr2:130833004C>T	ENST00000357462.5	-	15	2134	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	POTEF_ENST00000360967.5_3'UTR|POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000409914.2_Missense_Mutation_p.E681K			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	35	37	0	39	681						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTCACACTTTCAATATCCTCC	0.398000													1	0	1	1	1	1	1.000000	36	38	0	32	0	0	0	0	0	32	4
RASGRF2	5924	broad.mit.edu	37	5	80476008	80476008	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr5:80476008G>A	ENST00000265080.4	+	18	2768	c.2701G>A	c.(2701-2703)Gag>Aag	p.E901K		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	22	107	0	129	901					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			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		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)		TAACAACACCGAGAGAACATG	0.443000													1	1	1	1	1	1	0.999999	22	118	0	151	0	0	0	0	0	151	5
DNAH8	1769	broad.mit.edu	37	6	38851677	38851677	+	Missense_Mutation	SNP	A	A	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr6:38851677A>C	ENST00000359357.3	+	54	7765	c.7511A>C	c.(7510-7512)aAg>aCg	p.K2504T	DNAH8_ENST00000449981.2_Missense_Mutation_p.K2721T|DNAH8_ENST00000441566.1_Missense_Mutation_p.K2468T					dynein, axonemal, heavy chain 8	27	101	0	54											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TACGTGGATAAGCGAATTGGA	0.363000													1	1	1	1	1	1	1.000000	30	108	0	60	0	0	0	0	0	60	5
COL9A1	1297	broad.mit.edu	37	6	70964902	70964902	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr6:70964902G>T	ENST00000357250.6	-	23	1720	c.1562C>A	c.(1561-1563)gCt>gAt	p.A521D	COL9A1_ENST00000320755.7_Missense_Mutation_p.A278D|COL9A1_ENST00000370499.4_Missense_Mutation_p.A278D|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	7	128	0	162	521	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGCACCTTCAGCCCCCTGCAG	0.448000													1	0	1	1	0	1	0.981428	7	140	0	175	0	0	0	0	0	175	3
HSPB1	3315	broad.mit.edu	37	7	75933345	75933345	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr7:75933345C>T	ENST00000248553.6	+	3	642	c.473C>T	c.(472-474)tCc>tTc	p.S158F	HSPB1_ENST00000429938.1_5'UTR	NM_001540.3	NP_001531.1	P04792	HSPB1_HUMAN	heat shock 27kDa protein 1	14	43	0	44	158	Interaction with TGFB1I1 (By similarity).				anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus	cell surface|cytosol|nucleus|proteasome complex|spindle	identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding			large_intestine(1)|lung(3)	4						TCCTCCCTGTCCCCTGAGGGC	0.637000													1	1	1	1	1	1	0.999874	14	47	0	46	1	1	738	2251	0	46	5
ARFGEF1	10565	broad.mit.edu	37	8	68204156	68204156	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr8:68204156T>C	ENST00000262215.3	-	6	1231	c.842A>G	c.(841-843)gAg>gGg	p.E281G		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	43	53	0	113	281					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	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)			ATTTTCAGGCTCTGTGTCATC	0.423000													1	1	1	1	1	1	1.000000	45	56	0	114	1	7.330379e-01	2	3	0	114	5
RHOBTB1	9886	broad.mit.edu	37	10	62648275	62648275	+	Missense_Mutation	SNP	T	T	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:62648275T>G	ENST00000337910.5	-	6	1488	c.1151A>C	c.(1150-1152)gAa>gCa	p.E384A	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.E384A	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	42	1867	0	134	384	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GACTTGCATTTCCCTGTGCAT	0.572000													1	0	1	1	0	1	1.000000	46	2003	0	145	1	8.674932e-01	4	150	0	145	3
TMEM26	219623	broad.mit.edu	37	10	63188798	63188798	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:63188798G>T	ENST00000399298.3	-	4	859	c.491C>A	c.(490-492)cCc>cAc	p.P164H	TMEM26_ENST00000399293.1_Missense_Mutation_p.P164H	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	25	831	0	64	164						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCCTCCAATGGGTAGAAGCCA	0.423000													1	0	1	1	0	1	1.000000	27	895	0	69	0	5.853314e-02	0	13	0	69	3
PGAM1	5223	broad.mit.edu	37	10	99190370	99190370	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:99190370C>T	ENST00000334828.5	+	2	522	c.374C>T	c.(373-375)cCg>cTg	p.P125L	PGAM1_ENST00000467867.1_3'UTR	NM_002629.2	NP_002620.1	P18669	PGAM1_HUMAN	phosphoglycerate mutase 1 (brain)	20	84	0	116	125	Pro-rich.				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			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		CCACCACCTCCGATGGAGCCC	0.527000													1	1	1	1	1	1	0.999999	21	89	0	84	0	0	0	1	0	84	5
BTRC	8945	broad.mit.edu	37	10	103190192	103190192	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:103190192G>A	ENST00000370187.3	+	2	257	c.139G>A	c.(139-141)Gca>Aca	p.A47T	BTRC_ENST00000408038.2_Intron|BTRC_ENST00000393441.4_Missense_Mutation_p.A32T	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	26	42	0	57	47					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AGGGACTGGCGCACTCACAGC	0.537000													1	0	1	1	1	1	1.000000	32	46	0	63	1	9.930826e-01	8	7	0	63	4
OBFC1	79991	broad.mit.edu	37	10	105657468	105657468	+	Silent	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:105657468G>A	ENST00000224950.3	-	7	758	c.591C>T	c.(589-591)ggC>ggT	p.G197G	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Silent_p.G197G	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	31	109	0	99	197					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GGTCCAGGGCGCCTGGATTGC	0.453000													1	1	1	1	1	1	1.000000	36	115	0	112	1	9.999999e-01	22	71	0	112	5
TACC2	10579	broad.mit.edu	37	10	123810033	123810033	+	Silent	SNP	G	G	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr10:123810033G>T	ENST00000369005.1	+	3	454	c.114G>T	c.(112-114)acG>acT	p.T38T	TACC2_ENST00000358010.1_Silent_p.T38T|TACC2_ENST00000515603.1_Silent_p.T38T|TACC2_ENST00000515273.1_Silent_p.T38T|TACC2_ENST00000334433.3_Silent_p.T38T|TACC2_ENST00000513429.1_Silent_p.T38T|TACC2_ENST00000453444.2_Silent_p.T38T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	21	31	0	43	38						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCAGGACACGCCCGGAAGCC	0.577000													1	1	1	1	1	1	1.000000	21	33	0	50	0	0	0	0	0	50	5
OR6A2	8590	broad.mit.edu	37	11	6816677	6816677	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:6816677C>G	ENST00000332601.3	-	1	451	c.263G>C	c.(262-264)gGa>gCa	p.G88A		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	47	40	0	94	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTGTTTGGATCCAACAAAGCC	0.463000													1	1	1	1	1	1	1.000000	50	42	0	104	0	0	0	0	0	104	5
COPB1	1315	broad.mit.edu	37	11	14490350	14490350	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:14490350C>T	ENST00000249923.3	-	16	2322	c.2022G>A	c.(2020-2022)atG>atA	p.M674I	COPB1_ENST00000439561.2_Missense_Mutation_p.M674I	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	37	147	0	165	674					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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAGTTAGTTGCATGAAGGAAA	0.398000													1	1	1	1	1	1	1.000000	39	159	0	191	1	1	76	227	0	191	5
OR4D9	390199	broad.mit.edu	37	11	59282485	59282485	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:59282485G>T	ENST00000329328.3	+	1	100	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	50	101	0	126	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CCTGTTTTTGGTGTACATGAC	0.438000													1	1	1	1	1	1	1.000000	53	103	0	134	0	0	0	0	0	134	5
TMEM132A	54972	broad.mit.edu	37	11	60694716	60694716	+	Silent	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:60694716G>A	ENST00000005286.4	+	2	294	c.141G>A	c.(139-141)ccG>ccA	p.P47P	TMEM132A_ENST00000453848.2_Silent_p.P47P	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	31	103	0	139	47						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TCTACCTGCCGGCAGCCCTGG	0.632000													1	1	1	1	1	1	1.000000	37	115	0	158	1	1	39	110	0	158	5
CCDC88B	283234	broad.mit.edu	37	11	64109583	64109583	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:64109583G>A	ENST00000356786.5	+	8	837	c.793G>A	c.(793-795)Gct>Act	p.A265T	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	17	9	0	31	265					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAACGCCAAGGCTCAGCTGCG	0.677000													1	1	1	1	1	1	0.999999	17	9	0	32	0	7.019704e-01	0	3	0	32	5
DPY19L2	283417	broad.mit.edu	37	12	63974461	63974461	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:63974461G>C	ENST00000324472.4	-	19	2064	c.1881C>G	c.(1879-1881)atC>atG	p.I627M	DPY19L2_ENST00000413230.2_Missense_Mutation_p.I74M	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	20	100	0	62	627					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TACTGTATTTGATCCACTGTA	0.318000													1	1	1	1	1	1	0.999999	21	113	0	66	0	8.386657e-01	1	19	0	66	5
DPY19L2	283417	broad.mit.edu	37	12	63974520	63974520	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:63974520G>C	ENST00000324472.4	-	19	2005	c.1822C>G	c.(1822-1824)Caa>Gaa	p.Q608E	DPY19L2_ENST00000413230.2_Missense_Mutation_p.Q55E	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	15	93	0	61	608					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATGCTCCATTGATTACGGAGG	0.373000													1	1	1	1	1	1	0.999957	16	95	0	61	0	0	1	0	0	61	5
DPY19L2	283417	broad.mit.edu	37	12	63974572	63974572	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:63974572G>C	ENST00000324472.4	-	19	1953	c.1770C>G	c.(1768-1770)atC>atG	p.I590M	DPY19L2_ENST00000413230.2_Missense_Mutation_p.I37M	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	18	77	0	55	590					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAATGCCAAAGATAACCTTCT	0.373000													1	1	1	1	1	1	0.999995	19	83	0	57	1	8.845243e-01	3	16	0	57	5
NAV3	89795	broad.mit.edu	37	12	78362441	78362441	+	Silent	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:78362441G>A	ENST00000397909.2	+	5	803	c.630G>A	c.(628-630)tcG>tcA	p.S210S	NAV3_ENST00000228327.6_Silent_p.S210S|NAV3_ENST00000536525.2_Silent_p.S210S|NAV3_ENST00000266692.7_Silent_p.S210S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	18	34	0	41	210			S -> W (in dbSNP:rs34195711).			nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCCTCCATCGGAAGCCAGCC	0.458000										HNSCC(70;0.22)			1	1	1	1	1	1	0.999998	19	35	0	45	0	0	0	0	0	45	5
MYBPC1	4604	broad.mit.edu	37	12	102046898	102046898	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:102046898C>A	ENST00000549145.1	+	17	1703	c.1603C>A	c.(1603-1605)Cct>Act	p.P535T	MYBPC1_ENST00000361685.2_Missense_Mutation_p.P547T|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P522T|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P522T|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P522T|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P522T|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P509T|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P547T|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P423T|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P503T|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P510T|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P522T|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P522T|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000547405.1_Missense_Mutation_p.P496T|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P508T			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	24	18	0	42	522	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TCTAGATCCTCCTAAGATCAT	0.413000													1	1	1	1	1	1	1.000000	26	19	0	43	0	0	0	0	0	43	5
AL021546.6	0	broad.mit.edu	37	12	120876300	120876300	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:120876300C>T	ENST00000551806.1	+	2	151	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	COX6A1_ENST00000229379.2_Silent_p.Y74Y						74	71	0	166																		TCATCGCCTACCCCCATCTCC	0.547000													1	1	1	1	1	1	1.000000	81	79	0	192	0	0	0	1	0	192	5
ULK1	8408	broad.mit.edu	37	12	132405699	132405699	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr12:132405699C>T	ENST00000321867.4	+	27	3367	c.3016C>T	c.(3016-3018)Cgc>Tgc	p.R1006C	ULK1_ENST00000540647.1_Missense_Mutation_p.R251C	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	20	39	0	67	1006					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	p.R1006C(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	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)		CTGCGTCCCACGCTACCACAA	0.672000													1	1	1	1	1	1	1.000000	21	42	0	73	1	9.999999e-01	25	46	0	73	5
TRMT5	57570	broad.mit.edu	37	14	61447758	61447758	+	Translation_Start_Site	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr14:61447758G>C	ENST00000261249.6	-	0	318				RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	33	26	0	54							cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		CTCCGGTACCGATCGGATGTG	0.637000													1	0	1	1	1	1	1.000000	35	28	0	54	1	9.998746e-01	9	8	0	54	4
ZFP36L1	677	broad.mit.edu	37	14	69256296	69256296	+	Nonsense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr14:69256296G>C	ENST00000439696.2	-	2	1272	c.971C>G	c.(970-972)tCa>tGa	p.S324*	ZFP36L1_ENST00000336440.3_Nonsense_Mutation_p.S324*|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	104	86	0	197	324					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAGGCGTCTTGAGTTGTCCAA	0.607000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	109	91	0	210	1	1	444	263	0	210	5
DYNC1H1	1778	broad.mit.edu	37	14	102455116	102455116	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr14:102455116A>G	ENST00000360184.4	+	10	2959	c.2795A>G	c.(2794-2796)gAt>gGt	p.D932G		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	43	30	1	64	932	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			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAAGCTGAAGATAAAGCAGAA	0.458000													1	0	1	1	1	1	1.000000	45	31	1	66	1	9.965758e-01	6	4	1	66	4
PML	5371	broad.mit.edu	37	15	74336610	74336610	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr15:74336610G>C	ENST00000565898.1	+	8	1850	c.1766G>C	c.(1765-1767)cGc>cCc	p.R589P	PML_ENST00000268058.3_Missense_Mutation_p.R637P			P29590	PML_HUMAN	promyelocytic leukemia	25	94	0	140	637					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|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 heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGCAAGTTCCGCGTGGTCATC	0.612000			T	RARA, PAX5	APL, ALL								1	1	1	1	1	1	1.000000	27	98	0	151	1	9.833577e-01	3	24	0	151	5
DNAJA2	10294	broad.mit.edu	37	16	46993254	46993254	+	Silent	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr16:46993254G>A	ENST00000317089.5	-	7	1067	c.852C>T	c.(850-852)ttC>ttT	p.F284F		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	45	46	0	92	284					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				GCTTAAATGTGAACTGAAATC	0.368000													1	1	1	1	1	1	1.000000	48	52	0	100	1	1	60	70	0	100	5
HP	3240	broad.mit.edu	37	16	72094680	72094680	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr16:72094680C>G	ENST00000355906.5	+	7	1170	c.1112C>G	c.(1111-1113)gCg>gGg	p.A371G	HPR_ENST00000356967.5_Intron|HP_ENST00000565574.1_Missense_Mutation_p.A312G|HP_ENST00000562526.1_3'UTR|HP_ENST00000570083.1_Missense_Mutation_p.A312G|HP_ENST00000398131.2_Missense_Mutation_p.A312G	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	38	153	0	136	371	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			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ACCTGGTATGCGACTGGGATC	0.522000													1	1	1	1	1	1	1.000000	40	165	0	145	0	8.185007e-01	0	15	0	145	5
TP53	7157	broad.mit.edu	37	17	7578236	7578236	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:7578236A>T	ENST00000420246.2	-	6	745	c.613T>A	c.(613-615)Tat>Aat	p.Y205N	TP53_ENST00000269305.4_Missense_Mutation_p.Y205N|TP53_ENST00000359597.4_Missense_Mutation_p.Y205N|TP53_ENST00000413465.2_Missense_Mutation_p.Y205N|TP53_ENST00000445888.2_Missense_Mutation_p.Y205N|TP53_ENST00000455263.2_Missense_Mutation_p.Y205N|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	46	6	0	67	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y205D(13)|p.0?(8)|p.Y205N(8)|p.?(5)|p.Y205H(5)|p.Y112N(2)|p.Y73N(2)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TCATCCAAATACTCCACACGC	0.542000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	51	7	0	75	1	1	91	12	0	75	5
PFAS	5198	broad.mit.edu	37	17	8157385	8157385	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:8157385G>A	ENST00000314666.6	+	2	263	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	47	63	1	139	44					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTGCTACAACGTGAACTGGAC	0.602000													1	0	1	1	1	1	1.000000	55	74	1	159	0	9.432683e-01	1	8	1	159	4
TMEM132E	124842	broad.mit.edu	37	17	32963037	32963037	+	Silent	SNP	G	G	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr17:32963037G>A	ENST00000321639.5	+	9	2047	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	8	7	0	14	573						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGGTGTCTCCGCTGACGGAGG	0.652000													0	1	1	1	1	1	0.995588	8	8	0	16	1	9.551487e-01	5	4	0	16	4
DSC3	1825	broad.mit.edu	37	18	28588282	28588282	+	Silent	SNP	G	G	A	rs138254140		TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr18:28588282G>A	ENST00000434452.1	-	10	1627	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	DSC3_ENST00000360428.4_Silent_p.N491N	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	9	16	0	37	491	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.N491N(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCTTATAGCCGTTGATCTTTG	0.388000													1	1	0	1	1	1	0.998557	10	18	0	38	0	4.637097e-01	0	4	0	38	4
DTNA	1837	broad.mit.edu	37	18	32409007	32409007	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr18:32409007C>T	ENST00000315456.6	+	13	1421	c.1097C>T	c.(1096-1098)tCg>tTg	p.S366L	DTNA_ENST00000399097.3_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000269191.6_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000444659.1_Intron|DTNA_ENST00000399113.3_Intron|DTNA_ENST00000554864.3_Missense_Mutation_p.S363L|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000598774.1_Intron	NM_001392.4	NP_001383.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	23	28	0	76	366					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CATTTCAGCTCGGACGGTGCT	0.398000													1	1	1	1	1	1	1.000000	24	34	0	89	1	9.999999e-01	15	36	0	89	5
ZNF407	55628	broad.mit.edu	37	18	72343750	72343750	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr18:72343750T>A	ENST00000299687.5	+	1	775	c.775T>A	c.(775-777)Ttg>Atg	p.L259M	ZNF407_ENST00000582337.1_Missense_Mutation_p.L259M|ZNF407_ENST00000309902.6_Missense_Mutation_p.L259M|ZNF407_ENST00000577538.1_Missense_Mutation_p.L259M	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	39	58	0	104	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGAAAACTTGTTGAATGCACA	0.413000													1	1	1	1	1	1	1.000000	40	61	0	109	1	1.607543e-01	2	0	0	109	5
MAG	4099	broad.mit.edu	37	19	35804291	35804291	+	Silent	SNP	G	G	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr19:35804291G>T	ENST00000392213.3	+	11	1974	c.1815G>T	c.(1813-1815)cgG>cgT	p.R605R	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Silent_p.R580R	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	105	72	0	95	605					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	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)			TGGGGAAACGGCCCACCAAGG	0.642000													1	1	1	1	1	1	1.000000	114	75	0	104	0	0	1	0	0	104	5
SIPA1L3	23094	broad.mit.edu	37	19	38633333	38633333	+	Nonsense_Mutation	SNP	C	C	G			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr19:38633333C>G	ENST00000222345.6	+	12	4025	c.3516C>G	c.(3514-3516)taC>taG	p.Y1172*		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	322	248	0	324	1172					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACGTGAGATACAAGCCATCCC	0.567000											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	339	268	0	349	1	9.999993e-01	9	13	0	349	5
SYCP2	10388	broad.mit.edu	37	20	58489052	58489052	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr20:58489052C>A	ENST00000357552.3	-	12	1033	c.808G>T	c.(808-810)Ggc>Tgc	p.G270C	SYCP2_ENST00000371001.2_Missense_Mutation_p.G270C			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	10	10	0	24	270					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CCAAGCATGCCATTTACAAGG	0.299000													1	1	1	1	1	1	0.998919	10	12	0	27	0	0	0	1	0	27	5
GABPA	2551	broad.mit.edu	37	21	27141432	27141432	+	Silent	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr21:27141432C>T	ENST00000354828.3	+	10	1781	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V	GABPA_ENST00000400075.3_Silent_p.V418V	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	35	114	0	130	418					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			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						ACCGTTTGGTCACAGAATGTG	0.443000													1	1	1	1	1	1	1.000000	36	119	0	122	1	7.135757e-01	2	8	0	122	5
LSS	4047	broad.mit.edu	37	21	47614430	47614430	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr21:47614430C>T	ENST00000397728.3	-	20	2041	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T	LSS_ENST00000356396.4_Missense_Mutation_p.A655T|LSS_ENST00000457828.2_Missense_Mutation_p.A575T|LSS_ENST00000522411.1_Missense_Mutation_p.A644T	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	22	31	0	53	655					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCCATCATGGCCCAGCATGTG	0.637000													1	1	1	1	1	1	1.000000	22	32	0	60	1	1	54	67	0	60	5
TBC1D25	4943	broad.mit.edu	37	X	48418348	48418348	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chrX:48418348C>A	ENST00000376771.4	+	6	1393	c.1052C>A	c.(1051-1053)gCc>gAc	p.A351D	TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Missense_Mutation_p.A97D	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	27	10	0	59	351	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.A351G(1)		large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GAGGGCCATGCCTTTGTTTGC	0.582000													1	1	1	1	1	1	1.000000	27	10	0	60	1	1	31	2	0	60	5
HCFC1	3054	broad.mit.edu	37	X	153230117	153230117	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chrX:153230117T>C	ENST00000310441.7	-	2	1220	c.254A>G	c.(253-255)tAt>tGt	p.Y85C	HCFC1_ENST00000354233.3_Missense_Mutation_p.Y85C|HCFC1_ENST00000369984.4_Missense_Mutation_p.Y85C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	60	17	0	174	85					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			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	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)					CACGAAGCCATAGGCTGCACA	0.582000											OREG0003629	type=REGULATORY REGION|Gene=HCFC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1	1	1	1	1	1	1.000000	61	18	0	177	1	9.999821e-01	10	1	0	177	5
F2	2147	broad.mit.edu	37	11	46740793	46740794	+	Frame_Shift_Ins	INS	-	-	CGTC			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr11:46740793_46740794insCGTC	ENST00000311907.5	+	1	64_65	c.8_9insCGTC	c.(7-9)cgtfs	p.R3fs	F2_ENST00000530231.1_Frame_Shift_Ins_p.R3fs	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	40	9	0	52	3					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			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		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)	ACTATGGCGCACGTCCGAGGCT	0.579000													1	1	1	1	0	1	1.000000	40	51	0	52							4
WFDC8	90199	broad.mit.edu	37	20	44180764	44180764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NA-A4QV-01A-11D-A28R-08	TCGA-NA-A4QV-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8598452d-d3c0-4c2e-b090-53cba35fb1dc	35e196fa-e68d-4353-b327-f166bcea7ced	g.chr20:44180764delG	ENST00000357199.4	-	6	705	c.627delC	c.(625-627)acfs	p.T209fs	WFDC8_ENST00000289953.2_Frame_Shift_Del_p.T209fs	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	55	67	0	77	209	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				TATCAATCTTGGTACATAGCA	0.433000													1	1	1	1	0	1	1.000000	55	123	0	79							4
UBR4	23352	broad.mit.edu	37	1	19493718	19493718	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:19493718C>G	ENST00000375267.2	-	29	3910	c.3907G>C	c.(3907-3909)Gat>Cat	p.D1303H	UBR4_ENST00000375254.3_Missense_Mutation_p.D1303H|UBR4_ENST00000375217.2_Missense_Mutation_p.D1303H|UBR4_ENST00000375226.2_Missense_Mutation_p.D1303H			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	20	26	0	51	1303					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		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)		TTCATCTCATCTGACCAACTT	0.458000													1	1	1	1	1	1	1.000000	20	26	0	54	1	9.940810e-01	5	10	0	54	5
GBP5	115362	broad.mit.edu	37	1	89730615	89730615	+	Silent	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:89730615G>A	ENST00000343435.5	-	8	1439	c.903C>T	c.(901-903)gcC>gcT	p.A301A	GBP5_ENST00000370459.3_Silent_p.A301A|GBP5_ENST00000481145.1_5'UTR|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	23	42	0	72	301						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CACTGCTGATGGCATTGACAT	0.443000													1	1	1	1	1	1	1.000000	25	46	0	81	0	2.928249e-01	0	3	0	81	5
HIPK1	204851	broad.mit.edu	37	1	114483989	114483989	+	Silent	SNP	C	C	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:114483989C>A	ENST00000369558.1	+	2	1216	c.984C>A	c.(982-984)cgC>cgA	p.R328R	HIPK1_ENST00000426820.2_Silent_p.R328R|HIPK1_ENST00000369554.2_Silent_p.R328R|HIPK1_ENST00000369559.4_Silent_p.R328R|HIPK1_ENST00000369561.4_Silent_p.R328R|HIPK1_ENST00000369555.2_Silent_p.R328R			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	21	100	0	143	328	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	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)		ATCCAGTTCGCCAGCCCTACC	0.502000													1	1	1	1	1	1	1.000000	26	112	0	153	1	8.284449e-01	3	13	0	153	5
OTUD7B	56957	broad.mit.edu	37	1	149916917	149916917	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:149916917C>A	ENST00000369135.3	-	12	1665	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	28	45	0	110	457					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	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)			TGGACCGGGGCTCATCTCCAG	0.622000													1	1	1	1	1	1	1.000000	28	46	0	115	1	9.954718e-01	7	10	0	115	5
CR1	1378	broad.mit.edu	37	1	207751246	207751246	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:207751246G>A	ENST00000367049.4	+	29	4634	c.4634G>A	c.(4633-4635)tGc>tAc	p.C1545Y	CR1_ENST00000367052.1_Missense_Mutation_p.C1095Y|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.C1095Y|CR1_ENST00000367051.1_Missense_Mutation_p.C1095Y|CR1_ENST00000400960.2_Missense_Mutation_p.C1095Y|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	8	223	0	222	1095	Sushi 24.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACCTACCGCTGCAATCTTGGA	0.522000													1	0	1	1	0	1	0.989712	8	233	0	230	0	0	0	0	0	230	3
ITPKB	3707	broad.mit.edu	37	1	226827357	226827357	+	Silent	SNP	T	T	C			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:226827357T>C	ENST00000429204.1	-	6	2781	c.2454A>G	c.(2452-2454)aaA>aaG	p.K818K	ITPKB_ENST00000272117.3_Silent_p.K818K	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	18	37	0	50	818							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGCCGTCTTCTTTCTGAGAAA	0.567000													1	1	1	1	1	1	0.999995	18	39	0	56	0	8.939076e-01	1	10	0	56	5
OR2G6	391211	broad.mit.edu	37	1	248685017	248685017	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr1:248685017G>A	ENST00000343414.4	+	1	102	c.70G>A	c.(70-72)Gag>Aag	p.E24K		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	53	45	0	137	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)			GCCTCAGCTAGAGAGGTTTCT	0.463000													1	1	1	1	1	1	1.000000	57	49	0	156	0	0	0	0	0	156	5
DPP10	57628	broad.mit.edu	37	2	116572463	116572463	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr2:116572463T>A	ENST00000410059.1	+	20	2275	c.1795T>A	c.(1795-1797)Ttt>Att	p.F599I	DPP10_ENST00000393147.2_Missense_Mutation_p.F603I|DPP10_ENST00000310323.8_Missense_Mutation_p.F592I|DPP10_ENST00000409163.1_Missense_Mutation_p.F549I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	33	117	0	126	599					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.F592I(1)|p.F599I(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGTAGCAAGATTTGATGGCAG	0.423000													1	1	1	1	1	1	1.000000	34	123	0	133	0	0	0	0	0	133	5
SPHKAP	80309	broad.mit.edu	37	2	228860403	228860403	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr2:228860403G>A	ENST00000392056.3	-	8	4502	c.4456C>T	c.(4456-4458)Ctt>Ttt	p.L1486F	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L1486F	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	7	46	0	58	1486						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		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)		CTGGTATCAAGGCTGTCACTG	0.532000													1	1	1	1	1	1	0.991190	8	48	0	60	0	1.220741e-01	1	3	0	60	5
ZNF654	55279	broad.mit.edu	37	3	88189976	88189976	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr3:88189976C>T	ENST00000309495.5	+	1	1723	c.1516C>T	c.(1516-1518)Ccc>Tcc	p.P506S	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	14	58	0	112	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		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)		ACCATTGCCTCCCAGTTACCT	0.393000													1	1	1	1	1	1	0.999926	15	66	0	119	1	8.184846e-01	5	11	0	119	5
NCK1	4690	broad.mit.edu	37	3	136664877	136664877	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr3:136664877C>T	ENST00000469404.1	+	2	578	c.487C>T	c.(487-489)Cca>Tca	p.P163S	NCK1_ENST00000288986.2_Missense_Mutation_p.P227S|NCK1_ENST00000481752.1_Missense_Mutation_p.P227S	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	47	47	0	145	227	SH3 2.				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			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TGAAAATGACCCAGAGTGGTG	0.378000													1	1	1	1	1	1	1.000000	48	48	0	149	1	1	46	24	0	149	5
CDH9	1007	broad.mit.edu	37	5	26881650	26881650	+	Silent	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr5:26881650G>A	ENST00000231021.4	-	12	2137	c.1965C>T	c.(1963-1965)aaC>aaT	p.N655N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	31	93	0	129	655					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGGTCACAATGTTGTCCCGGA	0.413000													1	1	1	1	1	1	1.000000	33	98	0	134	0	0	0	0	0	134	5
MCC	4163	broad.mit.edu	37	5	112364641	112364641	+	Missense_Mutation	SNP	G	G	A	rs145982424		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr5:112364641G>A	ENST00000302475.4	-	16	2862	c.2299C>T	c.(2299-2301)Cgg>Tgg	p.R767W	MCC_ENST00000408903.3_Missense_Mutation_p.R957W|MCC_ENST00000515367.2_Missense_Mutation_p.R704W|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	12	175	0	195	767					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			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		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)		CTGTTGGCCCGCTTTAGATCA	0.537000													1	1	1	1	0	1	0.999197	12	203	0	218	0	5.457060e-01	0	31	0	218	4
PCDHGA11	0	broad.mit.edu	37	5	140801920	140801920	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr5:140801920G>A	ENST00000398587.2	+	1	1159	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D376N|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1				5	37	0	53											breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGATCAAGATTCTGGAGA	0.348000													1	1	1	1	0	1	0.941401	5	39	0	54	1	8.810832e-01	2	1	0	54	4
DUSP22	56940	broad.mit.edu	37	6	350858	350858	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:350858G>C	ENST00000344450.5	+	8	988	c.545G>C	c.(544-546)aGa>aCa	p.R182T	DUSP22_ENST00000604971.1_3'UTR|DUSP22_ENST00000419235.2_3'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	11	37	0	87	182					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			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	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)		GCCTTTCTCAGAAGACTGTAA	0.393000													1	1	1	1	1	1	0.999880	14	44	0	98	1	1	57	186	0	98	5
HIST1H2BF	8343	broad.mit.edu	37	6	26200068	26200068	+	Silent	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:26200068G>A	ENST00000359985.1	+	1	321	c.282G>A	c.(280-282)gaG>gaA	p.E94E		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	69	120	1	195	94					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CCTCCAGGGAGATCCAGACGG	0.602000													1	0	1	1	1	1	1.000000	75	130	1	209	0	1.359160e-01	0	2	1	209	4
HLA-B	3106	broad.mit.edu	37	6	31322991	31322991	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:31322991G>A	ENST00000412585.2	-	5	933	c.905C>T	c.(904-906)tCc>tTc	p.S302F		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B	22	51	0	91											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGTGGACTGGGAAGACGGCTC	0.597000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				1	1	1	1	0	1	1.000000	23	55	0	93	1	1	75	789	0	93	4
DOPEY1	23033	broad.mit.edu	37	6	83855292	83855292	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:83855292G>A	ENST00000349129.2	+	25	5851	c.5591G>A	c.(5590-5592)cGt>cAt	p.R1864H	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1855H|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R1845H	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	7	12	0	23	1864					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		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)		GAATTGGTTCGTTCAATCAGT	0.373000													0	0	1	1	0	1	0.987913	7	12	0	24	1	9.708599e-01	4	11	0	24	2
ROS1	6098	broad.mit.edu	37	6	117686832	117686832	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:117686832G>C	ENST00000368508.3	-	19	3083	c.2885C>G	c.(2884-2886)gCt>gGt	p.A962G	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.A957G	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	8	35	0	54	962	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		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)		AAAACTTGAAGCATTTCCTTC	0.393000			T	GOPC, SDC4, SLC34A2, EZR, LRIG3	glioblastoma, NSCLC								1	1	0	1	1	1	0.991505	8	40	0	57	0	0	0	0	0	57	4
NUP43	348995	broad.mit.edu	37	6	150067548	150067548	+	Silent	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr6:150067548G>A	ENST00000340413.2	-	1	160	c.84C>T	c.(82-84)acC>acT	p.T28T	NUP43_ENST00000460354.2_Silent_p.T28T|NUP43_ENST00000463048.3_Intron|NUP43_ENST00000367404.4_Silent_p.T28T|NUP43_ENST00000367403.3_Silent_p.T89T	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	94	130	0	211	28					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			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACGTCTCCGCGGTCTGTAAAC	0.587000											OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	100	136	0	223	1	9.975025e-01	5	11	0	223	5
TNRC18	84629	broad.mit.edu	37	7	5352339	5352339	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr7:5352339G>A	ENST00000399537.4	-	27	8531	c.8183C>T	c.(8182-8184)gCg>gTg	p.A2728V	TNRC18_ENST00000430969.1_Missense_Mutation_p.A2728V			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	6	15	0	91	2728							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGAGGAGGCGCCTGGGGCTG	0.736000													0	0	1	1	0	1	0.973097	6	15	0	46	0	0	0	0	0	46	2
IGF2BP3	10643	broad.mit.edu	37	7	23391160	23391160	+	Silent	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr7:23391160C>T	ENST00000258729.3	-	6	803	c.447G>A	c.(445-447)ttG>ttA	p.L149L	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	19	43	0	86	149	RRM 2.				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			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AGGCTACTTTCAAGGTGAAAT	0.527000													1	1	1	1	1	1	1.000000	23	47	0	93	0	8.413216e-01	1	8	0	93	5
SUMF2	25870	broad.mit.edu	37	7	56140699	56140699	+	Silent	SNP	C	C	G			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr7:56140699C>G	ENST00000434526.2	+	3	322	c.291C>G	c.(289-291)gtC>gtG	p.V97V	SUMF2_ENST00000395435.2_Silent_p.V97V|SUMF2_ENST00000342190.6_Silent_p.V97V|SUMF2_ENST00000437307.2_Silent_p.V78V|SUMF2_ENST00000395436.2_Silent_p.V97V|SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000413756.1_Silent_p.V78V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	10	25	0	59	78						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGGATTTTGTCAGGGAGAAAA	0.478000													1	1	1	1	1	1	0.999111	11	29	0	68	1	9.999994e-01	26	80	0	68	5
AGPAT6	137964	broad.mit.edu	37	8	41467297	41467297	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr8:41467297G>A	ENST00000396987.3	+	4	1286	c.359G>A	c.(358-360)cGg>cAg	p.R120Q	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	121	50	0	118	120					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TACTTTTGCCGGAAAGGAATG	0.443000													1	1	1	1	0	1	1.000000	126	51	0	127	1	1	58	40	0	127	4
FAM135B	51059	broad.mit.edu	37	8	139151238	139151238	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr8:139151238G>T	ENST00000395297.1	-	18	4062	c.3892C>A	c.(3892-3894)Caa>Aaa	p.Q1298K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	16	22	0	71	1298										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	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)			CCTGTTTTTTGGCTTAGTTGG	0.438000										HNSCC(54;0.14)			1	1	1	1	1	1	0.999998	18	23	0	74	0	0	0	0	0	74	5
DENND4C	55667	broad.mit.edu	37	9	19316786	19316786	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:19316786G>A	ENST00000380432.2	+	8	1081	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000602925.1_Missense_Mutation_p.E586K|DENND4C_ENST00000434457.2_Missense_Mutation_p.E586K	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	44	15	0	137	350	dDENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACCAATCACAGAGGCTCCTTC	0.373000													1	1	1	1	0	1	1.000000	46	16	0	151	1	9.762029e-01	3	2	0	151	4
ZCCHC6	79670	broad.mit.edu	37	9	88937264	88937264	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:88937264C>A	ENST00000277141.6	-	15	3295	c.871G>T	c.(871-873)Gat>Tat	p.D291Y	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.D1002Y|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.D1002Y			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	18	8	0	66	1002					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CAGACTTGATCTAAGATATTT	0.343000													1	1	1	1	1	1	1.000000	21	9	0	73	1	9.999295e-01	7	7	0	73	5
TEX10	54881	broad.mit.edu	37	9	103109336	103109336	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:103109336C>T	ENST00000374902.4	-	3	709	c.533G>A	c.(532-534)cGt>cAt	p.R178H	TEX10_ENST00000537512.1_Missense_Mutation_p.R113H|TEX10_ENST00000535814.1_Missense_Mutation_p.R181H	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	18	9	0	63	178						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TATGCTGCTACGGCCAGTAAT	0.413000													1	1	1	1	1	1	1.000000	18	9	0	64	1	1	26	11	0	64	5
CCBL1	883	broad.mit.edu	37	9	131600040	131600040	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr9:131600040G>A	ENST00000436267.2	-	8	922	c.773C>T	c.(772-774)cCc>cTc	p.P258L	CCBL1_ENST00000302586.3_Missense_Mutation_p.P164L|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Missense_Mutation_p.P114L			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	46	6	0	83	164					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			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CAGCTCCATGGGGTCCAGCTG	0.597000													1	1	1	1	1	1	1.000000	52	7	0	94	1	1	13	1	0	94	5
NPY4R	0	broad.mit.edu	37	10	47087186	47087186	+	Missense_Mutation	SNP	G	G	A	rs144429123		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr10:47087186G>A	ENST00000374312.1	+	3	822	c.403G>A	c.(403-405)Gtg>Atg	p.V135M	NPY4R_ENST00000395716.1_Missense_Mutation_p.V135M	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4	42	353	1	309									p.V135M(1)									GCTCGTCCTCGTGGCCCTGGA	0.572000													1	0	1	1	0	1	1.000000	45	389	1	334	0	0	0	0	1	334	3
B4GALNT3	283358	broad.mit.edu	37	12	644395	644395	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr12:644395C>T	ENST00000266383.5	+	2	246	c.233C>T	c.(232-234)cCa>cTa	p.P78L		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	6	29	0	72	78						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	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)			GCTGTGGATCCACACCTCCAG	0.597000													1	0	1	1	1	1	0.969424	6	31	0	85	1	4.832822e-01	2	7	0	85	4
MTMR6	9107	broad.mit.edu	37	13	25848322	25848322	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr13:25848322C>T	ENST00000381801.5	-	2	789	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	MTMR6_ENST00000540661.1_Missense_Mutation_p.E10K	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	22	8	0	37	10						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		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)		TTTACTTGTTCGACCTAAAAG	0.313000													1	1	1	1	1	1	1.000000	24	8	0	39	1	1	9	25	0	39	5
MYCBP2	23077	broad.mit.edu	37	13	77792029	77792029	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr13:77792029G>C	ENST00000407578.2	-	21	3269	c.3003C>G	c.(3001-3003)aaC>aaG	p.N1001K	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N963K|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N963K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	25	85	0	84	963					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGCCGTATGGTTGCTGCCTG	0.378000													1	1	1	1	1	1	1.000000	30	108	0	96	0	1.274027e-01	0	3	0	96	5
SLC10A2	6555	broad.mit.edu	37	13	103710664	103710664	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr13:103710664G>A	ENST00000245312.3	-	2	1042	c.446C>T	c.(445-447)aCc>aTc	p.T149I		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	13	75	0	94	149					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CCACATTTTGGTATAGATAAG	0.483000													1	1	1	1	1	1	0.999671	13	77	0	100	0	0	0	0	0	100	5
OR4K14	122740	broad.mit.edu	37	14	20483158	20483158	+	Silent	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr14:20483158C>T	ENST00000305045.2	-	1	194	c.195G>A	c.(193-195)ggG>ggA	p.G65G		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	15	59	0	52	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAGCTAGGTTCCCCAGCAGGA	0.483000													1	1	1	1	1	1	0.999931	15	59	0	55	0	0	0	0	0	55	5
TTLL5	23093	broad.mit.edu	37	14	76232491	76232491	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr14:76232491G>A	ENST00000298832.9	+	20	2000	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	TTLL5_ENST00000556893.1_Missense_Mutation_p.E150K|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.E613K|TTLL5_ENST00000554510.1_Missense_Mutation_p.E108K	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	12	19	0	44	599					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGAAGATGAAGAACAGGAGGC	0.403000													1	1	1	1	1	1	0.999940	14	20	0	44	1	9.992525e-01	8	16	0	44	5
DYNC1H1	1778	broad.mit.edu	37	14	102506745	102506745	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr14:102506745G>A	ENST00000360184.4	+	63	12027	c.11863G>A	c.(11863-11865)Gag>Aag	p.E3955K	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	20	33	0	50	3955					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			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCAGGCAGACGAGGTGATTGT	0.512000													1	1	1	1	1	1	1.000000	22	36	0	51	1	1	109	213	0	51	5
TLN2	83660	broad.mit.edu	37	15	62942335	62942335	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr15:62942335G>T	ENST00000561311.1	+	4	419	c.189G>T	c.(187-189)tgG>tgT	p.W63C	TLN2_ENST00000306829.6_Missense_Mutation_p.W63C			Q9Y4G6	TLN2_HUMAN	talin 2	40	6	0	119	63					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			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAGGGATTTGGCTGGAAGCGG	0.478000													1	1	1	1	1	1	1.000000	41	6	0	136	1	1	15	2	0	136	5
MAN2C1	4123	broad.mit.edu	37	15	75653473	75653473	+	Silent	SNP	G	G	C			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr15:75653473G>C	ENST00000565683.1	-	12	1385	c.1374C>G	c.(1372-1374)ctC>ctG	p.L458L	MAN2C1_ENST00000569482.1_Silent_p.L458L|MAN2C1_ENST00000267978.5_Silent_p.L458L|MAN2C1_ENST00000563622.1_Silent_p.L359L	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	12	3	0	27	458					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CAAAGCCAAAGAGGAAGGCAC	0.647000													1	1	1	1	1	1	0.999968	12	3	0	29	1	1	87	5	0	29	5
RPL3L	6123	broad.mit.edu	37	16	1995899	1995899	+	Silent	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr16:1995899G>A	ENST00000268661.7	-	8	1078	c.984C>T	c.(982-984)aaC>aaT	p.N328N		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	22	43	0	95	328					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TGACGAAGTCGTTGTTCACTT	0.612000													1	1	1	1	0	1	1.000000	23	49	0	106	1	9.003681e-01	2	9	0	106	4
POLR2A	5430	broad.mit.edu	37	17	7414885	7414885	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:7414885A>G	ENST00000322644.6	+	24	4478	c.4079A>G	c.(4078-4080)aAt>aGt	p.N1360S		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	15	3	0	33	1360					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|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|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCACGTCCAATGACATTGTG	0.592000													1	1	1	1	1	1	1.000000	17	3	0	37	1	1	134	7	0	37	5
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	36	6	0	81	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	39	6	0	89	1	1	62	11	0	89	5
XYLT2	64132	broad.mit.edu	37	17	48431783	48431783	+	Missense_Mutation	SNP	G	G	A	rs148860176	byFrequency	TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:48431783G>A	ENST00000017003.2	+	3	692	c.643G>A	c.(643-645)Ggc>Agc	p.G215S	XYLT2_ENST00000507602.1_Missense_Mutation_p.G215S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	33	17	0	60	215					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GATGAGCCCCGGCATCCAGTG	0.667000													1	1	1	1	1	1	1.000000	37	18	0	65	1	1	24	28	0	65	5
PPM1E	22843	broad.mit.edu	37	17	57057477	57057477	+	Silent	SNP	C	C	T	rs140315231		TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:57057477C>T	ENST00000308249.2	+	7	1482	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	13	40	0	60	460	PP2C-like.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			AAGTTGTGTCCGACCACCTGA	0.502000													1	1	1	1	1	1	0.999885	14	41	0	65	1	9.590107e-01	7	12	0	65	5
DCXR	51181	broad.mit.edu	37	17	79994778	79994778	+	Silent	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:79994778G>A	ENST00000306869.2	-	3	311	c.262C>T	c.(262-264)Ctg>Ttg	p.L88L	DCXR_ENST00000584318.1_Intron	NM_001195218.1|NM_016286.3	NP_001182147.1|NP_057370.1	Q7Z4W1	DCXR_HUMAN	dicarbonyl/L-xylulose reductase	17	14	0	44	88					D-xylose metabolic process|glucose metabolic process|protein homotetramerization|xylulose metabolic process	membrane	binding|L-xylulose reductase (NADP+) activity			kidney(1)|lung(3)	4	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)			GGCTGCAGCAGGGCGACAGCG	0.687000													1	1	1	1	1	1	1.000000	20	14	0	54	1	1	167	117	0	54	5
SERPINB10	5273	broad.mit.edu	37	18	61585320	61585320	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr18:61585320C>T	ENST00000238508.3	+	4	415	c.356C>T	c.(355-357)aCg>aTg	p.T119M		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10	14	5	0	38									p.T119M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GGAGAGAAAACGTATGCATTT	0.348000													1	1	1	1	1	1	0.999999	16	5	0	40	0	0	0	0	0	40	5
DHPS	1725	broad.mit.edu	37	19	12792434	12792434	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:12792434G>C	ENST00000210060.7	-	1	282	c.147C>G	c.(145-147)ttC>ttG	p.F49L	DHPS_ENST00000351660.5_Missense_Mutation_p.F49L	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	44	8	0	63	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)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	CGGTGGTGCCGAAGGCCTCCA	0.632000													1	1	1	1	1	1	1.000000	45	9	0	68	1	1	104	16	0	68	5
ATP4A	495	broad.mit.edu	37	19	36051399	36051399	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:36051399G>A	ENST00000262623.3	-	6	681	c.653C>T	c.(652-654)gCg>gTg	p.A218V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	57	100	0	111	218					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.A218V(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	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)	GCCCTGGGCCGCCAGGATGCG	0.637000													1	1	1	1	1	1	1.000000	60	104	0	122	0	0	0	0	0	122	5
ZFP14	57677	broad.mit.edu	37	19	36832073	36832073	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:36832073G>A	ENST00000270001.7	-	5	770	c.655C>T	c.(655-657)Cac>Tac	p.H219Y		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	30	144	0	82	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TGAAGTTTGTGATGTCGAATA	0.443000													1	1	1	1	1	1	1.000000	31	149	0	90	1	5.416478e-01	2	8	0	90	5
ZNF781	163115	broad.mit.edu	37	19	38160916	38160916	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:38160916C>T	ENST00000358582.4	-	4	882	c.134G>A	c.(133-135)cGt>cAt	p.R45H	ZNF781_ENST00000590008.1_Missense_Mutation_p.R45H|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	127	98	0	128	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AAGGTGGGCACGCTTTCTAAA	0.383000													1	1	1	1	1	1	1.000000	135	105	0	143	1	1	31	23	0	143	5
CKM	1158	broad.mit.edu	37	19	45811690	45811690	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:45811690G>A	ENST00000221476.3	-	6	928	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	11	46	0	73	252	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	ACGCAGAAGCGGCGGAAAACC	0.597000													1	1	1	1	1	1	0.999728	13	50	0	77	1	1	417	3107	0	77	5
PPP2R1A	5518	broad.mit.edu	37	19	52715983	52715983	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr19:52715983G>A	ENST00000322088.6	+	5	606	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128Q|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4Q	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	91	12	0	113	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen 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	p.R183Q(10)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		ATGGTGCGGCGGGCCGCAGCC	0.617000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	1.000000	96	14	0	118	1	1	483	35	0	118	5
TGM6	343641	broad.mit.edu	37	20	2411210	2411210	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr20:2411210G>T	ENST00000202625.2	+	11	1858	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	TGM6_ENST00000381423.1_Missense_Mutation_p.E599D	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	24	23	0	47	599					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TTCTGGTGGAGAAGGACATTA	0.502000													1	1	1	1	1	1	1.000000	27	25	0	50	0	0	0	0	0	50	5
ATRN	8455	broad.mit.edu	37	20	3614997	3614997	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr20:3614997G>C	ENST00000262919.5	+	26	3971	c.3903G>C	c.(3901-3903)tgG>tgC	p.W1301C		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	11	66	0	76	1301					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTGGTTTGGAAGATCAAAC	0.458000													1	1	1	1	1	1	0.999838	14	76	0	92	1	8.516249e-01	5	16	0	92	5
DIP2A	23181	broad.mit.edu	37	21	47961709	47961709	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr21:47961709C>A	ENST00000318711.7	+	18	2263	c.2080C>A	c.(2080-2082)Ctg>Atg	p.L694M	DIP2A_ENST00000417564.2_Missense_Mutation_p.L693M|DIP2A_ENST00000457905.3_Missense_Mutation_p.L693M|DIP2A_ENST00000466639.1_Missense_Mutation_p.L650M|DIP2A_ENST00000435722.3_Missense_Mutation_p.L693M|DIP2A_ENST00000400274.1_Missense_Mutation_p.L689M|DIP2A_ENST00000427143.2_Missense_Mutation_p.L629M	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	19	31	0	55	693					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	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)		AAAAGCAGTCCTGTCGATGAA	0.488000													1	1	1	1	1	1	0.999999	20	31	0	57	1	9.837613e-01	7	7	0	57	5
ZFR	51663	broad.mit.edu	37	5	32407014	32407015	+	In_Frame_Ins	INS	-	-	GCA			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			-	GCA	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr5:32407014_32407015insGCA	ENST00000265069.8	-	6	998_999	c.896_897insTGC	c.(895-897)gac>gTGCac	p.299_299D>VH		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	8	51	0	37	299	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGGCAgctgttgcagcagcagc	0.480000													0	0	1	0	0	1	0.990878	8	59	0	38	1	9.997344e-01	4	131	0	38	1
HIGD2A	192286	broad.mit.edu	37	5	175816352	175816358	+	Frame_Shift_Del	DEL	GCCCTCA	GCCCTCA	-			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			GCCCTCA	-	GCCCTCA	GCCCTCA		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr5:175816352_175816358delGCCCTCA	ENST00000274787.2	+	2	248_254	c.175_181delGCCCTCA	c.(175-183)ccfs	p.ALT59fs		NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	58	151	0	244	59	HIG1.					integral to membrane				large_intestine(1)	1	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)		CACGGCGGCCGCCCTCACCTACGGCCT	0.657000													1	0	0	1	0	1	1.000000	65	215	0	238	0	1	0	419	0	238	2
ARCN1	372	broad.mit.edu	37	11	118454048	118454050	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			AGA	-	AGA	AGA		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr11:118454048_118454050delAGA	ENST00000359415.4	+	4	710_712	c.545_547delAGA	c.(544-549)gag>g	p.EK182del	ARCN1_ENST00000392859.3_In_Frame_Del_p.EK53del|ARCN1_ENST00000264028.4_In_Frame_Del_p.EK141del|ARCN1_ENST00000534182.2_Intron			P48444	COPD_HUMAN	archain 1	17	22	0	36	141					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	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)		TCTCATGAGGAGAAGGTGTTCAG	0.404000													1	1	1	1	0	1	0.999990	17	38	0	36	1	1	14	156	0	36	4
FAM20A	54757	broad.mit.edu	37	17	66538939	66538955	+	Splice_Site	DEL	AAGTCCAGAATCCTGCA	AAGTCCAGAATCCTGCA	-			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr17:66538939_66538955delAAGTCCAGAATCCTGCA	ENST00000592554.1	-	6	1535_1546	c.812_splice	c.e6-1	p.R273_splice	FAM20A_ENST00000226094.5_5'UTR|PRKAR1A_ENST00000588188.2_Intron	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	26	39	0	77	273						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CACCCGTCGGAAGTCCAGAATCCTGCAAGAGAGGAAG	0.521000													1	1	1	1	0	1	1.000000	29	59	0	70	0	9.729278e-01	0	15	0	70	4
TXN2	25828	broad.mit.edu	37	22	36872876	36872876	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NA-A4QW-01A-11D-A28R-08	TCGA-NA-A4QW-10A-01D-A28U-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	1c486c36-01d0-4ff7-9478-19b0104898b1	c0493785-cc4a-4a03-bc34-0e14e890571b	g.chr22:36872876delC	ENST00000216185.2	-	3	757	c.291delG	c.(289-291)ggfs	p.G97fs	TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000403313.1_Frame_Shift_Del_p.G97fs|TXN2_ENST00000416967.1_5'UTR			Q99757	THIOM_HUMAN	thioredoxin 2	48	140	0	192	97	Thioredoxin.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						CTAACCTCGGCCCCAGGATCT	0.547000													1	1	1	1	0	1	1.000000	48	195	0	195	1	1	11	279	0	195	4
FUCA1	2517	broad.mit.edu	37	1	24186288	24186288	+	Splice_Site	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr1:24186288C>T	ENST00000374479.3	-	4	775	c.768_splice	c.e4+1	p.K256_splice		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	8	27	0	44	256					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		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;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		AATCACATACCTTGACAGGGC	0.413000													1	1	1	1	1	1	0.992231	8	28	0	46	0	9.678343e-01	0	25	0	46	5
C2orf16	84226	broad.mit.edu	37	2	27799908	27799908	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr2:27799908G>A	ENST00000408964.2	+	1	520	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	14	63	0	80	157										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATTTATCACGCCACAGAATC	0.403000													1	1	1	1	1	1	0.999849	14	65	0	82	0	3.613369e-02	1	1	0	82	5
TTN	7273	broad.mit.edu	37	2	179478877	179478877	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr2:179478877A>T	ENST00000589042.1	-	262	49471	c.49247T>A	c.(49246-49248)aTc>aAc	p.I16416N	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I7476N|TTN_ENST00000342175.6_Missense_Mutation_p.I7543N|TTN_ENST00000591111.1_Missense_Mutation_p.I14775N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I13848N|TTN_ENST00000460472.2_Missense_Mutation_p.I7351N|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8	8	0	28	14775	Ig-like 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTATTGGGGATTAATTTGGT	0.433000													1	1	1	1	1	1	0.999238	10	8	0	30	1	7.391304e-01	3	1	0	30	5
TSEN2	80746	broad.mit.edu	37	3	12531437	12531437	+	Silent	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:12531437C>T	ENST00000444864.1	+	2	525	c.138C>T	c.(136-138)aaC>aaT	p.N46N	TSEN2_ENST00000383797.5_Silent_p.N46N|TSEN2_ENST00000402228.3_Silent_p.N46N|TSEN2_ENST00000415684.1_Silent_p.N46N|TSEN2_ENST00000454502.2_Silent_p.N46N|TSEN2_ENST00000314571.7_Silent_p.N46N|TSEN2_ENST00000284995.6_Silent_p.N46N	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	39	52	0	87	46					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(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						AAATGATTAACAACAATGTGA	0.443000													1	1	1	1	1	1	1.000000	43	56	0	93	1	9.997730e-01	12	10	0	93	5
SCN10A	6336	broad.mit.edu	37	3	38738892	38738892	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:38738892A>G	ENST00000449082.2	-	27	5818	c.5819T>C	c.(5818-5820)aTa>aCa	p.I1940T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	24	64	0	90	1940					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				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)	TTCATTTTGTATTGAGCTAGA	0.478000													1	1	1	1	1	1	1.000000	26	69	0	92	0	0	0	1	0	92	5
TIGIT	201633	broad.mit.edu	37	3	114014628	114014628	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:114014628G>A	ENST00000481065.1	+	3	3114	c.499G>A	c.(499-501)Gtg>Atg	p.V167M	TIGIT_ENST00000486257.1_Missense_Mutation_p.V100M|TIGIT_ENST00000383671.3_Missense_Mutation_p.V100M			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	42	49	0	72	100					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GTCGCTGACCGTGAACGATAC	0.567000													1	1	1	1	1	1	1.000000	44	51	0	78	0	0	0	1	0	78	5
COL6A6	131873	broad.mit.edu	37	3	130284093	130284093	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr3:130284093C>T	ENST00000358511.6	+	3	948	c.917C>T	c.(916-918)gCc>gTc	p.A306V	COL6A6_ENST00000453409.2_Missense_Mutation_p.A306V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	49	69	0	107	306	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen		p.A306D(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACTGGGAAGGCCTATACTGGA	0.478000													1	1	1	1	1	1	1.000000	50	69	0	109	0	0	0	1	0	109	5
FBXW7	0	broad.mit.edu	37	4	153247288	153247288	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr4:153247288C>A	ENST00000281708.4	-	10	2743	c.1514G>T	c.(1513-1515)cGc>cTc	p.R505L	FBXW7_ENST00000263981.5_Missense_Mutation_p.R425L|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387L|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	17	47	0	100	505			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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505L(7)|p.R505H(5)|p.R266L(1)|p.R266H(1)|p.?(1)|p.R505P(1)|p.R425H(1)|p.R425L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTGAACACAGCGGACTGCTGC	0.468000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	0.999986	17	51	0	105	1	9.654975e-01	5	15	0	105	5
SLC1A3	6507	broad.mit.edu	37	5	36686177	36686177	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr5:36686177C>T	ENST00000265113.4	+	10	1911	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.R434W	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	30	85	0	89	479					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	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)	GGATCGCCTCCGGACCACCAC	0.552000													1	1	1	1	1	1	1.000000	30	89	0	90	1	9.810646e-01	6	16	0	90	5
PCDHB10	0	broad.mit.edu	37	5	140573707	140573707	+	Nonsense_Mutation	SNP	G	G	T	rs17844576		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr5:140573707G>T	ENST00000239446.4	+	1	1766	c.1582G>T	c.(1582-1584)Gag>Tag	p.E528*		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		21	328	0	370	528	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGCTTTCGAGTTCCGCGT	0.692000													1	0	1	1	0	1	0.999999	22	345	0	367	0	6.772051e-02	0	7	0	367	3
FTSJ2	29960	broad.mit.edu	37	7	2274828	2274828	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:2274828T>C	ENST00000242257.8	-	3	698	c.670A>G	c.(670-672)Agg>Ggg	p.R224G	FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000407040.1_Missense_Mutation_p.R130G|FTSJ2_ENST00000486040.1_5'UTR	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	34	63	0	91	224					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		GACTCTTTCCTGCTGGCTTCA	0.468000													1	1	1	1	1	1	1.000000	34	67	0	103	1	1	57	57	0	103	5
FAM188B	84182	broad.mit.edu	37	7	30921881	30921881	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:30921881C>T	ENST00000265299.6	+	16	2134	c.2057C>T	c.(2056-2058)cCg>cTg	p.P686L	AQP1_ENST00000434909.2_Missense_Mutation_p.P32L|AQP1_ENST00000509504.1_Missense_Mutation_p.P149L|INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	33	40	0	96	686										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCTGCAGCCGGGGCTCCTG	0.592000													1	1	1	1	1	1	1.000000	35	40	0	98	1	9.990498e-01	2	15	0	98	5
NCF1	653361	broad.mit.edu	37	7	74197924	74197924	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:74197924G>C	ENST00000289473.4	+	7	701	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	15	55	0	92	211	Asp/Glu-rich (highly acidic).|SH3 1.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						GTCCTTCCTCGAGCCCCTGGA	0.637000													1	0	1	1	1	1	0.999992	18	67	0	104	0	4.686343e-01	0	7	0	104	4
SLC25A13	10165	broad.mit.edu	37	7	95775911	95775911	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:95775911G>A	ENST00000416240.2	-	14	1602	c.1412C>T	c.(1411-1413)gCt>gTt	p.A471V	SLC25A13_ENST00000542654.1_Missense_Mutation_p.A362V|SLC25A13_ENST00000265631.5_Missense_Mutation_p.A470V	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	73	129	0	241	470					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GACAGACAGAGCACTGACTCG	0.433000													1	1	1	1	1	1	1.000000	80	147	0	277	1	1	34	23	0	277	5
OCM2	4951	broad.mit.edu	37	7	97617777	97617777	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr7:97617777G>A	ENST00000257627.4	-	2	236	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	36	62	0	131	49	EF-hand 1.						calcium ion binding			lung(4)	4						TCTATGAACCGGAAAACATCC	0.507000													1	1	1	1	1	1	1.000000	38	63	0	135	0	0	0	0	0	135	5
HIATL1	84641	broad.mit.edu	37	9	97218544	97218544	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr9:97218544G>A	ENST00000375344.3	+	10	1320	c.1051G>A	c.(1051-1053)Gtg>Atg	p.V351M	HIATL1_ENST00000428393.2_Intron	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	29	25	0	59	351					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				AGCAGGGACCGTGGCTGCCAT	0.562000													1	1	1	1	1	1	1.000000	34	27	0	70	1	1	45	32	0	70	5
CTBP2	1488	broad.mit.edu	37	10	126692042	126692042	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr10:126692042C>T	ENST00000309035.6	-	2	1828	c.1698G>A	c.(1696-1698)atG>atA	p.M566I	CTBP2_ENST00000337195.5_Missense_Mutation_p.M26I|CTBP2_ENST00000531469.1_Missense_Mutation_p.M26I|CTBP2_ENST00000411419.2_Missense_Mutation_p.M26I|CTBP2_ENST00000494626.2_Missense_Mutation_p.M26I|CTBP2_ENST00000334808.6_Missense_Mutation_p.M94I	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	9	14	0	51	26					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			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		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)		GGGGGCCGTTCATGATCTGGG	0.687000													1	1	1	1	1	1	0.997267	9	14	0	55	1	9.999993e-01	51	27	0	55	5
HEATR5A	25938	broad.mit.edu	37	14	31817004	31817004	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr14:31817004T>C	ENST00000543095.2	-	19	3002	c.2818A>G	c.(2818-2820)Att>Gtt	p.I940V	HEATR5A_ENST00000404677.3_Missense_Mutation_p.I940V|HEATR5A_ENST00000389961.3_Missense_Mutation_p.I934V|HEATR5A_ENST00000439348.1_Missense_Mutation_p.I934V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.I647V	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	10	7	0	16	934							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	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)		AGGATTCCAATACAAGAATTT	0.428000													1	1	1	1	0	1	0.999238	10	8	0	19	1	9.898051e-01	5	6	0	19	4
CKMT1B	1159	broad.mit.edu	37	15	43891378	43891378	+	Silent	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr15:43891378C>T	ENST00000300283.6	+	10	1553	c.1161C>T	c.(1159-1161)atC>atT	p.I387I	CKMT1B_ENST00000441322.1_Silent_p.I387I	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	74	66	0	202	387	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		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;3.56e-07)	Creatine(DB00148)	AACTGGTCATCGATGGAGTAA	0.473000													1	1	1	1	1	1	1.000000	81	71	0	205	0	0	0	0	0	205	5
DNASE1	1773	broad.mit.edu	37	16	3707025	3707025	+	Silent	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr16:3707025C>T	ENST00000246949.5	+	6	3671	c.462C>T	c.(460-462)ccC>ccT	p.P154P	DNASE1_ENST00000414110.2_Intron|DNASE1_ENST00000407479.1_Silent_p.P154P	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	6	33	0	40	154			P -> A (in allele DNASE1*3; dbSNP:rs1799891).		apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	CCATTGTTCCCCTGCATGCGG	0.602000													1	1	1	1	1	1	0.983838	7	35	0	41	1	9.659427e-01	11	21	0	41	5
NFATC3	4775	broad.mit.edu	37	16	68200785	68200785	+	Silent	SNP	T	T	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr16:68200785T>C	ENST00000349223.5	+	5	1865	c.1641T>C	c.(1639-1641)gaT>gaC	p.D547D	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.D547D|NFATC3_ENST00000329524.4_Silent_p.D547D|NFATC3_ENST00000575270.1_Silent_p.D547D	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	13	20	0	38	547	RHD.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		GCAATTCAGATATAGAACTTC	0.333000													1	0	1	1	0	1	0.999862	13	20	0	38	1	9.999614e-01	20	19	0	38	3
MYO15A	51168	broad.mit.edu	37	17	18023599	18023599	+	Silent	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr17:18023599G>A	ENST00000205890.5	+	2	1823	c.1485G>A	c.(1483-1485)gtG>gtA	p.V495V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	34	8	0	64	495	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCTGGAGGTGCCCCTGCCAC	0.642000													1	1	1	1	1	1	1.000000	35	10	0	67	0	0	0	0	0	67	5
ZNF573	126231	broad.mit.edu	37	19	38230644	38230644	+	Silent	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:38230644C>T	ENST00000339503.4	-	8	1074	c.573G>A	c.(571-573)caG>caA	p.Q191Q	ZNF573_ENST00000357309.3_Silent_p.Q161Q|ZNF573_ENST00000590414.2_Silent_p.Q249Q|ZNF573_ENST00000392138.1_Silent_p.Q162Q|ZNF573_ENST00000536220.1_Silent_p.Q161Q	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	37	371	0	91	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCCCACACTCCTGACATTCAT	0.428000													1	1	1	1	0	1	1.000000	41	403	0	98	1	2.061384e-01	2	7	0	98	4
PPP2R1A	5518	broad.mit.edu	37	19	52716212	52716212	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:52716212C>T	ENST00000322088.6	+	6	714	c.656C>T	c.(655-657)tCg>tTg	p.S219L	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.S164L|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.S40L	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	130	38	0	64	219	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen 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			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCCTAGGACTCGGTGCGGCTG	0.647000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	1.000000	138	40	0	72	1	1	1190	354	0	72	5
SYNJ1	8867	broad.mit.edu	37	21	34053869	34053869	+	Silent	SNP	G	G	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr21:34053869G>A	ENST00000382499.2	-	11	1406	c.1407C>T	c.(1405-1407)tcC>tcT	p.S469S	SYNJ1_ENST00000433931.2_Silent_p.S469S|SYNJ1_ENST00000382491.3_Silent_p.S430S|SYNJ1_ENST00000357345.3_Silent_p.S430S|SYNJ1_ENST00000322229.7_Silent_p.S430S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	22	60	0	93	430							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.S430S(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CACCATTCACGGACCACATTG	0.398000													1	1	1	1	1	1	1.000000	25	66	0	105	1	1.935701e-01	2	1	0	105	5
SCML2	10389	broad.mit.edu	37	X	18338512	18338512	+	Silent	SNP	C	C	A			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:18338512C>A	ENST00000251900.4	-	6	585	c.426G>T	c.(424-426)ccG>ccT	p.P142P		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	7	15	0	33	142					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AGAGGAACATCGGCCAGGAGG	0.333000													1	1	1	1	1	1	0.993636	8	16	0	34	1	8.348521e-01	9	0	0	34	5
SHROOM4	57477	broad.mit.edu	37	X	50351176	50351176	+	Missense_Mutation	SNP	G	G	A	rs149034742		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:50351176G>A	ENST00000376020.2	-	6	2991	c.2966C>T	c.(2965-2967)gCt>gTt	p.A989V	SHROOM4_ENST00000460112.3_Missense_Mutation_p.A873V|SHROOM4_ENST00000289292.7_Missense_Mutation_p.A989V	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	10	13	0	45	989					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTTGGAATGAGCCATTTCCCT	0.408000													1	1	1	1	1	1	0.999958	14	15	0	51	0	0	0	1	0	51	5
ZC3H12B	340554	broad.mit.edu	37	X	64719785	64719785	+	Silent	SNP	T	T	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:64719785T>C	ENST00000338957.4	+	4	1073	c.1006T>C	c.(1006-1008)Tta>Cta	p.L336L	ZC3H12B_ENST00000423889.3_Silent_p.L325L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	62	87	0	153	325							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGATGATCCATTAGGACGCCA	0.438000													1	1	1	1	1	1	1.000000	72	92	0	166	0	0	0	0	0	166	5
TAZ	6901	broad.mit.edu	37	X	153649045	153649045	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08			G	C	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:153649045G>C	ENST00000299328.5	+	10	1037	c.748G>C	c.(748-750)Gag>Cag	p.E250Q	TAZ_ENST00000369776.4_Missense_Mutation_p.E220Q|TAZ_ENST00000351413.4_Missense_Mutation_p.E236Q|TAZ_ENST00000350743.4_Missense_Mutation_p.E220Q|TAZ_ENST00000369790.4_Missense_Mutation_p.E206Q|TAZ_ENST00000498029.1_3'UTR	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	20	81	0	121	250					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			lung(1)	1	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)					GCCTGTACTCGAGCGGCTCCG	0.647000													1	1	1	1	1	1	1.000000	24	90	0	136	0	9.999692e-01	0	69	0	136	5
SLC10A3	8273	broad.mit.edu	37	X	153716854	153716854	+	Silent	SNP	C	C	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chrX:153716854C>T	ENST00000263512.4	-	2	924	c.426G>A	c.(424-426)ctG>ctA	p.L142L	SLC10A3_ENST00000393586.1_Silent_p.L197L|SLC10A3_ENST00000393587.4_Silent_p.L142L|SLC10A3_ENST00000369649.4_Intron	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	43	70	0	110	142					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	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)					GGAGTGGGGCCAGCCCAGCCA	0.612000													1	1	1	1	1	1	1.000000	44	74	0	113	1	1	71	12	0	113	5
PIK3R1	5295	broad.mit.edu	37	5	67589579	67589596	+	In_Frame_Del	DEL	AAATTACATGAATATAAC	AAATTACATGAATATAAC	-	rs17852841		TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr5:67589579_67589596delAAATTACATGAATATAAC	ENST00000521381.1	+	11	1958_1975	c.1342_1359delAAATTACATGAATATAAC	c.(1342-1359)del	p.KLHEYN448del	PIK3R1_ENST00000523872.1_In_Frame_Del_p.KLHEYN85del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.KLHEYN178del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.KLHEYN448del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.KLHEYN148del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	7	18	0	26	448					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.N453_T454insN(3)|p.H450_E451del(2)|p.L449fs*3(1)|p.Y152N(1)|p.T454_D464del(1)|p.Y452_Q455>SGGSRIK(1)|p.L449S(1)|p.?(1)|p.G446_Y452>VI(1)|p.Y452N(1)|p.T454_Q455>Q(1)|p.E451_Y452del(1)|p.E451_Y452delEY(1)|p.K448_L449>I(1)|p.Y182N(1)|p.453_454insN(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		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)	TGTAGGGAAAAAATTACATGAATATAACACTCAGTTTC	0.266000			Mis, F, O		gliobastoma, ovarian, colorectal					TCGA GBM(4;<1E-08)			0	0	1	1	0	1	0.991943	8	32	0	25	0	9.748095e-01	0	30	0	25	2
IGSF6	10261	broad.mit.edu	37	16	21658474	21658476	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08			CCT	-	CCT	CCT		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr16:21658474_21658476delCCT	ENST00000268389.4	-	2	466_468	c.405_407delAGG	c.(403-408)ggg>gg	p.GG135del	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	32	78	0	100	135					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CAGTGTGGTCCCTCCTCCTGTCT	0.468000													1	1	1	1	0	1	1.000000	32	115	0	103	0	1	0	229	0	103	4
TP53	7157	broad.mit.edu	37	17	7578402	7578403	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr17:7578402_7578403insT	ENST00000420246.2	-	5	659_660	c.527_528insA	c.(526-528)tccfs	p.S176fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.S176fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.S176fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.S176fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.S176fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Ins_p.S176fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	22	11	0	70	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C176F(129)|p.C176Y(63)|p.C176*(12)|p.C176W(11)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.H178fs*69(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.C83*(2)|p.V173fs*59(2)|p.C44*(2)|p.R174fs*1(2)|p.V157_C176del20(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.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.P177fs*4(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.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		CATGGTGGGGGCAGCGCCTCAC	0.649000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	0	1	1.000000	22	33	0	74	1	9.999998e-01	17	37	0	74	4
ZNF211	0	broad.mit.edu	37	19	58152473	58152476	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-NA-A4QX-01A-11D-A28R-08	TCGA-NA-A4QX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d2e39c3-47c6-4241-85b5-17f7793a3afe	f8a81e5f-712b-4863-b8c6-679ccccfb81f	g.chr19:58152473_58152476delCAAA	ENST00000544273.1	+	5	982_985	c.655_658delCAAA	c.(655-660)cafs	p.QT219fs	ZNF211_ENST00000420680.1_Frame_Shift_Del_p.QT211fs|ZNF211_ENST00000240731.4_Frame_Shift_Del_p.QT220fs|ZNF211_ENST00000541801.1_Frame_Shift_Del_p.QT198fs|ZNF211_ENST00000299871.5_Frame_Shift_Del_p.QT272fs|ZNF211_ENST00000254182.7_Frame_Shift_Del_p.QT198fs|ZNF211_ENST00000391703.3_Frame_Shift_Del_p.QT146fs|ZNF211_ENST00000347302.3_Frame_Shift_Del_p.QT207fs			Q13398	ZN211_HUMAN	zinc finger protein 211	19	42	0	65	207						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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)		AGACGCCACTCAAACAGGGGAGAA	0.471000													1	1	1	1	0	1	0.999999	20	55	0	65	0	9.417925e-01	0	16	0	65	4
MYOM3	127294	broad.mit.edu	37	1	24417411	24417411	+	Silent	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:24417411G>A	ENST00000330966.7	-	12	1473	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.G436G|MYOM3_ENST00000374434.3_Silent_p.G436G			Q5VTT5	MYOM3_HUMAN	myomesin 3	58	96	1	153	436	Fibronectin type-III 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		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)		CTTCGACGAGGCCTTGGATTG	0.637000													1	0	1	1	1	1	1.000000	63	105	1	167	0	7.239861e-01	1	5	1	167	4
ARID1A	8289	broad.mit.edu	37	1	27106580	27106580	+	Missense_Mutation	SNP	T	T	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:27106580T>G	ENST00000324856.7	+	20	6562	c.6191T>G	c.(6190-6192)cTc>cGc	p.L2064R	ARID1A_ENST00000374152.2_Missense_Mutation_p.L1681R|ARID1A_ENST00000540690.1_Missense_Mutation_p.L392R|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1847R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	86	104	0	159	2064					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		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		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)		TTGGTTACACTCGCCAACATC	0.557000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC								1	0	1	1	1	1	1.000000	93	113	0	173	1	1	112	100	0	173	4
GRIK3	2899	broad.mit.edu	37	1	37291395	37291395	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:37291395G>C	ENST00000373091.3	-	11	1579	c.1563C>G	c.(1561-1563)atC>atG	p.I521M	GRIK3_ENST00000373093.4_Missense_Mutation_p.I521M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	8	131	0	91	521					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			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GAACATGGGTGATGGTCAGGG	0.542000													1	1	1	1	0	1	0.989996	8	140	0	103	0	1.023713e-01	0	9	0	103	4
HPCAL4	51440	broad.mit.edu	37	1	40148381	40148381	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:40148381C>T	ENST00000372844.3	-	4	794	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	32	57	0	75	135					central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	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)			ATCATGATCACGGTGCCCACC	0.562000													1	1	1	1	1	1	1.000000	33	60	0	84	0	0	0	0	0	84	5
CCDC181	57821	broad.mit.edu	37	1	169391086	169391086	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:169391086A>T	ENST00000545005.1	-	4	1090	c.583T>A	c.(583-585)Ttt>Att	p.F195I	CCDC181_ENST00000367805.3_Missense_Mutation_p.F195I|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.F195I					coiled-coil domain containing 181	38	58	0	67																		TCTTGTCCAAAATCATTGGAA	0.348000													1	1	1	1	1	1	1.000000	38	62	0	69	0	9.332435e-01	0	10	0	69	5
TRIM17	51127	broad.mit.edu	37	1	228595913	228595913	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:228595913C>T	ENST00000366697.2	-	6	2379	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Missense_Mutation_p.V475M|TRIM17_ENST00000366698.2_Missense_Mutation_p.V475M			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	23	124	0	151	475	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TATCCTTTCACCCACATGGTC	0.617000													1	1	1	1	1	1	1.000000	26	142	0	175	1	2.600619e-02	2	0	0	175	5
NT5C1B	93034	broad.mit.edu	37	2	18765801	18765801	+	Silent	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:18765801C>T	ENST00000304081.4	-	4	802	c.702G>A	c.(700-702)ccG>ccA	p.P234P	NT5C1B_ENST00000359846.2_Silent_p.P294P|NT5C1B_ENST00000600945.1_Silent_p.P294P|NT5C1B-RDH14_ENST00000532967.1_Silent_p.P294P	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB	13	14	0	21											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCGAGCAGCTCGGGTTCTTCT	0.687000													1	1	1	1	1	1	0.999947	14	17	0	24	0	0	0	0	0	24	5
ARID5A	10865	broad.mit.edu	37	2	97215506	97215506	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:97215506C>G	ENST00000454558.2	+	4	1249	c.72C>G	c.(70-72)atC>atG	p.I24M	ARID5A_ENST00000357485.3_Missense_Mutation_p.I92M			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	32	56	0	78	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TGTGGAAGATCTACAAAGCAG	0.602000													1	1	1	1	1	1	1.000000	33	62	0	89	1	9.999844e-01	13	26	0	89	5
CCDC141	285025	broad.mit.edu	37	2	179737016	179737016	+	Missense_Mutation	SNP	A	A	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:179737016A>C	ENST00000420890.2	-	13	2040	c.1923T>G	c.(1921-1923)gaT>gaG	p.D641E	CCDC141_ENST00000295723.5_Missense_Mutation_p.D66E	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	14	31	0	34	66							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATTTTTCACATCTAATATCT	0.368000													1	1	1	1	1	1	0.999957	15	32	0	39	0	0	0	0	0	39	5
CLASP2	23122	broad.mit.edu	37	3	33552148	33552148	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr3:33552148T>A	ENST00000399362.4	-	37	4593	c.4240A>T	c.(4240-4242)Aat>Tat	p.N1414Y	CLASP2_ENST00000461133.3_Missense_Mutation_p.N1174Y|CLASP2_ENST00000359576.5_Missense_Mutation_p.N1406Y|CLASP2_ENST00000307312.7_Missense_Mutation_p.N896Y|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000480013.1_Missense_Mutation_p.N1194Y|CLASP2_ENST00000468888.2_Missense_Mutation_p.N1415Y	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	7	14	0	47	1416										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GCAGCCAGATTAATTGGGTAG	0.438000													1	0	1	1	1	1	0.986905	7	15	0	51	1	9.843232e-01	5	16	0	51	4
DHX30	22907	broad.mit.edu	37	3	47889849	47889849	+	Silent	SNP	A	A	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr3:47889849A>G	ENST00000446256.2	+	16	2921	c.2349A>G	c.(2347-2349)caA>caG	p.Q783Q	DHX30_ENST00000445061.1_Silent_p.Q822Q|DHX30_ENST00000457607.1_Silent_p.Q850Q|DHX30_ENST00000348968.4_Silent_p.Q794Q	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	24	43	0	131	822	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGGTGCTGCAAGCGAAAATCC	0.632000													1	1	1	1	1	1	1.000000	30	68	0	151	1	1	23	56	0	151	5
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	266	32	0	55	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(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	278	33	0	60	1	1	141	23	0	60	5
HTT	3064	broad.mit.edu	37	4	3225847	3225847	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr4:3225847C>T	ENST00000355072.5	+	56	7899	c.7754C>T	c.(7753-7755)cCg>cTg	p.P2585L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	42	135	0	164	2585					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			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTCTGTCTCCGGCTACTACA	0.512000													1	1	1	1	1	1	1.000000	44	144	0	185	1	9.982064e-01	8	27	0	185	5
EGFLAM	133584	broad.mit.edu	37	5	38451444	38451444	+	Silent	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr5:38451444C>T	ENST00000322350.5	+	19	2917	c.2571C>T	c.(2569-2571)ttC>ttT	p.F857F	EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000354891.3_Silent_p.F865F|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000397202.2_Silent_p.F223F|EGFLAM_ENST00000336740.6_Silent_p.F623F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	46	111	0	146	865	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAAATGTGTTCATGAGGTTTA	0.468000													1	1	1	1	1	1	1.000000	50	120	0	165	1	9.998473e-01	13	23	0	165	5
GRM4	2914	broad.mit.edu	37	6	34101204	34101204	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:34101204C>T	ENST00000374181.3	-	1	239	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	GRM4_ENST00000538487.1_Missense_Mutation_p.G24S|GRM4_ENST00000374177.3_Intron	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	27	22	0	66	24					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			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	ATCCAGGGGCCGTAAAGGCTG	0.612000													1	1	1	1	1	1	1.000000	30	26	0	70	0	0	1	0	0	70	5
DST	667	broad.mit.edu	37	6	56391251	56391251	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:56391251C>T	ENST00000370754.5	-	69	17943	c.17944G>A	c.(17944-17946)Gta>Ata	p.V5982I	DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.V5693I|DST_ENST00000244364.6_Missense_Mutation_p.V3390I|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.V5478I|DST_ENST00000370788.2_Missense_Mutation_p.V3607I|DST_ENST00000370769.4_Missense_Mutation_p.V5804I|DST_ENST00000421834.2_Missense_Mutation_p.V3716I			Q03001	DYST_HUMAN	dystonin	29	63	0	101	5802					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|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			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTCAGCTACCATTTTCTCA	0.498000													1	1	1	1	1	1	1.000000	29	67	0	109	0	9.585652e-02	1	1	0	109	5
SMAP1	60682	broad.mit.edu	37	6	71501409	71501409	+	Silent	SNP	T	T	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:71501409T>A	ENST00000370455.3	+	5	680	c.432T>A	c.(430-432)gcT>gcA	p.A144A	SMAP1_ENST00000370452.3_Intron|SMAP1_ENST00000316999.5_Intron	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	30	35	0	93	144					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CCTCTGATGCTCCTCTTCAGC	0.403000													1	1	1	1	1	1	1.000000	33	39	0	106	1	9.999871e-01	27	1	0	106	5
INHBA	3624	broad.mit.edu	37	7	41729399	41729399	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:41729399C>T	ENST00000242208.4	-	3	1376	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.R377H	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	60	80	0	134	377				RMR -> AC (in Ref. 7; CAA51163).	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	p.R377H(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCCCCGCATGCGGTAGTGGTT	0.547000										TSP Lung(11;0.080)			1	1	1	1	1	1	1.000000	62	90	0	151	1	9.999988e-01	19	17	0	151	5
ZNF479	90827	broad.mit.edu	37	7	57188629	57188629	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:57188629C>G	ENST00000331162.4	-	5	763	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	9	19	0	43	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTACCAAAGACTTTGACATAT	0.308000													0	0	1	1	0	1	0.996773	9	19	0	31	0	0	0	0	0	31	2
TBL2	26608	broad.mit.edu	37	7	72988397	72988397	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:72988397G>T	ENST00000305632.5	-	3	558	c.317C>A	c.(316-318)gCt>gAt	p.A106D	TBL2_ENST00000432538.1_Missense_Mutation_p.A70D|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Missense_Mutation_p.A106D	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	13	50	0	69	106										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCACAGGTAGCCAGGTATTT	0.577000													1	1	1	1	1	1	0.999715	13	55	0	73	1	9.959284e-01	21	23	0	73	5
MET	0	broad.mit.edu	37	7	116340188	116340188	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:116340188G>T	ENST00000397752.3	+	2	1250	c.1050G>T	c.(1048-1050)aaG>aaT	p.K350N	MET_ENST00000318493.6_Missense_Mutation_p.K350N|MET_ENST00000436117.2_Missense_Mutation_p.K350N	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	25	29	0	33	350	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	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)			CACAAAGCAAGCCAGATTCTG	0.473000			Mis		papillary renal, head-neck squamous cell	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				1	1	1	1	1	1	1.000000	27	30	0	33	1	9.975496e-01	10	5	0	33	5
DOCK5	80005	broad.mit.edu	37	8	25167977	25167977	+	Missense_Mutation	SNP	A	A	T	rs139621203	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr8:25167977A>T	ENST00000276440.7	+	13	1291	c.1247A>T	c.(1246-1248)aAt>aTt	p.N416I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	15	17	0	47	416						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		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)		GTTCAGAAGAATTTTTCACAC	0.423000													1	1	1	1	1	1	0.999991	16	18	0	55	0	0	0	0	0	55	5
UNC5D	137970	broad.mit.edu	37	8	35583958	35583958	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr8:35583958A>G	ENST00000287272.2	+	9	1405	c.1385A>G	c.(1384-1386)cAa>cGa	p.Q462R	UNC5D_ENST00000453357.2_Missense_Mutation_p.Q526R|UNC5D_ENST00000449677.1_Missense_Mutation_p.Q107R|UNC5D_ENST00000420357.1_Missense_Mutation_p.Q464R|UNC5D_ENST00000404895.2_Missense_Mutation_p.Q531R|UNC5D_ENST00000416672.1_Missense_Mutation_p.Q536R			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	26	40	0	99	531					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCCTACATCCAAAATCTGTCA	0.468000													1	1	1	1	1	1	1.000000	27	43	0	102	0	0	0	0	0	102	5
ZFAT	57623	broad.mit.edu	37	8	135524778	135524778	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr8:135524778C>T	ENST00000520727.1	-	15	3564	c.3265G>A	c.(3265-3267)Gtt>Att	p.V1089I	ZFAT_ENST00000523399.1_Missense_Mutation_p.V1039I|ZFAT_ENST00000429442.2_Missense_Mutation_p.V1089I|ZFAT_ENST00000377838.3_Missense_Mutation_p.V1101I|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520214.1_Missense_Mutation_p.V1089I	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	55	321	0	239	1101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	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)			GTCCCTTGAACGTCTTCTTCG	0.532000													1	1	1	1	1	1	1.000000	56	347	0	265	1	9.024822e-01	6	21	0	265	5
ADAMTS13	11093	broad.mit.edu	37	9	136305578	136305578	+	Missense_Mutation	SNP	G	G	A	rs34569244		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr9:136305578G>A	ENST00000371929.3	+	16	2344	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.E306K|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.E634K|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.E603K	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	19	24	0	47	634	Spacer.				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)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGCCCTCACCGAGGACCGGCT	0.647000													1	1	1	1	1	1	0.999999	19	26	0	50	0	0	0	0	0	50	5
KIAA1217	56243	broad.mit.edu	37	10	24762746	24762746	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:24762746G>A	ENST00000376451.2	+	2	850	c.590G>A	c.(589-591)aGt>aAt	p.S197N	KIAA1217_ENST00000458595.1_Missense_Mutation_p.S479N|KIAA1217_ENST00000430453.2_Missense_Mutation_p.S400N|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S479N|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S197N|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S197N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S479N|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S399N|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S197N			Q5T5P2	SKT_HUMAN	KIAA1217	25	95	0	123	479					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACAGAGTCAGTGACCTGAGG	0.542000													1	1	1	1	1	1	1.000000	27	105	0	134	1	9.493846e-01	3	19	0	134	5
DNMBP	23268	broad.mit.edu	37	10	101715317	101715317	+	Silent	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:101715317C>G	ENST00000342239.3	-	4	2005	c.1914G>C	c.(1912-1914)gtG>gtC	p.V638V	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Silent_p.V638V			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	8	59	0	65	638	Pro-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGGGTCGCACCACCAAGGGTG	0.597000													1	1	1	1	0	1	0.990854	8	60	0	68	0	1.795882e-01	0	6	0	68	4
SLC17A6	57084	broad.mit.edu	37	11	22396405	22396405	+	Silent	SNP	G	G	A	rs117003321		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:22396405G>A	ENST00000263160.3	+	9	1583	c.1146G>A	c.(1144-1146)acG>acA	p.T382T		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	40	108	0	142	382					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTTCAACTACGACAGTGAGAA	0.368000													1	1	1	1	1	1	1.000000	44	114	0	159	0	0	0	0	0	159	5
SUV420H1	51111	broad.mit.edu	37	11	67926336	67926336	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:67926336C>G	ENST00000304363.4	-	11	1830	c.1477G>C	c.(1477-1479)Gat>Cat	p.D493H		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	45	44	0	78	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGCTCCTTATCTTTTTTAATG	0.478000													1	1	1	1	1	1	1.000000	49	46	0	86	1	9.660386e-01	5	2	0	86	5
CARKD	55739	broad.mit.edu	37	13	111287884	111287884	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr13:111287884G>A	ENST00000309957.2	+	8	735	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	CARKD_ENST00000424185.2_Missense_Mutation_p.V131M|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000458711.2_Missense_Mutation_p.V110M	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	28	212	0	143	241	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CCTGGGCAACGTGACGGTGGT	0.592000													1	1	1	1	1	1	1.000000	29	224	0	156	1	9.947619e-01	2	64	0	156	5
MCF2L	23263	broad.mit.edu	37	13	113750979	113750979	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr13:113750979G>A	ENST00000375608.3	+	30	3452	c.3394G>A	c.(3394-3396)Gtg>Atg	p.V1132M	MCF2L_ENST00000442652.2_Missense_Mutation_p.V1132M|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000397030.1_3'UTR|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000434480.2_Missense_Mutation_p.V1108M|MCF2L_ENST00000375601.3_Intron			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	5	15	0	19	1132					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			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	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)				TAAGGCCCACGTGCCCCGAGC	0.741000													1	0	1	1	0	1	0.973097	6	15	0	19	1	9.476784e-01	16	1	0	19	3
SEC11A	23478	broad.mit.edu	37	15	85259282	85259282	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:85259282C>T	ENST00000268220.7	-	1	665	c.25G>A	c.(25-27)Gat>Aat	p.D9N	SEC11A_ENST00000455959.3_5'UTR|SEC11A_ENST00000560266.1_Missense_Mutation_p.D9N|SEC11A_ENST00000558134.1_Missense_Mutation_p.D9N	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	8	15	0	31	9					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)			CGCCGCACATCGTCCAAAAAG	0.642000													1	1	1	1	1	1	0.998557	10	18	0	35	1	1	134	127	0	35	5
KLHL25	64410	broad.mit.edu	37	15	86312852	86312852	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:86312852G>C	ENST00000337975.5	-	2	464	c.190C>G	c.(190-192)Ctg>Gtg	p.L64V	KLHL25_ENST00000536947.1_Missense_Mutation_p.L64V|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	14	33	0	65	64	BTB.					cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GAGGCGGCCAGCACGGCACGG	0.627000													1	1	1	1	1	1	0.999979	16	35	0	71	1	6.125414e-01	2	4	0	71	5
CRTC3	64784	broad.mit.edu	37	15	91172709	91172709	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:91172709G>A	ENST00000420329.2	+	11	1358	c.1211G>A	c.(1210-1212)gGt>gAt	p.G404D	CRTC3_ENST00000268184.6_Missense_Mutation_p.G404D|RP11-387D10.2_ENST00000559531.1_RNA	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	46	95	0	179	404					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCACATCAAGGTTTCAGCAGA	0.572000			T	MAML2	salivary gland mucoepidermoid								1	1	1	1	1	1	1.000000	48	97	0	185	1	9.672045e-01	8	6	0	185	5
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:7577141C>A	ENST00000420246.2	-	8	929	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000269305.4_Missense_Mutation_p.G266V|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	13	4	0	24	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GCTGTTCCGTCCCAGTAGATT	0.517000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	0	1	0.999984	13	4	0	26	1	1	77	3	0	26	4
USP43	124739	broad.mit.edu	37	17	9631744	9631744	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:9631744C>T	ENST00000570827.2	+	15	2950	c.1876C>T	c.(1876-1878)Cct>Tct	p.P626S	USP43_ENST00000570475.1_Missense_Mutation_p.P932S|USP43_ENST00000285199.6_Missense_Mutation_p.P937S			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	6	8	0	30	937					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CACTGTGATGCCTTCAGTGGA	0.537000													1	1	1	1	1	1	0.975837	6	10	0	33	1	9.014493e-01	4	6	0	33	5
SUPT6H	6830	broad.mit.edu	37	17	27009799	27009799	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:27009799G>T	ENST00000314616.6	+	14	1935	c.1652G>T	c.(1651-1653)cGg>cTg	p.R551L	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R551L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	24	84	0	89	551					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			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAGAACCTGCGGGATAGCTAC	0.557000													1	1	1	1	1	1	1.000000	26	88	0	94	1	9.999982e-01	14	67	0	94	5
CRHR1	1394	broad.mit.edu	37	17	43907499	43907499	+	Silent	SNP	C	C	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:43907499C>A	ENST00000314537.5	+	6	699	c.474C>A	c.(472-474)ctC>ctA	p.L158L	CRHR1_ENST00000339069.5_Silent_p.L57L|CRHR1_ENST00000398285.3_Silent_p.L187L|CRHR1_ENST00000352855.5_Silent_p.L118L|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000577353.1_Silent_p.L158L	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	86	97	0	180	187					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACTGGAACCTCATCTCCGCCT	0.622000													1	1	1	1	1	1	1.000000	99	104	0	200	0	0	0	0	0	200	5
SAMD4B	55095	broad.mit.edu	37	19	39869208	39869208	+	Silent	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr19:39869208C>T	ENST00000314471.6	+	11	2544	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Silent_p.I503I	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	12	67	0	51	503							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	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)			TCCAGCTCATCGAAAAGTGCC	0.572000													1	1	1	1	1	1	0.999843	14	71	0	55	1	9.999976e-01	27	113	0	55	5
ZNF808	388558	broad.mit.edu	37	19	53057634	53057634	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr19:53057634C>T	ENST00000359798.4	+	5	1645	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	37	128	0	117	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TAATGAGTGTCGCAAGACCTT	0.433000													1	1	1	1	1	1	1.000000	39	130	0	120	0	2.362974e-01	0	4	0	120	5
TRMT6	51605	broad.mit.edu	37	20	5919371	5919371	+	Splice_Site	SNP	A	A	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr20:5919371A>C	ENST00000203001.2	-	11	1434	c.1302_splice	c.e11-1	p.V435_splice	TRMT6_ENST00000453074.2_Splice_Site_p.V265_splice|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	14	75	0	56	435					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATCTGGCAAAACCTAATCAAG	0.418000													1	1	1	1	1	1	0.999920	15	76	0	59	1	9.997443e-01	18	60	0	59	5
ACTR5	79913	broad.mit.edu	37	20	37377490	37377490	+	Silent	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr20:37377490C>T	ENST00000243903.4	+	1	406	c.369C>T	c.(367-369)tcC>tcT	p.S123S		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	7	34	0	47	123					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				TGGGTGTCTCCTCACAGGTGA	0.632000													1	0	0	1	1	1	0.995807	9	37	0	51	1	8.129186e-01	2	13	0	51	3
PWP2	5822	broad.mit.edu	37	21	45544547	45544547	+	Missense_Mutation	SNP	G	G	A	rs144635092	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr21:45544547G>A	ENST00000291576.7	+	15	2031	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	6	60	0	71	635						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TACCACGTCCGTGAGCAGATT	0.602000													1	1	1	1	0	1	0.967337	6	61	0	80	1	9.195006e-01	7	42	0	80	4
CLTCL1	8218	broad.mit.edu	37	22	19196494	19196494	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr22:19196494G>C	ENST00000263200.10	-	21	3452	c.3380C>G	c.(3379-3381)tCc>tGc	p.S1127C	CLTCL1_ENST00000353891.5_Missense_Mutation_p.S1127C|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S1127C	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	16	7	0	15	1127	Heavy chain arm.|Proximal segment.				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			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCTGATATAGGAGTTGATGGC	0.547000			T	?	ALCL								1	1	1	1	1	1	0.999999	17	7	0	18	1	9.783072e-01	6	0	0	18	5
ARVCF	421	broad.mit.edu	37	22	19961226	19961226	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr22:19961226G>A	ENST00000263207.3	-	13	2470	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	ARVCF_ENST00000401994.1_Missense_Mutation_p.R664C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R658C|ARVCF_ENST00000406259.1_Missense_Mutation_p.R721C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R664C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	31	134	0	145	727					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCGACGGCGCGCACCACCTTG	0.667000													1	1	1	1	1	1	1.000000	31	145	0	152	1	9.990727e-01	6	48	0	152	5
BMP15	9210	broad.mit.edu	37	X	50659329	50659329	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrX:50659329C>T	ENST00000252677.3	+	2	901	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	77	65	0	139	301					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AATCAGCTTCCGCCAGCTGGG	0.498000													1	1	1	1	1	1	1.000000	80	68	0	149	0	0	0	0	0	149	5
URB2	9816	broad.mit.edu	37	1	229763491	229763492	+	Frame_Shift_Ins	INS	-	-	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:229763491_229763492insG	ENST00000258243.2	+	2	247_248	c.111_112insG	c.(109-114)ctcaaafs	p.K38fs		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	14	64	0	41	38						nucleolus		p.P38T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AGTGCTTTCTTCCAAATAAAGA	0.307000													0	1	1	1	0	1	0.999836	14	78	0	42	0	7.110862e-02	0	3	0	42	3
PGR	5241	broad.mit.edu	37	11	100999426	100999427	+	Frame_Shift_Ins	INS	-	-	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:100999426_100999427insC	ENST00000325455.5	-	1	1828_1829	c.375_376insG	c.(373-378)ggagagfs	p.E126fs	PGR_ENST00000263463.5_Frame_Shift_Ins_p.E126fs|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	7	8	0	12	126	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			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		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)	GGTTGGCTCTGCCCGGGACCTG	0.653000													0	0	1	1	0	1	0.986905	7	15	0	12							2
PVRL2	5819	broad.mit.edu	37	19	45368618	45368632	+	In_Frame_Del	DEL	TTCCTGGACTGTACA	TTCCTGGACTGTACA	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			TTCCTGGACTGTACA	-	TTCCTGGACTGTACA	TTCCTGGACTGTACA		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr19:45368618_45368632delTTCCTGGACTGTACA	ENST00000252483.5	+	2	179_193	c.179_193delTTCCTGGACTGTACA	c.(178-195)gtc>g	p.VPGLYI60del	PVRL2_ENST00000252485.4_In_Frame_Del_p.VPGLYI60del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	15	62	0	113	60	Ig-like V-type.				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			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	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)		CTGCCACCTGTTCCTGGACTGTACATCTCCCTGGT	0.656000													1	1	1	1	0	1	0.999991	18	74	0	109	0	9.999999e-01	0	137	0	109	4
EWSR1	2130	broad.mit.edu	37	22	29695296	29695296	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr22:29695296delC	ENST00000397938.2	+	15	1972	c.1653delC	c.(1651-1653)ttfs	p.F551fs	EWSR1_ENST00000331029.7_Frame_Shift_Del_p.F513fs|EWSR1_ENST00000406548.1_Frame_Shift_Del_p.F550fs|EWSR1_ENST00000414183.2_Frame_Shift_Del_p.F556fs|EWSR1_ENST00000332035.6_Frame_Shift_Del_p.F495fs|EWSR1_ENST00000332050.6_Frame_Shift_Del_p.F478fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	77	128	0	212	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGAAGGCTTCCTCCCGCCAC	0.522000			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								1	1	1	1	0	1	1.000000	77	215	0	219	1	1	189	810	0	219	4
HP1BP3	50809	broad.mit.edu	37	1	21100010	21100010	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:21100010C>A	ENST00000312239.5	-	5	583	c.444G>T	c.(442-444)caG>caT	p.Q148H	HP1BP3_ENST00000375003.2_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	17	44	0	59	148					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		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)		GTGTTTGTTTCTGGGCCCTGG	0.423000													1	1	1	1	1	1	0.999994	18	47	0	67	1	1	46	122	0	67	5
LYPLA2	11313	broad.mit.edu	37	1	24120731	24120731	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:24120731C>G	ENST00000400061.1	+	7	434	c.313C>G	c.(313-315)Cta>Gta	p.L105V	LYPLA2_ENST00000374514.3_Silent_p.L129L|LYPLA2_ENST00000374505.2_Missense_Mutation_p.L105V|LYPLA2_ENST00000374502.3_Silent_p.L129L|LYPLA2_ENST00000374501.1_Silent_p.L62L|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374503.3_Silent_p.L129L			O95372	LYPA2_HUMAN	lysophospholipase II	4	25	0	27	0					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		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)		CCCTGTCCCTCTACACGGCCC	0.701000													0	0	1	0	0	1	0.894511	4	29	0	28	1	9.996766e-01	78	113	0	28	1
TARS2	80222	broad.mit.edu	37	1	150478148	150478148	+	Silent	SNP	C	C	A	rs146012895		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:150478148C>A	ENST00000369064.3	+	17	2009	c.1975C>A	c.(1975-1977)Cgg>Agg	p.R659R	TARS2_ENST00000606933.1_Silent_p.R577R|TARS2_ENST00000369054.2_Silent_p.R529R	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	5	98	0	102	659					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	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)	GAGAATCCGCCGGGCCCAGCT	0.557000													0	0	1	0	0	1	0.939005	5	106	0	108	1	9.494866e-01	25	94	0	108	1
C1orf43	25912	broad.mit.edu	37	1	154186393	154186393	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:154186393C>G	ENST00000368521.5	-	4	514	c.316G>C	c.(316-318)Gct>Cct	p.A106P	C1orf43_ENST00000368516.1_Missense_Mutation_p.A72P|C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000368518.1_Missense_Mutation_p.A106P|C1orf43_ENST00000350592.3_Missense_Mutation_p.A72P|C1orf43_ENST00000368519.1_Intron	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	32	103	0	115	106						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GCATCCAGAGCTTTCATCCTA	0.488000													1	1	1	1	1	1	1.000000	38	118	0	133	1	1	56	131	0	133	5
FCRL3	115352	broad.mit.edu	37	1	157665945	157665945	+	Silent	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:157665945C>A	ENST00000368184.3	-	7	1308	c.1017G>T	c.(1015-1017)ctG>ctT	p.L339L	FCRL3_ENST00000368186.5_Silent_p.L339L|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	22	65	0	72	339	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTCTGCCAACAGGGAACGCT	0.522000													1	1	1	1	0	1	1.000000	24	69	0	76	0	0	0	1	0	76	4
PYCR2	29920	broad.mit.edu	37	1	226109286	226109286	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr1:226109286C>T	ENST00000343818.6	-	5	747	c.599G>A	c.(598-600)cGc>cAc	p.R200H	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R126H	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	25	46	0	80	200					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	GATTGCCAGGCGCCGTGGCAA	0.572000													1	1	1	1	1	1	1.000000	26	54	0	89	1	1	63	128	0	89	5
RNF181	51255	broad.mit.edu	37	2	85822893	85822893	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:85822893T>C	ENST00000441634.1	+	1	46	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P	RNF181_ENST00000306368.4_Missense_Mutation_p.S3P			Q9P0P0	RN181_HUMAN	ring finger protein 181	6	41	0	45	3							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						AGCCATGGCGTCCTATTTCGA	0.642000													1	1	1	1	1	1	0.967838	6	50	0	55	1	9.999500e-01	61	177	0	55	5
GLI2	2736	broad.mit.edu	37	2	121732502	121732502	+	Silent	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr2:121732502C>A	ENST00000452319.1	+	9	1245	c.1185C>A	c.(1183-1185)ggC>ggA	p.G395G	GLI2_ENST00000435313.2_Intron|GLI2_ENST00000361492.4_Silent_p.G395G|GLI2_ENST00000314490.11_Silent_p.G67G			P10070	GLI2_HUMAN	GLI family zinc finger 2	15	72	0	82	395					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	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTTTTCAGGGCCAGGTGTCTG	0.567000													1	1	1	1	1	1	0.999961	16	76	0	89	1	3.687565e-01	2	1	0	89	5
WNT7A	7476	broad.mit.edu	37	3	13896248	13896248	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:13896248G>A	ENST00000285018.4	-	3	655	c.351C>T	c.(349-351)caC>caT	p.H117H		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	21	93	0	130	117					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			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CTGTGATGGCGTGGGCCACGC	0.642000													1	1	1	1	1	1	0.999999	22	108	0	146	1	9.600945e-01	22	7	0	146	5
SCN10A	6336	broad.mit.edu	37	3	38798315	38798315	+	Silent	SNP	T	T	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:38798315T>G	ENST00000449082.2	-	9	1139	c.1140A>C	c.(1138-1140)gtA>gtC	p.V380V		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	18	140	0	117	380					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				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)	CCAGGAAGATTACGAGCACAA	0.463000													1	1	1	1	1	1	0.999993	19	148	0	129	0	0	0	0	0	129	5
SEC61A1	29927	broad.mit.edu	37	3	127786361	127786361	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:127786361C>T	ENST00000243253.3	+	10	1257	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	SEC61A1_ENST00000424880.2_Missense_Mutation_p.P238L|SEC61A1_ENST00000464451.1_Missense_Mutation_p.P364L|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000483956.1_3'UTR	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	14	96	0	111	358					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TTAGAAGACCCGGTCCATGCA	0.512000													1	1	1	1	1	1	0.999910	15	99	0	119	1	1	59	348	0	119	5
PIK3CA	5290	broad.mit.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	rs121913274		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr3:178936092A>C	ENST00000263967.3	+	10	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	7	19	0	24	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|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.E545A(96)|p.E545G(78)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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)			GAAATCACTGAGCAGGAGAAA	0.353000	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	0.992692	8	23	0	24	1	8.878420e-01	2	12	0	24	5
KLB	152831	broad.mit.edu	37	4	39408897	39408897	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr4:39408897T>C	ENST00000257408.4	+	1	425	c.328T>C	c.(328-330)Tgg>Cgg	p.W110R		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	16	43	0	52	110	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ACCTTCTATATGGGATCATTT	0.413000													1	1	1	1	1	1	0.999974	16	43	0	55	0	0	0	0	0	55	5
ENPEP	2028	broad.mit.edu	37	4	111430866	111430866	+	Missense_Mutation	SNP	C	C	T	rs151125401		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr4:111430866C>T	ENST00000265162.5	+	5	1439	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	15	90	0	81	366					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GGACTCATCACGTACAGAGAA	0.453000													1	1	1	1	1	1	0.999978	17	99	0	90	0	8.095885e-01	0	20	0	90	5
HAPLN1	1404	broad.mit.edu	37	5	82940357	82940357	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr5:82940357G>A	ENST00000274341.4	-	4	1450	c.600C>T	c.(598-600)ggC>ggT	p.G200G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	16	50	0	58	200	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		AGTCCAGCCCGCCCCGCCAGG	0.622000													1	1	1	1	1	1	0.999997	19	54	0	61	0	0	0	1	0	61	5
PCDHA7	0	broad.mit.edu	37	5	140214339	140214339	+	Missense_Mutation	SNP	A	A	G	rs61730624		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr5:140214339A>G	ENST00000525929.1	+	1	371	c.371A>G	c.(370-372)aAg>aGg	p.K124R	PCDHA7_ENST00000378125.3_Missense_Mutation_p.K124R|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1				20	227	0	255											NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAGGTGAAGGACATTAAC	0.607000													1	1	1	1	0	1	0.999996	20	243	0	247	0	0	0	1	0	247	4
PCDHGA6	0	broad.mit.edu	37	5	140754980	140754980	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr5:140754980G>A	ENST00000517434.1	+	1	1330	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1				23	161	0	192											breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGTGGCAGACACCAACGA	0.498000													1	1	1	1	1	1	1.000000	24	173	0	206	0	1.698962e-01	0	2	0	206	5
UST	10090	broad.mit.edu	37	6	149395011	149395011	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr6:149395011C>A	ENST00000367463.4	+	8	1083	c.980C>A	c.(979-981)aCt>aAt	p.T327N	UST_ENST00000466695.1_3'UTR	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	17	39	0	66	327					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GTGAAGAAGACTGTCCCCTCT	0.527000													1	1	1	1	1	1	0.999988	17	42	0	76	0	7.181972e-01	1	7	0	76	5
POM121L12	285877	broad.mit.edu	37	7	53103788	53103788	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:53103788G>A	ENST00000408890.4	+	1	440	c.424G>A	c.(424-426)Gcg>Acg	p.A142T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	10	49	0	46	142										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CATCGGGATCGCGCCCCCTGA	0.721000													1	1	1	1	0	1	0.998835	11	53	0	52	0	0	0	0	0	52	4
CLDN4	1364	broad.mit.edu	37	7	73245572	73245572	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:73245572C>G	ENST00000435050.1	+	2	2721	c.41C>G	c.(40-42)gCc>gGc	p.A14G	CLDN4_ENST00000340958.2_Missense_Mutation_p.A14G|CLDN4_ENST00000431918.1_Missense_Mutation_p.A14G			O14493	CLD4_HUMAN	claudin 4	8	99	0	92	14					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				ATCGCGCTGGCCGTCCTGGGC	0.657000													1	1	1	1	0	1	0.990207	8	107	0	99	1	9.999998e-01	109	594	0	99	4
RSBN1L	222194	broad.mit.edu	37	7	77378907	77378907	+	Silent	SNP	A	A	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:77378907A>G	ENST00000334955.7	+	3	897	c.870A>G	c.(868-870)caA>caG	p.Q290Q	RSBN1L_ENST00000445288.1_Silent_p.Q20Q	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	10	73	0	76	290						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGAAGATCAAGCAGCCAAAG	0.368000													1	1	1	1	1	1	0.999327	12	83	0	86	1	8.195416e-01	5	19	0	86	5
PDIA4	9601	broad.mit.edu	37	7	148718139	148718139	+	Silent	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr7:148718139T>C	ENST00000286091.4	-	2	421	c.189A>G	c.(187-189)ggA>ggG	p.G63G		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	7	22	0	23	63	Thioredoxin 1.				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			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GGACCAAGACTCCATTTTCTT	0.418000													1	1	1	1	1	1	0.985191	7	23	0	26	1	1	128	146	0	26	5
PXDNL	137902	broad.mit.edu	37	8	52320810	52320810	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:52320810C>A	ENST00000356297.4	-	17	3474	c.3374G>T	c.(3373-3375)aGg>aTg	p.R1125M	PXDNL_ENST00000543296.1_Missense_Mutation_p.R1125M	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	27	99	0	105	1125					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGAAGAGCCTCTGGGTCAG	0.577000													1	1	1	1	1	1	1.000000	30	113	0	117	0	2.042479e-01	0	4	0	117	5
CPQ	10404	broad.mit.edu	37	8	97847356	97847356	+	Missense_Mutation	SNP	G	G	T	rs113098340		TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:97847356G>T	ENST00000220763.5	+	3	799	c.589G>T	c.(589-591)Gtg>Ttg	p.V197L		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	5	70	0	41	197					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										AGCTGCCAAGGTGGGGGCTTT	0.478000													1	0	1	1	0	1	0.939630	5	74	0	44	1	9.640807e-01	3	92	0	44	3
STK3	6788	broad.mit.edu	37	8	99539092	99539092	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:99539092T>C	ENST00000523601.1	-	12	1678	c.1279A>G	c.(1279-1281)Aag>Gag	p.K427E	STK3_ENST00000419617.2_Missense_Mutation_p.K399E	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	20	60	0	51	399					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			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	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)		AAGTCTTGCTTATCAAAGTAG	0.363000													1	1	1	1	1	1	1.000000	22	73	0	54	1	9.965042e-01	7	27	0	54	5
ZFAT	57623	broad.mit.edu	37	8	135521992	135521992	+	Splice_Site	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr8:135521992C>T	ENST00000520727.1	-	16	3625	c.3325_splice	c.e16-1	p.G1109_splice	ZFAT_ENST00000429442.2_Splice_Site_p.G1109_splice|ZFAT_ENST00000377838.3_Splice_Site_p.G1121_splice|ZFAT_ENST00000523399.1_Splice_Site_p.G1059_splice|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520214.1_Splice_Site_p.G1109_splice	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	26	144	0	121	1121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	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)			CAGTCGGTCGCCTTAAGAGGA	0.587000													1	1	1	1	1	1	1.000000	29	158	0	134	1	7.350869e-01	5	11	0	134	5
ZNF462	58499	broad.mit.edu	37	9	109691937	109691937	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr9:109691937A>G	ENST00000277225.5	+	3	6033	c.5744A>G	c.(5743-5745)aAt>aGt	p.N1915S	ZNF462_ENST00000441147.2_Missense_Mutation_p.N760S|ZNF462_ENST00000457913.1_Missense_Mutation_p.N1915S			Q96JM2	ZN462_HUMAN	zinc finger protein 462	17	47	0	76	1915					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AACATTCACAATGAGGAATTC	0.493000													1	1	1	1	1	1	0.999986	17	51	0	82	1	7.527046e-01	2	7	0	82	5
MYO3A	53904	broad.mit.edu	37	10	26434431	26434431	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr10:26434431C>A	ENST00000265944.5	+	22	2639	c.2473C>A	c.(2473-2475)Ctt>Att	p.L825I	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	5	29	0	36	825	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			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAGAATGGAACTTAGTTTTGG	0.328000													1	0	1	1	1	1	0.968676	6	38	0	45	0	0	0	1	0	45	4
COX15	1355	broad.mit.edu	37	10	101491747	101491747	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr10:101491747G>A	ENST00000370483.5	-	1	110	c.60C>T	c.(58-60)ctC>ctT	p.L20L	COX15_ENST00000016171.5_Silent_p.L20L|CUTC_ENST00000493385.1_Intron	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	5	15	0	22	20					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TAGGAGCCAGGAGCGGCAGAT	0.612000													1	0	1	1	1	1	0.945274	5	18	0	27	1	7.650538e-01	2	10	0	27	4
PYGM	5837	broad.mit.edu	37	11	64519437	64519437	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr11:64519437C>T	ENST00000164139.3	-	14	2125	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	PYGM_ENST00000377432.3_Missense_Mutation_p.R488Q|PYGM_ENST00000462303.1_5'UTR	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	9	83	0	91	576					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.R576Q(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GAGGAGCTGTCGTTTATATTC	0.517000													1	1	1	1	0	1	0.994929	9	91	0	94	0	8.270465e-02	0	5	0	94	4
TRPC6	7225	broad.mit.edu	37	11	101362360	101362360	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr11:101362360G>A	ENST00000344327.3	-	3	1479	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M	TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.T352M|TRPC6_ENST00000360497.4_Missense_Mutation_p.T352M	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	26	61	0	91	352					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACTCTGGAGCGTTTCAACATC	0.438000													1	1	1	1	1	1	1.000000	26	68	0	96	0	6.216701e-01	0	6	0	96	5
KRT76	51350	broad.mit.edu	37	12	53162588	53162588	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr12:53162588C>A	ENST00000332411.2	-	9	1879	c.1826G>T	c.(1825-1827)gGa>gTa	p.G609V		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	15	95	0	93	609	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCACTTCCTCCAGAAGTCTG	0.582000													1	1	1	1	1	1	0.999977	17	111	0	99	0	0	0	0	0	99	5
NACA	4666	broad.mit.edu	37	12	57111096	57111096	+	Silent	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr12:57111096T>C	ENST00000454682.1	-	3	4499	c.4218A>G	c.(4216-4218)gcA>gcG	p.A1406A	NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	12	26	0	29	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGGAATCACTGCTGGGGAAG	0.597000			T	BCL6	NHL								1	1	1	1	1	1	0.999594	12	28	0	31	1	1	991	0	0	31	5
MARS	4141	broad.mit.edu	37	12	57882857	57882857	+	Silent	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr12:57882857C>T	ENST00000262027.5	+	2	299	c.165C>T	c.(163-165)agC>agT	p.S55S	MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	11	78	0	80	55					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	AGCTGGATAGCGGCAACTACC	0.483000													1	1	1	1	1	1	0.999827	14	89	0	90	1	9.986678e-01	10	66	0	90	5
PXN	5829	broad.mit.edu	37	12	120652778	120652778	+	Silent	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr12:120652778C>T	ENST00000397506.3	-	6	1617	c.564G>A	c.(562-564)acG>acA	p.T188T	PXN_ENST00000228307.7_Silent_p.T376T|PXN_ENST00000458477.2_Silent_p.T209T|PXN_ENST00000267257.7_Silent_p.T390T|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000424649.2_Silent_p.T342T|PXN_ENST00000536957.1_Silent_p.T374T			P49023	PAXI_HUMAN	paxillin	5	29	0	39	376					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGGGTGCCACGTCTTCCCCA	0.642000													1	1	1	1	1	1	0.942049	5	33	0	41	1	9.936793e-01	13	62	0	41	5
FANCM	57697	broad.mit.edu	37	14	45636162	45636162	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr14:45636162C>A	ENST00000267430.5	+	11	1883	c.1798C>A	c.(1798-1800)Cag>Aag	p.Q600K	FANCM_ENST00000556036.1_Missense_Mutation_p.Q600K|FANCM_ENST00000542564.2_Missense_Mutation_p.Q574K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	13	41	0	54	600	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATTTATAATCAGAGTCAGTC	0.279000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				1	1	1	1	1	1	0.999881	14	43	0	56	0	0	0	1	0	56	5
NDN	4692	broad.mit.edu	37	15	23931765	23931765	+	Silent	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			C	G	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:23931765C>G	ENST00000331837.4	-	1	685	c.600G>C	c.(598-600)gtG>gtC	p.V200V		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	12	46	0	49	200	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		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)		CGCGGCCCTTCACGTAGATGA	0.662000									Prader-Willi syndrome				1	1	1	1	1	1	0.999869	14	50	0	58	0	9.999966e-01	0	99	0	58	5
NPAP1	23742	broad.mit.edu	37	15	24921416	24921416	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:24921416G>A	ENST00000329468.2	+	1	876	c.402G>A	c.(400-402)gcG>gcA	p.A134A		NM_018958.2	NP_061831.2			nuclear pore associated protein 1	8	57	0	65																		GTGAGCCGGCGGTCAAGGCCA	0.632000													1	1	1	1	0	1	0.995226	9	63	0	71	0	0	0	0	0	71	4
NEDD4	4734	broad.mit.edu	37	15	56209012	56209012	+	Silent	SNP	T	T	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:56209012T>A	ENST00000508342.1	-	1	317	c.18A>T	c.(16-18)cgA>cgT	p.R6R	NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Silent_p.R6R|NEDD4_ENST00000338963.2_Silent_p.R6R			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	11	101	0	108	6					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			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAAAGTGCAATCGTAAGCTTT	0.443000													1	1	1	1	0	1	0.998599	11	107	0	120	0	0	0	0	0	120	4
GLCE	26035	broad.mit.edu	37	15	69553589	69553589	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr15:69553589G>C	ENST00000261858.2	+	4	978	c.750G>C	c.(748-750)tgG>tgC	p.W250C	GLCE_ENST00000559420.2_Missense_Mutation_p.W186C|GLCE_ENST00000559500.1_3'UTR	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	17	88	0	63	250					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CTAATGACTGGACTGTGCCAA	0.393000													1	1	1	1	1	1	0.999979	17	90	0	68	1	5.026539e-01	5	5	0	68	5
ANKS3	124401	broad.mit.edu	37	16	4750876	4750876	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:4750876G>A	ENST00000450067.2	-	7	1071	c.761C>T	c.(760-762)gCt>gTt	p.A254V	ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000304283.4_Intron			Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	21	136	0	123	0										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TGTTCTCCTAGCAGCGCCTGG	0.577000													1	0	1	1	0	1	0.999999	21	136	0	126	0	9.996605e-01	0	6	0	126	3
DCTN5	84516	broad.mit.edu	37	16	23654275	23654275	+	Splice_Site	SNP	G	G	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:23654275G>C	ENST00000300087.2	+	2	199		c.e2-1		DCTN5_ENST00000568589.1_Splice_Site|DCTN5_ENST00000563998.1_Splice_Site|DCTN5_ENST00000568272.1_Splice_Site	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	15	78	0	96							centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		TTTTCTTTTAGGCATCTGGGA	0.443000													1	1	1	1	1	1	0.999917	15	82	0	109	1	9.754502e-01	9	27	0	109	5
KIFC3	3801	broad.mit.edu	37	16	57795055	57795055	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:57795055G>C	ENST00000379655.4	-	15	2158	c.1901C>G	c.(1900-1902)aCg>aGg	p.T634R	KIFC3_ENST00000543930.1_Missense_Mutation_p.T492R|KIFC3_ENST00000539578.1_Missense_Mutation_p.T576R|KIFC3_ENST00000465878.2_Missense_Mutation_p.T495R|KIFC3_ENST00000445690.2_Missense_Mutation_p.T634R|KIFC3_ENST00000541240.1_Missense_Mutation_p.T656R|KIFC3_ENST00000421376.2_Missense_Mutation_p.T495R|KIFC3_ENST00000562903.1_Missense_Mutation_p.T495R|KIFC3_ENST00000540079.2_Missense_Mutation_p.T532R	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	11	85	0	79	634	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GAACTCGGTCGTGCGATTAGT	0.632000													1	1	1	1	1	1	0.999310	12	91	0	87	1	9.999457e-01	29	120	0	87	5
DHODH	1723	broad.mit.edu	37	16	72048540	72048540	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:72048540C>T	ENST00000572887.1	+	3	580	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	DHODH_ENST00000573922.1_3'UTR|DHODH_ENST00000219240.4_Missense_Mutation_p.R135C			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	6	23	0	48	135			R -> C (in POADS).		'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CAGAGTCTTCCGCCTCCCTGA	0.522000													1	0	0	1	0	1	0.970165	6	24	0	53	1	8.176476e-01	10	6	0	53	2
ANKRD11	29123	broad.mit.edu	37	16	89351378	89351378	+	Silent	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr16:89351378C>A	ENST00000301030.4	-	9	2032	c.1572G>T	c.(1570-1572)tcG>tcT	p.S524S	ANKRD11_ENST00000378330.2_Silent_p.S524S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	4	68	0	56	524	Ser-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		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)		TCCCGTGAGACGAGGTGGAGG	0.622000													1	1	1	1	0	1	0.939576	5	76	0	63	0	3.202208e-01	1	15	0	63	4
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr17:7578265A>G	ENST00000420246.2	-	6	716	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000269305.4_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	12	39	0	48	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TTCCACTCGGATAAGATGCTG	0.552000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	0.999885	14	41	0	54	1	1	113	31	0	54	5
BZRAP1	9256	broad.mit.edu	37	17	56386441	56386441	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr17:56386441C>T	ENST00000355701.3	-	22	5062	c.4192G>A	c.(4192-4194)Gga>Aga	p.G1398R	BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1338R|BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1398R	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	46	104	0	166	1398						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAACTAATCCAGGCATGTCT	0.652000													1	1	1	1	1	1	1.000000	51	113	0	183	1	9.997561e-01	17	15	0	183	5
CILP2	148113	broad.mit.edu	37	19	19654969	19654969	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:19654969C>G	ENST00000586018.1	+	8	1735	c.1633C>G	c.(1633-1635)Cct>Gct	p.P545A	CILP2_ENST00000291495.4_Missense_Mutation_p.P539A			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	16	90	0	80	539						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.P539S(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGGGTCTTGCCTTTTGATCC	0.602000													1	1	1	1	1	1	0.999989	18	98	0	83	1	9.999246e-01	3	89	0	83	5
ZNF567	163081	broad.mit.edu	37	19	37210154	37210154	+	Silent	SNP	T	T	C			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:37210154T>C	ENST00000585696.1	+	3	1665	c.435T>C	c.(433-435)acT>acC	p.T145T	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Silent_p.T145T|ZNF567_ENST00000360729.4_Silent_p.T145T|ZNF567_ENST00000536254.2_Silent_p.T176T|ZNF567_ENST00000392163.2_Silent_p.T145T			Q8N184	ZN567_HUMAN	zinc finger protein 567	12	46	0	20	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACAAGAGACTACTCATCCTG	0.368000													1	1	1	1	1	1	0.999435	12	51	0	20	1	9.777348e-01	5	26	0	20	5
ZNF383	163087	broad.mit.edu	37	19	37734477	37734477	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:37734477G>A	ENST00000589413.1	+	8	1922	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	ZNF383_ENST00000590503.1_Missense_Mutation_p.E447K|ZNF383_ENST00000352998.3_Missense_Mutation_p.E447K			Q8NA42	ZN383_HUMAN	zinc finger protein 383	66	54	0	64	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCACACTGGTGAAAAGCCCTA	0.348000													1	1	1	1	1	1	1.000000	76	62	0	76	1	9.998787e-01	9	7	0	76	5
SUPT5H	6829	broad.mit.edu	37	19	39955456	39955456	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:39955456G>A	ENST00000599117.1	+	12	1010	c.643G>A	c.(643-645)Gta>Ata	p.V215I	SUPT5H_ENST00000432763.2_Missense_Mutation_p.V215I|SUPT5H_ENST00000598725.1_Missense_Mutation_p.V215I|SUPT5H_ENST00000359191.6_Missense_Mutation_p.V211I|SUPT5H_ENST00000402194.2_Missense_Mutation_p.V211I			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	7	181	0	86	215	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			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	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)			GATCAAGTCAGTAGTGGCACC	0.572000													0	0	1	0	0	1	0.981146	7	200	0	98	1	9.916646e-01	16	240	0	98	1
CYP2F1	1572	broad.mit.edu	37	19	41628015	41628015	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr19:41628015T>A	ENST00000331105.2	+	6	871	c.799T>A	c.(799-801)Tgc>Agc	p.C267S		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	15	18	0	33	267					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.C267R(2)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CTTCATCCAGTGCTTCCTCAC	0.572000													1	1	1	1	1	1	0.999989	16	20	0	26	0	0	0	0	0	26	5
ARFGEF2	10564	broad.mit.edu	37	20	47605195	47605195	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr20:47605195G>A	ENST00000371917.4	+	18	2529	c.2529G>A	c.(2527-2529)aaG>aaA	p.K843K		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	14	64	0	46	843					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AATCTACTAAGCAGAGTAAGG	0.323000													1	1	1	1	1	1	0.999963	16	69	0	54	1	5.403546e-01	2	7	0	54	5
PICK1	9463	broad.mit.edu	37	22	38470949	38470949	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr22:38470949G>A	ENST00000404072.3	+	13	1405	c.1058G>A	c.(1057-1059)cGg>cAg	p.R353Q	PICK1_ENST00000356976.3_Missense_Mutation_p.R353Q	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	28	36	0	60	353	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			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GCAGTGCTGCGGGATGCCGAC	0.617000													1	1	1	1	1	1	1.000000	32	40	0	64	1	1	62	31	0	64	5
WWC3	55841	broad.mit.edu	37	X	10066584	10066584	+	Silent	SNP	C	C	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:10066584C>A	ENST00000380861.4	+	8	1087	c.696C>A	c.(694-696)gtC>gtA	p.V232V	WWC3_ENST00000454666.1_Silent_p.V232V	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	8	26	0	44	232										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TAGACCGAGTCAGACTTAATT	0.368000													1	0	1	1	1	1	0.996086	9	30	0	53	0	7.111827e-01	0	10	0	53	4
HUWE1	10075	broad.mit.edu	37	X	53574727	53574727	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:53574727G>T	ENST00000342160.3	-	67	11000	c.10543C>A	c.(10543-10545)Cca>Aca	p.P3515T	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.P3515T			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	8	29	0	21	3515	Thr-rich.				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			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ACCAGGGCTGGAGCAGAAGTG	0.592000													1	1	1	1	1	1	0.996134	9	29	0	21	0	9.999903e-01	0	101	0	21	5
HUWE1	10075	broad.mit.edu	37	X	53575115	53575115	+	Silent	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:53575115G>A	ENST00000342160.3	-	67	10612	c.10155C>T	c.(10153-10155)tgC>tgT	p.C3385C	HUWE1_ENST00000262854.6_Silent_p.C3385C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	5	19	0	13	3385					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			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGAAGTCTGTGCAAATGCCAC	0.532000													0	0	1	0	1	1	0.971721	6	19	0	13	0	9.999151e-01	0	92	0	13	2
NXF5	55998	broad.mit.edu	37	X	101092527	101092527	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:101092527A>T	ENST00000537026.1	-	15	1378	c.1019T>A	c.(1018-1020)gTg>gAg	p.V340E	NXF5_ENST00000361708.2_Missense_Mutation_p.V340E|NXF5_ENST00000473265.2_Missense_Mutation_p.V340E	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	51	176	0	215	340	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CCACATGTCCACCAGGATGGA	0.562000													1	1	1	1	1	1	1.000000	54	185	0	223	0	0	0	0	0	223	5
COL4A6	1288	broad.mit.edu	37	X	107408631	107408631	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:107408631G>T	ENST00000394872.2	-	38	4011	c.3780C>A	c.(3778-3780)gaC>gaA	p.D1260E	COL4A6_ENST00000538570.1_Missense_Mutation_p.D1235E|COL4A6_ENST00000372216.4_Missense_Mutation_p.D1260E|COL4A6_ENST00000334504.7_Missense_Mutation_p.D1259E|COL4A6_ENST00000545689.1_Missense_Mutation_p.D1235E			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	30	126	0	144	1260	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GTCGCCCGGGGTCACCAGGCT	0.557000									Alport syndrome with Diffuse Leiomyomatosis				1	1	1	1	1	1	1.000000	32	135	0	162	0	3.859649e-02	0	2	0	162	5
KLHL13	90293	broad.mit.edu	37	X	117054245	117054245	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:117054245A>G	ENST00000371876.1	-	2	2597	c.176T>C	c.(175-177)gTc>gCc	p.V59A	KLHL13_ENST00000371878.1_Missense_Mutation_p.V59A|KLHL13_ENST00000469946.1_Missense_Mutation_p.V59A|KLHL13_ENST00000541812.1_Missense_Mutation_p.V94A|KLHL13_ENST00000545703.1_Missense_Mutation_p.V68A|KLHL13_ENST00000262820.3_Missense_Mutation_p.V110A|KLHL13_ENST00000371882.1_Missense_Mutation_p.V59A|KLHL13_ENST00000540167.1_Missense_Mutation_p.V94A|KLHL13_ENST00000539496.1_Missense_Mutation_p.V113A			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	27	95	0	90	110					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGCCATCATGACTCTATGCAC	0.418000													1	1	1	1	1	1	1.000000	29	108	0	104	1	4.779034e-02	2	0	0	104	5
RHOXF1	158800	broad.mit.edu	37	X	119249749	119249749	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:119249749G>T	ENST00000217999.2	-	1	98	c.24C>A	c.(22-24)gaC>gaA	p.D8E	RP4-755D9.1_ENST00000553843.1_RNA	NM_139282.1	NP_644811.1	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	21	77	0	67	8					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						AGAACACGGTGTCGTGGACGA	0.607000													1	1	1	1	1	1	0.999999	21	81	0	72	0	2.879505e-01	0	5	0	72	5
MAGEA11	4110	broad.mit.edu	37	X	148798278	148798278	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chrX:148798278G>A	ENST00000355220.5	+	5	1234	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N	MAGEA11_ENST00000333104.4_Missense_Mutation_p.D349N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	60	227	0	251	378	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GCCCGGCACTGATCCTGCATG	0.557000													1	1	1	1	1	1	1.000000	66	249	0	264	0	0	0	0	0	264	5
SMAD4	4089	broad.mit.edu	37	18	48573424	48573425	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-NA-A4R0-01A-11D-A28R-08	TCGA-NA-A4R0-10A-01D-A28U-08			AT	-	AT	AT		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	ec89bdc8-d603-4989-a40b-1a113e74c6dd	a8070b85-a83f-4ac4-a7de-05934dc2af36	g.chr18:48573424_48573425delAT	ENST00000342988.3	+	2	546_547	c.8_9delAT	c.(7-9)afs	p.N3fs	SMAD4_ENST00000588745.1_Frame_Shift_Del_p.N3fs|RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.N3fs|SMAD4_ENST00000452201.2_Frame_Shift_Del_p.N3fs|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	11	18	0	25	3					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?(36)|p.?(5)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		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)		CAAATGGACAATATGTCTATTA	0.356000													1	1	1	1	0	1	0.999111	11	29	0	26	1	9.995057e-01	13	31	0	26	4
ATAD3C	219293	broad.mit.edu	37	1	1391260	1391260	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:1391260C>T	ENST00000378785.2	+	6	1523	c.528C>T	c.(526-528)taC>taT	p.Y176Y		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	19	31	0	99	176							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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)		TCCTGCTGTACGGGCCACCAG	0.627000													1	0	1	1	1	1	0.999998	19	32	0	106	0	0	0	0	0	106	4
SSU72	29101	broad.mit.edu	37	1	1500071	1500071	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:1500071C>T	ENST00000359060.4	-	2	332	c.306G>A	c.(304-306)gcG>gcA	p.A102A	SSU72_ENST00000291386.3_Intron			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	53	59	0	141	0					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	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)		CAGGGTGACACGCCTCCTGTG	0.562000													1	0	1	1	1	1	1.000000	54	61	0	154	1	1	41	45	0	154	4
GNB1	2782	broad.mit.edu	37	1	1747258	1747258	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:1747258G>A	ENST00000378609.4	-	5	471	c.140C>T	c.(139-141)aCg>aTg	p.T47M		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	11	29	0	57	47					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			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	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)		TGTCCTCCTCGTGCGCATTTG	0.488000													1	1	1	1	1	1	0.999903	14	33	0	61	1	1	303	910	0	61	5
TMEM201	199953	broad.mit.edu	37	1	9661177	9661177	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:9661177C>T	ENST00000340305.5	+	5	630	c.621C>T	c.(619-621)gcC>gcT	p.A207A	TMEM201_ENST00000340381.6_Silent_p.A207A|TMEM201_ENST00000377376.4_Silent_p.A207A	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	37	121	0	109	207						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|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)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		TCTCCTCCGCCGTGAAGTCCC	0.652000													1	1	1	1	1	1	1.000000	40	133	0	114	1	1	41	104	0	114	5
PADI1	29943	broad.mit.edu	37	1	17570624	17570624	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:17570624C>T	ENST00000375471.4	+	16	1970	c.1878C>T	c.(1876-1878)caC>caT	p.H626H	PADI1_ENST00000536552.1_Silent_p.H97H|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Silent_p.H141H|PADI1_ENST00000537499.1_Silent_p.H183H	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	39	38	0	88	626					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		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)	TGGGCCTGCACTGCATCTTCA	0.597000													1	1	1	1	1	1	1.000000	42	39	0	91	0	0	0	1	0	91	5
EPHA8	2046	broad.mit.edu	37	1	22928123	22928123	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:22928123C>T	ENST00000166244.3	+	17	2979	c.2907C>T	c.(2905-2907)gaC>gaT	p.D969D		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	5	10	0	10	969	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		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)		TTCACAGGGACGTGCGCGCCC	0.697000													0	0	1	1	0	1	0.948337	5	12	0	11	0	0	0	0	0	11	2
IFNLR1	163702	broad.mit.edu	37	1	24484264	24484264	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:24484264G>A	ENST00000327535.1	-	7	931	c.919C>T	c.(919-921)Cga>Tga	p.R307*	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Nonsense_Mutation_p.R278*	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1	98	95	0	257																		GCCCTGACTCGAGGCGTCGGC	0.577000													1	1	1	1	1	1	1.000000	108	100	0	288	1	9.995434e-01	8	7	0	288	5
STPG1	90529	broad.mit.edu	37	1	24727829	24727829	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:24727829C>T	ENST00000374409.1	-	2	304	c.50G>A	c.(49-51)cGt>cAt	p.R17H	STPG1_ENST00000337248.4_Missense_Mutation_p.R17H|STPG1_ENST00000440416.1_Missense_Mutation_p.V10M|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Missense_Mutation_p.V10M	NM_001199012.1	NP_001185941.1			sperm-tail PG-rich repeat containing 1	3	21	0	29																		TTCACTGGCACGTCTGGGATG	0.418000													0	0	1	0	0	1	0.812891	3	22	0	32	1	9.619244e-01	2	51	0	32	1
CLIC4	25932	broad.mit.edu	37	1	25140694	25140694	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:25140694G>A	ENST00000374379.4	+	3	489	c.292G>A	c.(292-294)Gtc>Atc	p.V98I	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	46	32	0	97	98	Required for insertion into the membrane (Probable).				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			large_intestine(3)|lung(2)|skin(1)	6		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)		TCTTGAAGAAGTCTTATGCCC	0.403000													1	1	1	1	1	1	1.000000	53	34	0	114	1	1	66	72	0	114	5
AIM1L	55057	broad.mit.edu	37	1	26669268	26669268	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:26669268C>T	ENST00000527815.1	-	4	608	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	AIM1L_ENST00000308182.5_Missense_Mutation_p.G16S	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	105	112	0	283	16	Beta/gamma crystallin 'Greek key' 4.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		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)		CTTAGGGAGCCGATGCCTTGG	0.597000													1	1	1	1	1	1	1.000000	118	126	0	331	0	0	1	0	0	331	5
GJB3	2707	broad.mit.edu	37	1	35250835	35250835	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:35250835A>G	ENST00000373366.2	+	2	1087	c.472A>G	c.(472-474)Atg>Gtg	p.M158V	GJB3_ENST00000373362.3_Missense_Mutation_p.M158V|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	69	60	0	163	158					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGGCTTCAATATGCCGCGCCT	0.552000													1	1	1	1	1	1	1.000000	74	60	0	172	0	0	0	0	0	172	5
LRRC7	57554	broad.mit.edu	37	1	70225900	70225900	+	Missense_Mutation	SNP	C	C	T	rs150507629		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:70225900C>T	ENST00000310961.5	+	4	446	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	LRRC7_ENST00000035383.5_Missense_Mutation_p.R5W|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.R43W			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	21	20	0	43	5						centrosome|focal adhesion|nucleolus	protein binding	p.R5W(2)|p.R43W(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GACCACCAAACGGAAAATCAT	0.458000													1	1	1	1	1	1	1.000000	24	22	0	46	0	0	0	0	0	46	5
PTBP2	58155	broad.mit.edu	37	1	97217025	97217025	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:97217025G>A	ENST00000236228.6	+	3	166	c.84G>A	c.(82-84)ccG>ccA	p.P28P	PTBP2_ENST00000482253.1_Intron|PTBP2_ENST00000370198.1_Silent_p.P28P|PTBP2_ENST00000394184.3_Silent_p.P39P|PTBP2_ENST00000541987.1_5'UTR|PTBP2_ENST00000370197.1_Silent_p.P28P|PTBP2_ENST00000426398.2_Silent_p.P28P	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	75	76	0	205	28							nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		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)		TCAGTAGTCCGAACTCTAATA	0.348000													1	1	1	1	1	1	1.000000	86	85	0	240	1	1	16	21	0	240	5
PDE4DIP	9659	broad.mit.edu	37	1	145075040	145075040	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:145075040C>A	ENST00000369345.4	-	2	468	c.254G>T	c.(253-255)gGc>gTc	p.G85V	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369348.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	6	47	0	56	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCCATCCAGCCATCAGGCAG	0.502000			T	PDGFRB	MPD								1	1	1	1	0	1	0.967634	6	54	0	71	1	9.551918e-01	7	47	0	71	4
INSRR	3645	broad.mit.edu	37	1	156823762	156823762	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:156823762C>T	ENST00000368195.3	-	2	815	c.419G>A	c.(418-420)cGt>cAt	p.R140H	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	19	22	0	44	140					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			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTCTCCACACGCACAGCCCC	0.627000													1	1	1	1	1	1	1.000000	20	23	0	46	0	0	0	0	0	46	5
TADA1	117143	broad.mit.edu	37	1	166829507	166829507	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:166829507T>C	ENST00000367874.4	-	6	701	c.608A>G	c.(607-609)cAt>cGt	p.H203R	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	23	23	0	63	203					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						ATATTTAAAATGACCATCTCG	0.358000													1	1	1	1	1	1	1.000000	27	25	0	71	1	1	36	24	0	71	5
PAPPA2	60676	broad.mit.edu	37	1	176709279	176709279	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:176709279G>A	ENST00000367662.3	+	14	5262	c.4098G>A	c.(4096-4098)tcG>tcA	p.S1366S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	33	32	0	56	1366					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.S1366S(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGGTCTTTCGGCTCCCAGTA	0.507000													1	1	1	1	1	1	1.000000	34	32	0	57	0	0	0	0	0	57	5
NCF2	4688	broad.mit.edu	37	1	183532665	183532665	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:183532665G>A	ENST00000413720.1	-	11	1221	c.947C>T	c.(946-948)aCg>aTg	p.T316M	NCF2_ENST00000367536.1_Missense_Mutation_p.T361M|NCF2_ENST00000418089.1_Missense_Mutation_p.T280M|NCF2_ENST00000367535.3_Missense_Mutation_p.T361M|NCF2_ENST00000469280.1_5'UTR	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	69	85	0	203	361					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CATGACTACCGTGTACTTGTA	0.547000													1	1	1	1	1	1	1.000000	71	91	0	216	0	9.239846e-01	0	8	0	216	5
FAM5C	0	broad.mit.edu	37	1	190067975	190067975	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:190067975G>A	ENST00000367462.3	-	8	1705	c.1474C>T	c.(1474-1476)Ctg>Ttg	p.L492L	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.L390L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		29	136	0	190	492						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGATCTTGCAGGTCAGTTTCA	0.512000													1	1	1	1	1	1	1.000000	31	144	0	200	0	9.999380e-01	0	74	0	200	5
RASSF5	83593	broad.mit.edu	37	1	206711576	206711576	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:206711576G>A	ENST00000338603.2	+	2	590	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	RASSF5_ENST00000355294.4_Missense_Mutation_p.R178Q|RASSF5_ENST00000367117.3_Missense_Mutation_p.R178Q	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	134	87	0	198	178					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGTTTATCCCGGGACAGACCC	0.567000													1	1	1	1	1	1	1.000000	145	91	0	222	1	9.923619e-01	6	2	0	222	5
DIEXF	27042	broad.mit.edu	37	1	210014237	210014237	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:210014237C>A	ENST00000491415.2	+	8	1379	c.1322C>A	c.(1321-1323)cCg>cAg	p.P441Q		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	36	40	0	86	441					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						CTCTATGCCCCGTTTTACTCC	0.468000													1	1	1	1	1	1	1.000000	40	45	0	100	1	1	20	22	0	100	5
OBSCN	84033	broad.mit.edu	37	1	228547520	228547520	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:228547520G>A	ENST00000284548.11	+	81	19001	c.18927G>A	c.(18925-18927)gaG>gaA	p.E6309E	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Silent_p.E3428E|OBSCN_ENST00000570156.2_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5	11	0	19	7132					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			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGAGGCCGAGGCCCACTCTC	0.682000													1	1	1	1	1	1	0.949096	5	11	0	19	1	7.535760e-01	5	3	0	19	5
RMDN2	151393	broad.mit.edu	37	2	38178932	38178932	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:38178932A>G	ENST00000407257.1	+	2	721	c.574A>G	c.(574-576)Aca>Gca	p.T192A	RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000234195.3_Missense_Mutation_p.T192A|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.T192A					regulator of microtubule dynamics 2	39	39	0	103																		GAATTTTGAAACAAACACTAC	0.333000													1	1	1	1	1	1	1.000000	39	42	0	109	1	6.558672e-01	4	0	0	109	5
CYP1B1	1545	broad.mit.edu	37	2	38301893	38301893	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:38301893G>A	ENST00000260630.3	-	2	1040	c.639C>T	c.(637-639)cgC>cgT	p.R213R	CYP1B1_ENST00000407341.1_Silent_p.R213R|CYP1B1_ENST00000494864.1_Intron	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	4	14	0	21	213					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	CGTGGCTGTAGCGGCAGCCGA	0.701000													0	0	1	0	0	1	0.898298	4	14	0	23	1	9.994450e-01	31	58	0	23	1
NRXN1	9378	broad.mit.edu	37	2	51254739	51254739	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:51254739C>A	ENST00000404971.1	-	2	2012	c.673G>T	c.(673-675)Ggc>Tgc	p.G225C	NRXN1_ENST00000401669.2_Missense_Mutation_p.G225C|NRXN1_ENST00000402717.3_Missense_Mutation_p.G225C|NRXN1_ENST00000406859.3_Missense_Mutation_p.G225C|NRXN1_ENST00000406316.2_Missense_Mutation_p.G225C|NRXN1_ENST00000405472.3_Missense_Mutation_p.G225C|NRXN1_ENST00000405581.1_Missense_Mutation_p.G225C	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	7	8	0	28	225	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CACACCCCGCCCTCGCCCTCC	0.716000													1	1	1	1	0	1	0.989284	7	9	0	28	0	0	0	0	0	28	4
PTPN18	26469	broad.mit.edu	37	2	131116491	131116491	+	Missense_Mutation	SNP	G	G	A	rs11892325	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:131116491G>A	ENST00000175756.5	+	2	246	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	44	68	0	145	49	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GTGCTCCACCGTGGCCGGCAG	0.627000													1	1	1	1	1	1	1.000000	49	69	0	166	1	9.999087e-01	14	11	0	166	5
KYNU	8942	broad.mit.edu	37	2	143718291	143718291	+	Silent	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:143718291T>C	ENST00000264170.4	+	8	939	c.681T>C	c.(679-681)acT>acC	p.T227T	KYNU_ENST00000375773.2_Silent_p.T227T|KYNU_ENST00000409512.1_Silent_p.T227T	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	14	56	0	93	227					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATTTTTACACTGGACAGCACT	0.428000													1	0	1	1	1	1	0.999931	15	59	0	104	0	4.647984e-02	1	1	0	104	4
SH3BP4	23677	broad.mit.edu	37	2	235950972	235950972	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:235950972C>T	ENST00000409212.1	+	4	2066	c.1559C>T	c.(1558-1560)gCc>gTc	p.A520V	SH3BP4_ENST00000344528.4_Missense_Mutation_p.A520V|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A520V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	12	47	0	96	520					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		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)		GCCCCGGTGGCCCTGCAGCTG	0.567000													1	1	1	1	1	1	0.999939	15	49	0	98	1	9.837115e-01	8	18	0	98	5
PASK	23178	broad.mit.edu	37	2	242078093	242078093	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:242078093C>T	ENST00000403638.3	-	5	808	c.717G>A	c.(715-717)tcG>tcA	p.S239S	PASK_ENST00000234040.4_Silent_p.S239S|PASK_ENST00000539818.1_Silent_p.S23S|PASK_ENST00000544142.1_Silent_p.S53S|PASK_ENST00000405260.1_Silent_p.S239S|PASK_ENST00000358649.4_Silent_p.S239S	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	32	50	0	108	239					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		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)		CGACCCAGGTCGAGACCCTCT	0.602000													1	1	1	1	1	1	1.000000	32	54	0	125	1	9.999473e-01	12	20	0	125	5
DLEC1	9940	broad.mit.edu	37	3	38139340	38139340	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:38139340G>A	ENST00000308059.6	+	18	2692	c.2671G>A	c.(2671-2673)Gcc>Acc	p.A891T	DLEC1_ENST00000346219.3_Missense_Mutation_p.A891T|DLEC1_ENST00000452631.2_Missense_Mutation_p.A891T			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	37	0	0	89	891					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAGCTCCCAGCCACATGGCG	0.597000													1	1	1	1	1	1	1.000000	39	0	0	98	0	0	0	0	0	98	5
MAGI1	9223	broad.mit.edu	37	3	65342632	65342632	+	Silent	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:65342632T>C	ENST00000402939.2	-	23	3809	c.3810A>G	c.(3808-3810)agA>agG	p.R1270R	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	31	83	0	150	1299					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		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)		TGCTATACTCTCTGCTGCCTT	0.587000													1	1	1	1	1	1	1.000000	32	88	0	167	0	2.980191e-01	1	3	0	167	5
TMF1	7110	broad.mit.edu	37	3	69093748	69093748	+	Splice_Site	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:69093748T>C	ENST00000543976.1	-	3	1603		c.e3-2		CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000398559.2_Splice_Site|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	6	19	0	37						regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		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)		TTCAACTGTCTGGATAAGGCG	0.348000													1	0	1	1	1	1	0.985917	7	19	0	40	1	9.997548e-01	40	21	0	40	4
HTR3E	285242	broad.mit.edu	37	3	183818194	183818194	+	Missense_Mutation	SNP	C	C	T	rs142990158	byFrequency	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:183818194C>T	ENST00000335304.2	+	1	228	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	HTR3E_ENST00000440596.2_Missense_Mutation_p.R12C|HTR3E_ENST00000415389.2_Intron|HTR3E_ENST00000436361.2_Missense_Mutation_p.R12C|HTR3E_ENST00000425359.2_Intron|HTR3E-AS1_ENST00000431427.1_RNA	NM_182589.2|NM_198314.2	NP_872395.2|NP_938056.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	50	58	0	218	0						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GGCGACCCCACGCCCTGCCTT	0.478000													1	1	1	1	1	1	1.000000	51	62	0	239	0	0	0	0	0	239	5
LPP	4026	broad.mit.edu	37	3	188590444	188590444	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:188590444C>T	ENST00000312675.4	+	10	1849	c.1603C>T	c.(1603-1605)Cga>Tga	p.R535*	LPP_ENST00000543006.1_Nonsense_Mutation_p.R535*	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	46	2	0	136	535	LIM zinc-binding 3.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	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)		ATTTGCCCCGCGATGTTCTGT	0.527000			T	HMGA2, MLL, C12orf9	lipoma, leukemia								1	1	1	1	1	1	1.000000	54	2	0	162	0	0	1	0	0	162	5
SORCS2	57537	broad.mit.edu	37	4	7725501	7725501	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:7725501C>T	ENST00000507866.2	+	19	2611	c.2502C>T	c.(2500-2502)acC>acT	p.T834T	SORCS2_ENST00000329016.9_Silent_p.T662T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	32	4	0	234	834	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTACACTGACCGGGGAGCCCA	0.612000													1	1	1	1	1	1	1.000000	34	4	0	265	1	9.998565e-01	5	2	0	265	5
METTL14	57721	broad.mit.edu	37	4	119621741	119621741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:119621741C>T	ENST00000388822.4	+	8	849	c.682C>T	c.(682-684)Cga>Tga	p.R228*	METTL14_ENST00000506780.1_Nonsense_Mutation_p.R190*			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	24	31	0	83	228						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TGCAGCACCTCGATCATTTAT	0.338000													1	1	1	1	1	1	1.000000	25	35	0	110	1	9.998973e-01	6	21	0	110	5
NDNF	79625	broad.mit.edu	37	4	121957767	121957767	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:121957767G>A	ENST00000379692.4	-	4	1885	c.1359C>T	c.(1357-1359)atC>atT	p.I453I		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	64	61	1	160	453	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CAAAGGCTTTGATTCTTGTGT	0.448000													1	0	1	1	1	1	1.000000	73	62	1	177	0	7.421305e-01	0	4	1	177	4
FGB	2244	broad.mit.edu	37	4	155487137	155487137	+	Missense_Mutation	SNP	G	G	A	rs121909620		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:155487137G>A	ENST00000302068.4	+	2	355	c.292G>A	c.(292-294)Gct>Act	p.A98T	FGB_ENST00000509493.1_Intron|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	26	25	0	49	98			A -> T (in Naples and Milano-2; associated with defective thrombin binding and thrombophilia).|Missing (in New York-1).		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			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGTCTTCACGCTGACCCAGA	0.537000													1	1	1	1	1	1	1.000000	29	26	0	51	0	0	0	0	0	51	5
FAT1	2195	broad.mit.edu	37	4	187509884	187509884	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:187509884G>A	ENST00000441802.2	-	27	13838	c.13629C>T	c.(13627-13629)acC>acT	p.T4543T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	14	1	0	55	4543					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			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAGGAGGCGGTGGAGGCGT	0.597000										HNSCC(5;0.00058)			1	1	1	1	1	1	1.000000	16	1	0	61	1	1	19	11	0	61	5
PAPD7	11044	broad.mit.edu	37	5	6742670	6742670	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:6742670C>T	ENST00000230859.6	+	5	455	c.326C>T	c.(325-327)aCg>aTg	p.T109M		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	26	22	0	99	109					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			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AACATGGAGACGGGCGTCCGG	0.468000													1	1	1	1	1	1	1.000000	31	24	0	116	1	1	41	27	0	116	5
CTNND2	1501	broad.mit.edu	37	5	10981913	10981913	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:10981913G>A	ENST00000304623.8	-	21	3578	c.3389C>T	c.(3388-3390)gCg>gTg	p.A1130V	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A1072V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A697V|CTNND2_ENST00000503622.1_Missense_Mutation_p.A793V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A1039V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	21	57	0	97	1130					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCAGCGGGCGCACCATAAGA	0.343000													1	1	1	1	1	1	1.000000	25	67	0	118	0	0	0	0	0	118	5
CHD1	1105	broad.mit.edu	37	5	98192247	98192247	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:98192247T>C	ENST00000284049.3	-	35	5119	c.4970A>G	c.(4969-4971)gAt>gGt	p.D1657G		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	12	27	0	55	1657					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			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		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)	ATACCTATAATCCCTGGAAGA	0.458000													1	1	1	1	1	1	0.999910	14	30	0	58	1	9.999247e-01	14	31	0	58	5
C5orf15	56951	broad.mit.edu	37	5	133292586	133292586	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:133292586C>T	ENST00000231512.3	-	3	964	c.762G>A	c.(760-762)atG>atA	p.M254I		NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	11	52	0	80	254						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TCAAAGAAGGCATTGCCTCAT	0.338000													1	1	1	1	1	1	0.998806	11	57	0	88	1	1	73	260	0	88	5
SIL1	64374	broad.mit.edu	37	5	138456752	138456752	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:138456752C>T	ENST00000394817.2	-	3	355	c.216G>A	c.(214-216)ccG>ccA	p.P72P	SIL1_ENST00000509534.1_Silent_p.P79P|SIL1_ENST00000265195.5_Silent_p.P72P	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	81	50	0	125	72	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACTCATGCGTCGGGTGGAACA	0.547000									Marinesco-Sjgren syndrome				1	1	1	1	1	1	1.000000	85	56	0	133	1	1	96	83	0	133	5
CD14	929	broad.mit.edu	37	5	140011859	140011859	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:140011859G>A	ENST00000302014.6	-	2	1339	c.710C>T	c.(709-711)cCc>cTc	p.P237L	CD14_ENST00000401743.2_Missense_Mutation_p.P237L	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	22	76	0	121	237					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGCCTGTGGGCGTCTCCAT	0.657000													1	1	1	1	1	1	1.000000	23	80	0	136	0	9.999999e-01	1	109	0	136	5
PCDHB5	0	broad.mit.edu	37	5	140515250	140515250	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:140515250T>A	ENST00000231134.5	+	1	451	c.234T>A	c.(232-234)gaT>gaA	p.D78E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		37	59	0	110	78	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAGCTTGATATAAAGACCG	0.502000													1	1	1	1	1	1	1.000000	38	62	0	119	0	3.283838e-01	0	3	0	119	5
NSD1	64324	broad.mit.edu	37	5	176721178	176721178	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:176721178C>A	ENST00000439151.2	+	23	6854	c.6809C>A	c.(6808-6810)gCa>gAa	p.A2270E	NSD1_ENST00000347982.4_Missense_Mutation_p.A2001E|NSD1_ENST00000361032.4_Missense_Mutation_p.A2167E|NSD1_ENST00000354179.4_Missense_Mutation_p.A2001E	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	104	109	1	211	2270	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			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	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)		AAAGCTCTGGCAGGGACTTGT	0.532000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			1	1	1	1	1	1	1.000000	109	121	1	234	1	1	50	41	1	234	5
SLC25A27	9481	broad.mit.edu	37	6	46623609	46623609	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr6:46623609C>T	ENST00000371347.5	+	2	388	c.136C>T	c.(136-138)Cga>Tga	p.R46*	SLC25A27_ENST00000411689.2_Nonsense_Mutation_p.R46*|SLC25A27_ENST00000452689.2_5'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	31	32	0	75	46					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			CACAAAAACTCGACTCCAAAT	0.458000													1	1	1	1	1	1	1.000000	35	36	0	84	0	0	0	0	0	84	5
TULP4	56995	broad.mit.edu	37	6	158900985	158900985	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr6:158900985C>T	ENST00000367097.3	+	7	2586	c.1229C>T	c.(1228-1230)aCt>aTt	p.T410I	TULP4_ENST00000367094.2_Missense_Mutation_p.T410I	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	11	31	0	97	410	SOCS box.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		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)		TACCTCTCCACTGCCTTCATC	0.637000													1	1	1	1	1	1	0.999998	19	38	0	105	1	9.903820e-01	4	15	0	105	5
MALSU1	115416	broad.mit.edu	37	7	23347508	23347508	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:23347508C>T	ENST00000466681.1	+	3	610	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN	mitochondrial assembly of ribosomal large subunit 1	16	111	0	106	153						mitochondrion											GAAATGTAAACGTGACCCTCA	0.428000													1	1	1	1	1	1	0.999994	19	122	0	124	1	9.999999e-01	25	179	0	124	5
NUDCD3	23386	broad.mit.edu	37	7	44530146	44530146	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:44530146C>T	ENST00000355451.6	-	1	333	c.54G>A	c.(52-54)caG>caA	p.Q18Q		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	15	6	0	37	18										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TGCCCACGTGCTGCAGGATGC	0.622000													1	1	1	1	1	1	0.999995	15	7	0	43	1	1	63	57	0	43	5
BAZ1B	9031	broad.mit.edu	37	7	72907249	72907249	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:72907249C>T	ENST00000339594.4	-	5	912	c.574G>A	c.(574-576)Gac>Aac	p.D192N	BAZ1B_ENST00000404251.1_Missense_Mutation_p.D192N	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	23	10	0	26	192	Mediates the tyrosine-protein kinase activity.				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			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGTGCTCTGTCATCTAGTCAA	0.348000													1	1	1	1	1	1	1.000000	24	11	0	31	1	1	154	69	0	31	5
ZNF804B	219578	broad.mit.edu	37	7	88963258	88963258	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:88963258A>G	ENST00000333190.4	+	4	1571	c.962A>G	c.(961-963)cAt>cGt	p.H321R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	14	32	0	41	321						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATTGGCATTCATGCTTCATTC	0.328000										HNSCC(36;0.09)			1	1	1	1	1	1	0.999954	15	34	0	46	0	0	0	0	0	46	5
AKAP9	10142	broad.mit.edu	37	7	91714219	91714219	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:91714219G>A	ENST00000359028.2	+	35	9034	c.8809G>A	c.(8809-8811)Gaa>Aaa	p.E2937K	AKAP9_ENST00000356239.3_Missense_Mutation_p.E2933K|AKAP9_ENST00000358100.2_Intron			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	51	106	0	91	2937					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	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)			AGAAGAAAGTGAAAGTGCAAC	0.368000			T	BRAF	papillary thyroid								1	1	1	1	1	1	1.000000	57	116	0	106	1	9.999942e-01	16	26	0	106	5
TRRAP	8295	broad.mit.edu	37	7	98581955	98581955	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:98581955G>A	ENST00000359863.4	+	60	9483	c.9274G>A	c.(9274-9276)Gtc>Atc	p.V3092I	TRRAP_ENST00000446306.3_Missense_Mutation_p.V3063I|TRRAP_ENST00000355540.3_Missense_Mutation_p.V3063I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	54	126	0	130	3092	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			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	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)			GCTGGCAGGCGTCATGGGCAA	0.498000													1	1	1	1	1	1	1.000000	57	132	0	145	1	1	68	120	0	145	5
SLC26A3	1811	broad.mit.edu	37	7	107417136	107417136	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:107417136C>T	ENST00000340010.5	-	14	1714	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	SLC26A3_ENST00000422236.2_Silent_p.T475T	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	5	71	0	28	510					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			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TATTAGCCAGCGTGCTGCATT	0.333000													1	0	1	1	0	1	0.966826	6	78	0	30	0	0	0	0	0	30	3
NUP205	23165	broad.mit.edu	37	7	135304341	135304341	+	Silent	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:135304341T>C	ENST00000285968.6	+	29	4160	c.4134T>C	c.(4132-4134)ccT>ccC	p.P1378P		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	7	51	0	53	1378					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCACCTCACCTCCTCCTGAAG	0.438000													1	1	1	1	1	1	0.982906	7	51	0	56	1	9.995514e-01	29	99	0	56	5
HR	55806	broad.mit.edu	37	8	21986672	21986672	+	Silent	SNP	C	C	T	rs148136587		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr8:21986672C>T	ENST00000381418.4	-	2	1492	c.12G>A	c.(10-12)acG>acA	p.T4T	HR_ENST00000312841.8_Silent_p.T4T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	48	62	0	178	4							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		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)		GGAAGCTGGGCGTACTCTCCA	0.632000													1	1	1	1	1	1	1.000000	51	67	0	205	1	9.958871e-01	5	10	0	205	5
ADAM9	8754	broad.mit.edu	37	8	38865443	38865443	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr8:38865443A>G	ENST00000487273.2	+	2	214	c.136A>G	c.(136-138)Ata>Gta	p.I46V	ADAM9_ENST00000481513.1_Missense_Mutation_p.I46V|ADAM9_ENST00000466936.1_Missense_Mutation_p.I46V	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	20	21	0	44	46				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|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|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			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			TTATGAAATTATAACTCCTTG	0.318000													1	1	1	1	1	1	1.000000	21	24	0	53	1	9.999999e-01	24	22	0	53	5
SLC20A2	6575	broad.mit.edu	37	8	42275340	42275340	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr8:42275340C>A	ENST00000342228.3	-	11	2309	c.1940G>T	c.(1939-1941)gGg>gTg	p.G647V	SLC20A2_ENST00000520262.1_Missense_Mutation_p.G647V|SLC20A2_ENST00000520179.1_Missense_Mutation_p.G647V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	14	56	0	89	647					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGGAAGGATCCCATACATGAG	0.552000													1	1	1	1	1	1	0.999932	15	57	0	102	1	9.926599e-01	8	27	0	102	5
ERMP1	79956	broad.mit.edu	37	9	5787228	5787228	+	Silent	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:5787228A>G	ENST00000339450.5	-	15	2720	c.2631T>C	c.(2629-2631)ccT>ccC	p.P877P	ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_3'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	20	26	0	46	877					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CATCCAGTTGAGGGGATCTCT	0.473000													1	1	1	1	1	1	1.000000	23	26	0	52	1	1	35	30	0	52	5
BNC2	54796	broad.mit.edu	37	9	16419174	16419174	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:16419174T>C	ENST00000380672.4	-	7	3170	c.3113A>G	c.(3112-3114)aAc>aGc	p.N1038S	BNC2_ENST00000380667.2_Missense_Mutation_p.N971S|BNC2_ENST00000545497.1_Missense_Mutation_p.N943S	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	22	29	0	75	1038					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGGCAAATGTTGCACATGAT	0.512000													1	1	1	1	1	1	1.000000	22	30	0	86	0	1.858586e-01	0	2	0	86	5
SLC24A2	25769	broad.mit.edu	37	9	19786016	19786016	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:19786016G>A	ENST00000341998.2	-	1	910	c.849C>T	c.(847-849)aaC>aaT	p.N283N	SLC24A2_ENST00000286344.3_Silent_p.N283N	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	37	54	0	87	283					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTACTTGGACGTTGAATTTCA	0.408000													1	1	1	1	1	1	1.000000	42	58	0	96	0	0	0	0	0	96	5
RASEF	158158	broad.mit.edu	37	9	85615415	85615415	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:85615415T>C	ENST00000376447.3	-	11	1768	c.1508A>G	c.(1507-1509)cAa>cGa	p.Q503R		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	4	22	0	69	503					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AACAGACCCTTGGGGCTTCCA	0.443000													1	0	1	1	1	1	0.943789	5	23	0	75	0	0	0	0	0	75	4
FANCC	2176	broad.mit.edu	37	9	97912337	97912337	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:97912337C>T	ENST00000289081.3	-	7	808	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	FANCC_ENST00000375305.1_Missense_Mutation_p.R185Q	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	9	8	0	57	185					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GACACAAACTCGTGACAGGGA	0.473000			D, Mis, N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				1	1	1	1	1	1	0.999152	10	9	0	76	1	9.999991e-01	25	24	0	76	5
UAP1L1	91373	broad.mit.edu	37	9	139972957	139972957	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr9:139972957C>T	ENST00000409858.3	+	3	530	c.498C>T	c.(496-498)taC>taT	p.Y166Y	UAP1L1_ENST00000360271.3_Silent_p.Y43Y|UAP1L1_ENST00000476184.1_3'UTR	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like 1	13	18	0	109	166							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	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)		CTTGCAGGTACGTCATGACCA	0.667000													1	1	1	1	1	1	0.999869	13	19	0	121	1	9.995649e-01	9	18	0	121	5
ZEB1	6935	broad.mit.edu	37	10	31815734	31815734	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:31815734G>A	ENST00000446923.2	+	9	3260	c.2869G>A	c.(2869-2871)Ggg>Agg	p.G957R	ZEB1_ENST00000542815.3_Missense_Mutation_p.G906R|ZEB1_ENST00000560721.2_Missense_Mutation_p.G953R|ZEB1_ENST00000361642.5_Missense_Mutation_p.G974R|ZEB1_ENST00000320985.10_Missense_Mutation_p.G973R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	32	0	0	54	973					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.G973W(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTCACACTCTGGGTCTTATTC	0.443000													1	1	1	1	1	1	1.000000	32	0	0	55	1	1	13	2	0	55	5
ANK3	288	broad.mit.edu	37	10	61829384	61829384	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:61829384C>A	ENST00000280772.1	-	37	11446	c.11255G>T	c.(11254-11256)tGt>tTt	p.C3752F	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	54	6	0	113	3752					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAATCCCTGACAACTGGTCAT	0.398000													1	1	1	1	1	1	1.000000	58	6	0	125	0	0	0	0	0	125	5
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	40	1	0	106	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*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		AGGACCCACACGACGGGAAGA	0.423000	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	1	1	1	1	1	1.000000	44	2	0	119	1	1	68	11	0	119	5
KNDC1	85442	broad.mit.edu	37	10	135000063	135000063	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:135000063G>A	ENST00000304613.3	+	6	1232	c.1211G>A	c.(1210-1212)gGg>gAg	p.G404E	KNDC1_ENST00000368572.2_Missense_Mutation_p.G404E|KNDC1_ENST00000368571.2_Missense_Mutation_p.G339E			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	38	2	0	110	404					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		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)		CCCAGCCAGGGGCCAGCAGAG	0.662000													1	1	1	1	1	1	1.000000	44	2	0	128	1	9.999999e-01	10	0	0	128	5
CDHR5	53841	broad.mit.edu	37	11	619490	619490	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:619490C>A	ENST00000358353.3	-	12	1599	c.1277G>T	c.(1276-1278)gGa>gTa	p.G426V	CDHR5_ENST00000397542.2_Missense_Mutation_p.G426V|CDHR5_ENST00000349570.7_Missense_Mutation_p.G426V			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	45	2	0	124	426	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTAGAAGGCTCCCGCCTGTGC	0.607000													1	1	1	1	1	1	1.000000	53	3	0	147	0	0	0	0	0	147	5
MUC2	4583	broad.mit.edu	37	11	1083268	1083268	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:1083268G>A	ENST00000441003.2	+	16	2195	c.2168G>A	c.(2167-2169)cGc>cAc	p.R723H	MUC2_ENST00000359061.5_Missense_Mutation_p.R723H	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	6	11	0	59	723						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		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)	TGTTACCACCGCGGTCTCTAC	0.682000													1	0	1	1	1	1	0.994690	8	11	0	64	0	0	0	0	0	64	4
COPB1	1315	broad.mit.edu	37	11	14481798	14481798	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:14481798G>A	ENST00000249923.3	-	20	2902	c.2602C>T	c.(2602-2604)Cac>Tac	p.H868Y	COPB1_ENST00000439561.2_Missense_Mutation_p.H868Y	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	14	0	1	34	868					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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTTAATATGTGCTGTAAGTAG	0.358000													1	0	1	1	1	1	1.000000	17	0	1	40	1	1	212	4	1	40	4
ATL3	25923	broad.mit.edu	37	11	63438805	63438805	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:63438805C>T	ENST00000332645.4	-	2	158	c.159G>A	c.(157-159)atG>atA	p.M53I	ATL3_ENST00000398868.3_Start_Codon_SNP_p.M1I|ATL3_ENST00000535789.1_5'UTR|ATL3_ENST00000538786.1_Intron			Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	3	17	0	30	1					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						GAGGGGACAACATGGAGCCTC	0.687000													0	0	1	0	0	1	0.813008	3	19	0	35	1	9.956086e-01	22	77	0	35	1
AIP	9049	broad.mit.edu	37	11	67254583	67254583	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:67254583A>G	ENST00000279146.3	+	2	324	c.206A>G	c.(205-207)aAg>aGg	p.K69R		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	70	102	0	243	69	PPIase FKBP-type.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						AAGAAGTTCAAGCTGCCTGTG	0.592000									Familial Isolated Pituitary Adenoma				1	1	1	1	1	1	1.000000	79	112	0	263	1	1	196	211	0	263	5
MYO7A	4647	broad.mit.edu	37	11	76877132	76877132	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr11:76877132A>G	ENST00000409709.3	+	15	1993	c.1721A>G	c.(1720-1722)cAt>cGt	p.H574R	MYO7A_ENST00000409893.1_Missense_Mutation_p.H574R|MYO7A_ENST00000458637.2_Missense_Mutation_p.H574R|MYO7A_ENST00000409619.2_Missense_Mutation_p.H563R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	10	33	0	55	574	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			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GACACCCTGCATGGGGACATT	0.562000													1	1	1	1	1	1	0.999020	11	35	0	61	0	0	0	0	0	61	5
DNAJC14	85406	broad.mit.edu	37	12	56221932	56221932	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:56221932A>G	ENST00000357606.3	-	3	800	c.511T>C	c.(511-513)Tat>Cat	p.Y171H	DNAJC14_ENST00000317287.5_Missense_Mutation_p.Y171H|DNAJC14_ENST00000317269.3_Missense_Mutation_p.Y171H			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	40	42	0	74	171					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						TCATCATCATATTCCTCTTCC	0.502000													1	1	1	1	1	1	1.000000	43	45	0	76	1	1	38	42	0	76	5
APAF1	317	broad.mit.edu	37	12	99053108	99053108	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:99053108C>T	ENST00000357310.1	+	5	1274	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	APAF1_ENST00000547045.1_Missense_Mutation_p.R233C|APAF1_ENST00000549007.1_Missense_Mutation_p.R233C|APAF1_ENST00000359972.2_Missense_Mutation_p.R222C|APAF1_ENST00000333991.1_Missense_Mutation_p.R233C|APAF1_ENST00000552268.1_Missense_Mutation_p.R233C|APAF1_ENST00000551964.1_Missense_Mutation_p.R233C|APAF1_ENST00000550527.1_Missense_Mutation_p.R222C|APAF1_ENST00000339433.3_Missense_Mutation_p.R233C	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	12	10	0	77	233	NB-ARC.				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			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCTGATGCTTCGCAAACACCC	0.453000													1	1	1	1	1	1	0.999930	13	11	0	81	1	9.960433e-01	4	9	0	81	5
LRRC43	254050	broad.mit.edu	37	12	122672355	122672355	+	Silent	SNP	C	C	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:122672355C>A	ENST00000339777.4	+	4	658	c.630C>A	c.(628-630)ccC>ccA	p.P210P	LRRC43_ENST00000425921.1_Silent_p.P25P	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	25	12	0	131	210										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	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)		TTCTAGGCCCCTTGGAAAGTC	0.562000													1	1	1	1	1	1	1.000000	32	14	0	154	0	4.770408e-01	1	1	0	154	5
POLE	5426	broad.mit.edu	37	12	133225985	133225985	+	Silent	SNP	G	G	A	rs116482376	by1000genomes	TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:133225985G>A	ENST00000320574.5	-	31	3955	c.3912C>T	c.(3910-3912)ccC>ccT	p.P1304P	POLE_ENST00000535270.1_Silent_p.P1277P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	34	38	0	79	1304					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			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	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)		GGATGGCCCCGGGCCTGAGCA	0.662000								DNA polymerases (catalytic subunits)					1	1	1	1	1	1	1.000000	37	41	0	92	1	1	35	52	0	92	5
PABPC3	5042	broad.mit.edu	37	13	25670421	25670421	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr13:25670421G>A	ENST00000281589.3	+	1	122	c.85G>A	c.(85-87)Gag>Aag	p.E29K		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	55	55	0	128	29	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		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)		GATGCTCTACGAGAAGTTCAG	0.627000													1	1	1	1	1	1	1.000000	59	58	0	134	0	0	0	0	0	134	5
DIS3	22894	broad.mit.edu	37	13	73346315	73346315	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr13:73346315G>A	ENST00000377767.4	-	10	1585	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L	DIS3_ENST00000545453.1_Silent_p.L333L|DIS3_ENST00000377780.4_Silent_p.L465L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	19	20	0	26	495					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)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTCCATTTTCGAGTTCTCGAC	0.363000										Multiple Myeloma(4;0.011)			1	1	1	1	1	1	1.000000	23	21	0	29	1	1	43	54	0	29	5
ACIN1	22985	broad.mit.edu	37	14	23530753	23530753	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:23530753G>A	ENST00000262710.1	-	17	3679	c.3352C>T	c.(3352-3354)Cac>Tac	p.H1118Y	ACIN1_ENST00000557515.1_Missense_Mutation_p.H359Y|ACIN1_ENST00000357481.2_Missense_Mutation_p.H360Y|ACIN1_ENST00000338631.6_Missense_Mutation_p.H391Y|ACIN1_ENST00000555053.1_Missense_Mutation_p.H1105Y|ACIN1_ENST00000457657.1_Missense_Mutation_p.H1078Y|ACIN1_ENST00000397341.3_Missense_Mutation_p.H360Y|ACIN1_ENST00000605057.1_Missense_Mutation_p.H1060Y	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	6	6	0	24	1118	Pro-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGTGGGGGGTGCAGGGGCCGT	0.662000													1	1	1	1	0	1	0.994690	8	11	0	24	1	9.999989e-01	45	31	0	24	4
MYH7	4625	broad.mit.edu	37	14	23891485	23891485	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:23891485C>T	ENST00000355349.3	-	25	3311	c.3149G>A	c.(3148-3150)cGa>cAa	p.R1050Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	25	23	0	82	1050					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			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCGCTTCGCTCGCTCCAGGTC	0.577000													1	1	1	1	1	1	1.000000	27	27	0	90	0	0	0	0	0	90	5
NYNRIN	57523	broad.mit.edu	37	14	24885925	24885925	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:24885925C>T	ENST00000382554.3	+	9	5288	c.4970C>T	c.(4969-4971)aCg>aTg	p.T1657M		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	22	22	0	69	1657	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TACACACACACGGCTGTGGCC	0.602000													1	1	1	1	1	1	1.000000	23	24	0	74	1	9.999999e-01	19	25	0	74	5
FAM179B	23116	broad.mit.edu	37	14	45481246	45481246	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:45481246T>A	ENST00000361462.2	+	7	3389	c.3206T>A	c.(3205-3207)aTt>aAt	p.I1069N	FAM179B_ENST00000382233.2_Missense_Mutation_p.N991K|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.I1069N			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	4	44	0	37	1069	Ser-rich.						binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AAGAAAAAAATTTCTCATATT	0.294000													1	0	1	1	0	1	0.940593	5	50	0	39	1	2.085446e-01	2	6	0	39	3
WDHD1	11169	broad.mit.edu	37	14	55429738	55429738	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:55429738G>A	ENST00000360586.3	-	19	2528	c.2463C>T	c.(2461-2463)gcC>gcT	p.A821A	WDHD1_ENST00000359167.4_Silent_p.A339A|WDHD1_ENST00000420358.2_Silent_p.A698A|WDHD1_ENST00000421192.1_Silent_p.A698A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	12	13	0	32	821						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTGTCAATTCGGCTGCCTTCT	0.383000													1	1	1	1	1	1	0.999791	12	13	0	32	1	1	60	43	0	32	5
DLST	1743	broad.mit.edu	37	14	75359578	75359578	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:75359578G>A	ENST00000334220.4	+	8	545	c.484G>A	c.(484-486)Gca>Aca	p.A162T	DLST_ENST00000334212.6_Missense_Mutation_p.A76T|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	26	39	0	64	162					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TCCTGCTGCTGCAGCCCCAAA	0.572000													1	1	1	1	1	1	1.000000	31	42	0	71	1	1	44	59	0	71	5
KLC1	3831	broad.mit.edu	37	14	104124027	104124027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:104124027C>T	ENST00000389744.4	+	3	675	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	RP11-73M18.2_ENST00000472726.2_Nonsense_Mutation_p.Q308*|KLC1_ENST00000452929.2_Nonsense_Mutation_p.Q136*|KLC1_ENST00000557575.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000348520.6_Nonsense_Mutation_p.Q136*|KLC1_ENST00000380038.3_Nonsense_Mutation_p.Q136*|KLC1_ENST00000555836.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000347839.6_Nonsense_Mutation_p.Q136*|KLC1_ENST00000334553.6_Nonsense_Mutation_p.Q136*|KLC1_ENST00000246489.7_Nonsense_Mutation_p.Q136*|KLC1_ENST00000554280.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000445352.4_Nonsense_Mutation_p.Q136*|KLC1_ENST00000553286.1_Nonsense_Mutation_p.Q136*|KLC1_ENST00000557450.1_Nonsense_Mutation_p.Q136*			Q07866	KLC1_HUMAN	kinesin light chain 1	27	74	0	85	136					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GAAGAGTGAGCAGTCTGTGGC	0.507000													1	1	1	1	0	1	0.999999	31	86	1	100	0	1	0	292	1	100	4
AKAP13	11214	broad.mit.edu	37	15	86122535	86122535	+	Silent	SNP	G	G	A	rs140888795		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr15:86122535G>A	ENST00000394518.2	+	7	1331	c.1236G>A	c.(1234-1236)acG>acA	p.T412T	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.T412T	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	42	44	0	132	412					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			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TAAAGGGCACGGAAGGCCTTT	0.512000													1	0	1	1	0	1	1.000000	44	47	0	143	1	9.819678e-01	6	4	0	143	3
AKAP13	11214	broad.mit.edu	37	15	86259071	86259071	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr15:86259071C>T	ENST00000394518.2	+	20	5747	c.5652C>T	c.(5650-5652)acC>acT	p.T1884T	AKAP13_ENST00000361243.2_Silent_p.T1888T|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Silent_p.T129T	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	14	47	0	113	1884					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			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGGATGAAACCGCTACCACCC	0.517000													1	1	1	1	1	1	0.999970	16	52	0	126	1	9.944230e-01	6	26	0	126	5
CACNA1H	8912	broad.mit.edu	37	16	1270130	1270130	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:1270130C>T	ENST00000348261.5	+	35	6446	c.6198C>T	c.(6196-6198)agC>agT	p.S2066S	CACNA1H_ENST00000358590.4_Silent_p.S2060S|CACNA1H_ENST00000565831.1_Silent_p.S2060S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	16	4	0	22	2066					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(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGCCCGCCAGCGTCCGCACTC	0.721000													1	1	1	1	1	1	1.000000	18	5	0	23	1	1	53	39	0	23	5
CREBBP	1387	broad.mit.edu	37	16	3900479	3900479	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:3900479G>A	ENST00000262367.5	-	2	1426	c.617C>T	c.(616-618)gCg>gTg	p.A206V	CREBBP_ENST00000382070.3_Missense_Mutation_p.A206V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	27	48	0	105	206					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			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CATGACTTGCGCCTGCCCTTG	0.552000			T, N, F, Mis, O	MLL, MORF, RUNXBP2	ALL, AML, DLBCL, B-NHL		Rubinstein-Taybi syndrome						1	1	1	1	1	1	1.000000	28	51	0	119	1	1	16	66	0	119	5
XYLT1	64131	broad.mit.edu	37	16	17292083	17292083	+	Silent	SNP	G	G	A	rs149300797		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:17292083G>A	ENST00000261381.6	-	5	1359	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	11	66	0	74	425					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGGGGTAGTCGGCCGCACTCA	0.622000													1	1	1	1	1	1	0.999839	14	75	0	83	1	5.507629e-01	2	9	0	83	5
USP31	57478	broad.mit.edu	37	16	23080502	23080502	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:23080502C>T	ENST00000219689.7	-	16	2923	c.2924G>A	c.(2923-2925)cGc>cAc	p.R975H	USP31_ENST00000567975.1_Missense_Mutation_p.R268H	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	40	52	0	126	975	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R975H(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CGGGGGCAGGCGGTCCCCTTG	0.517000													1	1	1	1	1	1	1.000000	42	57	0	138	1	9.998187e-01	9	14	0	138	5
PRPF8	10594	broad.mit.edu	37	17	1582969	1582969	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:1582969G>A	ENST00000572621.1	-	8	1488	c.1223C>T	c.(1222-1224)cCg>cTg	p.P408L	PRPF8_ENST00000304992.6_Missense_Mutation_p.P408L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	97	5	0	260	408						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAAGGGCCGCGGGGCCCAGAG	0.572000													1	1	1	1	1	1	1.000000	107	5	0	278	1	1	157	1	0	278	5
CXCL16	58191	broad.mit.edu	37	17	4638656	4638656	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:4638656C>T	ENST00000293778.6	-	4	928	c.506G>A	c.(505-507)cGc>cAc	p.R169H	CXCL16_ENST00000574412.1_Missense_Mutation_p.R169H|CXCL16_ENST00000576153.1_5'UTR	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	3	24	0	81	150					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			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						GAGGGTGGGGCGCTGAGTGGA	0.597000													0	0	1	0	1	1	0.812770	3	27	0	93	1	9.894856e-01	13	89	0	93	2
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	rs28934571		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:7577534C>A	ENST00000420246.2	-	7	879	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000269305.4_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	21	1	0	85	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TGAGGATGGGCCTCCGGTTCA	0.572000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	24	2	0	104	1	1	100	1	0	104	5
SRCIN1	80725	broad.mit.edu	37	17	36707584	36707584	+	Silent	SNP	G	G	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:36707584G>T	ENST00000264659.7	-	15	2993	c.2769C>A	c.(2767-2769)acC>acA	p.T923T	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Silent_p.T957T	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	20	20	0	26	795					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			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CACTGTACTGGGTCAGGGCTG	0.617000													1	1	1	1	1	1	1.000000	22	23	0	27	1	1	64	45	0	27	5
HELZ	9931	broad.mit.edu	37	17	65134211	65134211	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:65134211C>T	ENST00000358691.5	-	22	2955	c.2789G>A	c.(2788-2790)cGt>cAt	p.R930H	HELZ_ENST00000580168.1_Missense_Mutation_p.R931H	NM_014877.3	NP_055692.2			helicase with zinc finger	48	2	0	77											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTCTTCTACACGTTCCACCAC	0.368000													1	1	1	1	1	1	1.000000	54	2	0	85	1	1	25	1	0	85	5
ATP5H	10476	broad.mit.edu	37	17	73036197	73036197	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:73036197T>C	ENST00000301587.4	-	4	328	c.281A>G	c.(280-282)gAa>gGa	p.E94G	KCTD2_ENST00000581589.1_Intron|KCTD2_ENST00000584767.1_Intron|ATP5H_ENST00000344546.4_Intron	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	124	80	0	221	94					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2	all_lung(278;0.226)					ATCTTCTTTTTCTTCGGCATC	0.408000													1	1	1	1	1	1	1.000000	141	91	0	257	1	1	598	416	0	257	5
KIAA0195	9772	broad.mit.edu	37	17	73492436	73492436	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr17:73492436G>A	ENST00000314256.7	+	24	3521	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T	KIAA0195_ENST00000375248.5_Missense_Mutation_p.A1053T|KIAA0195_ENST00000579208.1_Missense_Mutation_p.A694T	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	15	131	0	100	1043					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	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)			CATCAGCATGGCCCAGGCCTC	0.617000													1	1	1	1	1	1	0.999975	17	139	0	115	0	9.999998e-01	0	257	0	115	5
TYMS	7298	broad.mit.edu	37	18	672902	672902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr18:672902C>T	ENST00000323274.10	+	7	986	c.847C>T	c.(847-849)Cga>Tga	p.R283*	TYMS_ENST00000323250.5_Nonsense_Mutation_p.R200*|ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000323224.7_Nonsense_Mutation_p.R249*|ENOSF1_ENST00000383578.3_3'UTR|TYMS_ENST00000581920.1_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	36	37	0	97	283					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	p.R283*(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	CAGGATTCTTCGAAAAGTTGA	0.393000													1	1	1	1	1	1	1.000000	38	39	0	105	1	1	268	506	0	105	5
DSC2	1824	broad.mit.edu	37	18	28651725	28651725	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr18:28651725G>A	ENST00000280904.6	-	13	2414	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	DSC2_ENST00000251081.6_Silent_p.G657G	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	14	16	0	42	657	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CACTAGACATGCCAAGTCTAT	0.413000													1	1	1	1	1	1	0.999950	14	17	0	45	0	0	0	0	0	45	5
DYNAP	284254	broad.mit.edu	37	18	52265364	52265364	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr18:52265364C>T	ENST00000321600.1	+	3	667	c.621C>T	c.(619-621)acC>acT	p.T207T	DYNAP_ENST00000585973.1_Silent_p.T155T	NM_173629.1	NP_775900.1			dynactin associated protein	35	44	0	83																		TTGCACCTACCGATCATTTAT	0.428000													1	1	1	1	1	1	1.000000	36	45	0	93	0	0	0	0	0	93	5
ALPK2	115701	broad.mit.edu	37	18	56274661	56274661	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr18:56274661C>T	ENST00000361673.3	-	3	333	c.120G>A	c.(118-120)aaG>aaA	p.K40K		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	16	18	0	39	40	Ig-like 1.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTACCTCTGGCTTGGGCTGAC	0.348000													1	1	1	1	1	1	0.999996	17	18	0	41	0	0	0	0	0	41	5
ZNF536	9745	broad.mit.edu	37	19	31040264	31040264	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:31040264G>A	ENST00000355537.3	+	4	3885	c.3738G>A	c.(3736-3738)gcG>gcA	p.A1246A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	36	20	0	46	1246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A1246A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCCCTTGGCGGGCCTGCCAA	0.632000													1	1	1	1	1	1	1.000000	37	20	0	47	0	0	1	0	0	47	5
FCGBP	8857	broad.mit.edu	37	19	40368843	40368843	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:40368843C>T	ENST00000221347.6	-	28	12512	c.12505G>A	c.(12505-12507)Gtg>Atg	p.V4169M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	28	320	0	343	4169	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	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)			CCGTCGGCCACGGAGACAGGC	0.617000													1	0	1	1	0	1	1.000000	30	354	0	366	0	1.879248e-02	0	3	0	366	3
ZNF574	64763	broad.mit.edu	37	19	42584536	42584536	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:42584536G>A	ENST00000600245.1	+	2	2433	c.1778G>A	c.(1777-1779)cGc>cAc	p.R593H	ZNF574_ENST00000222339.7_Missense_Mutation_p.R683H|ZNF574_ENST00000359044.4_Missense_Mutation_p.R593H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	41	86	0	110	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CGTCCTTACCGCCTGCTCATG	0.612000													1	1	1	1	1	1	1.000000	44	88	0	123	1	1	28	96	0	123	5
PRKD2	25865	broad.mit.edu	37	19	47207822	47207822	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:47207822G>A	ENST00000433867.1	-	5	1073	c.596C>T	c.(595-597)aCg>aTg	p.T199M	PRKD2_ENST00000595515.1_Missense_Mutation_p.T199M|PRKD2_ENST00000601806.1_Missense_Mutation_p.T42M|PRKD2_ENST00000600194.1_Missense_Mutation_p.T42M|PRKD2_ENST00000291281.4_Missense_Mutation_p.T199M	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	14	79	0	68	199					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			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		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)		GGCCAGAGACGTGGATGACAG	0.667000											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999830	14	85	0	73	1	9.999116e-01	16	92	0	73	5
BCAT2	587	broad.mit.edu	37	19	49303509	49303509	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:49303509G>A	ENST00000402551.1	-	5	846	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	BCAT2_ENST00000597011.1_Missense_Mutation_p.R76C|BCAT2_ENST00000545387.2_Missense_Mutation_p.R24C|BCAT2_ENST00000599246.1_Missense_Mutation_p.R24C|BCAT2_ENST00000316273.6_Missense_Mutation_p.R116C|BCAT2_ENST00000598162.1_Missense_Mutation_p.R116C			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	19	99	0	61	116						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		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)	CGGAAGAGGCGCACCTGCTGG	0.657000													1	1	1	1	1	1	0.999997	20	107	0	64	1	1	29	227	0	64	5
ZNF83	55769	broad.mit.edu	37	19	53116462	53116462	+	Silent	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:53116462A>G	ENST00000597597.1	-	2	3609	c.1356T>C	c.(1354-1356)acT>acC	p.T452T	ZNF83_ENST00000541777.2_Silent_p.T452T|ZNF83_ENST00000544146.1_Silent_p.T452T|ZNF83_ENST00000536937.1_Silent_p.T452T|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Silent_p.T452T|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.T424T|ZNF83_ENST00000301096.3_Silent_p.T452T			P51522	ZNF83_HUMAN	zinc finger protein 83	41	211	0	116	452						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		GTTTCTCTCCAGTGTGAATTT	0.388000													1	1	1	1	1	1	1.000000	45	233	0	131	1	1	63	240	0	131	5
ZNF71	58491	broad.mit.edu	37	19	57133398	57133398	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:57133398G>A	ENST00000328070.6	+	3	977	c.743G>A	c.(742-744)gGc>gAc	p.G248D		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	44	86	0	101	248						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGGGACTGCGGCAAGGCCTTC	0.662000													1	1	1	1	1	1	1.000000	47	94	0	111	1	1	25	39	0	111	5
FOXA2	3170	broad.mit.edu	37	20	22563241	22563241	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr20:22563241G>C	ENST00000419308.2	-	2	823	c.621C>G	c.(619-621)atC>atG	p.I207M	FOXA2_ENST00000377115.4_Missense_Mutation_p.I207M|FOXA2_ENST00000319993.4_Missense_Mutation_p.I213M	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	61	30	0	140	207					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			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GCGAGTGGCGGATGGAGTTCT	0.617000													1	1	1	1	1	1	1.000000	64	61	0	150	0	0	0	0	0	150	5
HNF4A	3172	broad.mit.edu	37	20	43043173	43043173	+	Silent	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr20:43043173C>T	ENST00000316099.3	+	5	608	c.519C>T	c.(517-519)aaC>aaT	p.N173N	HNF4A_ENST00000415691.1_Silent_p.N173N|HNF4A_ENST00000443598.2_Silent_p.N173N|HNF4A_ENST00000457232.1_Silent_p.N151N	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	25	47	0	80	173					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			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGGGATCAACGGCGACATTC	0.582000													1	1	1	1	1	1	1.000000	31	54	0	88	0	0	1	0	0	88	5
TUBB1	81027	broad.mit.edu	37	20	57599552	57599552	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr20:57599552C>T	ENST00000217133.1	+	4	1339	c.1070C>T	c.(1069-1071)cCg>cTg	p.P357L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	32	48	1	73	357					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TGCGACATCCCGCCCCGGGGG	0.552000													1	0	1	1	1	1	1.000000	33	50	1	80	1	1.627907e-01	2	0	1	80	4
CDH26	60437	broad.mit.edu	37	20	58587675	58587675	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr20:58587675A>G	ENST00000348616.4	+	18	2689	c.2389A>G	c.(2389-2391)Agc>Ggc	p.S797G	CDH26_ENST00000244047.5_Intron|CDH26_ENST00000350849.6_Missense_Mutation_p.S130G|CDH26_ENST00000244049.3_Missense_Mutation_p.S89G|CDH26_ENST00000497614.1_3'UTR	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	65	35	0	106	256					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CCCATCCCTCAGCTCTCTGGC	0.537000													1	1	1	1	1	1	1.000000	70	38	0	123	0	0	0	0	0	123	5
CHRNA4	1137	broad.mit.edu	37	20	61981956	61981956	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr20:61981956G>A	ENST00000370263.4	-	5	1028	c.807C>T	c.(805-807)tcC>tcT	p.S269S	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	20	83	0	74	269					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			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CGCCACACTCGGAGGGCAGGT	0.602000													1	1	1	1	1	1	0.999998	20	86	0	75	1	7.700179e-01	5	9	0	75	5
MED12	9968	broad.mit.edu	37	X	70344032	70344032	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:70344032C>T	ENST00000333646.6	+	13	1967	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	MED12_ENST00000374080.3_Missense_Mutation_p.R590W|MED12_ENST00000374102.1_Missense_Mutation_p.R590W	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	22	29	0	59	590					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			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGAGAGTGAGCGGGTGGAATT	0.473000			M, S		uterine leiomyoma		Opitz-Kaveggia Syndrome						1	1	1	1	1	1	1.000000	24	31	0	69	1	1	84	2	0	69	5
TMSB15B	286527	broad.mit.edu	37	X	103219162	103219162	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:103219162A>G	ENST00000567181.1	+	2	139	c.67A>G	c.(67-69)Act>Gct	p.T23A	TMSB15B_ENST00000419165.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000569577.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000436583.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000563257.1_Missense_Mutation_p.T23A|TMSB15B_ENST00000540220.1_Missense_Mutation_p.T23A			P0CG34	TB15A_HUMAN	thymosin beta 15B	37	34	0	59	23					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			skin(1)	1						GAAAACTAATACTGAAGAAAA	0.353000													1	1	1	1	1	1	1.000000	40	36	0	63	0	7.198547e-01	0	4	0	63	5
MAGEA3	4102	broad.mit.edu	37	X	151935381	151935381	+	Silent	SNP	G	G	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:151935381G>A	ENST00000393902.3	-	3	1353	c.786C>T	c.(784-786)ccC>ccT	p.P262P	MAGEA3_ENST00000370278.3_Silent_p.P262P			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	59	179	0	254	262	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GATCACTGCCGGGGACCTGCC	0.527000													1	1	1	1	1	1	1.000000	62	201	0	274	0	0	0	0	0	274	5
F8	2157	broad.mit.edu	37	X	154157053	154157053	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:154157053C>T	ENST00000360256.4	-	14	5212	c.5012G>A	c.(5011-5013)cGt>cAt	p.R1671H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	42	43	0	89	1671					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			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	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)	AAGAGTAGTACGAGTTATTTC	0.408000													1	1	1	1	1	1	1.000000	44	49	0	99	0	2.269737e-01	0	2	0	99	5
WDTC1	23038	broad.mit.edu	37	1	27621108	27621108	+	Frame_Shift_Del	DEL	G	G	-	rs145339479		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:27621108delG	ENST00000319394.3	+	9	1396	c.861delG	c.(859-861)atfs	p.M287fs	WDTC1_ENST00000361771.3_Frame_Shift_Del_p.M287fs	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	17	30	1	46	287							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		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)		TAGTCAACATGGGGGGGGAAC	0.537000													1	0	0	1	0	1	0.993415	17	47	1	49	0	9.879663e-01	4	48	1	49	2
LRRC41	10489	broad.mit.edu	37	1	46751419	46751421	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			AGA	-	AGA	AGA		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:46751419_46751421delAGA	ENST00000343304.6	-	4	1393_1395	c.1108_1110delTCT	c.(1108-1110)del	p.S370del	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	24	119	0	185	370										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATGAGGATGTAGAAGAAGAGGCA	0.606000													1	1	1	1	0	1	1.000000	25	147	0	185	1	9.998510e-01	9	77	0	185	4
FPGT-TNNI3K	0	broad.mit.edu	37	1	74797186	74797186	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr1:74797186delT	ENST00000370895.1	+	8	835	c.800delT	c.(799-801)gtfs	p.V267fs	TNNI3K_ENST00000326637.3_Frame_Shift_Del_p.V166fs|TNNI3K_ENST00000370891.2_Frame_Shift_Del_p.V267fs|FPGT-TNNI3K_ENST00000370899.3_Frame_Shift_Del_p.V267fs|FPGT-TNNI3K_ENST00000557284.1_Frame_Shift_Del_p.V267fs			Q59H18	TNI3K_HUMAN		12	11	0	18	166						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										CAAGATGCAGTTTTTTTCACT	0.398000													0	1	1	1	0	1	0.999648	12	23	0	19	0	1.294452e-01	0	2	0	19	3
LHCGR	3973	broad.mit.edu	37	2	48925846	48925846	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr2:48925846delT	ENST00000294954.7	-	9	795	c.774delA	c.(772-774)aafs	p.K258fs	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Intron|LHCGR_ENST00000405626.1_Frame_Shift_Del_p.K258fs|LHCGR_ENST00000403273.1_Frame_Shift_Del_p.K258fs|LHCGR_ENST00000401907.1_Frame_Shift_Del_p.K258fs	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	13	37	0	80	258					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		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)	TTGATGGCAATTTTTTTAGAG	0.453000													1	1	1	1	0	1	0.999725	13	51	0	81							4
KALRN	8997	broad.mit.edu	37	3	124157839	124157840	+	Frame_Shift_Ins	INS	-	-	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:124157839_124157840insC	ENST00000360013.3	+	18	3274_3275	c.3147_3148insC	c.(3145-3150)atccctfs	p.IP1049fs	KALRN_ENST00000240874.3_Frame_Shift_Ins_p.IP1049fs|KALRN_ENST00000460856.1_Frame_Shift_Ins_p.IP1040fs	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	22	27	0	54	1049					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			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACCATGTCATTCCCCTCATCAG	0.525000													1	1	1	1	0	1	1.000000	22	49	0	54	0	2.384302e-01	0	3	0	54	4
TNK2	10188	broad.mit.edu	37	3	195595229	195595229	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr3:195595229delG	ENST00000333602.6	-	12	2512	c.1895delC	c.(1894-1896)cgfs	p.P633fs	TNK2_ENST00000392400.1_Frame_Shift_Del_p.P633fs|TNK2_ENST00000381916.2_Frame_Shift_Del_p.P711fs|TNK2_ENST00000428187.1_Frame_Shift_Del_p.P665fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	16	24	0	70	633	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			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			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	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)	ATAGGCGGGCGGGGGGGGCAG	0.726000													1	0	0	1	0	1	0.999975	16	41	0	74	1	9.960799e-01	4	24	0	74	2
SULT1B1	27284	broad.mit.edu	37	4	70620807	70620807	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr4:70620807delT	ENST00000310613.2	-	2	426	c.129delA	c.(127-129)atfs	p.I43fs		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	62	50	0	134	43					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GATAAGTGGCTATCACAATGT	0.408000													1	1	1	1	0	1	1.000000	62	112	0	136							4
NIPBL	25836	broad.mit.edu	37	5	37008133	37008134	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr5:37008133_37008134insT	ENST00000282516.8	+	19	4762_4763	c.4263_4264insT	c.(4261-4266)ccttttfs	p.PF1421fs	NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.PF1421fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	8	28	0	55	1421					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	p.F1423fs*15(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	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)			GAATAACACCATTTTTTGTGGA	0.302000													1	0	0	1	0	1	0.991705	8	36	0	57	1	9.863273e-01	6	33	0	57	2
ANKIB1	54467	broad.mit.edu	37	7	91936913	91936914	+	Frame_Shift_Ins	INS	-	-	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr7:91936913_91936914insA	ENST00000265742.3	+	3	805_806	c.429_430insA	c.(427-432)aaaaaafs	p.KK143fs		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	17	44	0	53	143							protein binding|zinc ion binding	p.N146fs*12(2)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	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)			CTGTTGATAACAAAAAAAACAC	0.361000													1	1	1	1	0	1	0.999983	17	65	0	56	1	9.995997e-01	9	48	0	56	4
ARHGAP12	94134	broad.mit.edu	37	10	32197365	32197366	+	Frame_Shift_Ins	INS	-	-	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr10:32197365_32197366insA	ENST00000375250.5	-	3	659_660	c.418_419insT	c.(418-420)taafs	p.*140fs	ARHGAP12_ENST00000396144.4_Frame_Shift_Ins_p.*140fs|ARHGAP12_ENST00000375245.4_Frame_Shift_Ins_p.*140fs|ARHGAP12_ENST00000344936.2_Frame_Shift_Ins_p.*140fs|ARHGAP12_ENST00000311380.4_Frame_Shift_Ins_p.*140fs	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	53	6	0	120	140					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				ACCTTGATTATAACTGGGTCCA	0.421000													1	1	1	1	0	1	1.000000	53	59	0	121	1	8.575484e-01	3	3	0	121	4
PDE1B	0	broad.mit.edu	37	12	54971059	54971060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:54971059_54971060insC	ENST00000243052.3	+	15	1994_1995	c.1558_1559insC	c.(1558-1560)cccfs	p.P520fs	PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	42	66	1	295	520					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGAAGAAGAGGCCCCCCCATCC	0.559000													1	0	0	1	0	1	1.000000	42	111	1	308	0	1.620926e-14	0	1	1	308	2
USP15	9958	broad.mit.edu	37	12	62786091	62786091	+	Frame_Shift_Del	DEL	A	A	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr12:62786091delA	ENST00000280377.5	+	18	2402	c.2344delA	c.(2344-2346)aafs	p.K783fs	USP15_ENST00000393654.3_Frame_Shift_Del_p.K758fs|USP15_ENST00000353364.3_Frame_Shift_Del_p.K754fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	13	0	0	27	783					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAAACCTCCTAAAAAACCCTT	0.303000													1	1	1	1	0	1	0.999914	13	13	0	27	1	9.998436e-01	8	16	0	27	4
LATS2	26524	broad.mit.edu	37	13	21562146	21562147	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			CT	-	CT	CT		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr13:21562146_21562147delCT	ENST00000382592.4	-	4	2177_2178	c.1772_1773delAG	c.(1771-1773)gfs	p.E591fs	LATS2_ENST00000542899.1_Frame_Shift_Del_p.E591fs	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	85	99	0	196	591					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			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		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)		TGATGCGTGACTCTCTCTTCTC	0.515000													1	1	1	1	0	1	1.000000	87	184	0	199	1	9.970935e-01	6	16	0	199	4
ZBTB1	22890	broad.mit.edu	37	14	64989787	64989787	+	Frame_Shift_Del	DEL	A	A	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr14:64989787delA	ENST00000358738.3	+	2	1956	c.1565delA	c.(1564-1566)cafs	p.Q522fs	ZBTB1_ENST00000554015.1_Frame_Shift_Del_p.Q522fs|ZBTB1_ENST00000394712.2_Frame_Shift_Del_p.Q522fs|RP11-973N13.4_ENST00000554918.1_RNA	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	30	121	0	150	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		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)		AACAGTATCCAAAAAAAGCAG	0.378000													1	1	0	1	0	1	1.000000	30	154	0	154	1	9.999924e-01	13	86	0	154	3
LTK	4058	broad.mit.edu	37	15	41796335	41796336	+	Frame_Shift_Ins	INS	-	-	G			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr15:41796335_41796336insG	ENST00000263800.6	-	20	2549_2550	c.2453_2454insC	c.(2452-2454)ccafs	p.P818fs	LTK_ENST00000453182.2_Frame_Shift_Ins_p.P688fs|LTK_ENST00000355166.5_Frame_Shift_Ins_p.P757fs|LTK_ENST00000561619.1_Frame_Shift_Ins_p.P516fs	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	20	19	0	78	818					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			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		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)		CCTGGGGCTGTGGGGGTCTTAG	0.604000										TSP Lung(18;0.14)			1	1	1	1	0	1	0.999999	20	40	0	80	1	1	23	78	0	80	4
PTX4	390667	broad.mit.edu	37	16	1536186	1536186	+	Frame_Shift_Del	DEL	G	G	-	rs148668779		TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr16:1536186delG	ENST00000447419.2	-	3	1216	c.1191delC	c.(1189-1191)ccfs	p.P397fs	PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Frame_Shift_Del_p.P392fs			Q96A99	PTX4_HUMAN	pentraxin 4, long	29	42	0	54	397	Pentaxin.					extracellular region	metal ion binding	p.G393fs*57(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGGACCCTCCGGGGGGGATCT	0.667000													1	1	1	1	0	1	1.000000	29	76	0	55	0	8.992806e-14	0	1	0	55	4
SMARCA4	6597	broad.mit.edu	37	19	11141533	11141534	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			TG	-	TG	TG		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:11141533_11141534delTG	ENST00000358026.2	+	25	3794_3795	c.3510_3511delTG	c.(3508-3513)actgfs	p.TV1170fs	SMARCA4_ENST00000450717.3_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000444061.3_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000413806.3_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000590574.1_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000589677.1_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000344626.4_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000429416.3_Frame_Shift_Del_p.TV1170fs|SMARCA4_ENST00000541122.2_Frame_Shift_Del_p.TV1170fs	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	9	1	0	39	1170	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	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGGCAGACACTGTGATCATTTT	0.599000			F, N, Mis		NSCLC								1	0	1	1	0	1	0.997805	9	10	0	39	1	9.998993e-01	12	20	0	39	3
FPR3	2359	broad.mit.edu	37	19	52327267	52327267	+	Frame_Shift_Del	DEL	A	A	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr19:52327267delA	ENST00000339223.4	+	2	445	c.266delA	c.(265-267)gafs	p.E89fs	FPR3_ENST00000595991.1_Frame_Shift_Del_p.E89fs	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	55	217	0	123	89					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GCCATGAGAGAAAAATGGCCT	0.458000													1	1	1	1	0	1	1.000000	55	279	0	124	0	3.945513e-01	0	8	0	124	4
TTC3	7267	broad.mit.edu	37	21	38524243	38524243	+	Frame_Shift_Del	DEL	A	A	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr21:38524243delA	ENST00000399017.2	+	26	5074	c.2327delA	c.(2326-2328)cafs	p.Q776fs	TTC3_ENST00000355666.1_Frame_Shift_Del_p.Q776fs|TTC3_ENST00000354749.2_Frame_Shift_Del_p.Q776fs|TTC3_ENST00000540756.1_Frame_Shift_Del_p.Q466fs|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	8	49	0	58	776					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E779fs*5(2)		breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGAAAGATCCAAAAAAAAGAA	0.343000													0	0	0	1	0	1	0.990854	8	59	0	59	1	9.999730e-01	6	179	0	59	1
PFKL	5211	broad.mit.edu	37	21	45733884	45733885	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			-	TG	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chr21:45733884_45733885insTG	ENST00000403390.1	+	8	868_869	c.868_869insTG	c.(868-870)gtgfs	p.V290fs	PFKL_ENST00000349048.4_Frame_Shift_Ins_p.V243fs|PFKL_ENST00000496824.1_3'UTR			P17858	K6PL_HUMAN	phosphofructokinase, liver	15	10	0	29	243					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			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGAGAACTTCATGTGTGAGAGG	0.668000													1	1	1	1	0	1	0.999967	15	25	0	30	1	1	26	522	0	30	4
YY2	404281	broad.mit.edu	37	X	21875706	21875707	+	Frame_Shift_Ins	INS	-	-	A			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			-	A	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:21875706_21875707insA	ENST00000429584.2	+	1	1602_1603	c.1104_1105insA	c.(1102-1107)acaaaafs	p.TK368fs	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	110	156	0	329	368	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ATGTGAAGACCAAAAACAACCC	0.470000													1	1	1	1	0	1	1.000000	110	273	0	338	1	9.994854e-01	2	29	0	338	4
AMOT	154796	broad.mit.edu	37	X	112035202	112035202	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:112035202delT	ENST00000371959.3	-	6	1783	c.1784delA	c.(1783-1785)agfs	p.K596fs	AMOT_ENST00000524145.1_Frame_Shift_Del_p.K596fs|AMOT_ENST00000304758.1_Frame_Shift_Del_p.K187fs|AMOT_ENST00000371962.1_Frame_Shift_Del_p.K364fs|AMOT_ENST00000371958.1_Frame_Shift_Del_p.K364fs	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	17	63	0	88	596					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	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CACTTGCTTCTTTTTCAGCTG	0.473000													1	1	1	1	0	1	0.999980	17	82	0	88	0	9.241635e-01	0	24	0	88	4
ZNF449	203523	broad.mit.edu	37	X	134494267	134494268	+	Frame_Shift_Ins	INS	-	-	C			TCGA-NA-A4R1-01A-11D-A28R-08	TCGA-NA-A4R1-10A-01D-A28U-08			-	C	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7b5cd9f8-2ef3-4705-871d-9ca861e99a17	dd776c35-4bb8-48e6-a6d6-66963175fafa	g.chrX:134494267_134494268insC	ENST00000339249.4	+	5	963_964	c.823_824insC	c.(823-825)cccfs	p.P275fs		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	52	65	0	147	275					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATGGGAAACCCCCCCAGAG	0.436000													1	1	0	1	0	1	1.000000	52	118	0	151	1	9.963510e-01	8	15	0	151	3
ZMYM1	79830	broad.mit.edu	37	1	35580612	35580612	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:35580612A>G	ENST00000373330.1	+	11	3355	c.3181A>G	c.(3181-3183)Agt>Ggt	p.S1061G	ZMYM1_ENST00000359858.4_Missense_Mutation_p.S1061G|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	39	51	0	115	1061						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGTCTTCACAGTAATATTCC	0.363000													1	1	1	1	1	1	1.000000	41	54	0	122	1	9.972375e-01	3	13	0	122	5
COL24A1	255631	broad.mit.edu	37	1	86210421	86210421	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:86210421G>A	ENST00000370571.2	-	57	4966	c.4600C>T	c.(4600-4602)Cct>Tct	p.P1534S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1513S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	16	37	0	51	1534	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GTGCCAAGAGGATTCTTGATG	0.393000													1	1	1	1	1	1	0.999976	16	40	0	56	0	0	0	0	0	56	5
FLG	2312	broad.mit.edu	37	1	152278698	152278698	+	Silent	SNP	T	T	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:152278698T>G	ENST00000368799.1	-	3	8699	c.8664A>C	c.(8662-8664)ggA>ggC	p.G2888G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	106	325	0	885	2888	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACACTGGATCCCTGGCGCC	0.567000									Ichthyosis				0	0	1	1	0	1	1.000000	107	326	0	460	0	0	0	0	0	460	2
FLG	2312	broad.mit.edu	37	1	152284533	152284533	+	Silent	SNP	T	T	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:152284533T>G	ENST00000368799.1	-	3	2864	c.2829A>C	c.(2827-2829)ggA>ggC	p.G943G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	10	454	0	509	943	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAACACTGGATCCCTGGCGCC	0.567000									Ichthyosis				0	0	1	0	0	1	0.999133	12	493	0	550	1	3.260160e-02	2	9	0	550	1
FLG2	388698	broad.mit.edu	37	1	152325750	152325750	+	Silent	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:152325750G>A	ENST00000388718.5	-	3	4584	c.4512C>T	c.(4510-4512)tcC>tcT	p.S1504S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	95	212	0	353	1504							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTGTCACTGGACTCACTGT	0.502000													1	1	1	1	1	1	1.000000	100	227	0	382	0	5.930946e-01	0	6	0	382	5
GPATCH2	55105	broad.mit.edu	37	1	217793423	217793423	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr1:217793423G>A	ENST00000366935.3	-	2	585	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	GPATCH2_ENST00000366934.3_Missense_Mutation_p.R159C	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	37	32	0	95	159						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CTCCTCCTGCGCAGAGTTCTA	0.473000													1	1	1	1	1	1	1.000000	41	36	0	101	1	9.994549e-01	11	4	0	101	5
NCKAP5	344148	broad.mit.edu	37	2	133541232	133541232	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:133541232C>G	ENST00000409261.1	-	14	3525	c.3152G>C	c.(3151-3153)cGc>cCc	p.R1051P	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.R1051P	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	33	47	1	80	1051							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGTGTTTGGCGAGGAGAGGT	0.557000													1	0	1	1	1	1	1.000000	35	49	1	80	1	5.542212e-01	2	2	1	80	4
LRP1B	53353	broad.mit.edu	37	2	142237984	142237984	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:142237984G>C	ENST00000389484.3	-	3	1295	c.324C>G	c.(322-324)gaC>gaG	p.D108E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	11	16	0	38	108	LDL-receptor class A 2.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		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)		GTACTCCTTCGTCATACCCAT	0.408000										TSP Lung(27;0.18)			1	1	1	1	1	1	0.999379	11	17	0	39	0	0	0	0	0	39	5
ACVR1	90	broad.mit.edu	37	2	158594952	158594952	+	Splice_Site	SNP	C	C	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:158594952C>T	ENST00000263640.3	-	10	1824	c.1395_splice	c.e10+1	p.P465_splice	ACVR1_ENST00000410057.2_Splice_Site_p.P465_splice|ACVR1_ENST00000409283.2_Splice_Site_p.P465_splice|ACVR1_ENST00000434821.1_Splice_Site_p.P465_splice	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	21	80	0	119	465	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GCATTCTTACCGGGTCTGAGA	0.433000													1	1	1	1	1	1	1.000000	24	84	0	140	1	9.999958e-01	18	61	0	140	5
CERS6	253782	broad.mit.edu	37	2	169404167	169404167	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:169404167C>T	ENST00000305747.6	+	2	819	c.232C>T	c.(232-234)Ccg>Tcg	p.P78S	CERS6_ENST00000392687.4_Missense_Mutation_p.P78S	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	14	21	0	60	78						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										ACAAATTGCTCCGCCCAATGC	0.443000													1	1	1	1	1	1	0.999986	16	25	0	77	1	9.970542e-01	8	12	0	77	5
DOCK10	55619	broad.mit.edu	37	2	225639777	225639777	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr2:225639777G>A	ENST00000409592.3	-	52	5953	c.5840C>T	c.(5839-5841)aCg>aTg	p.T1947M	DOCK10_ENST00000258390.7_Missense_Mutation_p.T1953M			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	15	23	0	45	1953	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		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)		AAAGAACGGCGTCACATAGGT	0.493000													1	1	1	1	1	1	0.999993	17	27	0	56	0	9.026337e-01	1	8	0	56	5
LZTFL1	54585	broad.mit.edu	37	3	45877083	45877083	+	Splice_Site	SNP	G	G	A	rs17856737		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr3:45877083G>A	ENST00000296135.6	-	3	496	c.323_splice	c.e3+1	p.R108_splice	LZTFL1_ENST00000539217.1_Splice_Site_p.R104_splice|LZTFL1_ENST00000536047.1_Splice_Site_p.R91_splice|LZTFL1_ENST00000490463.1_5'UTR	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	24	36	0	56	108				R -> Q (in Ref. 4; AAH25988).						endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTTTATTACCGGTTTTCAAGT	0.398000													1	1	1	1	1	1	1.000000	28	39	0	59	1	9.998838e-01	2	24	0	59	5
LEPREL1	55214	broad.mit.edu	37	3	189681862	189681862	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr3:189681862C>A	ENST00000319332.5	-	14	2116	c.1919G>T	c.(1918-1920)cGc>cTc	p.R640L	LEPREL1_ENST00000427335.2_Missense_Mutation_p.R459L	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	32	46	0	81	640	Fe2OG dioxygenase.				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			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	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)	GCTGATCATGCGCCCACATTT	0.463000													1	1	1	1	1	1	1.000000	34	51	0	87	1	1	15	37	0	87	5
PDGFRB	5159	broad.mit.edu	37	5	149498363	149498363	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr5:149498363A>T	ENST00000261799.4	-	21	3320	c.2851T>A	c.(2851-2853)Ttc>Atc	p.F951I		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	26	96	0	170	951	Protein kinase.				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			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		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)	AGCTGGGAGAAGGGGGGCCGA	0.577000			T	ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP	MPD, AML, CMML, CML								1	1	1	1	1	1	1.000000	26	107	0	193	1	1	44	145	0	193	5
DNAH8	1769	broad.mit.edu	37	6	38942307	38942307	+	Splice_Site	SNP	T	T	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr6:38942307T>C	ENST00000359357.3	+	83	12437		c.e83+2		DNAH8_ENST00000441566.1_Splice_Site					dynein, axonemal, heavy chain 8	4	58	0	44											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTGTGCAGGTAACTGCAGAA	0.483000													0	1	1	0	0	1	0.892454	4	63	0	47	0	0	0	0	0	47	2
CARD11	84433	broad.mit.edu	37	7	2987238	2987238	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:2987238G>A	ENST00000396946.4	-	3	594	c.191C>T	c.(190-192)cCt>cTt	p.P64L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	36	58	0	79	64	CARD.				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			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGGCAGCATAGGGGCATTAAG	0.537000			Mis		DLBCL								1	1	1	1	1	1	1.000000	37	61	0	89	0	3.251136e-01	1	2	0	89	5
BZW2	28969	broad.mit.edu	37	7	16714153	16714153	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:16714153T>A	ENST00000433922.2	+	3	353	c.175T>A	c.(175-177)Tta>Ata	p.L59I	BZW2_ENST00000405202.1_5'UTR|BZW2_ENST00000258761.3_Missense_Mutation_p.L59I|BZW2_ENST00000452975.2_Missense_Mutation_p.L59I	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	9	26	0	81	59					cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		AGGCTCAAGATTAGATTATCG	0.448000													1	0	0	0	0	1	0.999808	13	29	0	94	1	9.999554e-01	5	46	0	94	1
EPDR1	54749	broad.mit.edu	37	7	37989841	37989841	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:37989841A>G	ENST00000199448.4	+	3	897	c.518A>G	c.(517-519)tAt>tGt	p.Y173C	EPDR1_ENST00000559325.1_Missense_Mutation_p.Y293C|EPDR1_ENST00000425345.1_Missense_Mutation_p.Y112C|EPDR1_ENST00000476620.1_Missense_Mutation_p.Y71C|EPDR1_ENST00000423717.1_3'UTR	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	11	13	0	27	173					cell-matrix adhesion	extracellular region	calcium ion binding	p.Y293C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AAGGATTGCTATCCTGTCCAG	0.383000													1	1	1	1	1	1	0.999775	12	14	0	30	1	9.956495e-01	4	12	0	30	5
CLCN1	1180	broad.mit.edu	37	7	143049003	143049003	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr7:143049003A>T	ENST00000343257.2	+	23	2999	c.2912A>T	c.(2911-2913)cAg>cTg	p.Q971L		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	48	10	1	124	971					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GACATCTTGCAGGGCCCCAGC	0.637000													1	1	1	1	1	1	1.000000	52	13	1	138	0	0	0	0	1	138	5
DOCK8	81704	broad.mit.edu	37	9	368135	368135	+	Splice_Site	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr9:368135G>A	ENST00000432829.2	+	15	1909	c.1593_splice	c.e15+1	p.P531_splice	DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000382329.1_Silent_p.P11P|DOCK8_ENST00000469391.1_Splice_Site_p.P531_splice|DOCK8_ENST00000453981.1_Splice_Site_p.P599_splice	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	5	87	0	94	599	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		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)		ATGCGATGCCGGTAAGGAGGG	0.478000													1	1	1	1	0	1	0.981812	7	98	0	112	0	3.298179e-02	0	4	0	112	4
PFKP	5214	broad.mit.edu	37	10	3162118	3162118	+	Missense_Mutation	SNP	G	G	C	rs140443512		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr10:3162118G>C	ENST00000381075.2	+	18	1765	c.1541G>C	c.(1540-1542)cGg>cCg	p.R514P	PFKP_ENST00000381125.4_Missense_Mutation_p.R522P	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	27	77	0	86	522					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		TCAGCCGCCCGGGAGAAGCAC	0.632000											OREG0019976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	30	86	0	93	1	9.998921e-01	10	36	0	93	5
NLRP10	338322	broad.mit.edu	37	11	7984813	7984813	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:7984813C>T	ENST00000328600.2	-	1	391	c.230G>A	c.(229-231)gGc>gAc	p.G77D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	35	4	0	85	77	DAPIN.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCTTCAAGCCCTTGAGGAC	0.542000													1	1	1	1	1	1	1.000000	38	5	0	92	0	0	0	0	0	92	5
INSC	387755	broad.mit.edu	37	11	15260618	15260618	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:15260618G>C	ENST00000379554.3	+	11	1578	c.1532G>C	c.(1531-1533)aGc>aCc	p.S511T	INSC_ENST00000424273.1_Missense_Mutation_p.S422T|INSC_ENST00000379556.3_Missense_Mutation_p.S464T|INSC_ENST00000528567.1_Missense_Mutation_p.S464T|INSC_ENST00000525218.1_Missense_Mutation_p.S422T|INSC_ENST00000530161.1_Missense_Mutation_p.S464T|INSC_ENST00000447214.2_3'UTR	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	16	19	0	48	511					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GTGCGGCTCAGCTGTGAGTGG	0.617000													1	1	1	1	1	1	0.999996	17	20	0	57	0	0	0	0	0	57	5
AHNAK	79026	broad.mit.edu	37	11	62291941	62291941	+	Silent	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr11:62291941G>C	ENST00000378024.4	-	5	10222	c.9948C>G	c.(9946-9948)ccC>ccG	p.P3316P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	26	22	0	38	3316					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCCAACTTGGGCCCAGAGA	0.443000													1	1	1	1	1	1	1.000000	26	22	0	38	1	1	32	19	0	38	5
APOBEC1	339	broad.mit.edu	37	12	7805124	7805124	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:7805124G>A	ENST00000229304.4	-	3	372	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	31	30	0	71	118					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			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAAAAAAGCCGAGCTACGTAG	0.483000													1	1	1	1	1	1	1.000000	34	35	0	73	0	0	0	0	0	73	5
TUBA1A	7846	broad.mit.edu	37	12	49580295	49580295	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:49580295C>T	ENST00000546918.1	-	2	411	c.325G>A	c.(325-327)Gct>Act	p.A109T	TUBA1A_ENST00000295766.5_Intron|TUBA1A_ENST00000550767.1_Intron|TUBA1A_ENST00000301071.7_Intron			Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	41	40	0	77	0					'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			stomach(1)|upper_aerodigestive_tract(1)	2						ggacgaggagcggggagggag	0.627000													1	0	0	1	0	1	1.000000	41	40	0	78	1	9.297844e-01	3	4	0	78	2
ANKRD52	283373	broad.mit.edu	37	12	56638535	56638535	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:56638535G>A	ENST00000267116.7	-	24	2744	c.2623C>T	c.(2623-2625)Cgg>Tgg	p.R875W		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	37	104	0	93	875							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGCAGCATCCGGAGCCCAGAG	0.607000													1	1	1	1	1	1	1.000000	40	114	0	101	1	9.624209e-01	3	15	0	101	5
PTPRB	0	broad.mit.edu	37	12	70963618	70963618	+	Silent	SNP	C	C	A	rs61757802		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:70963618C>A	ENST00000334414.6	-	14	3515	c.3471G>T	c.(3469-3471)acG>acT	p.T1157T	PTPRB_ENST00000451516.2_Silent_p.T849T|PTPRB_ENST00000550857.1_Silent_p.T849T|PTPRB_ENST00000551525.1_Silent_p.T1156T|PTPRB_ENST00000538708.1_Silent_p.T939T|PTPRB_ENST00000550358.1_Silent_p.T1069T|PTPRB_ENST00000261266.5_Silent_p.T939T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	19	33	0	55	939	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	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)			ATGCCGACACCGTGTAGGAAT	0.517000													1	1	1	1	1	1	1.000000	22	36	0	59	0	1.508197e-01	0	2	0	59	5
TDRD9	122402	broad.mit.edu	37	14	104491922	104491922	+	Missense_Mutation	SNP	T	T	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr14:104491922T>G	ENST00000409874.4	+	26	2788	c.2740T>G	c.(2740-2742)Tgg>Ggg	p.W914G	TDRD9_ENST00000339063.5_Missense_Mutation_p.W914G	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	19	44	0	52	914					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			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GGGACACTTTTGGGGATACAG	0.443000													1	1	1	1	1	1	0.999997	19	45	0	54	0	0	0	0	0	54	5
SCNN1B	0	broad.mit.edu	37	16	23366760	23366760	+	Silent	SNP	C	C	G	rs148125384		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr16:23366760C>G	ENST00000343070.2	+	4	902	c.726C>G	c.(724-726)ggC>ggG	p.G242G	SCNN1B_ENST00000568085.1_Silent_p.G242G|SCNN1B_ENST00000568923.1_Silent_p.G215G|SCNN1B_ENST00000307331.5_Silent_p.G287G	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	37	3	0	87	242					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GCTACCCCGGCGAGCAGATGA	0.617000													1	0	1	1	0	1	1.000000	41	3	0	102	0	0	1	0	0	102	3
CNOT1	23019	broad.mit.edu	37	16	58565875	58565875	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr16:58565875G>C	ENST00000317147.5	-	42	6496	c.6164C>G	c.(6163-6165)aCg>aGg	p.T2055R	CNOT1_ENST00000569240.1_Missense_Mutation_p.T2050R|CNOT1_ENST00000245138.4_Missense_Mutation_p.T906R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	34	4	0	60	2055					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGCTGTGGCGTATGTGCCAG	0.423000													1	1	1	1	1	1	1.000000	37	5	0	67	1	1	33	6	0	67	5
LRRC36	55282	broad.mit.edu	37	16	67404868	67404868	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr16:67404868T>A	ENST00000329956.6	+	9	1236	c.1217T>A	c.(1216-1218)tTc>tAc	p.F406Y	LRRC36_ENST00000541146.1_5'UTR|LRRC36_ENST00000563189.1_Missense_Mutation_p.F285Y|LRRC36_ENST00000290940.7_Missense_Mutation_p.F138Y|LRRC36_ENST00000435835.3_Missense_Mutation_p.F285Y	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	148	7	0	100	406										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		ACAACCCATTTCAACAGTGAC	0.473000													1	1	1	1	1	1	1.000000	168	7	0	113	0	0	1	0	0	113	5
SLC16A13	201232	broad.mit.edu	37	17	6941536	6941536	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:6941536C>G	ENST00000308027.6	+	3	717	c.409C>G	c.(409-411)Cga>Gga	p.R137G		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	44	7	0	80	137						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CTCTCGCCGACGATCCCTGGC	0.597000													1	1	1	1	1	1	1.000000	47	7	0	86	1	9.401089e-01	2	1	0	86	5
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656		TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:7577547C>T	ENST00000420246.2	-	7	866	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	31	4	0	75	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(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.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.582000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	34	5	0	86	1	1	59	4	0	86	5
DHX8	1659	broad.mit.edu	37	17	41582141	41582141	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:41582141T>A	ENST00000262415.3	+	12	1748	c.1676T>A	c.(1675-1677)cTt>cAt	p.L559H	DHX8_ENST00000540306.1_Missense_Mutation_p.L559H	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	163	71	0	137	559						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATGTCAATCCTTGAGCAGAGG	0.473000													1	1	1	1	1	1	1.000000	171	77	0	151	1	1	29	24	0	151	5
SPOP	8405	broad.mit.edu	37	17	47696599	47696599	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:47696599T>C	ENST00000393331.3	-	6	819	c.349A>G	c.(349-351)Atg>Gtg	p.M117V	SPOP_ENST00000347630.2_Missense_Mutation_p.M117V|SPOP_ENST00000503676.1_Missense_Mutation_p.M117V|SPOP_ENST00000504102.1_Missense_Mutation_p.M117V|SPOP_ENST00000393328.2_Missense_Mutation_p.M117V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	26	41	0	47	117	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.M117V(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CATTTACCCATAGCTTTGGTT	0.413000										Prostate(2;0.17)			1	1	1	1	1	1	1.000000	27	45	0	50	1	1	33	41	0	50	5
ITGA3	3675	broad.mit.edu	37	17	48165680	48165680	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr17:48165680G>A	ENST00000320031.8	+	25	3467	c.3137G>A	c.(3136-3138)aGg>aAg	p.R1046K	ITGA3_ENST00000007722.7_Intron	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	7	7	0	18	1046					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GAGACAGAGAGGCTGACCGAC	0.697000													1	1	1	1	1	1	0.995259	8	9	0	21	1	9.998927e-01	15	19	0	21	5
DTNA	1837	broad.mit.edu	37	18	32428344	32428344	+	Silent	SNP	G	G	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr18:32428344G>C	ENST00000283365.9	+	13	1530	c.1179G>C	c.(1177-1179)tcG>tcC	p.S393S	DTNA_ENST00000399097.3_Silent_p.S98S|DTNA_ENST00000598142.1_Silent_p.S393S|DTNA_ENST00000595022.1_Silent_p.S390S|DTNA_ENST00000597674.1_Silent_p.S72S|DTNA_ENST00000556414.3_Silent_p.S102S|DTNA_ENST00000348997.5_Silent_p.S447S|DTNA_ENST00000598774.1_Silent_p.S393S|DTNA_ENST00000399121.5_Silent_p.S390S|DTNA_ENST00000599844.1_Silent_p.S72S|DTNA_ENST00000269191.6_Silent_p.S450S|DTNA_ENST00000269192.7_Silent_p.S159S|DTNA_ENST00000591182.1_Silent_p.S98S|DTNA_ENST00000399113.3_Silent_p.S450S|DTNA_ENST00000269190.7_Silent_p.S451S|DTNA_ENST00000601125.1_Silent_p.S72S|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000444659.1_Silent_p.S450S|DTNA_ENST00000597599.1_Silent_p.S390S|DTNA_ENST00000598334.1_Silent_p.S390S	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	16	13	0	36	450					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						AGTCCTCTTCGTCTGTAAGTA	0.428000													1	1	1	1	1	1	0.999995	16	13	0	39	0	7.434018e-01	1	3	0	39	5
PDCD5	9141	broad.mit.edu	37	19	33077794	33077794	+	Nonsense_Mutation	SNP	A	A	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr19:33077794A>T	ENST00000590247.1	+	5	483	c.289A>T	c.(289-291)Aaa>Taa	p.K97*	PDCD5_ENST00000592786.1_Nonstop_Mutation_p.*66L|PDCD5_ENST00000586035.1_Nonsense_Mutation_p.K59*|PDCD5_ENST00000379316.3_Intron	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	25	53	0	51	97					apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					AGAAATCCTTAAAAAAGTAAG	0.323000													1	1	1	1	1	1	1.000000	27	58	0	61	1	1	57	473	0	61	5
SULT2A1	6822	broad.mit.edu	37	19	48382317	48382317	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr19:48382317T>A	ENST00000222002.3	-	4	682	c.543A>T	c.(541-543)ttA>ttT	p.L181F		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	20	186	0	137	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		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)		CATAACTCAGTAACAGGAAGT	0.463000													1	1	1	1	0	1	0.999998	21	207	0	157	0	0	0	0	0	157	4
HSPBP1	23640	broad.mit.edu	37	19	55789014	55789014	+	Silent	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr19:55789014G>A	ENST00000255631.5	-	4	721	c.411C>T	c.(409-411)gcC>gcT	p.A137A	HSPBP1_ENST00000587922.1_Silent_p.A137A|HSPBP1_ENST00000376343.3_Silent_p.A137A|HSPBP1_ENST00000433386.2_Silent_p.A137A	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	7	16	0	13	140					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGGTACCTGCGGCATTGTCCA	0.672000													1	1	1	1	1	1	0.996615	9	21	0	16	1	1	55	132	0	16	5
CTCFL	140690	broad.mit.edu	37	20	56093864	56093864	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr20:56093864T>C	ENST00000426658.2	-	4	1670	c.1009A>G	c.(1009-1011)Act>Gct	p.T337A	CTCFL_ENST00000422869.2_Missense_Mutation_p.T337A|CTCFL_ENST00000422109.2_Missense_Mutation_p.T337A|CTCFL_ENST00000433949.2_Missense_Mutation_p.T337A|CTCFL_ENST00000539382.1_Missense_Mutation_p.T132A|CTCFL_ENST00000502686.2_Missense_Mutation_p.T75A|CTCFL_ENST00000243914.3_Missense_Mutation_p.T337A|CTCFL_ENST00000371196.2_Missense_Mutation_p.T337A|CTCFL_ENST00000432255.2_Missense_Mutation_p.T337A|CTCFL_ENST00000429804.2_Missense_Mutation_p.T337A|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000423479.2_Missense_Mutation_p.T337A			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	65	53	0	119	337					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			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	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)			TTCTCATGAGTATGTTTATAG	0.458000													1	1	1	1	1	1	1.000000	67	56	0	129	0	0	1	0	0	129	5
COL20A1	57642	broad.mit.edu	37	20	61959791	61959791	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr20:61959791G>A	ENST00000422202.1	+	33	3829	c.3761G>A	c.(3760-3762)cGc>cAc	p.R1254H	COL20A1_ENST00000326996.6_Missense_Mutation_p.R1273H|COL20A1_ENST00000435874.1_Missense_Mutation_p.R1254H|COL20A1_ENST00000358894.6_Missense_Mutation_p.R1241H			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	13	21	0	35	1241					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCTGGCACCCGCAGCAAGGCC	0.662000													1	1	1	1	1	1	0.999849	13	22	0	36	0	0	0	0	0	36	5
KRTAP10-7	386675	broad.mit.edu	37	21	46021513	46021513	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr21:46021513C>A	ENST00000380102.2	+	1	1017	c.992C>A	c.(991-993)cCc>cAc	p.P331H	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	11	154	0	148	331	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GTGCCCGTCCCCTCCTGCTGC	0.721000													1	1	1	1	0	1	0.999218	12	167	0	157	0	0	0	0	0	157	4
P2RX6	9127	broad.mit.edu	37	22	21377577	21377577	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr22:21377577G>T	ENST00000413302.2	+	7	800	c.652G>T	c.(652-654)Gag>Tag	p.E218*	P2RX6_ENST00000443995.3_Nonsense_Mutation_p.E165*|P2RX6_ENST00000401443.1_Nonsense_Mutation_p.E192*|P2RX6_ENST00000336296.2_Nonsense_Mutation_p.E208*|P2RX6_ENST00000402329.3_3'UTR			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	90	10	0	178	218					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										CAATGCCTTGGAGACCTGGGA	0.562000													1	1	1	1	1	1	1.000000	97	11	0	204	0	0	0	0	0	204	5
ACE2	59272	broad.mit.edu	37	X	15609873	15609873	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrX:15609873C>A	ENST00000427411.1	-	5	762	c.546G>T	c.(544-546)gaG>gaT	p.E182D	ACE2_ENST00000252519.3_Missense_Mutation_p.E182D	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	184	221	0	352	182					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			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AGACCACATACTCTTCATATA	0.463000													1	1	1	1	1	1	1.000000	192	234	0	370	0	0	0	0	0	370	5
IRS4	8471	broad.mit.edu	37	X	107976057	107976057	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrX:107976057T>A	ENST00000372129.2	-	1	3594	c.3518A>T	c.(3517-3519)gAa>gTa	p.E1173V		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	106	134	1	214	1173	Ala-rich.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCTTACTGCTTCGGCATCAGC	0.637000													1	1	1	1	1	1	1.000000	114	150	1	229	0	3.994873e-01	0	3	1	229	5
MBNL3	55796	broad.mit.edu	37	X	131573526	131573526	+	Silent	SNP	G	G	T			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chrX:131573526G>T	ENST00000370857.3	-	1	179	c.114C>A	c.(112-114)gcC>gcA	p.A38A	MBNL3_ENST00000370853.3_Silent_p.A38A|MBNL3_ENST00000370839.3_Silent_p.A38A|MBNL3_ENST00000370844.1_5'UTR			Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	42	172	0	178	38					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TTGGTGGATGGGCAAACTTGC	0.433000													1	1	1	1	1	1	1.000000	42	182	0	196	0	0	0	1	0	196	5
IER3	8870	broad.mit.edu	37	6	30711931	30711931	+	Frame_Shift_Del	DEL	T	T	-			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr6:30711931delT	ENST00000376377.2	-	1	394	c.365delA	c.(364-366)agfs	p.K122fs	IER3_ENST00000259874.5_Frame_Shift_Del_p.R85fs			P46695	IEX1_HUMAN	immediate early response 3	93	106	0	171	0					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						AAGAGAAGCCTTTTGGCTGGG	0.627000													1	1	1	1	0	1	1.000000	93	203	0	172	1	1	19	55	0	172	4
ITGA7	3679	broad.mit.edu	37	12	56078974	56078976	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-NA-A5I1-01A-21D-A28R-08	TCGA-NA-A5I1-10A-01D-A28U-08			CTC	-	CTC	CTC		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	6b5f737c-f956-4cac-8f07-b58b22dca4dc	c63a2da8-53fa-4e7e-bb63-eaf1db77c9cb	g.chr12:56078974_56078976delCTC	ENST00000257879.6	-	25	3495_3497	c.3280_3282delGAG	c.(3280-3282)del	p.E1094del	ITGA7_ENST00000553804.1_In_Frame_Del_p.E1098del|ITGA7_ENST00000347027.6_In_Frame_Del_p.E1088del|ITGA7_ENST00000452168.2_In_Frame_Del_p.E1001del|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000555728.1_In_Frame_Del_p.E1138del|ITGA7_ENST00000257880.7_3'UTR	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN	integrin, alpha 7	33	40	0	75	1138					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGCCCGTCTTCTCCTCCTTGAAC	0.645000													1	1	1	1	0	1	1.000000	33	75	0	82	1	9.974109e-01	2	23	0	82	4
SAMD11	148398	broad.mit.edu	37	1	878746	878746	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:878746G>A	ENST00000342066.3	+	12	1761	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	8	32	0	34	560	SAM.					nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	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	0.657000													1	1	0	1	1	1	0.991760	8	35	0	41	1	9.764119e-01	5	28	0	41	4
ARID1A	8289	broad.mit.edu	37	1	27106465	27106465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:27106465C>T	ENST00000324856.7	+	20	6447	c.6076C>T	c.(6076-6078)Cag>Tag	p.Q2026*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1809*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q354*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1643*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	47	48	0	86	2026					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.Q2026*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		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)		AGAACGGAAGCAGGCACCACT	0.542000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC								1	1	1	1	1	1	1.000000	48	51	0	91	1	9.999571e-01	12	10	0	91	5
LRRC7	57554	broad.mit.edu	37	1	70291497	70291497	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:70291497A>T	ENST00000310961.5	+	6	807	c.389A>T	c.(388-390)aAt>aTt	p.N130I	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.N163I|LRRC7_ENST00000035383.5_Missense_Mutation_p.N125I			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	4	12	0	15	125						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCCAGTGTCAATCCCATTTCT	0.269000													1	0	1	1	1	1	0.947080	5	14	0	18	0	0	0	0	0	18	4
RAP1A	5906	broad.mit.edu	37	1	112234017	112234017	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:112234017G>A	ENST00000369709.3	+	2	214	c.35G>A	c.(34-36)gGa>gAa	p.G12E	RAP1A_ENST00000545460.1_Missense_Mutation_p.G12E|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000436150.2_Missense_Mutation_p.G12E|RAP1A_ENST00000356415.1_Missense_Mutation_p.G12E	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	16	13	0	43	12					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			endometrium(1)|large_intestine(2)|lung(3)	6		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)		CTTGGTTCAGGAGGCGTTGGG	0.368000													1	1	1	1	1	1	1.000000	19	15	0	54	1	9.999770e-01	11	11	0	54	5
HMGCS2	3158	broad.mit.edu	37	1	120302610	120302610	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:120302610G>A	ENST00000369406.3	-	3	611	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	4	24	0	24	188					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		ATGGCATAACGACCTGTAAAG	0.488000													1	0	1	1	1	1	0.942955	5	27	0	25	0	0	0	0	0	25	4
ECM1	1893	broad.mit.edu	37	1	150485731	150485731	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:150485731G>A	ENST00000369047.4	+	10	1536	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	ECM1_ENST00000346569.6_Missense_Mutation_p.D346N|ECM1_ENST00000369049.4_Missense_Mutation_p.D498N|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	13	74	0	77	471					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			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	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)			CTTCATCAATGATCTGTGTGG	0.478000													1	1	1	1	0	1	0.999838	14	76	0	84	1	9.991696e-01	7	63	0	84	4
TCHH	7062	broad.mit.edu	37	1	152080396	152080396	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:152080396C>T	ENST00000368804.1	-	2	5296	c.5297G>A	c.(5296-5298)cGc>cAc	p.R1766H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	19	82	0	104	1766	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGCTCCTGGCGGCGCAGCTG	0.587000													1	1	1	1	1	1	0.999995	19	88	0	114	0	0	0	0	0	114	5
B4GALT3	8703	broad.mit.edu	37	1	161143778	161143778	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:161143778C>T	ENST00000319769.5	-	5	773	c.551G>A	c.(550-552)cGt>cAt	p.R184H	PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000367998.1_Missense_Mutation_p.R184H|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	40	37	0	71	184					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CTCTTCATCACGCAGGGCCTC	0.527000													1	1	1	1	1	1	1.000000	40	39	0	75	1	1	42	26	0	75	5
ADCY10	55811	broad.mit.edu	37	1	167791375	167791375	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:167791375A>C	ENST00000367848.1	-	30	4394	c.3897T>G	c.(3895-3897)ttT>ttG	p.F1299L	ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Missense_Mutation_p.F1391L|ADCY10_ENST00000545172.1_Missense_Mutation_p.F1238L			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	7	39	0	29	1391					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTCTATAAACAAAACCTAAGA	0.413000													1	1	0	1	0	1	0.983479	7	40	0	32	0	0	0	0	0	32	3
CACNA1E	777	broad.mit.edu	37	1	181702803	181702803	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:181702803C>T	ENST00000526775.1	+	20	3287	c.3122C>T	c.(3121-3123)aCg>aTg	p.T1041M	CACNA1E_ENST00000367567.4_Missense_Mutation_p.T667M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1011M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.T1060M|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1060M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1041M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T992M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	5	15	0	29	1060					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACGGCCAACACGGACAAGGCC	0.642000													1	1	1	1	1	1	0.944924	5	19	0	34	0	0	0	0	0	34	5
DSTYK	25778	broad.mit.edu	37	1	205126443	205126443	+	Silent	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:205126443G>A	ENST00000367162.3	-	10	2340	c.2310C>T	c.(2308-2310)agC>agT	p.S770S	DSTYK_ENST00000367161.3_Silent_p.S770S|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	22	34	0	58	770	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CAAGTCCCTGGCTGTGCAGGA	0.488000													1	1	1	1	1	1	1.000000	23	39	0	62	0	0	1	0	0	62	5
DYRK3	8444	broad.mit.edu	37	1	206821770	206821770	+	Silent	SNP	C	C	T	rs146045931		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:206821770C>T	ENST00000367106.1	+	4	1640	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	DYRK3_ENST00000367108.3_Silent_p.F389F|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Silent_p.F409F			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	46	121	0	171	409	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AGCCTCTCTTCCCTGGAGAGG	0.488000													1	1	1	1	1	1	1.000000	53	128	0	188	1	9.248583e-01	3	10	0	188	5
ITPKB	3707	broad.mit.edu	37	1	226923851	226923851	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:226923851A>T	ENST00000429204.1	-	2	1636	c.1309T>A	c.(1309-1311)Tgg>Agg	p.W437R	ITPKB_ENST00000272117.3_Missense_Mutation_p.W437R|ITPKB_ENST00000366784.1_Missense_Mutation_p.W437R	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	5	46	0	54	437							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GAGAGCTGCCAACGCCCCCCG	0.706000													1	1	1	1	1	1	0.968011	6	47	0	54	0	4.880383e-02	0	3	0	54	5
OBSCN	84033	broad.mit.edu	37	1	228481947	228481947	+	Silent	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:228481947G>A	ENST00000570156.2	+	47	12587	c.12513G>A	c.(12511-12513)ccG>ccA	p.P4171P	OBSCN_ENST00000366709.4_Silent_p.P861P|OBSCN_ENST00000359599.6_Silent_p.P2589P|OBSCN_ENST00000284548.11_Silent_p.P3742P|OBSCN_ENST00000422127.1_Silent_p.P3742P|OBSCN_ENST00000366707.4_Silent_p.P861P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	38	152	0	175	3214	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			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCGGCACCGGTGGAGTGGA	0.627000													1	0	1	1	1	1	1.000000	38	167	0	188	0	0	0	0	0	188	4
CCSAP	126731	broad.mit.edu	37	1	229461116	229461116	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr1:229461116C>T	ENST00000284617.2	-	4	803	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	CCSAP_ENST00000366687.1_Missense_Mutation_p.E227K|CCSAP_ENST00000366686.1_Missense_Mutation_p.E113K|CCSAP_ENST00000483092.1_5'UTR	NM_145257.3	NP_660300.3			centriole, cilia and spindle-associated protein	16	33	0	66																		TTCCTTTTTTCCACCTGTCTT	0.423000													1	1	1	1	1	1	0.999996	18	35	0	70	0	0	0	0	0	70	5
APOB	338	broad.mit.edu	37	2	21229150	21229150	+	Silent	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr2:21229150C>A	ENST00000233242.1	-	26	10717	c.10590G>T	c.(10588-10590)gtG>gtT	p.V3530V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	67	68	0	92	3530					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			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCTGCAGCTTCACTGAAGACC	0.443000													1	1	1	1	1	1	1.000000	75	71	0	101	0	0	0	0	0	101	5
NRXN1	9378	broad.mit.edu	37	2	51254756	51254756	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr2:51254756G>A	ENST00000404971.1	-	2	1995	c.656C>T	c.(655-657)gCg>gTg	p.A219V	NRXN1_ENST00000406316.2_Missense_Mutation_p.A219V|NRXN1_ENST00000401669.2_Missense_Mutation_p.A219V|NRXN1_ENST00000405472.3_Missense_Mutation_p.A219V|NRXN1_ENST00000402717.3_Missense_Mutation_p.A219V|NRXN1_ENST00000406859.3_Missense_Mutation_p.A219V|NRXN1_ENST00000405581.1_Missense_Mutation_p.A219V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	5	15	0	16	219	EGF-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCCTCGCCCGCCTCGCACGG	0.716000													1	0	1	1	0	1	0.971721	6	19	0	16	0	0	0	0	0	16	3
SLC39A10	57181	broad.mit.edu	37	2	196573523	196573523	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr2:196573523C>T	ENST00000409086.3	+	5	1805	c.1530C>T	c.(1528-1530)atC>atT	p.I510I	SLC39A10_ENST00000541054.1_Silent_p.I60I|SLC39A10_ENST00000359634.5_Silent_p.I510I	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	17	41	0	41	510					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGCTATTTATCATTGAACACT	0.284000													1	1	1	1	1	1	0.999994	18	45	0	46	0	0	0	1	0	46	5
ZKSCAN7	55888	broad.mit.edu	37	3	44612304	44612304	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:44612304C>T	ENST00000273320.3	+	6	2131	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Nonsense_Mutation_p.R568*|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7	47	44	0	93									p.R568*(1)									ATGTCTTATTCGACATCAGAG	0.433000													1	1	1	1	1	1	1.000000	47	44	0	96	0	0	0	1	0	96	5
USP19	10869	broad.mit.edu	37	3	49154288	49154288	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:49154288C>G	ENST00000453664.1	-	7	1286	c.968G>C	c.(967-969)gGa>gCa	p.G323A	USP19_ENST00000434032.2_Missense_Mutation_p.G333A|USP19_ENST00000417901.1_Missense_Mutation_p.G333A|USP19_ENST00000398888.2_Missense_Mutation_p.G232A|USP19_ENST00000398892.3_Missense_Mutation_p.G270A|USP19_ENST00000398896.1_Missense_Mutation_p.G38A|USP19_ENST00000398898.2_Missense_Mutation_p.G270A	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	6	42	0	51	232	CS 2.				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			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCTTTCTCTCCTGCCAAAGG	0.552000													1	1	1	1	1	1	0.968011	6	47	0	57	1	1.780458e-01	2	4	0	57	5
BSN	8927	broad.mit.edu	37	3	49662661	49662661	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:49662661C>G	ENST00000296452.4	+	2	592	c.478C>G	c.(478-480)Cag>Gag	p.Q160E		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	48	39	1	99	160					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCCGTCCCTCAGATCGCCCC	0.627000													1	0	1	1	1	1	1.000000	52	42	1	119	0	0	0	0	1	119	4
PIK3CA	5290	broad.mit.edu	37	3	178937422	178937422	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:178937422T>C	ENST00000263967.3	+	12	1967	c.1810T>C	c.(1810-1812)Tgt>Cgt	p.C604R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	7	16	0	22	604	PI3K helical.				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.C604R(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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)			ACTTCTGGACTGTAATTACCC	0.368000		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	0	1	1	1	1	0.993175	8	19	0	24	0	0	0	0	0	24	4
MFN1	55669	broad.mit.edu	37	3	179095162	179095162	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr3:179095162C>T	ENST00000471841.1	+	12	1381	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	MFN1_ENST00000263969.5_Nonsense_Mutation_p.R419*|MFN1_ENST00000280653.7_Nonsense_Mutation_p.R419*	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	8	49	0	31	419					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	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)			TGAAATTTGTCGACTGTCTGT	0.234000													1	1	1	1	1	1	0.990878	8	59	0	36	0	1.863354e-02	0	2	0	36	5
EPHA5	2044	broad.mit.edu	37	4	66361138	66361138	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr4:66361138C>T	ENST00000273854.3	-	4	1634	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	EPHA5_ENST00000511294.1_Missense_Mutation_p.R345K|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.R345K	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	30	83	0	120	345	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			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATCAGACTCTCTCCTGAAATA	0.473000										TSP Lung(17;0.13)			1	1	1	1	1	1	1.000000	33	95	0	139	0	0	0	0	0	139	5
CABS1	85438	broad.mit.edu	37	4	71201489	71201489	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr4:71201489A>C	ENST00000273936.4	+	1	792	c.733A>C	c.(733-735)Agt>Cgt	p.S245R		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	6	54	0	65	245						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AATTGACCTAAGTGTTTTAGA	0.408000													1	0	1	1	1	1	0.990979	8	55	0	71	0	0	0	0	0	71	4
YTHDC2	64848	broad.mit.edu	37	5	112876758	112876758	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:112876758T>C	ENST00000161863.4	+	9	1517	c.1304T>C	c.(1303-1305)gTg>gCg	p.V435A	YTHDC2_ENST00000515883.1_Missense_Mutation_p.V435A	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	7	59	0	73	435							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		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)		GTTCTAAATGTGACTGATGAG	0.403000													1	0	1	1	1	1	0.982377	7	67	0	79	0	0	0	1	0	79	4
PCDHB5	0	broad.mit.edu	37	5	140516678	140516678	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:140516678C>T	ENST00000231134.5	+	1	1879	c.1662C>T	c.(1660-1662)aaC>aaT	p.N554N		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		8	147	0	171	554	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGCCAACGACAACTCGC	0.716000													1	1	1	1	0	1	0.989941	8	152	0	175	0	0	0	0	0	175	4
PCDHGA2	0	broad.mit.edu	37	5	140719629	140719629	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:140719629C>T	ENST00000394576.2	+	1	1091	c.1091C>T	c.(1090-1092)aCc>aTc	p.T364I	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1				11	78	0	72											breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCAGGAACCATAATTGGG	0.438000													1	1	1	1	1	1	0.999325	12	84	0	78	0	0	0	0	0	78	5
CD74	972	broad.mit.edu	37	5	149782827	149782827	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:149782827G>A	ENST00000009530.7	-	7	675	c.674C>T	c.(673-675)cCg>cTg	p.P225L	CD74_ENST00000353334.6_Intron|CD74_ENST00000377795.3_Intron|CD74_ENST00000524315.1_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	22	180	0	191	225	Thyroglobulin type-1.				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATGAACCCGGGTGGACAGC	0.577000			T	ROS1	NSCLC								1	1	1	1	1	1	1.000000	23	199	0	213	0	1	1	572	0	213	5
GABRA6	2559	broad.mit.edu	37	5	161113261	161113261	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr5:161113261G>T	ENST00000523217.1	+	2	306	c.64G>T	c.(64-66)Gaa>Taa	p.E22*	GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000274545.5_Nonsense_Mutation_p.E22*	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	20	42	0	56	22					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	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)	AGGGAAACTCGAAGTTGAAGG	0.478000										TCGA Ovarian(5;0.080)			1	1	1	1	1	1	1.000000	21	42	0	58	0	0	0	0	0	58	5
GRM4	2914	broad.mit.edu	37	6	34003773	34003773	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:34003773C>T	ENST00000374181.3	-	8	2283	c.2114G>A	c.(2113-2115)aGc>aAc	p.S705N	GRM4_ENST00000374177.3_Missense_Mutation_p.S589N|GRM4_ENST00000535756.1_Missense_Mutation_p.S572N|GRM4_ENST00000545715.1_Missense_Mutation_p.S397N|GRM4_ENST00000455714.2_Missense_Mutation_p.S565N|GRM4_ENST00000538487.1_Missense_Mutation_p.S705N|GRM4_ENST00000544773.1_Missense_Mutation_p.S536N	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	21	120	0	136	705					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			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CGAGATGAGGCTGAAGGTGAT	0.637000													1	1	1	1	1	1	1.000000	23	130	0	143	0	1.741415e-01	1	4	0	143	5
PTCRA	171558	broad.mit.edu	37	6	42890923	42890923	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:42890923G>A	ENST00000304672.1	+	2	298	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	PTCRA_ENST00000446507.1_Intron|PTCRA_ENST00000441198.1_Missense_Mutation_p.A48T	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	16	134	0	152	73						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	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)			TGCACTGGATGCCTTCACCTA	0.602000													1	1	1	1	1	1	0.999993	19	154	0	173	0	0	0	1	0	173	5
DST	667	broad.mit.edu	37	6	56484250	56484250	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:56484250C>T	ENST00000370765.6	-	23	4689	c.4582G>A	c.(4582-4584)Gat>Aat	p.D1528N	DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	15	26	0	26	5205					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|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			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTAGATGATCTGATTTTCTC	0.313000													1	1	1	1	1	1	0.999983	16	29	0	28	0	0	0	0	0	28	5
MAP3K5	4217	broad.mit.edu	37	6	136879965	136879965	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:136879965C>T	ENST00000359015.4	-	29	4397	c.4037G>A	c.(4036-4038)cGt>cAt	p.R1346H	MAP3K5_ENST00000355845.4_Missense_Mutation_p.R593H	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	18	42	0	53	1346					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			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TAAGTCATCACGTGTAACATA	0.333000													1	1	1	1	1	1	0.999997	19	48	0	64	1	8.085587e-01	4	6	0	64	5
PLEKHG1	57480	broad.mit.edu	37	6	151130354	151130354	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:151130354C>A	ENST00000367328.1	+	9	1338	c.1026C>A	c.(1024-1026)ttC>ttA	p.F342L	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.F342L	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	8	99	0	111	342	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGACGCTCTTCCTCTTCGACA	0.562000													1	0	1	1	0	1	0.990175	8	111	0	125	0	0	0	0	0	125	3
SYNE1	23345	broad.mit.edu	37	6	152749391	152749391	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:152749391C>G	ENST00000367255.5	-	37	5526	c.4925G>C	c.(4924-4926)aGg>aCg	p.R1642T	SYNE1_ENST00000265368.4_Missense_Mutation_p.R1642T|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1712T|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1649T|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1649T|SYNE1_ENST00000367253.4_Missense_Mutation_p.R1642T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	40	196	0	265	1642					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			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCTTCGCCCTCCTTAGGAT	0.532000										HNSCC(10;0.0054)			1	1	1	1	1	1	1.000000	46	210	0	295	0	0	0	0	0	295	5
SYNE1	23345	broad.mit.edu	37	6	152831401	152831401	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:152831401G>A	ENST00000367255.5	-	8	1109	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	SYNE1_ENST00000265368.4_Missense_Mutation_p.R170W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R170W|SYNE1_ENST00000367248.3_Missense_Mutation_p.R177W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R177W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R177W|SYNE1_ENST00000367253.4_Missense_Mutation_p.R170W|SYNE1_ENST00000413186.2_Missense_Mutation_p.R170W|SYNE1_ENST00000466159.2_Missense_Mutation_p.R170W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	37	48	0	82	170	Actin-binding.				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.R170W(7)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCACCTTCCGTTTACTTGGT	0.483000										HNSCC(10;0.0054)			1	1	1	1	1	1	1.000000	42	53	0	94	0	0	0	0	0	94	5
C6orf70	0	broad.mit.edu	37	6	170181480	170181480	+	Silent	SNP	C	C	T	rs151319719	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr6:170181480C>T	ENST00000588451.1	+	17	2013	c.1500C>T	c.(1498-1500)taC>taT	p.Y500Y	C6orf70_ENST00000366773.3_Silent_p.Y636Y|C6orf70_ENST00000392095.4_Silent_p.Y510Y|C6orf70_ENST00000418781.3_Silent_p.Y563Y|C6orf70_ENST00000366772.2_Silent_p.Y589Y			Q5T6L9	CF070_HUMAN		8	19	0	32	636						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		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)		ACACCAGTTACGAAAAGAACA	0.323000													1	1	1	1	1	1	0.996615	9	21	0	36	1	9.991615e-01	5	34	0	36	5
FERD3L	222894	broad.mit.edu	37	7	19184880	19184880	+	Missense_Mutation	SNP	C	C	T	rs145435922		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:19184880C>T	ENST00000275461.3	-	1	164	c.106G>A	c.(106-108)Ggg>Agg	p.G36R	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	4	43	0	59	36			G -> R (in a colorectal cancer sample; somatic mutation).		negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G36R(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						AAGGAGACCCCGGGTGCGAAG	0.657000													0	1	1	0	0	1	0.892964	4	49	0	65	0	0	0	0	0	65	2
CREB5	9586	broad.mit.edu	37	7	28547289	28547289	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:28547289C>T	ENST00000357727.2	+	4	615	c.225C>T	c.(223-225)ttC>ttT	p.F75F	CREB5_ENST00000409603.1_Silent_p.F42F|CREB5_ENST00000396300.2_Silent_p.F68F|CREB5_ENST00000396299.2_Silent_p.F42F	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	78	104	0	140	75					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			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TGGGCCTCTTCAGCGAGCTGG	0.542000													1	1	1	1	1	1	1.000000	81	109	0	158	0	0	0	1	0	158	5
HGF	3082	broad.mit.edu	37	7	81388026	81388026	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:81388026C>G	ENST00000222390.5	-	3	575	c.349G>C	c.(349-351)Gac>Cac	p.D117H	HGF_ENST00000444829.2_Missense_Mutation_p.D117H|HGF_ENST00000453018.1_Missense_Mutation_p.D14H|HGF_ENST00000354224.6_Missense_Mutation_p.D117H|HGF_ENST00000423064.2_Missense_Mutation_p.D117H|HGF_ENST00000457544.2_Missense_Mutation_p.D117H|HGF_ENST00000453411.1_Missense_Mutation_p.D117H	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	16	13	0	30	117	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			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCATAGAGGTCAAATTCATGG	0.348000													1	1	1	1	1	1	1.000000	19	15	0	33	1	3.153153e-01	2	0	0	33	5
PCLO	27445	broad.mit.edu	37	7	82584377	82584377	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:82584377C>T	ENST00000423517.2	-	5	6229	c.5892G>A	c.(5890-5892)acG>acA	p.T1964T	PCLO_ENST00000333891.8_Silent_p.T1964T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	9	48	0	57	1895					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCCATTGTACGTGTCTTCTA	0.383000													1	1	1	1	1	1	0.997708	10	50	0	58	0	0	0	0	0	58	5
PCLO	27445	broad.mit.edu	37	7	82584412	82584412	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr7:82584412C>G	ENST00000423517.2	-	5	6194	c.5857G>C	c.(5857-5859)Gag>Cag	p.E1953Q	PCLO_ENST00000333891.8_Missense_Mutation_p.E1953Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5	47	0	41	1884					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATATAATCCTCTATTAGCATC	0.368000													1	0	1	1	0	1	0.940536	5	51	0	44	0	0	0	0	0	44	3
CHRNA2	0	broad.mit.edu	37	8	27321250	27321250	+	Missense_Mutation	SNP	G	G	A	rs140350483	byFrequency	TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:27321250G>A	ENST00000407991.1	-	6	1318	c.710C>T	c.(709-711)aCg>aTg	p.T237M	CHRNA2_ENST00000520933.2_Missense_Mutation_p.T237M|CHRNA2_ENST00000240132.2_Missense_Mutation_p.T222M	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	29	35	0	105	237						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		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 chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	GTAGGTGCCCGTGGCATTGAC	0.592000													1	1	1	1	1	1	1.000000	30	42	0	115	0	0	0	0	0	115	5
XKR4	114786	broad.mit.edu	37	8	56435862	56435862	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:56435862C>T	ENST00000327381.5	+	3	1129	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	35	10	0	21	343						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CAGCTTCCCTCGTGTCCCTGG	0.572000													1	1	1	1	1	1	1.000000	37	12	0	21	0	0	0	0	0	21	5
PABPC1	26986	broad.mit.edu	37	8	101727709	101727709	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:101727709C>A	ENST00000318607.5	-	4	1752	c.624G>T	c.(622-624)aaG>aaT	p.K208N	PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000519004.1_Missense_Mutation_p.K163N|PABPC1_ENST00000522387.1_Missense_Mutation_p.K176N	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	8	89	0	49	208	CSDE1-binding.|RRM 3.				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			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	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)			CAAAGAGATCCTTAAGGCGCT	0.353000													1	1	1	1	0	1	0.990268	8	100	0	59	1	9.999962e-01	27	398	0	59	4
LRRC24	441381	broad.mit.edu	37	8	145749618	145749618	+	Silent	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr8:145749618C>G	ENST00000529415.2	-	4	600	c.483G>C	c.(481-483)ctG>ctC	p.L161L	LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Silent_p.L158L|LRRC14_ENST00000528528.1_Intron			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	11	173	0	111	161						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	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)			CCTGGTCCTCCAGCAGCTCAA	0.617000													1	1	1	1	1	1	0.998482	11	183	0	122	1	6.954602e-01	19	22	0	122	5
FRMPD1	22844	broad.mit.edu	37	9	37745756	37745756	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr9:37745756G>T	ENST00000539465.1	+	16	4320	c.3727G>T	c.(3727-3729)Gac>Tac	p.D1243Y	FRMPD1_ENST00000377765.3_Missense_Mutation_p.D1243Y|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	44	60	0	86	1243						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGCCCCTAGGGACAGCCCTGA	0.512000													1	1	1	1	1	1	1.000000	44	64	0	93	1	9.521871e-01	4	5	0	93	5
SLC25A51	92014	broad.mit.edu	37	9	37888412	37888412	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr9:37888412C>T	ENST00000377716.2	-	3	879	c.136G>A	c.(136-138)Gca>Aca	p.A46T	SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000380590.3_Missense_Mutation_p.A46T|SLC25A51_ENST00000242275.6_Missense_Mutation_p.A46T|RP11-613M10.9_ENST00000540557.1_Intron			Q9H1U9	MCAR1_HUMAN	solute carrier family 25, member 51	12	86	0	77	46					transport	integral to membrane|mitochondrial inner membrane											AATGTGATTGCGACATTGTTG	0.408000													1	1	1	1	1	1	0.999314	12	89	0	83	0	1.729050e-01	0	6	0	83	5
SPATA31D1	389763	broad.mit.edu	37	9	84608177	84608177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr9:84608177C>A	ENST00000344803.2	+	4	2839	c.2792C>A	c.(2791-2793)tCg>tAg	p.S931*		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1	8	30	0	51																		ATCTTCAAATCGAAAGCGGAC	0.468000													1	1	1	1	1	1	0.996086	9	30	0	51	0	0	0	0	0	51	5
CTBP2	1488	broad.mit.edu	37	10	126716241	126716241	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr10:126716241C>T	ENST00000309035.6	-	1	218	c.88G>A	c.(88-90)Gag>Aag	p.E30K	CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	4	26	0	27	0					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	p.E30K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		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)		CGCAGGGACTCGGCGTTCTCC	0.587000													1	0	1	1	1	1	0.942955	5	27	0	34	0	3.550039e-01	0	7	0	34	4
OR5L1	219437	broad.mit.edu	37	11	55579557	55579557	+	Silent	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:55579557G>A	ENST00000333973.2	+	1	704	c.615G>A	c.(613-615)ttG>ttA	p.L205L		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	16	104	0	111	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGGCCACTTTGAATGAGAGTG	0.468000													1	1	1	1	1	1	0.999954	16	108	0	115	0	0	0	0	0	115	5
NRXN2	9379	broad.mit.edu	37	11	64374750	64374750	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:64374750G>A	ENST00000265459.6	-	23	5518	c.5057C>T	c.(5056-5058)gCg>gTg	p.A1686V	NRXN2_ENST00000409571.1_Missense_Mutation_p.A1679V|NRXN2_ENST00000301894.2_Missense_Mutation_p.A640V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A1616V|NRXN2_ENST00000377551.1_Missense_Mutation_p.A1686V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	9	29	0	29	1686					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTTCACCACCGCCCCATTGCT	0.582000													1	1	1	1	1	1	0.998101	10	30	0	30	1	9.997407e-01	19	37	0	30	5
GAL3ST3	89792	broad.mit.edu	37	11	65810819	65810819	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:65810819C>T	ENST00000312006.4	-	3	736	c.455G>A	c.(454-456)cGc>cAc	p.R152H	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R152H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	7	22	0	22	152					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			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGCCGGCTCGCGCAGGATGGT	0.697000													1	0	1	1	0	1	0.992692	8	23	0	22	0	1.902215e-01	1	2	0	22	3
LRP5	4041	broad.mit.edu	37	11	68170953	68170953	+	Silent	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:68170953G>A	ENST00000294304.7	+	8	1693	c.1587G>A	c.(1585-1587)gtG>gtA	p.V529V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	10	40	0	52	529	Beta-propeller 2.				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			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTGCAGGTGATCAATGTTG	0.592000													1	1	1	1	1	1	0.997798	10	44	0	56	1	2.589481e-01	2	3	0	56	5
FAT3	120114	broad.mit.edu	37	11	92523240	92523240	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:92523240G>C	ENST00000298047.6	+	7	4484	c.4467G>C	c.(4465-4467)gaG>gaC	p.E1489D	FAT3_ENST00000409404.2_Missense_Mutation_p.E1489D|FAT3_ENST00000525166.1_Missense_Mutation_p.E1339D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	42	114	0	171	1489	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATAGAGATGAGAAGCACAAGC	0.493000										TCGA Ovarian(4;0.039)			1	1	1	1	1	1	1.000000	48	128	0	186	0	0	0	0	0	186	5
PUS3	83480	broad.mit.edu	37	11	125765618	125765618	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr11:125765618C>G	ENST00000227474.3	-	3	542	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000526028.1_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.E149Q|HYLS1_ENST00000425380.2_Intron	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	26	69	0	119	149						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	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)		TTAGCCTCCTCTTTTACATTA	0.493000													1	1	1	1	1	1	1.000000	29	73	0	141	1	7.113073e-01	4	3	0	141	5
FGF6	2251	broad.mit.edu	37	12	4554486	4554486	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:4554486C>T	ENST00000228837.2	-	1	294	c.251G>A	c.(250-252)cGg>cAg	p.R84Q		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	35	79	1	64	84					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			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CCTCCGCTGCCGCTTGATCCC	0.652000													1	0	1	1	1	1	1.000000	38	83	1	67	0	0	0	0	1	67	4
KIAA1551	55196	broad.mit.edu	37	12	32138280	32138280	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:32138280C>T	ENST00000312561.4	+	4	4805	c.4391C>T	c.(4390-4392)tCg>tTg	p.S1464L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551	5	67	0	58									p.S1464L(1)									AATAAAGCATCGAAGAAAATC	0.373000													0	0	1	0	1	1	0.939716	5	71	0	61	1	3.961588e-01	6	12	0	61	2
LRP1	4035	broad.mit.edu	37	12	57581077	57581077	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:57581077A>G	ENST00000243077.3	+	42	7335	c.6869A>G	c.(6868-6870)tAt>tGt	p.Y2290C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	26	42	0	74	2290					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			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCTGGCCTATCACCGTGGC	0.637000													1	1	1	1	1	1	1.000000	29	42	0	83	0	0	1	0	0	83	5
OS9	10956	broad.mit.edu	37	12	58113962	58113962	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:58113962G>A	ENST00000315970.7	+	13	1722	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	OS9_ENST00000551035.1_Intron|OS9_ENST00000257966.8_Intron|OS9_ENST00000439210.2_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389146.6_Missense_Mutation_p.E546K|OS9_ENST00000389142.5_Intron|OS9_ENST00000435406.2_Intron|OS9_ENST00000552285.1_Intron|OS9_ENST00000413095.2_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	39	85	0	119	561					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			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GACTGTCCTCGAGATGAAACG	0.602000													1	1	1	1	1	1	1.000000	42	91	0	127	1	1	65	416	0	127	5
TPH2	121278	broad.mit.edu	37	12	72338371	72338371	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr12:72338371G>C	ENST00000333850.3	+	4	586	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	20	76	0	71	149					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AACAGAGCTAGAGGATGTGCC	0.433000													1	1	1	1	1	1	0.999999	21	78	0	76	0	0	0	0	0	76	5
USPL1	10208	broad.mit.edu	37	13	31233271	31233271	+	Silent	SNP	T	T	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr13:31233271T>C	ENST00000255304.4	+	9	3399	c.3057T>C	c.(3055-3057)caT>caC	p.H1019H		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	14	80	0	76	1019					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		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)		AGAACACACATCTGAGACAGG	0.418000													1	1	1	1	1	1	0.999829	14	87	0	78	1	9.906144e-01	4	48	0	78	5
PARP2	10038	broad.mit.edu	37	14	20818779	20818779	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:20818779G>A	ENST00000527915.1	+	5	463	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	PARP2_ENST00000250416.5_Missense_Mutation_p.R153Q|PARP2_ENST00000429687.3_Missense_Mutation_p.R140Q			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	8	52	0	41	153					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	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)		AGATGGGGCCGAGGTAATGAT	0.413000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					1	1	1	1	1	1	0.990854	8	59	0	43	1	6.318846e-01	4	13	0	43	5
JPH4	84502	broad.mit.edu	37	14	24040296	24040296	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:24040296C>T	ENST00000397118.3	-	6	2546	c.1644G>A	c.(1642-1644)gaG>gaA	p.E548E	JPH4_ENST00000356300.4_Silent_p.E548E|JPH4_ENST00000544177.1_Silent_p.E213E	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	65	61	0	173	548					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTCTTCATCCTCCCCCTCCT	0.672000													1	1	1	1	1	1	1.000000	68	63	0	185	1	9.023349e-01	6	0	0	185	5
AKAP6	9472	broad.mit.edu	37	14	33292748	33292748	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:33292748C>T	ENST00000280979.4	+	13	5899	c.5729C>T	c.(5728-5730)cCg>cTg	p.P1910L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	7	26	0	42	1910					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	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)		AAGGGAAAACCGAATGTGACT	0.343000													1	0	1	1	1	1	0.984634	7	27	0	46	0	0	0	0	0	46	4
C14orf79	122616	broad.mit.edu	37	14	105455303	105455303	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr14:105455303T>G	ENST00000547315.1	+	2	1086	c.447T>G	c.(445-447)atT>atG	p.I149M	C14orf79_ENST00000550614.1_5'UTR|C14orf79_ENST00000549584.1_3'UTR	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	6	32	0	41	149										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			ATGAGAACATTTTAAAGTGTG	0.373000													1	0	1	1	1	1	0.983921	7	34	0	44	0	2.396849e-01	1	4	0	44	4
PLA2G4D	283748	broad.mit.edu	37	15	42374009	42374009	+	Silent	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr15:42374009G>C	ENST00000290472.3	-	10	901	c.807C>G	c.(805-807)ctC>ctG	p.L269L		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	57	83	0	167	269					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		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)		CCTCTGCCTTGAGCTGCAGCC	0.587000													1	1	1	1	1	1	1.000000	62	88	0	194	0	0	0	0	0	194	5
PRTG	283659	broad.mit.edu	37	15	55931950	55931950	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr15:55931950G>C	ENST00000389286.4	-	13	2261	c.2214C>G	c.(2212-2214)atC>atG	p.I738M		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	43	42	0	107	738	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AGTGCAGGAAGATGGAAGATG	0.488000													1	1	1	1	1	1	1.000000	48	48	0	124	0	0	0	0	0	124	5
ALG1	56052	broad.mit.edu	37	16	5122951	5122951	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr16:5122951G>T	ENST00000588623.1	+	3	975		c.e3-1		ALG1_ENST00000544428.1_Splice_Site|ALG1_ENST00000262374.5_Splice_Site			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	6	75	0	67						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			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TCATTTTTCAGACTCCAAACC	0.438000													1	0	1	1	0	1	0.982037	7	83	0	71	0	0	1	0	0	71	3
CDH16	1014	broad.mit.edu	37	16	66944333	66944333	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr16:66944333G>C	ENST00000299752.4	-	15	2190	c.1997C>G	c.(1996-1998)aCt>aGt	p.T666S	CDH16_ENST00000565796.1_Intron|CDH16_ENST00000570262.1_Missense_Mutation_p.T586S|CDH16_ENST00000394055.3_Missense_Mutation_p.T644S|CDH16_ENST00000568632.1_Missense_Mutation_p.T569S	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	50	35	0	99	666	Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGGGCAAGAGTCAGGGCTGG	0.637000													1	1	1	1	1	1	1.000000	53	36	0	101	1	9.754406e-01	7	0	0	101	5
AP1G1	164	broad.mit.edu	37	16	71823359	71823359	+	Silent	SNP	C	C	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr16:71823359C>A	ENST00000299980.4	-	2	465	c.24G>T	c.(22-24)cgG>cgT	p.R8R	AP1G1_ENST00000393512.3_Silent_p.R8R|AP1G1_ENST00000569748.1_Silent_p.R8R|AP1G1_ENST00000433195.2_Silent_p.R31R|AP1G1_ENST00000423132.2_Silent_p.R8R|AP1G1_ENST00000570297.1_5'UTR	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	12	26	0	67	8					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			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GGATCAGCTCCCGCAATCTGA	0.453000													1	1	1	1	1	1	0.999964	15	27	0	75	0	0	0	1	0	75	5
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs28934573		TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:7577559G>T	ENST00000420246.2	-	7	854	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	26	24	0	72	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.572000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	30	27	0	90	1	1	34	4	0	90	5
MYH2	4620	broad.mit.edu	37	17	10432392	10432392	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:10432392C>T	ENST00000245503.5	-	27	3743	c.3359G>A	c.(3358-3360)cGc>cAc	p.R1120H	MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1120H|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	35	19	0	68	1120					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCTCAATGCGGGCCTGGGA	0.532000													1	1	1	1	1	1	1.000000	37	22	0	62	0	0	0	0	0	62	5
TMUB2	79089	broad.mit.edu	37	17	42268225	42268225	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:42268225G>A	ENST00000319511.6	+	3	1549	c.899G>A	c.(898-900)gGa>gAa	p.G300E	TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.G300E|TMUB2_ENST00000538716.2_Missense_Mutation_p.G320E|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000587989.1_Missense_Mutation_p.G320E|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000446571.3_Missense_Mutation_p.G263E|TMUB2_ENST00000357984.3_Missense_Mutation_p.G300E|TMUB2_ENST00000592825.1_3'UTR	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	44	112	0	106	320						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGGATGTATGGACGATAAGGA	0.527000													1	1	1	1	1	1	1.000000	47	120	0	116	1	1	36	54	0	116	5
SLC16A5	9121	broad.mit.edu	37	17	73096220	73096220	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096220C>T	ENST00000450736.2	+	4	877	c.462C>T	c.(460-462)ctC>ctT	p.L154L	SLC16A5_ENST00000580123.1_Silent_p.L154L|SLC16A5_ENST00000538213.2_Silent_p.L194L|SLC16A5_ENST00000329783.4_Silent_p.L154L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	13	45	0	35	154					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCATCACCCTCTGGCCGCTGC	0.647000													1	1	1	1	1	1	0.999876	14	46	0	35	0	3.506091e-01	1	4	0	35	5
SLC16A5	9121	broad.mit.edu	37	17	73096514	73096514	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096514C>T	ENST00000450736.2	+	4	1171	c.756C>T	c.(754-756)ttC>ttT	p.F252F	SLC16A5_ENST00000580123.1_Silent_p.F252F|SLC16A5_ENST00000538213.2_Silent_p.F292F|SLC16A5_ENST00000329783.4_Silent_p.F252F			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	17	52	0	49	252					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.F252L(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TCCTGGGCTTCCCACTGCCAC	0.607000													1	1	1	1	1	1	0.999998	20	62	0	53	0	6.223277e-01	0	8	0	53	5
SLC16A5	9121	broad.mit.edu	37	17	73096694	73096694	+	Silent	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096694C>G	ENST00000450736.2	+	4	1351	c.936C>G	c.(934-936)ctC>ctG	p.L312L	SLC16A5_ENST00000580123.1_Silent_p.L312L|SLC16A5_ENST00000538213.2_Silent_p.L352L|SLC16A5_ENST00000329783.4_Silent_p.L312L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	26	113	0	111	312					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCCTGGCACTCCTGCTCAATG	0.612000													1	1	1	1	1	1	1.000000	28	122	0	123	0	7.969167e-01	0	15	0	123	5
SLC16A5	9121	broad.mit.edu	37	17	73096839	73096839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73096839C>T	ENST00000450736.2	+	4	1496	c.1081C>T	c.(1081-1083)Cag>Tag	p.Q361*	SLC16A5_ENST00000580123.1_Nonsense_Mutation_p.Q361*|SLC16A5_ENST00000538213.2_Nonsense_Mutation_p.Q401*|SLC16A5_ENST00000329783.4_Nonsense_Mutation_p.Q361*			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	15	49	0	41	361					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CCCCATGGATCAGTTCCCCAG	0.627000													1	1	1	1	1	1	0.999939	15	49	0	43	0	7.186614e-01	1	9	0	43	5
SLC16A5	9121	broad.mit.edu	37	17	73100228	73100228	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr17:73100228C>G	ENST00000450736.2	+	5	1732	c.1317C>G	c.(1315-1317)ttC>ttG	p.F439L	SLC16A5_ENST00000580123.1_Missense_Mutation_p.F439L|SLC16A5_ENST00000538213.2_Missense_Mutation_p.F479L|SLC16A5_ENST00000329783.4_Missense_Mutation_p.F439L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	15	65	0	43	439					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GGGATCTTTTCTTGGAAGCCA	0.572000													1	1	1	1	1	1	0.999924	15	70	0	44	1	8.443644e-01	4	14	0	44	5
SERPINB8	5271	broad.mit.edu	37	18	61654204	61654204	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr18:61654204C>T	ENST00000397985.2	+	7	1073	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	SERPINB8_ENST00000353706.2_Silent_p.L273L|SERPINB8_ENST00000542677.1_Silent_p.L91L|SERPINB8_ENST00000493661.1_Intron	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	19	53	0	63	273					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAGATTAAAGCTGGAGGAGAG	0.398000													1	1	1	1	1	1	0.999999	21	54	0	69	0	7.022821e-01	1	5	0	69	5
AKAP8	10270	broad.mit.edu	37	19	15472610	15472610	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:15472610C>G	ENST00000269701.2	-	11	1386	c.1326G>C	c.(1324-1326)aaG>aaC	p.K442N		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	26	21	0	40	442					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TCTCAATTTTCTTATTTCTGT	0.453000													1	1	1	1	1	1	1.000000	29	22	0	45	1	9.999908e-01	8	14	0	45	5
CLASRP	11129	broad.mit.edu	37	19	45561130	45561130	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:45561130A>T	ENST00000544944.2	+	6	1279	c.587A>T	c.(586-588)gAc>gTc	p.D196V	CLASRP_ENST00000391953.4_Missense_Mutation_p.D134V|CLASRP_ENST00000221455.3_Missense_Mutation_p.D196V			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	30	40	0	65	196					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AGCAACTCGGACGAAGATGAG	0.612000													1	1	1	1	1	1	1.000000	32	42	0	69	1	9.979311e-01	8	9	0	69	5
ZNF749	388567	broad.mit.edu	37	19	57953359	57953359	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr19:57953359T>A	ENST00000334181.4	+	2	372	c.122T>A	c.(121-123)tTt>tAt	p.F41Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	9	224	0	90	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		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)		TTGGAGAACTTTGCGCTTTTG	0.458000													1	0	1	1	0	1	0.997050	10	238	0	96	0	0	0	0	0	96	3
PREX1	57580	broad.mit.edu	37	20	47269915	47269915	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr20:47269915C>T	ENST00000396220.1	-	20	2352	c.2330G>A	c.(2329-2331)cGg>cAg	p.R777Q	PREX1_ENST00000371941.3_Missense_Mutation_p.R777Q			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	65	118	0	172	777					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			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCTTCGCGCCGACTCCGGAA	0.582000													1	1	1	1	1	1	1.000000	67	130	0	182	0	1.178894e-01	0	2	0	182	5
SLCO4A1	28231	broad.mit.edu	37	20	61288206	61288206	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr20:61288206C>T	ENST00000217159.1	+	2	605	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.R134C	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	7	71	0	52	134					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CCTGGAGCGCCGCTATGACCT	0.612000													1	1	1	1	0	1	0.982149	7	77	0	58	0	2.668222e-02	0	3	0	58	4
TPTE	7179	broad.mit.edu	37	21	10921996	10921996	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr21:10921996C>T	ENST00000298232.7	-	17	1341		c.e17-1		TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000361285.4_Splice_Site|TPTE_ENST00000415664.2_Splice_Site	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	15	41	0	46						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		CCTGTTCTATCTAGAAAAGAA	0.313000													1	1	1	1	0	1	0.999974	16	43	0	54	0	0	0	0	0	54	4
TRPM2	7226	broad.mit.edu	37	21	45811363	45811363	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr21:45811363C>T	ENST00000397928.1	+	11	2094	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Intron|TRPM2_ENST00000397932.2_Missense_Mutation_p.A550V|TRPM2_ENST00000300482.5_Missense_Mutation_p.A550V	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	12	19	0	27	550						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCGGCTTgcgcgcccgcggcg	0.687000													1	1	1	1	0	1	0.999934	14	22	0	33	0	0	0	0	0	33	4
LZTR1	8216	broad.mit.edu	37	22	21344752	21344752	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr22:21344752C>G	ENST00000215739.8	+	8	1088	c.729C>G	c.(727-729)ttC>ttG	p.F243L	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.F224L	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	92	29	0	99	243					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	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)			TGTTTGTATTCTCTGGGCAAA	0.567000													1	1	1	1	1	1	1.000000	95	30	0	104	1	9.984141e-01	5	2	0	104	5
CABIN1	23523	broad.mit.edu	37	22	24561546	24561546	+	Silent	SNP	C	C	T			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr22:24561546C>T	ENST00000398319.2	+	31	5344	c.4959C>T	c.(4957-4959)ttC>ttT	p.F1653F	CABIN1_ENST00000337989.7_Silent_p.F78F|CABIN1_ENST00000405822.2_Silent_p.F1574F|CABIN1_ENST00000263119.5_Silent_p.F1653F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	27	9	0	29	1653					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCGGGCCTTCATCCTCACTG	0.602000													1	1	1	1	1	1	1.000000	28	11	0	33	1	1	28	4	0	33	5
ZC4H2	55906	broad.mit.edu	37	X	64141740	64141740	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:64141740G>A	ENST00000545618.1	-	3	730	c.167C>T	c.(166-168)gCc>gTc	p.A56V	ZC4H2_ENST00000374839.3_Missense_Mutation_p.A61V|ZC4H2_ENST00000337990.2_Missense_Mutation_p.A38V|ZC4H2_ENST00000447788.2_Missense_Mutation_p.A61V|ZC4H2_ENST00000488608.1_5'UTR			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	7	20	0	28	61							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTCCACATGGGCCATCTTCTC	0.507000													1	1	1	1	1	1	0.992918	8	21	0	30	1	6.262308e-01	4	3	0	30	5
HDAC8	55869	broad.mit.edu	37	X	71684476	71684476	+	Silent	SNP	T	T	C			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:71684476T>C	ENST00000373573.3	-	8	1184	c.843A>G	c.(841-843)ccA>ccG	p.P281P	HDAC8_ENST00000429103.2_Silent_p.P86P|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373589.4_Silent_p.P190P	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	16	84	0	112	281	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			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CAATTCCCACTGGAGTCATGT	0.448000													1	1	1	1	1	1	0.999995	19	94	0	127	1	8.960288e-01	5	17	0	127	5
TAF7L	54457	broad.mit.edu	37	X	100531442	100531442	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:100531442C>G	ENST00000372907.3	-	10	1035	c.1024G>C	c.(1024-1026)Gat>Cat	p.D342H	TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.D256H	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	30	36	0	81	342	Glu-rich.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						tcatcctcatcttcatcatcc	0.418000													1	1	1	1	1	1	1.000000	30	40	0	82	0	0	0	0	0	82	5
RNF128	79589	broad.mit.edu	37	X	105937564	105937564	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:105937564G>A	ENST00000324342.3	+	1	497	c.332G>A	c.(331-333)aGa>aAa	p.R111K		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	13	25	0	61	137	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ACAGCGGGCAGAAGAAATGCT	0.383000													1	1	1	1	1	1	0.999916	14	28	0	64	0	0	0	0	0	64	5
MAGEC2	51438	broad.mit.edu	37	X	141290899	141290899	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chrX:141290899C>G	ENST00000247452.3	-	3	1222	c.875G>C	c.(874-876)aGt>aCt	p.S292T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	24	59	0	117	292	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGGAGAACTGTGGGGCAC	0.498000										HNSCC(46;0.14)			1	1	1	1	1	1	1.000000	25	62	0	123	0	0	0	0	0	123	5
KLF6	1316	broad.mit.edu	37	10	3822356	3822356	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ND-A4W6-01A-11D-A28R-08	TCGA-ND-A4W6-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72a15de6-7832-4e02-a888-999ad45192ad	6ef05129-3199-4859-9ae4-e0b4d7558fd5	g.chr10:3822356delT	ENST00000497571.1	-	3	1002	c.742delA	c.(742-744)ccfs	p.T248fs	KLF6_ENST00000542957.1_Intron|KLF6_ENST00000173785.4_5'UTR	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	38	45	0	76	248					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		AAGTGCCTGGTTAACTCATCA	0.552000													1	1	1	1	0	1	1.000000	38	83	0	77	1	8.655354e-01	3	7	0	77	4
ARHGEF10L	55160	broad.mit.edu	37	1	17966763	17966763	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:17966763G>T	ENST00000361221.3	+	21	2397	c.2238G>T	c.(2236-2238)tgG>tgT	p.W746C	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.W707C|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.W449C|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.W707C|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.W741C|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.W519C	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	12	0	0	11	746					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		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)		AGATTTCCTGGGTCAACAGGT	0.572000													1	1	1	1	1	1	0.999999	13	0	0	14	1	1	49	4	0	14	5
CYP4X1	260293	broad.mit.edu	37	1	47495700	47495700	+	Silent	SNP	T	T	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:47495700T>C	ENST00000371901.3	+	2	466	c.216T>C	c.(214-216)atT>atC	p.I72I	CYP4X1_ENST00000538609.1_Silent_p.I71I	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	33	40	0	81	72						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTGAGGAAATTATTGAAAAAT	0.418000													1	1	1	1	1	1	1.000000	37	42	0	89	1	9.856866e-01	4	7	0	89	5
NRD1	4898	broad.mit.edu	37	1	52258048	52258048	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:52258048C>A	ENST00000354831.7	-	27	3217		c.e27+1		NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000352171.7_Splice_Site|NRD1_ENST00000485608.1_Splice_Site	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	14	23	0	40						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			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TATGCACTTACCACAAGCAGC	0.502000													1	1	1	1	1	1	0.999994	17	25	0	44	0	1	1	144	0	44	5
PCSK9	255738	broad.mit.edu	37	1	55527145	55527145	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:55527145G>A	ENST00000302118.5	+	11	2069	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	9	8	0	16	593					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			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GCCACAGGGAGGCCAGCATCC	0.652000													0	1	1	1	1	1	0.998141	9	8	0	17	1	9.898051e-01	4	8	0	17	4
ASTN1	460	broad.mit.edu	37	1	176838076	176838076	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:176838076C>A	ENST00000367654.2	-	22	3588	c.3575G>T	c.(3574-3576)gGt>gTt	p.G1192V	ASTN1_ENST00000367657.3_Missense_Mutation_p.G1184V|ASTN1_ENST00000424564.2_Missense_Mutation_p.G1184V|ASTN1_ENST00000361833.2_Missense_Mutation_p.G1184V			O14525	ASTN1_HUMAN	astrotactin 1	29	46	0	77	1192					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGTGGGGGAACCCAGATCCAG	0.512000													1	1	1	1	1	1	1.000000	31	50	0	85	1	9.999952e-01	31	6	0	85	5
EFCAB2	84288	broad.mit.edu	37	1	245246946	245246946	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr1:245246946G>T	ENST00000366522.2	+	7	878	c.737G>T	c.(736-738)gGg>gTg	p.G246V	EFCAB2_ENST00000447569.2_Missense_Mutation_p.G110V|EFCAB2_ENST00000487845.1_3'UTR|EFCAB2_ENST00000366523.1_Missense_Mutation_p.G110V			Q5VUJ9	EFCB2_HUMAN	EF-hand calcium binding domain 2	4	2	0	8	246	EF-hand 2.						calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			GCTAAACGTGGGTTTCTTACT	0.294000													0	0	1	1	0	1	0.922494	4	2	0	10	1	9.927761e-01	5	8	0	10	2
ZC3H6	376940	broad.mit.edu	37	2	113089467	113089467	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:113089467C>T	ENST00000409871.1	+	12	3373	c.2972C>T	c.(2971-2973)gCa>gTa	p.A991V	ZC3H6_ENST00000343936.4_Missense_Mutation_p.A991V	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	15	18	0	30	991							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GATTCACATGCATCAAAGGGT	0.473000													1	1	1	1	1	1	0.999974	15	20	0	32	1	4.017945e-01	3	0	0	32	5
SCN3A	6328	broad.mit.edu	37	2	166019317	166019317	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:166019317G>A	ENST00000360093.3	-	8	1207	c.716C>T	c.(715-717)gCc>gTc	p.A239V	SCN3A_ENST00000409101.3_Missense_Mutation_p.A239V|SCN3A_ENST00000283254.7_Missense_Mutation_p.A239V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	39	80	0	112	239						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTGGATCAGGGCCCCCACAAT	0.453000													1	1	1	1	1	1	1.000000	44	88	0	122	0	0	0	0	0	122	5
PLCL1	5334	broad.mit.edu	37	2	198950127	198950127	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:198950127A>T	ENST00000428675.1	+	2	2284	c.1886A>T	c.(1885-1887)gAg>gTg	p.E629V	PLCL1_ENST00000437704.2_Missense_Mutation_p.E531V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	7	24	0	42	629	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAGTACCCAGAGGATTTTGTT	0.368000													1	1	1	1	1	1	0.984761	7	25	0	42	0	0	0	1	0	42	5
ZNF142	7701	broad.mit.edu	37	2	219508021	219508021	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr2:219508021T>C	ENST00000411696.2	-	7	3997	c.3218A>G	c.(3217-3219)aAt>aGt	p.N1073S	ZNF142_ENST00000449707.1_Missense_Mutation_p.N1073S			P52746	ZN142_HUMAN	zinc finger protein 142	11	50	0	57	1073					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		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)		AGAGTCCCCATTGCTCAACGG	0.602000													1	1	1	1	1	1	0.999435	12	51	0	61	1	9.352889e-01	11	12	0	61	5
KAT2B	8850	broad.mit.edu	37	3	20082165	20082165	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:20082165G>T	ENST00000263754.4	+	1	651	c.196G>T	c.(196-198)Gga>Tga	p.G66*		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	5	17	0	19	66					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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CACGGCCGAAGGACCGGGAGG	0.746000													1	1	1	1	0	1	0.971721	6	19	0	19	0	1.762452e-01	0	3	0	19	4
SCN11A	11280	broad.mit.edu	37	3	38949535	38949535	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:38949535G>C	ENST00000302328.3	-	10	1576	c.1378C>G	c.(1378-1380)Ctc>Gtc	p.L460V	SCN11A_ENST00000456224.3_Missense_Mutation_p.L460V|SCN11A_ENST00000444237.2_Missense_Mutation_p.L460V|SCN11A_ENST00000450244.1_Missense_Mutation_p.L460V	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	32	42	0	49	460					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTACCAAAGAGCTTTCTCTTT	0.393000													1	1	1	1	1	1	1.000000	35	46	0	50	0	0	0	0	0	50	5
PARP14	54625	broad.mit.edu	37	3	122420030	122420030	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:122420030G>A	ENST00000474629.2	+	6	2895	c.2629G>A	c.(2629-2631)Gtg>Atg	p.V877M		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	10	46	0	25	877	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTACCACCACGTGATCCATGC	0.577000													1	1	1	1	1	1	0.997751	10	47	0	25	1	9.464951e-01	3	24	0	25	5
SMC4	10051	broad.mit.edu	37	3	160137275	160137275	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:160137275G>C	ENST00000357388.3	+	12	2252	c.1801G>C	c.(1801-1803)Gat>Cat	p.D601H	SMC4_ENST00000360111.2_Missense_Mutation_p.D601H|SMC4_ENST00000469762.1_Missense_Mutation_p.D576H|SMC4_ENST00000344722.5_Missense_Mutation_p.D601H|SMC4_ENST00000462787.1_Missense_Mutation_p.D601H|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	66	39	0	46	601	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAAGTCCTTGATGCAATAAT	0.338000													1	1	1	1	1	1	1.000000	78	43	0	52	1	1	85	49	0	52	5
OSTN	344901	broad.mit.edu	37	3	190967905	190967905	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:190967905G>A	ENST00000339051.1	+	3	397	c.397G>A	c.(397-399)Ggc>Agc	p.G133S	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	43	60	0	43	133					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		AAATTCCAGAGGCTAATTGAT	0.368000													1	1	1	1	1	1	1.000000	45	66	0	47	0	1.678311e-01	0	2	0	47	5
IL2	3558	broad.mit.edu	37	4	123374885	123374885	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr4:123374885C>T	ENST00000226730.4	-	3	615	c.331G>A	c.(331-333)Gta>Ata	p.V111I		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	16	18	0	35	111					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	p.V111L(1)		endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		AGAACTATTACGTTGATATTG	0.353000			T	TNFRSF17	intestinal T-cell lymphoma								1	1	1	1	1	1	0.999996	17	20	0	36	0	0	0	0	0	36	5
LARP1B	55132	broad.mit.edu	37	4	129128488	129128488	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr4:129128488C>T	ENST00000326639.6	+	19	2708	c.2497C>T	c.(2497-2499)Ctt>Ttt	p.L833F	LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.L774F|LARP1B_ENST00000441387.1_3'UTR|LARP1B_ENST00000354456.3_Missense_Mutation_p.L252F	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	10	9	0	24	833							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TGACCCAAAACTTCAGGAATA	0.313000													1	1	1	1	1	1	0.999070	10	10	0	28	1	6.721739e-01	2	2	0	28	5
SLC12A7	10723	broad.mit.edu	37	5	1093658	1093658	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr5:1093658C>A	ENST00000264930.5	-	3	375	c.332G>T	c.(331-333)cGg>cTg	p.R111L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	4	1	0	9	111					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	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)	CTTGGCCTCCCGCCGCCGGCT	0.662000													0	0	1	1	0	1	0.932900	4	1	0	10	1	9.999634e-01	18	18	0	10	2
ADCY2	108	broad.mit.edu	37	5	7709333	7709333	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr5:7709333C>T	ENST00000338316.4	+	10	1500	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R291W	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	15	24	0	54	471					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			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGGAGAACGACGGAGCCCCCA	0.587000													1	1	1	1	1	1	0.999992	17	29	0	62	0	0	0	0	0	62	5
SQSTM1	8878	broad.mit.edu	37	5	179251284	179251284	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr5:179251284C>T	ENST00000389805.4	+	4	812	c.634C>T	c.(634-636)Cgt>Tgt	p.R212C	SQSTM1_ENST00000376929.3_Missense_Mutation_p.R128C|SQSTM1_ENST00000402874.3_Missense_Mutation_p.R128C|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R212C|SQSTM1_ENST00000360718.5_Missense_Mutation_p.R128C	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	19	29	0	74	212	Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).				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)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	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)			ACGTCCTCCTCGTGCAGGGGA	0.622000													1	1	1	1	1	1	1.000000	23	30	0	75	1	1	211	305	0	75	5
HIST1H3G	8355	broad.mit.edu	37	6	26271424	26271424	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr6:26271424G>A	ENST00000305910.3	-	1	188	c.189C>T	c.(187-189)atC>atT	p.I63I		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	49	96	0	126	63					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GCAACTTGCGGATCAGCAGCT	0.617000													1	1	1	1	1	1	1.000000	49	108	0	132	0	4.997107e-01	1	4	0	132	5
ICK	22858	broad.mit.edu	37	6	52884097	52884097	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr6:52884097T>G	ENST00000356971.3	-	7	908	c.419A>C	c.(418-420)aAa>aCa	p.K140T	ICK_ENST00000350082.5_Missense_Mutation_p.K140T	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	8	27	0	16	140	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					GTCTGCAATTTTCACAAGTTC	0.388000													1	1	1	1	1	1	0.996183	9	28	0	18	0	3.798699e-01	1	4	0	18	5
MICAL1	64780	broad.mit.edu	37	6	109775014	109775014	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr6:109775014C>T	ENST00000368952.4	-	3	640	c.350G>A	c.(349-351)cGg>cAg	p.R117Q	MICAL1_ENST00000358807.3_Missense_Mutation_p.R98Q|MICAL1_ENST00000358577.3_Missense_Mutation_p.R98Q			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	66	35	0	79	98					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		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)		CACAGCGACCCGCAGCCCGCA	0.657000													1	1	1	1	1	1	1.000000	72	35	0	82	1	1	17	12	0	82	5
SEMA3D	223117	broad.mit.edu	37	7	84628909	84628909	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr7:84628909G>A	ENST00000284136.6	-	17	2224	c.2181C>T	c.(2179-2181)ctC>ctT	p.L727L	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	20	42	0	63	727					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGTACTGGTCGAGGCTGAAGT	0.512000													1	1	1	1	1	1	1.000000	21	46	0	68	0	0	0	1	0	68	5
OR51E2	81285	broad.mit.edu	37	11	4703777	4703777	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr11:4703777G>A	ENST00000396950.3	-	2	404	c.165C>T	c.(163-165)caC>caT	p.H55H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	6	77	0	86	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACATCGGAGCGTGCAGGCTGC	0.517000													1	1	1	1	0	1	0.966802	6	79	0	90	0	0	0	0	0	90	4
ABCC8	6833	broad.mit.edu	37	11	17419890	17419890	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr11:17419890C>T	ENST00000302539.4	-	30	3877	c.3752G>A	c.(3751-3753)cGa>cAa	p.R1251Q	ABCC8_ENST00000389817.3_Missense_Mutation_p.R1250Q	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	24	17	0	38	1250	ABC transmembrane type-1 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	p.R1250Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACTTGCCATTCGGACTTCCAG	0.542000													1	1	1	1	1	1	1.000000	24	18	0	44	1	5.994730e-01	3	0	0	44	5
CLEC12A	160364	broad.mit.edu	37	12	10132100	10132100	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr12:10132100G>A	ENST00000304361.4	+	3	538	c.356G>A	c.(355-357)cGt>cAt	p.R119H	CLEC12A_ENST00000434319.2_Missense_Mutation_p.R119H|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R129H|CLEC12A_ENST00000350667.4_Missense_Mutation_p.R86H	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	14	9	0	22	119						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						AAATTATGTCGTGAGCTATAT	0.343000													1	1	1	1	1	1	0.999991	15	10	0	25	0	7.964970e-01	1	3	0	25	5
PXN	5829	broad.mit.edu	37	12	120660787	120660787	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr12:120660787C>G	ENST00000536957.1	-	4	841	c.366G>C	c.(364-366)caG>caC	p.Q122H	PXN_ENST00000458477.2_5'UTR|PXN_ENST00000424649.2_Missense_Mutation_p.Q124H|PXN_ENST00000228307.7_Missense_Mutation_p.Q124H|PXN_ENST00000267257.7_Missense_Mutation_p.Q124H|PXN_ENST00000538144.1_5'UTR			P49023	PAXI_HUMAN	paxillin	25	28	0	52	124					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCTGATTTCTGCTTGTTGG	0.522000													1	1	1	1	1	1	1.000000	28	30	0	59	1	1	36	44	0	59	5
TMEM132D	121256	broad.mit.edu	37	12	129822360	129822360	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr12:129822360G>A	ENST00000422113.2	-	4	1444	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	89	13	0	112	373						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	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)		GGCGCCATCCGCACTGGAGAG	0.592000													1	1	1	1	1	1	1.000000	91	13	0	115	0	0	0	0	0	115	5
GALC	2581	broad.mit.edu	37	14	88411975	88411975	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr14:88411975C>T	ENST00000261304.2	-	14	1698	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	GALC_ENST00000544807.2_Missense_Mutation_p.R475H|GALC_ENST00000393568.4_Missense_Mutation_p.R508H|GALC_ENST00000393569.2_Missense_Mutation_p.R505H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	24	28	0	61	531			R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity).		carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGAACTTGGCGTAGCGTGAA	0.408000													1	1	1	1	1	1	1.000000	26	31	0	64	1	1	33	21	0	64	5
TUBGCP5	114791	broad.mit.edu	37	15	22848945	22848945	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr15:22848945T>C	ENST00000283645.4	+	10	1122	c.992T>C	c.(991-993)aTt>aCt	p.I331T	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.I331T	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	20	21	0	64	331					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		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)		CAGGAGTTCATTGATGAAGTC	0.458000													1	1	1	1	1	1	1.000000	21	21	0	68	1	9.815833e-01	4	6	0	68	5
KIAA0430	9665	broad.mit.edu	37	16	15729877	15729877	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr16:15729877G>A	ENST00000396368.3	-	3	673	c.467C>T	c.(466-468)tCt>tTt	p.S156F	KIAA0430_ENST00000551742.1_Missense_Mutation_p.S156F|KIAA0430_ENST00000548025.1_Missense_Mutation_p.S156F|KIAA0430_ENST00000602337.1_Missense_Mutation_p.S156F|KIAA0430_ENST00000540441.2_Missense_Mutation_p.S156F|KIAA0430_ENST00000344181.3_5'UTR	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	13	155	0	188	155						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGAAGATGCAGACTGGAAAGC	0.512000													1	1	1	1	0	1	0.999792	14	171	0	212	1	1.333765e-01	2	6	0	212	4
UMOD	7369	broad.mit.edu	37	16	20352470	20352470	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr16:20352470T>G	ENST00000396134.2	-	8	1742	c.1619A>C	c.(1618-1620)tAt>tCt	p.Y540S	UMOD_ENST00000396138.4_Missense_Mutation_p.Y556S|UMOD_ENST00000570689.1_Missense_Mutation_p.Y507S|UMOD_ENST00000424589.1_Missense_Mutation_p.Y540S|UMOD_ENST00000396142.2_Missense_Mutation_p.Y507S|UMOD_ENST00000302509.4_Missense_Mutation_p.Y507S|UMOD_ENST00000570331.1_5'UTR	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	16	25	0	43	507	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			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGTGTGGCATAGCAGTTGGT	0.542000													1	1	1	1	1	1	0.999983	16	28	0	49	0	0	0	0	0	49	5
TUFM	7284	broad.mit.edu	37	16	28855116	28855116	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr16:28855116G>T	ENST00000313511.3	-	9	1273	c.1135C>A	c.(1135-1137)Cct>Act	p.P379T		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	14	19	0	47	376						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						AACATGACAGGCATGAAGTGG	0.577000													1	1	1	1	1	1	0.999934	14	22	0	51	1	1	347	489	0	51	5
MRC2	9902	broad.mit.edu	37	17	60758178	60758178	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:60758178C>T	ENST00000303375.5	+	17	2893	c.2491C>T	c.(2491-2493)Cgc>Tgc	p.R831C		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	13	39	0	27	831					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGAATGGCTGCGCTTCCAGGA	0.726000													1	1	1	1	0	1	0.999989	17	40	0	29	1	1	174	413	0	29	4
C1QTNF1	114897	broad.mit.edu	37	17	77042776	77042776	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:77042776G>A	ENST00000339142.2	+	4	850	c.295_splice	c.e4+1	p.G99_splice	C1QTNF1_ENST00000354124.3_Splice_Site_p.G109_splice|C1QTNF1_ENST00000311661.4_Splice_Site_p.G17_splice|C1QTNF1_ENST00000583904.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000581774.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000579760.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000580474.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000578229.1_Splice_Site_p.G17_splice|C1QTNF1_ENST00000392445.2_Splice_Site_p.G99_splice|C1QTNF1_ENST00000580454.1_Splice_Site_p.G99_splice	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	60	110	0	83	99	Collagen-like.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TATCTTGAAAGGTCAGATGGC	0.627000											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	70	121	0	91	0	1.365312e-01	0	2	0	91	5
RNMT	8731	broad.mit.edu	37	18	13741541	13741541	+	Silent	SNP	A	A	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr18:13741541A>G	ENST00000383314.2	+	7	1065	c.825A>G	c.(823-825)caA>caG	p.Q275Q	RNMT_ENST00000262173.3_Silent_p.Q275Q|RNMT_ENST00000592764.1_Silent_p.Q275Q|RNMT_ENST00000535051.1_Silent_p.Q33Q|RNMT_ENST00000543302.2_Silent_p.Q275Q|RNMT_ENST00000589866.1_Silent_p.Q275Q			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	11	31	0	40	275					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GTGACCCACAAATGTGTTTTG	0.348000													1	1	1	1	1	1	0.999063	11	32	0	43	1	9.246416e-01	6	10	0	43	5
C3	718	broad.mit.edu	37	19	6678426	6678426	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:6678426G>A	ENST00000245907.6	-	39	4763	c.4671C>T	c.(4669-4671)gaC>gaT	p.D1557D	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	14	12	0	45	1557	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			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACTCGTCAAAGTCATTGGACA	0.582000													1	1	1	1	1	1	0.999986	15	13	0	52	1	1	9	100	0	52	5
AKAP8L	26993	broad.mit.edu	37	19	15512057	15512057	+	Silent	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:15512057G>A	ENST00000397410.4	-	5	784	c.720C>T	c.(718-720)ggC>ggT	p.G240G	AKAP8L_ENST00000595465.1_Silent_p.G179G|AKAP8L_ENST00000595136.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	60	79	1	237	240						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCGGGAAGGCGCCCCCACCTC	0.642000													1	1	1	1	1	1	1.000000	67	88	1	254	1	1	75	74	1	254	5
ZNF585B	92285	broad.mit.edu	37	19	37677126	37677126	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:37677126T>A	ENST00000532828.2	-	5	1564	c.1313A>T	c.(1312-1314)tAt>tTt	p.Y438F	ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.Y383F|ZNF585B_ENST00000312908.5_Missense_Mutation_p.Y26F	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	15	169	0	70	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCACATTTATAAGGTTTCTC	0.378000													1	1	1	1	1	1	0.999945	16	189	0	80	1	5.612929e-01	4	19	0	80	5
ZNF473	25888	broad.mit.edu	37	19	50549834	50549834	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:50549834C>T	ENST00000595661.1	+	6	2629	c.2134C>T	c.(2134-2136)Cgt>Tgt	p.R712C	CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.R712C|ZNF473_ENST00000270617.3_Missense_Mutation_p.R712C|ZNF473_ENST00000445728.3_Missense_Mutation_p.R700C			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	28	53	0	71	712					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			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GAAAACGTTCCGTCAGAGCTC	0.502000													1	1	1	1	1	1	1.000000	31	56	0	74	1	9.999997e-01	22	31	0	74	5
ZNF615	284370	broad.mit.edu	37	19	52496399	52496399	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:52496399G>A	ENST00000602063.1	-	6	2279	c.1930C>T	c.(1930-1932)Cga>Tga	p.R644*	ZNF615_ENST00000391795.3_Nonsense_Mutation_p.R649*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.R655*|ZNF615_ENST00000376716.5_Nonsense_Mutation_p.R644*|ZNF615_ENST00000594083.1_Nonsense_Mutation_p.R655*			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	89	44	0	100	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GTGTGAAATCGCTGATGTTGT	0.383000													1	1	1	1	1	1	1.000000	99	46	0	108	1	1	18	6	0	108	5
RRP1	8568	broad.mit.edu	37	21	45217427	45217427	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr21:45217427G>A	ENST00000497547.1	+	6	664	c.547G>A	c.(547-549)Gag>Aag	p.E183K	RRP1_ENST00000471909.1_3'UTR	NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	35	34	0	92	183					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		AGTGGGCGCCGAGGAGGTGAG	0.637000													1	1	1	1	1	1	1.000000	36	35	0	95	1	1	50	61	0	95	5
NHS	4810	broad.mit.edu	37	X	17750472	17750472	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:17750472A>G	ENST00000380060.3	+	8	5119	c.4781A>G	c.(4780-4782)tAc>tGc	p.Y1594C	NHS_ENST00000398097.3_Missense_Mutation_p.Y1438C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	64	50	0	115	1594						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGCAGCCGCTACAGTGTCCGC	0.592000													1	1	1	1	1	1	1.000000	72	54	0	122	0	8.836862e-01	0	5	0	122	5
USP11	8237	broad.mit.edu	37	X	47101057	47101057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:47101057G>T	ENST00000377107.2	+	9	1492	c.1138G>T	c.(1138-1140)Gag>Tag	p.E380*	USP11_ENST00000218348.3_Nonsense_Mutation_p.E423*			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	23	23	0	58	423					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GAAGAAGAAGGAGTATGTGGA	0.567000													1	1	1	1	1	1	1.000000	24	23	0	60	0	1	0	246	0	60	5
SLC7A3	84889	broad.mit.edu	37	X	70147405	70147405	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:70147405C>T	ENST00000374299.3	-	7	1256	c.1112G>A	c.(1111-1113)cGt>cAt	p.R371H	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R371H			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	12	30	0	22	371					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGCAAGTACACGGAACAGGAG	0.587000													1	1	1	1	1	1	0.999794	13	32	0	23	0	5.646423e-01	0	6	0	23	5
ATP7A	538	broad.mit.edu	37	X	77298882	77298882	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:77298882A>C	ENST00000341514.6	+	21	4228	c.4073A>C	c.(4072-4074)aAt>aCt	p.N1358T	ATP7A_ENST00000343533.5_Missense_Mutation_p.N1280T|ATP7A_ENST00000350425.4_Missense_Mutation_p.N361T	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	32	53	0	68	1358					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|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			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						ATTCGGATAAATTTTGTCTTT	0.343000													1	1	1	1	1	1	1.000000	32	59	0	72	1	8.268430e-01	8	0	0	72	5
RPS6KA6	27330	broad.mit.edu	37	X	83359667	83359667	+	Splice_Site	SNP	T	T	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:83359667T>A	ENST00000262752.2	-	17	1463		c.e17-2		RPS6KA6_ENST00000495332.1_Splice_Site|RPS6KA6_ENST00000543399.1_Splice_Site	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	10	13	0	16						axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATCAAAGACCTACAAAAGAAC	0.294000													0	1	1	1	1	1	0.999759	12	15	0	16	0	0	1	0	0	16	4
PCDH11X	27328	broad.mit.edu	37	X	91090729	91090729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:91090729C>T	ENST00000373094.1	+	1	1071	c.226C>T	c.(226-228)Cga>Tga	p.R76*	PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000504220.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	52	102	0	143	76	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCACTGATTCGAATTGAAGA	0.443000													1	1	1	1	1	1	1.000000	57	109	0	148	0	0	0	0	0	148	5
CSTF2	1478	broad.mit.edu	37	X	100079128	100079128	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:100079128C>A	ENST00000415585.2	+	6	606	c.584C>A	c.(583-585)aCa>aAa	p.T195K	CSTF2_ENST00000372972.2_Missense_Mutation_p.T195K|CSTF2_ENST00000486615.1_Intron			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	30	84	0	86	195	Interactions with CSTF3 and SYMPK.				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|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CATCGCCAGACAAATATCCCA	0.473000													1	1	1	1	1	1	1.000000	35	95	0	93	0	9.995974e-01	0	37	0	93	5
TREX2	11219	broad.mit.edu	37	X	152710335	152710335	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:152710335C>T	ENST00000330912.2	-	13	2104	c.554G>A	c.(553-555)aGc>aAc	p.S185N	TREX2_ENST00000338525.2_Missense_Mutation_p.S185N|TREX2_ENST00000370232.1_Missense_Mutation_p.S228N|TREX2_ENST00000334497.2_Missense_Mutation_p.S228N|TREX2_ENST00000414588.1_Missense_Mutation_p.S227N|TREX2_ENST00000393862.2_Missense_Mutation_p.S185N|TREX2_ENST00000370231.2_Missense_Mutation_p.S185N|TREX2_ENST00000402951.1_Missense_Mutation_p.S228N			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	12	4	0	21	228					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGCTGCGCTTGGCTCTGC	0.736000								Editing and processing nucleases					1	1	1	1	1	1	0.999977	13	5	0	26	1	9.525692e-01	2	3	0	26	5
FLNA	0	broad.mit.edu	37	X	153590696	153590696	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chrX:153590696G>A	ENST00000422373.1	-	18	2818	c.2570C>T	c.(2569-2571)aCg>aTg	p.T857M	FLNA_ENST00000344736.4_Missense_Mutation_p.T857M|FLNA_ENST00000369850.3_Missense_Mutation_p.T857M|FLNA_ENST00000360319.4_Missense_Mutation_p.T857M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	34	85	0	86	857					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)					GCTGGTGGGCGTGGCCTGCAG	0.637000													1	1	1	1	1	1	1.000000	38	93	0	90	1	1	9	319	0	90	5
EIF4G1	1981	broad.mit.edu	37	3	184046479	184046480	+	Frame_Shift_Ins	INS	-	-	TACCTAGCGGA			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			-	TACCTAGCGGA	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr3:184046479_184046480insTACCTAGCGGA	ENST00000342981.4	+	26	4431_4432	c.4017_4018insTACCTAGCGGA	c.(4015-4020)ctacctfs	p.P1340fs	EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.P1143fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.P1346fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.P1176fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.P1175fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.P1300fs|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.P1253fs|EIF4G1_ENST00000346169.2_Frame_Shift_Ins_p.P1339fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.P1144fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.P1299fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.P1346fs|EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.P1252fs|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.P1339fs|EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.P1346fs	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	11	253	0	105	1339	MI.				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	p.L1338L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACGTGTGGCTCTACCTAGCGGA	0.525000													1	0	1	1	0	1	0.999166	12	286	0	109	0	9.999889e-01	0	545	0	109	3
PKHD1L1	93035	broad.mit.edu	37	8	110457553	110457553	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr8:110457553delA	ENST00000378402.5	+	38	5559	c.5455delA	c.(5455-5457)aafs	p.K1819fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	20	47	0	56	1819	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTGGGAAGTAAAGGCTTGGC	0.478000										HNSCC(38;0.096)			1	1	1	1	0	1	0.999998	20	68	0	57							4
GPR179	440435	broad.mit.edu	37	17	36499029	36499030	+	Frame_Shift_Ins	INS	-	-	GCCACTTGGGGCT			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:36499029_36499030insGCCACTTGGGGCT	ENST00000342292.4	-	1	663_664	c.643_644insAGCCCCAAGTGGC	c.(643-645)gcafs	p.A215fs		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	21	194	0	115	215						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P215Q(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATCTGCCTGCGGCCACTTGGGG	0.629000													1	0	0	1	0	1	0.999998	21	240	0	120	0	0	0	1	0	120	2
TK1	7083	broad.mit.edu	37	17	76171208	76171209	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			CG	-	CG	CG		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr17:76171208_76171209delCG	ENST00000588734.1	-	6	673_674	c.435_436delCG	c.(433-438)agtgfs	p.SV145fs	TK1_ENST00000405273.1_Frame_Shift_Del_p.SV145fs|TK1_ENST00000301634.7_Frame_Shift_Del_p.SV145fs|TK1_ENST00000590430.1_3'UTR|TK1_ENST00000590862.1_Frame_Shift_Del_p.SV145fs			P04183	KITH_HUMAN	thymidine kinase 1, soluble	20	77	0	35	145					DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|thymidine kinase activity|zinc ion binding			endometrium(1)|large_intestine(1)|urinary_tract(2)	4			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23)			AGCTTCACCACGCTCTCGGCCA	0.614000													1	1	1	1	0	1	0.999997	20	98	0	36	1	1	7	205	0	36	4
ARHGAP35	2909	broad.mit.edu	37	19	47424918	47424918	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ND-A4WA-01A-12D-A28R-08	TCGA-ND-A4WA-10B-01D-A28U-08			T	-	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7258a48f-d4e4-4176-a15b-375751e10e91	ee4803a3-d432-4dcd-ba69-2ccaae1eafd2	g.chr19:47424918delT	ENST00000404338.3	+	1	2986	c.2986delT	c.(2986-2988)ttfs	p.F996fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	16	38	0	47	996					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										TTACAGCCTGTTTCGAGAAGA	0.483000													1	1	1	1	0	1	0.999969	16	55	0	47	1	9.996362e-01	4	48	0	47	4
CPSF3L	54973	broad.mit.edu	37	1	1248900	1248900	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:1248900C>T	ENST00000540437.1	-	12	1503	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	CPSF3L_ENST00000419704.1_Missense_Mutation_p.E243K|CPSF3L_ENST00000545578.1_Missense_Mutation_p.E315K|CPSF3L_ENST00000421495.2_Missense_Mutation_p.E86K|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000411962.1_Missense_Mutation_p.E246K|CPSF3L_ENST00000435064.1_Missense_Mutation_p.E344K|CPSF3L_ENST00000450926.2_Missense_Mutation_p.E322K	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	25	36	0	84	344						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	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)		ATGTTCTTTTCGTTTCCGGCC	0.592000													1	1	1	1	1	1	1.000000	27	37	0	94	1	1	101	121	0	94	5
TAS1R3	83756	broad.mit.edu	37	1	1268175	1268175	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:1268175A>C	ENST00000339381.5	+	3	1296	c.1264A>C	c.(1264-1266)Aag>Cag	p.K422Q		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	13	24	0	35	422					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	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)	GGACCCCGTGAAGCCCTGGCA	0.672000													1	1	1	1	1	1	0.999927	14	24	0	40	0	0	0	1	0	40	5
DVL1	1855	broad.mit.edu	37	1	1284285	1284285	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:1284285T>C	ENST00000378888.5	-	1	445	c.161A>G	c.(160-162)cAg>cGg	p.Q54R	DVL1_ENST00000378891.5_Missense_Mutation_p.Q54R			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	11	9	0	26	54	DIX.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	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;2.83e-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)		CCCGAAGTCCTGGTCCATGGA	0.706000													1	1	1	1	0	1	0.999655	11	9	0	28	1	9.999999e-01	28	30	0	28	4
CCDC27	148870	broad.mit.edu	37	1	3680364	3680364	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:3680364A>G	ENST00000294600.2	+	8	1500	c.1416A>G	c.(1414-1416)cgA>cgG	p.R472R		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	34	43	0	40	472										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	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)		AGGAGCTCCGAGAGCGGAGGC	0.567000													1	1	1	1	1	1	1.000000	34	46	0	43	0	0	0	0	0	43	5
CEP104	9731	broad.mit.edu	37	1	3739988	3739988	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:3739988G>A	ENST00000378230.3	-	19	2827	c.2503_splice	c.e19+1	p.P835_splice		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	32	76	0	125	835						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GGGCACTCACGGTTGCAATCC	0.537000													1	1	1	1	1	1	1.000000	34	80	0	145	1	9.993393e-01	15	16	0	145	5
CHD5	26038	broad.mit.edu	37	1	6190375	6190375	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6190375C>A	ENST00000262450.3	-	22	3375	c.3276G>T	c.(3274-3276)caG>caT	p.Q1092H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	22	39	0	65	1092	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			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	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)		AGCAGAACTGCTGGGCCCCGG	0.612000													1	1	1	1	1	1	1.000000	23	41	0	69	0	0	0	0	0	69	5
CHD5	26038	broad.mit.edu	37	1	6202593	6202593	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6202593C>T	ENST00000262450.3	-	14	2215	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	34	61	1	83	706					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	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)		TTGAGGCCCTCCAGCTGGTAC	0.627000													1	0	1	1	1	1	1.000000	38	66	1	94	0	0	0	0	1	94	4
CHD5	26038	broad.mit.edu	37	1	6228304	6228304	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6228304T>C	ENST00000262450.3	-	2	212	c.113A>G	c.(112-114)gAc>gGc	p.D38G	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	55	120	0	170	38					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	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)		AGGGAAAAAGTCATCGAAGGC	0.493000													1	1	1	1	1	1	1.000000	64	131	0	192	0	0	0	0	0	192	5
ICMT	23463	broad.mit.edu	37	1	6294539	6294539	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6294539C>A	ENST00000362035.3	-	3	345	c.317G>T	c.(316-318)aGg>aTg	p.R106M	ICMT_ENST00000343813.5_Intron			O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	3	9	0	8	0					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	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)		GGGAAAAATCCTACAGTGGCT	0.468000													0	0	1	0	0	1	0.900958	4	10	0	9	1	9.997923e-01	3	83	0	9	1
GPR153	387509	broad.mit.edu	37	1	6314737	6314737	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6314737C>T	ENST00000377893.2	-	2	488	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	48	106	1	168	77						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-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(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		TCATTCCACTCGAAGTCGGGG	0.617000													1	0	1	1	1	1	1.000000	52	112	1	187	1	9.995332e-01	9	20	1	187	4
DNAJC11	55735	broad.mit.edu	37	1	6712926	6712926	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:6712926G>A	ENST00000377577.5	-	6	716	c.593C>T	c.(592-594)gCg>gTg	p.A198V	DNAJC11_ENST00000377573.5_Missense_Mutation_p.A108V|DNAJC11_ENST00000542246.1_Missense_Mutation_p.A160V|DNAJC11_ENST00000294401.7_Missense_Mutation_p.A198V|DNAJC11_ENST00000349363.6_Missense_Mutation_p.A160V	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	32	47	0	59	198					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	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)		TCGTCTGAGCGCAAAGTTAAT	0.463000													1	1	1	1	1	1	1.000000	35	49	0	61	1	1	22	32	0	61	5
UTS2	10911	broad.mit.edu	37	1	7910941	7910941	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:7910941T>G	ENST00000377516.2	-	3	465	c.145A>C	c.(145-147)Aga>Cga	p.R49R	UTS2_ENST00000361696.5_Silent_p.R49R|UTS2_ENST00000054668.5_Silent_p.R64R			O95399	UTS2_HUMAN	urotensin 2	26	53	0	62	49					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	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)		AGGGAAGCTCTTTCTAGCTCC	0.438000													1	1	1	1	1	1	1.000000	32	62	0	76	0	0	0	0	0	76	5
H6PD	9563	broad.mit.edu	37	1	9324611	9324611	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:9324611G>A	ENST00000377403.2	+	5	2361	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	H6PD_ENST00000602477.1_Missense_Mutation_p.D698N	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	46	77	0	123	687	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	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)	CAGCAGCTTCGACCTGGTGCT	0.667000													1	1	1	1	1	1	1.000000	48	81	0	128	0	7.978423e-01	0	7	0	128	5
CLSTN1	22883	broad.mit.edu	37	1	9811693	9811693	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:9811693C>T	ENST00000377298.4	-	5	1279	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	CLSTN1_ENST00000361311.4_Missense_Mutation_p.V153M|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V163M	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	12	26	0	58	163	Cadherin 1.				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	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)		TCCTTGAACACGGGCGCGTAC	0.507000													1	1	1	1	1	1	0.999814	13	28	0	67	1	9.999999e-01	49	50	0	67	5
KIF1B	23095	broad.mit.edu	37	1	10318596	10318596	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:10318596A>C	ENST00000377086.1	+	4	431	c.229A>C	c.(229-231)Att>Ctt	p.I77L	KIF1B_ENST00000377081.1_Missense_Mutation_p.I77L|KIF1B_ENST00000377093.4_Missense_Mutation_p.I77L|KIF1B_ENST00000377083.1_Missense_Mutation_p.I77L|KIF1B_ENST00000263934.6_Missense_Mutation_p.I77L			O60333	KIF1B_HUMAN	kinesin family member 1B	5	74	0	62	77	Kinesin-motor.				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			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	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)		GTACAATGACATTGGCAAGGA	0.373000													1	1	1	1	0	1	0.939476	5	80	0	72	0	1.547455e-01	0	10	0	72	4
UBIAD1	29914	broad.mit.edu	37	1	11346072	11346072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:11346072C>T	ENST00000376810.5	+	2	1227	c.901C>T	c.(901-903)Cga>Tga	p.R301*	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	59	123	1	134	301					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GAGACAGTTTCGAAGCCAGGC	0.567000													1	0	1	1	1	1	1.000000	64	130	1	139	1	9.999925e-01	25	23	1	139	4
CLCN6	1185	broad.mit.edu	37	1	11888619	11888619	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:11888619T>C	ENST00000346436.6	+	12	1111	c.1059T>C	c.(1057-1059)tgT>tgC	p.C353C	CLCN6_ENST00000376496.3_Silent_p.C353C|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376487.3_Silent_p.C331C	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	101	189	0	287	353					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	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)		CATTCAACTGTCTGAACAAGA	0.542000													1	1	1	1	1	1	1.000000	108	199	0	326	0	0	0	1	0	326	5
VPS13D	55187	broad.mit.edu	37	1	12337274	12337274	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:12337274C>T	ENST00000358136.3	+	19	3759	c.3629C>T	c.(3628-3630)aCg>aTg	p.T1210M	VPS13D_ENST00000356315.4_Missense_Mutation_p.T1210M	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	23	110	0	129	1210					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	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)		ATGGGTAGCACGTTTGACATG	0.413000													1	1	1	1	1	1	1.000000	25	115	0	134	0	0	1	0	0	134	5
VPS13D	55187	broad.mit.edu	37	1	12414216	12414216	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:12414216C>T	ENST00000358136.3	+	47	9747	c.9617C>T	c.(9616-9618)aCg>aTg	p.T3206M	VPS13D_ENST00000356315.4_Missense_Mutation_p.T3181M	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	32	40	0	53	3205					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	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)		ATTAATGGGACGCTGAAACCT	0.438000													1	1	1	1	1	1	1.000000	34	44	0	55	0	3.999739e-01	0	3	0	55	5
PRAMEF2	65122	broad.mit.edu	37	1	12921510	12921510	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:12921510G>A	ENST00000240189.2	+	4	1388	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	72	61	0	155	434								p.R434L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	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)		ACCCCACTTCGGGCTGAGCTG	0.552000													1	1	1	1	0	1	1.000000	76	62	0	95	0	0	0	0	0	95	4
PRDM2	7799	broad.mit.edu	37	1	14106775	14106775	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:14106775G>A	ENST00000235372.7	+	8	3341	c.2485G>A	c.(2485-2487)Ggt>Agt	p.G829S	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.G628S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.G628S|PRDM2_ENST00000311066.5_Missense_Mutation_p.G829S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	21	60	0	77	829						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	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)		TTTATCCAGCGGTGTCAAACA	0.463000													1	1	1	1	1	1	1.000000	22	64	0	84	1	9.327709e-01	5	9	0	84	5
CELA2A	63036	broad.mit.edu	37	1	15789927	15789927	+	Missense_Mutation	SNP	G	G	A	rs140151330	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:15789927G>A	ENST00000359621.4	+	5	428	c.403G>A	c.(403-405)Gac>Aac	p.D135N		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	38	94	0	156	135	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CTCCCTCACCGACAAGATCCA	0.602000													1	1	1	1	1	1	1.000000	40	101	0	127	0	0	0	0	0	127	5
RSC1A1	6248	broad.mit.edu	37	1	15987116	15987116	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:15987116C>T	ENST00000345034.1	+	1	753	c.753C>T	c.(751-753)atC>atT	p.I251I	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	18	54	0	56	251					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		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)		TTATGGAAATCGATACAGCTC	0.418000													1	1	1	1	1	1	0.999999	21	66	0	73	0	5.414873e-01	1	6	0	73	5
RSC1A1	6248	broad.mit.edu	37	1	15987291	15987291	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:15987291T>G	ENST00000345034.1	+	1	928	c.928T>G	c.(928-930)Tta>Gta	p.L310V	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	31	30	0	49	310					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		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)		CACTCAGGATTTACAGCCCCC	0.393000													1	1	1	1	1	1	1.000000	32	32	0	50	1	9.842776e-01	3	7	0	50	5
SZRD1	26099	broad.mit.edu	37	1	16719767	16719767	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:16719767A>G	ENST00000401088.4	+	3	321	c.146A>G	c.(145-147)gAc>gGc	p.D49G	SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000401089.3_Missense_Mutation_p.D30G|SZRD1_ENST00000375590.3_Missense_Mutation_p.D29G|SZRD1_ENST00000471507.1_Missense_Mutation_p.D48G|SZRD1_ENST00000492354.1_Missense_Mutation_p.D29G	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1			SUZ RNA binding domain containing 1	20	139	0	141																		GTGATTCAGGACGATAGCCTT	0.577000													1	0	1	1	1	1	0.999997	20	146	0	154	1	9.999724e-01	19	114	0	154	4
NBPF1	55672	broad.mit.edu	37	1	16890524	16890524	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:16890524C>T	ENST00000430580.2	-	29	4221	c.3334G>A	c.(3334-3336)Gcc>Acc	p.A1112T		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	98	933	0	894	1092	NBPF 7.					cytoplasm									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)		ACGTCAAGGGCGAAGCTGATG	0.443000													1	1	0	1	0	1	1.000000	104	988	0	934	1	8.342098e-01	3	30	0	934	3
PADI1	29943	broad.mit.edu	37	1	17567222	17567222	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:17567222A>C	ENST00000375471.4	+	15	1817	c.1725A>C	c.(1723-1725)aaA>aaC	p.K575N	PADI1_ENST00000537499.1_Missense_Mutation_p.K132N|PADI1_ENST00000413717.2_Intron|PADI1_ENST00000536552.1_Missense_Mutation_p.K46N|PADI1_ENST00000460293.1_3'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	52	75	0	151	575					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		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)	TCTTCCTGAAAAACTTCTACG	0.577000													1	1	1	1	1	1	1.000000	56	84	0	163	1	1	48	29	0	163	5
RCC2	55920	broad.mit.edu	37	1	17740182	17740182	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:17740182G>T	ENST00000375436.4	-	9	1245	c.1058C>A	c.(1057-1059)tCc>tAc	p.S353Y	RCC2_ENST00000375433.3_Missense_Mutation_p.S353Y|AC004824.1_ENST00000583469.1_RNA	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	10	121	0	144	353					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		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)		AAAGCCCCAGGAGAAGACTCG	0.577000													1	0	1	1	0	1	0.998546	11	133	0	164	1	9.999746e-01	21	243	0	164	3
UBR4	23352	broad.mit.edu	37	1	19470546	19470546	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:19470546G>A	ENST00000375267.2	-	55	8110	c.8107C>T	c.(8107-8109)Cga>Tga	p.R2703*	UBR4_ENST00000375254.3_Nonsense_Mutation_p.R2703*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.R2731*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.R2714*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	37	69	0	111	2703					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		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)		CTTAGGACTCGAATTAGAGCT	0.438000													1	1	1	1	1	1	1.000000	42	78	0	124	1	6.798531e-01	3	3	0	124	5
UBR4	23352	broad.mit.edu	37	1	19477235	19477235	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:19477235A>C	ENST00000375267.2	-	49	7269	c.7266T>G	c.(7264-7266)atT>atG	p.I2422M	UBR4_ENST00000375254.3_Missense_Mutation_p.I2422M|UBR4_ENST00000375217.2_Missense_Mutation_p.I2422M|UBR4_ENST00000375226.2_Missense_Mutation_p.I2422M			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	115	210	0	290	2422					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.I2422I(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		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)		TCTTGCCATAAATTTTTACAG	0.488000													1	1	1	1	1	1	1.000000	123	229	0	323	1	9.777516e-01	11	3	0	323	5
EIF4G3	8672	broad.mit.edu	37	1	21212755	21212755	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:21212755G>A	ENST00000602326.1	-	17	2796	c.2213C>T	c.(2212-2214)gCc>gTc	p.A738V	EIF4G3_ENST00000374937.3_Missense_Mutation_p.A738V|EIF4G3_ENST00000537738.1_Missense_Mutation_p.A222V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A732V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A336V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A452V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A732V	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	15	152	0	168	732	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			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		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)		TGGCTTCCAGGCATTTTCTGC	0.418000													1	1	1	1	0	1	0.999947	16	158	0	179	1	9.161872e-01	3	42	0	179	4
EPHA8	2046	broad.mit.edu	37	1	22919928	22919928	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:22919928C>A	ENST00000166244.3	+	6	1497	c.1425C>A	c.(1423-1425)atC>atA	p.I475I		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	12	5	0	24	475	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		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)		AGTATGAGATCAAGTACTACG	0.652000													1	1	1	1	1	1	0.999970	13	6	0	25	0	0	0	0	0	25	5
EPHB2	2048	broad.mit.edu	37	1	23219473	23219473	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:23219473C>T	ENST00000400191.3	+	7	1543	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W	EPHB2_ENST00000374630.3_Missense_Mutation_p.R509W|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.R504W|EPHB2_ENST00000374632.3_Missense_Mutation_p.R509W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	37	69	0	107	509	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		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)		CTTCCAGGTGCGGGCACGCAC	0.607000													1	1	1	1	1	1	1.000000	38	71	0	118	1	9.999999e-01	30	29	0	118	5
KDM1A	23028	broad.mit.edu	37	1	23408000	23408000	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:23408000C>T	ENST00000400181.4	+	19	2336	c.2232C>T	c.(2230-2232)gaC>gaT	p.D744D	KDM1A_ENST00000542151.1_Silent_p.D744D|KDM1A_ENST00000356634.3_Silent_p.D720D|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	31	43	0	52	720	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			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ACATAAGTGACGATGTGATTG	0.483000													1	1	1	1	1	1	1.000000	33	47	0	53	1	1	150	193	0	53	5
TCEA3	6920	broad.mit.edu	37	1	23743807	23743807	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:23743807A>T	ENST00000450454.2	-	4	421	c.315T>A	c.(313-315)tgT>tgA	p.C105*	TCEA3_ENST00000374601.3_Nonsense_Mutation_p.C105*|TCEA3_ENST00000461794.1_Nonsense_Mutation_p.C68*	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	8	70	0	81	105					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			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		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)		TCCAGTCTGAACACTCAAGcc	0.473000													1	1	1	1	0	1	0.997434	10	79	0	94	0	7.509341e-01	0	23	0	94	4
TCEB3	6924	broad.mit.edu	37	1	24077751	24077751	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:24077751A>C	ENST00000418390.2	+	4	1005	c.734A>C	c.(733-735)cAg>cCg	p.Q245P		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	50	90	0	137	245					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			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		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)		AATGCCTTTCAGGACAGACTC	0.542000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	54	96	0	149	1	9.999999e-01	26	24	0	149	5
MYOM3	127294	broad.mit.edu	37	1	24388592	24388592	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:24388592G>A	ENST00000330966.7	-	33	3949	c.3787C>T	c.(3787-3789)Cgt>Tgt	p.R1263C	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.R153C|MYOM3_ENST00000374434.3_Missense_Mutation_p.R1260C			Q5VTT5	MYOM3_HUMAN	myomesin 3	35	81	0	117	1260										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		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)		CTCTCCAGACGTTTGTCTCTG	0.512000													1	1	1	1	1	1	1.000000	37	84	0	122	1	9.350940e-01	3	10	0	122	5
TMEM57	55219	broad.mit.edu	37	1	25783143	25783143	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:25783143G>A	ENST00000374343.4	+	5	652		c.e5-1		TMEM57_ENST00000470035.1_Intron|TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000399766.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	11	35	0	36							axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		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)		CTTCTTTCTAGTATTGGGTAC	0.363000													1	1	1	1	1	1	0.999891	14	38	0	37	1	9.821811e-01	2	1	0	37	5
MAN1C1	57134	broad.mit.edu	37	1	26085155	26085155	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:26085155C>A	ENST00000374332.4	+	6	1332	c.1002C>A	c.(1000-1002)ttC>ttA	p.F334L	MAN1C1_ENST00000263979.3_Missense_Mutation_p.F154L|MAN1C1_ENST00000473891.1_3'UTR|MAN1C1_ENST00000374329.1_Missense_Mutation_p.F105L	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	25	58	0	96	334					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		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)		ACTTGGAATTCTTACACCTCA	0.587000													1	1	1	1	1	1	1.000000	26	62	0	106	0	3.492286e-01	0	4	0	106	5
UBXN11	91544	broad.mit.edu	37	1	26612003	26612003	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:26612003G>A	ENST00000314675.7	-	6	523	c.444C>T	c.(442-444)ttC>ttT	p.F148F	UBXN11_ENST00000535108.1_Silent_p.F110F|UBXN11_ENST00000357089.4_Silent_p.F235F|UBXN11_ENST00000374223.1_Silent_p.F25F|UBXN11_ENST00000436301.2_Silent_p.F193F|UBXN11_ENST00000374217.2_Silent_p.F235F|UBXN11_ENST00000374221.3_Silent_p.F268F|UBXN11_ENST00000374222.1_Silent_p.F268F	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	11	18	0	38	268						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTGAGGGAAAGAAGCCATCCA	0.587000											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999673	12	21	0	45	1	1	53	73	0	45	5
ARID1A	8289	broad.mit.edu	37	1	27099430	27099430	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27099430C>T	ENST00000324856.7	+	14	4038	c.3667C>T	c.(3667-3669)Cgc>Tgc	p.R1223C	ARID1A_ENST00000374152.2_Missense_Mutation_p.R840C|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1223C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	22	29	0	52	1223					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.M1220fs*9(1)|p.M1220fs*2(1)|p.R1223C(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		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)		CATGATGGGGCGCATGTCCTA	0.473000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC								1	1	1	1	1	1	1.000000	24	35	0	55	1	9.989753e-01	9	11	0	55	5
ARID1A	8289	broad.mit.edu	37	1	27100374	27100374	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27100374T>G	ENST00000324856.7	+	17	4457	c.4086T>G	c.(4084-4086)taT>taG	p.Y1362*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Y979*|ARID1A_ENST00000540690.1_De_novo_Start_OutOfFrame|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Y1362*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	76	128	0	227	1362	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		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		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)		CTACAATGTATCAACAGCAAC	0.488000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC								1	1	1	1	1	1	1.000000	82	132	0	248	1	9.997482e-01	8	16	0	248	5
MAP3K6	9064	broad.mit.edu	37	1	27683511	27683511	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27683511A>G	ENST00000493901.1	-	25	3592	c.3353T>C	c.(3352-3354)gTg>gCg	p.V1118A	MAP3K6_ENST00000357582.2_Missense_Mutation_p.V1118A|MAP3K6_ENST00000374040.3_Missense_Mutation_p.V1110A	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	14	29	0	72	1118					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		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)		CGGTCCTAGCACACCCAGGGC	0.662000													1	1	1	1	1	1	0.999905	14	32	0	78	1	9.999994e-01	31	51	0	78	5
FGR	2268	broad.mit.edu	37	1	27941062	27941062	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:27941062C>A	ENST00000374005.3	-	11	1416	c.1128G>T	c.(1126-1128)atG>atT	p.M376I	FGR_ENST00000399173.1_Missense_Mutation_p.M376I|FGR_ENST00000374004.1_Missense_Mutation_p.M376I|FGR_ENST00000545953.1_Missense_Mutation_p.M310I	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	11	17	0	25	376	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		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)		GAATGTAGTTCATGCGTTCCA	0.592000													1	1	1	1	1	1	0.999324	11	19	0	28	0	4.779412e-01	0	4	0	28	5
PPP1R8	5511	broad.mit.edu	37	1	28167551	28167551	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:28167551C>T	ENST00000311772.5	+	4	356	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	PPP1R8_ENST00000373931.4_5'UTR|PPP1R8_ENST00000236412.7_Intron	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	38	78	0	149	100	FHA.|Interaction with CDC5L, SF3B1 and MELK.				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			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		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)		GGGTCACATTCGGTTGGAACC	0.478000													1	1	1	1	1	1	1.000000	44	83	0	165	1	1	26	33	0	165	5
TRNAU1AP	54952	broad.mit.edu	37	1	28897731	28897731	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:28897731A>G	ENST00000373830.3	+	7	600	c.574A>G	c.(574-576)Agc>Ggc	p.S192G		NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	28	37	0	72	192	Tyr-rich.				selenocysteine incorporation	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						GTACAGTTATAGCTACAACCA	0.428000													1	1	1	1	1	1	1.000000	29	40	0	78	1	1	44	56	0	78	5
MECR	51102	broad.mit.edu	37	1	29533290	29533290	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:29533290G>A	ENST00000373791.3	-	4	678	c.306C>T	c.(304-306)ttC>ttT	p.F102F	MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Silent_p.F178F	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	24	52	0	70	178					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		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)		GCAGTTGCTCGAAGTCCATCA	0.592000													1	1	1	1	1	1	1.000000	25	56	0	78	1	9.999998e-01	39	30	0	78	5
MATN1	4146	broad.mit.edu	37	1	31194488	31194488	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:31194488C>T	ENST00000373765.4	-	2	240	c.205G>A	c.(205-207)Gag>Aag	p.E69K	MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	47	102	0	130	69	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGCGACTCGATGACCTGG	0.602000													1	1	1	1	1	1	1.000000	52	107	0	141	0	0	0	1	0	141	5
LAPTM5	7805	broad.mit.edu	37	1	31212746	31212746	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:31212746T>C	ENST00000294507.3	-	4	371	c.297A>G	c.(295-297)caA>caG	p.Q99Q		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	19	36	0	51	99					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		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)		AGTCCATGATTTGCAGGGACA	0.612000													1	1	1	1	1	1	1.000000	23	43	0	55	0	1	0	115	0	55	5
ZCCHC17	51538	broad.mit.edu	37	1	31810034	31810034	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:31810034G>A	ENST00000373714.1	+	4	398	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	ZCCHC17_ENST00000546109.1_Missense_Mutation_p.R38Q|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.R46Q|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.R22Q|ZCCHC17_ENST00000479629.1_3'UTR|RP11-266K22.2_ENST00000430143.1_RNA			Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	33	51	0	106	46	S1 motif.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		CTGGTCCATCGAACTCATATG	0.438000													1	1	1	1	0	1	1.000000	34	55	0	119	1	1	36	36	0	119	4
TMEM39B	55116	broad.mit.edu	37	1	32566248	32566248	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:32566248G>T	ENST00000427288.1	+	9	1456	c.976G>T	c.(976-978)Gaa>Taa	p.E326*	TMEM39B_ENST00000336294.5_Intron|TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000487305.1_Intron			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	9	15	0	18	0						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CATTGCAAGAGAAAGCTATTT	0.512000													1	0	1	1	1	1	0.997155	9	15	0	18	1	9.999999e-01	107	2	0	18	4
ZBTB8A	653121	broad.mit.edu	37	1	33060820	33060820	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:33060820G>A	ENST00000373510.4	+	4	1218	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.R330Q	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	56	33	0	75	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						AGCCATTTTCGAACAGTATGT	0.383000													1	1	1	1	1	1	1.000000	60	34	0	82	1	9.994190e-01	11	0	0	82	5
KIAA1522	57648	broad.mit.edu	37	1	33237828	33237828	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:33237828G>T	ENST00000401073.2	+	6	3118	c.3048G>T	c.(3046-3048)aaG>aaT	p.K1016N	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.K957N|KIAA1522_ENST00000373481.3_Missense_Mutation_p.K968N	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	28	53	0	59	957										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGGCCCCAAAGAAGTCACCTA	0.672000													1	1	1	1	1	1	1.000000	28	55	0	61	1	1	119	114	0	61	5
PHC2	1912	broad.mit.edu	37	1	33796962	33796962	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:33796962C>T	ENST00000257118.5	-	11	2043	c.1990G>A	c.(1990-1992)Gct>Act	p.A664T	PHC2_ENST00000373418.3_Missense_Mutation_p.A129T|PHC2_ENST00000419414.2_Missense_Mutation_p.A665T|PHC2_ENST00000431992.1_Missense_Mutation_p.A635T|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_Missense_Mutation_p.A270T|PHC2_ENST00000373416.1_Missense_Mutation_p.A129T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	33	85	0	123	664					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTTGCACAAGCCATGGAACAG	0.547000													1	1	1	1	1	1	1.000000	37	91	0	138	1	1	116	153	0	138	5
CSMD2	114784	broad.mit.edu	37	1	34006219	34006219	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:34006219A>C	ENST00000373381.4	-	60	9713	c.9537T>G	c.(9535-9537)acT>acG	p.T3179T		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	38	65	0	106	3155	Sushi 25.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCAGGCATAAGTCACACTTG	0.597000													1	1	1	1	1	1	1.000000	39	70	0	114	0	0	0	1	0	114	5
CSMD2	114784	broad.mit.edu	37	1	34166245	34166245	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:34166245C>T	ENST00000373381.4	-	23	3781	c.3605G>A	c.(3604-3606)cGt>cAt	p.R1202H	CSMD2_ENST00000373380.1_Missense_Mutation_p.R75H|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	26	51	0	97	1162	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCAGCAAACGGGCGGAGTT	0.498000													1	1	1	1	1	1	1.000000	29	59	0	105	0	0	0	1	0	105	5
GJA4	2701	broad.mit.edu	37	1	35259970	35259970	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35259970C>T	ENST00000342280.4	+	2	244	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	48	91	0	160	52					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATCAGATTTCGAGTGTAACA	0.597000													1	0	1	1	1	1	1.000000	53	110	0	176	0	9.518631e-01	0	13	0	176	4
ZMYM6	9204	broad.mit.edu	37	1	35476172	35476172	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35476172C>A	ENST00000357182.4	-	10	1595	c.1368G>T	c.(1366-1368)aaG>aaT	p.K456N	ZMYM6_ENST00000373340.2_Missense_Mutation_p.K456N|ZMYM6_ENST00000487874.1_Missense_Mutation_p.K456N|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	25	59	0	67	456					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CAGAGCAATTCTTGCCACAAA	0.368000													1	1	1	1	1	1	1.000000	26	62	0	76	1	9.009912e-01	5	7	0	76	5
ZMYM4	9202	broad.mit.edu	37	1	35836059	35836059	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35836059C>T	ENST00000314607.6	+	7	1092	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	ZMYM4_ENST00000482131.1_3'UTR|ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.R338*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	18	32	0	55	338					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CACAGCTGTTCGAGTTTCCTG	0.458000													1	1	1	1	1	1	0.999999	20	33	0	59	1	9.255244e-01	2	8	0	59	5
KIAA0319L	79932	broad.mit.edu	37	1	35972481	35972481	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:35972481T>G	ENST00000325722.3	-	3	632	c.398A>C	c.(397-399)aAa>aCa	p.K133T		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	34	54	0	90	133						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTTTGGAATTTTTTTAAAAA	0.512000													1	1	1	1	1	1	1.000000	37	58	0	100	1	9.996366e-01	13	9	0	100	5
CLSPN	63967	broad.mit.edu	37	1	36214035	36214035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:36214035G>A	ENST00000251195.5	-	13	2539	c.2443C>T	c.(2443-2445)Cga>Tga	p.R815*	CLSPN_ENST00000520551.1_Nonsense_Mutation_p.R762*|CLSPN_ENST00000318121.3_Nonsense_Mutation_p.R815*|CLSPN_ENST00000373220.3_Nonsense_Mutation_p.R751*			Q9HAW4	CLSPN_HUMAN	claspin	54	92	0	135	815					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			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAACTGGCTCGAAATAGCCCA	0.468000													1	1	1	1	1	1	1.000000	58	99	0	145	0	9.644078e-01	1	11	0	145	5
GRIK3	2899	broad.mit.edu	37	1	37325529	37325529	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:37325529G>A	ENST00000373091.3	-	6	892	c.876C>T	c.(874-876)gtC>gtT	p.V292V	GRIK3_ENST00000373093.4_Silent_p.V292V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	36	65	0	89	292					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			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CAATGGCCGAGACGTGTGGGT	0.587000													1	1	1	1	1	1	1.000000	38	68	0	97	0	0	0	0	0	97	5
DNALI1	7802	broad.mit.edu	37	1	38025037	38025037	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38025037C>T	ENST00000296218.7	+	3	413	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	DNALI1_ENST00000541606.1_Intron	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	21	35	0	69	113					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGCAGCAGCGGCAGGCCAG	0.592000													1	1	1	1	1	1	1.000000	22	38	0	71	1	1	92	174	0	71	5
GNL2	29889	broad.mit.edu	37	1	38034732	38034732	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38034732G>A	ENST00000373062.3	-	13	1686	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	33	45	0	78	530					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding	p.R530W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AAGTTCTGCCGAACTCGTGTG	0.468000													1	1	1	1	1	1	1.000000	34	51	0	88	1	1	15	89	0	88	5
YRDC	79693	broad.mit.edu	37	1	38272619	38272619	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38272619A>C	ENST00000373044.2	-	3	538	c.534T>G	c.(532-534)gcT>gcG	p.A178A		NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	30	51	0	71	178	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTGCATAAAAGCATGATCAG	0.488000													1	1	1	1	1	1	1.000000	31	53	0	75	1	9.999547e-01	18	15	0	75	5
MTF1	4520	broad.mit.edu	37	1	38304324	38304324	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:38304324C>T	ENST00000373036.4	-	4	892	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	19	46	0	50	251						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding	p.R251Q(1)		endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTATGAGTTCGAATGTGCTT	0.438000													1	1	1	1	1	1	0.999999	20	51	0	57	1	5.464136e-01	2	4	0	57	5
GJA9	81025	broad.mit.edu	37	1	39340703	39340703	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39340703T>C	ENST00000454994.2	-	2	1344	c.1068A>G	c.(1066-1068)aaA>aaG	p.K356K	MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000360786.3_Silent_p.K356K|GJA9_ENST00000357771.3_Silent_p.K356K|RP5-864K19.4_ENST00000456813.1_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	11	33	0	45	356					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TTCCAAATATTTTATGAGTGT	0.338000													1	1	1	1	1	1	0.999034	11	34	0	45	0	1.679331e-01	1	1	0	45	5
RHBDL2	54933	broad.mit.edu	37	1	39358897	39358897	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39358897C>A	ENST00000289248.2	-	6	1618		c.e6-1		RHBDL2_ENST00000538156.1_Splice_Site|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Splice_Site|RHBDL2_ENST00000372990.1_Splice_Site			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	7	21	0	11						proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CTTGAAAATTCTTAAAAAGAG	0.323000													0	1	1	0	1	1	0.985354	7	22	0	12	0	0	0	0	0	12	3
MACF1	23499	broad.mit.edu	37	1	39798397	39798397	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39798397C>A	ENST00000564288.1	+	37	6914	c.6137C>A	c.(6136-6138)tCt>tAt	p.S2046Y	MACF1_ENST00000372915.3_Missense_Mutation_p.S2051Y|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S486Y|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S2083Y|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	18	59	0	56	2051					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			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	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)			CAGTTTTCTTCTCAGAACAAA	0.433000													1	1	1	1	1	1	0.999992	18	65	0	58	1	1.308552e-01	3	0	0	58	5
MACF1	23499	broad.mit.edu	37	1	39800329	39800329	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39800329C>G	ENST00000564288.1	+	37	8846	c.8069C>G	c.(8068-8070)aCt>aGt	p.T2690S	MACF1_ENST00000372915.3_Missense_Mutation_p.T2695S|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.T1130S|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.T2727S|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	18	24	0	27	2695					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			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	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)			CAGGCAAATACTGGTGGAATC	0.428000													1	1	1	1	1	1	1.000000	20	25	0	29	0	0	0	0	0	29	5
MACF1	23499	broad.mit.edu	37	1	39801373	39801373	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39801373C>A	ENST00000564288.1	+	37	9890	c.9113C>A	c.(9112-9114)aCt>aAt	p.T3038N	MACF1_ENST00000372915.3_Missense_Mutation_p.T3043N|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.T1478N|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.T3075N|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	18	36	0	39	3043					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			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	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)			TTTTCTATTACTTTTAAAATT	0.373000													1	1	1	1	1	1	0.999995	18	38	0	40	1	2.554062e-01	3	0	0	40	5
KIAA0754	643314	broad.mit.edu	37	1	39878370	39878370	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:39878370G>T	ENST00000530275.1	+	1	2220	c.2025G>T	c.(2023-2025)gaG>gaT	p.E675D	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	6	38	0	27	675										central_nervous_system(1)|large_intestine(6)|skin(1)	8	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)			TTTTTCCAGAGAAACAAGTTA	0.453000													1	0	1	1	1	1	0.968589	6	39	0	29	0	4.395051e-01	1	5	0	29	4
NT5C1A	84618	broad.mit.edu	37	1	40131262	40131262	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40131262C>T	ENST00000235628.1	-	3	363	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	12	27	0	58	122					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			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	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)			AGGACGATGTCGAAGACGTCC	0.577000													1	1	1	1	1	1	0.999916	14	28	0	61	0	0	0	0	0	61	5
PPIE	10450	broad.mit.edu	37	1	40207070	40207070	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40207070G>T	ENST00000324379.5	+	3	182	c.163G>T	c.(163-165)Gag>Tag	p.E55*	PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000470213.1_Nonsense_Mutation_p.E55*|PPIE_ENST00000372830.1_Nonsense_Mutation_p.E55*|PPIE_ENST00000356511.2_Nonsense_Mutation_p.E55*	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	23	36	0	58	55	RRM.				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			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	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)			TGTTGAATTTGAGTTGGCAGA	0.383000													1	1	1	1	1	1	1.000000	28	40	0	71	1	1	17	62	0	71	5
TRIT1	54802	broad.mit.edu	37	1	40319675	40319675	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40319675T>G	ENST00000316891.5	-	3	395	c.381A>C	c.(379-381)gaA>gaC	p.E127D	TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.E127D|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E127D|TRIT1_ENST00000441669.2_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	18	40	0	38	127					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	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)			AGAGCAGAGATTCAATGTAAT	0.363000													1	1	1	1	1	1	0.999997	19	45	0	46	1	9.976897e-01	10	13	0	46	5
RLF	6018	broad.mit.edu	37	1	40701803	40701803	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40701803C>T	ENST00000372771.4	+	8	1456	c.1429C>T	c.(1429-1431)Cga>Tga	p.R477*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	33	52	0	72	477					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			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	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)			AACTTTAAAACGACACTGCCA	0.398000													1	1	1	1	1	1	1.000000	35	52	0	74	1	9.975351e-01	13	5	0	74	5
RLF	6018	broad.mit.edu	37	1	40705776	40705776	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40705776C>A	ENST00000372771.4	+	8	5429	c.5402C>A	c.(5401-5403)tCt>tAt	p.S1801Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	39	48	0	77	1801					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			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	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)			TTAAGTAATTCTTCACAGTCC	0.358000													1	1	1	1	1	1	1.000000	42	53	0	82	1	1	100	28	0	82	5
TMCO2	127391	broad.mit.edu	37	1	40717052	40717052	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40717052G>A	ENST00000372766.3	+	2	428	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	TMCO2_ENST00000468258.1_3'UTR	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	28	44	0	51	112						integral to membrane		p.R112Q(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	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)			AGTGGTCTCCGAATTCAAGAC	0.368000													1	1	1	1	1	1	1.000000	29	47	0	55	0	0	0	0	0	55	5
COL9A2	1298	broad.mit.edu	37	1	40775941	40775941	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:40775941C>T	ENST00000372748.3	-	14	829	c.733G>A	c.(733-735)Gag>Aag	p.E245K		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	5	69	0	74	245	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	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)			CTTACCGTCTCTCCCTTGGGC	0.562000													0	1	1	0	0	1	0.939630	5	74	0	83	1	7.445395e-01	7	33	0	83	2
SCMH1	22955	broad.mit.edu	37	1	41541092	41541092	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:41541092G>A	ENST00000402904.2	-	9	1115	c.747C>T	c.(745-747)tcC>tcT	p.S249S	SCMH1_ENST00000361191.5_Silent_p.S188S|SCMH1_ENST00000337495.5_Silent_p.S259S|SCMH1_ENST00000361705.3_Silent_p.S202S|SCMH1_ENST00000372597.1_Silent_p.S202S|SCMH1_ENST00000372596.1_Silent_p.S188S|SCMH1_ENST00000456518.2_Silent_p.S91S|SCMH1_ENST00000397174.2_Silent_p.S229S|SCMH1_ENST00000372595.1_Silent_p.S188S|SCMH1_ENST00000326197.7_Silent_p.S249S|SCMH1_ENST00000397171.2_Silent_p.S188S	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	32	49	0	67	249					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TATTCACATCGGAGGCAGGAT	0.512000													1	1	1	1	1	1	1.000000	34	54	0	74	1	9.965190e-01	10	8	0	74	5
FOXJ3	22887	broad.mit.edu	37	1	42744276	42744276	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:42744276C>T	ENST00000372572.1	-	5	423	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	FOXJ3_ENST00000361346.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000545068.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000372573.1_Missense_Mutation_p.A38T|FOXJ3_ENST00000361776.1_Missense_Mutation_p.A38T	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	8	115	0	113	38					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			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTTTGGATGGCTGCTCTCATG	0.433000													1	1	1	1	0	1	0.994733	9	125	0	123	0	1.168851e-01	1	7	0	123	4
RIMKLA	284716	broad.mit.edu	37	1	42875737	42875737	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:42875737C>T	ENST00000431473.3	+	4	693	c.564C>T	c.(562-564)ttC>ttT	p.F188F		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	7	119	0	138	188	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTACCTGTTCCAGAAGTACG	0.512000													1	0	1	1	0	1	0.981490	7	131	0	149	0	6.055694e-02	0	7	0	149	3
CCDC30	728621	broad.mit.edu	37	1	43031966	43031966	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:43031966G>T	ENST00000428554.2	+	13	1818		c.e13-1		CCDC30_ENST00000507855.1_Splice_Site|CCDC30_ENST00000390640.4_Splice_Site|CCDC30_ENST00000342022.4_Splice_Site|CCDC30_ENST00000340612.4_Splice_Site			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	9	10	0	26											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GTTTGCTTTAGCATCCATCAT	0.383000													1	1	1	1	1	1	0.999070	10	10	0	26	1	5.000000e-01	2	0	0	26	5
CCDC30	728621	broad.mit.edu	37	1	43076678	43076678	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:43076678G>T	ENST00000428554.2	+	17	2556	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D	CCDC30_ENST00000507855.1_Missense_Mutation_p.E260D|CCDC30_ENST00000390640.4_Missense_Mutation_p.E260D|CCDC30_ENST00000342022.4_Missense_Mutation_p.E471D|CCDC30_ENST00000340612.4_Missense_Mutation_p.E471D			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	15	44	0	48	471										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AATTGTCAGAGAAGCTATCTA	0.368000													1	1	1	1	1	1	0.999941	15	47	0	59	0	1.604895e-01	1	2	0	59	5
PPIH	10465	broad.mit.edu	37	1	43124947	43124947	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:43124947C>A	ENST00000372549.1	+	2	238	c.102C>A	c.(100-102)ttC>ttA	p.F34L	PPIH_ENST00000372550.1_5'UTR|PPIH_ENST00000304979.3_Intron|PPIH_ENST00000455203.2_5'UTR			O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	47	94	0	135	0	PPIase cyclophilin-type.				protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	TGTTTGACTTCTTTGCCTGCT	0.478000													1	0	1	1	1	1	1.000000	52	105	0	154	0	0	1	0	0	154	4
CLDN19	149461	broad.mit.edu	37	1	43205521	43205521	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:43205521C>T	ENST00000539749.1	-	1	404	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	CLDN19_ENST00000372539.3_Missense_Mutation_p.A72T|CLDN19_ENST00000296387.1_Missense_Mutation_p.A72T	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN	claudin 19	8	16	0	26	72					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCGTCCAGGGCGAGCAGCGAG	0.637000													1	1	1	1	1	1	0.996859	9	18	0	29	0	0	1	0	0	29	5
SLC6A9	6536	broad.mit.edu	37	1	44474151	44474151	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:44474151T>C	ENST00000372310.3	-	5	629	c.464A>G	c.(463-465)gAc>gGc	p.D155G	SLC6A9_ENST00000372307.3_Missense_Mutation_p.D90G|SLC6A9_ENST00000372306.3_Missense_Mutation_p.D155G|SLC6A9_ENST00000475075.2_Missense_Mutation_p.D44G|SLC6A9_ENST00000360584.2_Missense_Mutation_p.D228G|SLC6A9_ENST00000537678.1_Missense_Mutation_p.D90G|SLC6A9_ENST00000357730.2_Missense_Mutation_p.D174G	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	38	67	0	124	228						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ACCGGCGCAGTCATGCGTGTT	0.592000													1	1	1	1	1	1	1.000000	46	76	0	144	1	9.982114e-01	10	10	0	144	5
UROD	7389	broad.mit.edu	37	1	45481017	45481017	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:45481017C>T	ENST00000246337.4	+	10	1070	c.951C>T	c.(949-951)atC>atT	p.I317I	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	16	23	0	30	317						cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					AGGAGGAGATCGGGCAGTTGG	0.532000									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999993	17	26	0	31	1	1	104	129	0	31	5
TESK2	10420	broad.mit.edu	37	1	45811195	45811195	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:45811195T>G	ENST00000372086.3	-	11	1433	c.1033A>C	c.(1033-1035)Agc>Cgc	p.S345R	TESK2_ENST00000341771.6_Missense_Mutation_p.S316R|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.S316R|TESK2_ENST00000538496.1_Missense_Mutation_p.S262R	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	22	30	0	51	345					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TCCAGTGAGCTTAGTCGCTTC	0.488000													1	1	1	1	1	1	1.000000	23	32	0	53	0	1.814882e-01	0	2	0	53	5
TESK2	10420	broad.mit.edu	37	1	45812447	45812447	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:45812447A>G	ENST00000372086.3	-	9	1197	c.797T>C	c.(796-798)tTc>tCc	p.F266S	TESK2_ENST00000341771.6_Intron|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Intron|TESK2_ENST00000538496.1_Missense_Mutation_p.F183S	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	12	18	0	37	266	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GTCCAGCCCGAAATTCTGTGG	0.502000													1	1	1	1	1	1	0.999876	13	18	0	39	1	9.241925e-01	4	5	0	39	5
CCDC163P	0	broad.mit.edu	37	1	45965208	45965208	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:45965208T>G	ENST00000490551.3	-	1	438	c.74A>C	c.(73-75)aAt>aCt	p.N25T	CCDC163P_ENST00000488405.2_Missense_Mutation_p.N25T|CCDC163P_ENST00000432082.1_Missense_Mutation_p.N25T						7	19	0	17											cervix(1)|endometrium(1)	2						CCTCACCTTATTCCGGACCAC	0.547000													1	1	1	1	1	1	0.985917	7	19	0	17	0	2.068966e-01	1	2	0	17	5
MAST2	23139	broad.mit.edu	37	1	46290212	46290212	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:46290212T>G	ENST00000361297.2	+	2	568	c.285T>G	c.(283-285)gaT>gaG	p.D95E	MAST2_ENST00000372009.2_Missense_Mutation_p.D95E	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	45	89	0	130	95					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GTCAGGATGATTGTAAGTTAT	0.398000													1	1	1	1	1	1	1.000000	50	105	0	149	1	8.371542e-01	6	3	0	149	5
CYP4B1	1580	broad.mit.edu	37	1	47279612	47279612	+	Missense_Mutation	SNP	G	G	A	rs139750942		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:47279612G>A	ENST00000271153.4	+	6	685	c.649G>A	c.(649-651)Gat>Aat	p.D217N	CYP4B1_ENST00000452782.2_Missense_Mutation_p.D55N|CYP4B1_ENST00000371919.4_Missense_Mutation_p.D203N|CYP4B1_ENST00000371923.4_Missense_Mutation_p.D218N			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	58	102	0	173	217					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGCAGTCAGCGATCTCACTCT	0.567000													1	1	1	1	1	1	1.000000	60	106	0	182	0	0	0	0	0	182	5
CYP4Z1	199974	broad.mit.edu	37	1	47534420	47534420	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:47534420C>A	ENST00000334194.3	+	2	307	c.304C>A	c.(304-306)Ctc>Atc	p.L102I		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	24	63	0	77	102						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGCCAAGATTCTCCTGAAAAG	0.478000													1	1	1	1	1	1	1.000000	25	64	0	83	0	0	0	0	0	83	5
BEND5	79656	broad.mit.edu	37	1	49208353	49208353	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:49208353G>A	ENST00000371833.3	-	4	922	c.836C>T	c.(835-837)tCg>tTg	p.S279L	BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	35	51	0	103	279										large_intestine(5)|lung(2)|skin(1)	8						GTAATAGGACGACGTATTTGC	0.483000													1	1	1	1	1	1	1.000000	36	55	0	114	1	9.998439e-01	3	17	0	114	5
RNF11	26994	broad.mit.edu	37	1	51735705	51735705	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:51735705A>C	ENST00000242719.3	+	2	687	c.201A>C	c.(199-201)caA>caC	p.Q67H	RNF11_ENST00000494873.1_Intron	NM_014372.4	NP_055187.1	Q9Y3C5	RNF11_HUMAN	ring finger protein 11	30	40	0	53	67					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	p.0?(2)		large_intestine(1)	1						AAGAGGAACAAATTAGGATAG	0.408000													1	0	1	1	1	1	1.000000	32	42	0	59	1	1	32	42	0	59	4
ZFYVE9	9372	broad.mit.edu	37	1	52704252	52704252	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52704252A>C	ENST00000287727.3	+	4	1335	c.1163A>C	c.(1162-1164)aAt>aCt	p.N388T	ZFYVE9_ENST00000361625.1_Missense_Mutation_p.N388T|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.N388T|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.N388T	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	31	51	0	79	388					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			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GAATTCCTTAATATGACAGAG	0.373000													1	1	1	1	1	1	1.000000	31	52	0	87	1	6.159650e-01	2	3	0	87	5
ZFYVE9	9372	broad.mit.edu	37	1	52704608	52704608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52704608G>T	ENST00000287727.3	+	4	1691	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	ZFYVE9_ENST00000361625.1_Nonsense_Mutation_p.E507*|ZFYVE9_ENST00000371591.1_Nonsense_Mutation_p.E507*|ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.E507*	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	12	47	0	48	507					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			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AGAAGAAAAAGAAATAGAGGA	0.388000													1	1	1	1	1	1	0.999731	13	49	0	50	0	2.142978e-01	1	3	0	50	5
ZCCHC11	23318	broad.mit.edu	37	1	52981573	52981573	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52981573C>T	ENST00000371544.3	-	3	1134	c.872G>A	c.(871-873)cGa>cAa	p.R291Q	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.R291Q|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R291Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	24	43	0	57	291					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTTTTCAAGTCGAAAGATGTG	0.363000													1	1	1	1	1	1	1.000000	27	49	0	65	0	9.343281e-01	0	11	0	65	5
ZCCHC11	23318	broad.mit.edu	37	1	52981592	52981592	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52981592C>A	ENST00000371544.3	-	3	1115	c.853G>T	c.(853-855)Gaa>Taa	p.E285*	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000355809.4_Nonsense_Mutation_p.E285*|ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.E285*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	25	45	0	58	285					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TGATCTCTTTCTAAGCGTTCT	0.393000													1	1	1	1	1	1	1.000000	28	49	0	65	0	7.030555e-01	0	6	0	65	5
ZCCHC11	23318	broad.mit.edu	37	1	52991830	52991830	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:52991830G>A	ENST00000371544.3	-	2	385	c.123C>T	c.(121-123)tcC>tcT	p.S41S	ZCCHC11_ENST00000355809.4_Silent_p.S41S|ZCCHC11_ENST00000257177.4_Silent_p.S41S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	9	27	0	25	41					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTTCTTTTACGGATTTATCAT	0.274000													1	1	1	1	1	1	0.998101	10	30	0	26	0	2.859358e-01	0	4	0	26	5
ZYG11B	79699	broad.mit.edu	37	1	53237447	53237447	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:53237447G>A	ENST00000294353.6	+	3	1096		c.e3+1		ZYG11B_ENST00000545132.1_Splice_Site|ZYG11B_ENST00000443756.2_Splice_Site	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	8	71	0	75								protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						ACATTTGAAGGTTAGACTTTA	0.363000													1	0	1	1	0	1	0.995054	9	77	0	84	0	7.009096e-02	1	3	0	84	3
GLIS1	148979	broad.mit.edu	37	1	54060081	54060081	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:54060081C>T	ENST00000312233.2	-	3	1061	c.495G>A	c.(493-495)ccG>ccA	p.P165P		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	7	27	0	22	165					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			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GATAGGGGGGCGGCAGGCCCT	0.682000													1	1	1	1	1	1	0.984634	7	27	0	22	0	0	0	0	0	22	5
SSBP3	23648	broad.mit.edu	37	1	54717490	54717490	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:54717490G>T	ENST00000371320.3	-	8	961	c.551C>A	c.(550-552)tCt>tAt	p.S184Y	SSBP3_ENST00000326956.7_5'UTR|SSBP3_ENST00000417664.2_Missense_Mutation_p.S74Y|SSBP3_ENST00000371319.3_Missense_Mutation_p.S157Y|SSBP3_ENST00000357475.4_Missense_Mutation_p.S164Y	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	7	25	0	22	184	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						GGGATCCATAGAATTGGGCAG	0.622000													1	1	1	1	1	1	0.984515	7	28	0	24	1	9.968076e-01	24	27	0	24	5
MROH7	374977	broad.mit.edu	37	1	55118690	55118690	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55118690T>C	ENST00000414150.2	+	3	369	c.91T>C	c.(91-93)Tct>Cct	p.S31P	MROH7_ENST00000545244.1_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.S31P|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000421030.2_Missense_Mutation_p.S31P|MROH7_ENST00000339553.5_Missense_Mutation_p.S31P|MROH7_ENST00000454855.2_Intron					maestro heat-like repeat family member 7	24	46	0	91																		GGGATTAGGGTCTGGTACCAT	0.572000													1	1	1	1	1	1	1.000000	26	47	0	93	0	0	0	0	0	93	5
MROH7	374977	broad.mit.edu	37	1	55119575	55119575	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55119575T>C	ENST00000414150.2	+	3	1254	c.976T>C	c.(976-978)Tgc>Cgc	p.C326R	MROH7_ENST00000545244.1_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.C326R|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000421030.2_Missense_Mutation_p.C326R|MROH7_ENST00000339553.5_Missense_Mutation_p.C326R|MROH7_ENST00000454855.2_Intron					maestro heat-like repeat family member 7	54	101	0	144																		TCCACCCTCATGCATGACTCT	0.562000													1	1	1	1	1	1	1.000000	57	104	0	162	0	0	0	0	0	162	5
PCSK9	255738	broad.mit.edu	37	1	55523792	55523792	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55523792G>T	ENST00000302118.5	+	8	1554	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.D222Y	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	22	59	0	120	422	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			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CTCTGCCAAAGATGTCATCAA	0.622000													1	1	1	1	1	1	1.000000	25	64	0	125	1	9.824312e-01	8	12	0	125	5
USP24	23358	broad.mit.edu	37	1	55567320	55567320	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55567320A>G	ENST00000294383.6	-	43	5081	c.5082T>C	c.(5080-5082)ggT>ggC	p.G1694G	USP24_ENST00000407756.1_Silent_p.G1534G	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	4	19	0	25	1694					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAGTTGCACCACCATTTCTCA	0.458000													0	0	1	1	1	1	0.895470	4	23	0	32	1	2.814208e-01	2	4	0	32	3
USP24	23358	broad.mit.edu	37	1	55613398	55613398	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55613398C>T	ENST00000294383.6	-	18	2041	c.2042G>A	c.(2041-2043)cGg>cAg	p.R681Q	USP24_ENST00000407756.1_Missense_Mutation_p.R521Q	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	7	15	0	27	681					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGCTGCAAGCCGATGACAAGC	0.458000													1	1	1	1	1	1	0.997155	9	15	0	27	0	0	0	0	0	27	5
USP24	23358	broad.mit.edu	37	1	55624553	55624553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:55624553C>A	ENST00000294383.6	-	10	1224	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*	USP24_ENST00000407756.1_Nonsense_Mutation_p.E297*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	5	11	0	18	409					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AAACTTACTTCTTTGAGAGAA	0.348000													1	0	1	1	1	1	0.948337	5	12	0	18	0	1.105263e-01	1	1	0	18	4
C8B	732	broad.mit.edu	37	1	57415369	57415369	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:57415369T>C	ENST00000543257.1	-	7	1133	c.567A>G	c.(565-567)gaA>gaG	p.E189E	C8B_ENST00000535057.1_Silent_p.E179E|C8B_ENST00000371237.4_Silent_p.E241E	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	10	20	0	29	241	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGACATTGCGTTCAAAATCTG	0.333000													1	1	1	1	1	1	0.999250	11	22	0	30	0	0	0	0	0	30	5
C8B	732	broad.mit.edu	37	1	57425735	57425735	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:57425735A>G	ENST00000543257.1	-	3	617	c.51T>C	c.(49-51)agT>agC	p.S17S	C8B_ENST00000494324.1_Intron|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000371237.4_Silent_p.S69S	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	17	46	0	43	69					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.S69R(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AAGAGGACCAACTAGACAGCT	0.507000													1	1	1	1	1	1	0.999994	18	47	0	47	0	0	0	0	0	47	5
DAB1	1600	broad.mit.edu	37	1	57536663	57536663	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:57536663G>T	ENST00000371230.1	-	7	893	c.630C>A	c.(628-630)ttC>ttA	p.F210L	DAB1_ENST00000371231.1_Intron|DAB1_ENST00000371234.4_Intron|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371236.2_Intron|DAB1_ENST00000485760.1_Intron|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000414851.2_Intron			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	24	61	0	98	0					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AGTCACTCTTGAATCTAAAAC	0.443000													1	0	0	1	0	1	1.000000	26	66	0	111	0	0	0	0	0	111	2
MYSM1	114803	broad.mit.edu	37	1	59147640	59147640	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:59147640G>T	ENST00000472487.1	-	8	1115	c.1076C>A	c.(1075-1077)tCt>tAt	p.S359Y	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	20	32	0	66	359					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			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CATTTGGCAAGAATGAAAAAG	0.368000													1	1	1	1	1	1	1.000000	21	34	0	70	1	1.530551e-01	2	0	0	70	5
MYSM1	114803	broad.mit.edu	37	1	59160818	59160818	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:59160818T>C	ENST00000472487.1	-	2	169	c.130A>G	c.(130-132)Aca>Gca	p.T44A		NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	8	9	0	22	44					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			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CCATTCTCTGTTCTCCAAGAT	0.274000													1	1	1	1	1	1	0.997967	9	9	0	26	0	6.708075e-01	1	3	0	26	5
INADL	10207	broad.mit.edu	37	1	62350017	62350017	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62350017G>A	ENST00000371158.2	+	22	3182	c.3068G>A	c.(3067-3069)cGa>cAa	p.R1023Q	INADL_ENST00000316485.6_Missense_Mutation_p.R1023Q	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	33	69	0	110	1023					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAAGCGACACGAGTTATTTCC	0.413000													1	1	1	1	1	1	1.000000	35	75	0	125	1	9.981876e-01	9	16	0	125	5
L1TD1	54596	broad.mit.edu	37	1	62676247	62676247	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62676247G>T	ENST00000498273.1	+	4	2096	c.1801G>T	c.(1801-1803)Gaa>Taa	p.E601*		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	11	21	0	20	601										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GCACACAGAAGAACTAACATC	0.348000													1	1	1	1	1	1	0.999660	12	22	0	20	0	0	0	0	0	20	5
KANK4	163782	broad.mit.edu	37	1	62703978	62703978	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62703978C>A	ENST00000371153.4	-	10	3337	c.2959G>T	c.(2959-2961)Gcg>Tcg	p.A987S	KANK4_ENST00000371150.1_Missense_Mutation_p.A343S|KANK4_ENST00000354381.3_Missense_Mutation_p.A359S|KANK4_ENST00000317477.4_Missense_Mutation_p.A125S	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	21	31	0	43	987			A -> V (in dbSNP:rs34591898).							NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCCTGCTCCGCGTGGGCTCTC	0.577000													1	1	1	1	1	1	1.000000	23	37	0	46	1	9.315212e-01	4	6	0	46	5
KANK4	163782	broad.mit.edu	37	1	62739628	62739628	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:62739628C>A	ENST00000371153.4	-	3	1526	c.1148G>T	c.(1147-1149)aGa>aTa	p.R383I	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	38	80	0	118	383										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTCTCGAATTCTTTGCTCCCT	0.537000													1	1	1	1	1	1	1.000000	40	83	0	128	0	5.260860e-01	0	5	0	128	5
DOCK7	85440	broad.mit.edu	37	1	63128788	63128788	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:63128788C>T	ENST00000251157.5	-	2	85	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	DOCK7_ENST00000340370.5_Missense_Mutation_p.E18K|DOCK7_ENST00000404627.2_Missense_Mutation_p.E18K	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	28	64	0	99	18					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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTCCTAACTTCGGCTGCCACC	0.358000													1	1	1	1	1	1	1.000000	30	73	0	109	0	4.545644e-01	1	4	0	109	5
ALG6	29929	broad.mit.edu	37	1	63894714	63894714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:63894714G>T	ENST00000371108.4	+	14	1548	c.1243G>T	c.(1243-1245)Gaa>Taa	p.E415*	ALG6_ENST00000263440.4_Nonsense_Mutation_p.E417*|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	8	8	0	11	415					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			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTCTGAAGAAGAACTGCAGTT	0.313000													0	1	1	1	1	1	0.995259	8	9	0	11	1	9.999966e-01	18	39	0	11	4
ITGB3BP	23421	broad.mit.edu	37	1	63955791	63955791	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:63955791A>G	ENST00000371092.3	-	4	324	c.264T>C	c.(262-264)agT>agC	p.S88S	ITGB3BP_ENST00000271002.10_Silent_p.S49S|ITGB3BP_ENST00000283568.8_Silent_p.S49S	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	7	47	0	34	49					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			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						GCTCTTCAGAACTTGTGGGAG	0.328000													1	1	1	1	1	1	0.991063	8	52	0	37	1	9.990622e-01	18	77	0	37	5
ROR1	4919	broad.mit.edu	37	1	64605808	64605808	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:64605808T>C	ENST00000371079.1	+	6	1002	c.627T>C	c.(625-627)atT>atC	p.I209I	ROR1_ENST00000482426.1_3'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000371080.1_Silent_p.I209I|ROR1_ENST00000545203.1_5'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	14	22	0	37	209	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TCACTATGATTGGCACTTCCA	0.438000													1	1	1	1	1	1	0.999930	14	23	0	39	1	4.947735e-01	2	1	0	39	5
SGIP1	84251	broad.mit.edu	37	1	67109320	67109320	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67109320C>T	ENST00000371037.4	+	7	454	c.377C>T	c.(376-378)tCt>tTt	p.S126F	SGIP1_ENST00000371035.3_Missense_Mutation_p.S83F|SGIP1_ENST00000371036.3_Missense_Mutation_p.S101F|SGIP1_ENST00000371039.1_Missense_Mutation_p.S102F|SGIP1_ENST00000237247.6_Missense_Mutation_p.S130F|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	32	67	0	93	126					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			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCATTGCAATCTAAAGACATT	0.373000													1	0	1	1	1	1	1.000000	33	71	0	95	0	0	0	1	0	95	4
SGIP1	84251	broad.mit.edu	37	1	67199467	67199467	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67199467C>A	ENST00000371037.4	+	21	2012	c.1935C>A	c.(1933-1935)ttC>ttA	p.F645L	SGIP1_ENST00000371035.3_Missense_Mutation_p.F435L|SGIP1_ENST00000371036.3_Missense_Mutation_p.F447L|SGIP1_ENST00000371039.1_Missense_Mutation_p.F448L|SGIP1_ENST00000237247.6_Missense_Mutation_p.F676L|SGIP1_ENST00000435165.2_Missense_Mutation_p.F150L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	21	36	0	73	645					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			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCAAGGAATTCTGGGTAAACA	0.348000													1	1	1	1	1	1	1.000000	23	40	0	84	0	3.110323e-01	0	3	0	84	5
MIER1	57708	broad.mit.edu	37	1	67423799	67423799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67423799C>T	ENST00000357692.2	+	6	546	c.289C>T	c.(289-291)Cga>Tga	p.R97*	MIER1_ENST00000401042.3_Nonsense_Mutation_p.R80*|MIER1_ENST00000401041.1_Nonsense_Mutation_p.R133*|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371018.3_Nonsense_Mutation_p.R97*|MIER1_ENST00000355977.6_Nonsense_Mutation_p.R17*|MIER1_ENST00000371016.1_Nonsense_Mutation_p.R97*|MIER1_ENST00000355356.3_Nonsense_Mutation_p.R80*|MIER1_ENST00000371014.1_Nonsense_Mutation_p.R133*	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	21	33	0	39	104	Glu-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TAGTACTGTTCGACTACCTga	0.388000													1	1	1	1	1	1	1.000000	22	33	0	41	1	8.815340e-01	3	5	0	41	5
IL23R	149233	broad.mit.edu	37	1	67724382	67724382	+	Silent	SNP	A	A	G	rs139858085		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:67724382A>G	ENST00000347310.5	+	11	1632	c.1461A>G	c.(1459-1461)caA>caG	p.Q487Q	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.Q232Q|IL23R_ENST00000473881.1_3'UTR	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	21	50	0	58	487					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			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						ATAAACCCCAAATTTCAAATT	0.388000													1	1	1	1	1	1	0.999999	21	54	0	62	0	0	0	0	0	62	5
LRRC7	57554	broad.mit.edu	37	1	70505121	70505121	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:70505121A>C	ENST00000310961.5	+	22	3933	c.3515A>C	c.(3514-3516)aAa>aCa	p.K1172T	LRRC7_ENST00000415775.2_Missense_Mutation_p.K451T|LRRC7_ENST00000035383.5_Missense_Mutation_p.K1167T			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	23	58	0	86	1167						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGTTCCTGAAAAGGAATGGC	0.512000													1	1	1	1	1	1	1.000000	25	64	0	97	0	0	0	0	0	97	5
ANKRD13C	81573	broad.mit.edu	37	1	70742520	70742520	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:70742520C>T	ENST00000370944.4	-	10	1536	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.R373Q|ANKRD13C_ENST00000464236.1_5'UTR	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	22	29	0	55	408					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AGACTGTCTTCGAATCGGCTG	0.313000													1	1	1	1	1	1	1.000000	27	36	0	66	1	9.999937e-01	14	20	0	66	5
NEGR1	257194	broad.mit.edu	37	1	72058522	72058522	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:72058522G>A	ENST00000357731.4	-	6	1157	c.918C>T	c.(916-918)acC>acT	p.T306T	NEGR1_ENST00000306821.3_Silent_p.T178T|NEGR1_ENST00000434200.1_Silent_p.T260T	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	28	47	0	70	306	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		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)		GGCTCGCATTGGTTGTGCCTA	0.463000													1	1	1	1	1	1	1.000000	30	50	0	80	0	0	0	0	0	80	5
LRRIQ3	127255	broad.mit.edu	37	1	74649284	74649284	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:74649284C>A	ENST00000354431.4	-	2	276	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.D29Y|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.D29Y|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.D29Y	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	9	10	0	13	29										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						aaaacaAAATCTTTTTGACCT	0.333000													0	1	1	1	1	1	0.998992	10	11	0	13	1	4.686957e-01	2	1	0	13	4
FPGT-TNNI3K	0	broad.mit.edu	37	1	74801723	74801723	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:74801723C>T	ENST00000370895.1	+	9	910	c.875C>T	c.(874-876)gCt>gTt	p.A292V	TNNI3K_ENST00000370891.2_Missense_Mutation_p.A292V|TNNI3K_ENST00000326637.3_Missense_Mutation_p.A191V|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A292V|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.A292V			Q59H18	TNI3K_HUMAN		8	25	0	31	191						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										AAATTTGGTGCTGATGTAAAT	0.358000													1	1	1	1	1	1	0.992313	8	27	0	34	0	0	0	1	0	34	5
FPGT-TNNI3K	0	broad.mit.edu	37	1	74835209	74835209	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:74835209C>T	ENST00000370895.1	+	18	1945	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	TNNI3K_ENST00000370891.2_Missense_Mutation_p.A637V|TNNI3K_ENST00000326637.3_Missense_Mutation_p.A536V|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A637V|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.A637V			Q59H18	TNI3K_HUMAN		27	62	0	108	536	Protein kinase.		T -> M (in dbSNP:rs2274260).			cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										AGCCAGTTTGCCATTGTCACT	0.468000													1	1	1	1	1	1	1.000000	34	66	0	119	0	1.199315e-01	1	1	0	119	5
ST6GALNAC3	256435	broad.mit.edu	37	1	77094422	77094422	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:77094422G>T	ENST00000328299.3	+	5	997	c.849G>T	c.(847-849)aaG>aaT	p.K283N		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	28	49	0	105	283					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TCACTGAAAAGAAAGTGTTTG	0.388000													1	1	1	1	1	1	1.000000	29	54	0	115	0	0	0	0	0	115	5
AK5	26289	broad.mit.edu	37	1	77752766	77752766	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:77752766A>T	ENST00000344720.5	+	2	1149	c.123A>T	c.(121-123)ttA>ttT	p.L41F	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.L67F	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	5	61	0	73	67					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGAAGACCTTACCTCCACTAA	0.363000													1	0	1	1	0	1	0.982352	7	67	0	77	0	0	0	0	0	77	3
NEXN	91624	broad.mit.edu	37	1	78392235	78392235	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78392235G>T	ENST00000330010.8	+	6	731	c.434G>T	c.(433-435)aGa>aTa	p.R145I	NEXN_ENST00000457030.1_Missense_Mutation_p.R195I|NEXN_ENST00000334785.7_Missense_Mutation_p.R209I	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	10	59	0	63	209	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAGATAAAAGAATAAGATAT	0.299000													1	1	1	1	1	1	0.998793	11	59	0	68	0	3.300373e-01	0	7	0	68	5
NEXN	91624	broad.mit.edu	37	1	78401572	78401572	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78401572G>T	ENST00000330010.8	+	10	1421	c.1124G>T	c.(1123-1125)aGg>aTg	p.R375M	NEXN_ENST00000457030.1_Missense_Mutation_p.R425M|NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000334785.7_Missense_Mutation_p.R439M	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	13	19	0	30	439	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAATTAAAAAGGAGTGGCTCT	0.313000													1	1	1	1	1	1	0.999862	13	20	0	34	0	5.201517e-01	1	3	0	34	5
NEXN	91624	broad.mit.edu	37	1	78401718	78401718	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78401718A>C	ENST00000330010.8	+	10	1567	c.1270A>C	c.(1270-1272)Aat>Cat	p.N424H	NEXN_ENST00000457030.1_Missense_Mutation_p.N474H|NEXN_ENST00000480732.1_3'UTR|NEXN_ENST00000334785.7_Missense_Mutation_p.N488H	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	14	25	0	43	488	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AGAAGCTGAAAATTTTCATGA	0.294000													1	1	1	1	1	1	0.999967	15	25	0	46	0	6.188069e-01	0	5	0	46	5
DNAJB4	11080	broad.mit.edu	37	1	78479068	78479068	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:78479068C>A	ENST00000370763.5	+	2	802	c.545C>A	c.(544-546)tCt>tAt	p.S182Y	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	27	52	0	96	182					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						ATGAAGATTTCTCGAAAAAGG	0.403000													1	1	1	1	1	1	1.000000	29	55	0	100	1	9.950146e-01	6	14	0	100	5
LPHN2	23266	broad.mit.edu	37	1	82447575	82447575	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:82447575C>T	ENST00000370728.1	+	21	3830	c.3185C>T	c.(3184-3186)aCt>aTt	p.T1062I	LPHN2_ENST00000370715.1_Missense_Mutation_p.T1049I|LPHN2_ENST00000359929.3_Missense_Mutation_p.T1049I|LPHN2_ENST00000370723.1_Missense_Mutation_p.T1064I|LPHN2_ENST00000370713.1_Missense_Mutation_p.T1049I|LPHN2_ENST00000335786.5_Missense_Mutation_p.T1062I|LPHN2_ENST00000319517.6_Missense_Mutation_p.T1049I|LPHN2_ENST00000394879.1_Missense_Mutation_p.T1064I|LPHN2_ENST00000370730.1_Missense_Mutation_p.T1062I|LPHN2_ENST00000370721.1_Missense_Mutation_p.T987I|LPHN2_ENST00000370717.2_Missense_Mutation_p.T1077I|LPHN2_ENST00000271029.4_Missense_Mutation_p.T1077I|LPHN2_ENST00000370727.1_Missense_Mutation_p.T1077I|LPHN2_ENST00000370725.1_Missense_Mutation_p.T1077I|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	40	78	0	129	1062					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATGAGGAGACTATTGTGATG	0.398000													1	1	1	1	1	1	1.000000	42	80	0	132	1	9.999913e-01	11	29	0	132	5
TTLL7	79739	broad.mit.edu	37	1	84386806	84386806	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:84386806C>T	ENST00000260505.8	-	12	1705	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	22	33	0	43	443					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATGTTCTTCTCGTGAGATCTG	0.323000													1	1	1	1	1	1	1.000000	23	42	0	51	1	8.275887e-01	2	6	0	51	5
TTLL7	79739	broad.mit.edu	37	1	84403608	84403608	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:84403608C>T	ENST00000260505.8	-	8	1192	c.815G>A	c.(814-816)cGt>cAt	p.R272H	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	8	86	0	71	272	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTTGATGGAACGTTTGCTGCC	0.368000													1	1	1	1	0	1	0.990359	8	91	0	76	1	1.283944e-01	2	5	0	76	4
LPAR3	23566	broad.mit.edu	37	1	85331550	85331550	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:85331550A>C	ENST00000440886.1	-	1	292	c.254T>G	c.(253-255)tTc>tGc	p.F85C	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.F85C			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	82	124	0	197	85					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAACATCAGGAATACATAGGC	0.463000													1	1	1	1	1	1	1.000000	86	132	0	205	1	5.162034e-01	4	0	0	205	5
BCL10	8915	broad.mit.edu	37	1	85736388	85736388	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:85736388G>A	ENST00000370580.1	-	2	996	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W		NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	19	33	0	48	87	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			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		TTTTCTCGCCGAATAGATTCA	0.353000			T	IGH@	MALT								1	1	1	1	1	1	0.999998	19	34	0	50	1	9.999988e-01	29	26	0	50	5
ODF2L	57489	broad.mit.edu	37	1	86826116	86826116	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:86826116T>G	ENST00000359242.3	-	12	1528	c.1247A>C	c.(1246-1248)aAa>aCa	p.K416T	ODF2L_ENST00000370566.3_Missense_Mutation_p.K387T|ODF2L_ENST00000294678.2_Missense_Mutation_p.K387T|ODF2L_ENST00000317336.7_Missense_Mutation_p.K416T|ODF2L_ENST00000370567.1_Missense_Mutation_p.K387T|ODF2L_ENST00000394731.1_Missense_Mutation_p.K256T|ODF2L_ENST00000524695.1_5'UTR	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	9	22	0	29	416						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CACCTGAGTTTTATACATTTC	0.294000													1	1	1	1	1	1	0.998296	10	24	0	31	1	9.999322e-01	22	35	0	31	5
CLCA1	1179	broad.mit.edu	37	1	86951095	86951095	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:86951095C>A	ENST00000234701.3	+	7	1156	c.805C>A	c.(805-807)Ctc>Atc	p.L269I	CLCA1_ENST00000394711.1_Missense_Mutation_p.L269I			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	30	51	0	75	269					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		AAAATGCAATCTCCGAAGCAC	0.378000													1	1	1	1	1	1	1.000000	32	54	0	82	0	0	0	0	0	82	5
CLCA4	22802	broad.mit.edu	37	1	87031554	87031554	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:87031554T>A	ENST00000370563.3	+	6	847	c.805T>A	c.(805-807)Ttt>Att	p.F269I	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	25	34	0	51	269						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AAAGTGCAATTTTAGAAGTAC	0.343000													1	1	1	1	1	1	1.000000	30	37	0	53	0	0	0	0	0	53	5
CLCA4	22802	broad.mit.edu	37	1	87036850	87036850	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:87036850G>T	ENST00000370563.3	+	8	1315	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	CLCA4_ENST00000496322.1_3'UTR|CLCA4_ENST00000263723.5_Nonsense_Mutation_p.E138*	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	38	83	0	149	425	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TTGTATTGATGAAGTGAAACA	0.433000													1	1	1	1	1	1	1.000000	40	89	0	164	0	0	0	0	0	164	5
PKN2	5586	broad.mit.edu	37	1	89271369	89271369	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89271369T>G	ENST00000316005.7	+	11	2050	c.1691T>G	c.(1690-1692)aTt>aGt	p.I564S	PKN2_ENST00000544045.1_Intron|PKN2_ENST00000370513.5_Intron|PKN2_ENST00000370521.3_Intron|PKN2_ENST00000370505.3_Intron			Q16513	PKN2_HUMAN	protein kinase N2	9	13	0	23	0					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GTGTCTGAGATTTTAAGCATC	0.433000													1	0	1	1	1	1	0.997155	9	15	0	23	0	9.489089e-01	0	9	0	23	4
RBMXL1	494115	broad.mit.edu	37	1	89449102	89449102	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89449102C>A	ENST00000399794.2	-	3	1123	c.408G>T	c.(406-408)atG>atT	p.M136I	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000413769.1_5'UTR|RBMXL1_ENST00000321792.5_Missense_Mutation_p.M136I|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	45	85	0	163	136							nucleotide binding|RNA binding										TGTTAAAATTCATGGAATATC	0.517000													1	1	1	1	1	1	1.000000	47	91	0	174	1	9.996758e-01	11	16	0	174	5
GBP3	2635	broad.mit.edu	37	1	89476677	89476677	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89476677A>C	ENST00000370481.4	-	8	1492	c.1272T>G	c.(1270-1272)atT>atG	p.I424M		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	86	128	0	233	424						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GTTTCGAATAAATTCCCGCCT	0.413000													1	1	1	1	1	1	1.000000	90	141	0	247	1	1	28	46	0	247	5
GBP1	2633	broad.mit.edu	37	1	89523768	89523768	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89523768C>T	ENST00000370473.4	-	6	1000	c.781G>A	c.(781-783)Gaa>Aaa	p.E261K		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	58	127	0	223	261					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TGCACAAATTCGGGGTCCAGC	0.458000													1	0	1	1	1	1	1.000000	59	136	0	248	1	1	80	88	0	248	4
GBP2	2634	broad.mit.edu	37	1	89585912	89585912	+	Silent	SNP	G	G	A	rs148121752		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89585912G>A	ENST00000370466.3	-	4	646	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	29	69	0	104	126					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TATTGTACACGAAGGTGCTGC	0.458000													1	1	1	1	1	1	1.000000	33	75	0	123	1	1	63	98	0	123	5
GBP2	2634	broad.mit.edu	37	1	89587645	89587645	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:89587645G>A	ENST00000370466.3	-	2	273	c.5C>T	c.(4-6)gCt>gTt	p.A2V		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	32	65	0	92	2					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GATCTCTGGAGCCATGTCCAG	0.443000													1	1	1	1	1	1	1.000000	35	71	0	99	1	1	39	73	0	99	5
ZNF644	84146	broad.mit.edu	37	1	91383672	91383672	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:91383672C>T	ENST00000370440.1	-	5	3945	c.3728G>A	c.(3727-3729)gGa>gAa	p.G1243E	ZNF644_ENST00000361321.5_Missense_Mutation_p.G21E|ZNF644_ENST00000347275.5_Missense_Mutation_p.G21E|ZNF644_ENST00000337393.5_Missense_Mutation_p.G1243E|ZNF644_ENST00000467231.1_5'UTR			Q9H582	ZN644_HUMAN	zinc finger protein 644	16	16	0	46	1243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G1243A(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		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)		CTTCTTGCTTCCAGATCTTGA	0.358000													1	1	1	1	1	1	0.999999	19	19	0	55	1	1	27	24	0	55	5
ZNF644	84146	broad.mit.edu	37	1	91404618	91404618	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:91404618C>A	ENST00000370440.1	-	3	2510	c.2293G>T	c.(2293-2295)Gaa>Taa	p.E765*	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.E765*|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	24	41	0	55	765					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		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)		GAACTAGCTTCTTCTTTTTTG	0.343000													1	1	1	1	1	1	1.000000	25	43	0	57	1	9.701935e-01	2	11	0	57	5
HFM1	164045	broad.mit.edu	37	1	91845729	91845729	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:91845729A>G	ENST00000370425.3	-	8	1036	c.938T>C	c.(937-939)tTt>tCt	p.F313S	HFM1_ENST00000370424.3_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	20	34	0	44	313	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		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)		AGCTAGTTCAAACACTACAGT	0.284000													1	1	1	1	1	1	1.000000	21	37	0	49	0	0	0	0	0	49	5
BRDT	676	broad.mit.edu	37	1	92467660	92467660	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:92467660G>T	ENST00000370389.2	+	16	3047	c.2123G>T	c.(2122-2124)aGt>aTt	p.S708I	BRDT_ENST00000399546.2_Missense_Mutation_p.S781I|BRDT_ENST00000402388.1_Missense_Mutation_p.S781I|BRDT_ENST00000362005.3_Missense_Mutation_p.S781I|BRDT_ENST00000394530.3_Missense_Mutation_p.S735I	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	6	26	0	42	781					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TCTGGTGATAGTGACACAACG	0.338000													1	0	1	1	1	1	0.992009	8	31	0	51	0	0	0	0	0	51	4
GLMN	11146	broad.mit.edu	37	1	92737082	92737082	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:92737082G>T	ENST00000370360.3	-	8	944	c.863C>A	c.(862-864)tCt>tAt	p.S288Y	GLMN_ENST00000534881.1_Missense_Mutation_p.S288Y	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	33	72	0	122	288					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			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		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)		ATATGCCAGAGAAGCCATTGA	0.343000									Multiple Glomus Tumors (of the Skin), Familial				1	1	0	1	1	1	1.000000	33	81	0	136	1	9.863305e-01	11	9	0	136	4
GLMN	11146	broad.mit.edu	37	1	92756986	92756986	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:92756986A>C	ENST00000370360.3	-	4	355	c.274T>G	c.(274-276)Tta>Gta	p.L92V	GLMN_ENST00000534881.1_Missense_Mutation_p.L92V	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	22	8	0	28	92					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			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		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)		TTTACCAATAAATCAAAGATC	0.308000									Multiple Glomus Tumors (of the Skin), Familial				1	1	1	1	1	1	1.000000	24	9	0	29	1	9.988361e-01	8	1	0	29	5
BCAR3	8412	broad.mit.edu	37	1	94027904	94027904	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94027904T>C	ENST00000370244.1	-	14	2660	c.2372A>G	c.(2371-2373)aAa>aGa	p.K791R	BCAR3_ENST00000370247.3_Missense_Mutation_p.K700R|BCAR3_ENST00000370243.1_Missense_Mutation_p.K791R|BCAR3_ENST00000539242.1_Missense_Mutation_p.K467R|BCAR3_ENST00000260502.6_Missense_Mutation_p.K791R	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	33	49	0	74	791	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		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)		TTGTGCACCTTTGCTGCCCCA	0.388000													1	1	1	1	1	1	1.000000	36	53	0	84	1	9.999998e-01	21	24	0	84	5
BCAR3	8412	broad.mit.edu	37	1	94032978	94032978	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94032978G>A	ENST00000370244.1	-	13	2445	c.2157C>T	c.(2155-2157)cgC>cgT	p.R719R	BCAR3_ENST00000370247.3_Silent_p.R628R|BCAR3_ENST00000370243.1_Silent_p.R719R|BCAR3_ENST00000539242.1_Silent_p.R395R|BCAR3_ENST00000260502.6_Silent_p.R719R	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	8	53	0	68	719	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		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)		TCACAGCCTGGCGCTCCATTA	0.483000													1	1	1	1	1	1	0.995339	9	56	0	71	1	9.776684e-01	14	31	0	71	5
DNTTIP2	30836	broad.mit.edu	37	1	94342350	94342350	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94342350T>G	ENST00000436063.2	-	2	1198	c.1141A>C	c.(1141-1143)Agc>Cgc	p.S381R	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	41	105	0	166	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		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)		TTTATGGGGCTCTTTTTGTTG	0.393000													1	1	1	1	1	1	1.000000	46	112	0	180	1	1	70	50	0	180	5
ABCA4	24	broad.mit.edu	37	1	94528743	94528743	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:94528743G>T	ENST00000370225.3	-	12	1771	c.1685C>A	c.(1684-1686)tCt>tAt	p.S562Y	ABCA4_ENST00000535735.1_Missense_Mutation_p.S562Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	49	101	0	157	562					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		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)		GGGTGGTAGAGAGCTGGTCCA	0.493000													1	1	1	1	1	1	1.000000	52	106	0	165	0	0	0	0	0	165	5
TMEM56	148534	broad.mit.edu	37	1	95657239	95657239	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:95657239T>C	ENST00000370203.4	+	7	898	c.607T>C	c.(607-609)Tat>Cat	p.Y203H	RP11-57H12.3_ENST00000419846.1_RNA|RP11-57H12.6_ENST00000604534.1_Intron|RP11-57H12.3_ENST00000421762.1_RNA	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	45	73	0	108	203	TLC.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		GTATTCCGTGTATGGAACAGA	0.393000													1	1	1	1	1	1	1.000000	48	81	0	124	1	9.986215e-01	9	12	0	124	5
DPYD	1806	broad.mit.edu	37	1	98015142	98015142	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:98015142A>G	ENST00000370192.3	-	12	1598	c.1498T>C	c.(1498-1500)Tct>Cct	p.S500P		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	20	28	0	60	500					'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			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		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)	ATGTACCAAGAAGCTTGCTTT	0.388000													1	1	1	1	1	1	1.000000	24	31	0	66	1	1	24	32	0	66	5
SNX7	51375	broad.mit.edu	37	1	99161227	99161227	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:99161227A>C	ENST00000370189.5	+	6	965	c.601A>C	c.(601-603)Aat>Cat	p.N201H	SNX7_ENST00000306121.3_Missense_Mutation_p.N265H|SNX7_ENST00000529992.1_Missense_Mutation_p.N210H			Q9UNH6	SNX7_HUMAN	sorting nexin 7	6	54	0	71	201					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		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)		CCAGAAAATAAATTTGATAGA	0.338000													1	1	1	1	1	1	0.990902	8	58	0	81	1	9.982401e-01	13	80	0	81	5
LPPR5	0	broad.mit.edu	37	1	99418684	99418684	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:99418684C>T	ENST00000370188.3	-	3	923	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	LPPR5_ENST00000263177.4_Missense_Mutation_p.R188Q	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		23	34	0	72	188						integral to membrane	hydrolase activity										AAAGGTTTTTCGGGCTCTCAT	0.418000													1	1	1	1	1	1	1.000000	25	37	0	77	0	0	0	1	0	77	5
LPPR4	0	broad.mit.edu	37	1	99771407	99771407	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:99771407G>A	ENST00000370185.3	+	7	1630	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	LPPR4_ENST00000370184.1_Missense_Mutation_p.R220Q|LPPR4_ENST00000457765.1_Missense_Mutation_p.R320Q	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		26	51	0	89	378							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		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)		ATCCTCAACCGAAACCACAGA	0.458000													1	1	1	1	1	1	1.000000	27	53	0	90	0	0	0	0	0	90	5
SLC35A3	23443	broad.mit.edu	37	1	100480922	100480922	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:100480922G>T	ENST00000370155.3	+	6	1091	c.699G>T	c.(697-699)aaG>aaT	p.K233N	SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370153.1_Missense_Mutation_p.K275N|SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000427993.2_Missense_Mutation_p.K233N	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	12	25	0	25	233					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		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)		TGGTATCAAAGAATGGATTTT	0.299000													1	1	1	1	1	1	0.999808	13	29	0	27	1	9.992017e-01	20	14	0	27	5
GPR88	54112	broad.mit.edu	37	1	101004646	101004646	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:101004646G>A	ENST00000315033.4	+	2	563	c.124G>A	c.(124-126)Gcc>Acc	p.A42T		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	5	12	0	26	42						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		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)		TTCGGGCCTGGCCATCGGGGG	0.657000													1	0	1	1	1	1	0.948337	5	12	0	27	0	0	0	1	0	27	4
S1PR1	1901	broad.mit.edu	37	1	101704898	101704898	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:101704898C>T	ENST00000305352.6	+	2	733	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	S1PR1_ENST00000475821.1_3'UTR	NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	32	53	0	85	120					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GTGGTTTCTGCGGGAAGGGAG	0.552000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	33	55	0	87	1	9.937296e-01	3	14	0	87	5
COL11A1	1301	broad.mit.edu	37	1	103548435	103548435	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:103548435G>T	ENST00000358392.2	-	2	517	c.200C>A	c.(199-201)tCt>tAt	p.S67Y	COL11A1_ENST00000370096.3_Missense_Mutation_p.S67Y|COL11A1_ENST00000512756.1_Missense_Mutation_p.S67Y|COL11A1_ENST00000353414.4_Missense_Mutation_p.S67Y	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	20	50	0	113	67	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			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		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)		TGAGCCTTTAGAATTCTTTCT	0.358000													1	1	1	1	1	1	1.000000	24	56	0	134	0	0	0	0	0	134	5
PRPF38B	55119	broad.mit.edu	37	1	109238722	109238722	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109238722T>G	ENST00000370021.1	+	4	707	c.70T>G	c.(70-72)Tta>Gta	p.L24V	PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Missense_Mutation_p.L135V|PRPF38B_ENST00000370025.4_Missense_Mutation_p.L135V			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	4	47	0	43	135					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		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)		GTTATACAAATTATTTACCCT	0.363000													1	0	1	1	1	1	0.940536	5	51	0	48	1	7.090790e-01	6	20	0	48	4
PRPF38B	55119	broad.mit.edu	37	1	109242061	109242061	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109242061C>T	ENST00000370021.1	+	7	1364	c.727C>T	c.(727-729)Cga>Tga	p.R243*	PRPF38B_ENST00000370025.4_Nonsense_Mutation_p.R354*			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	6	48	0	60	354					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		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)		ggacagggatcgagaaagaga	0.468000													0	0	1	0	0	1	0.967893	6	49	0	60	1	9.922967e-01	14	68	0	60	1
AKNAD1	254268	broad.mit.edu	37	1	109394800	109394800	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109394800C>A	ENST00000370001.3	-	2	755	c.487G>T	c.(487-489)Gaa>Taa	p.E163*	AKNAD1_ENST00000369994.1_Nonsense_Mutation_p.E163*|AKNAD1_ENST00000369995.3_Nonsense_Mutation_p.E163*|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	23	43	0	58	163										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GGGGTTTGTTCTTTTGGCCAA	0.408000													1	1	1	1	1	1	1.000000	26	46	0	63	0	0	0	0	0	63	5
WDR47	22911	broad.mit.edu	37	1	109556458	109556458	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109556458C>A	ENST00000400794.3	-	4	465	c.332G>T	c.(331-333)aGa>aTa	p.R111I	WDR47_ENST00000361054.3_Intron|WDR47_ENST00000357672.3_Intron|WDR47_ENST00000369965.4_Intron|WDR47_ENST00000369962.3_Intron			O94967	WDR47_HUMAN	WD repeat domain 47	19	33	0	64	109										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		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)		GAATAAAAATCTTACATGCTG	0.368000													1	1	1	1	1	1	1.000000	21	35	0	65	1	8.946587e-01	8	1	0	65	5
CELSR2	1952	broad.mit.edu	37	1	109815829	109815829	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:109815829T>G	ENST00000271332.3	+	32	8441	c.8380T>G	c.(8380-8382)Ttt>Gtt	p.F2794V	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	4	70	0	98	2794					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			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		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)		GCCAGGAGACTTTGGGACCAC	0.652000													0	0	1	0	0	1	0.892207	4	73	0	112	1	8.380549e-01	5	58	0	112	1
GNAT2	2780	broad.mit.edu	37	1	110155430	110155430	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:110155430C>A	ENST00000351050.3	-	1	249	c.63G>T	c.(61-63)aaG>aaT	p.K21N		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	42	70	0	99	21					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		CCTGCAGCTTCTTTTCTAGCT	0.527000													1	1	1	1	1	1	1.000000	42	74	0	106	0	0	0	0	0	106	5
AMPD2	271	broad.mit.edu	37	1	110163640	110163640	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:110163640G>T	ENST00000256578.3	+	1	365	c.5G>T	c.(4-6)aGa>aTa	p.R2I	AMPD2_ENST00000342115.4_Intron|AMPD2_ENST00000526301.1_Intron|AMPD2_ENST00000528667.1_Missense_Mutation_p.R2I	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	10	14	0	31	2					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		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)		GACAACATGAGAAATCGTGGC	0.647000													1	1	1	1	0	1	0.999906	13	14	0	36	0	9.998336e-01	0	3	0	36	4
SLC16A4	9122	broad.mit.edu	37	1	110921888	110921888	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:110921888G>A	ENST00000369779.4	-	6	866	c.617C>T	c.(616-618)tCt>tTt	p.S206F	SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000472422.2_Missense_Mutation_p.S158F|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000541986.1_Missense_Mutation_p.S144F|SLC16A4_ENST00000437429.2_Missense_Mutation_p.S96F	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	11	33	0	50	206						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TTTAATACCAGAATTGTTCTC	0.423000													1	1	1	1	1	1	0.999533	12	35	0	53	0	0	0	1	0	53	5
KCNA10	3744	broad.mit.edu	37	1	111060320	111060320	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111060320G>T	ENST00000369771.2	-	1	1477	c.1090C>A	c.(1090-1092)Ctc>Atc	p.L364I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	53	91	0	153	364						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		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)		GTTTGCCCGAGGATCTGCAGC	0.557000													1	1	1	1	1	1	1.000000	55	98	0	163	0	0	0	0	0	163	5
KCNA3	3738	broad.mit.edu	37	1	111216263	111216263	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111216263G>A	ENST00000369769.2	-	1	1392	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	50	81	0	137	390				T -> S (in Ref. 5; AAA36425).		voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		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)		CGCCTTCAGCGTTTGCCCGAG	0.587000													1	1	1	1	1	1	1.000000	50	89	0	142	0	0	0	1	0	142	5
KCNA3	3738	broad.mit.edu	37	1	111216954	111216954	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111216954G>T	ENST00000369769.2	-	1	701	c.478C>A	c.(478-480)Ctc>Atc	p.L160I		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	53	102	1	188	160						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		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)		TAGTAGTAGAGGATGGCGTCG	0.647000													1	0	1	1	1	1	1.000000	58	117	1	212	0	0	0	0	1	212	4
KCNA3	3738	broad.mit.edu	37	1	111216964	111216964	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111216964G>A	ENST00000369769.2	-	1	691	c.468C>T	c.(466-468)ttC>ttT	p.F156F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	53	107	1	189	156						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		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)		GGATGGCGTCGAAGCTGGGCC	0.642000													1	0	1	1	1	1	1.000000	59	123	1	208	0	0	0	0	1	208	4
LRIF1	55791	broad.mit.edu	37	1	111492551	111492551	+	Silent	SNP	G	G	A	rs143008579		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111492551G>A	ENST00000369763.4	-	3	2181	c.1791C>T	c.(1789-1791)ttC>ttT	p.F597F	LRIF1_ENST00000494675.1_Silent_p.F61F|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Silent_p.F61F	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	23	66	0	76	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.F597F(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TAAAGGAATCGAAACCTTCTC	0.383000													1	1	1	1	1	1	1.000000	25	68	0	80	1	9.909397e-01	20	4	0	80	5
LRIF1	55791	broad.mit.edu	37	1	111493955	111493955	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111493955T>C	ENST00000369763.4	-	2	1941	c.1551A>G	c.(1549-1551)acA>acG	p.T517T	LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	29	79	0	121	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AAGTAACAGTTGTTGCATCAA	0.388000													1	1	1	1	1	1	1.000000	31	90	0	137	1	9.861552e-01	9	14	0	137	5
KCND3	3752	broad.mit.edu	37	1	112329633	112329633	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:112329633A>C	ENST00000369697.1	-	2	1271	c.1202T>G	c.(1201-1203)gTg>gGg	p.V401G	KCND3_ENST00000315987.2_Missense_Mutation_p.V401G|KCND3_ENST00000302127.4_Missense_Mutation_p.V401G			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	34	41	0	65	401						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		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)		GGAAACAATCACAGGGACTGG	0.542000													1	1	1	1	1	1	1.000000	37	43	0	68	0	0	0	0	0	68	5
WNT2B	7482	broad.mit.edu	37	1	113057506	113057506	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:113057506G>A	ENST00000369684.4	+	2	678	c.193G>A	c.(193-195)Gca>Aca	p.A65T	WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000256640.5_5'UTR|WNT2B_ENST00000369686.4_Missense_Mutation_p.A46T	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	38	59	0	98	65					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			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	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)		GTACATTGGGGCACTGGGGGC	0.562000													1	1	1	1	1	1	1.000000	40	68	0	110	0	0	1	0	0	110	5
WNT2B	7482	broad.mit.edu	37	1	113063068	113063068	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:113063068A>C	ENST00000369684.4	+	5	1598	c.1113A>C	c.(1111-1113)agA>agC	p.R371S	WNT2B_ENST00000256640.5_Missense_Mutation_p.R279S|WNT2B_ENST00000369686.4_Missense_Mutation_p.R352S	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	11	41	0	54	371					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			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	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)		AGGAATGCAGAAATACTGTGG	0.532000													1	1	1	1	1	1	0.998915	11	44	0	60	1	1.191670e-01	3	0	0	60	5
PTPN22	26191	broad.mit.edu	37	1	114372580	114372580	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:114372580C>T	ENST00000359785.5	-	17	2260	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	PTPN22_ENST00000528414.1_Missense_Mutation_p.D654N|PTPN22_ENST00000525799.1_Missense_Mutation_p.D582N|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.D709N|PTPN22_ENST00000538253.1_Missense_Mutation_p.D465N	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	9	20	0	43	709					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			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	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)		CAATCTTCATCGGCAAGAAAG	0.353000													1	0	1	1	1	1	0.998334	10	23	0	49	1	5.945946e-01	3	3	0	49	4
AP4B1	10717	broad.mit.edu	37	1	114438410	114438410	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:114438410C>T	ENST00000369569.1	-	9	2041	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	AP4B1_ENST00000369567.1_Silent_p.E419E|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Silent_p.E587E|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	14	31	0	63	587					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	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)		TTTTAGGAAGCTCTGGGTCAC	0.453000													1	1	1	1	1	1	0.999956	15	32	0	69	1	9.999627e-01	21	28	0	69	5
TRIM33	51592	broad.mit.edu	37	1	114964082	114964082	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:114964082C>T	ENST00000358465.2	-	11	2120	c.2037G>A	c.(2035-2037)tcG>tcA	p.S679S	TRIM33_ENST00000369543.2_Silent_p.S679S|TRIM33_ENST00000450349.2_Silent_p.S287S	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	21	64	0	89	679					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			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	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)		TATCTGGCAGCGATGGAAGGT	0.403000			T	RET	papillary thyroid								1	1	1	1	1	1	0.999999	21	70	0	101	1	9.166070e-01	5	12	0	101	5
NRAS	4893	broad.mit.edu	37	1	115256514	115256514	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:115256514G>A	ENST00000369535.4	-	3	450	c.197C>T	c.(196-198)gCc>gTc	p.A66V		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	39	73	0	137	66					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			NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	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)		GTCTCTCATGGCACTGTACTC	0.443000		50	Mis		melanoma, MM, AML, thyroid				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			1	1	1	1	1	1	1.000000	42	76	0	151	1	9.999819e-01	15	21	0	151	5
IGSF3	3321	broad.mit.edu	37	1	117150700	117150700	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:117150700C>A	ENST00000369486.3	-	5	1851	c.1086G>T	c.(1084-1086)aaG>aaT	p.K362N	IGSF3_ENST00000369483.1_Missense_Mutation_p.K362N|IGSF3_ENST00000318837.6_Missense_Mutation_p.K362N	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	31	92	0	145	362	Ig-like C2-type 3.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	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)		GGTGGTAGATCTTCAGCACAA	0.542000													1	0	1	1	0	1	1.000000	35	103	0	136	1	6.747720e-02	2	0	0	136	3
CD101	9398	broad.mit.edu	37	1	117552698	117552698	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:117552698A>G	ENST00000256652.4	+	2	328	c.270A>G	c.(268-270)cgA>cgG	p.R90R	CD101_ENST00000369470.1_Silent_p.R90R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	22	28	0	71	90	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	p.R90R(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCGGGTGCGAAGCGGAGACG	0.532000													1	1	1	1	1	1	1.000000	22	28	0	76	0	0	0	0	0	76	5
CD101	9398	broad.mit.edu	37	1	117554504	117554504	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:117554504G>A	ENST00000256652.4	+	3	815	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	CD101_ENST00000369470.1_Missense_Mutation_p.E253K	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	11	25	0	43	253	Ig-like C2-type 2.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGAGGCAACGGAATGGATTCA	0.493000													1	1	1	1	1	1	0.999129	11	28	0	43	0	0	0	1	0	43	5
MAN1A2	10905	broad.mit.edu	37	1	118042105	118042105	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:118042105G>T	ENST00000356554.3	+	11	2341	c.1606G>T	c.(1606-1608)Gaa>Taa	p.E536*		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	14	29	0	49	536					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			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	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)		AGAAGTAATTGAAACCTATTG	0.453000													1	1	1	1	1	1	0.999958	15	31	0	51	1	8.339725e-01	2	7	0	51	5
SPAG17	200162	broad.mit.edu	37	1	118530745	118530745	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:118530745G>T	ENST00000336338.5	-	39	5669	c.5604C>A	c.(5602-5604)ttC>ttA	p.F1868L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	4	10	0	15	1868						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	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)		TCTTTTCAAAGAAATCTTTAC	0.363000													1	0	1	1	1	1	0.900136	4	11	0	17	0	2.218782e-01	0	3	0	17	4
HSD3B2	3284	broad.mit.edu	37	1	119964880	119964880	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:119964880C>A	ENST00000543831.1	+	4	1005	c.756C>A	c.(754-756)ttC>ttA	p.F252L	HSD3B2_ENST00000369416.3_Missense_Mutation_p.F252L	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	31	51	0	82	252					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			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	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)	GAGGTCAATTCTATTACATCT	0.527000													1	1	1	1	1	1	1.000000	33	53	0	86	0	0	0	0	0	86	5
ADAM30	11085	broad.mit.edu	37	1	120437706	120437706	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:120437706T>C	ENST00000369400.1	-	1	1412	c.1254A>G	c.(1252-1254)acA>acG	p.T418T		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	9	134	0	124	418	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	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)		GACACTCCTCTGTGGAACCAC	0.433000													1	1	1	1	0	1	0.994660	9	144	0	133	0	0	0	0	0	133	4
FAM72B	653820	broad.mit.edu	37	1	120846067	120846067	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:120846067C>A	ENST00000369390.3	+	3	1132	c.303C>A	c.(301-303)ttC>ttA	p.F101L	FAM72B_ENST00000471903.2_3'UTR|FAM72B_ENST00000355228.4_Missense_Mutation_p.F61L	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	82	128	1	295	101										large_intestine(1)|lung(2)	3	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)		ACGGACACTTCTGGATGTTTC	0.378000													1	0	1	1	0	1	1.000000	92	143	1	228	1	7.515065e-01	3	3	1	228	3
FCGR1B	2210	broad.mit.edu	37	1	120927161	120927161	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:120927161C>T	ENST00000369384.4	-	5	861	c.819G>A	c.(817-819)cgG>cgA	p.R273R	RP11-439A17.10_ENST00000426275.1_RNA|FCGR1B_ENST00000369383.4_Silent_p.R181R|RP11-439A17.9_ENST00000457996.1_RNA	NM_001017986.3	NP_001017986.1	Q92637	FCGRB_HUMAN	Fc fragment of IgG, high affinity Ib, receptor (CD64)	16	39	0	102	273					interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity			breast(1)|endometrium(1)|lung(2)	4	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)		GGGGCTCCTTCCGGTGCACCC	0.542000													1	0	1	1	0	1	0.999999	20	45	0	91	0	1.014047e-01	0	2	0	91	3
PDE4DIP	9659	broad.mit.edu	37	1	145075802	145075802	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:145075802G>A	ENST00000369359.4	-	1	99	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R21C|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R21C|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R21C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	8	117	0	173	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CGGGACGCGCGACAGCAGCAG	0.697000			T	PDGFRB	MPD								1	0	1	1	0	1	0.994704	9	132	0	204	0	0	0	0	0	204	3
ANKRD35	148741	broad.mit.edu	37	1	145562646	145562646	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:145562646A>G	ENST00000355594.4	+	10	2421	c.2334A>G	c.(2332-2334)caA>caG	p.Q778Q		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	7	5	0	23	778										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CATCCCCCCAAGTGGCCGCTC	0.627000													1	1	1	1	1	1	0.992090	7	5	0	25	1	7.588235e-01	2	2	0	25	5
GPR89A	653519	broad.mit.edu	37	1	145765393	145765393	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:145765393A>G	ENST00000313835.9	-	13	1280	c.1137T>C	c.(1135-1137)atT>atC	p.I379I	GPR89A_ENST00000462900.2_Silent_p.I354I|GPR89A_ENST00000454423.3_Silent_p.I259I|GPR89A_ENST00000534502.1_Silent_p.I354I			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	37	165	0	216	379				I -> T (in Ref. 6; BAD96943).	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			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	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)			ATAGCAGGACAATGACATTGG	0.338000													1	0	1	1	0	1	1.000000	44	190	0	213	0	0	0	0	0	213	3
OTUD7B	56957	broad.mit.edu	37	1	149943146	149943146	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:149943146T>G	ENST00000369135.3	-	3	413	c.119A>C	c.(118-120)gAt>gCt	p.D40A	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	5	64	0	68	40					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	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)			CTGTTCAAAATCACTGAGGGC	0.473000													1	1	1	1	0	1	0.939716	5	71	0	77	0	7.816810e-02	0	6	0	77	4
ANP32E	81611	broad.mit.edu	37	1	150193064	150193064	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150193064C>A	ENST00000314136.8	-	7	1106		c.e7-1		ANP32E_ENST00000533654.1_Splice_Site|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369119.3_Splice_Site|ANP32E_ENST00000369116.4_Splice_Site|ANP32E_ENST00000369115.2_Splice_Site|ANP32E_ENST00000436748.2_Splice_Site	NM_001136478.2|NM_030920.3	NP_001129950.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	42	95	0	131							cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	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)			CCTCCTTCTTCTTAAAGAGTG	0.383000													1	1	1	1	1	1	1.000000	44	102	0	137	1	1	12	107	0	137	5
C1orf54	79630	broad.mit.edu	37	1	150248154	150248154	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150248154C>A	ENST00000369102.1	+	5	905	c.135C>A	c.(133-135)gaC>gaA	p.D45E	C1orf54_ENST00000369099.3_Missense_Mutation_p.D45E|C1orf54_ENST00000369098.3_Missense_Mutation_p.D45E			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	7	15	0	25	45						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	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)			CTGCAGATGACTTTAGTGCAG	0.333000													1	0	1	1	1	1	0.993636	8	16	0	26	0	9.968987e-01	0	28	0	26	4
HORMAD1	84072	broad.mit.edu	37	1	150672634	150672634	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150672634G>T	ENST00000368993.2	-	14	1163	c.1058C>A	c.(1057-1059)tCt>tAt	p.S353Y	HORMAD1_ENST00000361824.2_Missense_Mutation_p.S353Y|HORMAD1_ENST00000322343.7_Missense_Mutation_p.S346Y|HORMAD1_ENST00000368995.4_Missense_Mutation_p.S273Y			Q86X24	HORM1_HUMAN	HORMA domain containing 1	12	23	0	13	353					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				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	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)			TTCTTTGGAAGATTTTACTGG	0.323000													0	1	1	1	1	1	0.999919	14	27	0	15	0	0	0	0	0	15	4
ANXA9	8416	broad.mit.edu	37	1	150959104	150959104	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150959104C>A	ENST00000368947.4	+	9	1055	c.579C>A	c.(577-579)atC>atA	p.I193I		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	36	59	0	80	193					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	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)			ACTCTGGAATCATTGACTATA	0.502000													1	1	1	1	1	1	1.000000	42	66	0	92	1	9.999963e-01	18	19	0	92	5
FAM63A	55793	broad.mit.edu	37	1	150973025	150973025	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:150973025T>C	ENST00000361936.5	-	6	1597	c.643A>G	c.(643-645)Aca>Gca	p.T215A	FAM63A_ENST00000361738.6_Missense_Mutation_p.T263A|FAM63A_ENST00000493834.2_Missense_Mutation_p.T120A|FAM63A_ENST00000470877.1_Intron|FAM63A_ENST00000312210.5_Missense_Mutation_p.T73A	NM_018379.4	NP_060849.2	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	37	64	0	110	215							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	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)			GAGACGCCTGTGAATCGCACA	0.483000													1	1	1	1	1	1	1.000000	41	74	0	122	0	5.852594e-01	0	5	0	122	5
SEMA6C	10500	broad.mit.edu	37	1	151108986	151108986	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151108986C>A	ENST00000341697.3	-	12	2735	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	77	145	0	224	348	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	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)			TCCTCTGCTCCTTGAACTTGC	0.567000													1	1	1	1	1	1	1.000000	81	154	0	241	1	8.203834e-01	3	5	0	241	5
VPS72	6944	broad.mit.edu	37	1	151158378	151158378	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151158378C>T	ENST00000354473.4	-	2	202	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	17	57	0	81	56	Asp/Glu-rich (acidic).				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	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)			GAGTCCACTTCGTCCTCTGTG	0.517000													1	1	1	1	1	1	0.999985	17	58	0	83	1	1	39	112	0	83	5
SNX27	81609	broad.mit.edu	37	1	151611416	151611416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151611416C>T	ENST00000368843.3	+	2	484	c.364C>T	c.(364-366)Cga>Tga	p.R122*	SNX27_ENST00000458013.2_Nonsense_Mutation_p.R122*|SNX27_ENST00000368838.1_Nonsense_Mutation_p.R29*	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	27	36	0	79	122	PDZ.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGACCTGATTCGAGCAGGCGA	0.483000													1	1	1	1	1	1	1.000000	27	43	0	89	0	0	0	0	0	89	5
SNX27	81609	broad.mit.edu	37	1	151633298	151633298	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:151633298A>C	ENST00000368843.3	+	4	881	c.761A>C	c.(760-762)gAg>gCg	p.E254A	SNX27_ENST00000458013.2_Missense_Mutation_p.E254A|SNX27_ENST00000368838.1_Missense_Mutation_p.E161A	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	9	50	0	55	254	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTAATTGGTGAGAGTGACATC	0.348000													1	1	1	1	1	1	0.995226	9	63	0	67	0	1.981982e-02	1	1	0	67	5
TCHHL1	126637	broad.mit.edu	37	1	152057988	152057988	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152057988G>A	ENST00000368806.1	-	3	2234	c.2170C>T	c.(2170-2172)Cta>Tta	p.L724L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	28	70	0	82	724							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCCTCATCTAGACTTTCTAAC	0.448000													1	1	1	1	1	1	1.000000	28	74	0	83	0	0	0	0	0	83	5
TCHH	7062	broad.mit.edu	37	1	152085512	152085512	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152085512G>T	ENST00000368804.1	-	2	180	c.181C>A	c.(181-183)Ctg>Atg	p.L61M		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	16	24	0	44	61	EF-hand 2.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCAAGATCCAGAAGTTCCAGG	0.408000													1	1	1	1	1	1	0.999993	17	26	0	47	0	0	0	0	0	47	5
TCHH	7062	broad.mit.edu	37	1	152086435	152086435	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152086435A>C	ENST00000368804.1	-	1	121	c.122T>G	c.(121-123)tTt>tGt	p.F41C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	9	54	0	75	41	EF-hand 1.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGCTCCAAATTCCCTTTC	0.403000													1	1	1	1	1	1	0.999690	13	66	0	84	0	0	0	0	0	84	5
HRNR	388697	broad.mit.edu	37	1	152193031	152193031	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152193031G>T	ENST00000368801.2	-	3	1149	c.1074C>A	c.(1072-1074)tcC>tcA	p.S358S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	53	139	0	146	358					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TATAGCCAGAGGACTGTCCTG	0.547000													1	1	1	1	1	1	1.000000	57	153	0	156	0	0	0	0	0	156	5
FLG	2312	broad.mit.edu	37	1	152275493	152275493	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152275493G>T	ENST00000368799.1	-	3	11904	c.11869C>A	c.(11869-11871)Cat>Aat	p.H3957N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	38	50	0	98	3957					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGATAATGATAAGAACTA	0.428000									Ichthyosis				1	1	1	1	1	1	1.000000	39	50	0	108	0	0	0	0	0	108	5
FLG2	388698	broad.mit.edu	37	1	152329831	152329831	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152329831G>T	ENST00000388718.5	-	3	503	c.431C>A	c.(430-432)tCt>tAt	p.S144Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	53	108	0	173	144	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGTGCCCAGAACTATATCC	0.463000													1	1	1	1	1	1	1.000000	60	118	0	200	0	0	0	0	0	200	5
KPRP	448834	broad.mit.edu	37	1	152733586	152733586	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:152733586C>A	ENST00000368773.1	+	2	1580	c.1522C>A	c.(1522-1524)Cca>Aca	p.P508T	KPRP_ENST00000606109.1_Missense_Mutation_p.P508T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	28	60	0	81	508	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAATCCAGTTCCATACCCAGG	0.632000													1	1	1	1	1	1	1.000000	28	62	0	84	0	0	0	0	0	84	5
SPRR2D	6703	broad.mit.edu	37	1	153012694	153012694	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:153012694C>T	ENST00000368757.1	-	2	409	c.129G>A	c.(127-129)caG>caA	p.Q43Q	SPRR2D_ENST00000368758.3_Silent_p.Q43Q|SPRR2D_ENST00000368756.1_Silent_p.Q43Q|SPRR2D_ENST00000360379.3_Silent_p.Q43Q			P22532	SPR2D_HUMAN	small proline-rich protein 2D	25	176	0	281	43	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	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)			GTGGGCAGGGCTGTGGACACT	0.617000													1	0	1	1	1	1	0.999990	26	192	1	283	0	0	0	0	1	283	4
SNAPIN	23557	broad.mit.edu	37	1	153632005	153632005	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:153632005G>A	ENST00000368685.5	+	3	362	c.272G>A	c.(271-273)cGc>cAc	p.R91H	SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	26	47	0	80	91					intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding	p.R91L(1)		lung(3)	3	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)			GCCCGGCGACGCGTTGTCTTG	0.443000													1	1	1	1	1	1	1.000000	27	51	0	84	1	1	37	80	0	84	5
NUP210L	91181	broad.mit.edu	37	1	154098814	154098814	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:154098814G>T	ENST00000368559.3	-	10	1382	c.1311C>A	c.(1309-1311)acC>acA	p.T437T	NUP210L_ENST00000271854.3_Silent_p.T437T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	21	64	0	57	437						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	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)			AAATGATGGAGGTCAGGGATG	0.393000													1	1	1	1	1	1	1.000000	22	71	0	65	0	0	0	0	0	65	5
KCNN3	3782	broad.mit.edu	37	1	154841560	154841560	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:154841560C>A	ENST00000271915.3	-	1	1196	c.881G>T	c.(880-882)gGa>gTa	p.G294V		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	39	100	0	145	299						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	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)			AACAACAATTCCAAACATCCC	0.433000													1	1	1	1	1	1	1.000000	44	107	0	161	0	0	0	0	0	161	5
ADAM15	8751	broad.mit.edu	37	1	155023920	155023920	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:155023920T>C	ENST00000356955.2	+	1	159	c.58T>C	c.(58-60)Tcc>Ccc	p.S20P	ADAM15_ENST00000531455.1_Missense_Mutation_p.S20P|ADAM15_ENST00000360674.4_Missense_Mutation_p.S20P|ADAM15_ENST00000359280.4_Missense_Mutation_p.S20P|ADAM15_ENST00000271836.6_Missense_Mutation_p.S20P|ADAM15_ENST00000447332.3_Missense_Mutation_p.S20P|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.S20P|ADAM15_ENST00000449910.2_Missense_Mutation_p.S20P|ADAM15_ENST00000368410.2_Missense_Mutation_p.S20P|ADAM15_ENST00000368412.3_Missense_Mutation_p.S20P|ADAM15_ENST00000368413.1_Missense_Mutation_p.S20P	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	5	7	0	12	20					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			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	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)			CCCTCTGCCTTCCTGGCCGCT	0.701000													0	0	1	1	0	1	0.978551	6	7	0	15	1	9.999847e-01	26	33	0	15	2
HCN3	57657	broad.mit.edu	37	1	155252476	155252476	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:155252476T>G	ENST00000368358.3	+	2	561	c.553T>G	c.(553-555)Tac>Gac	p.Y185D	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	22	54	0	82	185						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	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)			CCCTGTGGATTACATCTTCCT	0.597000													1	1	1	1	1	1	1.000000	24	59	0	89	0	8.891929e-02	1	1	0	89	5
YY1AP1	55249	broad.mit.edu	37	1	155631027	155631027	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:155631027A>C	ENST00000405763.3	-	9	1491	c.1481T>G	c.(1480-1482)cTt>cGt	p.L494R	YY1AP1_ENST00000359205.5_Intron|YY1AP1_ENST00000295566.4_Intron|YY1AP1_ENST00000535662.1_Intron|YY1AP1_ENST00000355499.4_Intron|YY1AP1_ENST00000368340.5_Intron|YY1AP1_ENST00000347088.5_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Intron|YY1AP1_ENST00000311573.5_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000404643.1_Intron|YY1AP1_ENST00000368330.2_Intron|YY1AP1_ENST00000368339.5_Intron|YY1AP1_ENST00000361831.5_Intron					YY1 associated protein 1	15	30	0	36											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CGATTAAGGAAGTCCTTGATA	0.453000													1	0	1	1	0	1	0.999981	16	31	0	37	1	9.166073e-01	2	9	0	37	3
SMG5	23381	broad.mit.edu	37	1	156222291	156222291	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156222291G>A	ENST00000361813.5	-	19	2811	c.2667C>T	c.(2665-2667)atC>atT	p.I889I	SMG5_ENST00000368267.4_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	15	28	0	48	889	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCAGGCCATCGATCACTGGTG	0.527000													1	1	1	1	1	1	0.999981	16	32	0	53	1	1	57	80	0	53	5
NES	10763	broad.mit.edu	37	1	156642319	156642319	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156642319T>C	ENST00000368223.3	-	4	1793	c.1661A>G	c.(1660-1662)cAa>cGa	p.Q554R		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	22	33	0	43	554	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			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGTGACTCTTGAATCTCCTC	0.433000													1	1	1	1	1	1	1.000000	23	34	0	45	0	6.660452e-01	1	4	0	45	5
ISG20L2	81875	broad.mit.edu	37	1	156697363	156697363	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156697363A>C	ENST00000313146.6	-	1	864	c.82T>G	c.(82-84)Ttt>Gtt	p.F28V	ISG20L2_ENST00000368219.1_Missense_Mutation_p.F28V	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	46	61	0	103	28					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCTTGACAAAATTTCGGTGC	0.468000													1	1	1	1	1	1	1.000000	47	65	0	108	1	1	33	46	0	108	5
RRNAD1	51093	broad.mit.edu	37	1	156703223	156703223	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156703223G>A	ENST00000368216.4	+	5	1177	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	RRNAD1_ENST00000476229.1_Missense_Mutation_p.E60K|RRNAD1_ENST00000368218.4_Missense_Mutation_p.E183K	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	29	76	0	163	183						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GAAGAGCATCGAAGGGGATCA	0.597000													1	1	1	1	1	1	1.000000	30	82	0	185	1	9.999996e-01	39	34	0	185	5
ARHGEF11	9826	broad.mit.edu	37	1	156928929	156928929	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:156928929G>A	ENST00000368194.3	-	16	2327	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R390C	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	11	13	0	35	390	RGSL.				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			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCCGCAGGCGCGAGTCTGTA	0.572000													1	1	1	1	1	1	0.999471	11	14	0	38	1	9.997998e-01	17	12	0	38	5
FCRL3	115352	broad.mit.edu	37	1	157667524	157667524	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:157667524G>T	ENST00000368184.3	-	5	775	c.484C>A	c.(484-486)Cat>Aat	p.H162N	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.H162N	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	28	42	0	86	162	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCAGTACAATGATATTTGCTA	0.338000													1	1	1	1	1	1	1.000000	30	44	0	90	0	0	0	0	0	90	5
KIRREL	55243	broad.mit.edu	37	1	158064879	158064879	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158064879G>A	ENST00000368172.1	+	11	1697	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q	KIRREL_ENST00000392272.2_Missense_Mutation_p.R645Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.R764Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.R648Q|KIRREL_ENST00000359209.6_Missense_Mutation_p.R748Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.R584Q			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	11	20	0	27	748						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TACGGCCAGCGATTCCAGCAG	0.607000													1	1	1	1	1	1	0.999660	12	22	0	31	1	9.998905e-01	15	25	0	31	5
CD1A	909	broad.mit.edu	37	1	158225933	158225933	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158225933G>A	ENST00000289429.5	+	3	998	c.465G>A	c.(463-465)ggG>ggA	p.G155G		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	29	61	0	87	155					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.G155G(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CAGTGGCTGGGAATATGGCCA	0.443000													1	1	1	1	1	1	1.000000	30	64	0	95	0	0	0	0	0	95	5
CD1C	911	broad.mit.edu	37	1	158263087	158263087	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158263087G>A	ENST00000368170.3	+	5	1254	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	18	85	0	129	325					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			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGTTTAAGAAGCACTGGTGAG	0.393000													1	1	1	1	1	1	0.999995	19	93	0	141	0	0	0	0	0	141	5
OR10T2	128360	broad.mit.edu	37	1	158368397	158368397	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158368397G>T	ENST00000334438.1	-	1	859	c.860C>A	c.(859-861)cCt>cAt	p.P287H		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	12	23	0	30	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287H(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GTAGACAAGAGGATTAAGTAA	0.433000													1	1	1	1	1	1	0.999986	16	24	0	32	0	0	0	0	0	32	5
OR10X1	128367	broad.mit.edu	37	1	158548750	158548750	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158548750A>C	ENST00000368150.1	-	1	939	c.940T>G	c.(940-942)Ttt>Gtt	p.F314V		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	14	108	0	121	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATTCTTCTAAAAGCATTTTTC	0.433000													1	1	1	1	1	1	0.999812	14	113	0	125	0	0	0	0	0	125	5
OR10X1	128367	broad.mit.edu	37	1	158549183	158549183	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158549183G>T	ENST00000368150.1	-	1	506	c.507C>A	c.(505-507)ttC>ttA	p.F169L		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	23	25	0	47	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F169F(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GAGAGATAAAGAAGCCTGCAG	0.468000													1	1	1	1	1	1	1.000000	23	27	0	49	0	0	0	0	0	49	5
SPTA1	6708	broad.mit.edu	37	1	158582729	158582729	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158582729C>T	ENST00000368148.3	-	51	7192	c.7012G>A	c.(7012-7014)Gac>Aac	p.D2338N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D2335N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	17	33	0	36	2338	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			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAGTATAGTCCTCCAGTGAG	0.468000													1	1	1	1	1	1	0.999996	18	35	0	39	0	0	0	0	0	39	5
SPTA1	6708	broad.mit.edu	37	1	158605732	158605732	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158605732C>A	ENST00000368148.3	-	38	5583	c.5403G>T	c.(5401-5403)tgG>tgT	p.W1801C	SPTA1_ENST00000368147.3_Missense_Mutation_p.W1801C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	42	88	0	112	1801					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	p.W1801C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCTTCTCCCAGTGTTCAA	0.522000													1	1	1	1	1	1	1.000000	43	94	0	115	0	0	0	0	0	115	5
OR6N2	81442	broad.mit.edu	37	1	158747230	158747230	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:158747230G>T	ENST00000339258.1	-	1	195	c.196C>A	c.(196-198)Ctt>Att	p.L66I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	9	195	0	182	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AAGAAGGAAAGAACACTGACA	0.438000													1	0	1	1	0	1	0.997081	10	207	0	203	0	0	0	0	0	203	3
FCER1A	2205	broad.mit.edu	37	1	159277721	159277721	+	Nonstop_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:159277721G>T	ENST00000368115.1	+	6	872	c.773G>T	c.(772-774)tGa>tTa	p.*258L	FCER1A_ENST00000368114.1_Nonstop_Mutation_p.*225L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	10	22	0	32	0						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	AAAAACAACTGATATAATTAC	0.378000													1	1	1	1	1	1	0.999250	11	22	0	34	0	1.238095e-01	0	2	0	34	5
OR10J5	127385	broad.mit.edu	37	1	159505559	159505559	+	Missense_Mutation	SNP	C	C	T	rs146863607		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:159505559C>T	ENST00000334857.2	-	1	283	c.239G>A	c.(238-240)cGa>cAa	p.R80Q		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	41	70	0	115	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R80Q(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CAAAAGCATTCGTGGCACAAT	0.428000													1	1	1	1	1	1	1.000000	43	72	0	121	0	0	0	0	0	121	5
ATP1A2	477	broad.mit.edu	37	1	160106452	160106452	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160106452G>A	ENST00000361216.3	+	19	2745	c.2656G>A	c.(2656-2658)Gac>Aac	p.D886N	ATP1A2_ENST00000392233.3_Missense_Mutation_p.D886N|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	43	69	0	81	886					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	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)			AATCCGCCTCGACTGGGATGA	0.557000													1	1	1	1	1	1	1.000000	47	74	0	84	0	0	0	0	0	84	5
PEX19	5824	broad.mit.edu	37	1	160252876	160252876	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160252876C>A	ENST00000368072.5	-	3	225	c.204G>T	c.(202-204)gaG>gaT	p.E68D	PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000532508.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19	25	45	0	83											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAAAAACTTCTCTTGGGAAG	0.542000													1	1	1	1	0	1	1.000000	26	51	0	89	1	9.999949e-01	19	28	0	89	4
COPA	1314	broad.mit.edu	37	1	160276964	160276964	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160276964G>A	ENST00000241704.7	-	14	1520	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	COPA_ENST00000368069.3_Missense_Mutation_p.R431W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	77	128	0	207	431					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	p.R431W(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAATGCATCCGATCTAGGACA	0.478000													1	0	1	1	1	1	1.000000	85	148	0	242	1	1	39	50	0	242	4
CD84	8832	broad.mit.edu	37	1	160519727	160519727	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160519727C>T	ENST00000368054.3	-	6	936	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	CD84_ENST00000534968.1_Missense_Mutation_p.E187K|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000311224.4_Missense_Mutation_p.E318K|CD84_ENST00000368051.3_Missense_Mutation_p.R268Q|CD84_ENST00000368048.3_Missense_Mutation_p.E312K	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	25	46	0	72	318					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AACTGCACTTCGGAATAAACT	0.517000													1	1	1	1	1	1	1.000000	28	50	0	82	0	0	0	0	0	82	5
CD48	962	broad.mit.edu	37	1	160651093	160651093	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:160651093G>A	ENST00000368046.3	-	3	638	c.551C>T	c.(550-552)aCc>aTc	p.T184I	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	36	87	0	104	184	Ig-like C2-type 2.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGCATAAGGGTGGTTTCAAG	0.498000													1	1	1	1	1	1	1.000000	38	94	0	113	0	9.864017e-01	0	20	0	113	5
FCRLB	127943	broad.mit.edu	37	1	161697300	161697300	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:161697300G>T	ENST00000367948.2	+	8	1344	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000392158.1_Nonsense_Mutation_p.E377*|FCRLB_ENST00000367946.3_3'UTR|FCRLB_ENST00000367945.1_3'UTR			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	30	59	0	118	377						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TCTGCTCCGAGAAATGCAGCT	0.677000													1	1	1	1	1	1	1.000000	34	65	0	126	0	0	0	0	0	126	5
ATF6	22926	broad.mit.edu	37	1	161882144	161882144	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:161882144T>G	ENST00000367942.3	+	15	1845	c.1778T>G	c.(1777-1779)aTt>aGt	p.I593S		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	10	29	0	41	593					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			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AAAATGTCAATTGTGTTACCA	0.328000													1	1	1	1	1	1	0.999525	12	36	0	50	1	9.999909e-01	34	48	0	50	5
UAP1	6675	broad.mit.edu	37	1	162536047	162536047	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:162536047G>T	ENST00000271469.3	+	2	491	c.189G>T	c.(187-189)aaG>aaT	p.K63N	UAP1_ENST00000367924.1_Missense_Mutation_p.K63N|UAP1_ENST00000367926.4_Missense_Mutation_p.K63N|UAP1_ENST00000367925.1_Missense_Mutation_p.K63N			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	14	15	0	44	63					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			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTCACCAAAAGAATGTGGATG	0.478000													1	1	1	1	1	1	0.999954	14	16	0	46	1	9.999648e-01	17	14	0	46	5
PBX1	5087	broad.mit.edu	37	1	164761784	164761784	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:164761784C>T	ENST00000420696.2	+	3	507	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	PBX1_ENST00000401534.1_Missense_Mutation_p.R107W|PBX1_ENST00000367897.1_Missense_Mutation_p.R107W|PBX1_ENST00000540236.1_Missense_Mutation_p.R107W|PBX1_ENST00000559240.1_Missense_Mutation_p.R107W|PBX1_ENST00000540246.1_Missense_Mutation_p.R2W|PBX1_ENST00000560641.1_Missense_Mutation_p.R2W	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	23	26	0	82	107					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)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCAGCTGATGCGGCTGGACAA	0.627000			T	TCF3, EWSR1	pre B-ALL, myoepithelioma								1	1	1	1	1	1	1.000000	29	31	0	90	1	9.992134e-01	8	9	0	90	5
UCK2	7371	broad.mit.edu	37	1	165860500	165860500	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:165860500A>C	ENST00000367879.4	+	3	600	c.297A>C	c.(295-297)aaA>aaC	p.K99N	UCK2_ENST00000372212.4_Missense_Mutation_p.K99N	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	14	40	0	63	99					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					AAACACTCAAAGAAATCACTG	0.403000													1	1	1	1	1	1	0.999988	17	44	0	73	1	1	36	80	0	73	5
MAEL	84944	broad.mit.edu	37	1	166974561	166974561	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:166974561C>A	ENST00000367872.4	+	8	1016	c.772C>A	c.(772-774)Ctc>Atc	p.L258I	MAEL_ENST00000367870.2_Missense_Mutation_p.L227I|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	14	18	0	41	258					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACAAAAATTTCTCAAGGAGCC	0.398000													1	1	1	1	1	1	0.999988	16	21	0	46	0	0	0	0	0	46	5
MAEL	84944	broad.mit.edu	37	1	166985488	166985488	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:166985488T>C	ENST00000367872.4	+	9	1119	c.875T>C	c.(874-876)cTc>cCc	p.L292P	MAEL_ENST00000367870.2_Missense_Mutation_p.L261P|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	4	55	0	58	292					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AATGATATTCTCTTCTGTGCT	0.348000													1	0	1	1	0	1	0.939947	5	64	0	71	0	0	0	0	0	71	3
MAEL	84944	broad.mit.edu	37	1	166991017	166991017	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:166991017C>A	ENST00000367872.4	+	12	1474	c.1230C>A	c.(1228-1230)ttC>ttA	p.F410L	MAEL_ENST00000367870.2_Missense_Mutation_p.F379L|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	33	47	0	81	410					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TCCACAAATTCTCCAACTGTG	0.403000													1	1	1	1	1	1	1.000000	36	52	0	93	0	0	0	0	0	93	5
ADCY10	55811	broad.mit.edu	37	1	167817657	167817657	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:167817657G>T	ENST00000367848.1	-	19	2600	c.2103C>A	c.(2101-2103)gtC>gtA	p.V701V	ADCY10_ENST00000367851.4_Silent_p.V793V|ADCY10_ENST00000545172.1_Silent_p.V640V|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	7	45	0	56	793					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.V793V(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGAGGTGACAGACTTCTTCAC	0.433000													1	0	1	1	1	1	0.991125	8	50	0	62	0	0	0	0	0	62	4
ADCY10	55811	broad.mit.edu	37	1	167844384	167844384	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:167844384C>T	ENST00000367848.1	-	13	1668	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	ADCY10_ENST00000367851.4_Missense_Mutation_p.D483N|ADCY10_ENST00000545172.1_Missense_Mutation_p.D330N			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	20	37	0	48	483	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	p.D483N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAAGGGTAATCCTCCTTTCTG	0.393000													1	1	1	1	1	1	1.000000	21	39	0	51	0	0	0	0	0	51	5
DCAF6	55827	broad.mit.edu	37	1	167944083	167944083	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:167944083C>T	ENST00000367840.3	+	4	362	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	DCAF6_ENST00000312263.6_Missense_Mutation_p.R90C|DCAF6_ENST00000432587.2_Missense_Mutation_p.R59C|DCAF6_ENST00000367843.3_Missense_Mutation_p.R90C|DCAF6_ENST00000470919.1_3'UTR	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	26	32	0	70	90					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						GACAACAATTCGTTCAGGGCA	0.313000													1	1	1	1	1	1	1.000000	28	34	0	78	1	9.999683e-01	14	13	0	78	5
XCL2	6846	broad.mit.edu	37	1	168513198	168513198	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:168513198C>A	ENST00000367819.2	-	1	37	c.5G>T	c.(4-6)aGa>aTa	p.R2I		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	20	48	0	71	2					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity			large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					GATGAGAAGTCTCATGGCTGA	0.522000													1	1	1	1	1	1	1.000000	23	50	0	79	0	0	0	1	0	79	5
F5	2153	broad.mit.edu	37	1	169511762	169511762	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169511762C>A	ENST00000367796.3	-	13	2782	c.2581G>T	c.(2581-2583)Gaa>Taa	p.E861*	F5_ENST00000367797.3_Nonsense_Mutation_p.E856*			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	72	108	0	157	856	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTTTTGAATTCTCCAGCACCA	0.448000													1	1	1	1	1	1	1.000000	76	112	0	167	0	0	0	1	0	167	5
F5	2153	broad.mit.edu	37	1	169529841	169529841	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169529841G>A	ENST00000367796.3	-	4	738	c.537C>T	c.(535-537)atC>atT	p.I179I	F5_ENST00000367797.3_Silent_p.I179I|F5_ENST00000546081.1_Silent_p.I42I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	37	68	0	101	179	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			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGAAATCCTCGATCAGATTTT	0.458000													1	1	1	1	1	1	1.000000	39	71	0	104	0	0	0	0	0	104	5
SELP	6403	broad.mit.edu	37	1	169578790	169578790	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169578790G>A	ENST00000263686.6	-	8	1322	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	SELP_ENST00000367786.2_Missense_Mutation_p.R367W|SELP_ENST00000367793.2_Missense_Mutation_p.R367W|SELP_ENST00000367794.2_Missense_Mutation_p.R367W|SELP_ENST00000367792.2_Missense_Mutation_p.R367W|SELP_ENST00000367788.2_Missense_Mutation_p.R367W|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.R367W	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	24	45	0	75	429	Sushi 4.				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			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTATCACACCGAACTATATCG	0.488000													1	1	1	1	1	1	1.000000	29	51	0	83	0	0	0	1	0	83	5
C1orf112	55732	broad.mit.edu	37	1	169776949	169776949	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:169776949A>G	ENST00000286031.6	+	8	1281	c.581A>G	c.(580-582)cAg>cGg	p.Q194R	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.Q194R|C1orf112_ENST00000456684.1_Missense_Mutation_p.Q252R|C1orf112_ENST00000413811.2_Missense_Mutation_p.Q165R	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	24	35	0	57	194										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTAAGCACCAGTCCATAATA	0.348000													1	1	1	1	1	1	1.000000	24	39	0	62	1	9.821444e-01	8	6	0	62	5
GORAB	92344	broad.mit.edu	37	1	170508562	170508562	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:170508562C>T	ENST00000367763.3	+	2	368	c.348C>T	c.(346-348)ctC>ctT	p.L116L	GORAB_ENST00000367762.1_Silent_p.L116L|GORAB_ENST00000465717.1_3'UTR	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	23	53	0	88	116						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						ATTTCACTCTCACCTCCCCCG	0.468000													1	1	1	1	1	1	1.000000	25	56	0	96	1	9.705644e-01	9	7	0	96	5
PRRX1	5396	broad.mit.edu	37	1	170633455	170633455	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:170633455G>A	ENST00000239461.6	+	1	409	c.96G>A	c.(94-96)aaG>aaA	p.K32K	PRRX1_ENST00000367760.3_Silent_p.K32K|PRRX1_ENST00000497230.2_Silent_p.K32K	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	4	30	0	46	32						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGCGAAAAAGAACTTCTCCG	0.667000													1	0	1	1	1	1	0.941700	5	36	0	51	0	2.061146e-01	0	6	0	51	4
PRRC2C	23215	broad.mit.edu	37	1	171511148	171511148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:171511148G>T	ENST00000367742.3	+	16	4785	c.4543G>T	c.(4543-4545)Gaa>Taa	p.E1515*	PRRC2C_ENST00000338920.4_Nonsense_Mutation_p.E1513*|PRRC2C_ENST00000426496.2_Nonsense_Mutation_p.E1513*|PRRC2C_ENST00000392078.3_Nonsense_Mutation_p.E1515*			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	19	44	0	80	1513							protein C-terminus binding										AGAGAGGGATGAAAAAAAAAA	0.388000													1	1	1	1	1	1	0.999997	19	46	0	85	1	9.596498e-01	2	13	0	85	5
PIGC	5279	broad.mit.edu	37	1	172411565	172411565	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:172411565A>G	ENST00000367728.1	-	1	1661	c.198T>C	c.(196-198)tgT>tgC	p.C66C	PIGC_ENST00000344529.4_Silent_p.C66C|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Silent_p.C66C|C1orf105_ENST00000367727.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	48	112	0	149	66					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			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CCACAAAAACACAAACACTGC	0.478000													1	1	1	1	1	1	1.000000	55	131	0	167	1	1	62	62	0	167	5
PIGC	5279	broad.mit.edu	37	1	172411630	172411630	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:172411630T>C	ENST00000367728.1	-	1	1596	c.133A>G	c.(133-135)Aaa>Gaa	p.K45E	PIGC_ENST00000344529.4_Missense_Mutation_p.K45E|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.K45E|C1orf105_ENST00000367727.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	61	106	0	173	45					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			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TATTGGTATTTCCGAGCATGG	0.488000													1	1	1	1	1	1	1.000000	63	118	0	182	1	1	50	60	0	182	5
FASLG	356	broad.mit.edu	37	1	172633520	172633520	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:172633520C>T	ENST00000367721.2	+	3	625	c.441C>T	c.(439-441)gcC>gcT	p.A147A	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	4	26	0	33	147					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			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGAAAGTGGCCCATTTAACAG	0.428000													1	0	1	1	1	1	0.984634	7	27	0	40	0	5.405405e-02	0	2	0	40	4
TNFSF18	8995	broad.mit.edu	37	1	173020022	173020022	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173020022G>T	ENST00000404377.3	-	1	81	c.81C>A	c.(79-81)caC>caA	p.H27Q	TNFSF18_ENST00000239468.2_Missense_Mutation_p.H5Q|RP1-15D23.2_ENST00000432694.1_RNA	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	16	15	0	27	27					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						TATTTTCCAAGTGGCTCAAAC	0.383000													1	1	1	1	1	1	0.999992	16	16	0	33	0	0	0	0	0	33	5
TNFSF4	7292	broad.mit.edu	37	1	173155898	173155898	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173155898G>A	ENST00000281834.3	-	3	445	c.309C>T	c.(307-309)atC>atT	p.I103I	TNFSF4_ENST00000367718.1_Silent_p.I53I	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	26	29	0	54	103					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			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						CCTTCAGGGAGATGAGATAAA	0.458000													1	1	1	1	1	1	1.000000	27	29	0	58	0	0	0	1	0	58	5
KLHL20	27252	broad.mit.edu	37	1	173726179	173726179	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173726179A>C	ENST00000209884.4	+	7	1168	c.1032A>C	c.(1030-1032)gaA>gaC	p.E344D	KLHL20_ENST00000546011.1_Missense_Mutation_p.E155D	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	7	101	0	106	344					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			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						AGACCAATGAATGGAGAATGG	0.458000													1	1	1	1	0	1	0.981706	7	107	0	113	0	2.277363e-01	1	12	0	113	4
DARS2	55157	broad.mit.edu	37	1	173794441	173794441	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173794441T>C	ENST00000361951.4	+	1	801	c.74T>C	c.(73-75)aTc>aCc	p.I25T	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	19	51	0	89	25					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	ACCCAACCGATCTGGGGTTCT	0.473000													1	1	1	1	1	1	0.999997	19	51	0	94	1	9.971649e-01	8	20	0	94	5
SERPINC1	462	broad.mit.edu	37	1	173873151	173873151	+	Missense_Mutation	SNP	C	C	T	rs121909566		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173873151C>T	ENST00000367698.3	-	7	1389	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	25	42	0	82	424			G -> D (in AT3D; type-II; Stockholm).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TAGCGAACGGCCAGCAATCAC	0.463000													1	1	1	1	1	1	1.000000	28	50	0	90	0	0	0	0	0	90	5
SERPINC1	462	broad.mit.edu	37	1	173881126	173881126	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173881126C>A	ENST00000367698.3	-	3	553	c.435G>T	c.(433-435)gaG>gaT	p.E145D	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	31	48	0	89	145					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	CAGATGTTTTCTCAGATATGG	0.428000													1	1	1	1	1	1	1.000000	34	49	0	97	0	0	0	0	0	97	5
RC3H1	149041	broad.mit.edu	37	1	173910505	173910505	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173910505G>T	ENST00000367696.2	-	19	3500	c.3149C>A	c.(3148-3150)tCt>tAt	p.S1050Y	RC3H1_ENST00000367694.2_Missense_Mutation_p.S1041Y|RC3H1_ENST00000258349.4_Missense_Mutation_p.S1050Y			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	21	45	0	40	1050					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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CATGTCCAGAGAACACTGGTT	0.363000													1	1	1	1	1	1	1.000000	22	48	0	42	0	1.050228e-01	1	1	0	42	5
RC3H1	149041	broad.mit.edu	37	1	173962048	173962048	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:173962048G>A	ENST00000367696.2	-	2	427	c.76C>T	c.(76-78)Cga>Tga	p.R26*	RC3H1_ENST00000258349.4_Nonsense_Mutation_p.R26*|RC3H1_ENST00000367694.2_Nonsense_Mutation_p.R26*			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	6	77	0	89	26					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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ATGGGCTTTCGAATTGTTTCG	0.473000													1	1	1	1	0	1	0.981970	7	87	0	103	0	0	0	0	0	103	4
RABGAP1L	9910	broad.mit.edu	37	1	174219751	174219751	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:174219751G>T	ENST00000251507.4	+	6	1030	c.856G>T	c.(856-858)Gat>Tat	p.D286Y	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.D249Y|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	15	49	0	69	286					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AAAAGAAGACGATGGAAAAGG	0.383000													1	1	1	1	1	1	0.999968	16	57	0	78	0	0	0	1	0	78	5
GPR52	9293	broad.mit.edu	37	1	174417471	174417471	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:174417471T>C	ENST00000367685.2	+	1	260	c.222T>C	c.(220-222)taT>taC	p.Y74Y	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	52	76	0	114	74						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TACATCATTATACTACCAGCT	0.418000													1	1	1	1	1	1	1.000000	55	79	0	125	0	0	0	0	0	125	5
RFWD2	64326	broad.mit.edu	37	1	176132020	176132020	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:176132020C>A	ENST00000367669.3	-	5	1261	c.747G>T	c.(745-747)aaG>aaT	p.K249N	RFWD2_ENST00000308769.8_Missense_Mutation_p.K245N	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	11	21	0	37	249					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			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCAGTTGTTTCTTCTTCTGCA	0.338000													1	1	1	1	1	1	0.999228	11	23	0	40	1	9.992278e-01	12	21	0	40	5
RFWD2	64326	broad.mit.edu	37	1	176132999	176132999	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:176132999T>G	ENST00000367669.3	-	4	1108	c.594A>C	c.(592-594)caA>caC	p.Q198H	RFWD2_ENST00000308769.8_Missense_Mutation_p.Q198H	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	9	23	0	19	198					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			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTCAAATCTTTGCTTCTGTT	0.284000													1	1	1	1	1	1	0.998161	10	28	0	22	1	9.971485e-01	17	16	0	22	5
ASTN1	460	broad.mit.edu	37	1	176903403	176903403	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:176903403G>A	ENST00000367654.2	-	16	2593	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	ASTN1_ENST00000361833.2_Silent_p.F852F|ASTN1_ENST00000424564.2_Silent_p.F852F|ASTN1_ENST00000367657.3_Silent_p.F852F			O14525	ASTN1_HUMAN	astrotactin 1	25	32	0	67	860					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AATGGTTGCCGAACTGGTCCA	0.542000													1	1	1	1	1	1	1.000000	26	33	0	69	0	0	0	0	0	69	5
ASTN1	460	broad.mit.edu	37	1	177030254	177030254	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:177030254G>A	ENST00000367654.2	-	2	444	c.431C>T	c.(430-432)tCg>tTg	p.S144L	ASTN1_ENST00000361833.2_Missense_Mutation_p.S144L|ASTN1_ENST00000424564.2_Missense_Mutation_p.S144L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.S144L			O14525	ASTN1_HUMAN	astrotactin 1	47	88	0	156	144					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCTTCTGCCGACTCATGTTG	0.507000													1	1	1	1	1	1	1.000000	48	99	0	175	0	0	0	1	0	175	5
RALGPS2	55103	broad.mit.edu	37	1	178875917	178875917	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:178875917C>T	ENST00000367635.3	+	19	1975	c.1637C>T	c.(1636-1638)tCg>tTg	p.S546L	RALGPS2_ENST00000367634.2_Missense_Mutation_p.S520L|RALGPS2_ENST00000324778.4_Missense_Mutation_p.S511L	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	12	22	0	27	546	PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	p.S546L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTAGGAAATTCGTACAAGTTT	0.333000													1	1	1	1	1	1	0.999842	13	23	0	30	1	9.299872e-01	5	6	0	30	5
AXDND1	126859	broad.mit.edu	37	1	179380300	179380300	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179380300G>T	ENST00000367618.3	+	12	1516	c.1129G>T	c.(1129-1131)Gac>Tac	p.D377Y	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.D377Y	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	24	57	0	69	377										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGAATATCATGACTTATATAC	0.279000													1	1	1	1	1	1	1.000000	27	61	0	81	0	0	0	0	0	81	5
TDRD5	163589	broad.mit.edu	37	1	179564769	179564769	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179564769T>A	ENST00000444136.1	+	4	897	c.647T>A	c.(646-648)aTt>aAt	p.I216N	TDRD5_ENST00000294848.8_Missense_Mutation_p.I216N|TDRD5_ENST00000367614.1_Missense_Mutation_p.I216N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	8	34	0	44	216	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AAAGGTAAAATTTTTACCCAG	0.408000													1	1	1	1	1	1	0.995916	9	34	0	45	0	0	0	0	0	45	5
TDRD5	163589	broad.mit.edu	37	1	179599930	179599930	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179599930A>C	ENST00000444136.1	+	7	1251	c.1001A>C	c.(1000-1002)aAa>aCa	p.K334T	TDRD5_ENST00000294848.8_Missense_Mutation_p.K334T|TDRD5_ENST00000367614.1_Missense_Mutation_p.K334T	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	16	34	0	63	334	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CTATCACCAAAAAAATTAGGC	0.328000													1	1	1	1	1	1	0.999978	16	36	0	70	0	0	0	0	0	70	5
TOR1AIP1	26092	broad.mit.edu	37	1	179869292	179869292	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:179869292C>T	ENST00000435319.3	+	4	833	c.642C>T	c.(640-642)ttC>ttT	p.F214F	TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Silent_p.F215F	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	12	9	0	19	214						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						AGGTCAATTTCTCTGAAGAAG	0.279000													1	1	1	1	1	1	0.999972	14	11	0	22	1	9.999999e-01	28	16	0	22	5
CACNA1E	777	broad.mit.edu	37	1	181702655	181702655	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:181702655C>A	ENST00000526775.1	+	20	3139	c.2974C>A	c.(2974-2976)Cct>Act	p.P992T	CACNA1E_ENST00000360108.3_Missense_Mutation_p.P992T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P962T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P943T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1011T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P618T|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1011T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	12	25	0	46	1011					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTGCCCCATCCTGAGCTGGA	0.627000													1	1	1	1	1	1	0.999825	13	26	0	50	0	0	0	0	0	50	5
CACNA1E	777	broad.mit.edu	37	1	181724489	181724489	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:181724489C>A	ENST00000526775.1	+	27	4053	c.3888C>A	c.(3886-3888)ttC>ttA	p.F1296L	CACNA1E_ENST00000360108.3_Missense_Mutation_p.F1296L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.F1266L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.F1247L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.F1315L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.F922L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.F1315L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	69	115	0	167	1315					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F1315L(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGGGAAAGTTCTTTTATTGCA	0.448000													1	1	1	1	1	1	1.000000	73	128	0	199	0	0	0	0	0	199	5
CACNA1E	777	broad.mit.edu	37	1	181727969	181727969	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:181727969G>T	ENST00000526775.1	+	31	4678	c.4513G>T	c.(4513-4515)Gaa>Taa	p.E1505*	CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.E1505*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.E1475*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.E1456*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.E1524*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.E1131*|CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.E1524*	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	22	37	0	70	1524					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTTTTCCCTGGAATGTGTCCT	0.478000													1	1	1	1	1	1	1.000000	25	42	0	83	0	0	0	0	0	83	5
DHX9	1660	broad.mit.edu	37	1	182821465	182821465	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:182821465T>G	ENST00000367549.3	+	4	460	c.350T>G	c.(349-351)cTg>cGg	p.L117R		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	12	23	0	32	117	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			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CCTCCACATCTGGCTCTCAAA	0.468000													0	0	1	0	0	1	0.999648	12	23	0	33	1	9.999999e-01	55	40	0	33	1
DHX9	1660	broad.mit.edu	37	1	182848417	182848417	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:182848417G>A	ENST00000367549.3	+	21	2494	c.2384G>A	c.(2383-2385)cGa>cAa	p.R795Q	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	22	65	0	120	795	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			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GAGATGTTCCGAACACCATTG	0.398000													1	1	1	1	1	1	1.000000	25	73	0	142	1	1	23	146	0	142	5
LAMC1	3915	broad.mit.edu	37	1	183102561	183102561	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:183102561T>C	ENST00000258341.4	+	22	3982	c.3725T>C	c.(3724-3726)aTc>aCc	p.I1242T		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	45	91	0	105	1242	Domain II and I.				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			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGAAGAACATCTCACAGGAT	0.443000													1	1	1	1	1	1	1.000000	47	96	0	112	1	1	123	115	0	112	5
SMG7	9887	broad.mit.edu	37	1	183502819	183502819	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:183502819C>A	ENST00000367537.3	+	11	1297	c.1102C>A	c.(1102-1104)Ctt>Att	p.L368I	SMG7_ENST00000456731.2_Missense_Mutation_p.L297I|SMG7_ENST00000508461.1_Missense_Mutation_p.L297I|SMG7_ENST00000347615.2_Missense_Mutation_p.L339I|SMG7_ENST00000515829.2_Missense_Mutation_p.L339I|SMG7_ENST00000507469.1_Missense_Mutation_p.L339I			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	16	21	0	43	339					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AGTGTCTTTTCTTGGCATCCT	0.383000													1	0	1	1	0	1	0.999986	16	23	0	47	1	9.996628e-01	15	12	0	47	3
FAM129A	116496	broad.mit.edu	37	1	184787866	184787866	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:184787866G>A	ENST00000367511.3	-	9	1272	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	22	157	0	210	360					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.S360*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ACTGAATCCCGAGCTCACTGG	0.542000													1	1	1	1	1	1	1.000000	25	171	0	229	0	1.824261e-01	0	6	0	229	5
IVNS1ABP	10625	broad.mit.edu	37	1	185278208	185278208	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:185278208T>G	ENST00000367498.3	-	4	830	c.208A>C	c.(208-210)Att>Ctt	p.I70L	IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.I70L|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	11	21	0	40	70	BTB.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ACGTGAGAAATTCCATGAGGA	0.378000													1	1	1	1	1	1	0.999849	13	22	0	43	1	1	106	103	0	43	5
HMCN1	83872	broad.mit.edu	37	1	185970453	185970453	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:185970453G>T	ENST00000271588.4	+	27	4322	c.4093G>T	c.(4093-4095)Gaa>Taa	p.E1365*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.E1365*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	17	35	0	47	1365	Ig-like C2-type 11.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAAAGATAAAGAACAAGTTAC	0.343000													1	1	1	1	1	1	0.999995	18	40	0	48	0	0	0	0	0	48	5
HMCN1	83872	broad.mit.edu	37	1	186055441	186055441	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186055441C>A	ENST00000271588.4	+	58	9177	c.8948C>A	c.(8947-8949)tCt>tAt	p.S2983Y	HMCN1_ENST00000367492.2_Missense_Mutation_p.S2983Y	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	18	29	0	54	2983	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATTTCATCTCTTTGACCTGT	0.413000													1	1	1	1	1	1	0.999996	18	37	0	55	0	0	0	0	0	55	5
PRG4	10216	broad.mit.edu	37	1	186275466	186275466	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186275466G>T	ENST00000445192.2	+	7	660	c.615G>T	c.(613-615)aaG>aaT	p.K205N	PRG4_ENST00000367483.4_Missense_Mutation_p.K164N|PRG4_ENST00000367484.3_Missense_Mutation_p.K164N|PRG4_ENST00000367485.4_Missense_Mutation_p.K112N|PRG4_ENST00000367486.3_Missense_Mutation_p.K162N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	49	97	0	128	205					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ATAACAAGAAGAACAGAACTA	0.343000													1	1	1	1	0	1	1.000000	51	100	0	134	0	0	0	0	0	134	4
TPR	7175	broad.mit.edu	37	1	186321228	186321228	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186321228A>C	ENST00000367478.3	-	19	2645	c.2349T>G	c.(2347-2349)aaT>aaG	p.N783K	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	6	44	0	31	783					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			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		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)		CCTTCTTCAAATTTTCTGCTC	0.308000			T	NTRK1	papillary thyroid								1	1	1	1	0	1	0.968138	6	45	0	32	1	6.651967e-01	4	14	0	32	4
OCLM	10896	broad.mit.edu	37	1	186370207	186370207	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186370207G>T	ENST00000574641.1	+	1	504	c.30G>T	c.(28-30)aaG>aaT	p.K10N	C1orf27_ENST00000419367.3_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000287859.6_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	31	54	0	105	10					visual perception												TATTGTTAAAGATTTACCTTA	0.338000													1	1	1	1	1	1	1.000000	37	59	0	124	0	0	0	0	0	124	5
PDC	5132	broad.mit.edu	37	1	186415580	186415580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:186415580G>T	ENST00000391997.2	-	3	278	c.191C>A	c.(190-192)tCa>tAa	p.S64*	PDC_ENST00000340129.5_Nonsense_Mutation_p.S64*|PDC_ENST00000456239.2_Nonsense_Mutation_p.S12*|PDC_ENST00000497198.1_Nonsense_Mutation_p.S12*	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	18	27	0	44	64					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TCGTTCCTTTGAATCTTTGCC	0.338000													1	1	1	1	1	1	0.999996	18	31	0	47	0	0	0	0	0	47	5
FAM5C	0	broad.mit.edu	37	1	190129925	190129925	+	Missense_Mutation	SNP	G	G	A	rs147790033		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:190129925G>A	ENST00000367462.3	-	7	1288	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R251C	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		46	44	0	80	353						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCATAACGGCGCTGAAAATTA	0.353000													1	1	1	1	1	1	1.000000	51	50	0	91	0	0	0	1	0	91	5
UCHL5	51377	broad.mit.edu	37	1	192993056	192993056	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:192993056C>T	ENST00000367452.4	-	8	1048	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	UCHL5_ENST00000367449.1_Missense_Mutation_p.R217Q|UCHL5_ENST00000530098.2_Missense_Mutation_p.R93Q|UCHL5_ENST00000367451.4_Missense_Mutation_p.R244Q|UCHL5_ENST00000367455.3_Missense_Mutation_p.R217Q|UCHL5_ENST00000367448.1_Missense_Mutation_p.R217Q|UCHL5_ENST00000367454.1_Missense_Mutation_p.R217Q			Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	8	18	0	28	217					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			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						TAAATTAAATCGAATTTCACC	0.333000													1	1	1	1	1	1	0.996859	9	18	0	31	1	9.998504e-01	25	21	0	31	5
TROVE2	6738	broad.mit.edu	37	1	193053858	193053858	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:193053858T>G	ENST00000432079.1	+	8	1357	c.789T>G	c.(787-789)atT>atG	p.I263M	TROVE2_ENST00000400968.2_Missense_Mutation_p.I538M|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367441.1_Missense_Mutation_p.I538M|TROVE2_ENST00000367444.3_Intron|TROVE2_ENST00000367446.3_Missense_Mutation_p.I538M|TROVE2_ENST00000367443.1_Intron|TROVE2_ENST00000416058.2_Missense_Mutation_p.I263M|TROVE2_ENST00000367445.3_Intron			P10155	RO60_HUMAN	TROVE domain family, member 2	10	43	0	54	538	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TAGATATGATTTAACCATAAG	0.418000													1	1	1	1	1	1	0.998859	11	50	0	56	1	7.125580e-01	3	10	0	56	5
CDC73	79577	broad.mit.edu	37	1	193119493	193119493	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:193119493A>C	ENST00000367435.3	+	9	1072	c.888A>C	c.(886-888)gaA>gaC	p.E296D		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	10	26	0	40	296					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						ACGATCAGGAAAGATTCAAAG	0.383000													1	1	1	1	1	1	0.999078	11	31	0	47	1	9.999874e-01	35	43	0	47	5
CFHR5	81494	broad.mit.edu	37	1	196977765	196977765	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:196977765T>G	ENST00000367414.5	+	10	1790	c.1734T>G	c.(1732-1734)ttT>ttG	p.F578L	CFHR5_ENST00000256785.4_Missense_Mutation_p.F554L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	20	44	0	68	554					complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CACCACCATTTCGAGCAATCT	0.353000													1	1	1	1	1	1	1.000000	22	49	0	79	0	0	0	0	0	79	5
F13B	2165	broad.mit.edu	37	1	197008508	197008508	+	Nonstop_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197008508C>A	ENST00000367412.1	-	12	2029	c.1986G>T	c.(1984-1986)taG>taT	p.*662Y		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	10	123	0	153	0					blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CCATTCATTTCTATGTTCTTA	0.313000													1	0	1	1	0	1	0.999242	12	139	0	184	0	0	0	0	0	184	3
ASPM	259266	broad.mit.edu	37	1	197073886	197073886	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197073886G>A	ENST00000367409.4	-	18	4751	c.4495C>T	c.(4495-4497)Cgg>Tgg	p.R1499W	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	12	23	0	32	1499					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAAGCACCGAAATCTTTTC	0.313000													1	1	1	1	1	1	0.999615	12	26	0	33	0	0	1	0	0	33	5
ASPM	259266	broad.mit.edu	37	1	197099114	197099114	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197099114G>A	ENST00000367409.4	-	8	2816	c.2560C>T	c.(2560-2562)Cgc>Tgc	p.R854C	ASPM_ENST00000367408.1_Missense_Mutation_p.R104C|ASPM_ENST00000294732.7_Missense_Mutation_p.R854C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	32	51	0	89	854					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CAAAGTAGGCGATTCAGAATA	0.403000													1	1	1	1	1	1	1.000000	34	61	0	107	1	4.554559e-01	2	2	0	107	5
ASPM	259266	broad.mit.edu	37	1	197111684	197111684	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197111684C>T	ENST00000367409.4	-	3	1954	c.1698G>A	c.(1696-1698)tcG>tcA	p.S566S	ASPM_ENST00000294732.7_Silent_p.S566S	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	20	50	0	71	566					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAGCTGTTGTCGAAGAGGGTG	0.348000													1	1	1	1	1	1	0.999999	20	51	0	74	0	0	0	1	0	74	5
ZBTB41	360023	broad.mit.edu	37	1	197128599	197128599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197128599G>A	ENST00000367405.4	-	10	2688	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	38	98	0	182	874					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGTTCAGGTCGAACTGGGTGA	0.408000													1	1	1	1	1	1	1.000000	39	110	0	199	0	1.751310e-01	0	3	0	199	5
CRB1	23418	broad.mit.edu	37	1	197390754	197390754	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197390754T>C	ENST00000367400.3	+	6	1931	c.1796T>C	c.(1795-1797)cTt>cCt	p.L599P	CRB1_ENST00000535699.1_Missense_Mutation_p.L530P|CRB1_ENST00000544212.1_Missense_Mutation_p.L80P|CRB1_ENST00000538660.1_Missense_Mutation_p.L599P|CRB1_ENST00000367399.2_Missense_Mutation_p.L487P|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367397.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	27	72	0	107	599	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			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCTACTCCACTTGAAAGTGAT	0.438000													1	1	1	1	1	1	1.000000	29	73	0	110	0	0	0	0	0	110	5
CRB1	23418	broad.mit.edu	37	1	197446978	197446978	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197446978T>C	ENST00000367400.3	+	12	4325	c.4190T>C	c.(4189-4191)aTg>aCg	p.M1397T	CRB1_ENST00000535699.1_Missense_Mutation_p.M1373T|CRB1_ENST00000544212.1_Missense_Mutation_p.M878T|CRB1_ENST00000538660.1_Missense_Mutation_p.M861T|CRB1_ENST00000367399.2_Missense_Mutation_p.M1285T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	26	41	0	98	1397					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGGAACTTGATGCCACCCCCT	0.522000													1	1	1	1	1	1	1.000000	27	44	0	113	0	0	0	0	0	113	5
DENND1B	163486	broad.mit.edu	37	1	197704925	197704925	+	Translation_Start_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:197704925C>A	ENST00000235453.4	-	0	120				DENND1B_ENST00000367396.3_Intron|DENND1B_ENST00000477581.1_5'UTR			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	9	23	0	21							clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						CTGGACTGTCCTCTACAGAAA	0.468000													1	0	1	1	0	1	0.996410	9	24	0	21	0	2.052767e-01	1	2	0	21	3
NEK7	140609	broad.mit.edu	37	1	198231762	198231762	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:198231762C>A	ENST00000367385.4	+	4	598	c.256C>A	c.(256-258)Ctt>Att	p.L86I	NEK7_ENST00000538004.1_Missense_Mutation_p.L86I	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	20	41	0	62	86	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						AATAGATCTTCTTAAGGTAAT	0.279000													1	1	1	1	1	1	1.000000	24	46	0	67	1	9.688040e-01	8	6	0	67	5
PTPRC	5788	broad.mit.edu	37	1	198682092	198682092	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:198682092G>A	ENST00000367376.2	+	12	1347	c.1176G>A	c.(1174-1176)gaG>gaA	p.E392E	PTPRC_ENST00000594404.1_Silent_p.E231E|PTPRC_ENST00000348564.6_Silent_p.E233E|PTPRC_ENST00000352140.3_Silent_p.E344E|PTPRC_ENST00000442510.2_Silent_p.E394E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	16	39	0	46	392	Fibronectin type-III 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(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GTCCAGGAGAGCCTCAGATTA	0.318000													1	1	1	1	1	1	0.999988	17	45	0	51	0	1.968094e-01	0	3	0	51	5
NR5A2	2494	broad.mit.edu	37	1	200017907	200017907	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:200017907C>T	ENST00000367362.3	+	5	1317	c.1071C>T	c.(1069-1071)gtC>gtT	p.V357V	NR5A2_ENST00000236914.3_Silent_p.V311V|NR5A2_ENST00000544748.1_Silent_p.V285V	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	43	82	0	117	357	Ligand-binding.				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			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TCTCCATTGTCGAGTGGGCCA	0.458000													1	1	1	1	1	1	1.000000	46	90	0	126	1	8.088435e-01	4	4	0	126	5
CACNA1S	779	broad.mit.edu	37	1	201046078	201046078	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:201046078G>A	ENST00000362061.3	-	12	2023	c.1797C>T	c.(1795-1797)aaC>aaT	p.N599N	CACNA1S_ENST00000367338.3_Silent_p.N599N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	40	95	0	157	599					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTTGGGGAAAGTTGTCAAAGT	0.532000													1	1	1	1	1	1	1.000000	43	113	0	175	0	0	0	0	0	175	5
IGFN1	91156	broad.mit.edu	37	1	201185815	201185815	+	Missense_Mutation	SNP	C	C	T	rs35669472		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:201185815C>T	ENST00000335211.4	+	16	9659	c.9529C>T	c.(9529-9531)Cgg>Tgg	p.R3177W	IGFN1_ENST00000295591.8_Missense_Mutation_p.R337W	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1	26	59	0	108									p.R3177W(2)|p.R337W(2)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTCCGAGTGCGGGCTGTGAC	0.647000													1	1	1	1	1	1	1.000000	30	71	0	122	1	5.768012e-01	2	4	0	122	5
SHISA4	149345	broad.mit.edu	37	1	201860581	201860581	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:201860581C>A	ENST00000362011.6	+	4	719	c.432C>A	c.(430-432)ccC>ccA	p.P144P	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	62	81	0	126	144	Pro-rich.					integral to membrane				kidney(1)|lung(4)	5						ACCCATACCCCCAGGACCCCA	0.587000													1	1	1	1	1	1	1.000000	64	85	0	138	1	1	27	38	0	138	5
LGR6	59352	broad.mit.edu	37	1	202278292	202278292	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:202278292T>C	ENST00000367278.3	+	15	1483	c.1394T>C	c.(1393-1395)tTc>tCc	p.F465S	LGR6_ENST00000439764.2_Missense_Mutation_p.F326S|LGR6_ENST00000255432.7_Missense_Mutation_p.F413S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	25	43	0	71	465						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AAGGACAGTTTCCCAAAACTG	0.587000													1	1	1	1	1	1	1.000000	29	47	0	80	0	1.509250e-01	1	1	0	80	5
KDM5B	10765	broad.mit.edu	37	1	202711856	202711856	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:202711856G>A	ENST00000367265.3	-	17	3565	c.2401C>T	c.(2401-2403)Cgc>Tgc	p.R801C	KDM5B_ENST00000367264.2_Missense_Mutation_p.R837C	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	38	79	0	93	801					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			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GTGACTAGGCGAAGGTGTCGC	0.443000													1	1	1	1	1	1	1.000000	41	85	0	97	1	1	37	29	0	97	5
TMEM183A	92703	broad.mit.edu	37	1	202985262	202985262	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:202985262T>G	ENST00000367242.3	+	5	782	c.702T>G	c.(700-702)aaT>aaG	p.N234K	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			transmembrane protein 183A	49	68	0	111											endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			CATTAAAGAATTCCAAAGTAA	0.458000													1	1	1	1	1	1	1.000000	50	69	0	106	1	7.923099e-01	3	3	0	106	5
CHIT1	1118	broad.mit.edu	37	1	203188819	203188819	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203188819C>A	ENST00000367229.1	-	8	922	c.888G>T	c.(886-888)aaG>aaT	p.K296N	CHIT1_ENST00000255427.3_Missense_Mutation_p.K277N|CHIT1_ENST00000535569.1_Missense_Mutation_p.K287N|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	24	49	0	101	296					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCCCTCCTTCCTTGGTGAAGG	0.587000													1	1	1	1	1	1	1.000000	24	56	0	115	0	0	0	1	0	115	5
ATP2B4	493	broad.mit.edu	37	1	203691694	203691694	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203691694C>T	ENST00000357681.5	+	18	4024	c.2901C>T	c.(2899-2901)ttC>ttT	p.F967F	ATP2B4_ENST00000341360.2_Silent_p.F967F|ATP2B4_ENST00000367218.3_Silent_p.F967F|ATP2B4_ENST00000367219.3_Silent_p.F955F|ATP2B4_ENST00000391954.2_Silent_p.F967F	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	25	58	0	83	967					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTAACACCTTCGTGCTGATGC	0.448000													1	1	1	1	1	1	1.000000	28	62	0	94	1	9.181630e-01	3	9	0	94	5
ZC3H11A	9877	broad.mit.edu	37	1	203799314	203799314	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203799314A>C	ENST00000545588.1	+	7	4510	c.683A>C	c.(682-684)aAa>aCa	p.K228T	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.K228T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.K228T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.K228T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.K228T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	38	62	0	67	228							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGAAGGAAAAATCTAAGAAG	0.348000													1	1	1	1	1	1	1.000000	42	70	0	73	1	1	25	52	0	73	5
ZC3H11A	9877	broad.mit.edu	37	1	203821496	203821496	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203821496T>C	ENST00000545588.1	+	17	6229	c.2402T>C	c.(2401-2403)cTg>cCg	p.L801P	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.L801P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.L801P	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	5	36	0	45	801							nucleic acid binding|protein binding|zinc ion binding	p.L801P(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGACCTTCTGCTTGAGCTA	0.388000													0	0	1	0	1	1	0.941496	5	38	0	49	0	9.968722e-01	0	102	0	49	2
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:203821508C>G	ENST00000545588.1	+	17	6241	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	5	35	0	41	805							nucleic acid binding|protein binding|zinc ion binding	p.S805*(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378000													0	0	1	0	1	1	0.941401	5	39	0	46	0	9.894773e-01	0	76	0	46	2
PPP1R15B	84919	broad.mit.edu	37	1	204379610	204379610	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:204379610C>T	ENST00000367188.4	-	1	1309	c.930G>A	c.(928-930)ggG>ggA	p.G310G	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	27	191	0	189	310					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	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)			GTAAATCTTGCCCCTTGTTAG	0.522000													1	1	1	1	1	1	1.000000	27	204	0	204	1	8.754338e-01	6	22	0	204	5
PIK3C2B	5287	broad.mit.edu	37	1	204438067	204438067	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:204438067G>T	ENST00000367187.3	-	3	1420	c.864C>A	c.(862-864)acC>acA	p.T288T	PIK3C2B_ENST00000424712.2_Silent_p.T288T	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	47	96	0	111	288	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			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	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)			GGGAGGCATAGGTGCGGGGGG	0.617000													1	1	1	1	1	1	1.000000	49	99	0	116	1	4.074010e-01	2	2	0	116	5
SLC45A3	85414	broad.mit.edu	37	1	205632665	205632665	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:205632665C>T	ENST00000367145.3	-	3	549	c.254G>A	c.(253-255)cGc>cAc	p.R85H		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	12	35	0	73	85					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GAAGGGCCGGCGGCGGCCATA	0.647000			T	ETV1, ETV5, ELK4, ERG	prostate								1	1	1	1	1	1	0.999772	13	37	0	82	1	9.533279e-01	9	9	0	82	5
C4BPA	722	broad.mit.edu	37	1	207297270	207297270	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:207297270T>G	ENST00000367070.3	+	5	626	c.432T>G	c.(430-432)ttT>ttG	p.F144L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	8	7	0	17	144	Sushi 2.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TATTCAGATTTTTCTTAATTG	0.343000													1	0	1	1	1	1	0.995259	8	9	0	20	1	9.972224e-01	3	16	0	20	4
CD55	1604	broad.mit.edu	37	1	207495831	207495831	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:207495831T>G	ENST00000367064.3	+	2	463	c.205T>G	c.(205-207)Ttt>Gtt	p.F69V	CD55_ENST00000367065.5_Missense_Mutation_p.F69V|CD55_ENST00000367062.4_Missense_Mutation_p.F69V|CD55_ENST00000391921.4_Missense_Mutation_p.F69V|CD55_ENST00000314754.8_Missense_Mutation_p.F69V|CD55_ENST00000367063.2_Missense_Mutation_p.F69V|CD55_ENST00000367067.4_Missense_Mutation_p.F69V|CD55_ENST00000391920.4_Missense_Mutation_p.F69V	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	11	49	0	53	69	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			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TGAAGAAAGCTTTGTGAAAAT	0.448000													1	1	1	1	1	1	0.999425	12	53	0	55	1	9.999999e-01	31	160	0	55	5
CR2	1380	broad.mit.edu	37	1	207648459	207648459	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:207648459T>C	ENST00000367057.3	+	14	2803	c.2614T>C	c.(2614-2616)Tat>Cat	p.Y872H	CR2_ENST00000367059.3_Missense_Mutation_p.Y813H|CR2_ENST00000367058.3_Missense_Mutation_p.Y813H|CR2_ENST00000458541.2_Missense_Mutation_p.Y786H	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	40	53	0	92	938	Sushi 14.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGACATAGTGTATGTTGACTG	0.438000													1	1	1	1	1	1	1.000000	43	55	0	104	0	1.960396e-01	1	1	0	104	5
PLXNA2	5362	broad.mit.edu	37	1	208269408	208269408	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:208269408C>T	ENST00000367033.3	-	8	2705	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	115	254	0	374	650					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AACTTGAACTCGGTGCTGACA	0.483000													1	1	1	1	1	1	1.000000	128	291	0	431	0	3.597967e-01	1	3	0	431	5
LAMB3	3914	broad.mit.edu	37	1	209799080	209799080	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209799080T>G	ENST00000391911.1	-	13	2278	c.1889A>C	c.(1888-1890)aAg>aCg	p.K630T	LAMB3_ENST00000367030.3_Missense_Mutation_p.K630T|LAMB3_ENST00000356082.4_Missense_Mutation_p.K630T	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	31	65	0	102	630	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTGCTCAATCTTACTCTTTGC	0.612000													1	1	1	1	1	1	1.000000	33	74	0	108	1	1	111	89	0	108	5
LAMB3	3914	broad.mit.edu	37	1	209803245	209803245	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209803245C>A	ENST00000391911.1	-	9	1358	c.969G>T	c.(967-969)gaG>gaT	p.E323D	LAMB3_ENST00000367030.3_Missense_Mutation_p.E323D|LAMB3_ENST00000356082.4_Missense_Mutation_p.E323D	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	29	57	0	109	323	Laminin EGF-like 2.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.E323D(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGTGACATGTCTCTGAGTGCC	0.557000													1	1	1	1	1	1	1.000000	32	60	0	121	1	1	85	79	0	121	5
TRAF3IP3	80342	broad.mit.edu	37	1	209933532	209933532	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209933532A>G	ENST00000367024.1	+	3	664	c.148A>G	c.(148-150)Agg>Ggg	p.R50G	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R50G|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R50G			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	14	31	1	62	50						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GAAGACGCTGAGGATCCAACA	0.597000													1	0	1	1	1	1	0.998380	16	36	1	68	0	1.030303e-01	0	2	1	68	4
IRF6	3664	broad.mit.edu	37	1	209974599	209974599	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:209974599T>G	ENST00000367021.3	-	3	332	c.160A>C	c.(160-162)Aat>Cat	p.N54H	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	38	67	0	94	54					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			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AAAATGGTATTTTCCTCTTCT	0.428000										HNSCC(57;0.16)			1	1	1	1	1	1	1.000000	41	73	0	109	0	6.969736e-01	1	5	0	109	5
SYT14	255928	broad.mit.edu	37	1	210187141	210187141	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:210187141T>G	ENST00000537238.1	+	4	502	c.112_splice	c.e4+1	p.I37_splice	SYT14_ENST00000399639.2_Splice_Site_p.I75_splice|SYT14_ENST00000422431.1_Splice_Site_p.I120_splice|SYT14_ENST00000534859.1_Splice_Site_p.I75_splice|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Splice_Site_p.I75_splice|SYT14_ENST00000367015.1_Splice_Site_p.I37_splice|SYT14_ENST00000472886.1_Splice_Site_p.I75_splice	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	6	57	0	78	75						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAGATAAAATTTGTAAGTATC	0.294000													1	1	1	1	0	1	0.982577	7	60	0	83	0	0	0	0	0	83	4
SYT14	255928	broad.mit.edu	37	1	210267762	210267762	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:210267762A>G	ENST00000537238.1	+	6	815	c.424A>G	c.(424-426)Aca>Gca	p.T142A	SYT14_ENST00000399639.2_Missense_Mutation_p.T180A|SYT14_ENST00000422431.1_Missense_Mutation_p.T225A|SYT14_ENST00000534859.1_Missense_Mutation_p.T180A|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.T180A|SYT14_ENST00000367015.1_Missense_Mutation_p.T142A|SYT14_ENST00000472886.1_Missense_Mutation_p.T180A	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	21	44	0	54	180						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCTGTCATGTACACCCTCAGA	0.473000													1	1	1	1	1	1	1.000000	22	44	0	56	0	0	0	0	0	56	5
NEK2	4751	broad.mit.edu	37	1	211847747	211847747	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:211847747G>A	ENST00000366999.4	-	2	343	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	NEK2_ENST00000540251.1_Missense_Mutation_p.R26C|NEK2_ENST00000366998.3_Missense_Mutation_p.R69C	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	12	21	0	33	69	Protein kinase.				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)		TCATAGTAACGAACGATGTTT	0.403000													1	1	1	1	1	1	0.999934	14	22	0	35	1	9.726607e-01	12	1	0	35	5
ATF3	467	broad.mit.edu	37	1	212792760	212792760	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:212792760A>C	ENST00000341491.4	+	4	674	c.409A>C	c.(409-411)Aac>Cac	p.N137H	ATF3_ENST00000366985.1_Missense_Mutation_p.N80H|ATF3_ENST00000492118.1_3'UTR|ATF3_ENST00000366987.2_Missense_Mutation_p.N137H|ATF3_ENST00000366983.1_3'UTR	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	40	65	0	88	137	Leucine-zipper.					nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)		GGAGCTCAAGAACGAGAAGCA	0.502000													1	1	1	1	1	1	1.000000	40	70	0	92	1	9.999038e-01	13	17	0	92	5
FLVCR1	28982	broad.mit.edu	37	1	213062579	213062579	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:213062579T>G	ENST00000366971.4	+	8	1703	c.1505T>G	c.(1504-1506)tTt>tGt	p.F502C	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	11	49	0	63	502					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		GTCTGGATGTTTATAGGCATC	0.368000													1	1	1	1	1	1	0.999417	12	55	0	71	1	3.885491e-01	3	4	0	71	5
RPS6KC1	26750	broad.mit.edu	37	1	213414614	213414614	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:213414614G>T	ENST00000366960.3	+	11	1945	c.1795G>T	c.(1795-1797)Gaa>Taa	p.E599*	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.E587*|RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.E387*|RPS6KC1_ENST00000543354.1_Nonsense_Mutation_p.E302*	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	17	27	0	50	599					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TAGCCCCATGGAATTCTTTAG	0.418000													1	1	1	1	1	1	0.999997	18	28	0	53	1	8.702114e-01	5	3	0	53	5
PROX1	5629	broad.mit.edu	37	1	214171528	214171528	+	Silent	SNP	C	C	A	rs35176368		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:214171528C>A	ENST00000366958.4	+	2	2258	c.1650C>A	c.(1648-1650)ctC>ctA	p.L550L	PROX1_ENST00000435016.1_Silent_p.L550L|PROX1_ENST00000498508.2_Silent_p.L550L|PROX1_ENST00000261454.4_Silent_p.L550L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	38	83	0	138	550					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			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCGAAGGGCTCTCCTTGTCGC	0.517000													1	1	1	1	1	1	1.000000	44	88	0	146	1	8.010143e-01	5	3	0	146	5
CENPF	1063	broad.mit.edu	37	1	214814274	214814274	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:214814274G>T	ENST00000366955.3	+	12	2761	c.2593G>T	c.(2593-2595)Gaa>Taa	p.E865*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	10	21	0	49	865					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			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAAATAGAAGAAAATCTCAT	0.383000													1	0	0	1	0	1	0.998417	10	21	0	52	0	2.655462e-01	1	2	0	52	2
KCTD3	51133	broad.mit.edu	37	1	215751415	215751415	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:215751415C>T	ENST00000259154.4	+	6	682	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	8	60	0	68	130						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TGGTTACTTGCCCCCACCAGG	0.343000													1	1	1	1	1	1	0.995184	9	66	0	73	1	7.978123e-01	5	19	0	73	5
KCTD3	51133	broad.mit.edu	37	1	215793542	215793542	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:215793542A>C	ENST00000259154.4	+	18	2324	c.2030A>C	c.(2029-2031)aAc>aCc	p.N677T	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	26	28	0	71	677						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATTAATTTGAACAGAAATGTA	0.418000													1	1	1	1	1	1	1.000000	26	29	0	76	1	1	38	31	0	76	5
USH2A	7399	broad.mit.edu	37	1	215802207	215802207	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:215802207G>T	ENST00000366943.2	-	72	15926	c.15540C>A	c.(15538-15540)gtC>gtA	p.V5180V	USH2A_ENST00000307340.3_Silent_p.V5156V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	33	51	0	95	5156					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTCCATCAAGACTTTCTTGT	0.502000										HNSCC(13;0.011)			1	1	1	1	1	1	1.000000	38	53	0	97	0	0	0	0	0	97	5
ESRRG	2104	broad.mit.edu	37	1	216680421	216680421	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:216680421G>A	ENST00000391890.3	-	9	1706	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	ESRRG_ENST00000493603.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000408911.3_Nonsense_Mutation_p.R413*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.R425*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000463665.1_Nonsense_Mutation_p.R351*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.R390*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.R390*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.R390*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.R390*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.R390*	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	18	34	0	71	413					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			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TTGCCAGCTCGACGAGGGTCT	0.502000													1	1	1	1	1	1	0.999998	19	36	0	76	0	0	0	0	0	76	5
RRP15	51018	broad.mit.edu	37	1	218475894	218475894	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:218475894T>G	ENST00000366932.3	+	2	428	c.398T>G	c.(397-399)aTa>aGa	p.I133R	RRP15_ENST00000491428.1_3'UTR	NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	8	110	0	80	133						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		CTAGAGAAAATAAAACAGGTA	0.348000													1	0	1	1	0	1	0.994750	9	121	0	88	1	9.289966e-01	8	57	0	88	3
EPRS	2058	broad.mit.edu	37	1	220156693	220156693	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:220156693A>G	ENST00000366923.3	-	22	3407	c.3138T>C	c.(3136-3138)tgT>tgC	p.C1046C		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	13	28	0	43	1046	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			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GAAGAATATAACAGCCACTTA	0.368000													1	1	0	1	1	1	0.999957	15	30	0	46	1	1	62	85	0	46	4
RAB3GAP2	25782	broad.mit.edu	37	1	220386308	220386308	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:220386308T>C	ENST00000358951.2	-	4	423	c.307A>G	c.(307-309)Aaa>Gaa	p.K103E		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	14	14	0	21	103					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TATTTCCATTTTGCTGTAAGA	0.299000													1	1	1	1	1	1	0.999979	15	17	0	22	0	0	0	0	0	22	5
DUSP10	11221	broad.mit.edu	37	1	221879708	221879708	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:221879708C>T	ENST00000366899.3	-	3	1150	c.912G>A	c.(910-912)tcG>tcA	p.S304S	DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	50	98	0	139	304					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			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GTAGCAAGCTCGAGGCCGCGG	0.592000													1	1	1	1	1	1	1.000000	50	102	0	148	1	9.999774e-01	18	20	0	148	5
HHIPL2	79802	broad.mit.edu	37	1	222696106	222696106	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:222696106G>T	ENST00000343410.6	-	9	2070	c.2012C>A	c.(2011-2013)tCt>tAt	p.S671Y	HHIPL2_ENST00000473144.1_5'UTR	NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	88	165	0	223	671					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCTTGTAGGAGAAGCCAGCTT	0.532000													1	1	1	1	1	1	1.000000	91	177	0	241	0	0	0	1	0	241	5
DISP1	84976	broad.mit.edu	37	1	223177256	223177256	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:223177256C>A	ENST00000284476.6	+	8	2681	c.2517C>A	c.(2515-2517)ttC>ttA	p.F839L		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	15	45	0	59	839					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCAAACATTCTTTTACCAGA	0.453000													1	1	1	1	1	1	0.999972	16	47	0	61	0	4.879358e-01	1	5	0	61	5
TLR5	7100	broad.mit.edu	37	1	223285114	223285114	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:223285114C>A	ENST00000540964.1	-	4	1721	c.1260G>T	c.(1258-1260)aaG>aaT	p.K420N	TLR5_ENST00000342210.6_Missense_Mutation_p.K420N			O60602	TLR5_HUMAN	toll-like receptor 5	29	62	0	77	420			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			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TAAGGTTGATCTTTGGCAAAG	0.408000													1	1	1	1	1	1	1.000000	30	65	0	83	1	2.434953e-01	2	1	0	83	5
SUSD4	55061	broad.mit.edu	37	1	223402693	223402693	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:223402693G>T	ENST00000343846.3	-	5	1395	c.762C>A	c.(760-762)ttC>ttA	p.F254L	SUSD4_ENST00000454695.2_Missense_Mutation_p.F94L|SUSD4_ENST00000366878.4_Missense_Mutation_p.F254L|SUSD4_ENST00000478605.1_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	20	24	0	37	254	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GGTGGCAGACGAAATCTCCGT	0.527000													1	1	1	1	1	1	1.000000	20	27	0	43	1	9.856599e-01	8	5	0	43	5
DEGS1	8560	broad.mit.edu	37	1	224377638	224377638	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:224377638T>G	ENST00000323699.4	+	2	608	c.442T>G	c.(442-444)Ttt>Gtt	p.F148V	DEGS1_ENST00000391877.3_Missense_Mutation_p.F148V|DEGS1_ENST00000465848.1_3'UTR	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	16	114	0	112	148					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		TCCTACCGATTTTGAGGGCTG	0.428000													1	1	1	1	1	1	0.999976	17	123	0	131	1	9.999998e-01	41	181	0	131	5
NVL	4931	broad.mit.edu	37	1	224482015	224482015	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:224482015C>T	ENST00000281701.6	-	12	1538	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	NVL_ENST00000340871.4_Missense_Mutation_p.D238N|NVL_ENST00000469075.1_Missense_Mutation_p.D336N|NVL_ENST00000361463.3_Missense_Mutation_p.D321N|NVL_ENST00000482491.1_Missense_Mutation_p.D151N|NVL_ENST00000391875.2_Missense_Mutation_p.D321N	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	20	47	0	73	427						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ATTTCTCGGTCGAACCTTCCC	0.453000													1	1	1	1	1	1	0.999999	21	53	0	80	1	9.997069e-01	22	17	0	80	5
ITPKB	3707	broad.mit.edu	37	1	226924334	226924334	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:226924334C>A	ENST00000429204.1	-	2	1153	c.826G>T	c.(826-828)Gac>Tac	p.D276Y	ITPKB_ENST00000366784.1_Missense_Mutation_p.D276Y|ITPKB_ENST00000272117.3_Missense_Mutation_p.D276Y	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	27	47	0	94	276							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCCCTTTTGTCAATTTCCATA	0.587000													1	1	1	1	1	1	1.000000	28	48	0	102	0	3.141431e-01	0	3	0	102	5
WNT9A	7483	broad.mit.edu	37	1	228111950	228111950	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:228111950G>A	ENST00000272164.5	-	3	514	c.504C>T	c.(502-504)tgC>tgT	p.C168C	WNT9A_ENST00000497852.1_Intron	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	73	107	1	185	168					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				GGTTGTCTCCGCAGCCCCCCC	0.627000													1	0	1	1	1	1	1.000000	84	118	1	210	1	6.885638e-01	3	2	1	210	4
URB2	9816	broad.mit.edu	37	1	229773496	229773496	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:229773496G>A	ENST00000258243.2	+	4	3272	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	22	38	0	50	1046						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAAACAATTAGAAAATCAGAA	0.483000													1	1	1	1	1	1	1.000000	24	42	0	51	1	9.980858e-01	8	14	0	51	5
CAPN9	10753	broad.mit.edu	37	1	230891101	230891101	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:230891101G>T	ENST00000354537.1	+	2	314	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Nonsense_Mutation_p.E78*|CAPN9_ENST00000366666.2_Intron	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	15	43	0	71	78	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				GAAAAACCCAGAATTCATTCT	0.537000													1	1	1	1	1	1	0.999987	17	49	0	84	0	0	0	1	0	84	5
CAPN9	10753	broad.mit.edu	37	1	230907779	230907779	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:230907779G>A	ENST00000354537.1	+	7	891	c.809G>A	c.(808-810)aGa>aAa	p.R270K	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.R270K|CAPN9_ENST00000366666.2_Missense_Mutation_p.R207K	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	10	68	0	112	270	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CGAGGCCAGAGAATCGAGCTC	0.537000													1	1	1	1	1	1	0.998697	11	77	0	128	0	0	0	0	0	128	5
CAPN9	10753	broad.mit.edu	37	1	230928177	230928177	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:230928177C>T	ENST00000354537.1	+	15	1732	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	RP11-99J16__A.2_ENST00000412344.1_RNA|RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000271971.2_Silent_p.S576S|CAPN9_ENST00000366666.2_Silent_p.S513S|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000452640.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	35	96	0	134	576	Domain IV.|EF-hand 1.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CACAGACCAGCGGCAATGGGA	0.562000													1	1	1	1	1	1	1.000000	36	103	0	150	0	0	0	0	0	150	5
TTC13	79573	broad.mit.edu	37	1	231061365	231061365	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:231061365A>C	ENST00000366661.4	-	13	1493	c.1486T>G	c.(1486-1488)Tat>Gat	p.Y496D	TTC13_ENST00000366662.4_Missense_Mutation_p.Y443D|TTC13_ENST00000414259.1_Missense_Mutation_p.Y443D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	31	54	1	76	496							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCAGGCTTATAACTCTCAAAA	0.403000													1	0	1	1	1	1	1.000000	35	58	1	83	1	9.005757e-01	4	5	1	83	4
SIPA1L2	57568	broad.mit.edu	37	1	232619691	232619691	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:232619691C>T	ENST00000366630.1	-	5	2186	c.1828G>A	c.(1828-1830)Ggg>Agg	p.G610R	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G610R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	6	60	0	50	610	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TAAAGGATCCCGATCTTGTGC	0.428000													1	0	1	1	0	1	0.966980	6	72	0	54	0	3.750164e-01	1	14	0	54	3
SIPA1L2	57568	broad.mit.edu	37	1	232649870	232649870	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:232649870C>T	ENST00000366630.1	-	2	1574	c.1216G>A	c.(1216-1218)Gtc>Atc	p.V406I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V406I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	58	130	0	224	406					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAACTAAGGACGAGGTCGTTA	0.527000													1	1	1	1	1	1	1.000000	60	152	0	255	1	7.702971e-01	6	3	0	255	5
MLK4	0	broad.mit.edu	37	1	233498022	233498022	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:233498022G>A	ENST00000366624.3	+	5	1796	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	MLK4_ENST00000366623.3_Missense_Mutation_p.R512Q	NM_032435.2	NP_115811.2				7	60	0	53																		GATGGACATCGAATCAGTTTA	0.363000													1	0	1	1	0	1	0.990707	8	67	0	57	1	2.414920e-01	3	5	0	57	3
LYST	1130	broad.mit.edu	37	1	235878565	235878565	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:235878565G>A	ENST00000389794.3	-	42	9894	c.9720C>T	c.(9718-9720)agC>agT	p.S3240S	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.S3240S			Q99698	LYST_HUMAN	lysosomal trafficking regulator	24	37	0	93	3240	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			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	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)			GCACAGTGCCGCTATTGGAAT	0.463000													1	1	1	1	1	1	1.000000	26	40	0	109	0	1.611253e-01	0	2	0	109	5
LYST	1130	broad.mit.edu	37	1	235972297	235972297	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:235972297A>G	ENST00000389794.3	-	5	1995	c.1821T>C	c.(1819-1821)ttT>ttC	p.F607F	LYST_ENST00000389793.2_Silent_p.F607F|LYST_ENST00000536965.1_Silent_p.F607F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	37	71	0	106	607					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			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	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)			TATGCTGCTGAAAATTTTTCA	0.333000													1	1	1	1	1	1	1.000000	37	76	0	112	0	0	0	0	0	112	5
HEATR1	55127	broad.mit.edu	37	1	236734928	236734928	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:236734928G>T	ENST00000366582.3	-	27	3880	c.3766C>A	c.(3766-3768)Ctt>Att	p.L1256I	HEATR1_ENST00000366581.2_Missense_Mutation_p.L1175I	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	8	22	0	46	1256					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGACAACTAAGAATTAATTGT	0.373000													1	1	1	1	1	1	0.992589	8	24	0	48	1	9.271630e-01	6	11	0	48	5
HEATR1	55127	broad.mit.edu	37	1	236750718	236750718	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:236750718A>C	ENST00000366582.3	-	14	1813	c.1699T>G	c.(1699-1701)Tca>Gca	p.S567A	HEATR1_ENST00000366581.2_Missense_Mutation_p.S567A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	7	12	0	7	567					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CCATTCTTTGAAAGTTCTGCT	0.294000													0	1	0	0	0	1	0.987544	7	13	0	8	1	5.802980e-01	2	3	0	8	1
HEATR1	55127	broad.mit.edu	37	1	236755883	236755883	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:236755883G>T	ENST00000366582.3	-	10	1358	c.1244C>A	c.(1243-1245)tCt>tAt	p.S415Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.S415Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	7	5	0	5	415					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACTTTATTAGAATCCATTTC	0.289000													0	0	0	1	0	1	0.999523	10	5	0	5	1	8.468524e-01	2	2	0	5	1
RYR2	6262	broad.mit.edu	37	1	237604646	237604646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237604646G>T	ENST00000366574.2	+	13	1350	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E343*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E329*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	20	40	0	68	345					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			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	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)			GGTGAGAAAAGAAGTAGATGG	0.388000													1	1	1	1	1	1	1.000000	22	43	0	76	0	0	0	0	0	76	5
RYR2	6262	broad.mit.edu	37	1	237670013	237670013	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237670013G>A	ENST00000366574.2	+	23	2934	c.2617G>A	c.(2617-2619)Gtg>Atg	p.V873M	RYR2_ENST00000360064.6_Missense_Mutation_p.V871M|RYR2_ENST00000542537.1_Missense_Mutation_p.V857M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	8	17	0	23	873	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			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	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)			ATTTTAGATCGTGTTGCCTCC	0.368000													1	1	1	1	1	1	0.993471	8	17	0	24	0	0	0	0	0	24	5
RYR2	6262	broad.mit.edu	37	1	237756916	237756916	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237756916A>C	ENST00000366574.2	+	33	4733	c.4416A>C	c.(4414-4416)gaA>gaC	p.E1472D	RYR2_ENST00000360064.6_Missense_Mutation_p.E1470D|RYR2_ENST00000542537.1_Missense_Mutation_p.E1456D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	17	35	0	36	1472	4 X approximate repeats.|B30.2/SPRY 3.				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			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	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)			TAGGAGATGAAAAAGGAAAAG	0.378000													1	1	1	1	1	1	0.999999	20	37	0	40	0	0	0	0	0	40	5
RYR2	6262	broad.mit.edu	37	1	237870481	237870481	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237870481G>A	ENST00000366574.2	+	68	10130	c.9813G>A	c.(9811-9813)gaG>gaA	p.E3271E	RYR2_ENST00000360064.6_Silent_p.E3269E|RYR2_ENST00000542537.1_Silent_p.E3255E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	15	18	0	31	3271					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			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	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)			TGAACTCAGAGCACATGAACA	0.483000													1	1	1	1	1	1	0.999991	16	18	0	31	0	0	0	0	0	31	5
RYR2	6262	broad.mit.edu	37	1	237895444	237895444	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237895444G>T	ENST00000366574.2	+	78	11351	c.11034G>T	c.(11032-11034)gaG>gaT	p.E3678D	RYR2_ENST00000360064.6_Missense_Mutation_p.E3676D|RYR2_ENST00000542537.1_Missense_Mutation_p.E3662D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	8	43	0	50	3678					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			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	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)			CTTTAACAGAGAAATGGTATG	0.443000													1	1	1	1	1	1	0.995547	9	46	0	54	0	0	0	0	0	54	5
RYR2	6262	broad.mit.edu	37	1	237961430	237961430	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237961430G>T	ENST00000366574.2	+	97	14367	c.14050G>T	c.(14050-14052)Gaa>Taa	p.E4684*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4690*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4668*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	7	12	0	15	4684					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			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	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)			TGATGCCAGAGAAAAGAAGAA	0.433000													0	0	1	1	1	1	0.997387	9	13	0	15	0	0	0	0	0	15	3
RYR2	6262	broad.mit.edu	37	1	237972271	237972271	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:237972271G>A	ENST00000366574.2	+	100	14686	c.14369G>A	c.(14368-14370)cGa>cAa	p.R4790Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R4796Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R4774Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	61	103	0	182	4790					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	p.R4788Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	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)			AATTTTTTCCGAAAATTCTAC	0.353000													1	1	1	1	1	1	1.000000	65	106	0	194	0	0	0	0	0	194	5
FMN2	56776	broad.mit.edu	37	1	240341335	240341335	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:240341335G>A	ENST00000319653.9	+	3	2127	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N	RP11-567G24.3_ENST00000444308.1_RNA|RP11-567G24.3_ENST00000412311.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	6	51	0	55	633					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	p.D776N(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAAACCTCCCGATGAGGAACA	0.483000													1	0	1	1	0	1	0.990979	8	55	0	61	0	0	0	0	0	61	3
FMN2	56776	broad.mit.edu	37	1	240492401	240492401	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:240492401A>C	ENST00000319653.9	+	9	4471	c.4241A>C	c.(4240-4242)aAa>aCa	p.K1414T	FMN2_ENST00000545751.1_Missense_Mutation_p.K10T	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	28	50	0	69	1414	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			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAACTCGAAAAAATAGAAAAG	0.393000													1	0	1	1	1	1	1.000000	29	53	0	75	0	0	0	1	0	75	4
RGS7	6000	broad.mit.edu	37	1	240966271	240966271	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:240966271T>G	ENST00000366565.1	-	16	1673	c.1292A>C	c.(1291-1293)aAa>aCa	p.K431T	RGS7_ENST00000348120.2_Missense_Mutation_p.K378T|RGS7_ENST00000401882.1_Missense_Mutation_p.K378T|RGS7_ENST00000366562.4_Missense_Mutation_p.K431T|RGS7_ENST00000366563.1_Missense_Mutation_p.K431T|RGS7_ENST00000331110.7_Missense_Mutation_p.K405T|RGS7_ENST00000407727.1_Missense_Mutation_p.K431T|RGS7_ENST00000366564.1_Missense_Mutation_p.K431T|RGS7_ENST00000446183.2_Missense_Mutation_p.K347T	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	25	44	0	66	431	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			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TGAATCACTTTTCATCAGTTT	0.358000													1	1	1	1	1	1	1.000000	29	49	0	69	0	0	0	0	0	69	5
PLD5	200150	broad.mit.edu	37	1	242264056	242264056	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:242264056G>T	ENST00000442594.2	-	10	1501	c.992C>A	c.(991-993)gCt>gAt	p.A331D	PLD5_ENST00000536534.1_Missense_Mutation_p.A423D|PLD5_ENST00000427495.1_Missense_Mutation_p.A361D	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	25	39	0	44	423						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGTAGCACAAGCATTCTCTCT	0.393000													1	1	1	1	1	1	1.000000	27	39	0	46	0	0	0	0	0	46	5
OR2C3	81472	broad.mit.edu	37	1	247695252	247695252	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247695252G>T	ENST00000366487.3	-	2	923	c.562C>A	c.(562-564)Ctg>Atg	p.L188M	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	15	28	0	66	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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)			ACACAAGCCAGTTGCATAATG	0.547000													1	1	1	1	1	1	0.999982	16	30	0	67	0	0	0	0	0	67	5
OR2C3	81472	broad.mit.edu	37	1	247695711	247695711	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247695711A>C	ENST00000366487.3	-	2	464	c.103T>G	c.(103-105)Ttt>Gtt	p.F35V	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	9	80	0	78	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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)			ACCATGTAAAAACTCAAGACA	0.468000													1	1	0	1	0	1	0.994987	9	84	0	84	0	0	0	0	0	84	3
GCSAML	148823	broad.mit.edu	37	1	247719762	247719762	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247719762G>T	ENST00000366488.4	+	2	187	c.83G>T	c.(82-84)aGa>aTa	p.R28I	GCSAML_ENST00000463359.1_5'UTR|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000536561.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_5'UTR|GCSAML_ENST00000366489.1_Intron	NM_145278.3	NP_660321.1			germinal center-associated, signaling and motility-like	8	22	0	20																		GATGAGGAAAGAAAACGGTAA	0.383000													1	0	1	1	1	1	0.992801	8	22	0	22	0	0	0	0	0	22	4
OR6F1	343169	broad.mit.edu	37	1	247875278	247875278	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247875278G>A	ENST00000302084.2	-	1	827	c.780C>T	c.(778-780)gtC>gtT	p.V260V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	6	92	0	93	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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)			TAGAGGTGCGGACGTGAAGGA	0.527000													1	1	1	1	0	1	0.966472	6	96	0	96	0	0	0	0	0	96	4
OR6F1	343169	broad.mit.edu	37	1	247875344	247875344	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247875344G>T	ENST00000302084.2	-	1	761	c.714C>A	c.(712-714)ttC>ttA	p.F238L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	18	120	0	119	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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)			AGCACGTGGAGAAGGCTTTGC	0.522000													1	1	1	1	0	1	0.999999	21	129	0	124	0	0	0	0	0	124	4
OR14K1	343170	broad.mit.edu	37	1	247901933	247901933	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247901933A>T	ENST00000283225.2	+	1	17	c.17A>T	c.(16-18)cAg>cTg	p.Q6L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1	12	41	0	57											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						AATCAGACACAGATGATGGAA	0.388000													1	1	1	1	1	1	0.999746	13	44	0	62	0	0	0	0	0	62	5
OR14A16	284532	broad.mit.edu	37	1	247978588	247978588	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:247978588C>T	ENST00000357627.1	-	1	443	c.444G>A	c.(442-444)ctG>ctA	p.L148L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	43	95	0	134	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GACCCCCATACAGCCAAGACA	0.502000													1	1	1	1	1	1	1.000000	45	101	0	139	0	0	0	0	0	139	5
OR2W3	343171	broad.mit.edu	37	1	248059822	248059822	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248059822G>A	ENST00000537741.1	+	3	1191	c.934G>A	c.(934-936)Gga>Aga	p.G312R	OR2W3_ENST00000360358.3_Missense_Mutation_p.G312R			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	9	25	0	31	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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)			GAGAGAGCTAGGAAAGGAGTA	0.542000													1	1	1	1	1	1	0.998192	10	27	0	33	0	0	0	0	0	33	5
OR2L8	391190	broad.mit.edu	37	1	248113023	248113023	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248113023C>A	ENST00000357191.3	+	1	864	c.864C>A	c.(862-864)atC>atA	p.I288I	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	8	88	0	109	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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)			ACCCCATCATCTATAGCCTGA	0.498000													1	0	1	1	0	1	0.994872	9	98	0	104	0	0	0	0	0	104	3
OR2L13	284521	broad.mit.edu	37	1	248262683	248262683	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248262683G>T	ENST00000366478.2	+	3	343	c.6G>T	c.(4-6)gaG>gaT	p.E2D	OR2L13_ENST00000358120.2_Missense_Mutation_p.E2D	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	21	35	0	45	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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)			TTTTCATGGAGAAATGGAATC	0.333000													1	1	1	1	0	1	1.000000	23	36	0	49	0	0	0	0	0	49	4
OR2M2	391194	broad.mit.edu	37	1	248343661	248343661	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248343661C>A	ENST00000359682.2	+	1	374	c.374C>A	c.(373-375)gCt>gAt	p.A125D		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	12	265	0	252	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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)			CGCTATATTGCTATTTGCCAC	0.393000													1	0	1	1	0	1	0.999565	13	275	0	267	0	0	0	0	0	267	3
OR2M4	26245	broad.mit.edu	37	1	248402359	248402359	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248402359T>G	ENST00000306687.1	+	1	129	c.129T>G	c.(127-129)atT>atG	p.I43M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	43	83	0	122	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	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)			TGGAAAATATTTCCATGGTTC	0.483000													1	1	1	1	1	1	1.000000	46	84	0	127	0	0	0	0	0	127	5
OR2T12	127064	broad.mit.edu	37	1	248458370	248458370	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248458370C>T	ENST00000317996.1	-	1	510	c.511G>A	c.(511-513)Gag>Aag	p.E171K		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	33	80	0	139	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E171K(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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)			TGATCGATCTCGTGTGCACCG	0.562000													1	0	1	1	0	1	1.000000	35	85	0	148	0	0	0	0	0	148	3
OR2T1	26696	broad.mit.edu	37	1	248569685	248569685	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248569685G>T	ENST00000366474.1	+	1	390	c.390G>T	c.(388-390)aaG>aaT	p.K130N		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	45	100	0	115	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K130N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			TTGTGCCTAAGATGCTGGTTA	0.453000													1	1	1	1	1	1	1.000000	46	105	0	124	0	0	0	0	0	124	5
OR2T5	401993	broad.mit.edu	37	1	248651994	248651994	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:248651994C>A	ENST00000366473.2	+	1	110	c.105C>A	c.(103-105)atC>atA	p.I35I		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	23	90	0	192	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	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)			GTGTGGTCATCTTTGTGGTTT	0.488000													1	0	1	1	0	1	1.000000	24	89	0	102	0	0	0	0	0	102	3
SNTG2	54221	broad.mit.edu	37	2	1263164	1263164	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:1263164G>A	ENST00000308624.5	+	13	1157	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	SNTG2_ENST00000407292.1_Missense_Mutation_p.R216Q	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	15	35	0	45	343	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	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)		GATTGGGTGCGAGCAGAAAGG	0.388000													1	1	1	1	1	1	0.999975	16	41	0	50	0	0	0	0	0	50	5
MYT1L	23040	broad.mit.edu	37	2	1906946	1906946	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:1906946A>G	ENST00000399161.2	-	14	2685	c.1938T>C	c.(1936-1938)ttT>ttC	p.F646F	MYT1L_ENST00000428368.2_Silent_p.F644F	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	10	63	0	73	646					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	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)		TGTTGTATTCAAACGAGGTCT	0.483000													1	1	1	1	1	1	0.997532	10	66	0	79	0	0	0	0	0	79	5
TRAPPC12	51112	broad.mit.edu	37	2	3428329	3428329	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3428329T>G	ENST00000324266.5	+	5	1507	c.1312T>G	c.(1312-1314)Ttg>Gtg	p.L438V	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.L438V	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	48	90	0	115	438							binding										ACTAGTGAAGTTGGGCCTTTT	0.423000													1	1	1	1	1	1	1.000000	48	95	0	120	1	9.999965e-01	16	27	0	120	5
RPS7	6201	broad.mit.edu	37	2	3628443	3628443	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3628443A>G	ENST00000304921.5	+	7	720	c.556A>G	c.(556-558)Aat>Gat	p.N186D	RPS7_ENST00000406376.1_Missense_Mutation_p.N186D|RPS7_ENST00000403564.1_Missense_Mutation_p.N186D	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	8	22	0	28	186					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			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		CAAGGATGTTAATTTTGAATT	0.303000													0	1	1	1	1	1	0.992492	8	25	0	28	0	0	0	0	0	28	4
ALLC	55821	broad.mit.edu	37	2	3727581	3727581	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3727581G>T	ENST00000252505.3	+	5	457	c.295G>T	c.(295-297)Gaa>Taa	p.E99*		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	39	48	0	78	118							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	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)		AAACTTGGAAGAAGGTGCGTT	0.547000										HNSCC(21;0.051)			1	1	1	1	1	1	1.000000	42	51	0	88	0	0	0	0	0	88	5
ALLC	55821	broad.mit.edu	37	2	3729237	3729237	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:3729237A>T	ENST00000252505.3	+	6	474	c.312A>T	c.(310-312)gaA>gaT	p.E104D		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	12	16	0	23	123							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	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)		AACTACCAGAAATCCCAGAAA	0.443000										HNSCC(21;0.051)			1	1	1	1	1	1	0.999943	14	19	0	27	0	0	0	0	0	27	5
RSAD2	91543	broad.mit.edu	37	2	7030405	7030405	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:7030405C>T	ENST00000382040.3	+	4	973	c.837C>T	c.(835-837)ttC>ttT	p.F279F	RSAD2_ENST00000541728.1_Silent_p.F172F	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	19	35	0	55	279					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TTGAAAGATTCTTGGAGCGCC	0.393000													1	1	1	1	1	1	0.999998	19	36	0	57	0	2.863822e-01	1	2	0	57	5
KIDINS220	57498	broad.mit.edu	37	2	8871069	8871069	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:8871069G>A	ENST00000256707.3	-	30	5278	c.5097C>T	c.(5095-5097)ttC>ttT	p.F1699F	KIDINS220_ENST00000473731.1_Silent_p.F1680F|KIDINS220_ENST00000427284.1_Silent_p.F1680F|KIDINS220_ENST00000418530.1_Silent_p.F1600F	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	25	31	0	38	1699					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATCTCATCGAAATTTTGAT	0.468000													1	0	1	1	1	1	1.000000	27	32	0	39	1	1	19	28	0	39	4
ADAM17	6868	broad.mit.edu	37	2	9676860	9676860	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:9676860T>G	ENST00000310823.3	-	3	510	c.328A>C	c.(328-330)Aaa>Caa	p.K110Q	ADAM17_ENST00000497134.1_Missense_Mutation_p.K110Q	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	28	48	0	52	110					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			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TCCTGCCATTTTACAGTGTAC	0.418000													1	1	1	1	1	1	1.000000	32	53	0	60	1	9.991869e-01	10	13	0	60	5
TAF1B	9014	broad.mit.edu	37	2	10050892	10050892	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10050892T>C	ENST00000263663.5	+	10	1171	c.983T>C	c.(982-984)gTg>gCg	p.V328A	TAF1B_ENST00000396242.3_Missense_Mutation_p.V73A	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	4	53	0	48	328					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			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTTGCCACGTGGTAAAAATG	0.343000													0	0	1	0	0	1	0.940145	5	59	0	54	1	8.736239e-01	6	41	0	54	1
GRHL1	29841	broad.mit.edu	37	2	10104055	10104055	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10104055C>T	ENST00000324907.9	+	6	923	c.787C>T	c.(787-789)Cga>Tga	p.R263*	GRHL1_ENST00000405379.2_Nonsense_Mutation_p.R263*|GRHL1_ENST00000324883.5_Nonsense_Mutation_p.R74*	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	11	31	0	58	263					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		AAAATCACTTCGACAGAAGCC	0.438000													1	1	1	1	1	1	0.999794	13	32	0	60	0	4.633739e-01	0	5	0	60	5
ODC1	4953	broad.mit.edu	37	2	10582167	10582167	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10582167A>C	ENST00000234111.4	-	9	1394	c.884T>G	c.(883-885)aTt>aGt	p.I295S	ODC1_ENST00000405333.1_Missense_Mutation_p.I295S	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	9	61	0	61	295					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	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)	CTTTAATACAATTTTCTTGGC	0.398000													1	1	1	1	1	1	0.997515	10	68	0	68	1	1	76	412	0	68	5
NOL10	79954	broad.mit.edu	37	2	10712246	10712246	+	Missense_Mutation	SNP	G	G	A	rs142436125		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10712246G>A	ENST00000345985.3	-	20	1978	c.1868C>T	c.(1867-1869)tCg>tTg	p.S623L	NOL10_ENST00000542668.1_Missense_Mutation_p.S623L|NOL10_ENST00000538384.1_Missense_Mutation_p.S647L|NOL10_ENST00000381685.5_Missense_Mutation_p.S673L	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	53	84	0	118	673						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		GTGTCCGGCCGAACGACGGAG	0.483000													1	1	1	1	1	1	1.000000	60	90	0	135	1	1	26	65	0	135	5
NOL10	79954	broad.mit.edu	37	2	10729370	10729370	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:10729370G>A	ENST00000345985.3	-	18	1603	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L	NOL10_ENST00000542668.1_Missense_Mutation_p.S498L|NOL10_ENST00000538384.1_Missense_Mutation_p.S522L|NOL10_ENST00000381685.5_Missense_Mutation_p.S548L|AC092687.5_ENST00000414538.1_RNA	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	18	44	0	58	548						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		TGAACTCTCCGAACTTTCTGC	0.493000													1	1	1	1	1	1	0.999997	19	49	0	60	1	9.999998e-01	16	69	0	60	5
ROCK2	9475	broad.mit.edu	37	2	11337450	11337450	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:11337450G>A	ENST00000315872.6	-	27	3752	c.3304C>T	c.(3304-3306)Cga>Tga	p.R1102*	ROCK2_ENST00000401753.1_Nonsense_Mutation_p.R859*	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	16	33	0	54	1102					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AGTTCAATTCGAATCTGGCTC	0.368000													1	1	1	1	1	1	0.999979	16	35	0	62	0	9.602926e-01	1	14	0	62	5
ROCK2	9475	broad.mit.edu	37	2	11364495	11364495	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:11364495T>G	ENST00000315872.6	-	7	1408	c.960A>C	c.(958-960)gaA>gaC	p.E320D	ROCK2_ENST00000401753.1_Missense_Mutation_p.E77D	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	29	36	0	47	320	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			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTTTGGAAATTTCTGCATCTT	0.323000													1	1	1	1	1	1	1.000000	29	37	0	51	0	9.190821e-01	1	7	0	51	5
NBAS	51594	broad.mit.edu	37	2	15555741	15555741	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:15555741C>A	ENST00000281513.5	-	25	2891	c.2866G>T	c.(2866-2868)Gaa>Taa	p.E956*	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	24	41	0	54	956										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTAAATATTCTTTTAATAGC	0.368000													1	1	1	1	1	1	1.000000	26	42	0	60	0	3.338028e-01	1	2	0	60	5
FAM49A	81553	broad.mit.edu	37	2	16740730	16740730	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:16740730C>T	ENST00000381323.3	-	10	1055	c.835G>A	c.(835-837)Gat>Aat	p.D279N	FAM49A_ENST00000355549.2_Missense_Mutation_p.D279N|FAM49A_ENST00000406434.1_Missense_Mutation_p.D279N	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	39	45	0	91	279						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ATTCTTACATCGATCTTGGAT	0.483000													1	1	1	1	1	1	1.000000	41	51	0	103	0	4.213326e-01	0	3	0	103	5
RDH14	57665	broad.mit.edu	37	2	18736896	18736896	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:18736896G>T	ENST00000381249.3	-	2	679	c.572C>A	c.(571-573)tCt>tAt	p.S191Y	NT5C1B-RDH14_ENST00000532967.1_3'UTR|RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1			retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	8	54	0	49											breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)					AAGTTTGGAAGAAACTACCAC	0.418000													1	1	1	1	1	1	0.991006	8	54	0	51	1	9.935678e-01	10	56	0	51	5
NT5C1B	93034	broad.mit.edu	37	2	18764226	18764226	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:18764226T>C	ENST00000304081.4	-	6	1029	c.929A>G	c.(928-930)tAt>tGt	p.Y310C	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.Y370C|NT5C1B_ENST00000600945.1_Missense_Mutation_p.Y370C|NT5C1B_ENST00000359846.2_Missense_Mutation_p.Y370C	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB	9	35	0	47											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTCATCAGGATATAGATCACG	0.463000													1	1	1	1	1	1	0.995741	9	39	0	50	0	0	0	0	0	50	5
MATN3	4148	broad.mit.edu	37	2	20200270	20200270	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:20200270C>A	ENST00000407540.3	-	5	1162	c.1100G>T	c.(1099-1101)aGa>aTa	p.R367I	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.R325I	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	10	24	0	23	367	EGF-like 3.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.R367K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACCCTGTTCTGTCATTCAC	0.388000													1	0	1	1	1	1	0.998192	10	27	0	23	0	3.198874e-01	1	2	0	23	4
APOB	338	broad.mit.edu	37	2	21225596	21225596	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:21225596G>A	ENST00000233242.1	-	29	12825	c.12698C>T	c.(12697-12699)tCg>tTg	p.S4233L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	16	39	0	70	4233					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			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATGGACTTTCGAATATACCTG	0.413000													1	1	1	1	1	1	0.999988	17	44	0	74	0	0	0	0	0	74	5
APOB	338	broad.mit.edu	37	2	21230633	21230633	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:21230633G>T	ENST00000233242.1	-	26	9234	c.9107C>A	c.(9106-9108)tCt>tAt	p.S3036Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	14	32	0	45	3036					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	p.S3036Y(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAAGAAAAGAGAATTTTTCAA	0.408000													1	1	1	1	1	1	0.999952	15	36	0	49	0	0	0	0	0	49	5
ATAD2B	54454	broad.mit.edu	37	2	23980445	23980445	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:23980445C>A	ENST00000238789.5	-	25	4264	c.3921G>T	c.(3919-3921)aaG>aaT	p.K1307N	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	8	129	0	120	1307							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGAAGAATCTTTTGTTCAG	0.383000													1	1	1	1	0	1	0.997182	10	145	0	132	0	1.809717e-01	1	10	0	132	4
C2orf44	80304	broad.mit.edu	37	2	24261807	24261807	+	Silent	SNP	G	G	A	rs151169389	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:24261807G>A	ENST00000295148.4	-	2	615	c.558C>T	c.(556-558)agC>agT	p.S186S	C2orf44_ENST00000406895.3_Silent_p.S186S	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	10	37	0	59	186							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTGAGCGCTGTCCCAAA	0.557000			T	ALK	NSCLC								1	1	1	1	1	1	0.997850	10	41	0	60	1	5.071963e-01	2	6	0	60	5
ITSN2	50618	broad.mit.edu	37	2	24509172	24509172	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:24509172A>C	ENST00000355123.4	-	16	2215	c.1772T>G	c.(1771-1773)tTa>tGa	p.L591*	ITSN2_ENST00000406921.3_Nonsense_Mutation_p.L591*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.L591*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	4	33	0	21	591					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTGGCATAATTCTTCCTT	0.308000													0	0	1	0	1	1	0.893960	4	34	0	21	0	2.671827e-01	0	8	0	21	2
DNAJC27	51277	broad.mit.edu	37	2	25194715	25194715	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:25194715A>G	ENST00000264711.2	-	1	248	c.59T>C	c.(58-60)aTc>aCc	p.I20T	DNAJC27-AS1_ENST00000451291.1_RNA|DNAJC27-AS1_ENST00000421904.1_RNA	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	11	17	0	41	20					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GCCCATGGAGATGACTTTGAT	0.677000													1	1	1	1	1	1	0.999713	12	18	0	48	0	0	0	0	0	48	5
POMC	5443	broad.mit.edu	37	2	25387575	25387575	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:25387575C>T	ENST00000405623.1	-	2	522	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	POMC_ENST00000395826.2_Missense_Mutation_p.E23K|POMC_ENST00000380794.1_Missense_Mutation_p.E23K|POMC_ENST00000264708.3_Missense_Mutation_p.E23K			P01189	COLI_HUMAN	proopiomelanocortin	31	65	0	85	23					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	CCACGCACTTCCATGGAGGCC	0.617000													1	1	1	1	1	1	1.000000	31	66	0	85	0	0	0	1	0	85	5
ASXL2	55252	broad.mit.edu	37	2	25966456	25966456	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:25966456G>A	ENST00000435504.4	-	13	3043	c.2750C>T	c.(2749-2751)tCg>tTg	p.S917L	ASXL2_ENST00000336112.4_Missense_Mutation_p.S889L|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000272341.4_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	51	101	0	147	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAGTGCTCGAGGGTGGAGC	0.473000													1	1	1	1	1	1	1.000000	51	106	0	148	0	2.523292e-01	0	3	0	148	5
ASXL2	55252	broad.mit.edu	37	2	26022301	26022301	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:26022301T>C	ENST00000435504.4	-	5	649	c.356A>G	c.(355-357)gAt>gGt	p.D119G	ASXL2_ENST00000336112.4_Missense_Mutation_p.D91G|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	13	90	0	114	119	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCCACCATCACTGCTGCT	0.478000													1	0	1	1	1	1	0.992335	14	97	1	128	0	5.038375e-02	0	3	1	128	4
DRC1	92749	broad.mit.edu	37	2	26667759	26667759	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:26667759T>C	ENST00000288710.2	+	10	1413	c.1339T>C	c.(1339-1341)Tct>Cct	p.S447P	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)	6	42	0	47																		tgggcctatttctcAGCAGCC	0.527000													0	0	1	0	0	1	0.968073	6	46	0	53	1	8.602900e-01	6	24	0	53	1
KHK	3795	broad.mit.edu	37	2	27315234	27315234	+	Missense_Mutation	SNP	G	G	A	rs104893644		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27315234G>A	ENST00000260599.6	+	2	640	c.127G>A	c.(127-129)Gcg>Acg	p.A43T	KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Missense_Mutation_p.A43T	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	25	37	0	70	43			A -> T (in FRUCT).		fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGAGGCAACGCGTCCAACTC	0.612000													1	1	1	1	1	1	1.000000	26	39	0	76	1	9.936888e-01	7	9	0	76	5
CGREF1	10669	broad.mit.edu	37	2	27324190	27324190	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27324190T>C	ENST00000402394.1	-	6	1177	c.909A>G	c.(907-909)caA>caG	p.Q303Q	CGREF1_ENST00000405600.1_Silent_p.Q303Q|CGREF1_ENST00000312734.4_Silent_p.Q303Q|CGREF1_ENST00000260595.5_Silent_p.Q286Q|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000404694.3_Silent_p.Q425Q	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	69	139	0	236	286					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAAGTCATTTTGGGTGTTCT	0.532000													1	1	1	1	1	1	1.000000	72	144	0	249	1	9.425999e-01	5	7	0	249	5
SLC5A6	8884	broad.mit.edu	37	2	27430447	27430447	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27430447G>T	ENST00000310574.3	-	3	545	c.72C>A	c.(70-72)ttC>ttA	p.F24L	SLC5A6_ENST00000408041.1_Missense_Mutation_p.F24L	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	20	48	0	55	24					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CCATGATGGAGAAGGTAGACA	0.567000													1	1	1	1	1	1	0.999999	21	52	0	60	1	9.934810e-01	11	13	0	60	5
GTF3C2	2976	broad.mit.edu	37	2	27551727	27551727	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27551727C>T	ENST00000359541.2	-	15	2540	c.2111G>A	c.(2110-2112)cGa>cAa	p.R704Q	GTF3C2_ENST00000264720.3_Missense_Mutation_p.R704Q			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	13	26	0	42	704						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCCTTTTCGAGGAGCAGT	0.403000													1	1	1	1	1	1	0.999961	15	29	0	50	1	1	40	64	0	50	5
GTF3C2	2976	broad.mit.edu	37	2	27565787	27565787	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27565787C>A	ENST00000359541.2	-	3	904	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	GTF3C2_ENST00000264720.3_Missense_Mutation_p.D159Y			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	33	51	0	85	159						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGATCTAGGTCTTTTGACAAC	0.552000													1	1	1	1	1	1	1.000000	35	53	0	91	1	1	33	55	0	91	5
IFT172	26160	broad.mit.edu	37	2	27700448	27700448	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27700448T>G	ENST00000260570.3	-	12	1302	c.1199A>C	c.(1198-1200)aAg>aCg	p.K400T	IFT172_ENST00000359466.6_Missense_Mutation_p.K400T|IFT172_ENST00000416524.2_Missense_Mutation_p.K379T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	16	30	0	50	400					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AAAGAAATACTTCTCATTGCC	0.403000													1	1	1	1	1	1	0.999996	18	32	0	58	0	5.928882e-01	0	4	0	58	5
IFT172	26160	broad.mit.edu	37	2	27708255	27708255	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27708255T>G	ENST00000260570.3	-	2	258	c.155A>C	c.(154-156)aAa>aCa	p.K52T	IFT172_ENST00000359466.6_Missense_Mutation_p.K52T|IFT172_ENST00000416524.2_Missense_Mutation_p.K31T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	49	66	0	106	52					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGTGGAGAATTTATCTCTCCG	0.453000													1	1	1	1	1	1	1.000000	51	69	0	118	0	5.676867e-01	0	4	0	118	5
FNDC4	64838	broad.mit.edu	37	2	27716803	27716803	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27716803T>G	ENST00000264703.3	-	4	839	c.448A>C	c.(448-450)Agc>Cgc	p.S150R		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	23	54	0	86	150						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCACCTGGGCTTGAACTGTTT	0.562000													1	1	1	1	1	1	1.000000	26	60	0	97	1	9.999838e-01	28	20	0	97	5
GCKR	2646	broad.mit.edu	37	2	27728635	27728635	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:27728635G>T	ENST00000264717.2	+	10	864	c.801G>T	c.(799-801)aaG>aaT	p.K267N	GCKR_ENST00000424318.2_Missense_Mutation_p.K77N	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	34	67	0	76	267	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			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GTGCCACCAAGATTCTGCTGG	0.542000													1	1	1	1	1	1	1.000000	36	72	0	80	0	0	1	0	0	80	5
FOSL2	2355	broad.mit.edu	37	2	28626994	28626994	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:28626994T>C	ENST00000264716.4	+	2	986	c.123T>C	c.(121-123)ccT>ccC	p.P41P	FOSL2_ENST00000379619.1_Silent_p.P16P|FOSL2_ENST00000545753.1_Silent_p.P2P|FOSL2_ENST00000460736.1_3'UTR	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	9	103	0	81	41					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			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TAGATATGCCTGGCTCAGGCA	0.463000													1	1	1	1	0	1	0.994811	9	109	0	91	1	9.686317e-01	8	68	0	91	4
PPP1CB	5500	broad.mit.edu	37	2	29001835	29001835	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:29001835G>T	ENST00000395366.2	+	3	617	c.345G>T	c.(343-345)gaG>gaT	p.E115D	PPP1CB_ENST00000296122.6_Missense_Mutation_p.E115D|PPP1CB_ENST00000358506.2_Missense_Mutation_p.E115D	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	14	30	0	40	115					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			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AATATCCAGAGAACTTCTTTC	0.343000													1	1	1	1	1	1	0.999905	14	32	0	46	1	1	63	83	0	46	5
C2orf71	388939	broad.mit.edu	37	2	29294728	29294728	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:29294728G>T	ENST00000331664.5	-	1	2399	c.2400C>A	c.(2398-2400)ccC>ccA	p.P800P		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	37	71	0	106	800					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TAGGTGCTAAGGGCTTCCAGC	0.542000													1	1	1	1	1	1	1.000000	38	74	0	110	0	0	0	0	0	110	5
CAPN13	92291	broad.mit.edu	37	2	30957322	30957322	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:30957322C>A	ENST00000295055.8	-	19	1967	c.1791G>T	c.(1789-1791)gaG>gaT	p.E597D	CAPN13_ENST00000534090.2_Missense_Mutation_p.E597D	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	12	19	0	25	597					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TACCTGTATTCTCTATGGCCT	0.552000													1	1	1	1	1	1	0.999699	12	19	0	30	1	9.905564e-01	8	9	0	30	5
NLRC4	58484	broad.mit.edu	37	2	32449775	32449775	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32449775G>A	ENST00000404025.2	-	10	3330	c.2842C>T	c.(2842-2844)Cgt>Tgt	p.R948C	NLRC4_ENST00000402280.1_Missense_Mutation_p.R948C|NLRC4_ENST00000342905.6_Missense_Mutation_p.R283C|NLRC4_ENST00000360906.5_Missense_Mutation_p.R948C			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	19	42	0	54	948					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			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGCTCACACGATTTCCCGCC	0.363000													1	1	1	1	1	1	1.000000	22	47	0	60	1	8.993002e-01	4	7	0	60	5
NLRC4	58484	broad.mit.edu	37	2	32475335	32475335	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32475335G>T	ENST00000404025.2	-	5	2086	c.1598C>A	c.(1597-1599)tCt>tAt	p.S533Y	NLRC4_ENST00000402280.1_Missense_Mutation_p.S533Y|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Missense_Mutation_p.S533Y			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	26	44	0	88	533					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			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACTTTGCAAAGATTCCTGTCT	0.463000													1	1	1	1	1	1	1.000000	28	47	0	101	0	0	0	0	0	101	5
NLRC4	58484	broad.mit.edu	37	2	32476392	32476392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32476392G>A	ENST00000404025.2	-	5	1029	c.541C>T	c.(541-543)Cga>Tga	p.R181*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.R181*|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.R181*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	25	51	0	71	181	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			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATGGCAATTCGCTGCAGCAGA	0.572000													1	1	1	1	1	1	1.000000	25	52	0	84	0	0	0	1	0	84	5
BIRC6	57448	broad.mit.edu	37	2	32640478	32640478	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:32640478A>G	ENST00000421745.2	+	10	2253	c.2119A>G	c.(2119-2121)Aac>Gac	p.N707D		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	16	21	0	42	707					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGAGAAGTGGAACTCTGTGTT	0.473000													1	1	1	1	1	1	0.999986	16	25	0	44	0	0	0	0	0	44	5
LTBP1	4052	broad.mit.edu	37	2	33413754	33413754	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:33413754G>T	ENST00000404816.2	+	7	1890	c.1537G>T	c.(1537-1539)Gaa>Taa	p.E513*	LTBP1_ENST00000354476.3_Nonsense_Mutation_p.E513*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.E187*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.E187*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.E187*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	37	60	0	106	513					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			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAAGACAAAAGAAGCTCAACC	0.483000													1	1	1	1	1	1	1.000000	37	61	0	107	1	9.997456e-01	2	24	0	107	5
CRIM1	51232	broad.mit.edu	37	2	36744477	36744477	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:36744477T>A	ENST00000280527.2	+	12	2365	c.1998T>A	c.(1996-1998)ttT>ttA	p.F666L		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	26	37	0	62	666					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			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CAGATGACTTTGTGGTGCAGA	0.458000													1	1	1	1	1	1	1.000000	28	38	0	67	1	9.999652e-01	10	19	0	67	5
STRN	6801	broad.mit.edu	37	2	37121137	37121137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37121137G>A	ENST00000263918.4	-	7	843	c.835C>T	c.(835-837)Cga>Tga	p.R279*	STRN_ENST00000379213.2_Nonsense_Mutation_p.R267*	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	8	61	0	71	279					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			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTTGTATCTCGATCTTCACCG	0.383000													1	1	1	1	1	1	0.990726	8	66	0	73	0	4.180030e-02	0	3	0	73	5
HEATR5B	54497	broad.mit.edu	37	2	37235920	37235920	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37235920G>A	ENST00000233099.5	-	28	4451	c.4356C>T	c.(4354-4356)gaC>gaT	p.D1452D	HEATR5B_ENST00000354531.2_Silent_p.D1452D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	55	88	0	98	1452							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CATCATCATCGTCAGTATTTT	0.378000													1	1	1	1	1	1	1.000000	60	92	0	103	1	9.925194e-01	8	7	0	103	5
HEATR5B	54497	broad.mit.edu	37	2	37268371	37268371	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37268371G>A	ENST00000233099.5	-	19	2856	c.2761C>T	c.(2761-2763)Cgt>Tgt	p.R921C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R921C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	32	43	0	61	921							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCAACATAACGATGCAAACAA	0.433000													1	1	1	1	1	1	1.000000	33	48	0	66	1	7.723024e-01	3	3	0	66	5
HEATR5B	54497	broad.mit.edu	37	2	37287862	37287862	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37287862G>A	ENST00000233099.5	-	12	1806	c.1711C>T	c.(1711-1713)Cgt>Tgt	p.R571C	HEATR5B_ENST00000354531.2_Missense_Mutation_p.R571C	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	31	38	0	66	571							binding	p.R571C(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGATGGTAACGAACGACAGAT	0.418000													1	1	1	1	1	1	1.000000	38	42	0	71	0	4.638764e-01	1	2	0	71	5
EIF2AK2	5610	broad.mit.edu	37	2	37374085	37374085	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37374085C>A	ENST00000233057.4	-	4	473	c.151G>T	c.(151-153)Gaa>Taa	p.E51*	EIF2AK2_ENST00000405334.1_Nonsense_Mutation_p.E51*|EIF2AK2_ENST00000395127.2_Nonsense_Mutation_p.E51*	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	6	18	0	21	51	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			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TCTGGAAATTCTCTTCCATCT	0.323000													1	0	1	1	1	1	0.972020	6	18	0	21	0	9.081849e-01	1	15	0	21	4
CEBPZ	10153	broad.mit.edu	37	2	37455758	37455758	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37455758G>T	ENST00000234170.5	-	2	723	c.578C>A	c.(577-579)tCt>tAt	p.S193Y		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	28	60	0	88	193					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.S193Y(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GGGTTTCAAAGAATATTCATT	0.368000													1	1	1	1	1	1	1.000000	32	61	0	92	1	9.999977e-01	20	27	0	92	5
PRKD3	23683	broad.mit.edu	37	2	37487503	37487503	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37487503T>G	ENST00000379066.1	-	15	2671	c.1909A>C	c.(1909-1911)Aac>Cac	p.N637H	PRKD3_ENST00000234179.2_Missense_Mutation_p.N637H			O94806	KPCD3_HUMAN	protein kinase D3	12	13	0	34	637	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			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CATTCCAGGTTTACAATCCCA	0.383000													1	1	1	1	1	1	0.999906	13	14	0	38	1	9.999058e-01	15	12	0	38	5
QPCT	25797	broad.mit.edu	37	2	37586751	37586751	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:37586751A>C	ENST00000338415.3	+	3	454	c.296A>C	c.(295-297)cAg>cCg	p.Q99P	QPCT_ENST00000537448.1_Missense_Mutation_p.Q50P	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	19	29	0	61	99					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)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CAGAGGCTTCAGGCTGACTGG	0.398000													1	1	1	1	1	1	0.999999	20	33	0	66	1	1	33	34	0	66	5
DHX57	90957	broad.mit.edu	37	2	39055483	39055483	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:39055483G>A	ENST00000295373.6	-	14	2764	c.2639_splice	c.e14+1	p.R880_splice		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	10	23	0	29	880	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTAGCTTACCGATTACTACGT	0.388000													1	1	1	1	1	1	0.999228	11	23	0	30	0	9.753359e-01	1	16	0	30	5
DHX57	90957	broad.mit.edu	37	2	39095357	39095357	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:39095357A>C	ENST00000295373.6	-	2	317	c.191T>G	c.(190-192)tTt>tGt	p.F64C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	24	72	0	71	64							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GAAGATACAAAAGTCATCTCC	0.468000													1	1	1	1	1	1	1.000000	25	77	0	76	1	4.632823e-01	2	4	0	76	5
MAP4K3	8491	broad.mit.edu	37	2	39499439	39499439	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:39499439T>C	ENST00000263881.3	-	26	2282	c.1958A>G	c.(1957-1959)gAc>gGc	p.D653G	MAP4K3_ENST00000437545.1_Missense_Mutation_p.D569G|MAP4K3_ENST00000536018.1_Missense_Mutation_p.D206G|MAP4K3_ENST00000341681.5_Missense_Mutation_p.D632G	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	8	36	0	47	653	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CAGTATTCTGTCAGGGAGTTT	0.368000													1	1	1	1	1	1	0.997909	10	38	0	50	1	9.674705e-01	7	19	0	50	5
SLC8A1	6546	broad.mit.edu	37	2	40366764	40366764	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:40366764G>A	ENST00000406785.1	-	7	2403	c.2214C>T	c.(2212-2214)ttC>ttT	p.F738F	SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F769F|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.F774F|SLC8A1_ENST00000405269.1_Silent_p.F738F|SLC8A1_ENST00000402441.1_Silent_p.F738F|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.F769F|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000408028.2_Silent_p.F766F|SLC8A1_ENST00000332839.4_Silent_p.F774F|SLC8A1_ENST00000406391.2_Silent_p.F738F|SLC8A1_ENST00000542024.1_Silent_p.F738F|SLC8A1-AS1_ENST00000599268.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	46	86	1	128	774					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCACGTAATCGAAACAGGAGG	0.502000													1	0	1	1	1	1	1.000000	49	94	1	136	0	0	0	0	1	136	4
SLC8A1	6546	broad.mit.edu	37	2	40401859	40401859	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:40401859T>C	ENST00000403092.1	-	6	1989	c.1954_splice	c.e6-1	p.G652_splice	SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000542756.1_Intron|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000405269.1_Intron|SLC8A1_ENST00000402441.1_Intron|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Intron|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000408028.2_Splice_Site_p.G644_splice|SLC8A1_ENST00000332839.4_Splice_Site_p.G652_splice|SLC8A1_ENST00000406391.2_Intron|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000599268.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	7	22	0	32	652					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACAGGTATTTTCCTTCATTAA	0.274000													1	0	1	1	1	1	0.985354	7	22	0	34	0	0	1	0	0	34	4
SLC8A1	6546	broad.mit.edu	37	2	40655715	40655715	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:40655715T>C	ENST00000406785.1	-	2	1895	c.1706A>G	c.(1705-1707)aAt>aGt	p.N569S	SLC8A1_ENST00000542756.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000403092.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000405269.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000402441.1_Missense_Mutation_p.N569S|SLC8A1_ENST00000405901.3_Missense_Mutation_p.N569S|SLC8A1_ENST00000408028.2_Missense_Mutation_p.N569S|SLC8A1_ENST00000332839.4_Missense_Mutation_p.N569S|SLC8A1_ENST00000406391.2_Missense_Mutation_p.N569S|SLC8A1_ENST00000542024.1_Missense_Mutation_p.N569S			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	20	63	0	89	569	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AACGATAACATTTCCTCGAGC	0.453000													1	1	1	1	1	1	1.000000	26	70	0	101	0	0	0	1	0	101	5
THADA	63892	broad.mit.edu	37	2	43797628	43797628	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:43797628T>G	ENST00000403856.1	-	15	2233	c.2086A>C	c.(2086-2088)Agt>Cgt	p.S696R	THADA_ENST00000415080.2_Missense_Mutation_p.S406R|THADA_ENST00000404790.1_Missense_Mutation_p.S696R|THADA_ENST00000402360.2_Missense_Mutation_p.S696R|THADA_ENST00000405006.4_Missense_Mutation_p.S696R|THADA_ENST00000330266.7_Missense_Mutation_p.S406R|THADA_ENST00000405975.2_Missense_Mutation_p.S696R			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	10	23	0	24	696							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACCTGAGAACTTTCCTGTATC	0.363000													1	1	1	1	1	1	0.998334	10	23	0	26	1	7.963818e-01	5	4	0	26	5
THADA	63892	broad.mit.edu	37	2	43798951	43798951	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:43798951T>G	ENST00000403856.1	-	14	2106	c.1959A>C	c.(1957-1959)gaA>gaC	p.E653D	THADA_ENST00000415080.2_Missense_Mutation_p.E363D|THADA_ENST00000404790.1_Missense_Mutation_p.E653D|THADA_ENST00000402360.2_Missense_Mutation_p.E653D|THADA_ENST00000405006.4_Missense_Mutation_p.E653D|THADA_ENST00000330266.7_Missense_Mutation_p.E363D|THADA_ENST00000405975.2_Missense_Mutation_p.E653D			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	39	60	0	86	653							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TGGAAACAATTTCTGTGCTCC	0.358000													1	1	1	1	1	1	1.000000	40	64	0	94	1	9.697487e-01	8	4	0	94	5
DYNC2LI1	51626	broad.mit.edu	37	2	44021614	44021614	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44021614C>T	ENST00000260605.8	+	6	439	c.339C>T	c.(337-339)ctC>ctT	p.L113L	DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000443170.3_5'UTR|DYNC2LI1_ENST00000406852.3_Silent_p.L113L|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000605786.1_Silent_p.L113L	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	8	23	0	31	113						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCTTGTTCTCGTTCTGGATC	0.333000													1	1	1	1	1	1	0.998296	10	24	0	32	1	9.999625e-01	28	34	0	32	5
ABCG8	64241	broad.mit.edu	37	2	44073297	44073297	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44073297G>A	ENST00000272286.2	+	3	259	c.169G>A	c.(169-171)Gac>Aac	p.D57N		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	28	35	0	95	57	ABC transporter.				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			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCCACAGGTGGACCTGGCCTC	0.547000													1	1	1	1	1	1	1.000000	31	38	0	113	0	0	0	0	0	113	5
LRPPRC	10128	broad.mit.edu	37	2	44170828	44170828	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44170828T>G	ENST00000260665.7	-	23	2559	c.2502A>C	c.(2500-2502)gaA>gaC	p.E834D		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	10	51	0	67	834					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			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAACTTACTTTTCCAAGTGTA	0.338000													1	1	1	1	1	1	0.998813	11	56	0	76	1	9.999941e-01	23	120	0	76	5
LRPPRC	10128	broad.mit.edu	37	2	44187698	44187698	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:44187698C>A	ENST00000260665.7	-	13	1621	c.1564G>T	c.(1564-1566)Gac>Tac	p.D522Y	LRPPRC_ENST00000409946.1_Missense_Mutation_p.D522Y	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	7	57	0	53	522					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			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATACAAAGTCTAAGTTCCCA	0.363000													1	0	1	1	1	1	0.995226	9	63	0	56	1	9.855832e-01	11	45	0	56	4
SRBD1	55133	broad.mit.edu	37	2	45620089	45620089	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:45620089C>T	ENST00000263736.4	-	20	2755	c.2693G>A	c.(2692-2694)cGa>cAa	p.R898Q	SRBD1_ENST00000535761.1_Missense_Mutation_p.R417Q|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	41	74	0	124	898					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTACCTGTTCGAAAGTCAAA	0.413000													1	1	1	1	1	1	1.000000	43	81	0	135	1	9.999168e-01	12	20	0	135	5
SRBD1	55133	broad.mit.edu	37	2	45645642	45645642	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:45645642A>C	ENST00000263736.4	-	18	2257	c.2195T>G	c.(2194-2196)aTt>aGt	p.I732S	SRBD1_ENST00000535761.1_Missense_Mutation_p.I251S|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	23	40	0	58	732					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CCATTCAATAATATTTTTGGC	0.388000													1	1	1	1	1	1	1.000000	29	40	0	64	1	9.996993e-01	14	9	0	64	5
PIGF	5281	broad.mit.edu	37	2	46842208	46842208	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:46842208C>A	ENST00000281382.6	-	2	266	c.96G>T	c.(94-96)gaG>gaT	p.E32D	PIGF_ENST00000306465.4_Missense_Mutation_p.E32D|PIGF_ENST00000495933.1_5'UTR	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	30	62	0	61	32					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTGAGAAGTTCTCCAAGAAGA	0.343000													1	1	1	1	1	1	1.000000	33	67	0	64	1	9.999998e-01	24	35	0	64	5
CRIPT	9419	broad.mit.edu	37	2	46851312	46851312	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:46851312G>A	ENST00000238892.3	+	5	384	c.252G>A	c.(250-252)gcG>gcA	p.A84A	CRIPT_ENST00000486447.1_3'UTR	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	10	37	0	38	84						cell junction|cytoplasm|dendritic spine				kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCATCTGTGCGATGTGTGGAA	0.328000													1	1	1	1	1	1	0.998946	11	41	0	45	1	9.999183e-01	30	46	0	45	5
SOCS5	0	broad.mit.edu	37	2	46986192	46986192	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:46986192C>T	ENST00000306503.5	+	2	695	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	SOCS5_ENST00000394861.2_Missense_Mutation_p.R175C	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	22	56	0	97	175					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					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TGTAGGAAGTCGCTCTCTAAG	0.458000													1	1	1	1	1	1	1.000000	24	60	0	111	1	9.460008e-01	6	9	0	111	5
MSH6	2956	broad.mit.edu	37	2	48026710	48026710	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:48026710G>T	ENST00000234420.4	+	4	1740	c.1588G>T	c.(1588-1590)Gat>Tat	p.D530Y	MSH6_ENST00000540021.1_Missense_Mutation_p.D400Y|MSH6_ENST00000538136.1_Missense_Mutation_p.D228Y|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	26	42	0	63	530					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	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTGGAAGGTGATCCCTCTGA	0.428000			Mis, N, F, S		colorectal	colorectal, endometrial, ovarian		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				1	1	1	1	1	1	1.000000	28	45	0	68	1	9.999989e-01	23	22	0	68	5
FBXO11	80204	broad.mit.edu	37	2	48036362	48036362	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:48036362A>C	ENST00000403359.3	-	21	2562	c.2490T>G	c.(2488-2490)gtT>gtG	p.V830V	FBXO11_ENST00000402508.1_Silent_p.V746V|FBXO11_ENST00000316377.4_Silent_p.V746V|FBXO11_ENST00000434523.2_Silent_p.V254V	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	3	40	0	49	830					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GGCCTCTACTAACAGCCTTTT	0.289000			Mis, F, D		DLBCL								0	0	0	0	1	1	0.893223	4	44	0	61	1	9.391630e-01	9	52	0	61	1
LHCGR	3973	broad.mit.edu	37	2	48914916	48914916	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:48914916A>T	ENST00000294954.7	-	11	2041	c.2020T>A	c.(2020-2022)Tct>Act	p.S674T	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.S647T|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.S612T	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	20	80	0	121	674					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		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)	GTGGATTGAGAAGGCTTATTT	0.428000													1	1	1	1	1	1	0.999998	20	87	0	133	0	0	0	0	0	133	5
LHCGR	3973	broad.mit.edu	37	2	48915866	48915866	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:48915866A>G	ENST00000294954.7	-	11	1091	c.1070T>C	c.(1069-1071)aTg>aCg	p.M357T	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.M330T|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Missense_Mutation_p.M295T	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	39	51	0	97	357					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		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)	GTCATAGCCCATAATATCTTC	0.428000													1	1	1	1	1	1	1.000000	41	54	0	105	0	0	0	0	0	105	5
FSHR	0	broad.mit.edu	37	2	49195948	49195948	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:49195948G>A	ENST00000406846.2	-	9	862	c.743C>T	c.(742-744)tCg>tTg	p.S248L	FSHR_ENST00000304421.4_Missense_Mutation_p.S222L|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000346173.3_Intron	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	10	41	0	53	248					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.S248*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		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)	GTTGTAAGTCGACCTGGCCCT	0.443000									Gonadal Dysgenesis, 46 XX				1	0	1	1	0	1	0.997798	10	44	0	59	0	0	0	0	0	59	3
TSPYL6	388951	broad.mit.edu	37	2	54482837	54482837	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:54482837T>G	ENST00000317802.7	-	1	572	c.452A>C	c.(451-453)aAg>aCg	p.K151T	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	4	96	0	88	151					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						CTCCTCAGGCTTCACGTCCTC	0.567000													1	0	0	1	0	1	0.981717	7	106	0	97	1	6.956575e-01	37	0	0	97	2
SPTBN1	0	broad.mit.edu	37	2	54858519	54858519	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:54858519A>G	ENST00000333896.5	+	15	3681	c.3296A>G	c.(3295-3297)gAc>gGc	p.D1099G	SPTBN1_ENST00000356805.4_Missense_Mutation_p.D1112G	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	46	95	0	180	1112					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AACGAGATCGACAACTACGAG	0.587000													1	1	1	1	1	1	1.000000	53	104	0	196	1	1	50	51	0	196	5
CCDC88A	55704	broad.mit.edu	37	2	55561822	55561822	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:55561822G>T	ENST00000436346.1	-	15	2976	c.2135C>A	c.(2134-2136)tCt>tAt	p.S712Y	CCDC88A_ENST00000413716.2_Missense_Mutation_p.S712Y|CCDC88A_ENST00000263630.8_Missense_Mutation_p.S712Y|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S712Y	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	17	34	0	32	712					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			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ACACTTCAAAGATTCTACATT	0.378000													1	1	1	1	1	1	0.999996	18	36	0	32	0	5.448499e-01	1	4	0	32	5
CCDC88A	55704	broad.mit.edu	37	2	55646215	55646215	+	Translation_Start_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:55646215T>C	ENST00000436346.1	-	1	842	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CCDC88A_ENST00000413716.2_Start_Codon_SNP_p.M1V|CCDC88A_ENST00000471947.1_5'UTR|CCDC88A_ENST00000263630.8_Start_Codon_SNP_p.M1V|CCDC88A_ENST00000336838.6_Start_Codon_SNP_p.M1V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	13	22	0	35	1					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			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCGTTCTCCATTTTACAGAGT	0.388000													1	1	1	1	1	1	0.999970	15	23	0	38	0	3.554007e-01	1	2	0	38	5
EFEMP1	2202	broad.mit.edu	37	2	56102133	56102133	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:56102133G>T	ENST00000394555.2	-	8	1383	c.948C>A	c.(946-948)ttC>ttA	p.F316L	EFEMP1_ENST00000355426.3_Missense_Mutation_p.F316L|EFEMP1_ENST00000394554.1_Missense_Mutation_p.F316L|EFEMP1_ENST00000424836.2_Missense_Mutation_p.F178L	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	23	26	0	56	316	EGF-like 5; calcium-binding (Potential).|Mediates interaction with TIMP3.				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			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACATACATGAGAATTTCCCAG	0.383000													1	1	1	1	1	1	1.000000	24	26	0	61	0	9.998023e-01	0	21	0	61	5
BCL11A	53335	broad.mit.edu	37	2	60689471	60689471	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:60689471A>G	ENST00000335712.6	-	4	803	c.576T>C	c.(574-576)acT>acC	p.T192T	BCL11A_ENST00000537768.1_Silent_p.T40T|BCL11A_ENST00000538214.1_Silent_p.T158T|BCL11A_ENST00000356842.4_Silent_p.T192T|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Silent_p.T192T|BCL11A_ENST00000358510.4_Silent_p.T158T	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	15	50	0	79	192	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				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|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTAATCCATGAGTGTTCTGTG	0.488000			T	IGH@	B-CLL								1	1	1	1	1	1	0.999935	15	54	0	83	0	5.320814e-02	0	2	0	83	5
REL	5966	broad.mit.edu	37	2	61118857	61118857	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61118857G>A	ENST00000295025.7	+	2	370	c.50G>A	c.(49-51)aGg>aAg	p.R17K	REL_ENST00000394479.3_Missense_Mutation_p.R17K	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	31	44	0	74	17	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	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)			GAACAACCCAGGCAGAGGGGA	0.418000			A		Hodgkin Lymphoma								1	1	1	1	1	1	1.000000	31	47	0	77	0	1.629630e-01	1	1	0	77	5
PUS10	150962	broad.mit.edu	37	2	61189976	61189976	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61189976T>C	ENST00000316752.6	-	9	1034	c.773A>G	c.(772-774)gAa>gGa	p.E258G	PUS10_ENST00000407787.1_Missense_Mutation_p.E258G	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	7	5	0	11	258					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GAAATCCTCTTCCTTTATCTT	0.313000													0	1	1	1	1	1	0.991243	7	6	0	11	0	3.000000e-01	0	2	0	11	4
KIAA1841	84542	broad.mit.edu	37	2	61331021	61331021	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61331021C>T	ENST00000402291.1	+	13	1640	c.1399C>T	c.(1399-1401)Cgt>Tgt	p.R467C	KIAA1841_ENST00000356719.2_Missense_Mutation_p.R467C|KIAA1841_ENST00000295031.5_Missense_Mutation_p.R467C|KIAA1841_ENST00000453873.1_Missense_Mutation_p.R467C	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	14	20	0	47	467										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GGTTACACTTCGTGATCAAGG	0.418000													1	1	1	1	1	1	0.999940	14	20	0	47	0	1.801802e-01	0	2	0	47	5
USP34	9736	broad.mit.edu	37	2	61415812	61415812	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61415812G>A	ENST00000398571.2	-	80	10142	c.10066C>T	c.(10066-10068)Cgt>Tgt	p.R3356C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	21	20	0	53	3356					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			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTGCTAACACGCCGCCTTTTA	0.478000													1	1	1	1	1	1	1.000000	22	21	0	57	1	1	46	64	0	57	5
USP34	9736	broad.mit.edu	37	2	61575414	61575414	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61575414C>A	ENST00000398571.2	-	15	1952	c.1876G>T	c.(1876-1878)Gac>Tac	p.D626Y		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	22	37	0	37	626					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			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGATCATCGTCTTCATCTTCC	0.488000													1	1	1	1	1	1	1.000000	22	38	0	39	0	1.413210e-01	1	1	0	39	5
XPO1	7514	broad.mit.edu	37	2	61717829	61717829	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:61717829T>C	ENST00000401558.2	-	17	2697	c.1970A>G	c.(1969-1971)tAc>tGc	p.Y657C	XPO1_ENST00000404992.2_Missense_Mutation_p.Y657C|XPO1_ENST00000406957.1_Missense_Mutation_p.Y657C	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	11	60	0	72	657	Necessary for HTLV-1 Rex-mediated mRNA export.				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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GAGTAACATGTACTTTTCTAT	0.353000			Mis		CLL								1	1	1	1	1	1	0.999389	12	62	0	79	1	9.999999e-01	46	167	0	79	5
CCT4	10575	broad.mit.edu	37	2	62112207	62112207	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:62112207G>A	ENST00000394440.3	-	2	424	c.127_splice	c.e2-1	p.A43_splice	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Splice_Site_p.A43_splice|CCT4_ENST00000544185.1_5'UTR|CCT4_ENST00000538252.1_5'UTR	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	6	37	0	27	43					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ATCAGCAACCGCTGCAGATGG	0.393000													1	0	1	1	0	1	0.983613	7	38	0	28	1	9.999999e-01	61	299	0	28	3
UGP2	7360	broad.mit.edu	37	2	64083494	64083494	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:64083494G>A	ENST00000337130.5	+	2	550	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	UGP2_ENST00000467648.2_Missense_Mutation_p.R14Q|UGP2_ENST00000445915.2_Missense_Mutation_p.R34Q|UGP2_ENST00000394417.2_Missense_Mutation_p.R14Q|UGP2_ENST00000487469.1_Intron	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	57	112	0	177	25				R -> L (in Ref. 1).	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			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GAAGTCATTCGGCAAGAGCTA	0.398000													1	1	1	1	1	1	1.000000	63	124	0	190	1	1	66	88	0	190	5
LGALSL	29094	broad.mit.edu	37	2	64685453	64685453	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:64685453T>G	ENST00000238875.5	+	5	864	c.410T>G	c.(409-411)gTg>gGg	p.V137G	LGALSL_ENST00000409537.2_Missense_Mutation_p.C78G	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	22	159	0	159	137	Galectin.					intracellular	sugar binding										CGTTTCCGAGTGTTTGTGGAT	0.388000													1	0	1	1	1	1	0.999822	23	172	1	181	1	8.855132e-01	6	36	1	181	4
AFTPH	54812	broad.mit.edu	37	2	64779068	64779068	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:64779068G>T	ENST00000422803.1	+	2	774	c.460G>T	c.(460-462)Gat>Tat	p.D154Y	AFTPH_ENST00000238855.7_Missense_Mutation_p.D154Y|AFTPH_ENST00000238856.4_Missense_Mutation_p.D154Y|AFTPH_ENST00000409933.1_Missense_Mutation_p.D154Y			Q6ULP2	AFTIN_HUMAN	aftiphilin	16	38	0	48	154					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CTCTCCAGGAGATTTTAGAAC	0.388000													1	1	1	1	1	1	0.999989	17	40	0	52	1	9.000227e-01	7	5	0	52	5
SLC1A4	6509	broad.mit.edu	37	2	65231096	65231096	+	Missense_Mutation	SNP	G	G	A	rs140402535		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:65231096G>A	ENST00000234256.3	+	3	823	c.580G>A	c.(580-582)Gat>Aat	p.D194N	SLC1A4_ENST00000531327.1_5'UTR|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	4	32	0	30	194					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			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	GTATGCAACCGATTATAAAGT	0.408000													1	0	1	1	0	1	0.968768	6	37	0	38	0	1.821432e-01	1	4	0	38	3
ETAA1	54465	broad.mit.edu	37	2	67630550	67630550	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:67630550G>A	ENST00000272342.5	+	5	866	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	25	52	1	71	246						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TATAGTTCCCGAAATAGATAA	0.313000													1	0	1	1	1	1	0.999994	27	57	1	73	1	9.586913e-01	5	9	1	73	4
PLEK	5341	broad.mit.edu	37	2	68607896	68607896	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:68607896C>A	ENST00000234313.7	+	3	419	c.240C>A	c.(238-240)ttC>ttA	p.F80L		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	62	102	0	148	80	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			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AGGACCACTTCTTCCAGGCAG	0.463000													1	1	1	1	1	1	1.000000	70	110	0	165	0	5.068370e-01	0	4	0	165	5
PLEK	5341	broad.mit.edu	37	2	68613778	68613778	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:68613778A>G	ENST00000234313.7	+	5	796	c.617A>G	c.(616-618)gAa>gGa	p.E206G		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	34	64	0	105	206	DEP.				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			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GGAACTGCTGAAAACCCTTTC	0.507000													1	1	1	1	1	1	1.000000	37	72	0	115	0	8.097936e-01	0	7	0	115	5
BMP10	27302	broad.mit.edu	37	2	69093648	69093648	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:69093648G>T	ENST00000295379.1	-	2	548	c.390C>A	c.(388-390)ttC>ttA	p.F130L		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	17	25	0	51	130					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TGGACACATTGAAGAGGAGGG	0.453000													1	1	1	1	1	1	0.999999	19	25	0	58	0	0	0	0	0	58	5
NFU1	27247	broad.mit.edu	37	2	69633160	69633160	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:69633160C>A	ENST00000410022.2	-	6	744	c.539G>T	c.(538-540)aGa>aTa	p.R180I	NFU1_ENST00000462320.1_Missense_Mutation_p.R39I|NFU1_ENST00000394305.1_Missense_Mutation_p.R39I|NFU1_ENST00000303698.3_Missense_Mutation_p.R156I|NFU1_ENST00000471185.1_5'UTR	NM_001002755.2	NP_001002755.1	Q9UMS0	NFU1_HUMAN	NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)	12	27	0	37	180	NifU.				iron-sulfur cluster assembly	cytosol|mitochondrion|nucleus	4 iron, 4 sulfur cluster binding|iron ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	7						GTACCGTATTCTAGTATCTAA	0.323000													1	1	1	1	1	1	0.999566	12	31	0	43	1	9.999999e-01	52	63	0	43	5
TIA1	7072	broad.mit.edu	37	2	70441492	70441492	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:70441492C>A	ENST00000433529.2	-	12	1233	c.1023G>T	c.(1021-1023)caG>caT	p.Q341H	C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000445587.1_Intron|TIA1_ENST00000282574.4_Missense_Mutation_p.Q340H|TIA1_ENST00000415783.2_Missense_Mutation_p.Q330H	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	14	21	0	35	341					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TAAATCCTTGCTGGTTCCATG	0.378000													1	1	1	1	1	1	0.999986	16	24	0	40	1	1	47	63	0	40	5
MPHOSPH10	10199	broad.mit.edu	37	2	71360050	71360050	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71360050A>C	ENST00000244230.2	+	2	464	c.112A>C	c.(112-114)Aag>Cag	p.K38Q	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.K38Q|MPHOSPH10_ENST00000468427.1_3'UTR	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	10	30	0	50	38					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ATTGGCATCAAAGTTCACTTC	0.313000													1	1	1	1	1	1	0.999034	11	34	0	56	1	9.815070e-01	9	15	0	56	5
MPHOSPH10	10199	broad.mit.edu	37	2	71360080	71360080	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71360080G>T	ENST00000244230.2	+	2	494	c.142G>T	c.(142-144)Gac>Tac	p.D48Y	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.D48Y|MPHOSPH10_ENST00000468427.1_3'UTR	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	15	27	0	57	48					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AGTGCTTTATGACTTTAATAA	0.338000													1	1	1	1	1	1	0.999983	16	29	0	58	1	9.975010e-01	8	15	0	58	5
MPHOSPH10	10199	broad.mit.edu	37	2	71360500	71360500	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71360500A>C	ENST00000244230.2	+	2	914	c.562A>C	c.(562-564)Aac>Cac	p.N188H	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.N188H	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	23	58	0	94	188					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						CAAGGTGCAAAACAAAGGACA	0.388000													1	0	1	1	1	1	1.000000	25	60	0	107	1	9.999995e-01	29	38	0	107	4
MPHOSPH10	10199	broad.mit.edu	37	2	71368389	71368389	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71368389A>C	ENST00000244230.2	+	7	1688	c.1336A>C	c.(1336-1338)Aaa>Caa	p.K446Q		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	55	107	0	170	446					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						ACGTAAAGAAAAACCTAAAGA	0.343000													1	1	1	1	1	1	1.000000	60	113	0	180	1	1	33	54	0	180	5
ZNF638	27332	broad.mit.edu	37	2	71654320	71654320	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71654320T>G	ENST00000409544.1	+	24	5951	c.5321T>G	c.(5320-5322)tTt>tGt	p.F1774C	ZNF638_ENST00000264447.4_Missense_Mutation_p.F1774C|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.F714C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	35	64	0	99	1774					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAGCTTAATTTTGTTACTGTT	0.373000													1	1	1	1	1	1	1.000000	39	68	0	105	1	1	107	117	0	105	5
DYSF	8291	broad.mit.edu	37	2	71801397	71801397	+	Missense_Mutation	SNP	G	G	A	rs144599077		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71801397G>A	ENST00000258104.3	+	30	3521	c.3244G>A	c.(3244-3246)Gag>Aag	p.E1082K	DYSF_ENST00000410020.3_Missense_Mutation_p.E1100K|DYSF_ENST00000429174.2_Missense_Mutation_p.E1082K|DYSF_ENST00000413539.2_Missense_Mutation_p.E1113K|DYSF_ENST00000410041.1_Missense_Mutation_p.E1100K|DYSF_ENST00000394120.2_Missense_Mutation_p.E1083K|DYSF_ENST00000409744.1_Missense_Mutation_p.E1069K|DYSF_ENST00000409651.1_Missense_Mutation_p.E1114K|DYSF_ENST00000409582.3_Missense_Mutation_p.E1099K|DYSF_ENST00000409366.1_Missense_Mutation_p.E1083K|DYSF_ENST00000409762.1_Missense_Mutation_p.E1099K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	56	108	0	228	1082	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTTCCACCTCGAGTACCGCAA	0.662000													1	1	1	1	1	1	1.000000	60	127	0	257	0	1.053189e-01	1	1	0	257	5
DYSF	8291	broad.mit.edu	37	2	71825739	71825739	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:71825739T>C	ENST00000258104.3	+	33	3843	c.3566T>C	c.(3565-3567)gTg>gCg	p.V1189A	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Missense_Mutation_p.V1207A|DYSF_ENST00000429174.2_Missense_Mutation_p.V1189A|DYSF_ENST00000413539.2_Missense_Mutation_p.V1220A|DYSF_ENST00000410041.1_Missense_Mutation_p.V1207A|DYSF_ENST00000394120.2_Missense_Mutation_p.V1190A|DYSF_ENST00000409744.1_Missense_Mutation_p.V1176A|DYSF_ENST00000409651.1_Missense_Mutation_p.V1221A|DYSF_ENST00000409582.3_Missense_Mutation_p.V1206A|DYSF_ENST00000409366.1_Missense_Mutation_p.V1190A|DYSF_ENST00000409762.1_Missense_Mutation_p.V1206A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	13	55	0	72	1189	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGAAGACGGTGGTGGTGAAG	0.607000													1	1	1	1	1	1	0.999932	15	58	0	83	0	2.920973e-01	0	5	0	83	5
EXOC6B	23233	broad.mit.edu	37	2	72740314	72740314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:72740314C>A	ENST00000272427.6	-	11	1244	c.1114G>T	c.(1114-1116)Gaa>Taa	p.E372*	EXOC6B_ENST00000410104.1_Nonsense_Mutation_p.E372*	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	21	30	0	54	372					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCCCACAGTTCATCAATGTAG	0.408000													1	1	1	1	1	1	1.000000	22	33	0	57	0	5.161012e-01	0	4	0	57	5
EXOC6B	23233	broad.mit.edu	37	2	72958365	72958365	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:72958365C>A	ENST00000272427.6	-	4	467	c.337G>T	c.(337-339)Gca>Tca	p.A113S	EXOC6B_ENST00000410104.1_Missense_Mutation_p.A113S	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	7	10	0	7	113					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TCTTCCATTGCTATTACCAGC	0.398000													0	0	0	1	1	1	0.988776	7	10	0	10	0	0	0	1	0	10	2
ALMS1	7840	broad.mit.edu	37	2	73675274	73675274	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73675274G>T	ENST00000264448.6	+	8	1728	c.1617G>T	c.(1615-1617)aaG>aaT	p.K539N	ALMS1_ENST00000409009.1_Missense_Mutation_p.K497N|ALMS1_ENST00000377715.1_Missense_Mutation_p.K539N	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	31	44	0	61	539	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAACCAAAAGACATTAGCAG	0.428000													1	1	1	1	1	1	1.000000	33	44	0	62	0	1.882911e-01	0	2	0	62	5
ALMS1	7840	broad.mit.edu	37	2	73679645	73679645	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73679645G>T	ENST00000264448.6	+	8	6099	c.5988G>T	c.(5986-5988)aaG>aaT	p.K1996N	ALMS1_ENST00000409009.1_Missense_Mutation_p.K1954N|ALMS1_ENST00000377715.1_Missense_Mutation_p.K1996N	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	17	102	0	139	1996	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGAAACTCAAGATTTCAACTG	0.413000													1	1	1	1	1	1	0.999997	20	104	0	150	0	7.623852e-02	1	2	0	150	5
NAT8	9027	broad.mit.edu	37	2	73868634	73868634	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73868634C>T	ENST00000272425.3	-	2	271	c.122G>A	c.(121-123)cGa>cAa	p.R41Q		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	51	71	0	143	41					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TATGAGGGTTCGAGGCAGCTT	0.622000													1	1	1	1	1	1	1.000000	52	77	0	148	0	0	0	0	0	148	5
DUSP11	8446	broad.mit.edu	37	2	73989834	73989834	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:73989834T>G	ENST00000272444.3	-	9	1129	c.1088A>C	c.(1087-1089)aAt>aCt	p.N363T	DUSP11_ENST00000480948.1_5'UTR	NM_003584.2	NP_003575.2	O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	8	73	0	76	316					RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TCTGGAGTAATTATAAGGATA	0.502000													1	1	1	1	0	1	0.990524	8	78	0	89	0	9.456378e-01	1	52	0	89	4
DUSP11	8446	broad.mit.edu	37	2	74000942	74000942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74000942C>A	ENST00000443070.1	-	4	564	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	DUSP11_ENST00000272444.3_Nonsense_Mutation_p.E187*|DUSP11_ENST00000480948.1_5'UTR|DUSP11_ENST00000377706.4_Nonsense_Mutation_p.E140*			O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	39	62	0	117	140	Tyrosine-protein phosphatase.				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						TCTTTATTTTCTTTCAAAAAC	0.328000													1	1	1	1	1	1	1.000000	42	69	0	135	1	9.999214e-01	2	27	0	135	5
C2orf78	388960	broad.mit.edu	37	2	74043300	74043300	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74043300C>A	ENST00000409561.1	+	3	2071	c.1950C>A	c.(1948-1950)ttC>ttA	p.F650L		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	19	61	0	87	650										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AAACTGGATTCTCTTCCTCCA	0.512000													1	1	1	1	1	1	0.999999	21	63	0	95	0	0	0	0	0	95	5
SLC4A5	57835	broad.mit.edu	37	2	74458402	74458402	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74458402G>T	ENST00000423644.1	-	24	3026	c.2629C>A	c.(2629-2631)Cct>Act	p.P877T	SLC4A5_ENST00000377632.1_Silent_p.I936I|SLC4A5_ENST00000394019.2_Silent_p.I936I|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Silent_p.I936I|SLC4A5_ENST00000359484.4_Silent_p.I834I|SLC4A5_ENST00000357822.5_Silent_p.I936I|SLC4A5_ENST00000346834.4_Silent_p.I936I|SLC4A5_ENST00000358683.4_Silent_p.I834I			Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	21	50	0	92	23						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTCCCGTCAGGATGAAGACGA	0.557000													1	1	1	1	0	1	1.000000	23	52	0	97	1	2.339433e-01	2	1	0	97	4
SLC4A5	57835	broad.mit.edu	37	2	74477584	74477584	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74477584G>T	ENST00000394019.2	-	17	1936	c.1539C>A	c.(1537-1539)ttC>ttA	p.F513L	SLC4A5_ENST00000377632.1_Missense_Mutation_p.F513L|SLC4A5_ENST00000423644.1_Missense_Mutation_p.F513L|SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377634.4_Missense_Mutation_p.F513L|SLC4A5_ENST00000359484.4_Missense_Mutation_p.F449L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.F513L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.F513L|SLC4A5_ENST00000358683.4_Missense_Mutation_p.F449L	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	56	146	0	218	513						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCCATCATAGAAGTCACTTG	0.532000											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1	1	0	1	1.000000	65	160	0	244	0	0	0	0	0	244	3
WBP1	23559	broad.mit.edu	37	2	74687176	74687176	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74687176C>T	ENST00000393972.3	+	4	654	c.451_splice	c.e4+1	p.R151_splice	WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Splice_Site_p.R114_splice|WBP1_ENST00000233615.2_Splice_Site_p.R117_splice			Q96G27	WBP1_HUMAN	WW domain binding protein 1	27	69	0	104	117							WW domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	8						GCTTGACCTTCGTGAGTGACT	0.527000													1	1	1	1	1	1	1.000000	31	75	0	111	1	1	94	138	0	111	5
MOGS	7841	broad.mit.edu	37	2	74688986	74688986	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:74688986G>A	ENST00000233616.4	-	4	2092	c.1930C>T	c.(1930-1932)Cac>Tac	p.H644Y	MOGS_ENST00000452063.2_Missense_Mutation_p.H538Y|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	23	58	0	94	644					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			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGGGCCCAGTGCAGCTCATCC	0.637000													1	1	1	1	1	1	1.000000	24	62	0	99	1	1	76	106	0	99	5
TACR1	6869	broad.mit.edu	37	2	75425876	75425876	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:75425876C>A	ENST00000305249.4	-	1	950	c.185G>T	c.(184-186)aGa>aTa	p.R62I	TACR1_ENST00000409848.3_Missense_Mutation_p.R62I	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	17	38	0	56	62					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			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGTCCTCATTCTTTTGTGGGC	0.522000													1	1	1	1	1	1	0.999990	17	38	0	57	0	0	0	0	0	57	5
MRPL19	9801	broad.mit.edu	37	2	75882241	75882241	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:75882241A>C	ENST00000393909.2	+	6	734	c.709A>C	c.(709-711)Aat>Cat	p.N237H	MRPL19_ENST00000409374.1_Missense_Mutation_p.N237H|MRPL19_ENST00000358788.6_Intron	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	18	20	0	35	237					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						GGAACGTCCAAATTTTAATAT	0.323000													1	1	1	1	0	1	0.999998	18	20	0	38	1	1	63	94	0	38	4
CTNNA2	1496	broad.mit.edu	37	2	80646632	80646632	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:80646632T>C	ENST00000466387.1	+	13	1920	c.1196T>C	c.(1195-1197)tTg>tCg	p.L399S	CTNNA2_ENST00000402739.4_Missense_Mutation_p.L399S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000343114.3_Missense_Mutation_p.L78S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.L399S|CTNNA2_ENST00000361291.4_Missense_Mutation_p.L433S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	24	51	0	62	399					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			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AATGTTCCTTTGCTAGTTCTC	0.393000													1	1	1	1	1	1	1.000000	28	56	0	73	0	0	0	0	0	73	5
CTNNA2	1496	broad.mit.edu	37	2	80874726	80874726	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:80874726C>T	ENST00000466387.1	+	22	3171	c.2447C>T	c.(2446-2448)tCg>tTg	p.S816L	CTNNA2_ENST00000402739.4_Missense_Mutation_p.S864L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S816L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S771L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S495L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S816L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S850L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	33	69	0	100	864					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			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGTGCCACATCGCTTATCCAG	0.448000													1	1	1	1	1	1	1.000000	35	79	0	104	0	0	0	1	0	104	5
KCMF1	56888	broad.mit.edu	37	2	85255047	85255047	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:85255047C>T	ENST00000409785.3	+	2	411	c.52C>T	c.(52-54)Cga>Tga	p.R18*		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	12	17	0	28	18						intracellular	ligase activity|zinc ion binding			ovary(3)	3						AGGAAATTTTCGAGGTCGCAG	0.353000													1	1	1	1	1	1	0.999728	12	17	0	29	1	9.999997e-01	40	26	0	29	5
GNLY	10578	broad.mit.edu	37	2	85924740	85924740	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:85924740G>A	ENST00000409696.3	+	5	604	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	GNLY_ENST00000263863.4_Missense_Mutation_p.V123M|GNLY_ENST00000524600.1_Missense_Mutation_p.V150M	NM_012483.2	NP_036615.2	P22749	GNLY_HUMAN	granulysin	22	38	0	73	123	Saposin B-type.				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						CCAGGGCCTCGTGGCCGGAGA	0.567000													1	1	1	1	1	1	1.000000	24	41	0	80	0	1	1	159	0	80	5
TEX37	200523	broad.mit.edu	37	2	88828941	88828941	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:88828941C>A	ENST00000303254.3	+	4	634	c.492C>A	c.(490-492)gtC>gtA	p.V164V		NM_152670.2	NP_689883.1			testis expressed 37	9	60	0	69																		GCCATATAGTCAAGGTCCCCA	0.522000													1	1	1	1	1	1	0.998751	11	66	0	79	0	0	0	0	0	79	5
PROM2	150696	broad.mit.edu	37	2	95950732	95950732	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:95950732C>T	ENST00000317620.9	+	15	1877	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	PROM2_ENST00000317668.4_Missense_Mutation_p.R582W|PROM2_ENST00000403131.2_Missense_Mutation_p.R582W|PROM2_ENST00000542147.1_Intron	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	8	9	0	26	582						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CAACAAGCTACGGCAGGAGTT	0.627000													1	0	1	1	1	1	0.994442	8	12	0	30	1	9.998657e-01	19	17	0	30	4
GPAT2	150763	broad.mit.edu	37	2	96690545	96690545	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:96690545C>T	ENST00000434632.1	-	15	1863	c.1404G>A	c.(1402-1404)acG>acA	p.T468T	GPAT2_ENST00000359548.4_Silent_p.T468T|GPAT2_ENST00000377137.3_Silent_p.T468T|GPAT2_ENST00000453542.1_Silent_p.T397T			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	80	166	0	306	468					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						AGAGCAGCAGCGTTGCCATAA	0.657000													1	1	1	1	1	1	1.000000	88	194	0	361	0	0	0	1	0	361	5
ADRA2B	151	broad.mit.edu	37	2	96780585	96780585	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:96780585C>T	ENST00000409345.3	-	1	1399	c.1304G>A	c.(1303-1305)cGg>cAg	p.R435Q		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	13	17	0	40	438					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			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CAGGATCCTCCGGAAGGCACG	0.632000													1	1	1	1	1	1	0.999940	14	20	0	46	0	0	0	0	0	46	5
STARD7	56910	broad.mit.edu	37	2	96858113	96858113	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:96858113A>G	ENST00000337288.5	-	6	1220	c.837T>C	c.(835-837)ttT>ttC	p.F279F	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	40	75	0	123	279	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						TCACCTCATCAAATGACTTGT	0.488000													1	1	1	1	1	1	1.000000	41	81	0	136	1	1	50	36	0	136	5
KANSL3	55683	broad.mit.edu	37	2	97279270	97279270	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:97279270C>A	ENST00000599854.1	-	6	956	c.489G>T	c.(487-489)aaG>aaT	p.K163N	KANSL3_ENST00000441706.2_Missense_Mutation_p.K163N|KANSL3_ENST00000440133.1_Missense_Mutation_p.K44N|KANSL3_ENST00000431828.1_Missense_Mutation_p.K250N|KANSL3_ENST00000487070.1_5'UTR	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	49	88	0	159	250																	CCCAGGGCCTCTTCAGTAGGA	0.473000													1	1	1	1	1	1	1.000000	53	100	0	187	1	9.929681e-01	7	11	0	187	5
LMAN2L	81562	broad.mit.edu	37	2	97373532	97373532	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:97373532T>C	ENST00000264963.4	-	7	845	c.823A>G	c.(823-825)Aca>Gca	p.T275A	LMAN2L_ENST00000377079.4_Missense_Mutation_p.T286A|LMAN2L_ENST00000426463.2_Missense_Mutation_p.T141A|LMAN2L_ENST00000534882.1_Missense_Mutation_p.T130A|LMAN2L_ENST00000537039.1_Missense_Mutation_p.T137A	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	24	67	0	105	275					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			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CTCTCCACTGTCAGTTCAAAC	0.453000													1	1	1	1	1	1	1.000000	26	71	0	114	1	9.962339e-01	7	21	0	114	5
LMAN2L	81562	broad.mit.edu	37	2	97405653	97405653	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:97405653A>G	ENST00000264963.4	-	1	147	c.125T>C	c.(124-126)gTc>gCc	p.V42A	LMAN2L_ENST00000537039.1_5'UTR|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000534882.1_5'UTR|LMAN2L_ENST00000377079.4_Missense_Mutation_p.V42A	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	37	67	0	144	42					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			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						ACCCGCCCCGACTTGCTGTGG	0.632000													1	1	1	1	1	1	1.000000	40	95	0	152	1	9.421334e-01	7	7	0	152	5
ACTR1B	10120	broad.mit.edu	37	2	98277092	98277092	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:98277092T>C	ENST00000289228.5	-	3	347	c.131A>G	c.(130-132)cAc>cGc	p.H44R		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	39	77	0	169	44						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CACCCGCATGTGCTTCGGCCG	0.597000													1	1	1	1	1	1	1.000000	40	92	0	198	1	1	61	62	0	198	5
VWA3B	200403	broad.mit.edu	37	2	98928336	98928336	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:98928336G>A	ENST00000477737.1	+	27	3780	c.3576G>A	c.(3574-3576)gcG>gcA	p.A1192A	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	7	17	0	35	1192										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGAAAGAAGCGGACACGCAGG	0.602000													1	1	1	1	1	1	0.986135	7	18	0	37	0	0	0	0	0	37	5
CNGA3	1261	broad.mit.edu	37	2	99006196	99006196	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99006196C>T	ENST00000393504.1	+	6	942	c.525C>T	c.(523-525)atC>atT	p.I175I	CNGA3_ENST00000409937.1_Silent_p.I179I|CNGA3_ENST00000436404.2_Silent_p.I157I|CNGA3_ENST00000272602.2_Silent_p.I175I	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	48	84	0	129	175					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGACCGCCATCGCCCTGCCTG	0.557000													1	1	1	1	0	1	1.000000	52	88	0	134	0	0	0	0	0	134	4
UNC50	25972	broad.mit.edu	37	2	99227280	99227280	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99227280T>C	ENST00000409975.1	+	2	1504	c.374T>C	c.(373-375)tTt>tCt	p.F125S	UNC50_ENST00000409347.1_Missense_Mutation_p.F125S|UNC50_ENST00000357765.2_Missense_Mutation_p.F108S			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	4	143	0	158	108					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ATGGGATTCTTTGAGACAATA	0.398000													0	0	1	0	0	1	0.891366	4	157	0	174	1	8.899018e-01	7	151	0	174	1
MGAT4A	11320	broad.mit.edu	37	2	99294911	99294911	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99294911C>A	ENST00000393487.1	-	3	431	c.118G>T	c.(118-120)Gaa>Taa	p.E40*	MGAT4A_ENST00000409391.1_Nonsense_Mutation_p.E40*|MGAT4A_ENST00000264968.2_Nonsense_Mutation_p.E40*	NM_012214.2	NP_036346.1	Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A	15	24	0	30	40					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			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GCAAGGAATTCTCGTTGATAA	0.338000													1	1	1	1	1	1	0.999967	15	25	0	30	1	8.497979e-01	2	6	0	30	5
KIAA1211L	343990	broad.mit.edu	37	2	99439550	99439550	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99439550C>T	ENST00000397899.2	-	7	1517	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K		NM_207362.2	NP_997245.2			KIAA1211-like	7	11	0	6																		GCGACGTCTTCGGGAGCACAG	0.726000													0	1	0	0	0	1	0.994215	8	13	0	6	1	9.339002e-01	5	5	0	6	1
TXNDC9	10190	broad.mit.edu	37	2	99944079	99944079	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:99944079A>G	ENST00000264255.3	-	3	482	c.227T>C	c.(226-228)aTc>aCc	p.I76T	TXNDC9_ENST00000409434.1_Missense_Mutation_p.I76T	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	12	27	0	53	76	Thioredoxin.				cell redox homeostasis		protein binding			lung(1)	1						TTCACTAGGGATTTCTCTGTA	0.388000													1	1	1	1	1	1	0.999575	12	30	0	59	1	9.999862e-01	28	39	0	59	5
REV1	51455	broad.mit.edu	37	2	100019523	100019523	+	Missense_Mutation	SNP	C	C	A	rs1046340		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100019523C>A	ENST00000258428.3	-	20	3441	c.3213G>T	c.(3211-3213)aaG>aaT	p.K1071N	REV1_ENST00000393445.3_Missense_Mutation_p.K1070N|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	10	22	0	29	1071					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						tgtttcttttcttttctttCA	0.383000								Direct reversal of damage					1	1	1	1	0	1	0.998260	10	24	0	29	1	9.998913e-01	26	29	0	29	4
AFF3	3899	broad.mit.edu	37	2	100210589	100210589	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100210589C>T	ENST00000317233.4	-	14	1769	c.1534G>A	c.(1534-1536)Gac>Aac	p.D512N	AFF3_ENST00000409579.1_Missense_Mutation_p.D537N|AFF3_ENST00000356421.2_Missense_Mutation_p.D537N|AFF3_ENST00000409236.1_Missense_Mutation_p.D512N	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	61	120	0	204	512					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGGCAAACGTCGGGGACTTTC	0.547000													1	1	1	1	1	1	1.000000	64	126	0	214	0	0	0	0	0	214	5
LONRF2	164832	broad.mit.edu	37	2	100917219	100917219	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:100917219C>T	ENST00000393437.3	-	4	1591	c.952G>A	c.(952-954)Gca>Aca	p.A318T	LONRF2_ENST00000409647.1_Missense_Mutation_p.A75T	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	11	23	0	38	318					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TGCACATTTGCTGTAGCTGAA	0.353000													1	1	1	1	1	1	0.999206	11	24	0	40	0	0	0	0	0	40	5
CHST10	9486	broad.mit.edu	37	2	101010188	101010188	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:101010188G>A	ENST00000264249.3	-	7	975	c.590C>T	c.(589-591)tCt>tTt	p.S197F	CHST10_ENST00000542617.1_Missense_Mutation_p.S245F|CHST10_ENST00000409701.1_Missense_Mutation_p.S197F	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	30	57	0	94	197					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CTTAAATGCAGAAATAAGTCT	0.393000													1	1	1	1	1	1	1.000000	30	58	0	97	1	9.950709e-01	5	15	0	97	5
IL1R2	7850	broad.mit.edu	37	2	102626170	102626170	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:102626170A>C	ENST00000332549.3	+	3	443	c.214A>C	c.(214-216)Aat>Cat	p.N72H	IL1R2_ENST00000393414.2_Missense_Mutation_p.N72H|IL1R2_ENST00000441002.1_Missense_Mutation_p.N72H	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	90	147	0	308	72	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	ATGGCATAAAAATGACTCTGC	0.612000													1	1	1	1	1	1	1.000000	98	156	0	333	1	9.999999e-01	30	14	0	333	5
SLC9A4	389015	broad.mit.edu	37	2	103141567	103141567	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:103141567T>G	ENST00000295269.4	+	10	2360	c.1903T>G	c.(1903-1905)Tta>Gta	p.L635V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	83	116	0	187	635					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCAGAACACCTTAAGGGAGAG	0.512000													1	1	1	1	1	1	1.000000	87	123	0	208	0	0	0	0	0	208	5
FHL2	2274	broad.mit.edu	37	2	106002940	106002940	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:106002940C>T	ENST00000409177.1	-	2	503	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	FHL2_ENST00000409807.1_Missense_Mutation_p.E12K|FHL2_ENST00000393352.3_Missense_Mutation_p.E12K|FHL2_ENST00000344213.4_Missense_Mutation_p.E122K|FHL2_ENST00000322142.8_Missense_Mutation_p.E12K|FHL2_ENST00000408995.1_Missense_Mutation_p.E12K|FHL2_ENST00000607522.1_Missense_Mutation_p.E12K|FHL2_ENST00000336660.5_Missense_Mutation_p.E12K|FHL2_ENST00000358129.4_Missense_Mutation_p.E12K|FHL2_ENST00000393353.3_Missense_Mutation_p.E12K			Q14192	FHL2_HUMAN	four and a half LIM domains 2	25	64	0	116	12	LIM zinc-binding 2.				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			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						AAGAGAGATTCGTTGCAATGG	0.498000													1	1	1	1	1	1	1.000000	29	73	0	131	1	1	245	260	0	131	5
SLC5A7	60482	broad.mit.edu	37	2	108614432	108614432	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:108614432T>G	ENST00000264047.2	+	5	863	c.587T>G	c.(586-588)tTt>tGt	p.F196C	SLC5A7_ENST00000540517.1_Missense_Mutation_p.F91C|SLC5A7_ENST00000409059.1_Missense_Mutation_p.F196C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	27	52	0	102	196					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTTGCATTTTTGTAGGGCTG	0.398000													1	1	1	1	1	1	1.000000	28	57	0	106	0	0	0	0	0	106	5
SULT1C2	6819	broad.mit.edu	37	2	108921632	108921632	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:108921632T>G	ENST00000326853.5	+	7	993	c.540T>G	c.(538-540)gtT>gtG	p.V180V	SULT1C2_ENST00000437390.2_Silent_p.V183V|SULT1C2_ENST00000409880.1_Silent_p.V132V|SULT1C2_ENST00000251481.6_Silent_p.V169V	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	43	65	0	86	169					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTTCAGTGGTTTGGGGTTCCT	0.428000													1	1	1	1	1	1	1.000000	45	73	0	95	1	9.999064e-01	15	13	0	95	5
GCC2	9648	broad.mit.edu	37	2	109086776	109086776	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109086776A>C	ENST00000309863.6	+	6	1705	c.991A>C	c.(991-993)Aat>Cat	p.N331H		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	19	40	0	44	331					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			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACAAGTAGTAAATGAAAAAGT	0.289000													1	1	1	1	1	1	0.999998	19	40	0	44	1	7.787910e-01	2	6	0	44	5
GCC2	9648	broad.mit.edu	37	2	109098819	109098819	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109098819A>G	ENST00000309863.6	+	11	3971	c.3257A>G	c.(3256-3258)gAa>gGa	p.E1086G		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	17	28	0	42	1086					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			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAATTATTAGAAGTACAGATT	0.328000													1	1	1	1	1	1	0.999996	18	31	0	46	1	9.995463e-01	15	13	0	46	5
RANBP2	5903	broad.mit.edu	37	2	109381241	109381241	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109381241G>A	ENST00000283195.6	+	20	4372	c.4246G>A	c.(4246-4248)Gaa>Aaa	p.E1416K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	26	59	0	89	1416					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(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCCAAAGAAAGAAGGTCACTG	0.398000													1	1	1	1	1	1	1.000000	29	61	0	91	1	9.696765e-01	6	9	0	91	5
EDAR	10913	broad.mit.edu	37	2	109513452	109513452	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:109513452G>A	ENST00000409271.1	-	12	1797	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	EDAR_ENST00000376651.1_Missense_Mutation_p.R452W|EDAR_ENST00000258443.2_Missense_Mutation_p.R420W			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	8	14	0	21	420					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCATCCAGCCGCTCAATCTGC	0.572000													1	1	1	1	1	1	0.997267	9	14	0	22	1	5.184371e-01	2	2	0	22	5
SOWAHC	65124	broad.mit.edu	37	2	110373597	110373597	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:110373597G>A	ENST00000356454.3	+	1	1687	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S		NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN	sosondowah ankyrin repeat domain family member C	10	31	0	39	511																	ACCTGTTAAAGGCCACTCGCC	0.483000													1	1	1	1	1	1	0.998022	10	33	0	43	1	3.557883e-01	2	3	0	43	5
NPHP1	4867	broad.mit.edu	37	2	110881402	110881402	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:110881402T>C	ENST00000316534.4	-	20	2241	c.2168A>G	c.(2167-2169)gAc>gGc	p.D723G	NPHP1_ENST00000355301.4_Missense_Mutation_p.D604G|NPHP1_ENST00000445609.2_Missense_Mutation_p.D667G|NPHP1_ENST00000393272.3_Missense_Mutation_p.D722G|NPHP1_ENST00000417665.1_Missense_Mutation_p.D701G			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	13	59	0	48	722					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			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ACCCAAGAAGTCATAGGTCTG	0.493000													1	1	1	1	1	1	0.999930	15	60	0	57	0	9.296973e-01	1	19	0	57	5
ANAPC1	64682	broad.mit.edu	37	2	112621315	112621315	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:112621315C>T	ENST00000341068.3	-	9	1761	c.989G>A	c.(988-990)cGc>cAc	p.R330H		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	26	45	0	90	330					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				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGAGGTTGAGCGACTCTGGCT	0.473000													1	1	1	1	1	1	1.000000	28	53	0	101	0	2.833350e-01	1	2	0	101	5
MERTK	10461	broad.mit.edu	37	2	112779123	112779123	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:112779123C>A	ENST00000295408.4	+	17	2571	c.2314C>A	c.(2314-2316)Ctt>Att	p.L772I	MERTK_ENST00000409780.1_Missense_Mutation_p.L596I|MERTK_ENST00000421804.2_Missense_Mutation_p.L772I			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	18	70	0	80	772	Protein kinase.				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			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CATAGAAAGTCTTGCAGACCG	0.458000													1	1	1	1	1	1	0.999998	20	77	0	83	1	3.736320e-01	3	3	0	83	5
ZC3H8	84524	broad.mit.edu	37	2	112991726	112991726	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:112991726T>G	ENST00000409573.1	-	5	721	c.592A>C	c.(592-594)Aaa>Caa	p.K198Q	ZC3H8_ENST00000272570.5_Missense_Mutation_p.K198Q			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	6	6	0	14	198					apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						AGAAAATATTTACAAATTTGT	0.308000													0	0	1	1	1	1	0.979771	6	6	0	15	1	9.623772e-01	7	3	0	15	3
ZC3H6	376940	broad.mit.edu	37	2	113079393	113079393	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113079393A>C	ENST00000409871.1	+	8	1438	c.1037A>C	c.(1036-1038)aAa>aCa	p.K346T	ZC3H6_ENST00000343936.4_Missense_Mutation_p.K346T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	5	7	0	11	346							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GACAACTGTAAATTTTCCCAT	0.308000													0	0	1	1	1	1	0.952174	5	8	0	11	0	1.750000e-01	0	2	0	11	3
ZC3H6	376940	broad.mit.edu	37	2	113082687	113082687	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113082687G>A	ENST00000409871.1	+	11	2400	c.1999G>A	c.(1999-2001)Gct>Act	p.A667T	ZC3H6_ENST00000343936.4_Missense_Mutation_p.A667T	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	16	37	0	57	667							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AGTGCAAAGAGCTCTTTTTGT	0.517000													1	1	1	1	1	1	0.999989	17	41	0	63	0	0	0	0	0	63	5
POLR1B	84172	broad.mit.edu	37	2	113308539	113308539	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113308539G>A	ENST00000263331.5	+	5	1302	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	POLR1B_ENST00000541869.1_Missense_Mutation_p.R279Q|POLR1B_ENST00000409894.3_Missense_Mutation_p.R241Q|POLR1B_ENST00000537335.1_Missense_Mutation_p.R30Q|POLR1B_ENST00000417433.2_Missense_Mutation_p.R185Q	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	20	82	0	86	241					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			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTTATTTACCGAAAAGAACTG	0.378000													1	1	1	1	1	1	0.999998	20	89	0	95	1	6.790306e-01	5	7	0	95	5
IL1A	3552	broad.mit.edu	37	2	113537171	113537171	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113537171T>G	ENST00000263339.3	-	5	547	c.392A>C	c.(391-393)aAa>aCa	p.K131T		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	14	24	0	40	131					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			breast(2)|large_intestine(1)|lung(9)	12						GAATTCGTATTTGATGATCCT	0.403000													1	1	1	1	1	1	0.999965	15	26	0	40	0	0	1	0	0	40	5
IL1B	3553	broad.mit.edu	37	2	113590973	113590973	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113590973G>T	ENST00000263341.2	-	4	489	c.279C>A	c.(277-279)ttC>ttA	p.F93L	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	36	51	0	92	93					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			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TGAAGGGAAAGAAGGTGCTCA	0.532000													1	1	1	1	1	1	1.000000	38	55	0	97	0	7.747378e-01	1	5	0	97	5
IL36B	27177	broad.mit.edu	37	2	113783740	113783740	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113783740T>G	ENST00000259213.4	-	5	438	c.331A>C	c.(331-333)Aac>Cac	p.N111H		NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	12	29	0	55	111					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						acatccaggtttatgcatgtg	0.473000													1	1	1	1	1	1	0.999557	12	32	0	62	0	0	0	0	0	62	5
IL36B	27177	broad.mit.edu	37	2	113788717	113788717	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113788717T>G	ENST00000259213.4	-	3	136	c.29A>C	c.(28-30)aAa>aCa	p.K10T	IL36B_ENST00000327407.2_Missense_Mutation_p.K10T	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	9	45	0	34	10					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						AGCATAGGATTTGGGTGCTGC	0.463000													1	1	1	1	1	1	0.997708	10	50	0	36	0	0	0	0	0	36	5
PSD4	23550	broad.mit.edu	37	2	113940100	113940100	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:113940100G>A	ENST00000245796.6	+	2	262	c.67G>A	c.(67-69)Gac>Aac	p.D23N	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000441564.2_Missense_Mutation_p.D23N	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	22	52	0	90	23					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTACTTGGGAGACAGCCTGGA	0.607000													1	1	1	1	1	1	1.000000	25	54	0	94	0	2.457635e-01	0	3	0	94	5
DPP10	57628	broad.mit.edu	37	2	116548868	116548868	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:116548868C>A	ENST00000410059.1	+	19	2116	c.1636C>A	c.(1636-1638)Cct>Act	p.P546T	DPP10_ENST00000310323.8_Missense_Mutation_p.P539T|DPP10_ENST00000409163.1_Missense_Mutation_p.P496T|DPP10_ENST00000393147.2_Missense_Mutation_p.P550T	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	11	31	0	50	546					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAAAGAACTTCCTTTACAGTT	0.313000													1	1	1	1	1	1	0.999952	15	36	0	57	0	0	0	0	0	57	5
DPP10	57628	broad.mit.edu	37	2	116598356	116598356	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:116598356T>G	ENST00000410059.1	+	25	2693	c.2213T>G	c.(2212-2214)tTa>tGa	p.L738*	DPP10_ENST00000310323.8_Nonsense_Mutation_p.L731*|DPP10_ENST00000409163.1_Nonsense_Mutation_p.L688*|DPP10_ENST00000393147.2_Nonsense_Mutation_p.L742*	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	7	35	0	38	738					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCAGCAGAATTAATCAAGCAC	0.328000													1	1	1	1	1	1	0.983479	7	40	0	48	0	3.208121e-01	0	7	0	48	5
CCDC93	54520	broad.mit.edu	37	2	118705682	118705682	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:118705682C>T	ENST00000376300.2	-	15	1360	c.1224_splice	c.e15+1	p.R408_splice	CCDC93_ENST00000319432.5_Splice_Site_p.R407_splice	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	70	124	0	190	408								p.R408L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						AACACTTACTCGACAATGTGC	0.398000													1	1	1	1	1	1	1.000000	83	133	0	220	1	9.387597e-01	3	7	0	220	5
CCDC93	54520	broad.mit.edu	37	2	118731517	118731517	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:118731517C>A	ENST00000376300.2	-	11	992	c.855G>T	c.(853-855)gaG>gaT	p.E285D	CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Missense_Mutation_p.E284D	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	8	11	0	21	285										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TCTGCTTGATCTCAGCAGAGC	0.552000													1	1	1	1	1	1	0.998849	10	13	0	24	1	9.942853e-01	10	7	0	24	5
INSIG2	51141	broad.mit.edu	37	2	118864481	118864481	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:118864481T>C	ENST00000245787.4	+	4	742		c.e4+2		INSIG2_ENST00000485520.1_Splice_Site	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	9	88	0	121						ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TGTTTACCAGTAAGTATTAAT	0.358000													1	1	1	1	1	1	0.997354	10	93	0	130	1	9.982223e-01	3	0	0	130	5
RALB	5899	broad.mit.edu	37	2	121043504	121043504	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:121043504C>A	ENST00000272519.5	+	3	439	c.169C>A	c.(169-171)Ctt>Att	p.L57I	RALB_ENST00000470417.1_Intron|RALB_ENST00000474855.2_Missense_Mutation_p.L79I|RALB_ENST00000404963.3_Missense_Mutation_p.L78I|RALB_ENST00000420510.1_Missense_Mutation_p.L57I	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	17	40	0	62	57					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			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				GAAAGTGGTTCTTGATGGGGA	0.418000													1	1	1	1	1	1	0.999999	20	43	0	63	1	1	32	58	0	63	5
RALB	5899	broad.mit.edu	37	2	121043521	121043521	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:121043521T>G	ENST00000272519.5	+	3	456	c.186T>G	c.(184-186)gtT>gtG	p.V62V	RALB_ENST00000470417.1_Intron|RALB_ENST00000474855.2_Silent_p.V84V|RALB_ENST00000404963.3_Silent_p.V83V|RALB_ENST00000420510.1_Silent_p.V62V	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	14	38	0	62	62					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			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				GGGAAGAAGTTCAGATAGATA	0.413000													1	1	1	1	1	1	0.999976	16	40	0	64	1	1	49	61	0	64	5
GLI2	2736	broad.mit.edu	37	2	121745903	121745903	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:121745903C>T	ENST00000452319.1	+	14	2473	c.2413C>T	c.(2413-2415)Cgc>Tgc	p.R805C	GLI2_ENST00000314490.11_Missense_Mutation_p.R477C|GLI2_ENST00000361492.4_Missense_Mutation_p.R805C			P10070	GLI2_HUMAN	GLI family zinc finger 2	7	10	0	17	805	Ser-rich.				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	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCTGCAGGAGCGCCGCGACAG	0.736000													0	1	1	1	0	1	0.994961	8	10	0	17	0	0	0	0	0	17	3
MYO7B	4648	broad.mit.edu	37	2	128347738	128347738	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:128347738A>C	ENST00000389524.4	+	16	1979	c.1926A>C	c.(1924-1926)aaA>aaC	p.K642N	MYO7B_ENST00000409816.2_Missense_Mutation_p.K642N|MYO7B_ENST00000428314.1_Missense_Mutation_p.K642N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	11	21	0	18	642	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGCTGATGAAAATCCTGACCA	0.512000													1	1	1	1	1	1	0.999660	12	22	0	19	0	1.366366e-01	1	1	0	19	5
SAP130	79595	broad.mit.edu	37	2	128783864	128783864	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:128783864C>A	ENST00000357702.5	-	2	212	c.81G>T	c.(79-81)atG>atT	p.M27I	SAP130_ENST00000259234.6_Start_Codon_SNP_p.M1I|SAP130_ENST00000259235.3_Missense_Mutation_p.M27I	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	20	48	0	63	27					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTTGAGAACTCATTTCCACCT	0.423000													1	1	1	1	1	1	1.000000	22	55	0	74	1	3.340343e-01	2	2	0	74	5
TUBA3E	112714	broad.mit.edu	37	2	130951526	130951526	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:130951526C>T	ENST00000312988.7	-	4	989	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	75	131	0	213	297					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					TTGGCTGGCTCGAAGCAGGCA	0.597000													1	1	1	1	1	1	1.000000	77	138	0	231	0	0	0	0	0	231	5
AMER3	205147	broad.mit.edu	37	2	131521461	131521461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:131521461C>T	ENST00000423981.1	+	2	1926	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	AMER3_ENST00000321420.4_Nonsense_Mutation_p.R606*	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3	39	61	0	131																		GGAAGAGACACGAGGTCACTC	0.587000													1	1	1	1	1	1	1.000000	45	64	0	146	0	0	0	0	0	146	5
POTEE	445582	broad.mit.edu	37	2	132020932	132020932	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:132020932C>A	ENST00000356920.5	+	15	1998	c.1904C>A	c.(1903-1905)tCt>tAt	p.S635Y	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	6	15	0	25	635							ATP binding										ACTTAGCTTTCTCTTAGTTGT	0.323000													0	0	1	1	0	1	0.972704	6	16	0	22	0	0	0	0	0	22	2
GPR39	2863	broad.mit.edu	37	2	133402871	133402871	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:133402871C>T	ENST00000329321.3	+	2	1523	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	21	48	0	103	352						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAGCAGTTTCGGCGGGTGTT	0.632000													1	1	1	1	1	1	1.000000	26	66	0	116	1	1	434	476	0	116	5
NCKAP5	344148	broad.mit.edu	37	2	133547778	133547778	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:133547778C>T	ENST00000409261.1	-	13	1283	c.909_splice	c.e13-1	p.E304_splice	NCKAP5_ENST00000409213.1_Splice_Site_p.E304_splice|NCKAP5_ENST00000405974.3_Splice_Site_p.E304_splice|NCKAP5_ENST00000317721.6_Splice_Site_p.E304_splice	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	4	16	0	19	304							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGTTGGTGTTCCTGAAAAAGC	0.483000													1	0	1	1	1	1	0.897419	4	16	0	23	0	0	0	0	0	23	4
MGAT5	4249	broad.mit.edu	37	2	135099273	135099273	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:135099273C>A	ENST00000409645.1	+	8	1172	c.920C>A	c.(919-921)tCt>tAt	p.S307Y	MGAT5_ENST00000281923.2_Missense_Mutation_p.S307Y			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	6	35	0	52	307					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTAATTACATCTCTGTACTTA	0.398000													1	0	1	1	1	1	0.983613	7	38	0	58	0	1.436822e-01	1	3	0	58	4
ZRANB3	84083	broad.mit.edu	37	2	135965024	135965024	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:135965024A>G	ENST00000401392.1	-	19	3195	c.2983T>C	c.(2983-2985)Tca>Cca	p.S995P	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.S995P|ZRANB3_ENST00000264159.6_Missense_Mutation_p.S997P			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	13	123	0	164	997						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GGGAGCTTTGAAGTCCAGGTA	0.378000													1	1	1	1	0	1	0.999950	16	136	0	182	0	1.787027e-01	1	6	0	182	4
ZRANB3	84083	broad.mit.edu	37	2	135988495	135988495	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:135988495G>A	ENST00000401392.1	-	13	1754	c.1542C>T	c.(1540-1542)ttC>ttT	p.F514F	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Silent_p.F514F|ZRANB3_ENST00000264159.6_Silent_p.F514F			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	9	8	0	28	514						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTTCTTTTTCGAACTAGGAAA	0.323000													1	1	1	1	1	1	0.999070	10	10	0	29	1	9.091787e-01	2	5	0	29	5
MCM6	4175	broad.mit.edu	37	2	136598517	136598517	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:136598517T>C	ENST00000264156.2	-	17	2414	c.2354A>G	c.(2353-2355)cAt>cGt	p.H785R		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	21	28	0	56	785					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			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	AATTAGAACATGATCCTGTGA	0.423000													1	1	1	1	1	1	1.000000	21	30	0	66	1	1	153	133	0	66	5
DARS	1615	broad.mit.edu	37	2	136673886	136673886	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:136673886A>C	ENST00000264161.4	-	11	1231	c.1016T>G	c.(1015-1017)tTt>tGt	p.F339C	DARS_ENST00000537273.1_Missense_Mutation_p.F239C	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	6	67	0	101	339					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			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	TGGCTCCAAAAATTTGAATGG	0.363000													1	0	1	1	0	1	0.967009	6	71	0	113	1	9.999180e-01	31	270	0	113	3
LRP1B	53353	broad.mit.edu	37	2	141081612	141081612	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141081612C>T	ENST00000389484.3	-	81	13335	c.12364G>A	c.(12364-12366)Gat>Aat	p.D4122N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	11	21	0	43	4122					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		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)		TCAAAGATATCGATCCTATGT	0.303000										TSP Lung(27;0.18)			1	1	1	1	1	1	0.999186	11	25	0	49	0	0	0	1	0	49	5
LRP1B	53353	broad.mit.edu	37	2	141128753	141128753	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141128753C>A	ENST00000389484.3	-	70	11841	c.10870G>T	c.(10870-10872)Gat>Tat	p.D3624Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	8	10	0	18	3624	LDL-receptor class A 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		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)		tttaCCTCATCTGAACCATCA	0.299000										TSP Lung(27;0.18)			1	0	1	1	1	1	0.997656	9	11	0	19	0	0	0	0	0	19	4
LRP1B	53353	broad.mit.edu	37	2	141298598	141298598	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141298598C>A	ENST00000389484.3	-	45	8428	c.7457G>T	c.(7456-7458)aGa>aTa	p.R2486I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	28	56	0	68	2486					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		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)		ACAATTCACTCTCCCATTGGG	0.403000										TSP Lung(27;0.18)			1	1	1	1	1	1	1.000000	30	61	0	76	0	0	0	0	0	76	5
LRP1B	53353	broad.mit.edu	37	2	141607716	141607716	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141607716G>A	ENST00000389484.3	-	29	5865	c.4894C>T	c.(4894-4896)Cga>Tga	p.R1632*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	26	42	0	71	1632					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		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)		ATAAAAGCTCGTTTAATGGTT	0.338000										TSP Lung(27;0.18)			1	1	1	1	1	1	1.000000	33	43	0	80	0	1.931191e-01	0	2	0	80	5
LRP1B	53353	broad.mit.edu	37	2	141641477	141641477	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:141641477C>T	ENST00000389484.3	-	25	5049	c.4078G>A	c.(4078-4080)Gaa>Aaa	p.E1360K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	35	56	0	100	1360					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		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)		TTGGCCACTTCGATTTGGTCC	0.498000										TSP Lung(27;0.18)			1	1	1	1	1	1	1.000000	38	61	0	105	0	0	1	0	0	105	5
KYNU	8942	broad.mit.edu	37	2	143798010	143798010	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:143798010C>T	ENST00000264170.4	+	13	1313	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	KYNU_ENST00000409512.1_Missense_Mutation_p.A352V	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	12	22	0	38	352					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TTTAAGCAAGCGACAATGAAG	0.338000													1	1	1	1	1	1	0.999927	14	24	0	43	0	6.078482e-01	0	5	0	43	5
MBD5	0	broad.mit.edu	37	2	149220204	149220204	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149220204C>T	ENST00000407073.1	+	7	1164	c.167C>T	c.(166-168)aCt>aTt	p.T56I	MBD5_ENST00000404807.1_Missense_Mutation_p.T56I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	12	41	0	55	56	MBD.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TACCTGCTTACTGATGGAACA	0.353000													1	1	1	1	1	1	0.999728	13	50	0	67	0	2.965017e-01	1	4	0	67	5
MBD5	0	broad.mit.edu	37	2	149226980	149226980	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149226980C>T	ENST00000407073.1	+	9	2465	c.1468C>T	c.(1468-1470)Ccc>Tcc	p.P490S	MBD5_ENST00000404807.1_Missense_Mutation_p.P490S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	11	67	0	81	490						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAAGGTTCCACCCAGGTCACC	0.493000													1	1	1	1	1	1	0.999365	12	69	0	91	1	6.909993e-02	2	1	0	91	5
KIF5C	3800	broad.mit.edu	37	2	149679780	149679780	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149679780G>A	ENST00000435030.1	+	2	569	c.201G>A	c.(199-201)gcG>gcA	p.A67A				O60282	KIF5C_HUMAN	kinesin family member 5C	15	20	0	24	67	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATGCATGTGCGAAGCAAATTG	0.413000													1	1	1	1	1	1	0.999973	15	21	0	24	0	0	0	0	0	24	5
KIF5C	3800	broad.mit.edu	37	2	149818500	149818500	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:149818500G>T	ENST00000435030.1	+	11	1352	c.984G>T	c.(982-984)aaG>aaT	p.K328N	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.K233N|KIF5C_ENST00000397413.1_Missense_Mutation_p.K96N			O60282	KIF5C_HUMAN	kinesin family member 5C	29	50	0	61	328	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGACCATCAAGAATACAGTCT	0.358000													1	1	1	1	1	1	1.000000	34	53	0	69	0	0	0	1	0	69	5
RBM43	375287	broad.mit.edu	37	2	152107545	152107545	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152107545T>G	ENST00000331426.5	-	4	1100	c.949A>C	c.(949-951)Agt>Cgt	p.S317R		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	13	29	0	48	317							nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		TATCTCGAACTTAATTGTTCA	0.343000													1	1	1	1	1	1	0.999803	13	30	0	50	1	3.691027e-01	2	2	0	50	5
RBM43	375287	broad.mit.edu	37	2	152107614	152107614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152107614C>A	ENST00000331426.5	-	4	1031	c.880G>T	c.(880-882)Gag>Tag	p.E294*		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	14	23	0	52	294							nucleotide binding|RNA binding			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		ATAAATGTCTCTTTTCTAAGC	0.348000													1	1	1	1	1	1	0.999968	15	24	0	52	1	6.346620e-01	3	2	0	52	5
RIF1	55183	broad.mit.edu	37	2	152273332	152273332	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152273332A>C	ENST00000243326.4	+	5	903	c.420A>C	c.(418-420)atA>atC	p.I140I	RIF1_ENST00000430328.2_Silent_p.I140I|RIF1_ENST00000433166.2_Silent_p.I140I|RIF1_ENST00000444746.2_Silent_p.I140I|RIF1_ENST00000453091.2_Silent_p.I140I|RIF1_ENST00000428287.2_Silent_p.I140I			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	23	29	0	61	140					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATCCAGTATAATTGATTCAT	0.289000													1	1	1	1	1	1	1.000000	23	31	0	65	0	1.879699e-01	1	1	0	65	5
RIF1	55183	broad.mit.edu	37	2	152303026	152303026	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152303026G>T	ENST00000243326.4	+	19	2664	c.2181G>T	c.(2179-2181)gaG>gaT	p.E727D	RIF1_ENST00000430328.2_Missense_Mutation_p.E727D|RIF1_ENST00000444746.2_Missense_Mutation_p.E727D|RIF1_ENST00000453091.2_Missense_Mutation_p.E727D|RIF1_ENST00000428287.2_Missense_Mutation_p.E727D			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	23	46	0	86	727					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CAGCAGAAGAGAACTTGTGCT	0.408000													1	1	1	1	1	1	1.000000	24	51	0	89	0	0	1	0	0	89	5
RIF1	55183	broad.mit.edu	37	2	152320659	152320659	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152320659C>A	ENST00000243326.4	+	29	5108	c.4625C>A	c.(4624-4626)tCt>tAt	p.S1542Y	RIF1_ENST00000430328.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000444746.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000453091.2_Missense_Mutation_p.S1542Y|RIF1_ENST00000428287.2_Missense_Mutation_p.S1542Y			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	18	37	0	61	1542					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGAAGAGCATCTCAGGGTTTG	0.428000													1	1	1	1	1	1	0.999998	19	38	0	64	1	6.490666e-01	2	4	0	64	5
RIF1	55183	broad.mit.edu	37	2	152325056	152325056	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152325056G>T	ENST00000243326.4	+	31	7299	c.6816G>T	c.(6814-6816)aaG>aaT	p.K2272N	RIF1_ENST00000430328.2_Intron|RIF1_ENST00000444746.2_Missense_Mutation_p.K2272N|RIF1_ENST00000453091.2_Intron|RIF1_ENST00000428287.2_Intron			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	7	53	0	72	2272	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGAGCTCAAAGAAGTGTTTAG	0.358000													1	0	1	1	1	1	0.990952	8	56	0	81	0	9.187457e-01	0	20	0	81	4
NEB	4703	broad.mit.edu	37	2	152534175	152534175	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152534175C>A	ENST00000427231.2	-	34	3880	c.3678G>T	c.(3676-3678)aaG>aaT	p.K1226N	NEB_ENST00000604864.1_Missense_Mutation_p.K1226N|NEB_ENST00000409198.1_Missense_Mutation_p.K1226N|NEB_ENST00000172853.10_Missense_Mutation_p.K1226N|NEB_ENST00000603639.1_Missense_Mutation_p.K1226N|NEB_ENST00000397345.3_Missense_Mutation_p.K1226N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	49	101	0	168	1226					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			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCTGTACTTCTTTTCATTCA	0.458000													1	1	1	1	1	1	1.000000	51	104	0	171	0	0	0	0	0	171	5
NEB	4703	broad.mit.edu	37	2	152554096	152554096	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152554096A>G	ENST00000427231.2	-	14	1421	c.1219T>C	c.(1219-1221)Ttc>Ctc	p.F407L	NEB_ENST00000604864.1_Missense_Mutation_p.F407L|NEB_ENST00000409198.1_Missense_Mutation_p.F407L|NEB_ENST00000172853.10_Missense_Mutation_p.F407L|NEB_ENST00000603639.1_Missense_Mutation_p.F407L|NEB_ENST00000397345.3_Missense_Mutation_p.F407L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	23	32	0	56	407					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			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGAGCTTGAATTTGGGGGTC	0.328000													1	1	1	1	1	1	1.000000	27	41	0	64	0	0	0	0	0	64	5
CACNB4	785	broad.mit.edu	37	2	152695763	152695763	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152695763G>T	ENST00000360283.6	-	13	1591	c.1334C>A	c.(1333-1335)tCt>tAt	p.S445Y	CACNB4_ENST00000534999.1_Missense_Mutation_p.S444Y|CACNB4_ENST00000427385.1_Missense_Mutation_p.S460Y|CACNB4_ENST00000539935.1_Missense_Mutation_p.S478Y|CACNB4_ENST00000201943.5_Missense_Mutation_p.S416Y|CACNB4_ENST00000397327.2_Missense_Mutation_p.S431Y			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	10	23	0	37	478					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			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GCTATGCTGAGAACTGGAAGA	0.463000													1	1	1	1	1	1	0.998334	10	23	0	38	0	0	0	0	0	38	5
CACNB4	785	broad.mit.edu	37	2	152739811	152739811	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:152739811C>T	ENST00000360283.6	-	2	376	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	CACNB4_ENST00000534999.1_Missense_Mutation_p.R40Q|CACNB4_ENST00000427385.1_Missense_Mutation_p.R56Q|CACNB4_ENST00000539935.1_Missense_Mutation_p.R74Q|CACNB4_ENST00000475848.1_5'UTR|CACNB4_ENST00000201943.5_Missense_Mutation_p.R74Q|CACNB4_ENST00000397327.2_Missense_Mutation_p.R27Q			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	28	74	0	106	74					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			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	TCTCTCCTGTCGAATTGCTTC	0.498000													1	1	1	1	1	1	1.000000	31	87	0	128	0	0	0	0	0	128	5
FMNL2	114793	broad.mit.edu	37	2	153497338	153497338	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:153497338G>A	ENST00000288670.9	+	25	3446	c.3079G>A	c.(3079-3081)Gag>Aag	p.E1027K	FMNL2_ENST00000475377.2_Missense_Mutation_p.E402K	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	8	14	0	20	1027					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GCAGCAGCAAGAGTTAATTGC	0.378000													1	1	1	1	1	1	0.994006	8	14	0	20	1	9.994299e-01	14	21	0	20	5
GALNT13	114805	broad.mit.edu	37	2	155306999	155306999	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:155306999T>G	ENST00000392825.3	+	13	2174	c.1607T>G	c.(1606-1608)aTg>aGg	p.M536R	GALNT13_ENST00000409237.1_3'UTR|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	11	30	0	41	536	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GTGCCTACAATGCAGGACTGT	0.448000													1	1	1	1	1	1	0.999794	13	32	0	44	0	0	0	0	0	44	5
GALNT5	11227	broad.mit.edu	37	2	158142583	158142583	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:158142583C>A	ENST00000259056.4	+	3	2163	c.1678C>A	c.(1678-1680)Ctt>Att	p.L560I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	14	32	0	39	560	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AGTTCGGATTCTTCGCCTCAA	0.358000													1	1	1	1	1	1	0.999978	16	36	0	45	0	0	0	0	0	45	5
WDSUB1	151525	broad.mit.edu	37	2	160112755	160112755	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:160112755C>A	ENST00000409990.3	-	9	1340	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	WDSUB1_ENST00000409124.1_Nonsense_Mutation_p.E362*|WDSUB1_ENST00000392796.3_Nonsense_Mutation_p.E362*|WDSUB1_ENST00000359774.4_Nonsense_Mutation_p.E362*|WDSUB1_ENST00000358147.4_Nonsense_Mutation_p.E270*	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	10	26	0	34	362	SAM.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TTCAACAGTTCTTTTCCATCA	0.338000													1	1	1	1	1	1	0.999129	11	28	0	34	1	9.865758e-01	2	21	0	34	5
BAZ2B	29994	broad.mit.edu	37	2	160289317	160289317	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:160289317T>G	ENST00000392783.2	-	9	2346	c.1851A>C	c.(1849-1851)gaA>gaC	p.E617D	BAZ2B_ENST00000343439.5_Missense_Mutation_p.E615D|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E615D|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E617D	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	9	18	0	38	617	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						cctcatcttcttcttcatcat	0.333000													1	0	1	1	1	1	0.996859	9	18	0	38	0	1.264368e-01	0	2	0	38	4
LY75-CD302	0	broad.mit.edu	37	2	160637474	160637474	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:160637474T>G	ENST00000504764.1	-	36	5164	c.5137A>C	c.(5137-5139)Aat>Cat	p.N1713H	LY75_ENST00000554112.1_Missense_Mutation_p.N1713H|LY75_ENST00000553424.1_Missense_Mutation_p.N1657H|CD302_ENST00000480212.1_5'UTR|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.N1657H|CD302_ENST00000429078.2_Missense_Mutation_p.N72H|CD302_ENST00000259053.4_Missense_Mutation_p.N72H	NM_001198759.1	NP_001185688.1	O60449	LY75_HUMAN		17	25	0	37	1581					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										ATAAAAGCATTTTCTTCTTCA	0.343000													1	1	1	1	1	1	0.999993	17	28	0	37	0	6.234170e-01	1	4	0	37	5
FAP	2191	broad.mit.edu	37	2	163076364	163076364	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:163076364A>G	ENST00000188790.4	-	7	692	c.486_splice	c.e7+1	p.L162_splice	FAP_ENST00000443424.1_Splice_Site_p.L137_splice	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	8	20	0	33	162					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	p.L162*(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AACACTTACTAATTTACTCCC	0.328000													1	1	1	1	1	1	0.996475	9	23	0	37	0	9.731743e-01	0	20	0	37	5
COBLL1	22837	broad.mit.edu	37	2	165551180	165551180	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:165551180T>C	ENST00000375458.2	-	11	2943	c.2722A>G	c.(2722-2724)Atg>Gtg	p.M908V	COBLL1_ENST00000194871.6_Missense_Mutation_p.M1013V|COBLL1_ENST00000342193.4_Missense_Mutation_p.M946V|COBLL1_ENST00000392717.2_Missense_Mutation_p.M984V|COBLL1_ENST00000409184.3_Missense_Mutation_p.M946V	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	13	29	0	52	984										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GAAGGCAGCATATCCCTTTCT	0.468000													1	1	1	1	1	1	0.999908	14	31	0	56	0	6.918965e-01	1	6	0	56	5
COBLL1	22837	broad.mit.edu	37	2	165551579	165551579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:165551579C>A	ENST00000375458.2	-	11	2544	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*	COBLL1_ENST00000194871.6_Nonsense_Mutation_p.E880*|COBLL1_ENST00000342193.4_Nonsense_Mutation_p.E813*|COBLL1_ENST00000392717.2_Nonsense_Mutation_p.E851*|COBLL1_ENST00000409184.3_Nonsense_Mutation_p.E813*	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	36	58	0	79	851										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ATGGCAGTTTCTTTCACATTC	0.418000													1	1	1	1	1	1	1.000000	38	60	0	86	0	8.189115e-01	1	6	0	86	5
SCN3A	6328	broad.mit.edu	37	2	166020945	166020945	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166020945G>A	ENST00000360093.3	-	6	1050	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	SCN3A_ENST00000409101.3_Missense_Mutation_p.R187C|SCN3A_ENST00000283254.7_Missense_Mutation_p.R187C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	12	33	0	46	187						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CATGGATCACGAAGAAACGTA	0.373000													1	1	1	1	1	1	0.999776	13	36	0	48	0	0	0	0	0	48	5
SCN2A	6326	broad.mit.edu	37	2	166165696	166165696	+	Silent	SNP	C	C	T	rs2228981		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166165696C>T	ENST00000357398.3	+	6	917	c.627C>T	c.(625-627)aaC>aaT	p.N209N	SCN2A_ENST00000375437.2_Intron|SCN2A_ENST00000283256.6_Intron|SCN2A_ENST00000375427.2_Silent_p.N209N			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	5	21	0	28	209					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AATTTGTAAACCTAGGCAATG	0.348000													1	0	1	1	1	1	0.943342	5	25	0	32	0	0	0	0	0	32	4
SCN1A	6323	broad.mit.edu	37	2	166848303	166848303	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166848303A>C	ENST00000423058.2	-	26	5499	c.5482T>G	c.(5482-5484)Tta>Gta	p.L1828V	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.L1828V|SCN1A_ENST00000409050.1_Missense_Mutation_p.L1800V|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1817V	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	48	78	0	138	1828						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACTGAGATAATTTTTCAAAT	0.468000													1	1	1	1	1	1	1.000000	49	80	0	141	0	0	0	0	0	141	5
SCN1A	6323	broad.mit.edu	37	2	166866290	166866290	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166866290G>T	ENST00000423058.2	-	20	3958	c.3941C>A	c.(3940-3942)tCt>tAt	p.S1314Y	AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.S1314Y|SCN1A_ENST00000409050.1_Missense_Mutation_p.S1286Y|SCN1A_ENST00000375405.3_Missense_Mutation_p.S1303Y	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	16	25	0	61	1314						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGTCCTGAGAGATTTGATGGC	0.383000													1	1	1	1	1	1	0.999993	17	28	0	70	0	0	0	0	0	70	5
SCN1A	6323	broad.mit.edu	37	2	166897798	166897798	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166897798G>T	ENST00000423058.2	-	13	2375	c.2358C>A	c.(2356-2358)gcC>gcA	p.A786A	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.A786A|SCN1A_ENST00000409050.1_Silent_p.A758A|SCN1A_ENST00000375405.3_Silent_p.A775A|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	19	42	0	60	786						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGTGCTCCATGGCCATGAAAA	0.383000													1	1	1	1	1	1	0.999999	20	42	0	65	0	0	0	0	0	65	5
SCN1A	6323	broad.mit.edu	37	2	166911148	166911148	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:166911148G>A	ENST00000423058.2	-	4	619	c.602_splice	c.e4+1	p.A201_splice	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Splice_Site_p.A201_splice|SCN1A_ENST00000409050.1_Splice_Site_p.A201_splice|SCN1A_ENST00000375405.3_Splice_Site_p.A201_splice|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	10	27	0	33	201						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGGCACTTACGCAAATGTAAT	0.343000													1	1	1	1	1	1	0.999095	11	30	0	38	0	0	0	0	0	38	5
SCN9A	6335	broad.mit.edu	37	2	167056352	167056352	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:167056352A>C	ENST00000375387.4	-	27	5140	c.4800T>G	c.(4798-4800)atT>atG	p.I1600M	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.I1588M|SCN9A_ENST00000409435.1_Missense_Mutation_p.I1599M|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1600M			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	11	100	0	145	1599						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AATACGTTTCAATCAAATCAG	0.408000													1	1	1	1	1	1	0.998602	11	106	0	164	0	0	0	1	0	164	5
SCN7A	6332	broad.mit.edu	37	2	167284347	167284347	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:167284347C>A	ENST00000409855.1	-	17	2930	c.2804G>T	c.(2803-2805)tGg>tTg	p.W935L		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	16	17	0	35	935					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACACTTAAACCAATTGTTCTC	0.448000													1	1	1	1	1	1	0.999996	17	18	0	38	0	0	0	0	0	38	5
XIRP2	129446	broad.mit.edu	37	2	168099780	168099780	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168099780C>T	ENST00000409195.1	+	9	1967	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	XIRP2_ENST00000409273.1_Silent_p.I404I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.I626I|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	8	47	0	64	451					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCCAACCCATCGACACACTTG	0.448000													1	1	1	1	1	1	0.995478	9	49	0	69	0	0	0	0	0	69	5
XIRP2	129446	broad.mit.edu	37	2	168102751	168102751	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168102751G>A	ENST00000409195.1	+	9	4938	c.4849G>A	c.(4849-4851)Gac>Aac	p.D1617N	XIRP2_ENST00000409273.1_Missense_Mutation_p.D1395N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D1617N|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	13	23	0	40	1442					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCCAAAAGGGACTGTACTGA	0.333000													1	1	1	1	1	1	0.999921	14	26	0	41	0	0	0	0	0	41	5
XIRP2	129446	broad.mit.edu	37	2	168103196	168103196	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168103196C>A	ENST00000409195.1	+	9	5383	c.5294C>A	c.(5293-5295)tCa>tAa	p.S1765*	XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S1543*|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S1765*|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	21	37	0	70	1590					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CACACAGAGTCAAATGAAACA	0.403000													1	1	1	1	1	1	1.000000	22	38	0	72	0	0	0	0	0	72	5
XIRP2	129446	broad.mit.edu	37	2	168103954	168103954	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168103954C>A	ENST00000409195.1	+	9	6141	c.6052C>A	c.(6052-6054)Ctt>Att	p.L2018I	XIRP2_ENST00000409273.1_Missense_Mutation_p.L1796I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2018I|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	18	35	0	72	1843					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAGGTTAATCTTCCAAAAGC	0.438000													1	1	1	1	1	1	0.999998	19	39	0	75	0	0	0	0	0	75	5
XIRP2	129446	broad.mit.edu	37	2	168106676	168106676	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168106676C>A	ENST00000409195.1	+	9	8863	c.8774C>A	c.(8773-8775)tCt>tAt	p.S2925Y	XIRP2_ENST00000409273.1_Missense_Mutation_p.S2703Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2925Y|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	29	53	0	108	2750					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGAACAAATCTTTCTTTTCC	0.378000													1	1	1	1	1	1	1.000000	32	57	0	112	0	0	0	0	0	112	5
XIRP2	129446	broad.mit.edu	37	2	168107532	168107532	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168107532G>A	ENST00000409195.1	+	9	9719	c.9630G>A	c.(9628-9630)aaG>aaA	p.K3210K	XIRP2_ENST00000409273.1_Silent_p.K2988K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.K3210K|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	35	64	0	110	3035					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGTAGAGAAGAGGTCTGAAA	0.458000													1	1	1	1	1	1	1.000000	35	65	0	115	0	0	0	0	0	115	5
XIRP2	129446	broad.mit.edu	37	2	168114449	168114449	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:168114449G>T	ENST00000409728.1	+	11	1581	c.1492G>T	c.(1492-1494)Gat>Tat	p.D498Y	XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.D243Y|XIRP2_ENST00000409043.1_Missense_Mutation_p.D465Y|XIRP2_ENST00000409756.2_Missense_Mutation_p.D465Y|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.D498Y	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	26	30	0	72	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGAAATTATGATGAAGGTTT	0.328000													1	1	1	1	1	1	1.000000	27	30	0	75	0	0	0	0	0	75	5
ABCB11	8647	broad.mit.edu	37	2	169828434	169828434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:169828434C>A	ENST00000263817.6	-	14	1685	c.1561G>T	c.(1561-1563)Gaa>Taa	p.E521*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	16	41	0	59	521	ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTTGCATCTTCTCTGCCATAG	0.473000													1	1	1	1	1	1	0.999973	16	45	0	62	0	0	0	0	0	62	5
LRP2	4036	broad.mit.edu	37	2	170002290	170002290	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170002290G>A	ENST00000263816.3	-	70	13240	c.12955C>T	c.(12955-12957)Cga>Tga	p.R4319*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	8	53	0	56	4319					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			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				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)	TGAAAGATTCGAACTTGAGTG	0.363000													1	1	1	1	1	1	0.995272	9	60	0	66	0	2.065754e-01	1	5	0	66	5
LRP2	4036	broad.mit.edu	37	2	170042459	170042459	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170042459G>T	ENST00000263816.3	-	50	9684	c.9399C>A	c.(9397-9399)ttC>ttA	p.F3133L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	25	30	0	72	3133	EGF-like 11.				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			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				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)	AGGAACAATAGAAACTGGTTA	0.443000													1	1	1	1	1	1	1.000000	27	32	0	73	0	4.396263e-01	0	3	0	73	5
LRP2	4036	broad.mit.edu	37	2	170063458	170063458	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170063458T>G	ENST00000263816.3	-	39	7057	c.6772A>C	c.(6772-6774)Att>Ctt	p.I2258L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	45	86	0	150	2258					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			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				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)	ATCCTTGCAATTATATCTAAA	0.433000													1	1	1	1	1	1	1.000000	47	91	0	165	0	0	0	0	0	165	5
LRP2	4036	broad.mit.edu	37	2	170081836	170081836	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170081836C>A	ENST00000263816.3	-	33	5807	c.5522G>T	c.(5521-5523)aGa>aTa	p.R1841I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	10	36	0	34	1841					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			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				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)	TGACTGAGTTCTAGGATTGGT	0.388000													1	1	1	1	1	1	0.997889	10	39	0	38	0	0	0	0	0	38	5
LRP2	4036	broad.mit.edu	37	2	170094769	170094769	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170094769A>C	ENST00000263816.3	-	27	4623	c.4338T>G	c.(4336-4338)atT>atG	p.I1446M		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	11	26	0	39	1446					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			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				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)	TGTCGGCAATAATTTTGTTCT	0.383000													1	1	1	1	1	1	0.999566	12	31	0	43	0	0	0	0	0	43	5
LRP2	4036	broad.mit.edu	37	2	170135978	170135978	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170135978C>T	ENST00000263816.3	-	12	1754	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H	LRP2_ENST00000443831.1_Missense_Mutation_p.R490H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	29	40	0	93	490					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			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				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)	CATATCTATGCGGTTGACCTT	0.428000													1	1	1	1	1	1	1.000000	30	44	0	99	0	0	0	0	0	99	5
KLHL41	10324	broad.mit.edu	37	2	170367292	170367292	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170367292G>T	ENST00000284669.1	+	1	1081	c.1004G>T	c.(1003-1005)aGa>aTa	p.R335I	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41	30	53	0	82																		CAGATTCCCAGAAATCATTCC	0.428000													1	1	1	1	1	1	1.000000	32	58	0	87	0	0	0	0	0	87	5
KLHL41	10324	broad.mit.edu	37	2	170377387	170377387	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170377387G>A	ENST00000284669.1	+	5	1656	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	BBS5_ENST00000554017.1_Missense_Mutation_p.E465K|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.E465K|KLHL41_ENST00000463400.1_3'UTR	NM_006063.2	NP_006054.2			kelch-like family member 41	17	37	0	39																		TGTAATGACCGAATTTCCCCA	0.343000													1	1	1	1	0	1	0.999989	17	40	0	45	0	0	0	0	0	45	4
PPIG	9360	broad.mit.edu	37	2	170487452	170487452	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170487452G>A	ENST00000260970.3	+	10	936	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	PPIG_ENST00000409714.3_Missense_Mutation_p.R224Q|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000462903.1_Missense_Mutation_p.R239Q|PPIG_ENST00000448752.2_Missense_Mutation_p.R239Q	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	12	17	0	37	239	Arg/Lys-rich (basic).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R239Q(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAAATTCCCGAAAACACAAG	0.333000													1	0	1	1	0	1	0.999713	12	17	0	37	1	1	35	51	0	37	3
PHOSPHO2	493911	broad.mit.edu	37	2	170557600	170557600	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170557600G>A	ENST00000359744.3	+	4	507	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	24	36	0	53	40							metal ion binding|pyridoxal phosphatase activity	p.R40Q(1)		breast(1)|large_intestine(1)|lung(6)|skin(2)	10						GATTCTTATCGAAAAGGATTT	0.363000													1	1	1	1	1	1	1.000000	26	39	0	61	1	9.439516e-01	2	8	0	61	5
KLHL23	151230	broad.mit.edu	37	2	170591663	170591663	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170591663A>C	ENST00000392647.2	+	2	383	c.139A>C	c.(139-141)Att>Ctt	p.I47L	KLHL23_ENST00000272797.4_Missense_Mutation_p.I47L|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	31	54	0	107	47	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TTCAGGCATAATTTTCCATTG	0.343000													1	1	1	1	1	1	1.000000	37	57	0	122	1	8.794862e-01	3	4	0	122	5
UBR3	130507	broad.mit.edu	37	2	170843295	170843295	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:170843295G>A	ENST00000272793.5	+	25	3825	c.3775G>A	c.(3775-3777)Gca>Aca	p.A1259T	UBR3_ENST00000418381.1_Missense_Mutation_p.A1259T|UBR3_ENST00000392631.1_Missense_Mutation_p.A80T			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	28	35	0	72	1259					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ACTGTTACAAGCATCCTCAGG	0.353000													1	1	1	1	1	1	1.000000	32	36	0	79	1	9.985309e-01	4	12	0	79	5
SP5	389058	broad.mit.edu	37	2	171573092	171573092	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:171573092C>A	ENST00000375281.3	+	2	537	c.375C>A	c.(373-375)ttC>ttA	p.F125L		NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	10	34	0	52	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CCTACGAGTTCTCGCCGGTCA	0.726000													1	0	1	1	0	1	0.998981	11	38	0	58	1	8.153443e-01	8	5	0	58	3
GAD1	2571	broad.mit.edu	37	2	171715386	171715386	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:171715386C>T	ENST00000358196.3	+	16	2144	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	11	27	0	48	532			R -> Q (in dbSNP:rs769402).		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			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCCTCAACGACGGGAAAAGCT	0.453000													1	1	1	1	1	1	0.999063	11	32	0	58	1	4.970992e-01	3	2	0	58	5
RAPGEF4	11069	broad.mit.edu	37	2	173866010	173866010	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:173866010C>T	ENST00000264111.6	+	17	1780	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D	RAPGEF4_ENST00000397087.3_Silent_p.D388D|RAPGEF4_ENST00000538974.1_Silent_p.D361D|RAPGEF4_ENST00000535187.1_Silent_p.D312D|RAPGEF4_ENST00000539331.1_Silent_p.D379D|RAPGEF4_ENST00000409036.1_Silent_p.D532D|RAPGEF4_ENST00000397081.3_Silent_p.D532D|RAPGEF4_ENST00000540783.1_Silent_p.D379D			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	13	51	0	76	532	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			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTTTAAATGACTTTATTATGA	0.383000													1	1	1	1	1	1	0.999932	15	58	0	81	0	4.771930e-02	0	2	0	81	5
CIR1	9541	broad.mit.edu	37	2	175215392	175215392	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175215392G>A	ENST00000342016.3	-	9	765	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	5	16	0	20	225	Interaction with RP9 (By similarity).|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			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						AATTACCTGAGAAGTTTCTGT	0.328000													0	0	1	0	0	1	0.946083	5	16	0	21	1	9.989410e-01	29	33	0	21	1
SCRN3	79634	broad.mit.edu	37	2	175265748	175265748	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175265748A>G	ENST00000272732.6	+	4	454	c.372A>G	c.(370-372)gaA>gaG	p.E124E	SCRN3_ENST00000409673.3_Silent_p.E117E	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	17	16	0	29	124					proteolysis		dipeptidase activity	p.E124D(1)|p.E117D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			ATACAGCTGAAAAAGCCCTCA	0.323000													1	1	1	1	1	1	0.999999	18	17	0	32	1	9.297390e-01	3	4	0	32	5
SCRN3	79634	broad.mit.edu	37	2	175289296	175289296	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175289296G>T	ENST00000272732.6	+	7	1093	c.1011G>T	c.(1009-1011)aaG>aaT	p.K337N	SCRN3_ENST00000409673.3_Missense_Mutation_p.K330N|SCRN3_ENST00000548921.1_3'UTR	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	9	27	0	39	337					proteolysis		dipeptidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TAGTTAAAAAGAAATCACATT	0.328000													1	1	1	1	1	1	0.996134	9	29	0	47	1	7.679147e-01	7	4	0	47	5
GPR155	151556	broad.mit.edu	37	2	175300922	175300922	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175300922A>C	ENST00000392552.2	-	16	2773	c.2535T>G	c.(2533-2535)atT>atG	p.I845M	GPR155_ENST00000295500.4_Missense_Mutation_p.I845M|GPR155_ENST00000392551.2_Missense_Mutation_p.I845M	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	6	98	0	100	845					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TGTTTGCATTAATAGCAGGAG	0.423000													1	1	1	1	0	1	0.966395	6	101	0	104	0	0	0	1	0	104	4
GPR155	151556	broad.mit.edu	37	2	175306891	175306891	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175306891G>T	ENST00000392552.2	-	14	2368	c.2130C>A	c.(2128-2130)atC>atA	p.I710I	GPR155_ENST00000295500.4_Silent_p.I710I|GPR155_ENST00000392551.2_Silent_p.I710I|GPR155_ENST00000459996.1_5'UTR	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	11	39	0	25	710					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CTAATCCAAAGATTCCAAAGG	0.279000													1	1	1	1	1	1	0.999455	12	47	0	25	1	2.920412e-01	2	3	0	25	5
CHRNA1	1134	broad.mit.edu	37	2	175622306	175622306	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:175622306A>G	ENST00000348749.5	-	4	409	c.332T>C	c.(331-333)gTt>gCt	p.V111A	CHRNA1_ENST00000261007.5_Missense_Mutation_p.V136A|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V111A|CHRNA1_ENST00000409323.1_Missense_Mutation_p.V111A	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	8	19	0	45	136					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GTTATAGAGAACAAGGTCTGG	0.488000													1	1	1	1	0	1	0.992801	8	21	0	48	0	0	0	0	0	48	4
KIAA1715	80856	broad.mit.edu	37	2	176804319	176804319	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:176804319C>A	ENST00000272748.4	-	10	1020	c.773G>T	c.(772-774)aGa>aTa	p.R258I	KIAA1715_ENST00000535310.1_Missense_Mutation_p.R183I|KIAA1715_ENST00000544803.1_Missense_Mutation_p.R289I	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	11	22	0	50	258						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTCAACAATTCTATCCAAAGC	0.358000													1	1	0	1	1	1	0.999147	11	27	0	57	1	9.786681e-01	8	12	0	57	4
HOXD13	3239	broad.mit.edu	37	2	176959355	176959355	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:176959355C>T	ENST00000392539.3	+	2	929	c.929C>T	c.(928-930)tCg>tTg	p.S310L		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	17	41	0	70	310					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CGGCGTATCTCGGCTGCTACG	0.448000			T	NUP98	AML*								1	1	1	1	1	1	0.999999	20	47	0	76	1	9.994325e-01	19	14	0	76	5
PDE11A	50940	broad.mit.edu	37	2	178740621	178740621	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:178740621C>A	ENST00000286063.5	-	5	1649	c.1332G>T	c.(1330-1332)ttG>ttT	p.L444F	PDE11A_ENST00000449286.2_Missense_Mutation_p.L86F|PDE11A_ENST00000409504.1_Missense_Mutation_p.L86F|PDE11A_ENST00000389683.3_5'UTR|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Missense_Mutation_p.L194F	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	17	39	0	52	444	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTGGGGACATCAATTCAAAGG	0.388000									Primary Pigmented Nodular Adrenocortical Disease, Familial				1	1	1	1	1	1	1.000000	21	43	0	57	0	0	0	1	0	57	5
PDE11A	50940	broad.mit.edu	37	2	178936534	178936534	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:178936534C>A	ENST00000286063.5	-	1	948	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	37	70	0	107	211					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TTGGAGATATCTTTGACCAAT	0.478000									Primary Pigmented Nodular Adrenocortical Disease, Familial				1	1	1	1	1	1	1.000000	41	74	0	116	0	0	0	1	0	116	5
OSBPL6	114880	broad.mit.edu	37	2	179248854	179248854	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179248854C>A	ENST00000190611.4	+	18	2340	c.1964C>A	c.(1963-1965)aCt>aAt	p.T655N	OSBPL6_ENST00000409631.1_Missense_Mutation_p.T619N|OSBPL6_ENST00000409045.3_Missense_Mutation_p.T624N|OSBPL6_ENST00000392505.2_Missense_Mutation_p.T680N|OSBPL6_ENST00000315022.2_Missense_Mutation_p.T659N|OSBPL6_ENST00000359685.3_Missense_Mutation_p.T619N	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	98	215	0	361	655					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CTTGGGGAGACTTATGAATGC	0.453000													1	1	1	1	1	1	1.000000	106	241	0	414	0	0	0	1	0	414	5
OSBPL6	114880	broad.mit.edu	37	2	179253834	179253834	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179253834G>T	ENST00000190611.4	+	21	2631	c.2255G>T	c.(2254-2256)aGa>aTa	p.R752I	OSBPL6_ENST00000409631.1_Missense_Mutation_p.R716I|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R721I|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R777I|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R756I|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R716I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	19	31	0	64	752					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTAACCATCAGAAATACCAAA	0.353000													1	1	1	1	1	1	0.999999	20	32	0	70	0	0	0	0	0	70	5
TTN	7273	broad.mit.edu	37	2	179399554	179399554	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179399554A>C	ENST00000589042.1	-	358	102012	c.101788T>G	c.(101788-101790)Tta>Gta	p.L33930V	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L31362V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L24865V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24990V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L25057V|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L32289V|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16	40	0	57	32289							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACTGTGTAAAAACTGAAGT	0.343000													1	1	1	1	1	1	0.999974	16	43	0	65	0	0	0	0	0	65	5
TTN	7273	broad.mit.edu	37	2	179407401	179407401	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179407401C>A	ENST00000589042.1	-	348	97404	c.97180G>T	c.(97180-97182)Gtt>Ttt	p.V32394F	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29826F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23329F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23454F|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23521F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V30753F|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	46	94	0	142	30753	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAATGATAACTTTAATGGTT	0.338000													1	1	1	1	1	1	1.000000	49	107	0	164	0	0	1	0	0	164	5
TTN	7273	broad.mit.edu	37	2	179441428	179441428	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179441428C>A	ENST00000589042.1	-	325	69767	c.69543G>T	c.(69541-69543)aaG>aaT	p.K23181N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K20613N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K14116N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14241N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K14308N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K21540N|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	59	100	0	199	21540	Fibronectin type-III 68.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGGCTTTTCTTTTCTCTCC	0.453000													1	1	1	1	1	1	1.000000	68	114	0	221	0	1.418919e-01	0	2	0	221	5
TTN	7273	broad.mit.edu	37	2	179444820	179444820	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179444820C>T	ENST00000589042.1	-	318	67418	c.67194G>A	c.(67192-67194)agG>agA	p.R22398R	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.R19830R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.R13333R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.R13458R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.R13525R|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.R20757R|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28	50	0	115	20757	Ig-like 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAGGATTTCCTCTCTGCAT	0.438000													1	1	1	1	1	1	1.000000	35	54	0	124	0	0	1	0	0	124	5
TTN	7273	broad.mit.edu	37	2	179457181	179457181	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179457181C>T	ENST00000589042.1	-	301	59775	c.59551G>A	c.(59551-59553)Gat>Aat	p.D19851N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17283N|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10786N|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10911N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10978N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D18210N|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	41	91	0	162	18210	Ig-like 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCCACCATCTTCATGGGCA	0.373000													1	1	1	1	1	1	1.000000	43	99	0	176	0	0	0	0	0	176	5
TTN	7273	broad.mit.edu	37	2	179464378	179464378	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179464378A>G	ENST00000589042.1	-	289	56474	c.56250T>C	c.(56248-56250)gtT>gtC	p.V18750V	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.V16182V|TTN_ENST00000460472.2_Silent_p.V9685V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.V9810V|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Silent_p.V9877V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.V17109V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	50	89	0	171	17109	Fibronectin type-III 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGCGGAATAACTAAAGTGC	0.438000													1	1	1	1	1	1	1.000000	52	91	0	176	0	0	0	1	0	176	5
TTN	7273	broad.mit.edu	37	2	179466399	179466399	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179466399C>T	ENST00000589042.1	-	286	55642	c.55418G>A	c.(55417-55419)aGa>aAa	p.R18473K	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15905K|TTN_ENST00000460472.2_Missense_Mutation_p.R9408K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9533K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9600K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16832K|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19	46	0	59	16832	Ig-like 106.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTTTAACTCTGCAATTTGC	0.333000													1	1	1	1	1	1	0.999997	19	47	0	65	0	0	0	0	0	65	5
TTN	7273	broad.mit.edu	37	2	179478500	179478500	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179478500G>A	ENST00000589042.1	-	263	49734	c.49510C>T	c.(49510-49512)Cca>Tca	p.P16504S	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P13936S|TTN_ENST00000460472.2_Missense_Mutation_p.P7439S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P7564S|TTN_ENST00000342175.6_Missense_Mutation_p.P7631S|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P14863S|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	36	81	0	134	14863	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTTTACTGGCATCTTATTG	0.413000													1	1	1	1	1	1	1.000000	41	90	0	157	0	0	0	0	0	157	5
TTN	7273	broad.mit.edu	37	2	179517234	179517234	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179517234C>A	ENST00000589042.1	-	202	39302	c.39078G>T	c.(39076-39078)aaG>aaT	p.K13026N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K10592N|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K11519N|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	49	103	0	157	11380	Ig-like 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGCACTTTCTTTTCAGGAA	0.378000													1	1	1	1	1	1	1.000000	54	111	0	172	0	0	0	0	0	172	5
TTN	7273	broad.mit.edu	37	2	179542573	179542573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179542573C>A	ENST00000589042.1	-	146	34290	c.34066G>T	c.(34066-34068)Gaa>Taa	p.E11356*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E10112*|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E11039*|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	36	60	0	93	11039	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E10112*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAACAATTTCTTCTTCAAAT	0.408000													1	1	1	1	1	1	1.000000	38	65	0	97	0	0	0	0	0	97	5
TTN	7273	broad.mit.edu	37	2	179565931	179565931	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179565931C>T	ENST00000589042.1	-	111	30823		c.e111-1		TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30	61	0	120								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGGGATTTCTGAAGAAAAT	0.363000													1	1	1	1	1	1	1.000000	31	69	0	137	0	0	0	0	0	137	5
TTN	7273	broad.mit.edu	37	2	179568878	179568878	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179568878G>A	ENST00000589042.1	-	106	30443	c.30219C>T	c.(30217-30219)atC>atT	p.I10073I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I8829I|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.I9756I|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6	117	0	159	9756	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGCACCTTCGATTCTGAGTT	0.468000													1	0	1	1	0	1	0.966043	6	132	0	188	0	0	0	0	0	188	3
TTN	7273	broad.mit.edu	37	2	179571456	179571456	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179571456C>T	ENST00000589042.1	-	102	29369	c.29145G>A	c.(29143-29145)gcG>gcA	p.A9715A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.A8471A|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.A9398A|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23	34	0	74	9398	Ig-like 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATGAAGGTCGCAGTGGTTT	0.353000													1	1	1	1	1	1	1.000000	23	35	0	78	0	0	0	0	0	78	5
TTN	7273	broad.mit.edu	37	2	179584511	179584511	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179584511C>T	ENST00000589042.1	-	82	23932	c.23708G>A	c.(23707-23709)gGa>gAa	p.G7903E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G6659E|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G7586E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10	18	0	42	7586	Ig-like 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAAGGATTTCCAGTAGTGAC	0.408000													1	1	1	1	1	1	0.998508	10	19	0	48	0	0	0	0	0	48	5
TTN	7273	broad.mit.edu	37	2	179585127	179585127	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179585127A>G	ENST00000589042.1	-	80	23586	c.23362T>C	c.(23362-23364)Tct>Cct	p.S7788P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S6544P|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7471P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19	53	0	111	7471	Ig-like 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTTGACAGAGCAAGAACAC	0.408000													1	1	1	1	1	1	0.999999	21	59	0	130	0	0	0	0	0	130	5
TTN	7273	broad.mit.edu	37	2	179592343	179592343	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179592343G>A	ENST00000589042.1	-	68	20186	c.19962C>T	c.(19960-19962)agC>agT	p.S6654S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.S5410S|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.S6337S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	52	156	0	208	6337	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAAGAGTCGCTACCAACAT	0.413000													1	0	1	1	1	1	1.000000	55	169	0	236	0	0	0	0	0	236	4
TTN	7273	broad.mit.edu	37	2	179594290	179594290	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179594290G>A	ENST00000589042.1	-	64	18817	c.18593C>T	c.(18592-18594)cCc>cTc	p.P6198L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P4954L|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P5881L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22	50	0	98	5881	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGGTGGGGGGTTCTAAAGA	0.458000													1	1	1	1	1	1	1.000000	23	57	0	108	0	0	0	0	0	108	5
TTN	7273	broad.mit.edu	37	2	179595004	179595004	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179595004C>A	ENST00000589042.1	-	62	18347	c.18123G>T	c.(18121-18123)atG>atT	p.M6041I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M4797I|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.M5724I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7	18	0	15	5724	Ig-like 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTTTATTGTCATGGGTGCAG	0.478000													0	1	1	1	1	1	0.986135	7	18	0	15	0	0	0	0	0	15	4
TTN	7273	broad.mit.edu	37	2	179596285	179596285	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179596285G>A	ENST00000589042.1	-	59	17432	c.17208C>T	c.(17206-17208)atC>atT	p.I5736I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I4492I|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.I5419I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9	30	0	49	5419	Ig-like 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTACTCTCGATCTTCTTTA	0.448000													1	1	1	1	1	1	0.996041	9	31	0	51	0	0	0	0	0	51	5
TTN	7273	broad.mit.edu	37	2	179596486	179596486	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179596486C>T	ENST00000589042.1	-	58	17340	c.17116G>A	c.(17116-17118)Gaa>Aaa	p.E5706K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E4462K|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E5389K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	41	85	0	137	5389	Ig-like 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4462K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGGTATTCGCCAGCATCT	0.488000													1	1	1	1	1	1	1.000000	41	91	0	142	0	0	0	0	0	142	5
TTN	7273	broad.mit.edu	37	2	179600640	179600640	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179600640C>T	ENST00000589042.1	-	50	14757	c.14533G>A	c.(14533-14535)Gac>Aac	p.D4845N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D3601N|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D4528N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17	46	0	83	4528	Ig-like 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D3601N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTGCGTCGGAAATCCTC	0.438000													1	1	1	1	1	1	0.999986	17	50	0	94	0	0	0	0	0	94	5
TTN	7273	broad.mit.edu	37	2	179604701	179604701	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179604701C>A	ENST00000589042.1	-	48	13483	c.13259G>T	c.(13258-13260)aGa>aTa	p.R4420I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R4057I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R4182I|TTN_ENST00000342175.6_Missense_Mutation_p.R4249I|TTN_ENST00000591111.1_Missense_Mutation_p.R4103I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34	47	0	115	4103	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R4249I(1)|p.R4182I(1)|p.R4057I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAATATTTCTTAGCCACTC	0.473000													1	1	1	1	1	1	1.000000	37	52	0	125	0	0	0	0	0	125	5
TTN	7273	broad.mit.edu	37	2	179605938	179605938	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179605938G>A	ENST00000589042.1	-	48	12246	c.12022C>T	c.(12022-12024)Ctc>Ttc	p.L4008F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L3645F|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L3770F|TTN_ENST00000342175.6_Missense_Mutation_p.L3837F|TTN_ENST00000591111.1_Missense_Mutation_p.L3691F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27	62	0	99	3691							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGATATAGAGGCCACTGTCT	0.458000													1	1	1	1	1	1	1.000000	29	63	0	101	0	0	0	0	0	101	5
TTN	7273	broad.mit.edu	37	2	179613073	179613073	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179613073C>T	ENST00000360870.5	-	46	14276	c.14054G>A	c.(14053-14055)aGa>aAa	p.R4685K	TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	26	46	0	88	800	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCATAGTTCTATTTGAAAG	0.328000													1	1	1	1	1	1	1.000000	29	49	0	94	0	0	0	0	0	94	5
TTN	7273	broad.mit.edu	37	2	179629268	179629268	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179629268G>T	ENST00000589042.1	-	42	10198	c.9974C>A	c.(9973-9975)tCa>tAa	p.S3325*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S3325*|TTN_ENST00000460472.2_Nonsense_Mutation_p.S3279*|TTN_ENST00000359218.5_Nonsense_Mutation_p.S3279*|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.S3279*|TTN_ENST00000360870.5_Nonsense_Mutation_p.S3325*|TTN_ENST00000591111.1_Nonsense_Mutation_p.S3325*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34	71	0	99	3050	Ig-like 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGAGAGTGAAGCTGATGT	0.433000													1	1	1	1	1	1	1.000000	36	77	0	107	0	0	0	0	0	107	5
TTN	7273	broad.mit.edu	37	2	179631267	179631267	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179631267C>A	ENST00000589042.1	-	41	9768	c.9544G>T	c.(9544-9546)Gat>Tat	p.D3182Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D3182Y|TTN_ENST00000460472.2_Missense_Mutation_p.D3136Y|TTN_ENST00000359218.5_Missense_Mutation_p.D3136Y|TTN_ENST00000342175.6_Missense_Mutation_p.D3136Y|TTN_ENST00000360870.5_Missense_Mutation_p.D3182Y|TTN_ENST00000591111.1_Missense_Mutation_p.D3182Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20	26	0	56	2917							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAATGCCATCTTTATACCAG	0.393000													1	1	1	1	1	1	0.999999	20	28	0	59	0	0	0	0	0	59	5
TTN	7273	broad.mit.edu	37	2	179639177	179639177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179639177C>A	ENST00000589042.1	-	30	7038	c.6814G>T	c.(6814-6816)Gaa>Taa	p.E2272*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E2272*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E2226*|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E2226*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E2226*|TTN_ENST00000360870.5_Nonsense_Mutation_p.E2272*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E2272*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13	18	0	27	1996	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTGAAGTTCTTTCACAAAC	0.348000													1	1	1	1	1	1	0.999943	14	19	0	30	0	0	0	0	0	30	5
TTN	7273	broad.mit.edu	37	2	179640269	179640269	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179640269C>T	ENST00000589042.1	-	28	6546	c.6322G>A	c.(6322-6324)Gaa>Aaa	p.E2108K	TTN_ENST00000342992.6_Missense_Mutation_p.E2108K|TTN_ENST00000460472.2_Missense_Mutation_p.E2062K|TTN_ENST00000359218.5_Missense_Mutation_p.E2062K|TTN_ENST00000342175.6_Missense_Mutation_p.E2062K|TTN_ENST00000360870.5_Missense_Mutation_p.E2108K|TTN_ENST00000591111.1_Missense_Mutation_p.E2108K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23	31	0	46	1871	Ig-like 10.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTCACATTCGGGGTCTGGT	0.473000													1	1	1	1	1	1	1.000000	23	31	0	47	0	0	0	0	0	47	5
TTN	7273	broad.mit.edu	37	2	179645959	179645959	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179645959C>A	ENST00000589042.1	-	21	3636	c.3412G>T	c.(3412-3414)Gaa>Taa	p.E1138*	TTN_ENST00000342992.6_Nonsense_Mutation_p.E1138*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E1092*|TTN_ENST00000359218.5_Nonsense_Mutation_p.E1092*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E1092*|TTN_ENST00000360870.5_Nonsense_Mutation_p.E1138*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E1138*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7	28	0	44	1138	Ig-like 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTGCATTCACCGGTTTGT	0.348000													1	1	1	1	1	1	0.991943	8	32	0	45	0	0	0	0	0	45	5
TTN	7273	broad.mit.edu	37	2	179654773	179654773	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179654773C>T	ENST00000589042.1	-	12	2094	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N	TTN_ENST00000342992.6_Missense_Mutation_p.D624N|TTN_ENST00000460472.2_Missense_Mutation_p.D578N|TTN_ENST00000359218.5_Missense_Mutation_p.D578N|TTN_ENST00000342175.6_Missense_Mutation_p.D578N|TTN_ENST00000360870.5_Missense_Mutation_p.D624N|TTN_ENST00000591111.1_Missense_Mutation_p.D624N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27	39	0	38	624							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATACTAAATCTTGTTCTTTG	0.348000													1	1	1	1	1	1	1.000000	29	41	0	40	0	0	0	0	0	40	5
TTN	7273	broad.mit.edu	37	2	179664562	179664562	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:179664562C>T	ENST00000589042.1	-	5	883	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	TTN_ENST00000342992.6_Missense_Mutation_p.R220Q|TTN_ENST00000460472.2_Missense_Mutation_p.R220Q|TTN_ENST00000359218.5_Missense_Mutation_p.R220Q|TTN_ENST00000342175.6_Missense_Mutation_p.R220Q|TTN_ENST00000360870.5_Missense_Mutation_p.R220Q|TTN_ENST00000591111.1_Missense_Mutation_p.R220Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18	31	0	49	220							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R220P(6)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTCAATTCGGGTTTGTCT	0.403000													1	1	1	1	1	1	0.999999	20	33	0	52	0	0	0	0	0	52	5
CWC22	57703	broad.mit.edu	37	2	180835565	180835565	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:180835565C>T	ENST00000410053.3	-	10	1258	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	CWC22_ENST00000295749.6_Missense_Mutation_p.R320Q	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	24	41	0	63	320	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CAGAATGTTTCGAAGGCGTTC	0.308000													1	1	1	1	1	1	1.000000	27	41	0	69	1	9.954306e-01	6	11	0	69	5
ITGA4	3676	broad.mit.edu	37	2	182339888	182339888	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182339888T>G	ENST00000397033.2	+	4	859	c.429T>G	c.(427-429)acT>acG	p.T143T	ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Silent_p.T143T	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	9	48	0	56	143					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTATTCAGACTTGTGGGCATA	0.408000													1	0	1	1	1	1	0.995478	9	49	0	56	0	3.005464e-02	0	2	0	56	4
ITGA4	3676	broad.mit.edu	37	2	182339943	182339943	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182339943A>G	ENST00000397033.2	+	4	914	c.484A>G	c.(484-486)Act>Gct	p.T162A	ITGA4_ENST00000478440.1_Intron|ITGA4_ENST00000339307.4_Missense_Mutation_p.T162A	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	29	49	0	107	162					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAAGCTCCCCACTGGTGGTTG	0.373000													1	1	1	1	1	1	1.000000	30	51	0	112	0	0	0	1	0	112	5
ITGA4	3676	broad.mit.edu	37	2	182350655	182350655	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182350655A>G	ENST00000397033.2	+	10	1519	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	27	44	0	100	363					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.K363N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GAAGTGACAAATATGCTGCAA	0.368000													1	1	1	1	1	1	1.000000	27	47	0	107	0	3.095326e-01	0	3	0	107	5
ITGA4	3676	broad.mit.edu	37	2	182350666	182350666	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182350666G>A	ENST00000397033.2	+	10	1530	c.1100G>A	c.(1099-1101)aGa>aAa	p.R367K		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	26	48	0	97	367					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TATGCTGCAAGATTTGGGGAA	0.363000													1	1	1	1	1	1	1.000000	28	52	0	104	0	4.428520e-01	0	4	0	104	5
CERKL	0	broad.mit.edu	37	2	182412416	182412416	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182412416G>A	ENST00000410087.3	-	10	1297	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000339098.5_Silent_p.F425F|CERKL_ENST00000409440.3_Silent_p.F381F|CERKL_ENST00000374970.2_Silent_p.F330F|CERKL_ENST00000374969.2_Silent_p.F286F	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	47	90	0	113	425					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGACATTCAAGAACTGACCCT	0.403000													1	1	1	1	1	1	1.000000	49	96	0	126	1	2.698168e-01	2	1	0	126	5
SSFA2	6744	broad.mit.edu	37	2	182767184	182767184	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:182767184A>C	ENST00000431877.2	+	8	1583	c.1404A>C	c.(1402-1404)gaA>gaC	p.E468D	SSFA2_ENST00000409001.1_Missense_Mutation_p.E468D|SSFA2_ENST00000320370.7_Missense_Mutation_p.E468D|SSFA2_ENST00000428267.2_Missense_Mutation_p.E315D	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	27	34	0	68	468						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			ACTCCTTCGAAATGGAAGAGG	0.368000													1	1	1	1	1	1	1.000000	28	35	0	69	1	1	25	24	0	69	5
PDE1A	0	broad.mit.edu	37	2	183051307	183051307	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183051307C>T	ENST00000435564.1	-	12	1464	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	PDE1A_ENST00000536095.1_Missense_Mutation_p.D318N|PDE1A_ENST00000358139.2_Missense_Mutation_p.D422N|PDE1A_ENST00000331935.6_Missense_Mutation_p.D422N|PDE1A_ENST00000351439.5_Missense_Mutation_p.D406N|PDE1A_ENST00000410103.1_Missense_Mutation_p.D422N|PDE1A_ENST00000346717.4_Missense_Mutation_p.D388N|PDE1A_ENST00000456212.1_Missense_Mutation_p.D422N|PDE1A_ENST00000409365.1_Missense_Mutation_p.D406N	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	7	34	0	33	422	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	p.D422N(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ACTATGAAATCGATGAAACCT	0.353000													1	0	1	1	1	1	0.991552	8	39	0	36	0	3.061905e-01	0	6	0	36	4
PDE1A	0	broad.mit.edu	37	2	183070763	183070763	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183070763C>T	ENST00000435564.1	-	8	1054	c.854G>A	c.(853-855)cGc>cAc	p.R285H	PDE1A_ENST00000536095.1_Missense_Mutation_p.R181H|PDE1A_ENST00000358139.2_Missense_Mutation_p.R285H|PDE1A_ENST00000331935.6_Missense_Mutation_p.R285H|PDE1A_ENST00000351439.5_Missense_Mutation_p.R269H|PDE1A_ENST00000410103.1_Missense_Mutation_p.R285H|PDE1A_ENST00000346717.4_Missense_Mutation_p.R251H|PDE1A_ENST00000456212.1_Missense_Mutation_p.R285H|PDE1A_ENST00000409365.1_Missense_Mutation_p.R269H	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	14	22	0	32	285	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			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AAGGACAGAGCGATCATTATA	0.358000													1	1	1	1	1	1	0.999970	15	23	0	33	0	6.509418e-01	1	4	0	33	5
DNAJC10	54431	broad.mit.edu	37	2	183621136	183621136	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183621136C>A	ENST00000264065.6	+	18	2164	c.1749C>A	c.(1747-1749)ttC>ttA	p.F583L		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	9	41	0	63	583	Thioredoxin 3.				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			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGTTGATTTCTATTCTCCGT	0.388000													1	1	1	1	1	1	0.995547	9	46	0	69	1	9.999978e-01	51	132	0	69	5
DNAJC10	54431	broad.mit.edu	37	2	183621186	183621186	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183621186G>T	ENST00000264065.6	+	18	2214	c.1799G>T	c.(1798-1800)aGa>aTa	p.R600I		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	21	31	0	45	600	Thioredoxin 3.				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			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAATGGAAAAGAATGGCCCGG	0.338000													1	1	1	1	1	1	1.000000	22	34	0	56	1	1	117	141	0	56	5
NCKAP1	10787	broad.mit.edu	37	2	183799527	183799527	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183799527A>C	ENST00000360982.2	-	27	3588	c.2830T>G	c.(2830-2832)Tca>Gca	p.S944A	NCKAP1_ENST00000478449.1_5'UTR|NCKAP1_ENST00000361354.3_Missense_Mutation_p.S938A	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	6	4	0	7	938					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TCTTCAATTGAACTTACAAGA	0.294000													0	1	0	0	0	1	0.982972	6	4	0	8	1	9.999999e-01	84	11	0	8	1
NCKAP1	10787	broad.mit.edu	37	2	183821229	183821229	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183821229C>T	ENST00000360982.2	-	21	2890	c.2132G>A	c.(2131-2133)cGa>cAa	p.R711Q	NCKAP1_ENST00000361354.3_Missense_Mutation_p.R705Q	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	25	36	0	50	705					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CAAATATTCTCGTGGGGTAAA	0.333000													1	1	1	1	1	1	1.000000	25	39	0	56	1	1	5	56	0	56	5
NCKAP1	10787	broad.mit.edu	37	2	183845983	183845983	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:183845983C>A	ENST00000360982.2	-	14	2106	c.1348G>T	c.(1348-1350)Gaa>Taa	p.E450*	NCKAP1_ENST00000361354.3_Nonsense_Mutation_p.E444*	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	23	39	0	89	444					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGCACGAGTTCATTGAGGACA	0.383000													1	1	1	1	1	1	1.000000	23	45	0	102	1	9.999990e-01	2	54	0	102	5
ZNF804A	91752	broad.mit.edu	37	2	185798421	185798421	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:185798421G>A	ENST00000302277.6	+	3	941	c.347G>A	c.(346-348)cGc>cAc	p.R116H		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	15	24	0	45	116						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GCACTCCAACGCCTGCACAAG	0.403000													1	1	1	1	1	1	0.999994	17	25	0	51	0	0	0	0	0	51	5
FSIP2	401024	broad.mit.edu	37	2	186672466	186672466	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:186672466G>A	ENST00000343098.5	+	17	18700	c.18700G>A	c.(18700-18702)Gaa>Aaa	p.E6234K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E6145K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2	8	54	0	69											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCAGTGTGTGGAAGTTGAAAA	0.398000													1	0	1	1	1	1	0.990927	8	57	0	71	0	0	0	0	0	71	4
ITGAV	3685	broad.mit.edu	37	2	187516777	187516777	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:187516777A>C	ENST00000261023.3	+	15	1740	c.1466A>C	c.(1465-1467)aAa>aCa	p.K489T	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.K443T|ITGAV_ENST00000374907.3_Missense_Mutation_p.K453T	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	4	11	0	23	489					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			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			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)		CAAGACAATAAAACCTGCTCA	0.388000													1	0	1	1	1	1	0.948337	5	12	0	26	1	8.487756e-01	5	6	0	26	4
ZSWIM2	151112	broad.mit.edu	37	2	187702145	187702145	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:187702145A>C	ENST00000295131.2	-	5	670	c.631T>G	c.(631-633)Ttc>Gtc	p.F211V		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	25	39	0	50	211					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GAGTTTTTGAATTCCTCCAAA	0.393000													1	1	1	1	1	1	1.000000	29	39	0	52	0	0	0	0	0	52	5
TFPI	7035	broad.mit.edu	37	2	188331683	188331683	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:188331683T>G	ENST00000233156.3	-	8	1189	c.895A>C	c.(895-897)Att>Ctt	p.I299L	AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.I299L|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	8	15	0	8	299					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TTAACAAAAATTTCTTCATAT	0.249000													0	1	1	0	0	1	0.993318	8	18	0	8	0	5.059789e-01	0	5	0	8	2
TFPI	7035	broad.mit.edu	37	2	188343453	188343453	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:188343453G>T	ENST00000409676.1	-	8	970	c.706C>A	c.(706-708)Cat>Aat	p.H236N	AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000233156.3_Intron|TFPI_ENST00000392365.1_Intron|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.H236N			P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	11	16	0	42	0	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	ATGGATGCATGAATGCAGAAG	0.353000													1	1	1	1	1	1	0.999379	11	17	0	45	0	9.999937e-01	1	3	0	45	5
TFPI	7035	broad.mit.edu	37	2	188361697	188361697	+	Missense_Mutation	SNP	C	C	T	rs137865208		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:188361697C>T	ENST00000233156.3	-	3	524	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000409676.1_Missense_Mutation_p.R77Q|TFPI_ENST00000392365.1_Missense_Mutation_p.R77Q|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.R77Q	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	16	36	0	42	77	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TTCGCACTGTCGAGTGAAAAT	0.378000													1	1	1	1	1	1	0.999995	18	39	0	46	1	9.998576e-01	10	29	0	46	5
GULP1	51454	broad.mit.edu	37	2	189452618	189452618	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:189452618T>G	ENST00000409580.1	+	12	1499	c.785T>G	c.(784-786)tTt>tGt	p.F262C	GULP1_ENST00000409830.1_Missense_Mutation_p.F262C|GULP1_ENST00000409805.1_Missense_Mutation_p.F159C|GULP1_ENST00000409843.1_Missense_Mutation_p.F262C|GULP1_ENST00000359135.3_Missense_Mutation_p.F262C|GULP1_ENST00000409609.1_Missense_Mutation_p.F262C			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	17	36	0	57	262					apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TTTGACCCATTTAACTGTGGA	0.368000													1	1	1	1	1	1	0.999999	20	41	0	65	1	9.999995e-01	32	32	0	65	5
ANKAR	150709	broad.mit.edu	37	2	190554573	190554573	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:190554573G>T	ENST00000520309.1	+	3	1010	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	ANKAR_ENST00000313581.4_Missense_Mutation_p.D308Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.D72Y|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000438402.2_Missense_Mutation_p.D308Y|ANKAR_ENST00000431575.2_Missense_Mutation_p.D237Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	23	42	0	48	308						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GAAGAAAAAAGATATCAGAAG	0.284000													1	1	1	1	1	1	1.000000	24	46	0	52	0	0	0	1	0	52	5
MSTN	2660	broad.mit.edu	37	2	190922365	190922365	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:190922365C>T	ENST00000260950.4	-	3	880		c.e3-1		C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	13	43	0	45						muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AAAACGGATTCTGTTTGAAAA	0.358000													1	1	1	1	1	1	0.999942	15	46	0	51	0	0	0	0	0	51	5
MYO1B	4430	broad.mit.edu	37	2	192225402	192225402	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:192225402G>T	ENST00000392318.3	+	8	855	c.608G>T	c.(607-609)aGa>aTa	p.R203I	MYO1B_ENST00000339514.4_Missense_Mutation_p.R203I|MYO1B_ENST00000304164.4_Missense_Mutation_p.R203I|MYO1B_ENST00000392316.1_Missense_Mutation_p.R203I	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	39	94	0	151	203	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGAGGTGAAAGAAACTTCCAT	0.398000													1	1	1	1	1	1	1.000000	42	108	0	167	1	9.999557e-01	21	23	0	167	5
SLC39A10	57181	broad.mit.edu	37	2	196545041	196545041	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196545041G>A	ENST00000409086.3	+	2	550	c.275G>A	c.(274-276)gGa>gAa	p.G92E	SLC39A10_ENST00000359634.5_Missense_Mutation_p.G92E|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	37	43	0	95	92					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TTGGGCCTTGGAGAGAGAAAA	0.338000													1	1	1	1	1	1	1.000000	38	54	0	107	1	9.544529e-01	4	6	0	107	5
DNAH7	56171	broad.mit.edu	37	2	196722256	196722256	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196722256A>G	ENST00000312428.6	-	44	8359	c.8259T>C	c.(8257-8259)caT>caC	p.H2753H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	4	48	0	65	2753	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGTCATATTCATGAAGTGACT	0.368000													1	0	1	1	1	1	0.967732	6	52	0	76	0	0	0	1	0	76	4
DNAH7	56171	broad.mit.edu	37	2	196825183	196825183	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196825183C>A	ENST00000312428.6	-	18	2792	c.2692G>T	c.(2692-2694)Gaa>Taa	p.E898*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	33	77	0	108	898	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGAGAATATTCTTTGCTAGCT	0.393000													1	1	1	1	1	1	1.000000	34	82	0	118	0	0	0	0	0	118	5
DNAH7	56171	broad.mit.edu	37	2	196834764	196834764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196834764C>A	ENST00000312428.6	-	17	2213	c.2113G>T	c.(2113-2115)Gaa>Taa	p.E705*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	10	33	0	53	705	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAATAAAATTCTTCTGATTGC	0.338000													1	1	1	1	1	1	0.998993	11	37	0	58	0	0	0	0	0	58	5
DNAH7	56171	broad.mit.edu	37	2	196912086	196912086	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:196912086T>C	ENST00000312428.6	-	5	488	c.388A>G	c.(388-390)Aat>Gat	p.N130D	DNAH7_ENST00000410072.1_Missense_Mutation_p.N130D	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	12	52	0	64	130	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAATGACATTAACAAGAGTA	0.378000													1	1	1	1	1	1	0.999865	14	53	0	67	0	4.968944e-02	0	2	0	67	5
STK17B	9262	broad.mit.edu	37	2	197002227	197002227	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197002227G>A	ENST00000263955.4	-	8	1349	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	STK17B_ENST00000409228.1_Missense_Mutation_p.R355C	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	17	44	0	59	355					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			TCATCGAAACGAAATCTTTTG	0.373000													1	1	1	1	1	1	0.999994	18	47	0	66	0	5.370057e-01	0	6	0	66	5
HECW2	57520	broad.mit.edu	37	2	197183699	197183699	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197183699C>T	ENST00000260983.2	-	9	2097	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	HECW2_ENST00000409111.1_Missense_Mutation_p.E283K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	12	31	0	72	639					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCAGCGCATTCCAGGTCACTC	0.587000													1	1	1	1	1	1	0.999557	12	32	0	78	0	0	0	1	0	78	5
HECW2	57520	broad.mit.edu	37	2	197208479	197208479	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197208479G>T	ENST00000260983.2	-	3	484	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	HECW2_ENST00000409111.1_5'UTR	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	57	77	0	119	101					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTTGGCTGGAGAATTCTCATC	0.378000													1	1	1	1	1	1	1.000000	59	82	0	125	0	0	0	0	0	125	5
GTF3C3	9330	broad.mit.edu	37	2	197639893	197639893	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197639893C>T	ENST00000263956.3	-	13	1867	c.1778G>A	c.(1777-1779)aGa>aAa	p.R593K		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	10	19	0	31	593						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TATTTTGTCTCTCGATACTTT	0.343000													0	1	1	1	1	1	0.974415	11	23	1	34	1	9.888086e-01	25	27	1	34	4
ANKRD44	91526	broad.mit.edu	37	2	197954686	197954686	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:197954686A>G	ENST00000328737.2	-	11	1172	c.1096T>C	c.(1096-1098)Ttg>Ctg	p.L366L	ANKRD44_ENST00000282272.8_Silent_p.L383L|ANKRD44_ENST00000450567.1_Silent_p.L366L|ANKRD44_ENST00000409153.1_Silent_p.L391L|ANKRD44_ENST00000337207.5_Silent_p.L366L|ANKRD44_ENST00000539527.1_Silent_p.L319L			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	20	47	0	73	391							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATGATAACAACTTTCTGCAG	0.458000													1	1	1	1	1	1	0.999999	21	54	0	84	0	0	0	0	0	84	5
PLCL1	5334	broad.mit.edu	37	2	198950849	198950849	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:198950849C>T	ENST00000428675.1	+	2	3006	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	PLCL1_ENST00000437704.2_Missense_Mutation_p.R772W	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	16	43	0	53	870					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAGAAAGTTCGGGAATATAC	0.418000													1	1	1	1	1	1	0.999994	18	45	0	59	0	0	0	1	0	59	5
SATB2	23314	broad.mit.edu	37	2	200193516	200193516	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:200193516G>A	ENST00000443023.1	-	7	2579	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	SATB2_ENST00000417098.1_Missense_Mutation_p.R431C|RP11-486F17.1_ENST00000489557.2_RNA|SATB2_ENST00000457245.1_Missense_Mutation_p.R431C|SATB2_ENST00000428695.1_Missense_Mutation_p.R313C|SATB2_ENST00000260926.5_Missense_Mutation_p.R431C			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	13	21	0	54	431						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGTAGATGCGATCTCGCTCC	0.562000													1	1	1	1	0	1	0.999836	13	24	0	55	0	0	0	0	0	55	4
SGOL2	151246	broad.mit.edu	37	2	201434523	201434523	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:201434523C>T	ENST00000357799.4	+	6	709	c.611C>T	c.(610-612)tCg>tTg	p.S204L	SGOL2_ENST00000409203.3_Missense_Mutation_p.S204L	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	16	53	0	52	204					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAGGATAATTCGGAAGTGTTA	0.318000													1	1	1	1	1	1	0.999984	17	62	0	55	1	6.719353e-01	7	3	0	55	5
SGOL2	151246	broad.mit.edu	37	2	201436810	201436810	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:201436810T>G	ENST00000357799.4	+	7	1839	c.1741T>G	c.(1741-1743)Tta>Gta	p.L581V		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	24	52	0	43	581					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TAATGGAAATTTATGTGATTA	0.328000													1	1	1	1	1	1	1.000000	26	54	0	47	1	9.301701e-01	2	10	0	47	5
SGOL2	151246	broad.mit.edu	37	2	201437472	201437472	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:201437472T>G	ENST00000357799.4	+	7	2501	c.2403T>G	c.(2401-2403)gaT>gaG	p.D801E		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	13	59	0	66	801					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GTCAAAATGATTCAAAAATAG	0.348000													1	1	1	1	1	1	0.999853	14	62	0	73	1	8.395274e-01	4	13	0	73	5
CFLAR	8837	broad.mit.edu	37	2	202025201	202025201	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202025201A>T	ENST00000309955.2	+	9	1355	c.840A>T	c.(838-840)aaA>aaT	p.K280N	CFLAR_ENST00000443227.1_Missense_Mutation_p.K184N|CFLAR_ENST00000457277.1_Missense_Mutation_p.K280N|CFLAR_ENST00000423241.2_Missense_Mutation_p.K280N|CFLAR_ENST00000340870.5_Missense_Mutation_p.K280N|CFLAR_ENST00000479953.2_Missense_Mutation_p.K184N|CFLAR_ENST00000341582.6_Missense_Mutation_p.K245N|CFLAR_ENST00000355558.4_Intron	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	52	96	0	136	280	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				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			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						AAGTCCAGAAATTCTTGCATC	0.478000													1	1	1	1	1	1	1.000000	56	104	0	142	1	9.938637e-01	7	11	0	142	5
CASP8	841	broad.mit.edu	37	2	202131412	202131412	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202131412G>A	ENST00000358485.4	+	2	576	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	CASP8_ENST00000323492.7_Missense_Mutation_p.R68Q|CASP8_ENST00000264274.9_Missense_Mutation_p.R68Q|CASP8_ENST00000264275.5_Missense_Mutation_p.R68Q|CASP8_ENST00000392258.3_Missense_Mutation_p.R68Q|CASP8_ENST00000432109.2_Missense_Mutation_p.R68Q|CASP8_ENST00000392259.2_Missense_Mutation_p.R68Q|CASP8_ENST00000392266.3_Missense_Mutation_p.R68Q	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	13	32	0	55	68	DED 2.				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			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGCTCTTCCGAATTAATAGA	0.453000										HNSCC(4;0.00038)			1	1	1	1	1	1	0.999780	13	35	0	58	1	9.959506e-01	24	6	0	58	5
CASP8	841	broad.mit.edu	37	2	202137360	202137360	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202137360G>T	ENST00000358485.4	+	4	784		c.e4-1		CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000264275.5_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000392266.3_Splice_Site	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	41	73	0	128						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			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTCCTCTTAGAACCTGCTGG	0.408000										HNSCC(4;0.00038)			1	1	1	1	1	1	1.000000	44	75	0	141	0	0	0	0	0	141	5
TRAK2	66008	broad.mit.edu	37	2	202257694	202257694	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202257694G>A	ENST00000332624.3	-	10	1479	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	15	8	0	25	351				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GATCTACTACGAAGTTCCTTT	0.388000													1	1	1	1	1	1	0.999996	16	11	0	27	1	9.991129e-01	2	12	0	27	5
TRAK2	66008	broad.mit.edu	37	2	202263032	202263032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202263032G>A	ENST00000332624.3	-	6	954	c.526C>T	c.(526-528)Cga>Tga	p.R176*	TRAK2_ENST00000430254.1_Nonsense_Mutation_p.R176*	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	20	39	0	48	176						early endosome|plasma membrane	GABA receptor binding	p.R176*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGACGATTCGAAGTAACTCA	0.383000													1	0	1	1	1	1	1.000000	24	46	0	56	0	9.431650e-01	1	11	0	56	4
MPP4	58538	broad.mit.edu	37	2	202510068	202510068	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202510068T>C	ENST00000409474.3	-	22	1986	c.1779A>G	c.(1777-1779)caA>caG	p.Q593Q	MPP4_ENST00000447335.2_Silent_p.Q586Q|MPP4_ENST00000359962.5_Silent_p.Q593Q|MPP4_ENST00000428900.2_Silent_p.Q569Q|MPP4_ENST00000315506.7_Silent_p.Q549Q|MPP4_ENST00000409143.1_Silent_p.Q535Q|MPP4_ENST00000396886.3_Silent_p.Q518Q	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	19	30	0	41	593	Guanylate kinase-like.					cytoplasm	protein binding			kidney(1)|lung(11)	12						GATCAAAAAATTGGCCAAACT	0.418000													1	1	1	1	1	1	1.000000	21	33	0	44	0	0	0	1	0	44	5
MPP4	58538	broad.mit.edu	37	2	202510091	202510091	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:202510091T>A	ENST00000409474.3	-	22	1963	c.1756A>T	c.(1756-1758)Aga>Tga	p.R586*	MPP4_ENST00000447335.2_Nonsense_Mutation_p.R579*|MPP4_ENST00000359962.5_Nonsense_Mutation_p.R586*|MPP4_ENST00000428900.2_Nonsense_Mutation_p.R562*|MPP4_ENST00000315506.7_Nonsense_Mutation_p.R542*|MPP4_ENST00000409143.1_Nonsense_Mutation_p.R528*|MPP4_ENST00000396886.3_Nonsense_Mutation_p.R511*	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	5	35	0	34	586	Guanylate kinase-like.					cytoplasm	protein binding			kidney(1)|lung(11)	12						GTTTCCATTCTTTGGGCTAAA	0.378000													1	0	1	1	1	1	0.941496	5	38	0	38	0	0	0	1	0	38	4
BMPR2	659	broad.mit.edu	37	2	203379620	203379620	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:203379620A>G	ENST00000374580.4	+	5	1078	c.539A>G	c.(538-540)aAa>aGa	p.K180R	BMPR2_ENST00000374574.2_Missense_Mutation_p.K180R	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	15	21	0	34	180					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			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GGAGACCGTAAACAAGGTCTT	0.343000													1	1	1	1	1	1	0.999994	17	24	0	43	1	9.478297e-01	4	6	0	43	5
ICA1L	130026	broad.mit.edu	37	2	203653775	203653775	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:203653775C>A	ENST00000392237.2	-	12	1178	c.1021G>T	c.(1021-1023)Gaa>Taa	p.E341*	ICA1L_ENST00000358299.2_Nonsense_Mutation_p.E341*	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	15	55	0	63	341										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAAAATCTTCTCCTTCCAAT	0.368000													1	1	1	1	1	1	0.999967	16	59	0	66	0	0	0	1	0	66	5
NBEAL1	65065	broad.mit.edu	37	2	204013739	204013739	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:204013739G>A	ENST00000449802.1	+	33	5576	c.5243G>A	c.(5242-5244)cGa>cAa	p.R1748Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	22	38	0	52	1748							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CCATTTAATCGAAAAGCACGC	0.343000													1	1	1	1	1	1	1.000000	24	41	0	55	0	0	1	0	0	55	5
CYP20A1	57404	broad.mit.edu	37	2	204154520	204154520	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:204154520G>A	ENST00000356079.4	+	10	1127	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	CYP20A1_ENST00000429815.2_Missense_Mutation_p.R343Q|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	23	26	0	53	335						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAACTGTTCGAACTGCCAAA	0.323000													1	1	1	1	1	1	1.000000	26	31	0	59	1	9.999996e-01	20	20	0	59	5
EEF1B2	1933	broad.mit.edu	37	2	207024682	207024682	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207024682G>A	ENST00000236957.5	+	2	100		c.e2-1		EEF1B2_ENST00000392221.1_5'UTR|EEF1B2_ENST00000392222.2_5'UTR	NM_021121.3	NP_066944.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	47	86	0	145							cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CTGCTCCCCAGCTCTCGGATA	0.567000													1	0	1	1	1	1	1.000000	49	91	0	161	1	1	731	705	0	161	4
ZDBF2	57683	broad.mit.edu	37	2	207170663	207170663	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207170663G>T	ENST00000374423.3	+	5	1797	c.1411G>T	c.(1411-1413)Gaa>Taa	p.E471*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	9	23	0	27	471							nucleic acid binding|zinc ion binding	p.E471*(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GATTGTTAAAGAAATAAGTCT	0.333000													1	1	1	1	1	1	0.996410	9	24	0	27	0	0	0	1	0	27	5
ZDBF2	57683	broad.mit.edu	37	2	207173411	207173411	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207173411G>T	ENST00000374423.3	+	5	4545	c.4159G>T	c.(4159-4161)Gaa>Taa	p.E1387*		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	14	20	0	31	1387							nucleic acid binding|zinc ion binding	p.E1387K(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ACCTGTCAAAGAAATAAATCT	0.353000													1	1	1	1	1	1	0.999987	16	23	0	32	0	0	0	0	0	32	5
ZDBF2	57683	broad.mit.edu	37	2	207174556	207174556	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207174556G>T	ENST00000374423.3	+	5	5690	c.5304G>T	c.(5302-5304)aaG>aaT	p.K1768N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	11	22	0	38	1768							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAACTGTTAAGAAAAGACACC	0.423000													1	1	1	1	1	1	0.999648	12	23	0	39	0	0	0	0	0	39	5
ADAM23	8745	broad.mit.edu	37	2	207414845	207414845	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207414845G>T	ENST00000264377.3	+	9	1222	c.894G>T	c.(892-894)atG>atT	p.M298I	ADAM23_ENST00000374415.3_Missense_Mutation_p.M298I|ADAM23_ENST00000374416.1_Missense_Mutation_p.M298I	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	6	16	0	28	298					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTGAAGAAATGAAATATTTGG	0.303000													1	0	1	1	1	1	0.972020	6	18	0	31	0	0	0	0	0	31	4
DYTN	391475	broad.mit.edu	37	2	207575305	207575305	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207575305C>T	ENST00000452335.2	-	2	153	c.37G>A	c.(37-39)Gag>Aag	p.E13K		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	9	6	0	14	13						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		ATGGAATTCTCAATACTATTA	0.323000													0	0	1	1	1	1	0.998328	9	7	0	16	0	0	0	0	0	16	3
CPO	130749	broad.mit.edu	37	2	207827337	207827337	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:207827337T>C	ENST00000272852.3	+	7	822	c.777_splice	c.e7+1	p.M259_splice		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	26	41	0	94	259					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CACCCAGAAATGGTGAGTCCA	0.443000													1	1	1	1	1	1	1.000000	28	43	0	97	0	0	0	0	0	97	5
METTL21A	151194	broad.mit.edu	37	2	208477906	208477906	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:208477906C>T	ENST00000411432.1	-	4	737	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	METTL21A_ENST00000426075.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000406927.2_Missense_Mutation_p.R174Q|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000442521.1_Missense_Mutation_p.R174Q|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000448007.2_Missense_Mutation_p.R174Q|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000272839.3_Missense_Mutation_p.R192Q	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	42	82	0	129	174						integral to membrane	methyltransferase activity	p.R174Q(2)		endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						ATAGCGAATTCGGCATGCTAA	0.383000													1	1	1	1	1	1	1.000000	46	87	0	148	1	9.999995e-01	11	38	0	148	5
CCNYL1	151195	broad.mit.edu	37	2	208591568	208591568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:208591568C>T	ENST00000295414.3	+	3	509	c.298C>T	c.(298-300)Cga>Tga	p.R100*	CCNYL1_ENST00000339882.5_Nonsense_Mutation_p.R100*|CCNYL1_ENST00000392209.3_Nonsense_Mutation_p.R30*			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	32	65	0	105	100					regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		ATTCTTAGTGCGAGAAAAGAG	0.299000													1	1	1	1	1	1	1.000000	38	77	0	118	1	8.827612e-01	3	7	0	118	5
PIKFYVE	200576	broad.mit.edu	37	2	209182661	209182661	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:209182661A>C	ENST00000264380.4	+	16	2236	c.2078A>C	c.(2077-2079)aAa>aCa	p.K693T		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	21	36	0	77	693					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			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATTGCACATAAAAAGGTAATG	0.378000													1	1	1	1	1	1	1.000000	23	41	0	85	0	1.356852e-01	1	1	0	85	5
MAP2	4133	broad.mit.edu	37	2	210557675	210557675	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:210557675G>T	ENST00000360351.4	+	7	1287	c.781G>T	c.(781-783)Gaa>Taa	p.E261*	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E257*|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	24	57	0	78	261					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			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		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)	AACTCCAAAAGAACAAAAGGA	0.498000													1	1	1	1	1	1	1.000000	25	61	0	81	0	9.929646e-01	1	1	0	81	5
MAP2	4133	broad.mit.edu	37	2	210560590	210560590	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:210560590T>G	ENST00000360351.4	+	7	4202	c.3696T>G	c.(3694-3696)atT>atG	p.I1232M	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I1228M|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	24	36	0	61	1232					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			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		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)	CAGCAGAGATTCAGAGTGAGG	0.478000													1	1	1	1	1	1	1.000000	25	39	0	63	1	9.996147e-01	3	1	0	63	5
UNC80	285175	broad.mit.edu	37	2	210642253	210642253	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:210642253T>G	ENST00000439458.1	+	4	650	c.570T>G	c.(568-570)ttT>ttG	p.F190L	UNC80_ENST00000272845.5_Missense_Mutation_p.F190L|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	43	71	0	121	190						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TCTTCGTGTTTCTGTTTGCTC	0.488000													1	1	1	1	1	1	1.000000	47	79	0	139	0	0	0	0	0	139	5
KANSL1L	151050	broad.mit.edu	37	2	210940291	210940291	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:210940291A>C	ENST00000281772.9	-	6	2003	c.1740T>G	c.(1738-1740)ttT>ttG	p.F580L	KANSL1L_ENST00000452086.1_Missense_Mutation_p.F580L|KANSL1L_ENST00000418791.1_Missense_Mutation_p.F580L|KANSL1L_ENST00000457374.1_Missense_Mutation_p.F580L	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	8	14	0	36	580																	GAGTCCAATAAAAAGTAGGGC	0.403000													1	1	1	1	1	1	0.997267	9	14	0	36	1	9.672600e-01	6	7	0	36	5
CPS1	1373	broad.mit.edu	37	2	211465360	211465360	+	Missense_Mutation	SNP	C	C	T	rs121912592		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:211465360C>T	ENST00000233072.5	+	15	1827	c.1631C>T	c.(1630-1632)aCg>aTg	p.T544M	CPS1_ENST00000451903.2_Missense_Mutation_p.T93M|CPS1_ENST00000430249.2_Missense_Mutation_p.T550M	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	34	58	0	99	544			T -> M (in CPS1D).		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			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATTATGGCTACGGAAGACAGG	0.403000													1	1	0	1	1	1	1.000000	35	61	0	101	1	7.852462e-01	4	3	0	101	4
CPS1	1373	broad.mit.edu	37	2	211469846	211469846	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:211469846A>G	ENST00000233072.5	+	17	2053	c.1857A>G	c.(1855-1857)caA>caG	p.Q619Q	CPS1_ENST00000451903.2_Silent_p.Q168Q|CPS1_ENST00000430249.2_Silent_p.Q625Q	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	10	25	0	54	619	ATP-grasp 1.				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			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGACCAACCAAATTCTGGTGG	0.398000													1	0	1	1	1	1	0.999166	11	26	0	63	1	6.662301e-01	4	3	0	63	4
ERBB4	2066	broad.mit.edu	37	2	213403311	213403311	+	Translation_Start_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:213403311C>A	ENST00000342788.4	-	0	254				ERBB4_ENST00000436443.1_De_novo_Start_OutOfFrame	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	15	22	0	58						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			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		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)		GCATATCCCCCTTTCGGGCAC	0.667000										TSP Lung(8;0.080)			0	0	1	1	0	1	0.999971	15	22	0	58	0	0	0	0	0	58	2
BARD1	580	broad.mit.edu	37	2	215632245	215632245	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:215632245A>G	ENST00000260947.4	-	6	1663	c.1529T>C	c.(1528-1530)gTc>gCc	p.V510A	BARD1_ENST00000449967.2_Missense_Mutation_p.V366A	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	11	29	0	55	510					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			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		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)		TAACAGCTTGACTATATCCAC	0.408000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				1	1	1	1	1	1	0.999953	15	35	0	62	1	4.832149e-01	4	1	0	62	5
ABCA12	26154	broad.mit.edu	37	2	215868969	215868969	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:215868969C>T	ENST00000272895.7	-	20	2866	c.2647G>A	c.(2647-2649)Gat>Aat	p.D883N	ABCA12_ENST00000389661.4_Missense_Mutation_p.D565N	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	9	18	0	24	883					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		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)		TCAACAGCATCGAGTCCCACG	0.333000													1	1	1	1	1	1	0.999250	11	22	0	28	0	1.238095e-01	1	1	0	28	5
ABCA12	26154	broad.mit.edu	37	2	215884496	215884496	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:215884496C>T	ENST00000272895.7	-	12	1531	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	ABCA12_ENST00000389661.4_Missense_Mutation_p.E120K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	13	33	0	51	438					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		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)		CAAAGAAGTTCGGTCAAGTTT	0.368000													1	1	1	1	1	1	0.999950	15	38	0	54	0	0	0	0	0	54	5
VIL1	7429	broad.mit.edu	37	2	219296879	219296879	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219296879G>A	ENST00000248444.5	+	12	1402	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K	VIL1_ENST00000392114.2_Silent_p.K127K	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	18	28	0	45	438	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			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		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)		TCGGCGAGAAGCAGCATTACC	0.572000													1	1	1	1	1	1	0.999999	20	31	0	46	1	9.999914e-01	21	19	0	46	5
USP37	57695	broad.mit.edu	37	2	219330886	219330886	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219330886A>C	ENST00000258399.3	-	21	2725	c.2313T>G	c.(2311-2313)ttT>ttG	p.F771L	USP37_ENST00000415516.1_Missense_Mutation_p.F677L|USP37_ENST00000418019.1_Missense_Mutation_p.F771L|USP37_ENST00000454775.1_Missense_Mutation_p.F771L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	14	40	0	40	771					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		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)		TTATCTCAGTAAAACTGGCAG	0.378000													1	1	1	1	1	1	0.999880	14	44	0	40	0	2.650147e-01	1	3	0	40	5
PLCD4	84812	broad.mit.edu	37	2	219487377	219487377	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219487377A>G	ENST00000450993.2	+	6	887	c.548A>G	c.(547-549)gAc>gGc	p.D183G	PLCD4_ENST00000417849.1_Missense_Mutation_p.D183G|PLCD4_ENST00000432688.1_Missense_Mutation_p.D183G	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	9	26	0	40	183	EF-hand 2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		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)		CAGGCAGCAGACACGTCCCAG	0.373000													1	1	1	1	1	1	0.996236	9	27	0	40	0	0	0	1	0	40	5
CCDC108	255101	broad.mit.edu	37	2	219900213	219900213	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:219900213C>A	ENST00000341552.5	-	5	614	c.531G>T	c.(529-531)aaG>aaT	p.K177N	CCDC108_ENST00000441968.1_Missense_Mutation_p.K177N|CCDC108_ENST00000453220.1_Missense_Mutation_p.K177N|CCDC108_ENST00000324264.6_Missense_Mutation_p.K112N|CCDC108_ENST00000410037.1_Missense_Mutation_p.K112N|CCDC108_ENST00000409865.3_Missense_Mutation_p.K166N|CCDC108_ENST00000295729.2_Missense_Mutation_p.K112N	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	27	52	0	97	177						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		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)		TGTACTTCATCTTCTGGAGTT	0.468000													1	1	1	1	1	1	1.000000	28	55	0	109	0	0	0	0	0	109	5
SLC23A3	151295	broad.mit.edu	37	2	220026863	220026863	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:220026863C>T	ENST00000455516.2	-	12	1672	c.1625G>A	c.(1624-1626)cGa>cAa	p.R542Q	SLC23A3_ENST00000396775.3_3'UTR|SLC23A3_ENST00000295738.7_Missense_Mutation_p.R417Q|SLC23A3_ENST00000409878.3_Missense_Mutation_p.R534Q	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	10	56	0	81	534					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		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)		CTGAGGCATTCGAGCCTCTTG	0.567000													1	1	1	1	1	1	0.998793	11	59	0	85	0	7.781069e-02	0	3	0	85	5
SLC4A3	6508	broad.mit.edu	37	2	220501573	220501573	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:220501573G>A	ENST00000358055.3	+	16	3024	c.2512G>A	c.(2512-2514)Gag>Aag	p.E838K	SLC4A3_ENST00000317151.3_Missense_Mutation_p.E838K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E838K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E865K|SLC4A3_ENST00000373762.3_Missense_Mutation_p.E865K			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	37	90	0	131	838	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		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)		TTTCATCTACGAGACCTTCTA	0.582000													1	1	1	1	1	1	1.000000	41	98	0	140	1	6.602527e-01	3	4	0	140	5
SLC4A3	6508	broad.mit.edu	37	2	220502517	220502517	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:220502517G>A	ENST00000358055.3	+	17	3262	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	SLC4A3_ENST00000317151.3_Missense_Mutation_p.R917H|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R917H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R944H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R944H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	22	45	0	93	917	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		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)		AGGAACAGCCGCTTCCTGGGG	0.622000													1	1	1	1	1	1	1.000000	26	51	0	107	1	1.196203e-01	2	0	0	107	5
EPHA4	2043	broad.mit.edu	37	2	222307707	222307707	+	Missense_Mutation	SNP	C	C	T	rs147566564		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:222307707C>T	ENST00000281821.2	-	11	1957	c.1916G>A	c.(1915-1917)cGt>cAt	p.R639H	EPHA4_ENST00000392071.4_Missense_Mutation_p.R588H|EPHA4_ENST00000409938.1_Missense_Mutation_p.R639H|EPHA4_ENST00000409854.1_Missense_Mutation_p.R639H	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	16	44	0	85	639	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		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)		CACTTTGAGACGCCCACTGCA	0.448000													1	1	1	1	1	1	0.999972	16	47	0	97	0	0	0	0	0	97	5
FARSB	10056	broad.mit.edu	37	2	223513464	223513464	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:223513464C>A	ENST00000281828.6	-	2	372	c.109G>T	c.(109-111)Gaa>Taa	p.E37*	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	21	55	0	57	37					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		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)	CATACAATTTCATCAAGCTCC	0.299000													1	0	1	1	1	1	1.000000	22	61	0	64	1	9.931773e-01	7	19	0	64	4
MRPL44	65080	broad.mit.edu	37	2	224822309	224822309	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:224822309C>A	ENST00000258383.3	+	1	189	c.120C>A	c.(118-120)cgC>cgA	p.R40R		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	10	35	0	49	40					RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCGCCTTCCGCTTCCAGAAGG	0.692000													1	1	1	1	0	1	0.997951	10	36	0	51	1	9.993954e-01	7	50	0	51	4
DOCK10	55619	broad.mit.edu	37	2	225668910	225668910	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:225668910T>G	ENST00000409592.3	-	39	4282	c.4169A>C	c.(4168-4170)aAa>aCa	p.K1390T	DOCK10_ENST00000258390.7_Missense_Mutation_p.K1396T			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	7	19	0	36	1396							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		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)		CTGCACAAATTTAAATGCAGC	0.373000													1	0	1	1	1	1	0.985191	7	23	0	40	0	6.818182e-02	0	2	0	40	4
DOCK10	55619	broad.mit.edu	37	2	225672668	225672668	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:225672668A>C	ENST00000409592.3	-	32	3640	c.3527T>G	c.(3526-3528)cTa>cGa	p.L1176R	DOCK10_ENST00000258390.7_Missense_Mutation_p.L1182R			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	4	10	0	27	1182							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		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)		CTTAGCCATTAGATTTTTTAG	0.423000													1	0	1	1	1	1	0.949096	5	11	0	31	0	1.228070e-01	0	2	0	31	4
DOCK10	55619	broad.mit.edu	37	2	225761087	225761087	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:225761087T>G	ENST00000409592.3	-	4	436	c.323A>C	c.(322-324)aAa>aCa	p.K108T	DOCK10_ENST00000258390.7_Missense_Mutation_p.K114T|DOCK10_ENST00000474102.1_5'UTR			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	7	13	0	17	114							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		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)		ACTATAAAATTTACAAGCCTG	0.383000													1	0	1	1	1	1	0.986905	7	15	0	20	0	2.676923e-01	0	3	0	20	4
MFF	56947	broad.mit.edu	37	2	228207487	228207487	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228207487G>T	ENST00000353339.3	+	7	986	c.545G>T	c.(544-546)aGa>aTa	p.R182I	MFF_ENST00000349901.7_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000354503.6_Intron|MFF_ENST00000337110.7_Missense_Mutation_p.R156I|MFF_ENST00000409565.1_Intron|MFF_ENST00000409616.1_Intron|MFF_ENST00000524634.1_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.R182I|MFF_ENST00000304593.9_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	16	56	0	69	182						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						TCTGCCCCAAGAAATAAAATT	0.348000													1	1	1	1	1	1	0.999984	17	60	0	79	1	1	48	80	0	79	5
MFF	56947	broad.mit.edu	37	2	228221712	228221712	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228221712T>C	ENST00000353339.3	+	11	1349	c.908T>C	c.(907-909)cTa>cCa	p.L303P	MFF_ENST00000349901.7_Missense_Mutation_p.L199P|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000354503.6_Missense_Mutation_p.L179P|MFF_ENST00000337110.7_Missense_Mutation_p.L204P|MFF_ENST00000409565.1_Missense_Mutation_p.L179P|MFF_ENST00000409616.1_Missense_Mutation_p.L199P|MFF_ENST00000524634.1_Missense_Mutation_p.L50P|MFF_ENST00000392059.1_Missense_Mutation_p.L303P|MFF_ENST00000304593.9_Missense_Mutation_p.L252P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	6	109	0	69	303						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						ATAATCAAACTAAATAGACGT	0.308000													1	0	1	1	0	1	0.966225	6	114	0	71	1	9.181136e-01	2	86	0	71	3
AGFG1	3267	broad.mit.edu	37	2	228416723	228416723	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228416723C>A	ENST00000310078.7	+	11	1687	c.1427C>A	c.(1426-1428)aCt>aAt	p.T476N	AGFG1_ENST00000409315.1_Missense_Mutation_p.T455N|AGFG1_ENST00000409979.2_Missense_Mutation_p.T500N|AGFG1_ENST00000373671.3_Missense_Mutation_p.T436N|AGFG1_ENST00000409171.1_Missense_Mutation_p.T476N	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	5	110	0	120	476					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						GGATTCGGCACTCCTGCTCCC	0.507000													0	0	1	0	0	1	0.966148	6	121	0	132	1	9.262148e-01	9	88	0	132	1
SPHKAP	80309	broad.mit.edu	37	2	228884217	228884217	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:228884217G>A	ENST00000392056.3	-	7	1399	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	SPHKAP_ENST00000344657.5_Silent_p.V451V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	26	58	0	82	451						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		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)		TCTGAACAACGACGATTTTGG	0.507000													1	1	1	1	1	1	1.000000	27	66	0	93	0	0	0	0	0	93	5
DNER	92737	broad.mit.edu	37	2	230411675	230411675	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:230411675C>T	ENST00000341772.4	-	5	1115	c.981G>A	c.(979-981)acG>acA	p.T327T		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	45	80	0	127	327	EGF-like 3.				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			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		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)		CTGACGGCTTCGTGGTGCATT	0.453000													1	1	1	1	1	1	1.000000	49	91	0	143	0	1.255786e-01	1	1	0	143	5
TRIP12	9320	broad.mit.edu	37	2	230642058	230642058	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:230642058C>A	ENST00000283943.5	-	36	5455	c.5277G>T	c.(5275-5277)aaG>aaT	p.K1759N	TRIP12_ENST00000389045.3_Missense_Mutation_p.K1489N|TRIP12_ENST00000389044.4_Missense_Mutation_p.K1807N	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	50	64	0	112	1759					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		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)		CAAGTCTTTTCTTCTGTCTGA	0.378000													1	1	1	1	1	1	1.000000	54	72	0	122	1	1	63	125	0	122	5
TRIP12	9320	broad.mit.edu	37	2	230670526	230670526	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:230670526G>T	ENST00000389045.3	-	15	1607	c.1535C>A	c.(1534-1536)tCt>tAt	p.S512Y	TRIP12_ENST00000283943.5_Intron|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Intron			Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	4	13	0	18	784					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		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)		TTGCTGCATAGAATTAAAATC	0.428000													1	0	1	1	1	1	0.898298	4	14	0	18	1	9.370722e-01	6	15	0	18	4
NCL	4691	broad.mit.edu	37	2	232322392	232322392	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:232322392T>G	ENST00000322723.4	-	9	1649	c.1409A>C	c.(1408-1410)aAt>aCt	p.N470T		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	38	61	0	72	470					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		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)		ATAGTCTTGATTTTGACCTTT	0.418000													1	1	1	1	1	1	1.000000	40	66	0	82	1	1	580	625	0	82	5
COPS7B	64708	broad.mit.edu	37	2	232660931	232660931	+	Missense_Mutation	SNP	G	G	A	rs147144693		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:232660931G>A	ENST00000373608.3	+	5	550	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	COPS7B_ENST00000350033.3_Missense_Mutation_p.R148Q|COPS7B_ENST00000410017.1_Missense_Mutation_p.R148Q|COPS7B_ENST00000410024.1_Missense_Mutation_p.R148Q|COPS7B_ENST00000409091.1_Missense_Mutation_p.R41Q|COPS7B_ENST00000409295.1_Missense_Mutation_p.R114Q			Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	31	33	0	54	148	PCI.				cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CTGGACCAGCGAAACCAGCTG	0.483000													1	1	1	1	1	1	1.000000	34	36	0	56	1	1	46	62	0	56	5
UGT1A10	0	broad.mit.edu	37	2	234545624	234545624	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234545624C>A	ENST00000344644.5	+	1	525	c.456C>A	c.(454-456)acC>acA	p.T152T	UGT1A10_ENST00000373445.1_Silent_p.T152T|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1				39	91	0	99											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		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)		CTTTTGATACCTGTGGCTTAA	0.408000													1	1	1	1	1	1	1.000000	41	95	0	103	0	0	0	0	0	103	5
UGT1A9	0	broad.mit.edu	37	2	234580906	234580906	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234580906T>G	ENST00000354728.4	+	1	408	c.326T>G	c.(325-327)tTa>tGa	p.L109*	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron	NM_021027.2	NP_066307.1				11	74	0	55											breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		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)		TATTCTCTATTAATGGGTTCA	0.338000													1	1	1	1	1	1	0.998706	11	75	0	56	0	0	0	0	0	56	5
UGT1A5	0	broad.mit.edu	37	2	234621645	234621645	+	Missense_Mutation	SNP	C	C	G	rs150697955		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234621645C>G	ENST00000373414.3	+	1	8	c.8C>G	c.(7-9)aCa>aGa	p.T3R	UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron	NM_019078.1	NP_061951.1				29	56	0	59											cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		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)		GAGATGGCCACAGGACTCCAG	0.587000													1	1	1	1	1	1	1.000000	30	63	0	70	1	7.142391e-01	7	0	0	70	5
TRPM8	79054	broad.mit.edu	37	2	234878372	234878372	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:234878372T>C	ENST00000324695.4	+	16	2099	c.2059T>C	c.(2059-2061)Tcc>Ccc	p.S687P	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	28	65	0	95	687						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		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)	TGGAGAGATTTCCCGAGACAC	0.398000													1	1	1	1	1	1	1.000000	32	74	0	111	0	0	0	0	0	111	5
SH3BP4	23677	broad.mit.edu	37	2	235951498	235951498	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:235951498C>T	ENST00000409212.1	+	4	2592	c.2085C>T	c.(2083-2085)ggC>ggT	p.G695G	SH3BP4_ENST00000392011.2_Silent_p.G695G|SH3BP4_ENST00000344528.4_Silent_p.G695G			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	8	85	0	70	695					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		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)		GGCTCCGGGGCCAGCTGTGGA	0.652000													1	1	1	1	1	1	0.994961	9	87	0	72	1	9.638173e-01	7	51	0	72	5
SH3BP4	23677	broad.mit.edu	37	2	235962357	235962357	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:235962357A>C	ENST00000409212.1	+	6	3296	c.2789A>C	c.(2788-2790)aAg>aCg	p.K930T	SH3BP4_ENST00000392011.2_Missense_Mutation_p.K930T|SH3BP4_ENST00000344528.4_Missense_Mutation_p.K930T			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	39	179	0	240	930					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		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)		CCCATCACCAAGCGCTGGAAG	0.577000													1	1	1	1	1	1	1.000000	40	197	0	273	1	9.999943e-01	30	64	0	273	5
AGAP1	116987	broad.mit.edu	37	2	236792005	236792005	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:236792005G>A	ENST00000409538.1	+	10	2358	c.1862G>A	c.(1861-1863)cGa>cAa	p.R621Q	AGAP1_ENST00000428334.2_Missense_Mutation_p.R195Q|AGAP1_ENST00000304032.7_Missense_Mutation_p.R356Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.R356Q			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	17	31	0	48	356	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R356Q(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTGTTGAAGCGAAGTGGCAAA	0.388000													1	1	1	1	1	1	0.999996	18	33	0	50	1	9.780656e-01	3	12	0	50	5
COL6A3	1293	broad.mit.edu	37	2	238277715	238277715	+	Missense_Mutation	SNP	C	C	T	rs138676768		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238277715C>T	ENST00000295550.4	-	10	4843	c.4391G>A	c.(4390-4392)cGa>cAa	p.R1464Q	COL6A3_ENST00000409809.1_Missense_Mutation_p.R1258Q|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1263Q|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1264Q|COL6A3_ENST00000472056.1_Missense_Mutation_p.R857Q|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1258Q	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	7	30	0	35	1464	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		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)		GTTGAGTCTTCGAACAATCCT	0.478000													1	1	1	1	1	1	0.984194	7	31	0	40	0	9.911195e-01	0	43	0	40	5
COL6A3	1293	broad.mit.edu	37	2	238285704	238285704	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238285704A>C	ENST00000295550.4	-	7	3233	c.2781T>G	c.(2779-2781)atT>atG	p.I927M	COL6A3_ENST00000392004.3_Missense_Mutation_p.I721M|COL6A3_ENST00000409809.1_Missense_Mutation_p.I721M|COL6A3_ENST00000392003.2_Missense_Mutation_p.I520M|COL6A3_ENST00000347401.3_Missense_Mutation_p.I726M|COL6A3_ENST00000346358.4_Missense_Mutation_p.I727M|COL6A3_ENST00000472056.1_Missense_Mutation_p.I320M|COL6A3_ENST00000353578.4_Missense_Mutation_p.I721M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	8	80	0	91	927	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		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)		ACTTCACAAAAATGTACCTCT	0.537000													1	1	1	1	0	1	0.990442	8	84	0	101	0	8.263360e-01	0	36	0	101	4
LRRFIP1	9208	broad.mit.edu	37	2	238662113	238662113	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238662113G>T	ENST00000244815.5	+	7	813	c.573G>T	c.(571-573)gaG>gaT	p.E191D	LRRFIP1_ENST00000308482.9_Missense_Mutation_p.E343D|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.E215D|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.E159D	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	17	60	0	61	215					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGTACGAAGAGAAAAACAAAG	0.438000													1	1	1	1	1	1	0.999996	19	65	0	66	1	9.999899e-01	36	40	0	66	5
RBM44	375316	broad.mit.edu	37	2	238725726	238725726	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:238725726A>C	ENST00000316997.4	+	3	299	c.167A>C	c.(166-168)aAt>aCt	p.N56T	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.N56T	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	15	40	0	44	55							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		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)		GATGACTGGAATTCTTCGACA	0.308000													1	1	1	1	1	1	0.999973	16	46	0	55	0	0	0	0	0	55	5
KLHL30	377007	broad.mit.edu	37	2	239049878	239049878	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:239049878C>A	ENST00000409223.1	+	2	590	c.483C>A	c.(481-483)aaC>aaA	p.N161K	KLHL30_ENST00000305959.4_Missense_Mutation_p.N143K			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	4	27	0	31	161	BACK.									lung(4)	4		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)		TGCGAGAGAACTTTGAGGCTG	0.642000													0	0	1	1	1	1	0.894644	4	28	0	33	0	0	0	0	0	33	3
ILKAP	80895	broad.mit.edu	37	2	239093869	239093869	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:239093869A>C	ENST00000254654.3	-	6	660	c.485T>G	c.(484-486)tTt>tGt	p.F162C		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	12	16	0	34	162	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CTGTGCAGCAAATTTTGAGGC	0.353000													1	1	1	1	1	1	0.999728	12	17	0	40	1	1	59	82	0	40	5
PER2	8864	broad.mit.edu	37	2	239174207	239174207	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:239174207C>A	ENST00000254657.3	-	9	1271	c.992G>T	c.(991-993)aGa>aTa	p.R331I	PER2_ENST00000355768.2_Missense_Mutation_p.R331I|PER2_ENST00000440245.1_Missense_Mutation_p.R331I|PER2_ENST00000254658.3_Missense_Mutation_p.R331I	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	19	41	0	51	331	PAS 2.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		TGTAAAAATTCTCTTTTCAGG	0.358000													1	1	1	1	1	1	1.000000	23	47	0	56	1	9.614381e-01	5	9	0	56	5
MYEOV2	150678	broad.mit.edu	37	2	241066116	241066116	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:241066116C>T	ENST00000307266.3	-	5	622	c.623G>A	c.(622-624)cGa>cAa	p.R208Q		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	27	87	0	110	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCTGACCTCTCGCCTGCTTCT	0.478000													1	1	1	1	1	1	1.000000	29	93	0	119	0	0	0	0	0	119	5
KIF1A	547	broad.mit.edu	37	2	241660374	241660374	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:241660374A>G	ENST00000498729.2	-	45	5071	c.4825T>C	c.(4825-4827)Tgc>Cgc	p.C1609R	KIF1A_ENST00000320389.7_Missense_Mutation_p.C1508R	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	9	11	0	10	1508	PH.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		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)		AGAGAGGGGCAAGTGGAGGAG	0.647000													0	1	1	1	1	1	0.997656	9	11	0	10	1	1	52	67	0	10	4
KIF1A	547	broad.mit.edu	37	2	241661294	241661294	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:241661294C>T	ENST00000498729.2	-	44	4919	c.4673G>A	c.(4672-4674)cGc>cAc	p.R1558H	KIF1A_ENST00000320389.7_Missense_Mutation_p.R1457H	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	11	18	0	22	1457					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		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)		CGTGAGCAGGCGCAAGCACTG	0.647000													1	1	1	1	1	1	0.999686	12	20	0	25	1	1	80	62	0	25	5
PASK	23178	broad.mit.edu	37	2	242066686	242066686	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242066686A>C	ENST00000403638.3	-	10	1735	c.1644T>G	c.(1642-1644)gaT>gaG	p.D548E	PASK_ENST00000358649.4_Missense_Mutation_p.D548E|PASK_ENST00000544142.1_Missense_Mutation_p.D362E|PASK_ENST00000405260.1_Missense_Mutation_p.D548E|PASK_ENST00000539818.1_Missense_Mutation_p.D332E|PASK_ENST00000234040.4_Missense_Mutation_p.D548E	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	93	148	0	257	548					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		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)		GAGCTTCAGAATCTTCGCAGG	0.572000													1	1	1	1	1	1	1.000000	103	161	0	290	1	9.985698e-01	6	13	0	290	5
PASK	23178	broad.mit.edu	37	2	242079418	242079418	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242079418T>C	ENST00000403638.3	-	4	573	c.482A>G	c.(481-483)gAc>gGc	p.D161G	PASK_ENST00000358649.4_Missense_Mutation_p.D161G|PASK_ENST00000544142.1_Intron|PASK_ENST00000405260.1_Missense_Mutation_p.D161G|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Missense_Mutation_p.D161G	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	14	20	0	44	161	PAS 1.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		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)		GCCAATCAGGTCCTGGCTGCT	0.587000													1	1	1	1	1	1	0.999934	14	22	0	46	1	9.973796e-01	11	10	0	46	5
PASK	23178	broad.mit.edu	37	2	242079939	242079939	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242079939T>G	ENST00000403638.3	-	3	517	c.426A>C	c.(424-426)acA>acC	p.T142T	PASK_ENST00000358649.4_Silent_p.T142T|PASK_ENST00000544142.1_Intron|PASK_ENST00000405260.1_Silent_p.T142T|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Silent_p.T142T	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	4	10	0	18	142	PAS 1.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		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)		CAAATACCTCTGTGGTCTTGG	0.498000													1	0	1	1	1	1	0.900958	4	10	0	18	1	9.381411e-01	8	8	0	18	4
SEPT2	4735	broad.mit.edu	37	2	242274562	242274562	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242274562C>T	ENST00000391973.2	+	4	680	c.152C>T	c.(151-153)tCg>tTg	p.S51L	SEPT2_ENST00000360051.3_Missense_Mutation_p.S51L|SEPT2_ENST00000391971.2_Missense_Mutation_p.S51L|SEPT2_ENST00000407971.1_Missense_Mutation_p.S11L|SEPT2_ENST00000401990.1_Missense_Mutation_p.S51L|SEPT2_ENST00000402092.2_Missense_Mutation_p.S51L	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	8	8	0	14	51					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		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)		CTAGGAAAATCGACTCTCATA	0.363000													0	1	1	1	1	1	0.995588	8	8	0	17	1	1	126	172	0	17	4
PDCD1	5133	broad.mit.edu	37	2	242795030	242795030	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:242795030G>A	ENST00000334409.5	-	2	248	c.179C>T	c.(178-180)tCg>tTg	p.S60L		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	14	26	0	30	60	Ig-like V-type.				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		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)		GAAGCTCTCCGATGTGTTGGA	0.657000													1	1	1	1	1	1	0.999916	14	28	0	33	0	5.463796e-01	0	5	0	33	5
CHL1	10752	broad.mit.edu	37	3	391106	391106	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:391106G>T	ENST00000256509.2	+	10	1555	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.E289*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	18	35	0	66	289	Ig-like C2-type 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		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)		AGAAACAAAAGAAAATTATGG	0.383000													1	1	1	1	0	1	0.999996	18	37	0	68	0	0	0	0	0	68	4
CHL1	10752	broad.mit.edu	37	3	424189	424189	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:424189G>T	ENST00000256509.2	+	18	2653	c.2011G>T	c.(2011-2013)Gag>Tag	p.E671*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.E655*|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	30	86	0	140	655	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		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)		AAACAAAGAAGAGCCTGGAAG	0.373000													1	1	1	1	1	1	1.000000	34	95	0	159	0	0	0	0	0	159	5
CNTN4	152330	broad.mit.edu	37	3	3097838	3097838	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:3097838G>A	ENST00000397461.1	+	24	3399	c.3015G>A	c.(3013-3015)tcG>tcA	p.S1005S	CNTN4_ENST00000448906.2_Silent_p.S677S|CNTN4_ENST00000418658.1_Silent_p.S1005S|CNTN4_ENST00000358480.3_Silent_p.S786S|CNTN4_ENST00000397459.2_Silent_p.S677S|CNTN4_ENST00000427331.1_Silent_p.S1005S|CNTN4-AS1_ENST00000442749.2_RNA	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	12	30	0	60	1005					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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTTCCACTTCGAATGCATGTA	0.463000													1	1	1	1	1	1	0.999789	13	33	0	68	0	5.517883e-01	0	6	0	68	5
ITPR1	3708	broad.mit.edu	37	3	4854917	4854917	+	Splice_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:4854917A>C	ENST00000302640.8	+	56	7865	c.7516_splice	c.e56+1	p.E2505_splice	ITPR1_ENST00000544951.1_Splice_Site_p.E483_splice|ITPR1_ENST00000357086.4_Splice_Site_p.E2472_splice|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Splice_Site_p.E2457_splice|ITPR1_ENST00000443694.2_Splice_Site_p.E2505_splice|ITPR1_ENST00000423119.2_Splice_Site_p.E2472_splice|ITPR1_ENST00000354582.6_Splice_Site_p.E2505_splice	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	8	79	0	92	2520	Interaction with ERP44 (By similarity).				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			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CACCCAGAGAAGGTAGGACCT	0.517000													1	0	1	1	0	1	0.990370	8	90	0	98	1	1.625007e-01	2	6	0	98	3
EDEM1	9695	broad.mit.edu	37	3	5255095	5255095	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:5255095G>A	ENST00000256497.4	+	11	1905	c.1772G>A	c.(1771-1773)cGg>cAg	p.R591Q		NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	9	19	0	25	591					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			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GAGCATCTTCGGGAATTGCCA	0.473000													1	1	1	1	1	1	0.996615	9	21	0	28	1	9.943688e-01	8	19	0	28	5
GRM7	2917	broad.mit.edu	37	3	7494314	7494314	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:7494314G>T	ENST00000486284.1	+	6	1469	c.1195G>T	c.(1195-1197)Gat>Tat	p.D399Y	GRM7_ENST00000357716.4_Missense_Mutation_p.D399Y|GRM7_ENST00000403881.1_Missense_Mutation_p.D399Y|GRM7_ENST00000389336.4_Missense_Mutation_p.D399Y|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.D399Y	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	11	51	0	56	399					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	p.D399Y(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AATTGGAAAAGATTCCAACTA	0.433000													1	1	1	1	1	1	0.999430	12	52	0	61	0	0	0	0	0	61	5
SSUH2	51066	broad.mit.edu	37	3	8667970	8667970	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:8667970C>T	ENST00000317371.4	-	16	1871	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	SSUH2_ENST00000341795.3_Missense_Mutation_p.A216T|SSUH2_ENST00000415132.1_Missense_Mutation_p.A216T|SSUH2_ENST00000544814.1_Missense_Mutation_p.A238T					ssu-2 homolog (C. elegans)	53	102	0	183																		TTGCAGGTGGCGCAGGTCTTG	0.572000													1	1	1	1	1	1	1.000000	60	107	0	197	0	1.316394e-01	1	1	0	197	5
OXTR	5021	broad.mit.edu	37	3	8809319	8809319	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:8809319G>A	ENST00000316793.3	-	3	1179	c.555C>T	c.(553-555)ttC>ttT	p.F185F	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	43	54	0	69	185					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	CCCAGCAGTCGAAGACGCCGT	0.662000													1	1	1	1	1	1	1.000000	49	57	0	82	0	0	0	1	0	82	5
RAD18	56852	broad.mit.edu	37	3	8981263	8981263	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:8981263C>T	ENST00000264926.2	-	6	795	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	12	46	0	53	227					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TTCTTCTCTTCGCGTGATAAA	0.403000								Rad6 pathway					1	1	1	1	1	1	0.999874	14	47	0	58	1	9.139762e-01	2	15	0	58	5
SETD5	55209	broad.mit.edu	37	3	9489440	9489440	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:9489440G>A	ENST00000402466.1	+	16	2327	c.1559G>A	c.(1558-1560)cGa>cAa	p.R520Q	SETD5_ENST00000407969.1_Missense_Mutation_p.R637Q|SETD5_ENST00000302463.6_Missense_Mutation_p.R520Q|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000406341.1_Missense_Mutation_p.R618Q|SETD5_ENST00000402198.1_Missense_Mutation_p.R618Q			Q9C0A6	SETD5_HUMAN	SET domain containing 5	46	103	1	166	618								p.R520L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCGAAGAGTCGAATTTCTCGG	0.522000													1	0	1	1	1	1	1.000000	51	109	1	188	1	9.989135e-01	12	14	1	188	4
RPUSD3	285367	broad.mit.edu	37	3	9883747	9883747	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:9883747C>T	ENST00000383820.5	-	4	328	c.327G>A	c.(325-327)acG>acA	p.T109T	RPUSD3_ENST00000433535.2_Silent_p.T94T|TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000485705.1_5'UTR|RPUSD3_ENST00000424438.1_Silent_p.T77T	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	72	94	0	171	109					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					CTGAGAACAACGTCAGCTCTC	0.522000													1	1	1	1	1	1	1.000000	73	97	0	180	1	1	20	31	0	180	5
TATDN2	9797	broad.mit.edu	37	3	10311962	10311962	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:10311962G>A	ENST00000287652.4	+	4	2147	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	TATDN2_ENST00000448281.2_Missense_Mutation_p.D366N|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	56	93	0	155	366						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTTCACCACCGACTATGTCAT	0.537000													1	1	1	1	1	1	1.000000	58	100	0	168	1	9.998819e-01	14	14	0	168	5
SLC6A11	6538	broad.mit.edu	37	3	10970992	10970992	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:10970992C>A	ENST00000254488.2	+	10	1404	c.1338C>A	c.(1336-1338)atC>atA	p.I446I		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	42	82	0	168	446					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TGTCTGTTATCTCCTATTTTC	0.567000													1	1	1	1	1	1	1.000000	43	83	0	169	0	0	0	0	0	169	5
SLC6A1	6529	broad.mit.edu	37	3	11064023	11064023	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:11064023C>T	ENST00000287766.4	+	7	1004	c.581_splice	c.e7-1	p.R195_splice	SLC6A1_ENST00000536032.1_Splice_Site_p.R17_splice	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	13	29	0	37	195					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TTTGACCAGGCGCAACATGCA	0.602000													1	1	1	1	1	1	0.999956	15	33	0	42	0	0	0	0	0	42	5
TSEN2	80746	broad.mit.edu	37	3	12531417	12531417	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12531417T>G	ENST00000444864.1	+	2	505	c.118T>G	c.(118-120)Ttc>Gtc	p.F40V	TSEN2_ENST00000454502.2_Missense_Mutation_p.F40V|TSEN2_ENST00000415684.1_Missense_Mutation_p.F40V|TSEN2_ENST00000402228.3_Missense_Mutation_p.F40V|TSEN2_ENST00000314571.7_Missense_Mutation_p.F40V|TSEN2_ENST00000284995.6_Missense_Mutation_p.F40V|TSEN2_ENST00000383797.5_Missense_Mutation_p.F40V	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	33	48	0	79	40					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(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						ATTCAAGATATTCCGTGCTGA	0.448000													1	1	1	1	1	1	1.000000	34	49	0	82	1	9.518276e-01	6	4	0	82	5
TSEN2	80746	broad.mit.edu	37	3	12544934	12544934	+	Missense_Mutation	SNP	T	T	C	rs36084365		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12544934T>C	ENST00000444864.1	+	5	869	c.482T>C	c.(481-483)aTg>aCg	p.M161T	TSEN2_ENST00000454502.2_Missense_Mutation_p.M161T|TSEN2_ENST00000415684.1_Missense_Mutation_p.M161T|TSEN2_ENST00000402228.3_Missense_Mutation_p.M161T|TSEN2_ENST00000314571.7_Missense_Mutation_p.M161T|TSEN2_ENST00000284995.6_Missense_Mutation_p.M161T|TSEN2_ENST00000383797.5_Missense_Mutation_p.M161T	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	12	44	0	68	161					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(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GTTTCCAACATGGAAGGCACA	0.522000													1	1	1	1	1	1	0.999455	12	47	0	75	1	9.710002e-01	11	16	0	75	5
TSEN2	80746	broad.mit.edu	37	3	12571276	12571276	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12571276C>T	ENST00000444864.1	+	9	1461	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	TSEN2_ENST00000454502.2_Silent_p.I325I|TSEN2_ENST00000415684.1_Silent_p.I358I|TSEN2_ENST00000402228.3_Silent_p.I384I|TSEN2_ENST00000314571.7_Silent_p.I358I|TSEN2_ENST00000284995.6_Silent_p.I384I|TSEN2_ENST00000383797.5_Silent_p.I367I|C3orf83_ENST00000567514.1_Intron	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	19	34	1	58	384					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(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CTGTCATTATCGAGCTAGTTG	0.373000													1	0	1	1	1	1	0.999766	19	37	1	70	1	9.560268e-01	5	13	1	70	4
CAND2	23066	broad.mit.edu	37	3	12858428	12858428	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:12858428G>A	ENST00000456430.2	+	10	2038	c.1997G>A	c.(1996-1998)cGg>cAg	p.R666Q	CAND2_ENST00000295989.5_Missense_Mutation_p.R573Q	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	43	58	0	96	666					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AAGAACCAGCGGGCTTTGCGA	0.667000													1	1	1	1	1	1	1.000000	44	63	0	96	1	8.495163e-01	2	5	0	96	5
NUP210	23225	broad.mit.edu	37	3	13420466	13420466	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:13420466C>A	ENST00000254508.5	-	8	1073	c.991G>T	c.(991-993)Ggt>Tgt	p.G331C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	28	46	0	95	331					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTAGAAGCACCTTGCATGCGA	0.498000													1	1	1	1	1	1	1.000000	29	49	0	99	1	9.999999e-01	28	27	0	99	5
TMEM43	79188	broad.mit.edu	37	3	14172445	14172445	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:14172445C>T	ENST00000306077.4	+	3	540	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	12	66	0	101	96						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TGGCGCCTTACGGACATCCAA	0.582000													1	1	1	1	1	1	0.999922	15	73	0	113	1	9.994877e-01	15	53	0	113	5
C3orf20	84077	broad.mit.edu	37	3	14724344	14724344	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:14724344G>T	ENST00000253697.3	+	3	576	c.124G>T	c.(124-126)Ggc>Tgc	p.G42C	C3orf20_ENST00000435614.1_Intron|C3orf20_ENST00000412910.1_Intron	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	26	92	0	125	42			G -> D (in dbSNP:rs17040154).			cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGTACCAAAAGGCATCAGAAA	0.512000													1	1	1	1	1	1	1.000000	31	99	0	137	0	0	0	0	0	137	5
C3orf20	84077	broad.mit.edu	37	3	14745900	14745900	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:14745900G>A	ENST00000253697.3	+	7	1387	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Missense_Mutation_p.R190Q|C3orf20_ENST00000412910.1_Missense_Mutation_p.R190Q	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	32	51	0	66	312						cytoplasm|integral to membrane		p.R312Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ATGATCTTACGAAACTACAAG	0.493000													1	1	1	1	1	1	1.000000	33	51	0	69	0	0	0	0	0	69	5
CAPN7	23473	broad.mit.edu	37	3	15275456	15275456	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:15275456A>C	ENST00000253693.2	+	11	1515	c.1262A>C	c.(1261-1263)aAt>aCt	p.N421T		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	19	32	0	54	421	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AGTAAGGATAATTCTTTCAGA	0.383000													1	1	1	1	1	1	0.999998	19	36	0	55	1	9.864464e-01	6	11	0	55	5
DPH3	285381	broad.mit.edu	37	3	16302288	16302288	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:16302288C>A	ENST00000488423.1	-	3	327	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	DPH3_ENST00000383775.4_Nonsense_Mutation_p.E53*|DPH3_ENST00000285082.4_5'UTR	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	7	13	0	21	78					negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding	cytoplasm|nucleus	metal ion binding|protein binding			large_intestine(2)	2						TTAACTAATTCTTTGTTGGCT	0.413000													1	0	1	1	1	1	0.994006	8	14	0	26	1	9.999815e-01	23	38	0	26	4
DAZL	1618	broad.mit.edu	37	3	16633591	16633591	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:16633591C>A	ENST00000250863.8	-	10	1147	c.860G>T	c.(859-861)aGa>aTa	p.R287I	DAZL_ENST00000399444.2_Missense_Mutation_p.R267I	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN	deleted in azoospermia-like	36	76	0	90	267					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						AACAGAGTTTCTCAGTCTGTT	0.363000													1	1	1	1	1	1	1.000000	44	86	0	103	0	0	0	0	0	103	5
PLCL2	23228	broad.mit.edu	37	3	17052807	17052807	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:17052807G>A	ENST00000418129.2	+	2	2056	c.1591G>A	c.(1591-1593)Gcc>Acc	p.A531T	PLCL2_ENST00000396755.2_Missense_Mutation_p.A531T|PLCL2_ENST00000432376.1_Missense_Mutation_p.A531T	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	38	78	0	98	657	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CAGCAAGTACGCCAATGAAAA	0.403000													1	1	1	1	1	1	1.000000	41	84	0	113	0	2.575049e-01	0	3	0	113	5
TBC1D5	9779	broad.mit.edu	37	3	17279903	17279903	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:17279903G>A	ENST00000253692.7	-	17	3004	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	TBC1D5_ENST00000446818.2_Missense_Mutation_p.A447V|TBC1D5_ENST00000429383.4_Missense_Mutation_p.A447V|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.A399V	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	6	18	0	23	447						intracellular	protein binding|Rab GTPase activator activity	p.A447G(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGCACCTTTGGCATTGGTCCT	0.383000													1	0	1	1	1	1	0.985716	7	20	0	28	1	9.325805e-01	4	13	0	28	4
SATB1	6304	broad.mit.edu	37	3	18438680	18438680	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:18438680C>A	ENST00000338745.6	-	6	2476	c.742G>T	c.(742-744)Gat>Tat	p.D248Y	SATB1_ENST00000454909.2_Missense_Mutation_p.D248Y|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.D248Y	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	17	44	0	57	248	Nuclear matrix targeting sequence (NMTS).				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	p.D248Y(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCATCATATCTTTTGTCTTC	0.368000													1	1	1	1	1	1	0.999994	18	48	0	59	1	9.999851e-01	14	46	0	59	5
SGOL1	151648	broad.mit.edu	37	3	20219833	20219833	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:20219833C>T	ENST00000412997.1	-	4	697	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	SGOL1_ENST00000383774.1_Missense_Mutation_p.E116K|SGOL1_ENST00000417364.1_Missense_Mutation_p.E116K|SGOL1_ENST00000421451.1_Missense_Mutation_p.E116K|SGOL1_ENST00000306698.2_Missense_Mutation_p.E116K|SGOL1_ENST00000443724.1_Missense_Mutation_p.E116K|SGOL1_ENST00000437051.1_Missense_Mutation_p.E116K|SGOL1_ENST00000419233.2_Missense_Mutation_p.E116K|SGOL1_ENST00000263753.4_Missense_Mutation_p.E116K|SGOL1_ENST00000442720.1_Missense_Mutation_p.E116K|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000425061.1_Missense_Mutation_p.E116K|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412868.1_Missense_Mutation_p.E116K|SGOL1_ENST00000429446.3_Missense_Mutation_p.E116K|SGOL1_ENST00000452020.1_Missense_Mutation_p.E116K	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	13	28	0	61	116	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			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						GAACATATTTCCTGGTTCTGT	0.313000													1	1	1	1	1	1	0.999956	15	33	0	76	1	9.983484e-01	17	12	0	76	5
ZNF385D	79750	broad.mit.edu	37	3	21552454	21552454	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:21552454G>A	ENST00000281523.2	-	4	856	c.338C>T	c.(337-339)gCc>gTc	p.A113V	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	31	53	0	83	113						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATTTTTCATGGCTTCCAGTGC	0.463000													1	1	1	1	1	1	1.000000	34	54	0	86	0	3.377926e-01	0	3	0	86	5
NR1D2	9975	broad.mit.edu	37	3	24018775	24018775	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:24018775A>G	ENST00000312521.4	+	8	1924	c.1605A>G	c.(1603-1605)gcA>gcG	p.A535A	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	8	17	0	37	535					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TCATTCGTGCACTAAGGACCT	0.388000													1	1	1	1	1	1	0.996859	9	18	0	40	1	9.759061e-01	11	6	0	40	5
LRRC3B	116135	broad.mit.edu	37	3	26751258	26751258	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:26751258G>A	ENST00000396641.2	+	2	687	c.95G>A	c.(94-96)aGt>aAt	p.S32N	LRRC3B_ENST00000456208.2_Missense_Mutation_p.S32N|LRRC3B_ENST00000417744.1_Missense_Mutation_p.S32N	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	32	34	0	90	32						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CATTCTGCCAGTATGTGTCCC	0.448000													1	1	1	1	1	1	1.000000	32	34	0	95	0	0	0	1	0	95	5
EOMES	8320	broad.mit.edu	37	3	27760902	27760902	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:27760902G>A	ENST00000295743.4	-	3	1310	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	EOMES_ENST00000537516.1_Silent_p.F74F|EOMES_ENST00000461503.1_5'UTR|EOMES_ENST00000449599.1_Silent_p.F369F			O95936	EOMES_HUMAN	eomesodermin	38	75	0	114	369					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			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TTAATTTCCCGAATGAAATCT	0.418000													1	1	1	1	1	1	1.000000	42	79	0	121	0	1.240493e-01	0	2	0	121	5
GADL1	339896	broad.mit.edu	37	3	30885949	30885949	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:30885949A>C	ENST00000454381.3	-	7	707	c.661T>G	c.(661-663)Tct>Gct	p.S221A	GADL1_ENST00000282538.5_Missense_Mutation_p.S221A			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	41	64	0	100	221					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TTCTTCATAGAGTAATGACAC	0.428000													1	1	1	1	1	1	1.000000	43	65	0	101	0	0	0	0	0	101	5
ZNF860	344787	broad.mit.edu	37	3	32031204	32031204	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:32031204C>A	ENST00000360311.4	+	2	1182	c.633C>A	c.(631-633)ttC>ttA	p.F211L		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	29	51	0	54	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAAATAATTTCTTCCATTCAT	0.343000													1	0	1	1	1	1	1.000000	29	52	0	55	0	0	0	0	0	55	4
DCLK3	85443	broad.mit.edu	37	3	36779844	36779844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36779844C>A	ENST00000416516.2	-	2	797	c.307G>T	c.(307-309)Gaa>Taa	p.E103*		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	60	123	0	203	103						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTACTGGGTTCTGGCTCCCAT	0.582000													1	1	1	1	1	1	1.000000	62	125	0	208	0	0	0	0	0	208	5
TRANK1	9881	broad.mit.edu	37	3	36873394	36873394	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36873394C>T	ENST00000429976.2	-	21	7795	c.7548G>A	c.(7546-7548)gaG>gaA	p.E2516E	TRANK1_ENST00000428977.2_Silent_p.E1966E|TRANK1_ENST00000301807.6_Silent_p.E1966E			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	42	98	0	156	2516					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCAGTGTCCGCTCAGCCTCAC	0.527000													1	1	1	1	1	1	1.000000	43	105	0	159	1	9.724517e-01	13	4	0	159	5
TRANK1	9881	broad.mit.edu	37	3	36874612	36874612	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36874612T>G	ENST00000429976.2	-	21	6577	c.6330A>C	c.(6328-6330)aaA>aaC	p.K2110N	TRANK1_ENST00000428977.2_Missense_Mutation_p.K1560N|TRANK1_ENST00000301807.6_Missense_Mutation_p.K1560N			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	4	8	0	20	2110					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAAAATGATCTTTTGTTTTTT	0.418000													1	0	1	1	1	1	0.903106	4	8	0	22	1	8.820693e-01	3	8	0	22	4
TRANK1	9881	broad.mit.edu	37	3	36875328	36875328	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36875328C>T	ENST00000429976.2	-	21	5861	c.5614G>A	c.(5614-5616)Gca>Aca	p.A1872T	TRANK1_ENST00000428977.2_Missense_Mutation_p.A1322T|TRANK1_ENST00000301807.6_Missense_Mutation_p.A1322T			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	33	65	0	80	1872					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGATACTTTGCTGCAGCTTCC	0.433000													1	1	1	1	1	1	1.000000	34	69	0	83	0	6.427548e-01	1	5	0	83	5
TRANK1	9881	broad.mit.edu	37	3	36897168	36897168	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36897168C>A	ENST00000429976.2	-	12	4160	c.3913G>T	c.(3913-3915)Gaa>Taa	p.E1305*	TRANK1_ENST00000428977.2_Nonsense_Mutation_p.E755*|TRANK1_ENST00000301807.6_Nonsense_Mutation_p.E755*			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	16	114	0	149	1305					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GATTTTATTTCTTTCCAAATC	0.458000													1	1	1	1	1	1	0.999976	17	122	0	159	0	1.280470e-01	0	5	0	159	5
TRANK1	9881	broad.mit.edu	37	3	36897903	36897903	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:36897903C>T	ENST00000429976.2	-	12	3425	c.3178G>A	c.(3178-3180)Gca>Aca	p.A1060T	TRANK1_ENST00000428977.2_Missense_Mutation_p.A510T|TRANK1_ENST00000301807.6_Missense_Mutation_p.A510T			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	14	25	0	32	1060					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGGCTTCCTGCCTGCTCAGCT	0.527000													1	1	1	1	1	1	0.999965	15	25	0	32	0	0	1	0	0	32	5
EPM2AIP1	9852	broad.mit.edu	37	3	37033157	37033157	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37033157A>C	ENST00000322716.5	-	1	1638	c.1412T>G	c.(1411-1413)tTt>tGt	p.F471C		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	8	14	0	26	471						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						ATGTCTCTCAAATTCTTTTTG	0.328000													1	1	1	1	1	1	0.993814	8	15	0	26	1	7.494196e-01	3	4	0	26	5
LRRFIP2	9209	broad.mit.edu	37	3	37107798	37107798	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37107798C>A	ENST00000421307.1	-	23	1905	c.1483G>T	c.(1483-1485)Gaa>Taa	p.E495*	LRRFIP2_ENST00000421276.2_Intron|LRRFIP2_ENST00000440230.1_Intron|LRRFIP2_ENST00000396428.2_Intron|LRRFIP2_ENST00000354379.4_Intron|LRRFIP2_ENST00000336686.4_Nonsense_Mutation_p.E495*	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	28	43	0	108	495					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCAATGTATTCTTTCTGTTTC	0.468000													1	1	1	1	1	1	1.000000	35	44	0	121	0	1	0	75	0	121	5
GOLGA4	2803	broad.mit.edu	37	3	37285051	37285051	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37285051A>G	ENST00000361924.2	+	1	384	c.10A>G	c.(10-12)Aaa>Gaa	p.K4E	GOLGA4_ENST00000435830.2_3'UTR|RP11-259K5.2_ENST00000604992.1_RNA|GOLGA4_ENST00000444882.1_Missense_Mutation_p.K4E|GOLGA4_ENST00000356847.4_Missense_Mutation_p.K4E	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	21	45	1	80	4					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CATGTTCAAGAAACTGAAGCA	0.617000													1	0	1	1	1	1	0.999995	25	47	1	97	0	5.691194e-01	1	4	1	97	4
GOLGA4	2803	broad.mit.edu	37	3	37365881	37365881	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37365881G>T	ENST00000361924.2	+	14	2878	c.2504G>T	c.(2503-2505)aGa>aTa	p.R835I	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.R857I	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	34	83	0	117	835	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAACAGAAAGAATTCTTCTT	0.413000													1	1	1	1	1	1	1.000000	35	88	0	122	0	7.119587e-01	0	8	0	122	5
GOLGA4	2803	broad.mit.edu	37	3	37368058	37368058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37368058G>T	ENST00000361924.2	+	14	5055	c.4681G>T	c.(4681-4683)Gaa>Taa	p.E1561*	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E1583*	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	37	63	0	115	1561	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.E1561*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGAACACAAAGAATTGGTTCA	0.308000													1	1	1	1	1	1	1.000000	40	69	0	126	1	9.987755e-01	5	17	0	126	5
ITGA9	3680	broad.mit.edu	37	3	37821468	37821468	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:37821468A>G	ENST00000264741.5	+	25	2999	c.2743A>G	c.(2743-2745)Act>Gct	p.T915A	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	25	48	0	69	915					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		AGAAAGTCGTACTATAGACAT	0.373000													1	1	1	1	1	1	1.000000	25	53	0	77	0	2.510163e-01	0	3	0	77	5
DLEC1	9940	broad.mit.edu	37	3	38163210	38163210	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38163210G>A	ENST00000308059.6	+	35	4979	c.4958G>A	c.(4957-4959)cGa>cAa	p.R1653Q	DLEC1_ENST00000452631.2_Missense_Mutation_p.R1656Q|DLEC1_ENST00000346219.3_Missense_Mutation_p.R1653Q			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	25	52	0	113	1653					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGCCAGCAGCGAGTCCGGGAG	0.632000													1	1	1	1	1	1	1.000000	29	55	0	120	0	1.242983e-01	1	1	0	120	5
SCN11A	11280	broad.mit.edu	37	3	38936224	38936224	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38936224C>T	ENST00000302328.3	-	15	2833	c.2635G>A	c.(2635-2637)Gac>Aac	p.D879N	SCN11A_ENST00000456224.3_Missense_Mutation_p.D879N|SCN11A_ENST00000444237.2_Missense_Mutation_p.D879N|SCN11A_ENST00000450244.1_Missense_Mutation_p.D879N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	24	48	0	90	879					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGAATGATGTCTTTGCTTTGT	0.507000													1	1	1	1	1	1	1.000000	25	50	0	99	0	0	0	0	0	99	5
SCN11A	11280	broad.mit.edu	37	3	38968336	38968336	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38968336C>T	ENST00000302328.3	-	4	773	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.R192Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.R192Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.R192Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	56	78	0	147	192					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCATGGATCTCGAAGGAAAGA	0.378000													1	1	1	1	1	1	1.000000	64	82	0	154	0	0	0	0	0	154	5
SCN11A	11280	broad.mit.edu	37	3	38991631	38991631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:38991631C>A	ENST00000302328.3	-	1	421	c.223G>T	c.(223-225)Gga>Tga	p.G75*	SCN11A_ENST00000456224.3_Nonsense_Mutation_p.G75*|SCN11A_ENST00000444237.2_Nonsense_Mutation_p.G75*|SCN11A_ENST00000450244.1_Nonsense_Mutation_p.G75*	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	44	82	0	126	75					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGAGGCTTTCCTATGAGCTCA	0.562000													1	1	1	1	0	1	1.000000	47	87	0	135	0	0	0	0	0	135	4
WDR48	57599	broad.mit.edu	37	3	39116403	39116403	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39116403C>T	ENST00000302313.5	+	8	887	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.R205W|WDR48_ENST00000544962.1_Missense_Mutation_p.R79W	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	16	37	0	46	287					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCTGACATTCGGGTGCTAAT	0.383000													1	1	1	1	1	1	0.999989	17	39	0	50	1	9.783060e-01	6	11	0	50	5
TTC21A	199223	broad.mit.edu	37	3	39159652	39159652	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39159652C>A	ENST00000301819.6	+	7	986	c.809C>A	c.(808-810)tCt>tAt	p.S270Y	TTC21A_ENST00000431162.2_Missense_Mutation_p.S270Y|TTC21A_ENST00000440121.1_Intron	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	32	57	0	110	270							binding	p.S270Y(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ACAGTAAGTTCTTTGAAGACT	0.458000													1	1	1	1	1	1	1.000000	36	58	0	118	0	0	0	0	0	118	5
CCR8	1237	broad.mit.edu	37	3	39374588	39374588	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39374588G>A	ENST00000326306.4	+	2	904	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	CCR8_ENST00000545843.1_Missense_Mutation_p.V173M|CCR8_ENST00000414803.1_3'UTR	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	15	29	0	49	256					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CCCATTCAACGTGGTTCTTTT	0.463000													1	1	1	1	1	1	0.999981	16	32	0	53	0	0	0	0	0	53	5
RPSA	3921	broad.mit.edu	37	3	39449160	39449160	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:39449160G>A	ENST00000301821.6	+	2	125	c.16G>A	c.(16-18)Gat>Aat	p.D6N	RPSA_ENST00000443003.1_Missense_Mutation_p.D6N	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	24	23	0	49	6					cell adhesion|endocrine pancreas development|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 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		Cggagcccttgatgtcctgca	0.438000													1	1	1	1	1	1	1.000000	25	24	0	49	1	1	706	779	0	49	5
ZNF619	285267	broad.mit.edu	37	3	40528772	40528772	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:40528772G>T	ENST00000447116.2	+	6	1198	c.891G>T	c.(889-891)gaG>gaT	p.E297D	ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000522736.1_Missense_Mutation_p.E248D|ZNF619_ENST00000429348.2_Missense_Mutation_p.E257D|ZNF619_ENST00000432264.2_Missense_Mutation_p.E257D|ZNF619_ENST00000521353.1_Missense_Mutation_p.E297D|ZNF619_ENST00000314686.5_Missense_Mutation_p.E241D|ZNF619_ENST00000456778.1_Missense_Mutation_p.E213D	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	20	43	0	48	297					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACACTGGAGAGAAACCATACT	0.443000													1	1	1	1	1	1	0.999999	20	45	0	49	1	4.955298e-01	2	3	0	49	5
ZNF620	253639	broad.mit.edu	37	3	40558152	40558152	+	Missense_Mutation	SNP	G	G	A	rs149375136		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:40558152G>A	ENST00000314529.6	+	5	1216	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	ZNF620_ENST00000418905.1_Missense_Mutation_p.R242Q	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	28	49	0	63	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGCATCAGCGAATTCACACT	0.473000													1	1	1	1	1	1	1.000000	29	54	0	66	1	9.922276e-01	9	9	0	66	5
ZNF621	285268	broad.mit.edu	37	3	40574146	40574146	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:40574146G>A	ENST00000339296.5	+	5	1337	c.885G>A	c.(883-885)gaG>gaA	p.E295E	ZNF621_ENST00000431278.1_Silent_p.E184E|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000403205.2_Silent_p.E295E|ZNF621_ENST00000310898.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	20	45	0	49	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AATGTAAGGAGTGTGGCAAAG	0.423000													1	1	1	1	1	1	1.000000	22	49	0	55	0	0	0	1	0	55	5
CCDC13	152206	broad.mit.edu	37	3	42799615	42799615	+	Splice_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:42799615A>C	ENST00000310232.6	-	2	305		c.e2+1		CCDC13_ENST00000435327.2_Splice_Site	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	21	39	0	57											endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ACTTGCATTTACCTCTTCTCA	0.483000													1	1	1	1	0	1	1.000000	21	42	0	65	1	1.179487e-01	2	0	0	65	4
CYP8B1	1582	broad.mit.edu	37	3	42916604	42916604	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:42916604G>T	ENST00000316161.4	-	1	1029	c.705C>A	c.(703-705)ctC>ctA	p.L235L	CYP8B1_ENST00000437102.1_Silent_p.L235L|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	26	40	0	49	235					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			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TCTTGTGAAAGAGACGCTGGA	0.562000													1	1	0	1	1	1	1.000000	26	41	0	51	0	0	0	0	0	51	4
SNRK	54861	broad.mit.edu	37	3	43344729	43344729	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:43344729A>C	ENST00000296088.7	+	3	338	c.34A>C	c.(34-36)Att>Ctt	p.I12L	SNRK_ENST00000429705.2_Missense_Mutation_p.I12L|SNRK_ENST00000454177.1_Missense_Mutation_p.I12L|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000437827.1_Intron	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	9	63	0	67	12					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TGATGGAAAGATTGCTGGATT	0.398000													1	1	1	1	1	1	0.995109	9	72	0	76	1	1.614624e-01	2	4	0	76	5
ZNF445	353274	broad.mit.edu	37	3	44489458	44489458	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44489458G>T	ENST00000425708.2	-	7	2046	c.1705C>A	c.(1705-1707)Ctt>Att	p.L569I	ZNF445_ENST00000396077.2_Missense_Mutation_p.L569I			P59923	ZN445_HUMAN	zinc finger protein 445	32	65	0	102	569					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TTCAATTCAAGAAATTTCTTC	0.468000													1	1	1	1	1	1	1.000000	35	73	0	107	1	2.493679e-01	2	1	0	107	5
ZNF445	353274	broad.mit.edu	37	3	44489996	44489996	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44489996T>G	ENST00000425708.2	-	7	1508	c.1167A>C	c.(1165-1167)gaA>gaC	p.E389D	ZNF445_ENST00000396077.2_Missense_Mutation_p.E389D			P59923	ZN445_HUMAN	zinc finger protein 445	29	53	0	92	389					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E389D(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TTCCTGATACTTCAGAGTCTT	0.378000													1	1	1	1	1	1	1.000000	32	56	0	99	0	3.067527e-01	1	2	0	99	5
ZNF197	10168	broad.mit.edu	37	3	44684747	44684747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44684747C>T	ENST00000396058.1	+	5	2292	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Nonsense_Mutation_p.R709*			O14709	ZN197_HUMAN	zinc finger protein 197	41	54	0	72	709					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ATATGAATGTCGAGAGTGTGG	0.413000													1	1	1	1	1	1	1.000000	44	55	0	75	1	9.261312e-01	2	5	0	75	5
ZNF197	10168	broad.mit.edu	37	3	44685303	44685303	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44685303G>T	ENST00000396058.1	+	5	2848	c.2681G>T	c.(2680-2682)aGa>aTa	p.R894I	ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.R894I			O14709	ZN197_HUMAN	zinc finger protein 197	36	62	0	81	894					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GTACATCAAAGAATCCATACT	0.358000													1	1	1	1	1	1	1.000000	39	68	0	89	1	9.923246e-01	10	7	0	89	5
TGM4	7047	broad.mit.edu	37	3	44948523	44948523	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44948523C>A	ENST00000296125.4	+	10	1226	c.1158C>A	c.(1156-1158)ttC>ttA	p.F386L		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	47	69	0	124	386					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GATTCGTCTTCTCAGAAGTGA	0.507000													1	1	1	1	1	1	1.000000	48	70	0	128	0	0	0	0	0	128	5
TGM4	7047	broad.mit.edu	37	3	44955154	44955154	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44955154C>A	ENST00000296125.4	+	14	2060	c.1992C>A	c.(1990-1992)gtC>gtA	p.V664V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	8	63	0	85	664					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AATTTATCGTCAAGTTAAGTT	0.413000											OREG0015520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.990688	8	68	0	90	0	0	0	1	0	90	5
ZDHHC3	51304	broad.mit.edu	37	3	44986746	44986746	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:44986746G>A	ENST00000296127.3	-	3	618	c.345C>T	c.(343-345)atC>atT	p.I115I	ZDHHC3_ENST00000424952.2_Silent_p.I115I|ZDHHC3_ENST00000342790.4_Silent_p.I149I	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	53	79	0	140	115						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GTAAACTCTCGATGAATTCTT	0.527000													1	1	1	1	1	1	1.000000	57	87	0	153	1	1	46	85	0	153	5
LARS2	23395	broad.mit.edu	37	3	45537860	45537860	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:45537860A>G	ENST00000415258.1	+	13	1758	c.1617A>G	c.(1615-1617)ccA>ccG	p.P539P	LARS2_ENST00000414984.1_Silent_p.P496P|LARS2_ENST00000265537.3_Silent_p.P539P|LARS2-AS1_ENST00000442534.2_RNA			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	49	115	0	164	539					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CTCATAATCCACACAGGTAAA	0.448000													1	1	1	1	1	1	1.000000	53	117	0	190	1	9.999017e-01	16	19	0	190	5
SACM1L	22908	broad.mit.edu	37	3	45763501	45763501	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:45763501C>T	ENST00000389061.5	+	9	893	c.689C>T	c.(688-690)tCg>tTg	p.S230L	SACM1L_ENST00000541314.1_Missense_Mutation_p.S169L|SACM1L_ENST00000418611.1_Missense_Mutation_p.S127L	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	14	18	0	29	230	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GGAATTGATTCGGAAGGCCAT	0.353000													1	1	1	1	1	1	0.999943	14	19	0	29	1	9.965637e-01	7	11	0	29	5
SLC6A20	54716	broad.mit.edu	37	3	45817310	45817310	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:45817310G>A	ENST00000358525.4	-	4	640	c.525C>T	c.(523-525)ctC>ctT	p.L175L	SLC6A20_ENST00000456124.2_Silent_p.L175L|SLC6A20_ENST00000353278.4_Silent_p.L175L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	45	47	0	99	175					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			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GCCAGGCCAGGAGGAGGCACA	0.637000													1	1	1	1	1	1	1.000000	47	48	0	104	1	9.993326e-01	6	10	0	104	5
CCR3	1232	broad.mit.edu	37	3	46307386	46307386	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46307386C>T	ENST00000357422.2	+	4	1280	c.737C>T	c.(736-738)gCg>gTg	p.A246V	CCR3_ENST00000541018.1_Missense_Mutation_p.A246V|CCR3_ENST00000395942.2_Missense_Mutation_p.A246V|CCR3_ENST00000395940.2_Missense_Mutation_p.A246V|CCR3_ENST00000545097.1_Missense_Mutation_p.A267V			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	18	31	0	61	246					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				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GTCATCATGGCGGTGTTTTTC	0.453000													1	1	1	1	1	1	0.999998	19	42	0	64	0	0	0	0	0	64	5
CCR5	1234	broad.mit.edu	37	3	46415317	46415317	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46415317C>A	ENST00000343801.4	+	3	1281	c.924C>A	c.(922-924)ctC>ctA	p.L308L	CCR5_ENST00000445772.1_Silent_p.L308L|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Silent_p.L308L	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	51	83	0	166	308					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			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GAAACTACCTCTTAGTCTTCT	0.493000													1	1	1	1	1	1	1.000000	52	86	0	180	0	7.266257e-01	0	5	0	180	5
LTF	4057	broad.mit.edu	37	3	46497452	46497452	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46497452A>C	ENST00000231751.4	-	4	628	c.333T>G	c.(331-333)taT>taG	p.Y111*	LTF_ENST00000426532.2_Nonsense_Mutation_p.Y67*|LTF_ENST00000417439.1_Nonsense_Mutation_p.Y111*	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	9	25	0	31	111	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			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				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)	CCACGGCATAATAGTGAGTTC	0.537000													1	1	1	1	1	1	0.998130	10	29	0	35	0	7.665505e-02	1	1	0	35	5
PRSS42	339906	broad.mit.edu	37	3	46874577	46874577	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:46874577C>T	ENST00000447340.1	-	2	232	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	PRSS42_ENST00000429665.1_Missense_Mutation_p.R164Q			Q7Z5A4	PRS42_HUMAN	protease, serine, 42	26	39	0	51	164					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						AAGGTCATTTCGAATGGTTGT	0.458000													1	1	1	1	1	1	1.000000	29	40	0	55	0	0	0	0	0	55	5
SETD2	29072	broad.mit.edu	37	3	47103827	47103827	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:47103827C>T	ENST00000409792.3	-	14	6161	c.6119G>A	c.(6118-6120)cGa>cAa	p.R2040Q	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	58	116	0	177	2040					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		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)		ATCCCTTCCTCGTTCAGTTGC	0.393000			N, F, S, Mis		clear cell renal carcinoma								1	1	1	1	1	1	1.000000	60	122	0	190	1	9.999995e-01	27	23	0	190	5
SCAP	22937	broad.mit.edu	37	3	47456433	47456433	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:47456433C>T	ENST00000265565.5	-	20	3602	c.3190G>A	c.(3190-3192)Gac>Aac	p.D1064N	SCAP_ENST00000545718.1_Missense_Mutation_p.D671N|SCAP_ENST00000441517.2_Missense_Mutation_p.D808N	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	4	68	0	67	1064	Interaction with SREBF2 (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			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GCCACTGTGTCGCTGCTGCTG	0.597000													0	0	1	0	0	1	0.892251	4	71	0	71	1	9.816142e-01	2	144	0	71	1
CSPG5	10675	broad.mit.edu	37	3	47618877	47618877	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:47618877G>A	ENST00000383738.2	-	2	2737	c.639C>T	c.(637-639)ttC>ttT	p.F213F	CSPG5_ENST00000456150.1_Silent_p.F75F|CSPG5_ENST00000264723.4_Silent_p.F213F	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	14	39	0	54	213					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			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCAGTCCTTCGAAGTAGTCGA	0.592000													1	1	1	1	1	1	0.999880	14	44	0	55	1	6.183645e-01	5	3	0	55	5
ZNF589	51385	broad.mit.edu	37	3	48310236	48310236	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48310236G>T	ENST00000354698.3	+	4	1127	c.1055G>T	c.(1054-1056)aGa>aTa	p.R352I	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000440261.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	25	81	0	138	352					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGCACCAGAGAATTCACACG	0.478000													1	1	1	1	1	1	1.000000	27	85	0	155	1	9.003262e-01	8	7	0	155	5
ATRIP	84126	broad.mit.edu	37	3	48502155	48502155	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48502155T>G	ENST00000412052.1	+	8	1885	c.1423T>G	c.(1423-1425)Ttg>Gtg	p.L475V	ATRIP_ENST00000357105.6_Missense_Mutation_p.L441V|ATRIP_ENST00000346691.4_Missense_Mutation_p.L568V|ATRIP_ENST00000320211.3_Missense_Mutation_p.L568V	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	22	52	0	69	568					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTTAAGGTTTTGGTGAAATT	0.473000								Other conserved DNA damage response genes					1	1	1	1	1	1	1.000000	25	54	0	77	1	8.659534e-01	3	7	0	77	5
COL7A1	1294	broad.mit.edu	37	3	48630293	48630293	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48630293G>A	ENST00000328333.8	-	6	868	c.761C>T	c.(760-762)gCg>gTg	p.A254V	COL7A1_ENST00000454817.1_Missense_Mutation_p.A254V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	14	22	0	53	254	Fibronectin type-III 1.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCACTGGCCGCTGTCCACTG	0.617000													1	1	1	1	1	1	0.999927	14	24	0	54	1	9.997893e-01	14	19	0	54	5
COL7A1	1294	broad.mit.edu	37	3	48630635	48630635	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48630635G>T	ENST00000328333.8	-	5	689	c.582C>A	c.(580-582)ttC>ttA	p.F194L	COL7A1_ENST00000454817.1_Missense_Mutation_p.F194L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	9	66	0	66	194	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAAGAAGAAGAAGTCACTGG	0.567000													1	1	1	1	1	1	0.997507	10	69	0	69	1	9.545329e-01	7	33	0	69	5
CELSR3	1951	broad.mit.edu	37	3	48699046	48699046	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:48699046C>T	ENST00000544264.1	-	1	1302	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	CELSR3_ENST00000164024.4_Missense_Mutation_p.G341D			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	40	75	0	145	341	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			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACCGCGGTGCCTGCTGCCTC	0.682000													1	1	1	1	1	1	1.000000	47	80	0	157	0	0	1	0	0	157	5
LAMB2	3913	broad.mit.edu	37	3	49160170	49160170	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:49160170C>A	ENST00000418109.1	-	28	4704	c.4540G>T	c.(4540-4542)Gaa>Taa	p.E1514*	LAMB2_ENST00000305544.4_Nonsense_Mutation_p.E1514*	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	9	122	0	133	1514	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGATAAGTTCTTGAAGTTCC	0.597000													1	1	1	1	0	1	0.997208	10	134	0	148	1	9.993241e-01	3	183	0	148	4
DAG1	1605	broad.mit.edu	37	3	49570157	49570157	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:49570157A>C	ENST00000545947.1	+	6	2935	c.2213A>C	c.(2212-2214)gAc>gCc	p.D738A	DAG1_ENST00000308775.2_Missense_Mutation_p.D738A|DAG1_ENST00000539901.1_Missense_Mutation_p.D738A|DAG1_ENST00000541308.1_Missense_Mutation_p.D738A|DAG1_ENST00000515359.2_Missense_Mutation_p.D738A|DAG1_ENST00000538711.1_Missense_Mutation_p.D738A	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	25	54	0	77	738					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			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GAAGTGCCTGACAGGGACCCT	0.592000													1	1	1	1	1	1	1.000000	28	60	0	90	1	1	55	64	0	90	5
MON1A	84315	broad.mit.edu	37	3	49946481	49946481	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:49946481T>C	ENST00000417270.1	-	7	2351	c.1658A>G	c.(1657-1659)gAc>gGc	p.D553G	CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.D642G|MON1A_ENST00000455683.2_Missense_Mutation_p.D480G			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	16	21	0	41	545							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAAGAGGCGGTCTTCCTCTTT	0.582000													1	1	1	1	1	1	0.999994	17	24	0	47	1	9.994836e-01	10	14	0	47	5
ZMYND10	51364	broad.mit.edu	37	3	50382591	50382591	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:50382591G>A	ENST00000231749.3	-	2	1437	c.165C>T	c.(163-165)ggC>ggT	p.G55G	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Silent_p.G55G	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	7	18	0	21	55						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAATGGGCTCGCCCTGGCTGA	0.602000										TSP Lung(30;0.18)			1	1	1	1	1	1	0.985354	7	22	0	24	0	8.642348e-01	0	14	0	24	5
DOCK3	1795	broad.mit.edu	37	3	51413217	51413217	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51413217C>T	ENST00000266037.9	+	51	5474	c.5451C>T	c.(5449-5451)gtC>gtT	p.V1817V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	28	62	0	126	1817						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.V1817V(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGCAAGTGGTCGGAGCCTGCA	0.517000													1	1	1	1	1	1	1.000000	32	75	0	150	0	0	0	0	0	150	5
VPRBP	9730	broad.mit.edu	37	3	51500889	51500889	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51500889C>T	ENST00000335891.5	-	3	200	c.191G>A	c.(190-192)cGa>cAa	p.R64Q				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	20	21	0	69	64					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGATCAGCTCGACCTACCAA	0.453000													1	1	1	1	1	1	1.000000	20	23	0	74	1	7.551870e-01	3	2	0	74	5
VPRBP	9730	broad.mit.edu	37	3	51517794	51517794	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51517794C>T	ENST00000335891.5	-	1	60	c.51G>A	c.(49-51)ctG>ctA	p.L17L				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	34	59	1	108	17					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ACTGCTCCAGCAGGGTAGTGA	0.393000													1	0	1	1	1	1	1.000000	38	76	2	138	1	9.555262e-01	8	5	2	138	4
GRM2	2912	broad.mit.edu	37	3	51749334	51749334	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51749334C>T	ENST00000395052.3	+	4	1779	c.1545C>T	c.(1543-1545)ggC>ggT	p.G515G	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	15	20	0	52	515					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				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)	TGCAGCCGGGCGAAGTCTGCT	0.632000													1	1	1	1	1	1	0.999988	16	22	0	56	0	0	0	0	0	56	5
IQCF1	132141	broad.mit.edu	37	3	51928930	51928930	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:51928930A>G	ENST00000310914.5	-	4	656	c.594T>C	c.(592-594)tgT>tgC	p.C198C		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	33	55	0	82	198										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAAGGGAATACACTCTGTCA	0.498000													1	1	1	1	1	1	1.000000	35	57	0	89	0	0	0	0	0	89	5
PPM1M	132160	broad.mit.edu	37	3	52283790	52283790	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52283790T>G	ENST00000323588.4	+	10	1222	c.857T>G	c.(856-858)aTt>aGt	p.I286S	PPM1M_ENST00000296487.4_3'UTR|PPM1M_ENST00000409502.3_Missense_Mutation_p.I235S|PPM1M_ENST00000457351.2_Missense_Mutation_p.I447S			Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1M	7	39	0	36	0					protein dephosphorylation	nucleus	CTD phosphatase activity|manganese ion binding			prostate(1)|urinary_tract(1)	2				BRCA - Breast invasive adenocarcinoma(193;2.4e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)		GTGTTCGTGATTCCCTTGCAC	0.552000													1	1	1	1	1	1	0.983416	7	41	0	38	1	9.170189e-01	3	26	0	38	5
BAP1	8314	broad.mit.edu	37	3	52436330	52436330	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52436330G>A	ENST00000460680.1	-	17	2635	c.2164C>T	c.(2164-2166)Cgc>Tgc	p.R722C	BAP1_ENST00000296288.5_Missense_Mutation_p.R704C	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	5	14	0	13	722					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			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				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)		TTGTAGGGGCGAGAGCGTTTC	0.672000			N, Mis, F, S, O		uveal melanoma, breast, NSCLC, RCC	mesothelioma, uveal melanoma							0	0	0	0	1	1	0.945274	5	18	0	16	1	9.999336e-01	58	65	0	16	1
SEMA3G	56920	broad.mit.edu	37	3	52469702	52469702	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52469702C>T	ENST00000231721.2	-	16	2265	c.2266G>A	c.(2266-2268)Gca>Aca	p.A756T		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	9	118	0	190	756					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				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)		TCCAGCCCTGCCCAGCTCTTG	0.672000													1	1	1	1	0	1	0.999248	12	133	0	212	0	0	0	1	0	212	4
STAB1	23166	broad.mit.edu	37	3	52553522	52553522	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52553522G>T	ENST00000321725.6	+	50	5253	c.5175_splice	c.e50-1	p.R1726_splice		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	8	88	0	86	1726	FAS1 6.				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			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				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)		TTTCCTCAGAGAAATGTCACC	0.602000													1	1	1	1	0	1	0.994907	9	94	0	95	0	3.177938e-01	0	12	0	95	4
PBRM1	55193	broad.mit.edu	37	3	52610695	52610695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52610695G>A	ENST00000356770.4	-	21	3459	c.3457C>T	c.(3457-3459)Cga>Tga	p.R1153*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1185*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R1160*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1185*|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1200*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R1160*			Q86U86	PB1_HUMAN	polybromo 1	9	25	0	38	1185					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.R1185*(3)|p.R1153*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				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)		GCTCCATCTCGAACCCATACT	0.338000			Mis, N, F, S, D, O		clear cell renal carcinoma, breast								1	1	1	1	1	1	0.998225	10	26	0	38	0	8.906883e-02	0	2	0	38	5
PBRM1	55193	broad.mit.edu	37	3	52643768	52643768	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:52643768G>A	ENST00000356770.4	-	15	2034	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R725*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R710*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R710*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R725*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R710*			Q86U86	PB1_HUMAN	polybromo 1	24	70	0	92	710	Bromo 5.		R -> C.		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.R710*(2)|p.R678*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				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)		ATGTGACTTCGAATTTTTTCC	0.438000			Mis, N, F, S, D, O		clear cell renal carcinoma, breast								1	1	1	1	1	1	1.000000	25	77	0	95	0	0	1	0	0	95	5
CACNA1D	776	broad.mit.edu	37	3	53764549	53764549	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:53764549G>T	ENST00000288139.3	+	17	2480	c.2362G>T	c.(2362-2364)Gaa>Taa	p.E788*	CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.E768*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.E768*	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	15	39	0	56	768					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				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)	TCAGAAAGAAGAAGCGGAAGA	0.453000													1	1	1	1	1	1	0.999945	15	43	0	63	0	0	0	0	0	63	5
CACNA1D	776	broad.mit.edu	37	3	53783418	53783418	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:53783418C>A	ENST00000288139.3	+	28	3616	c.3498C>A	c.(3496-3498)atC>atA	p.I1166I	CACNA1D_ENST00000422281.2_Silent_p.I1146I|CACNA1D_ENST00000350061.5_Silent_p.I1146I|CACNA1D_ENST00000540742.1_Silent_p.I53I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	12	65	0	81	1146					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				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)	TGATGAACATCTTTGTGGGCT	0.413000													1	1	1	1	1	1	0.999368	12	68	0	90	0	7.067294e-02	1	2	0	90	5
ACTR8	93973	broad.mit.edu	37	3	53904164	53904164	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:53904164C>T	ENST00000335754.3	-	12	1676	c.1576G>A	c.(1576-1578)Gac>Aac	p.D526N	ACTR8_ENST00000488802.1_5'UTR|ACTR8_ENST00000482349.1_Missense_Mutation_p.D415N|ACTR8_ENST00000231909.7_Missense_Mutation_p.D231N	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	20	47	0	73	526					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				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)		TTTTTGGTGTCGTCAGATGCT	0.428000													1	1	1	1	1	1	0.999999	21	54	0	84	1	9.999657e-01	17	33	0	84	5
CACNA2D3	55799	broad.mit.edu	37	3	54604114	54604114	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:54604114T>G	ENST00000474759.1	+	8	919	c.871T>G	c.(871-873)Ttc>Gtc	p.F291V	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.F291V|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.F197V|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.F291V	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	10	101	0	127	291	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GGATGATGACTTCTTCAACAT	0.443000													1	0	1	1	0	1	0.998576	11	117	0	149	0	0	0	0	0	149	3
CACNA2D3	55799	broad.mit.edu	37	3	54676264	54676264	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:54676264G>A	ENST00000474759.1	+	11	1211	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R388Q|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R294Q|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R388Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	4	8	0	21	388	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TGGCCAGATCGAAAGGTAAGT	0.463000													0	0	1	1	0	1	0.903106	4	8	0	23	0	0	0	0	0	23	2
ERC2	26059	broad.mit.edu	37	3	56468777	56468777	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:56468777T>G	ENST00000288221.6	-	2	514	c.259A>C	c.(259-261)Aat>Cat	p.N87H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	50	107	0	170	87						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ACAGCTCGATTTGTAGCCCTT	0.502000													1	1	1	1	1	1	1.000000	51	109	0	179	0	1.043702e-01	1	1	0	179	5
ERC2	26059	broad.mit.edu	37	3	56468995	56468995	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:56468995C>T	ENST00000288221.6	-	2	296	c.41G>A	c.(40-42)aGc>aAc	p.S14N		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	7	33	0	43	14						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCTGGAAGGGCTACCTTCCAG	0.463000													1	1	1	1	1	1	0.983613	7	38	0	46	0	0	1	0	0	46	5
FAM208A	23272	broad.mit.edu	37	3	56680718	56680718	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:56680718C>A	ENST00000431842.2	-	7	1783	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	FAM208A_ENST00000355628.5_Nonsense_Mutation_p.E683*|FAM208A_ENST00000493960.2_Nonsense_Mutation_p.E683*	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	11	24	0	47	683								p.E287*(1)|p.E683*(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TTAATCAATTCTTTGACTCTA	0.358000													1	1	1	1	1	1	0.999615	12	26	0	50	0	7.656509e-01	1	7	0	50	5
FAM3D	131177	broad.mit.edu	37	3	58639451	58639451	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:58639451C>T	ENST00000358781.2	-	3	381	c.71G>A	c.(70-72)cGa>cAa	p.R24Q		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	36	84	0	148	24					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				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)		CATGTAGCTTCGAATAAACAT	0.587000													1	1	1	1	1	1	1.000000	38	92	0	157	0	0	0	1	0	157	5
CADPS	8618	broad.mit.edu	37	3	62423848	62423848	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:62423848G>A	ENST00000383710.4	-	28	4057	c.3708C>T	c.(3706-3708)ttC>ttT	p.F1236F	CADPS_ENST00000357948.3_Silent_p.F1157F|CADPS_ENST00000283269.9_Silent_p.F1197F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	25	40	0	78	1236	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		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)		AATGGCGGACGAAAGTCACGT	0.448000													1	1	1	1	1	1	1.000000	26	50	0	91	0	0	0	0	0	91	5
CADPS	8618	broad.mit.edu	37	3	62477118	62477118	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:62477118T>G	ENST00000383710.4	-	21	3271	c.2922A>C	c.(2920-2922)caA>caC	p.Q974H	CADPS_ENST00000357948.3_Missense_Mutation_p.Q944H|CADPS_ENST00000283269.9_Missense_Mutation_p.Q984H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	14	83	0	100	974	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		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)		CAAACAGGTCTTGCAGGTGTT	0.428000													1	1	1	1	1	1	0.999914	15	90	0	106	0	2.353756e-02	0	2	0	106	5
CADPS	8618	broad.mit.edu	37	3	62535683	62535683	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:62535683G>A	ENST00000383710.4	-	11	2210	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	CADPS_ENST00000357948.3_Missense_Mutation_p.R621W|CADPS_ENST00000283269.9_Missense_Mutation_p.R621W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	40	76	0	161	621	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		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)		CCCGTGGCCCGATACATGGCC	0.577000													1	1	1	1	1	1	1.000000	46	83	0	175	0	0	0	0	0	175	5
PRICKLE2	166336	broad.mit.edu	37	3	64084736	64084736	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:64084736G>T	ENST00000295902.6	-	8	3111	c.2526C>A	c.(2524-2526)atC>atA	p.I842I	PRICKLE2_ENST00000564377.1_Silent_p.I898I|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	18	59	0	99	842						cytoplasm|nuclear membrane	zinc ion binding	p.I842I(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		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)		ATTAAGAAATGATACAGTTTT	0.433000													1	1	1	1	0	1	0.999998	20	65	0	115	0	6.034483e-02	1	1	0	115	4
PRICKLE2	166336	broad.mit.edu	37	3	64085004	64085004	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:64085004G>A	ENST00000295902.6	-	8	2843	c.2258C>T	c.(2257-2259)tCg>tTg	p.S753L	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S809L|RP11-129B22.1_ENST00000482609.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	26	24	0	79	753						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		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)		AGCCAGGTCCGACACAGTCCT	0.592000													1	1	1	1	0	1	1.000000	26	24	0	82	1	8.241852e-01	3	2	0	82	4
LRIG1	26018	broad.mit.edu	37	3	66434631	66434631	+	Missense_Mutation	SNP	C	C	T	rs140303911		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:66434631C>T	ENST00000383703.3	-	15	2530	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.E619K|SLC25A26_ENST00000536651.1_Intron			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	48	100	0	259	619	Ig-like C2-type 2.					integral to membrane		p.E619K(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCAGCACATTCGAGGCGGGCC	0.582000													1	1	1	1	1	1	1.000000	66	161	0	288	1	9.999997e-01	29	30	0	288	5
FAM19A4	151647	broad.mit.edu	37	3	68929922	68929922	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:68929922T>G	ENST00000295569.7	-	3	581	c.89A>C	c.(88-90)aAg>aCg	p.K30T		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	25	58	0	88	30						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		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)		GGACATCAGCTTACAGCACAC	0.507000													1	1	1	1	1	1	1.000000	29	67	0	107	0	0	0	0	0	107	5
FOXP1	27086	broad.mit.edu	37	3	71008510	71008510	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:71008510T>C	ENST00000318789.4	-	21	2447	c.1922A>G	c.(1921-1923)gAt>gGt	p.D641G	FOXP1_ENST00000491238.1_Missense_Mutation_p.D643G|FOXP1_ENST00000468577.1_Missense_Mutation_p.D577G|FOXP1_ENST00000484350.1_Missense_Mutation_p.D565G|FOXP1_ENST00000475937.1_Missense_Mutation_p.D641G|FOXP1_ENST00000493089.1_Missense_Mutation_p.D640G|FOXP1_ENST00000498215.1_Missense_Mutation_p.D641G	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	21	45	0	69	641					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			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		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)		TTCCTCTGGATCGAGGGGCTC	0.498000			T	PAX5	ALL								1	1	1	1	1	1	1.000000	22	46	0	72	1	9.937333e-01	7	14	0	72	5
FOXP1	27086	broad.mit.edu	37	3	71021810	71021810	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:71021810A>C	ENST00000318789.4	-	18	2073	c.1548T>G	c.(1546-1548)aaT>aaG	p.N516K	FOXP1_ENST00000491238.1_Missense_Mutation_p.N518K|FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000484350.1_Missense_Mutation_p.N440K|FOXP1_ENST00000475937.1_Missense_Mutation_p.N516K|FOXP1_ENST00000493089.1_Missense_Mutation_p.N515K|FOXP1_ENST00000498215.1_Missense_Mutation_p.N516K	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	15	22	0	49	516					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			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		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)		GAAGACTAAGATTATGACGCA	0.378000			T	PAX5	ALL								0	0	1	0	0	1	0.999968	15	24	0	49	1	9.719640e-01	6	7	0	49	1
PPP4R2	151987	broad.mit.edu	37	3	73114163	73114163	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:73114163G>A	ENST00000356692.5	+	8	1052	c.799G>A	c.(799-801)Gaa>Aaa	p.E267K	PPP4R2_ENST00000295862.9_Missense_Mutation_p.E211K|PPP4R2_ENST00000394284.3_Missense_Mutation_p.E210K			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	16	41	0	76	267					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			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		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)		GACTTCCAGCGAAATTTCTTC	0.448000													1	1	1	1	1	1	0.999988	17	44	0	83	1	9.999933e-01	34	30	0	83	5
ROBO2	6092	broad.mit.edu	37	3	77645854	77645854	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:77645854A>G	ENST00000461745.1	+	19	3707	c.2807A>G	c.(2806-2808)aAt>aGt	p.N936S	ROBO2_ENST00000332191.8_Missense_Mutation_p.N936S|ROBO2_ENST00000487694.3_Missense_Mutation_p.N952S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	38	59	0	97	936					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			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				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)		TTGCCAGTAAATAATAGCAAC	0.418000													1	1	1	1	1	1	1.000000	40	67	0	103	1	9.288069e-01	3	7	0	103	5
EPHA3	2042	broad.mit.edu	37	3	89259557	89259557	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:89259557C>A	ENST00000336596.2	+	3	926	c.701C>A	c.(700-702)tCt>tAt	p.S234Y	EPHA3_ENST00000494014.1_Missense_Mutation_p.S234Y|EPHA3_ENST00000452448.2_Missense_Mutation_p.S234Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	33	139	0	202	234	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding	p.S234Y(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	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)		GTCAACAATTCTAAGGAGGAA	0.488000										TSP Lung(6;0.00050)			1	1	1	1	1	1	1.000000	35	142	0	223	1	1.841900e-01	2	2	0	223	5
EPHA3	2042	broad.mit.edu	37	3	89478270	89478270	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:89478270A>C	ENST00000336596.2	+	12	2314	c.2089A>C	c.(2089-2091)Att>Ctt	p.I697L	EPHA3_ENST00000494014.1_Missense_Mutation_p.I697L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	15	34	0	59	697	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	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)		GCCAGTTATGATTGTCACAGA	0.289000										TSP Lung(6;0.00050)			1	1	1	1	1	1	0.999995	18	39	0	65	0	2.481245e-01	1	2	0	65	5
EPHA3	2042	broad.mit.edu	37	3	89480399	89480399	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:89480399G>T	ENST00000336596.2	+	13	2461	c.2236G>T	c.(2236-2238)Gac>Tac	p.D746Y	EPHA3_ENST00000494014.1_Missense_Mutation_p.D746Y	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	19	31	0	60	746	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	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)		TGTTCACCGAGACCTCGCTGC	0.498000										TSP Lung(6;0.00050)			1	1	1	1	1	1	1.000000	22	31	0	63	1	6.841490e-01	2	3	0	63	5
PROS1	5627	broad.mit.edu	37	3	93605179	93605179	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:93605179C>T	ENST00000394236.3	-	11	1640		c.e11+1		PROS1_ENST00000407433.1_Splice_Site	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	12	40	0	61						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			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TGGATCATTACCGGTTTAATG	0.373000													1	1	1	1	1	1	0.999472	12	44	0	64	0	9.999813e-01	0	89	0	64	5
PROS1	5627	broad.mit.edu	37	3	93617309	93617309	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:93617309C>A	ENST00000394236.3	-	8	1148	c.832G>T	c.(832-834)Gat>Tat	p.D278Y	PROS1_ENST00000407433.1_Missense_Mutation_p.D147Y	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	24	36	0	56	278	EGF-like 4; calcium-binding (Potential).				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			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CTCTTCTGATCTTGGGCAAGT	0.383000													1	1	1	1	1	1	1.000000	25	39	0	59	1	9.997188e-01	12	14	0	59	5
STX19	415117	broad.mit.edu	37	3	93733669	93733669	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:93733669A>G	ENST00000315099.2	-	2	701	c.445T>C	c.(445-447)Ttt>Ctt	p.F149L	ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000303097.7_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	6	99	0	102	149					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TTGTATATAAACATGATTTGC	0.378000													1	1	1	1	0	1	0.966325	6	106	0	107	1	1.927934e-01	6	7	0	107	4
EPHA6	285220	broad.mit.edu	37	3	97198185	97198185	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:97198185G>T	ENST00000389672.5	+	9	2089	c.2051G>T	c.(2050-2052)aGa>aTa	p.R684I	EPHA6_ENST00000502694.1_Missense_Mutation_p.R76I|EPHA6_ENST00000514100.1_Missense_Mutation_p.R76I|EPHA6_ENST00000442602.2_Missense_Mutation_p.R50I	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	3	13	0	28	589	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAGAAGAGAAGAAACCACTTA	0.333000													1	0	1	1	1	1	0.897050	4	17	0	32	0	1.326087e-01	1	2	0	32	4
CRYBG3	131544	broad.mit.edu	37	3	97618005	97618005	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:97618005C>A	ENST00000182096.4	+	11	2089	c.2025C>A	c.(2023-2025)ttC>ttA	p.F675L		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3	20	28	0	52											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AGCAAAAGTTCTTCTGTGGAG	0.333000													1	1	1	1	1	1	0.999999	20	29	0	52	1	9.871641e-01	8	6	0	52	5
CRYBG3	131544	broad.mit.edu	37	3	97655650	97655650	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:97655650C>A	ENST00000182096.4	+	16	2623	c.2559C>A	c.(2557-2559)tcC>tcA	p.S853S	CRYBG3_ENST00000389622.2_Silent_p.S60S|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3	14	18	0	46											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ATGAAGGATCCAATTTCTTGG	0.393000													1	1	1	1	1	1	0.999990	16	19	0	48	1	9.895413e-01	5	7	0	48	5
OR5K1	26339	broad.mit.edu	37	3	98188675	98188675	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:98188675C>A	ENST00000332650.5	+	1	352	c.255C>A	c.(253-255)ttC>ttA	p.F85L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	58	117	0	171	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TAGAGAACTTCTTTTCTGAGA	0.433000													1	1	1	1	1	1	1.000000	59	127	0	168	0	0	0	0	0	168	5
OR5K1	26339	broad.mit.edu	37	3	98188696	98188696	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:98188696T>G	ENST00000332650.5	+	1	373	c.276T>G	c.(274-276)atT>atG	p.I92M		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	65	109	0	161	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAAAAGGATTTCCCTCTATG	0.433000													1	1	1	1	1	1	1.000000	72	114	0	161	0	0	0	0	0	161	5
GPR15	2838	broad.mit.edu	37	3	98251633	98251633	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:98251633C>A	ENST00000284311.3	+	1	891	c.756C>A	c.(754-756)gtC>gtA	p.V252V		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	26	53	0	68	252						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CCTTTCTTGTCTCCTGGCTGC	0.453000													1	1	1	1	1	1	1.000000	26	53	0	71	0	0	0	0	0	71	5
IMPG2	50939	broad.mit.edu	37	3	100947714	100947714	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:100947714G>T	ENST00000193391.7	-	18	3827	c.3640C>A	c.(3640-3642)Caa>Aaa	p.Q1214K		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	12	23	0	46	1214	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			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATTCTCTCTTGAATTTCCTTA	0.383000													1	1	1	1	0	1	0.999615	12	26	0	49	0	0	0	0	0	49	4
IMPG2	50939	broad.mit.edu	37	3	101038599	101038599	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101038599C>A	ENST00000193391.7	-	2	350	c.163G>T	c.(163-165)Gac>Tac	p.D55Y		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	7	83	0	87	55					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGAGAAAGGTCTGTTGATTCT	0.423000													1	0	1	1	0	1	0.990417	8	86	0	92	0	0	0	0	0	92	3
SENP7	57337	broad.mit.edu	37	3	101086730	101086730	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101086730T>G	ENST00000394095.2	-	8	975	c.922A>C	c.(922-924)Aat>Cat	p.N308H	SENP7_ENST00000358203.3_Missense_Mutation_p.N144H|SENP7_ENST00000348610.3_Missense_Mutation_p.N275H|SENP7_ENST00000394091.1_Missense_Mutation_p.N144H|SENP7_ENST00000394094.2_Missense_Mutation_p.N243H|SENP7_ENST00000314261.7_Missense_Mutation_p.N242H	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	35	43	0	50	308					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTAAATTATTTCTAAGCCTT	0.328000													1	1	1	1	1	1	1.000000	42	47	0	55	0	0	0	1	0	55	5
TRMT10C	54931	broad.mit.edu	37	3	101284157	101284157	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101284157C>A	ENST00000309922.6	+	2	686	c.532C>A	c.(532-534)Cta>Ata	p.L178I		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)	15	35	0	79																		GAAAAACTTTCTATTTTTACG	0.408000													1	1	1	1	1	1	0.999948	15	40	0	83	1	9.999988e-01	44	40	0	83	5
ZBTB11	27107	broad.mit.edu	37	3	101390793	101390793	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101390793C>A	ENST00000461821.1	-	2	778	c.575G>T	c.(574-576)aGa>aTa	p.R192I	ZBTB11_ENST00000312938.4_Intron			O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	4	29	0	24	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGTTACAAATCTTAAAGCTGA	0.378000													0	0	1	0	0	1	0.894270	4	31	0	24	1	1.475931e-01	5	0	0	24	1
CEP97	79598	broad.mit.edu	37	3	101451471	101451471	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:101451471A>C	ENST00000341893.3	+	6	1453	c.701A>C	c.(700-702)gAt>gCt	p.D234A	CEP97_ENST00000462076.1_3'UTR|CEP97_ENST00000494050.1_Missense_Mutation_p.D234A|CEP97_ENST00000327230.4_Missense_Mutation_p.D234A			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	7	20	0	38	234	LRRCT.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AGAGTCCTAGATGGATATGTG	0.403000													1	1	1	1	1	1	0.993042	8	20	0	43	0	2.237903e-01	0	3	0	43	5
ZPLD1	131368	broad.mit.edu	37	3	102187875	102187875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:102187875G>T	ENST00000306176.1	+	8	977	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	ZPLD1_ENST00000466937.1_Nonsense_Mutation_p.E277*|ZPLD1_ENST00000491959.1_Nonsense_Mutation_p.E277*	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	16	41	0	68	277	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GTTTTCTTTTGAAGTGTTCCG	0.478000													1	1	1	1	1	1	0.999973	16	44	0	69	0	0	0	0	0	69	5
CBLB	868	broad.mit.edu	37	3	105452861	105452861	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:105452861C>T	ENST00000264122.4	-	9	1516	c.1195G>A	c.(1195-1197)Gca>Aca	p.A399T	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.A399T|CBLB_ENST00000403724.1_Missense_Mutation_p.A399T|CBLB_ENST00000394027.3_Missense_Mutation_p.A421T	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	15	32	0	44	399					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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ACCTGCCATGCCGTAAGGCAA	0.393000			Mis S		AML								1	1	1	1	1	1	0.999995	18	40	0	50	1	8.877925e-01	6	5	0	50	5
BBX	56987	broad.mit.edu	37	3	107492183	107492183	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:107492183T>G	ENST00000415149.2	+	11	1942	c.1615T>G	c.(1615-1617)Tca>Gca	p.S539A	BBX_ENST00000406780.1_Missense_Mutation_p.S539A|BBX_ENST00000402543.1_Missense_Mutation_p.S539A|BBX_ENST00000416476.2_Intron|BBX_ENST00000325805.8_Missense_Mutation_p.S539A	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	29	53	0	81	539	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GAAGAAAATGTCAAAGGAGAA	0.443000													1	1	1	1	1	1	1.000000	31	57	0	83	1	8.275238e-01	4	4	0	83	5
MORC1	27136	broad.mit.edu	37	3	108724067	108724067	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:108724067C>A	ENST00000232603.5	-	19	1945	c.1863G>T	c.(1861-1863)caG>caT	p.Q621H	MORC1_ENST00000483760.1_Missense_Mutation_p.Q600H	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	12	26	0	33	621					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTTTCTTTTCTGTCCTCTAC	0.378000													1	1	1	1	1	1	0.999962	15	28	0	35	0	0	0	0	0	35	5
PHLDB2	90102	broad.mit.edu	37	3	111603511	111603511	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:111603511C>T	ENST00000431670.2	+	2	998	c.587C>T	c.(586-588)tCg>tTg	p.S196L	PHLDB2_ENST00000478922.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S223L|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S196L|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S196L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	27	52	0	92	196						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATCAGCAGATCGGGAGCCGCA	0.562000													1	1	1	1	1	1	1.000000	28	54	0	100	1	9.435040e-01	6	6	0	100	5
PHLDB2	90102	broad.mit.edu	37	3	111671466	111671466	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:111671466C>A	ENST00000431670.2	+	11	3090	c.2679C>A	c.(2677-2679)ctC>ctA	p.L893L	PHLDB2_ENST00000393923.3_Silent_p.L877L|PHLDB2_ENST00000481953.1_Silent_p.L850L|PHLDB2_ENST00000412622.1_Silent_p.L850L|PHLDB2_ENST00000495180.1_Intron|PHLDB2_ENST00000393925.3_Silent_p.L893L	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	36	46	0	75	893						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGAAGGCCTCTATCTGAGTG	0.408000													1	1	1	1	1	1	1.000000	40	51	0	81	1	9.864008e-01	7	5	0	81	5
SLC9C1	285335	broad.mit.edu	37	3	111898408	111898408	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:111898408T>A	ENST00000305815.5	-	23	3141	c.2889A>T	c.(2887-2889)aaA>aaT	p.K963N	SLC9C1_ENST00000487372.1_Missense_Mutation_p.K915N	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	22	46	0	60	963					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGGCAGAATATTTCATAGGTT	0.338000													1	1	1	1	1	1	1.000000	23	50	0	63	0	0	0	0	0	63	5
CCDC80	151887	broad.mit.edu	37	3	112335658	112335658	+	Silent	SNP	G	G	A	rs141976023		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:112335658G>A	ENST00000206423.3	-	5	3173	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	CCDC80_ENST00000439685.2_Silent_p.I740I	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	30	36	0	80	740										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GGAAAGTATCGATCAGATCAA	0.388000													1	1	1	1	1	1	1.000000	32	38	0	88	1	1	5	76	0	88	5
CD200R1L	344807	broad.mit.edu	37	3	112545866	112545866	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:112545866T>G	ENST00000488794.1	-	6	1179	c.590A>C	c.(589-591)aAg>aCg	p.K197T	CD200R1L_ENST00000398214.1_Missense_Mutation_p.K218T|CD200R1L_ENST00000448932.1_Missense_Mutation_p.K197T			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	25	50	0	91	218	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GGACAGACTCTTGTTGCCAGT	0.453000													1	1	1	1	1	1	1.000000	25	55	0	100	0	0	0	0	0	100	5
CD200R1	131450	broad.mit.edu	37	3	112693688	112693688	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:112693688C>A	ENST00000471858.1	-	1	249	c.17G>T	c.(16-18)aGa>aTa	p.R6I	CD200R1_ENST00000440122.2_Missense_Mutation_p.R6I|CD200R1_ENST00000295863.4_Missense_Mutation_p.R6I|CD200R1_ENST00000308611.3_Missense_Mutation_p.R6I|CD200R1_ENST00000490004.1_Missense_Mutation_p.R6I	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	16	25	0	33	6					interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.R6I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTTAGCAGTTCTCCAAGGGCA	0.468000													1	1	1	1	1	1	1.000000	20	26	0	35	0	1.964286e-01	0	2	0	35	5
SIDT1	54847	broad.mit.edu	37	3	113327383	113327383	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113327383G>A	ENST00000264852.4	+	17	2446	c.1720_splice	c.e17+1	p.D574_splice	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Splice_Site_p.D574_splice	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	29	50	0	89	574						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CTTCCAATTCGGTAATTAGAA	0.423000													1	1	1	1	1	1	1.000000	30	56	0	96	0	0	0	0	0	96	5
KIAA2018	205717	broad.mit.edu	37	3	113374248	113374248	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113374248C>T	ENST00000316407.4	-	7	6691	c.6281G>A	c.(6280-6282)cGa>cAa	p.R2094Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.R2094Q	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	21	50	0	100	2094					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGCTGGAGTTCGAGTGGCACT	0.443000													1	1	1	1	1	1	1.000000	22	54	0	106	0	0	0	1	0	106	5
KIAA2018	205717	broad.mit.edu	37	3	113375981	113375981	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113375981T>C	ENST00000316407.4	-	7	4958	c.4548A>G	c.(4546-4548)caA>caG	p.Q1516Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.Q1516Q	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	19	31	0	61	1516	Gln-rich.				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAACTTCCTGTTGCAGAGTCC	0.483000													1	1	1	1	1	1	0.999999	20	31	0	66	0	0	0	1	0	66	5
GRAMD1C	54762	broad.mit.edu	37	3	113627897	113627897	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113627897G>T	ENST00000358160.4	+	9	1374	c.882G>T	c.(880-882)aaG>aaT	p.K294N	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.K89N|GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.K127N|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	20	37	0	49	294						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGCCATCAAAGTCACTGGACT	0.333000													1	1	1	1	1	1	1.000000	23	41	0	58	0	1.356852e-01	1	1	0	58	5
GRAMD1C	54762	broad.mit.edu	37	3	113634593	113634593	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113634593G>A	ENST00000358160.4	+	10	1490	c.998G>A	c.(997-999)cGt>cAt	p.R333H	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R128H|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R62H|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R166H|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	10	28	0	31	333						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TTTATCAACCGTATTTTTCAT	0.323000													1	1	1	1	1	1	0.999129	11	28	0	35	0	2.127866e-01	0	3	0	35	5
QTRTD1	79691	broad.mit.edu	37	3	113789594	113789594	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:113789594A>C	ENST00000281273.4	+	6	712	c.455A>C	c.(454-456)aAg>aCg	p.K152T	QTRTD1_ENST00000485050.1_Missense_Mutation_p.K164T|QTRTD1_ENST00000493014.1_Missense_Mutation_p.K46T|QTRTD1_ENST00000466050.1_3'UTR|QTRTD1_ENST00000479882.1_Missense_Mutation_p.K29T	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	27	44	0	73	152					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GTATCTTGTAAGGAAGCAACT	0.483000													1	1	1	1	1	1	1.000000	28	46	0	75	1	9.910966e-01	7	8	0	75	5
ZBTB20	26137	broad.mit.edu	37	3	114057897	114057897	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:114057897G>A	ENST00000462705.1	-	12	2783	c.1962C>T	c.(1960-1962)atC>atT	p.I654I	ZBTB20_ENST00000393785.2_Silent_p.I654I|ZBTB20_ENST00000464560.1_Silent_p.I654I|ZBTB20_ENST00000471418.1_Silent_p.I654I|ZBTB20_ENST00000481632.1_Silent_p.I654I|ZBTB20_ENST00000357258.3_Silent_p.I654I|ZBTB20_ENST00000474710.1_Silent_p.I727I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	29	63	0	108	727					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGAACTGCTCGATTTGGTCAA	0.522000													1	1	1	1	1	1	1.000000	32	68	0	122	0	2.485063e-01	1	2	0	122	5
C3orf30	152405	broad.mit.edu	37	3	118865185	118865185	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:118865185G>A	ENST00000295622.1	+	1	189	c.149G>A	c.(148-150)aGa>aAa	p.R50K		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	20	48	0	70	50										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACTGCTCACAGAATAGCTGAC	0.532000													1	1	1	1	1	1	1.000000	26	54	0	78	0	2.565383e-01	0	3	0	78	5
C3orf30	152405	broad.mit.edu	37	3	118865848	118865848	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:118865848C>A	ENST00000295622.1	+	1	852	c.812C>A	c.(811-813)tCt>tAt	p.S271Y		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	45	49	0	91	271										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGAAGAAGTTCTGAGAAGACT	0.488000													1	1	1	1	1	1	1.000000	45	50	0	95	0	6.445379e-01	0	4	0	95	5
B4GALT4	8702	broad.mit.edu	37	3	118948740	118948740	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:118948740C>T	ENST00000467604.1	-	3	598	c.207G>A	c.(205-207)acG>acA	p.T69T	B4GALT4_ENST00000393765.2_Silent_p.T69T|B4GALT4_ENST00000359213.3_Silent_p.T69T|B4GALT4_ENST00000460321.1_Intron|B4GALT4_ENST00000483209.1_Silent_p.T69T|B4GALT4_ENST00000471675.1_Silent_p.T22T|B4GALT4-AS1_ENST00000470790.1_RNA			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	4	42	0	52	69					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CTACCTTCTTCGTGGATGCTT	0.388000													0	0	1	0	0	1	0.893012	4	48	0	52	1	6.489842e-01	4	22	0	52	1
ARHGAP31	57514	broad.mit.edu	37	3	119134773	119134773	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119134773T>C	ENST00000264245.4	+	12	4529	c.3997T>C	c.(3997-3999)Tct>Cct	p.S1333P		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	35	90	0	148	1333					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ATCTGGGGGTTCTAAGCCTTT	0.517000													1	1	1	1	1	1	1.000000	35	93	0	163	0	3.089658e-01	0	4	0	163	5
TMEM39A	55254	broad.mit.edu	37	3	119165904	119165904	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119165904C>T	ENST00000319172.5	-	5	956	c.536G>A	c.(535-537)cGa>cAa	p.R179Q	TMEM39A_ENST00000486159.1_Intron	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	20	30	0	73	179						integral to membrane		p.R179Q(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		TGAATGGCTTCGAAAGAGATT	0.418000													1	1	1	1	1	1	0.999999	20	34	0	82	1	9.999999e-01	22	44	0	82	5
CD80	941	broad.mit.edu	37	3	119256042	119256042	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119256042G>T	ENST00000264246.3	-	4	1004	c.642C>A	c.(640-642)ttC>ttA	p.F214L	CD80_ENST00000383669.3_Missense_Mutation_p.F214L|CD80_ENST00000383668.3_Intron|CD80_ENST00000478182.1_Missense_Mutation_p.F214L	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	31	66	0	124	214	Ig-like C2-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	TGAGACACATGAAGCTGTGGT	0.388000													1	1	1	1	1	1	1.000000	33	73	0	131	0	0	0	1	0	131	5
ADPRH	141	broad.mit.edu	37	3	119306657	119306657	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119306657C>T	ENST00000478399.1	+	4	2411	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	ADPRH_ENST00000478927.1_Missense_Mutation_p.R336W|ADPRH_ENST00000465513.1_Missense_Mutation_p.R336W|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000357003.3_Missense_Mutation_p.R336W			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	24	64	0	112	336					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		ATACAGAAACCGGCTGGAAGA	0.448000													1	1	1	1	1	1	1.000000	25	68	0	120	0	7.697368e-02	1	1	0	120	5
PLA1A	51365	broad.mit.edu	37	3	119316770	119316770	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119316770G>T	ENST00000273371.4	+	1	82	c.10G>T	c.(10-12)Ggt>Tgt	p.G4C	PLA1A_ENST00000495992.1_Missense_Mutation_p.G4C|PLA1A_ENST00000488919.1_5'UTR	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	4	14	0	16	4					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATGCCCCCAGGTCCCTGGGA	0.542000													1	0	1	1	1	1	0.897419	4	16	0	21	0	4.042161e-01	0	6	0	21	4
MAATS1	89876	broad.mit.edu	37	3	119451299	119451299	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:119451299A>C	ENST00000273390.5	+	9	1254	c.1177A>C	c.(1177-1179)Aac>Cac	p.N393H		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1	7	13	0	21																		TGTAGTAAAAAACTACTATCT	0.338000													0	0	1	0	0	1	0.986905	7	15	0	22	1	9.665281e-01	10	7	0	22	1
GTF2E1	2960	broad.mit.edu	37	3	120469578	120469578	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:120469578G>A	ENST00000283875.5	+	2	272	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	23	41	0	76	60	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			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAGCAACTTCGATCAGTTTTG	0.453000													1	1	1	1	1	1	1.000000	25	45	0	80	1	9.749065e-01	9	5	0	80	5
POLQ	10721	broad.mit.edu	37	3	121207791	121207791	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:121207791C>A	ENST00000264233.5	-	16	4115	c.3987G>T	c.(3985-3987)gaG>gaT	p.E1329D		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	23	37	0	84	1329					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			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTATTATTTTCTCTGACTGAG	0.373000								DNA polymerases (catalytic subunits)					1	1	1	1	1	1	1.000000	23	43	0	90	0	5.716653e-01	1	4	0	90	5
GOLGB1	2804	broad.mit.edu	37	3	121410023	121410023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:121410023C>A	ENST00000393667.3	-	14	8298	c.8188G>T	c.(8188-8190)Gaa>Taa	p.E2730*	GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.E2725*	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	61	116	0	186	2725					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCTTTATTTTCTTTGGTGACC	0.398000													1	1	1	1	1	1	1.000000	69	121	0	206	1	9.999982e-01	6	34	0	206	5
GOLGB1	2804	broad.mit.edu	37	3	121448762	121448762	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:121448762T>C	ENST00000393667.3	-	3	309	c.199A>G	c.(199-201)Att>Gtt	p.I67V	GOLGB1_ENST00000340645.5_Missense_Mutation_p.I67V|GOLGB1_ENST00000472829.1_5'UTR	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	23	33	0	54	67					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGTCTAATAATATCTTTTAGC	0.383000													1	1	1	1	1	1	1.000000	24	38	0	59	0	0	0	1	0	59	5
CASR	846	broad.mit.edu	37	3	122002980	122002980	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122002980C>T	ENST00000498619.1	+	7	2647	c.2209C>T	c.(2209-2211)Ctg>Ttg	p.L737L	CASR_ENST00000490131.1_Silent_p.L727L|CASR_ENST00000296154.5_Silent_p.L727L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	18	41	0	81	727					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			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCAGTTCCTGCTGGTTTTCCT	0.567000													1	1	1	1	1	1	0.999999	20	45	0	86	0	0	0	0	0	86	5
FAM162A	26355	broad.mit.edu	37	3	122121631	122121631	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122121631G>T	ENST00000477892.1	+	2	143	c.59G>T	c.(58-60)aGa>aTa	p.R20I	FAM162A_ENST00000469967.1_Missense_Mutation_p.R20I|FAM162A_ENST00000232125.5_Missense_Mutation_p.R10I	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	8	21	0	17	20						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TTATGTGAAAGAGATGTTTCC	0.373000													1	1	1	1	1	1	0.992918	8	21	0	17	1	1	224	270	0	17	5
FAM162A	26355	broad.mit.edu	37	3	122121665	122121665	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122121665C>T	ENST00000477892.1	+	2	177	c.93C>T	c.(91-93)agC>agT	p.S31S	FAM162A_ENST00000469967.1_Silent_p.S31S|FAM162A_ENST00000232125.5_Silent_p.S21S	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	15	35	0	37	31						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TTACCAGAAGCTCTGATTTGA	0.358000													1	1	1	1	1	1	0.999990	17	38	0	40	1	1	249	281	0	40	5
PARP9	83666	broad.mit.edu	37	3	122255817	122255817	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122255817C>A	ENST00000462315.1	-	9	2162	c.1869G>T	c.(1867-1869)aaG>aaT	p.K623N	PARP9_ENST00000477522.2_Missense_Mutation_p.K623N|PARP9_ENST00000360356.2_Missense_Mutation_p.K658N|PARP9_ENST00000492382.1_Missense_Mutation_p.K203N|PARP9_ENST00000471785.1_Missense_Mutation_p.K623N	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	39	69	0	104	658					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CAAACTGTTTCTTTTGATCTA	0.353000													1	1	1	1	1	1	1.000000	45	78	0	119	1	1	41	53	0	119	5
SEMA5B	54437	broad.mit.edu	37	3	122630331	122630331	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122630331C>A	ENST00000195173.4	-	21	3395	c.3092G>T	c.(3091-3093)aGa>aTa	p.R1031I	SEMA5B_ENST00000357599.3_Intron|SEMA5B_ENST00000451055.2_Intron			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	9	17	0	34	0					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGTCCGGTTTCTTTTACCTGC	0.607000													1	0	1	1	1	1	0.996859	9	18	0	37	0	0	0	1	0	37	4
SEMA5B	54437	broad.mit.edu	37	3	122641234	122641234	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:122641234C>T	ENST00000195173.4	-	11	1636	c.1333G>A	c.(1333-1335)Gcg>Acg	p.A445T	SEMA5B_ENST00000357599.3_Missense_Mutation_p.A445T|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A499T			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	8	12	0	17	445	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGGCGCTGCGCGTCCTGCAGG	0.701000													1	1	1	1	1	1	0.994006	8	14	0	18	0	0	0	1	0	18	5
MYLK	4638	broad.mit.edu	37	3	123383094	123383094	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:123383094G>A	ENST00000360772.3	-	24	4221	c.3843C>T	c.(3841-3843)agC>agT	p.S1281S	MYLK_ENST00000346322.5_Silent_p.S1212S|MYLK_ENST00000354792.5_Silent_p.S81S|MYLK_ENST00000475616.1_Silent_p.S1281S|MYLK_ENST00000359169.1_Silent_p.S1281S|MYLK_ENST00000360304.3_Silent_p.S1281S			Q15746	MYLK_HUMAN	myosin light chain kinase	53	93	0	164	1281	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	p.S1281S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCATGTGCTCGCTTTCCTGGA	0.617000													1	1	1	1	1	1	1.000000	58	102	0	179	0	9.999028e-01	1	28	0	179	5
KALRN	8997	broad.mit.edu	37	3	124141773	124141773	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:124141773A>C	ENST00000360013.3	+	15	2778	c.2651A>C	c.(2650-2652)aAg>aCg	p.K884T	KALRN_ENST00000240874.3_Missense_Mutation_p.K884T|KALRN_ENST00000460856.1_Missense_Mutation_p.K884T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	7	78	0	76	884					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			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAGACTCATAAGCGGCTAGAG	0.502000													1	0	1	1	0	1	0.981986	7	86	0	84	0	7.894737e-03	0	2	0	84	3
MUC13	56667	broad.mit.edu	37	3	124642454	124642454	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:124642454G>A	ENST00000311075.3	-	3	592	c.554C>T	c.(553-555)tCg>tTg	p.S185L		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	18	43	0	61	185	EGF-like 1.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AACACATAACGAATTATCTGC	0.383000													1	1	1	1	1	1	0.999999	20	45	0	74	1	9.972961e-01	12	14	0	74	5
HEG1	57493	broad.mit.edu	37	3	124720800	124720800	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:124720800A>G	ENST00000311127.4	-	11	3480	c.3413T>C	c.(3412-3414)gTg>gCg	p.V1138A		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	13	24	0	39	1138						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						AAATAGCGTCACATTGGAGGC	0.502000													1	1	1	1	1	1	0.999985	16	26	0	41	1	9.713481e-01	4	9	0	41	5
CCDC37	348807	broad.mit.edu	37	3	126137314	126137314	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:126137314G>A	ENST00000393425.1	+	6	534	c.435G>A	c.(433-435)gaG>gaA	p.E145E	CCDC37_ENST00000352312.1_Silent_p.E144E|CCDC37_ENST00000505024.1_Silent_p.E145E			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	28	61	0	90	144										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGAATGTGGAGCCTGAGAACA	0.612000													1	1	1	1	1	1	1.000000	30	63	0	98	0	0	1	0	0	98	5
ZXDC	79364	broad.mit.edu	37	3	126180490	126180490	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:126180490A>G	ENST00000389709.3	-	6	2068	c.2015T>C	c.(2014-2016)gTt>gCt	p.V672A	ZXDC_ENST00000336332.5_Missense_Mutation_p.V672A	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	32	60	0	73	672	Required for transcriptional activation.				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			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CTGCTGCCCAACTGCTCCTGG	0.642000													1	1	1	1	1	1	1.000000	33	63	0	76	1	9.846585e-01	5	11	0	76	5
SEC61A1	29927	broad.mit.edu	37	3	127785899	127785899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:127785899C>T	ENST00000243253.3	+	9	1064	c.880C>T	c.(880-882)Cag>Tag	p.Q294*	SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000424880.2_Nonsense_Mutation_p.Q174*|SEC61A1_ENST00000464451.1_Nonsense_Mutation_p.Q300*|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	18	94	0	127	294					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CATCATCCTGCAGTCTGCCCT	0.557000													1	1	1	1	1	1	0.999999	21	104	0	133	1	1	8	312	0	133	5
KIAA1257	57501	broad.mit.edu	37	3	128696954	128696954	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:128696954C>A	ENST00000265068.5	-	5	909	c.742G>T	c.(742-744)Gag>Tag	p.E248*	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Nonsense_Mutation_p.E136*|KIAA1257_ENST00000511438.1_Nonsense_Mutation_p.E248*	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	11	41	0	53	248										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TGGTTCGACTCTTCTCTGACA	0.418000													1	1	1	1	1	1	0.999750	13	43	0	54	0	0	0	0	0	54	5
EFCC1	79825	broad.mit.edu	37	3	128757724	128757724	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:128757724T>G	ENST00000436022.2	+	7	1641	c.330T>G	c.(328-330)gcT>gcG	p.A110A	EFCC1_ENST00000480450.1_Silent_p.A547A	NM_024768.2	NP_079044.2			EF-hand and coiled-coil domain containing 1	12	111	0	134																		CGCTGGACGCTTTCAGGGACC	0.542000													1	0	1	1	0	1	0.999622	13	122	0	151	0	3.076561e-02	0	3	0	151	3
H1FX	8971	broad.mit.edu	37	3	129034193	129034193	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:129034193T>G	ENST00000333762.4	-	1	927	c.553A>C	c.(553-555)Aag>Cag	p.K185Q		NM_006026.3	NP_006017.1	Q92522	H1X_HUMAN	H1 histone family, member X	11	26	0	42	185					nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)|ovary(1)|urinary_tract(2)	4						TTCTTGGCCTTGCCGCCTTTG	0.706000													1	1	1	1	0	1	0.999078	11	31	0	50	1	1	159	218	0	50	4
MBD4	8930	broad.mit.edu	37	3	129155479	129155479	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:129155479A>T	ENST00000429544.2	-	3	1203	c.1008T>A	c.(1006-1008)ttT>ttA	p.F336L	MBD4_ENST00000507208.1_Missense_Mutation_p.F336L|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000249910.1_Missense_Mutation_p.F336L|MBD4_ENST00000503197.1_Missense_Mutation_p.F336L	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	27	52	0	60	336					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TGGCTGAACAAAATTTGTTTA	0.338000								Base excision repair (BER), DNA glycosylases					1	1	1	1	1	1	1.000000	30	54	0	61	1	1	47	51	0	61	5
COL6A5	256076	broad.mit.edu	37	3	130189741	130189741	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:130189741G>T	ENST00000265379.6	+	39	7998	c.7504G>T	c.(7504-7506)Gat>Tat	p.D2502Y	COL6A5_ENST00000432398.2_Missense_Mutation_p.D2502Y			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	10	17	0	41	2502	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TCCCACCGAAGATATGAAAGC	0.428000													1	1	1	1	1	1	0.999351	11	18	0	44	0	0	0	0	0	44	5
COL6A6	131873	broad.mit.edu	37	3	130279266	130279266	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:130279266G>T	ENST00000358511.6	+	1	89	c.58G>T	c.(58-60)Gat>Tat	p.D20Y	COL6A6_ENST00000453409.2_Missense_Mutation_p.D20Y	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	16	21	0	42	20	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTGAACCAAGATTCCGGTAA	0.294000													1	1	1	1	1	1	0.999998	18	22	0	45	0	0	0	0	0	45	5
ATP2C1	27032	broad.mit.edu	37	3	130698227	130698227	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:130698227A>C	ENST00000510168.1	+	19	2255	c.1705A>C	c.(1705-1707)Att>Ctt	p.I569L	ATP2C1_ENST00000328560.8_Missense_Mutation_p.I569L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.I603L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.I569L|ATP2C1_ENST00000504948.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.I569L|ATP2C1_ENST00000504381.1_Missense_Mutation_p.I514L|ATP2C1_ENST00000505330.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000513801.1_Missense_Mutation_p.I553L|ATP2C1_ENST00000428331.2_Missense_Mutation_p.I569L|ATP2C1_ENST00000508532.1_Missense_Mutation_p.I569L|ATP2C1_ENST00000507488.2_Missense_Mutation_p.I553L|ATP2C1_ENST00000533801.2_Missense_Mutation_p.I564L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	16	30	0	49	569					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|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AATAAAAATGATTACTGGAGA	0.383000									Hailey-Hailey disease				1	1	1	1	1	1	0.999992	17	32	0	52	1	9.999999e-01	37	42	0	52	5
ACPP	55	broad.mit.edu	37	3	132075553	132075553	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132075553A>G	ENST00000336375.5	+	10	1082	c.992A>G	c.(991-993)tAt>tGt	p.Y331C	ACPP_ENST00000351273.7_Missense_Mutation_p.Y331C|ACPP_ENST00000475741.1_Missense_Mutation_p.Y298C	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	53	98	0	144	331						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GAGATGTACTATCGGAATGAG	0.532000													1	1	1	1	1	1	1.000000	55	102	0	155	1	7.641491e-01	4	3	0	155	5
DNAJC13	23317	broad.mit.edu	37	3	132179159	132179159	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132179159G>T	ENST00000260818.6	+	14	1763	c.1515G>T	c.(1513-1515)aaG>aaT	p.K505N	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	14	18	0	31	505							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TCTCGTCAAAGAAGTTTCTGG	0.308000													1	1	1	1	1	1	0.999973	15	21	0	32	1	8.455086e-01	4	3	0	32	5
DNAJC13	23317	broad.mit.edu	37	3	132218600	132218600	+	Missense_Mutation	SNP	G	G	A	rs143638513	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132218600G>A	ENST00000260818.6	+	38	4612	c.4364G>A	c.(4363-4365)cGc>cAc	p.R1455H		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	44	121	0	215	1455							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GCATTTAGTCGCTGTGTGGCT	0.418000													1	1	1	1	1	1	1.000000	50	140	0	256	1	9.273793e-01	5	10	0	256	5
NPHP3	27031	broad.mit.edu	37	3	132403475	132403475	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:132403475G>A	ENST00000337331.5	-	24	3579	c.3493C>T	c.(3493-3495)Cgg>Tgg	p.R1165W	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	16	31	0	32	1165					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	p.R1165W(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCACGTCTCCGAATATCTAAA	0.388000													1	1	1	1	1	1	0.999980	16	34	0	33	1	9.207507e-01	4	8	0	33	5
TMEM108	66000	broad.mit.edu	37	3	133099396	133099396	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133099396C>T	ENST00000515826.1	+	3	964	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.R281C|TMEM108_ENST00000393130.3_Missense_Mutation_p.R281C			Q6UXF1	TM108_HUMAN	transmembrane protein 108	23	29	0	56	281						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCCAGGCCTTCGCAGAGCAGC	0.647000													1	1	1	1	1	1	1.000000	24	31	0	58	0	1.966122e-01	0	2	0	58	5
TF	7018	broad.mit.edu	37	3	133485143	133485143	+	Missense_Mutation	SNP	T	T	C	rs142116896		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133485143T>C	ENST00000402696.3	+	12	1837	c.1352T>C	c.(1351-1353)gTg>gCg	p.V451A	TF_ENST00000264998.3_Missense_Mutation_p.V324A	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	72	100	0	162	451	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			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	ATAGCAGTGGTGAAGAAATCA	0.493000													1	1	1	1	1	1	1.000000	75	106	0	169	0	0	0	0	0	169	5
SLCO2A1	6578	broad.mit.edu	37	3	133661613	133661613	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133661613C>T	ENST00000310926.4	-	11	1735		c.e11-1		SLCO2A1_ENST00000493729.1_Splice_Site	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	25	46	0	83						sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						TCAAATAGATCTTCAAGAGGA	0.517000													1	1	1	1	1	1	1.000000	26	49	0	86	0	9.771129e-01	0	15	0	86	5
SLCO2A1	6578	broad.mit.edu	37	3	133666229	133666229	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:133666229C>T	ENST00000310926.4	-	9	1439	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R313H	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	16	44	0	41	389					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GAAAACAAAGCGCTTCATGAG	0.512000													1	1	1	1	1	1	0.999973	16	45	0	42	1	9.573146e-01	3	15	0	42	5
EPHB1	2047	broad.mit.edu	37	3	134880997	134880997	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:134880997G>A	ENST00000398015.3	+	7	1930	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	EPHB1_ENST00000493838.1_Silent_p.K81K	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	24	51	0	97	520	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCAGTGGCAAGATGTGCTTCC	0.567000													1	1	1	1	1	1	1.000000	27	54	0	108	0	0	0	1	0	108	5
PPP2R3A	5523	broad.mit.edu	37	3	135722020	135722020	+	Silent	SNP	C	C	A	rs144470120		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:135722020C>A	ENST00000264977.3	+	2	2297	c.1680C>A	c.(1678-1680)gtC>gtA	p.V560V	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	21	40	0	67	560					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATCTAAAGTCTCTTCACCCA	0.408000													1	1	1	1	1	1	1.000000	22	44	0	69	0	0	0	0	0	69	5
STAG1	10274	broad.mit.edu	37	3	136096557	136096557	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:136096557A>C	ENST00000383202.2	-	23	2571	c.2315T>G	c.(2314-2316)tTt>tGt	p.F772C	STAG1_ENST00000236698.5_Missense_Mutation_p.F772C|STAG1_ENST00000434713.2_Missense_Mutation_p.F546C|STAG1_ENST00000536929.1_Missense_Mutation_p.F356C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	18	23	0	43	772					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AACAGCCAAAAAGGATTTCAC	0.368000													1	1	1	1	1	1	1.000000	20	25	0	49	1	9.999702e-01	12	18	0	49	5
STAG1	10274	broad.mit.edu	37	3	136221539	136221539	+	Silent	SNP	G	G	A	rs113504457	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:136221539G>A	ENST00000383202.2	-	8	1015	c.759C>T	c.(757-759)gcC>gcT	p.A253A	STAG1_ENST00000236698.5_Silent_p.A253A|STAG1_ENST00000434713.2_Silent_p.A27A	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	6	50	0	61	253					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.A253A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TATTTCTCTCGGCTTCATATT	0.383000													1	1	1	1	1	1	0.967732	6	52	0	62	0	4.797279e-01	0	14	0	62	5
SLC35G2	80723	broad.mit.edu	37	3	136574280	136574280	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:136574280C>A	ENST00000446465.2	+	2	1606	c.978C>A	c.(976-978)gtC>gtA	p.V326V	SLC35G2_ENST00000393079.3_Silent_p.V326V|RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	16	196	0	230	326	DUF6 2.					Golgi apparatus|integral to membrane											CTATATGTGTCTGTTCTACTG	0.403000													1	1	1	1	0	1	0.999971	17	218	0	253	1	4.490398e-01	6	14	0	253	4
A4GNT	51146	broad.mit.edu	37	3	137843320	137843320	+	Missense_Mutation	SNP	C	C	T	rs142237741		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:137843320C>T	ENST00000236709.3	-	3	1010	c.809G>A	c.(808-810)cGc>cAc	p.R270H		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	25	38	0	89	270					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	p.R270H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TTCATAGTAGCGCCTCCACTC	0.498000													1	1	1	1	1	1	1.000000	26	41	0	100	0	0	0	0	0	100	5
DBR1	51163	broad.mit.edu	37	3	137881390	137881390	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:137881390C>A	ENST00000260803.4	-	8	1129	c.976G>T	c.(976-978)Gaa>Taa	p.E326*	DBR1_ENST00000505015.2_Nonsense_Mutation_p.E92*	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	21	46	0	54	326						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TCCAATACTTCTTTCATACCT	0.333000													1	1	1	1	1	1	1.000000	23	53	0	64	1	9.744524e-01	6	11	0	64	5
NME9	347736	broad.mit.edu	37	3	138025310	138025310	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:138025310C>A	ENST00000383180.2	-	8	527	c.290G>T	c.(289-291)aGg>aTg	p.R97M	NME9_ENST00000536478.1_Missense_Mutation_p.R97M|NME9_ENST00000333911.3_Missense_Mutation_p.R158M|NME9_ENST00000341790.5_Missense_Mutation_p.R95M|NME9_ENST00000317876.4_Missense_Mutation_p.R97M|NME9_ENST00000484930.1_Missense_Mutation_p.R95M	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	13	40	0	58	158	Thioredoxin.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GGTACAGGTCCTCTCTGATGA	0.458000													1	1	1	1	1	1	0.999743	13	45	0	65	1	8.158504e-01	4	9	0	65	5
CLSTN2	64084	broad.mit.edu	37	3	140123599	140123599	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:140123599G>A	ENST00000458420.3	+	4	818	c.628G>A	c.(628-630)Gac>Aac	p.D210N		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	17	73	0	77	210	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTTTGCCATCGACAGAAATGG	0.527000										HNSCC(16;0.037)			1	1	1	1	1	1	0.999996	19	77	0	79	0	0	0	0	0	79	5
CLSTN2	64084	broad.mit.edu	37	3	140281660	140281660	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:140281660C>A	ENST00000458420.3	+	14	2410	c.2220C>A	c.(2218-2220)ggC>ggA	p.G740G		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	20	45	0	58	740					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CAGGTGTGGGCTCCATGAGCC	0.567000										HNSCC(16;0.037)			1	1	1	1	1	1	0.999999	21	53	0	64	0	0	0	1	0	64	5
ZBTB38	253461	broad.mit.edu	37	3	141162802	141162802	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:141162802T>G	ENST00000514251.1	+	4	1851	c.1572T>G	c.(1570-1572)acT>acG	p.T524T	ZBTB38_ENST00000441582.2_Silent_p.T524T|ZBTB38_ENST00000321464.5_Silent_p.T525T			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	25	38	0	64	524					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTCTTGAAACTTTCATGACCT	0.383000													1	1	1	1	1	1	1.000000	25	43	0	68	1	9.424778e-01	6	5	0	68	5
ZBTB38	253461	broad.mit.edu	37	3	141163404	141163404	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:141163404C>T	ENST00000514251.1	+	4	2453	c.2174C>T	c.(2173-2175)tCg>tTg	p.S725L	ZBTB38_ENST00000441582.2_Missense_Mutation_p.S725L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.S726L			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	20	61	0	108	725					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CAGTTTTCATCGGTGATCATG	0.502000													1	1	1	1	1	1	0.999999	21	65	0	119	1	8.811807e-01	3	11	0	119	5
ATP1B3	483	broad.mit.edu	37	3	141644523	141644523	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:141644523A>C	ENST00000286371.3	+	7	1008	c.820A>C	c.(820-822)Aaa>Caa	p.K274Q	ATP1B3_ENST00000484727.1_3'UTR|ATP1B3_ENST00000539728.1_3'UTR|ATP1B3_ENST00000462082.1_Missense_Mutation_p.K84Q	NM_001679.2	NP_001670.1	P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	49	110	0	143	274					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						AGTTATGTTCAAAATCACAGC	0.403000													1	1	1	1	1	1	1.000000	50	125	0	156	1	1	70	112	0	156	5
ATR	545	broad.mit.edu	37	3	142178199	142178199	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142178199G>A	ENST00000350721.4	-	43	7340	c.7219C>T	c.(7219-7221)Cgc>Tgc	p.R2407C	ATR_ENST00000383101.3_Missense_Mutation_p.R2343C	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	16	28	0	55	2407	PI3K/PI4K.				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			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATACACTGGCGAAGTTCTTTT	0.383000								Other conserved DNA damage response genes					1	1	1	1	1	1	0.999999	20	33	0	65	1	9.998662e-01	11	19	0	65	5
ATR	545	broad.mit.edu	37	3	142278191	142278191	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142278191T>G	ENST00000350721.4	-	7	1755	c.1634A>C	c.(1633-1635)aAg>aCg	p.K545T	ATR_ENST00000383101.3_Missense_Mutation_p.K481T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	13	28	0	42	545					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			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCTACAGCTCTTAAGCACTTT	0.373000								Other conserved DNA damage response genes					1	1	1	1	1	1	0.999905	14	32	0	43	0	1.020408e-01	1	1	0	43	5
ATR	545	broad.mit.edu	37	3	142281164	142281164	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142281164C>T	ENST00000350721.4	-	4	1201	c.1080G>A	c.(1078-1080)ggG>ggA	p.G360G	ATR_ENST00000383101.3_Silent_p.G360G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	22	44	0	59	360					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			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAGATTCATACCCAGCTGGCA	0.398000								Other conserved DNA damage response genes					1	1	1	1	1	1	1.000000	22	48	0	64	0	0	0	0	0	64	5
PLS1	5357	broad.mit.edu	37	3	142395077	142395077	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142395077T>C	ENST00000337777.3	+	5	656	c.443T>C	c.(442-444)aTg>aCg	p.M148T	PLS1_ENST00000497002.1_Missense_Mutation_p.M148T|PLS1_ENST00000457734.2_Missense_Mutation_p.M148T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	34	79	0	95	148	Actin-binding 1.|CH 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTTATACCCATGAATCCCAAT	0.413000													1	1	1	1	1	1	1.000000	34	84	0	102	1	9.999954e-01	31	22	0	102	5
TRPC1	7220	broad.mit.edu	37	3	142503722	142503722	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142503722C>A	ENST00000273482.6	+	6	1426	c.1035C>A	c.(1033-1035)atC>atA	p.I345I	TRPC1_ENST00000476941.1_Silent_p.I379I	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	4	27	0	37	379					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			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTGGCAGAATCATTCACACAC	0.358000													0	0	1	0	0	1	0.894387	4	30	0	41	1	3.077589e-01	3	5	0	41	1
PCOLCE2	26577	broad.mit.edu	37	3	142548671	142548671	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:142548671C>A	ENST00000295992.3	-	6	1034	c.728G>T	c.(727-729)aGa>aTa	p.R243I	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	29	37	0	51	243	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AAGTTCATTTCTCTCAGACAC	0.303000													1	1	1	1	1	1	1.000000	30	37	0	51	0	0	0	1	0	51	5
CPA3	1359	broad.mit.edu	37	3	148583119	148583119	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:148583119T>G	ENST00000296046.3	+	1	77	c.25T>G	c.(25-27)Ttg>Gtg	p.L9V	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	15	54	0	65	9					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GCCTGTGGGTTTGATTGCTAC	0.468000													1	1	1	1	1	1	0.999985	17	58	0	74	0	0	0	1	0	74	5
HLTF	6596	broad.mit.edu	37	3	148756968	148756968	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:148756968C>A	ENST00000310053.5	-	23	2857	c.2664G>T	c.(2662-2664)aaG>aaT	p.K888N	HLTF_ENST00000392912.2_Missense_Mutation_p.K888N|HLTF_ENST00000494055.1_Missense_Mutation_p.K888N|HLTF_ENST00000465259.1_Missense_Mutation_p.K887N	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	7	17	0	23	888	Helicase C-terminal.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAACTCTTTTCTTTTGGGCCA	0.373000													1	1	1	1	1	1	0.993318	8	18	0	25	1	9.990936e-01	13	25	0	25	5
HLTF	6596	broad.mit.edu	37	3	148768120	148768120	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:148768120A>C	ENST00000310053.5	-	15	1709	c.1516T>G	c.(1516-1518)Ttt>Gtt	p.F506V	HLTF_ENST00000392912.2_Missense_Mutation_p.F506V|HLTF_ENST00000494055.1_Missense_Mutation_p.F506V|HLTF_ENST00000465259.1_Missense_Mutation_p.F505V	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	16	32	0	23	506	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TAAACATAAAAATTCAAGTGT	0.303000													1	1	1	1	1	1	0.999996	18	36	0	23	1	9.778396e-01	7	9	0	23	5
PFN2	5217	broad.mit.edu	37	3	149686293	149686293	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:149686293G>T	ENST00000239940.7	-	2	429	c.177C>A	c.(175-177)ttC>ttA	p.F59L	PFN2_ENST00000475518.1_Missense_Mutation_p.F10L|PFN2_ENST00000489155.1_Missense_Mutation_p.F10L|PFN2_ENST00000461868.1_Missense_Mutation_p.F59L|PFN2_ENST00000481767.1_Missense_Mutation_p.F10L|PFN2_ENST00000481275.1_Missense_Mutation_p.F10L|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000423691.2_Missense_Mutation_p.F59L|PFN2_ENST00000494827.1_Missense_Mutation_p.F10L|PFN2_ENST00000497148.1_Missense_Mutation_p.F10L|PFN2_ENST00000490975.1_Missense_Mutation_p.F59L|PFN2_ENST00000452853.2_Missense_Mutation_p.F59L|PFN2_ENST00000498307.1_Missense_Mutation_p.F10L			P35080	PROF2_HUMAN	profilin 2	10	159	0	160	59					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGTTGGTAAAGAAACCTTCCC	0.418000													1	1	1	1	0	1	0.998491	11	173	0	181	1	9.999440e-01	31	276	0	181	4
RP11-166N6.3	0	broad.mit.edu	37	3	150659462	150659462	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:150659462C>T	ENST00000569170.1	-	1	68	c.69G>A	c.(67-69)tgG>tgA	p.W23*	CLRN1_ENST00000328863.4_Missense_Mutation_p.V114M|CLRN1_ENST00000295911.2_Missense_Mutation_p.V38M|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000327047.1_Missense_Mutation_p.V114M						10	22	0	51																		GCTGTCCCCACCATGGTTAAC	0.428000													1	1	1	1	0	1	0.999228	11	23	0	56	0	0	0	0	0	56	4
IGSF10	285313	broad.mit.edu	37	3	151162927	151162927	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151162927C>A	ENST00000282466.3	-	4	4841	c.4842G>T	c.(4840-4842)aaG>aaT	p.K1614N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	33	52	0	117	1614					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCTTTGTGTTCTTCTGTCCAT	0.418000													1	1	1	1	1	1	1.000000	35	55	0	125	0	0	0	0	0	125	5
IGSF10	285313	broad.mit.edu	37	3	151165867	151165867	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151165867C>A	ENST00000282466.3	-	4	1901	c.1902G>T	c.(1900-1902)caG>caT	p.Q634H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	18	51	0	86	634	Ig-like C2-type 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCGGGGTGACCTGTAATATTC	0.408000													1	1	1	1	1	1	0.999997	19	54	0	88	0	0	0	0	0	88	5
AADACL2	344752	broad.mit.edu	37	3	151463410	151463410	+	Missense_Mutation	SNP	G	G	A	rs35364301		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151463410G>A	ENST00000356517.3	+	4	654	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	19	81	1	111	182						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GATCCCACCCGAATCTGCATT	0.423000													1	0	1	1	1	1	0.999568	19	84	1	113	0	0	0	0	1	113	4
AADAC	13	broad.mit.edu	37	3	151545599	151545599	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:151545599T>C	ENST00000232892.6	+	5	965	c.839T>C	c.(838-840)tTt>tCt	p.F280S	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	5	60	0	72	280					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTCTTCAAATTTGTTAATTGG	0.383000													1	1	1	1	0	1	0.967098	6	68	0	85	0	0	0	0	0	85	4
MBNL1	4154	broad.mit.edu	37	3	152174096	152174096	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:152174096A>G	ENST00000324196.5	+	5	1637	c.848A>G	c.(847-849)cAg>cGg	p.Q283R	MBNL1_ENST00000324210.5_Silent_p.A346A|MBNL1_ENST00000282488.7_Silent_p.A266A|MBNL1_ENST00000493459.1_Silent_p.A307A|MBNL1_ENST00000485910.1_Silent_p.A266A|MBNL1_ENST00000485509.1_Missense_Mutation_p.Q283R|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000282486.6_Silent_p.A352A|MBNL1_ENST00000545754.1_Silent_p.A278A|MBNL1_ENST00000463374.1_Silent_p.A352A|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000355460.2_Silent_p.A334A	NM_207296.1	NP_997179.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	86	151	0	356	291					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTGTGTCCGCAGCAACAACAT	0.458000													1	1	1	1	1	1	1.000000	118	192	0	398	1	9.973716e-01	6	12	0	398	5
DHX36	170506	broad.mit.edu	37	3	154018402	154018402	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:154018402T>G	ENST00000496811.1	-	11	1522	c.1442A>C	c.(1441-1443)tAc>tCc	p.Y481S	DHX36_ENST00000544526.1_Missense_Mutation_p.Y481S|DHX36_ENST00000329463.5_Missense_Mutation_p.Y481S|DHX36_ENST00000308361.6_Missense_Mutation_p.Y481S	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	13	24	0	23	481	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAAAACAATGTATCGGATGAG	0.299000													1	1	1	1	1	1	0.999924	14	25	0	28	1	9.999580e-01	18	24	0	28	5
DHX36	170506	broad.mit.edu	37	3	154018782	154018782	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:154018782C>T	ENST00000496811.1	-	10	1432	c.1352G>A	c.(1351-1353)cGa>cAa	p.R451Q	DHX36_ENST00000544526.1_Missense_Mutation_p.R451Q|DHX36_ENST00000329463.5_Missense_Mutation_p.R451Q|DHX36_ENST00000308361.6_Missense_Mutation_p.R451Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	36	61	0	104	451						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTACCTTCTTCGCAGTTCCCT	0.373000													1	1	1	1	1	1	1.000000	39	70	0	119	1	9.999987e-01	19	26	0	119	5
GPR149	344758	broad.mit.edu	37	3	154146951	154146951	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:154146951C>T	ENST00000389740.2	-	1	553	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	25	48	0	75	152						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AGCACCACGCCGAGCACCTGG	0.637000													1	1	1	1	1	1	1.000000	26	50	0	79	0	0	0	0	0	79	5
PLCH1	23007	broad.mit.edu	37	3	155199563	155199563	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:155199563C>A	ENST00000460012.1	-	23	4519	c.4162G>T	c.(4162-4164)Gat>Tat	p.D1388Y	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Missense_Mutation_p.D1426Y|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1388Y|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1388Y			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	27	51	0	91	1426					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTTTTGACATCTTGAATATTG	0.408000													1	1	1	1	1	1	1.000000	29	54	0	95	1	8.230655e-01	2	6	0	95	5
GMPS	8833	broad.mit.edu	37	3	155611439	155611439	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:155611439A>C	ENST00000496455.1	+	2	495	c.160A>C	c.(160-162)Att>Ctt	p.I54L	GMPS_ENST00000295920.7_Intron	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	13	20	0	40	54	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCAGTCTGAAATTTTCCCCTT	0.443000			T	MLL	AML								1	1	1	1	1	1	0.999937	14	21	0	44	1	9.999996e-01	21	41	0	44	5
GMPS	8833	broad.mit.edu	37	3	155652731	155652731	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:155652731T>C	ENST00000496455.1	+	14	2038	c.1703T>C	c.(1702-1704)gTt>gCt	p.V568A	GMPS_ENST00000295920.7_Missense_Mutation_p.V469A	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	19	52	0	94	568					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGCCCACCAGTTAAAGAACCT	0.378000			T	MLL	AML								0	1	1	1	1	1	0.999997	19	52	0	97	1	1	44	67	0	97	4
KCNAB1	7881	broad.mit.edu	37	3	156232899	156232899	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:156232899C>T	ENST00000302490.8	+	10	1572	c.701C>T	c.(700-702)tCt>tTt	p.S234F	KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000490337.1_Missense_Mutation_p.S252F|KCNAB1_ENST00000471742.1_Missense_Mutation_p.S241F|KCNAB1_ENST00000389634.5_Missense_Mutation_p.S205F|KCNAB1_ENST00000389636.5_Missense_Mutation_p.S223F	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	14	49	0	80	252						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAAGCCTATTCTGTAGCAAGA	0.423000													1	1	1	1	1	1	0.999934	15	55	0	94	0	0	0	0	0	94	5
VEPH1	79674	broad.mit.edu	37	3	157177906	157177906	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:157177906C>A	ENST00000494677.1	-	5	1115	c.593G>T	c.(592-594)aGc>aTc	p.S198I	VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000468233.1_Missense_Mutation_p.S198I|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000537559.1_Intron	NM_001167915.1	NP_001161387.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	13	41	0	47	0						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACCATAAATGCTTGATGAAAA	0.378000													0	0	1	0	0	1	0.999750	13	43	0	48	1	8.581195e-01	4	10	0	48	1
VEPH1	79674	broad.mit.edu	37	3	157178088	157178088	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:157178088G>A	ENST00000362010.2	-	4	718	c.411C>T	c.(409-411)ctC>ctT	p.L137L	VEPH1_ENST00000392833.2_Silent_p.L137L|VEPH1_ENST00000468233.1_Silent_p.L137L|VEPH1_ENST00000543418.1_Silent_p.L137L|VEPH1_ENST00000392832.2_Silent_p.L137L|VEPH1_ENST00000494677.1_Silent_p.L137L|VEPH1_ENST00000537559.1_Silent_p.L137L	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	26	57	0	71	137						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGCCTCTGTGGAGGAATTTCA	0.443000													1	1	1	1	1	1	1.000000	30	60	0	73	1	9.746805e-01	6	9	0	73	5
IL12A	3592	broad.mit.edu	37	3	159708090	159708090	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:159708090G>T	ENST00000305579.2	+	2	562	c.255G>T	c.(253-255)atG>atT	p.M85I	IL12A_ENST00000480787.1_Missense_Mutation_p.M85I|IL12A_ENST00000466512.1_Missense_Mutation_p.M85I|CTD-2049J23.2_ENST00000497452.1_RNA	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	31	53	0	79	51					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TCAGCAACATGCTCCAGAAGG	0.592000													1	1	1	1	1	1	1.000000	36	55	0	92	0	0	0	1	0	92	5
SMC4	10051	broad.mit.edu	37	3	160120524	160120524	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160120524C>A	ENST00000357388.3	+	4	830	c.379C>A	c.(379-381)Ctt>Att	p.L127I	SMC4_ENST00000462787.1_Missense_Mutation_p.L127I|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.L127I|SMC4_ENST00000469762.1_Missense_Mutation_p.L102I|SMC4_ENST00000360111.2_Missense_Mutation_p.L127I	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	24	45	0	63	127					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGATTCTATGCTTTTTGTGTT	0.338000													1	1	1	1	1	1	1.000000	25	47	0	71	1	9.935819e-01	14	4	0	71	5
SMC4	10051	broad.mit.edu	37	3	160150975	160150975	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160150975C>T	ENST00000357388.3	+	23	4143	c.3692C>T	c.(3691-3693)tCc>tTc	p.S1231F	SMC4_ENST00000462787.1_Missense_Mutation_p.S1173F|TRIM59_ENST00000543469.1_3'UTR|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.S1231F|SMC4_ENST00000469762.1_Missense_Mutation_p.S1206F|SMC4_ENST00000360111.2_Missense_Mutation_p.S1173F	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	27	33	0	53	1231					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAAATGTGTCCATTGTTGCA	0.343000													1	1	1	1	1	1	1.000000	29	34	0	57	1	1	51	46	0	57	5
ARL14	80117	broad.mit.edu	37	3	160395267	160395267	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160395267A>C	ENST00000320767.2	+	1	320	c.133A>C	c.(133-135)Ata>Cta	p.I45L		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	24	50	0	93	45					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			CATCCCTACAATAGGTTTCAA	0.413000													1	1	1	1	1	1	1.000000	25	54	0	102	1	8.244628e-01	6	3	0	102	5
PPM1L	151742	broad.mit.edu	37	3	160786805	160786805	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160786805C>T	ENST00000498165.1	+	4	1044	c.943C>T	c.(943-945)Cga>Tga	p.R315*	PPM1L_ENST00000464260.1_Nonsense_Mutation_p.R136*|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000295839.9_Nonsense_Mutation_p.R188*	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	23	48	0	97	315	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	p.R315*(2)|p.R136*(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGAAGCAGTTCGATTCATCAA	0.473000													1	1	1	1	1	1	1.000000	24	50	0	99	0	1.110731e-01	1	1	0	99	5
B3GALNT1	8706	broad.mit.edu	37	3	160804162	160804162	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160804162T>C	ENST00000392781.2	-	8	1128	c.381A>G	c.(379-381)aaA>aaG	p.K127K	B3GALNT1_ENST00000392779.2_Silent_p.K127K|B3GALNT1_ENST00000488170.1_Silent_p.K127K|B3GALNT1_ENST00000320474.4_Silent_p.K127K|B3GALNT1_ENST00000392780.1_Silent_p.K127K|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000473285.1_Silent_p.K127K	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	23	44	0	77	127					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			ATGCCAACATTTTGTCTTCCT	0.383000													1	1	1	1	1	1	1.000000	25	50	0	82	0	4.149351e-01	0	4	0	82	5
NMD3	51068	broad.mit.edu	37	3	160952642	160952642	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:160952642A>G	ENST00000460469.1	+	5	940	c.486_splice	c.e5+1	p.K162_splice	NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Splice_Site_p.K162_splice|NMD3_ENST00000351193.2_Splice_Site_p.K162_splice			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	28	70	0	115	162					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GTGAGGCAAAAGGTAATGAGA	0.398000													1	1	1	1	1	1	1.000000	36	77	0	131	1	9.989918e-01	5	22	0	131	5
SI	6476	broad.mit.edu	37	3	164725732	164725732	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164725732T>G	ENST00000264382.3	-	36	4296	c.4234A>C	c.(4234-4236)Aat>Cat	p.N1412H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	12	33	0	42	1412	Sucrase.				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			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGTTCGTCATTTCTGCATTGA	0.259000										HNSCC(35;0.089)			1	1	1	1	1	1	0.999975	16	41	0	53	0	0	0	0	0	53	5
SI	6476	broad.mit.edu	37	3	164737404	164737404	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164737404C>T	ENST00000264382.3	-	28	3471	c.3409G>A	c.(3409-3411)Gac>Aac	p.D1137N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	17	42	0	54	1137	Sucrase.				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			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGGGGTTGGTCTCTTGTGAAC	0.463000										HNSCC(35;0.089)			1	1	1	1	1	1	0.999994	18	45	0	61	0	0	0	0	0	61	5
SI	6476	broad.mit.edu	37	3	164793787	164793787	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164793787T>G	ENST00000264382.3	-	2	76	c.14A>C	c.(13-15)aAa>aCa	p.K5T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	23	23	0	42	5					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			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCACTAAATTTCTTTCTTGC	0.269000										HNSCC(35;0.089)			1	1	1	1	0	1	1.000000	24	24	0	44	0	0	0	0	0	44	4
SLITRK3	22865	broad.mit.edu	37	3	164907717	164907717	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:164907717C>A	ENST00000475390.1	-	2	1345	c.902G>T	c.(901-903)aGt>aTt	p.S301I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S301I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	37	65	0	113	301						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATTCTCCTTACTTGATGACGA	0.438000										HNSCC(40;0.11)			1	1	1	1	1	1	1.000000	38	65	0	119	0	0	0	0	0	119	5
BCHE	590	broad.mit.edu	37	3	165547360	165547360	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:165547360C>T	ENST00000264381.3	-	2	1628	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	27	43	0	79	488			E -> K (in BChE deficiency).		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			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					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)	AAAATTTCCTCGGCTTTTGTG	0.403000													1	1	1	1	1	1	1.000000	30	45	0	84	0	0	0	1	0	84	5
ZBBX	79740	broad.mit.edu	37	3	166958694	166958694	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:166958694C>A	ENST00000392766.2	-	21	2630	c.2290G>T	c.(2290-2292)Gat>Tat	p.D764Y	ZBBX_ENST00000392764.1_Missense_Mutation_p.D735Y|ZBBX_ENST00000392767.2_Missense_Mutation_p.D764Y|ZBBX_ENST00000455345.2_Missense_Mutation_p.D803Y|ZBBX_ENST00000307529.5_Missense_Mutation_p.D803Y	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	18	39	0	54	764						intracellular	zinc ion binding	p.D803N(1)|p.D764N(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTTTGGTATCTCTTCCAGAA	0.383000													1	1	1	1	1	1	1.000000	22	43	0	58	1	7.413002e-01	4	3	0	58	5
ZBBX	79740	broad.mit.edu	37	3	167016237	167016237	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:167016237C>A	ENST00000392766.2	-	18	2075	c.1735G>T	c.(1735-1737)Gaa>Taa	p.E579*	ZBBX_ENST00000392764.1_Nonsense_Mutation_p.E550*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.E579*|ZBBX_ENST00000455345.2_Nonsense_Mutation_p.E579*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.E579*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	20	47	0	44	579						intracellular	zinc ion binding	p.Q578fs*1(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CAGGCTATTTCTTGTAACAAC	0.289000													1	1	1	1	1	1	1.000000	23	58	0	50	0	3.305542e-01	0	4	0	50	5
PDCD10	11235	broad.mit.edu	37	3	167414852	167414852	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:167414852G>A	ENST00000392750.2	-	5	630	c.213C>T	c.(211-213)agC>agT	p.S71S	PDCD10_ENST00000497056.2_Silent_p.S71S|PDCD10_ENST00000473645.2_Silent_p.S71S|PDCD10_ENST00000492396.1_Silent_p.S8S|PDCD10_ENST00000470131.1_Silent_p.S71S|PDCD10_ENST00000471885.1_Silent_p.S71S|PDCD10_ENST00000461494.1_Silent_p.S71S|PDCD10_ENST00000487947.2_Silent_p.S71S	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	20	31	0	65	71					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			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						TAACTTCCACGCTTTTTTTCT	0.333000													1	1	1	1	1	1	0.999999	20	33	0	72	1	1	50	81	0	72	5
FNDC3B	64778	broad.mit.edu	37	3	171830294	171830294	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:171830294G>A	ENST00000336824.4	+	2	124	c.25G>A	c.(25-27)Gac>Aac	p.D9N	FNDC3B_ENST00000415807.2_Missense_Mutation_p.D9N|FNDC3B_ENST00000392699.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000416957.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000423424.1_Missense_Mutation_p.D9N|FNDC3B_ENST00000421757.1_Missense_Mutation_p.D9N	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	17	36	0	71	9						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	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)		GATGATGACCGACCAAATCCC	0.493000													1	1	1	1	1	1	0.999998	19	40	0	74	1	9.663128e-01	8	7	0	74	5
TBL1XR1	79718	broad.mit.edu	37	3	176769356	176769356	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:176769356T>G	ENST00000430069.1	-	5	622	c.363A>C	c.(361-363)caA>caC	p.Q121H	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.Q121H			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	30	53	0	96	121					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			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	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)			TTGCAGATCCTTGTTGGCTGG	0.448000													1	1	1	1	1	1	1.000000	35	64	0	114	1	9.997163e-01	15	13	0	114	5
ZMAT3	64393	broad.mit.edu	37	3	178742906	178742906	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178742906C>T	ENST00000311417.2	-	6	1510	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ZMAT3_ENST00000432729.1_Missense_Mutation_p.E256K	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	30	65	0	102	257					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	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)			TCCATCTCTTCGCCAGCTCCA	0.478000													1	1	1	1	1	1	1.000000	32	70	0	104	0	2.364763e-01	1	2	0	104	5
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	30	46	0	78	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		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.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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)			GAAACAAGACGACTTTGTGAC	0.363000	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	32	49	0	81	1	7.539309e-01	5	1	0	81	5
PIK3CA	5290	broad.mit.edu	37	3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178916936G>A	ENST00000263967.3	+	2	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	20	41	0	69	108	PI3K-ABD.				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.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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)			GTAGGCAACCGTGAAGAAAAG	0.338000		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	21	47	0	75	1	4.973693e-01	2	3	0	75	5
KCNMB3	27094	broad.mit.edu	37	3	178968869	178968869	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:178968869T>C	ENST00000314235.5	-	1	534	c.23A>G	c.(22-24)gAa>gGa	p.E8G	KCNMB3_ENST00000485523.1_Intron|KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000349697.2_Intron|KCNMB3_ENST00000392685.2_5'UTR	NM_014407.3	NP_055222.3	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	23	43	0	91	8					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			AAATCCCAGTTCAGAGCTTGG	0.403000													1	1	1	1	1	1	1.000000	26	46	0	97	0	0	1	0	0	97	5
ZNF639	51193	broad.mit.edu	37	3	179051980	179051980	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:179051980A>G	ENST00000326361.3	+	7	1673	c.1228A>G	c.(1228-1230)Aaa>Gaa	p.K410E	ZNF639_ENST00000496856.1_Missense_Mutation_p.K410E|ZNF639_ENST00000484866.1_Missense_Mutation_p.K410E	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	7	85	0	90	410	Interaction with CTNNA2.				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			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	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)			TGACTGTGGGAAAGGCTTTTC	0.323000													0	0	1	0	0	1	0.981909	7	91	0	98	1	8.992320e-01	9	47	0	98	1
ACTL6A	86	broad.mit.edu	37	3	179294470	179294470	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:179294470G>T	ENST00000429709.2	+	7	847	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	ACTL6A_ENST00000450518.2_Nonsense_Mutation_p.E170*|ACTL6A_ENST00000392662.1_Nonsense_Mutation_p.E170*|ACTL6A_ENST00000467615.1_3'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	22	56	0	80	212					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			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	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)			ACTCTTCCAAGAAATGAATAT	0.378000													1	1	1	1	1	1	1.000000	22	61	0	86	1	9.999967e-01	4	64	0	86	5
TTC14	151613	broad.mit.edu	37	3	180324343	180324343	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:180324343G>T	ENST00000412756.2	+	9	1193	c.1124G>T	c.(1123-1125)aGa>aTa	p.R375I	TTC14_ENST00000382584.4_Missense_Mutation_p.R375I|TTC14_ENST00000296015.4_Missense_Mutation_p.R375I	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	38	64	0	89	375							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CCAACTCACAGAAATGCAAGA	0.378000													1	1	1	1	1	1	1.000000	42	68	0	99	0	9.975925e-01	0	19	0	99	5
CCDC39	339829	broad.mit.edu	37	3	180334346	180334346	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:180334346T>C	ENST00000442201.2	-	18	2663	c.2544A>G	c.(2542-2544)gaA>gaG	p.E848E	CCDC39_ENST00000273654.4_3'UTR|TTC14_ENST00000382584.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	4	14	0	17	848					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTCAGTATTTTCTTCTATGA	0.284000													1	0	1	1	1	1	0.897419	4	16	0	20	0	1.432806e-01	0	3	0	20	4
ATP11B	23200	broad.mit.edu	37	3	182591616	182591616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:182591616C>T	ENST00000323116.5	+	19	2325	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	17	30	0	48	689					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			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	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)			AGATAAAGTTCGAGAAACTAT	0.323000													1	1	1	1	1	1	0.999998	19	33	0	54	0	7.047890e-01	0	6	0	54	5
MCF2L2	23101	broad.mit.edu	37	3	182925518	182925518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:182925518G>A	ENST00000328913.3	-	23	2887	c.2590C>T	c.(2590-2592)Cga>Tga	p.R864*	MCF2L2_ENST00000473233.1_Nonsense_Mutation_p.R864*	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	20	44	0	67	864	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	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)			GGTTTAAATCGAATCAAATCC	0.438000													1	1	1	1	1	1	0.999999	20	47	0	72	0	0	0	0	0	72	5
KLHL24	54800	broad.mit.edu	37	3	183368270	183368270	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:183368270C>A	ENST00000454652.1	+	4	512	c.126C>A	c.(124-126)ttC>ttA	p.F42L	KLHL24_ENST00000242810.6_Missense_Mutation_p.F42L|KLHL24_ENST00000476808.1_Missense_Mutation_p.F42L			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	20	54	0	72	42						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	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)			TTTTTGACTTCTCTTCAGGAT	0.408000													1	1	1	1	1	1	0.999999	20	58	0	81	1	6.515089e-01	2	6	0	81	5
YEATS2	55689	broad.mit.edu	37	3	183479328	183479328	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:183479328C>T	ENST00000305135.5	+	14	1885	c.1690C>T	c.(1690-1692)Ctt>Ttt	p.L564F		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	50	86	0	117	564					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	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)			TATGCCACCTCTTTGCCCAAT	0.413000													1	1	1	1	1	1	1.000000	55	96	0	137	1	9.998087e-01	16	11	0	137	5
ECE2	9718	broad.mit.edu	37	3	183995240	183995240	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:183995240T>C	ENST00000402825.3	+	4	818	c.818T>C	c.(817-819)cTg>cCg	p.L273P	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.L126P|ECE2_ENST00000404464.3_Missense_Mutation_p.L155P|ECE2_ENST00000357474.5_Missense_Mutation_p.L201P	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	20	33	0	58	273	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			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGCCATACTGAAGCACCTG	0.602000													1	1	1	1	1	1	1.000000	21	38	0	61	0	0	0	0	0	61	5
MAGEF1	64110	broad.mit.edu	37	3	184428893	184428893	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:184428893G>T	ENST00000317897.3	-	1	943	c.717C>A	c.(715-717)ttC>ttA	p.F239L		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	19	45	0	92	239	MAGE.									breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	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)			GACCCCAAGAGAATTCATATT	0.507000													1	1	1	1	1	1	0.999997	19	47	0	97	1	1	65	112	0	97	5
VPS8	23355	broad.mit.edu	37	3	184542494	184542494	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:184542494A>C	ENST00000437079.3	+	2	245	c.74A>C	c.(73-75)aAg>aCg	p.K25T	VPS8_ENST00000424463.2_Missense_Mutation_p.K25T|VPS8_ENST00000436792.2_Missense_Mutation_p.K25T|VPS8_ENST00000446204.2_Missense_Mutation_p.K25T|VPS8_ENST00000287546.4_Missense_Mutation_p.K25T	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	8	44	0	31	25							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	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)			GAGCTGAATAAGTCTTTCAAT	0.358000													1	1	1	1	1	1	0.991225	8	47	0	34	0	0	0	0	0	34	5
TMEM41A	90407	broad.mit.edu	37	3	185214663	185214663	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:185214663C>T	ENST00000421852.1	-	2	321	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Missense_Mutation_p.A76T	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	14	13	0	15	76						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TAGAGGTAGGCGCCGCAGAAG	0.587000													0	1	1	1	1	1	0.999998	17	13	0	17	1	9.999997e-01	16	19	0	17	4
TRA2B	6434	broad.mit.edu	37	3	185643396	185643396	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:185643396G>A	ENST00000453386.2	-	3	464	c.189C>T	c.(187-189)agC>agT	p.S63S	TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	15	31	0	77	63	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GCCTTCGGGAGCTTCTTCTGG	0.458000													1	1	1	1	1	1	0.999992	17	32	0	88	1	1	152	169	0	88	5
DGKG	1608	broad.mit.edu	37	3	186024714	186024714	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:186024714G>A	ENST00000265022.3	-	3	659	c.120C>T	c.(118-120)agC>agT	p.S40S	DGKG_ENST00000382164.4_Silent_p.S40S|DGKG_ENST00000544847.1_Silent_p.S40S|DGKG_ENST00000344484.4_Silent_p.S40S	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	21	28	0	53	40					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(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	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)	ATTGTTTGAGGCTCCCACCCT	0.383000													1	1	1	1	1	1	1.000000	21	31	0	61	0	0	0	0	0	61	5
AHSG	197	broad.mit.edu	37	3	186331076	186331076	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:186331076A>C	ENST00000411641.2	+	1	365	c.146A>C	c.(145-147)aAt>aCt	p.N49T	AHSG_ENST00000273784.5_Missense_Mutation_p.N49T			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	16	37	0	52	49	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			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GACTACATCAATCAAAACCTT	0.478000													1	1	1	1	1	1	0.999989	17	40	0	59	0	0	0	0	0	59	5
KNG1	3827	broad.mit.edu	37	3	186460097	186460097	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:186460097G>A	ENST00000265023.4	+	10	2124	c.1912G>A	c.(1912-1914)Gat>Aat	p.D638N	RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	28	46	0	84	638					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			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	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)	TTATTATTTCGATCTCACTGA	0.373000													1	1	1	1	1	1	1.000000	31	50	0	89	0	0	0	0	0	89	5
RTP4	64108	broad.mit.edu	37	3	187089081	187089081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:187089081C>T	ENST00000259030.2	+	2	771	c.661C>T	c.(661-663)Cga>Tga	p.R221*		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	10	44	0	35	221					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGGGCCCAGTCGAGACCCAGA	0.448000													1	1	1	1	1	1	0.998905	11	45	0	42	1	9.998426e-01	19	56	0	42	5
BCL6	604	broad.mit.edu	37	3	187451396	187451396	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:187451396T>C	ENST00000406870.2	-	3	452	c.86A>G	c.(85-87)gAc>gGc	p.D29G	BCL6_ENST00000450123.2_Missense_Mutation_p.D29G|RP11-211G3.3_ENST00000449623.1_Missense_Mutation_p.S72P|BCL6_ENST00000232014.4_Missense_Mutation_p.D29G	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	42	96	0	137	29					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGTCAAGATGTCTCGACTCCG	0.512000			T, Mis	IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3	NHL, CLL								1	1	1	1	0	1	1.000000	46	106	0	153	1	9.945508e-01	8	14	0	153	4
IL1RAP	0	broad.mit.edu	37	3	190363530	190363530	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:190363530C>T	ENST00000412504.2	+	10	1496	c.1244C>T	c.(1243-1245)gCg>gTg	p.A415V	IL1RAP_ENST00000439062.1_Missense_Mutation_p.A415V|IL1RAP_ENST00000447382.1_Missense_Mutation_p.A415V|IL1RAP_ENST00000317757.3_Missense_Mutation_p.A415V|IL1RAP_ENST00000072516.3_Missense_Mutation_p.A415V|IL1RAP_ENST00000443369.2_Missense_Mutation_p.A415V			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	15	18	0	22	415	TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	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)		GCAAGGAATGCGGAAGAAGAA	0.388000													1	1	1	1	1	1	0.999989	16	20	0	24	1	9.613176e-01	5	5	0	24	5
OSTN	344901	broad.mit.edu	37	3	190936632	190936632	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:190936632G>T	ENST00000445281.1	+	3	266	c.199G>T	c.(199-201)Gaa>Taa	p.E67*	OSTN_ENST00000339051.1_Nonsense_Mutation_p.E67*|OSTN-AS1_ENST00000430375.1_RNA			P61366	OSTN_HUMAN	osteocrin	13	30	0	50	67					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		GCTTCTTGATGAATTGGTGTC	0.453000													1	1	1	1	1	1	0.999803	13	30	0	51	0	0	0	0	0	51	5
MB21D2	151963	broad.mit.edu	37	3	192517117	192517117	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:192517117G>T	ENST00000392452.2	-	2	854	c.534C>A	c.(532-534)ttC>ttA	p.F178L		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	35	37	0	57	178										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TAGGTGAGAAGAAGTAGTTGG	0.463000													1	1	1	1	1	1	1.000000	35	39	0	59	0	2.276145e-01	0	2	0	59	5
ATP13A5	344905	broad.mit.edu	37	3	193049090	193049090	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:193049090T>G	ENST00000342358.4	-	12	1400	c.1283A>C	c.(1282-1284)aAa>aCa	p.K428T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	15	23	0	43	428					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	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)		CACAGTATCTTTTGGAGGAAC	0.542000													1	1	1	1	1	1	0.999986	16	24	0	47	0	0	0	0	0	47	5
ATP13A5	344905	broad.mit.edu	37	3	193052738	193052738	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:193052738C>T	ENST00000342358.4	-	10	1211	c.1094G>A	c.(1093-1095)cGa>cAa	p.R365Q		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	24	54	0	74	365					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	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)		AACGACTGCTCGTACAGGCCC	0.433000													1	1	0	1	1	1	1.000000	25	61	0	77	0	0	0	0	0	77	4
ATP13A4	84239	broad.mit.edu	37	3	193207521	193207521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:193207521C>A	ENST00000342695.4	-	7	1058	c.736G>T	c.(736-738)Gag>Tag	p.E246*	ATP13A4_ENST00000295548.3_Nonsense_Mutation_p.E246*|ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.E246*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	18	83	0	60	246					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	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)		AAACTCACCTCTCTGAGATCA	0.318000													1	1	1	1	1	1	0.999995	19	92	0	65	0	0	0	0	0	65	5
OPA1	4976	broad.mit.edu	37	3	193332780	193332780	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:193332780C>T	ENST00000361510.2	+	2	535	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	OPA1_ENST00000392438.3_Missense_Mutation_p.R101C|OPA1_ENST00000361715.2_Missense_Mutation_p.R101C|OPA1_ENST00000361150.2_Missense_Mutation_p.R101C|OPA1_ENST00000361828.2_Missense_Mutation_p.R101C|OPA1_ENST00000361908.3_Missense_Mutation_p.R101C|OPA1_ENST00000487986.1_3'UTR	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	18	34	0	32	101					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			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	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)		CTTAAAACTTCGCTATCTCAT	0.413000													1	1	1	1	1	1	0.999999	20	38	0	33	1	9.996813e-01	13	18	0	33	5
APOD	347	broad.mit.edu	37	3	195300766	195300766	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:195300766G>T	ENST00000343267.3	-	3	561	c.200C>A	c.(199-201)tCa>tAa	p.S67*		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	6	61	0	75	67					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	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)		TTCCATTAGTGAGTAGTTGGC	0.512000													1	0	1	1	1	1	0.982516	7	62	0	79	0	6.640831e-01	0	21	0	79	4
MUC4	4585	broad.mit.edu	37	3	195481210	195481210	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:195481210C>T	ENST00000463781.3	-	19	15661	c.15202G>A	c.(15202-15204)Ggc>Agc	p.G5068S	MUC4_ENST00000349607.4_Missense_Mutation_p.G781S|MUC4_ENST00000346145.4_Missense_Mutation_p.G832S|MUC4_ENST00000475231.1_Missense_Mutation_p.G5016S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	6	55	0	74	1825					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	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)		CAGTAGCGGCCGAAGGTGCCC	0.657000													1	0	1	1	1	1	0.967542	6	56	0	79	0	3.002892e-01	1	9	0	79	4
RNF168	165918	broad.mit.edu	37	3	196199276	196199276	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:196199276G>A	ENST00000318037.3	-	6	1724	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	39	64	0	78	377					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			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	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)		CAGTAGGCACGACTCTTCATT	0.443000													1	1	1	1	1	1	1.000000	44	68	0	81	1	9.960809e-01	7	10	0	81	5
SENP5	205564	broad.mit.edu	37	3	196650379	196650379	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr3:196650379C>A	ENST00000323460.5	+	7	2228	c.1979C>A	c.(1978-1980)tCa>tAa	p.S660*	SENP5_ENST00000419026.1_Nonsense_Mutation_p.S150*|SENP5_ENST00000445299.2_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	12	40	0	38	660	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	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)		CGAATTATTTCATTTTATGAT	0.333000													1	1	1	1	1	1	0.999753	13	42	0	39	1	8.870446e-01	6	9	0	39	5
ZNF721	170960	broad.mit.edu	37	4	435658	435658	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:435658T>C	ENST00000338977.5	-	2	2610	c.2562A>G	c.(2560-2562)acA>acG	p.T854T	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.T866T					zinc finger protein 721	20	28	1	43											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ATTCTCCACATGTGTAGGGTT	0.423000													1	0	1	1	0	1	0.999861	21	28	1	44	1	3.995987e-01	2	1	1	44	3
ZNF721	170960	broad.mit.edu	37	4	436594	436594	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:436594C>A	ENST00000338977.5	-	2	1674	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E554D					zinc finger protein 721	38	67	1	86											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGTAGGGTTTCTCTCCAGTAT	0.403000													1	0	1	1	1	1	1.000000	41	74	1	90	1	9.140123e-01	4	6	1	90	4
PDE6B	5158	broad.mit.edu	37	4	654306	654306	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:654306C>A	ENST00000255622.6	+	12	1561	c.1518C>A	c.(1516-1518)ttC>ttA	p.F506L	PDE6B_ENST00000496514.1_Missense_Mutation_p.F506L|PDE6B_ENST00000429163.2_Missense_Mutation_p.F227L	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	15	23	0	58	506					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			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AATTCCACTTCTCTGACCTGG	0.592000													1	1	1	1	1	1	0.999967	15	25	0	60	0	1.506091e-01	1	1	0	60	5
UVSSA	57654	broad.mit.edu	37	4	1345579	1345579	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:1345579A>C	ENST00000389851.4	+	4	953	c.506A>C	c.(505-507)aAa>aCa	p.K169T	UVSSA_ENST00000507531.1_Missense_Mutation_p.K169T|UVSSA_ENST00000511216.1_Missense_Mutation_p.K169T	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	18	53	0	102	169																	CACTTGGATAAAATTTATCAA	0.517000											OREG0016033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999999	20	56	0	116	1	1.818160e-01	2	1	0	116	5
SLBP	7884	broad.mit.edu	37	4	1698041	1698041	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:1698041T>G	ENST00000489418.1	-	6	883	c.517A>C	c.(517-519)Aat>Cat	p.N173H	SLBP_ENST00000488267.1_Missense_Mutation_p.N138H|SLBP_ENST00000429429.2_Missense_Mutation_p.N134H|SLBP_ENST00000318386.4_Missense_Mutation_p.N180H	NM_006527.2	NP_006518.1	Q14493	SLBP_HUMAN	stem-loop binding protein	28	97	0	99	173	RNA-binding.				DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			TTAAATTTATTAGGGGTCTTG	0.458000													1	1	1	1	1	1	1.000000	30	105	0	107	1	1	58	167	0	107	5
POLN	353497	broad.mit.edu	37	4	2210083	2210083	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:2210083T>G	ENST00000511885.2	-	5	698	c.345A>C	c.(343-345)tcA>tcC	p.S115S	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Silent_p.S115S			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	28	48	0	84	115					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTAAACAACTTGAAAGAGTCA	0.398000								DNA polymerases (catalytic subunits)					1	1	1	1	1	1	1.000000	33	49	0	98	0	0	0	0	0	98	5
HAUS3	79441	broad.mit.edu	37	4	2242595	2242595	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:2242595A>C	ENST00000243706.4	-	2	308	c.79T>G	c.(79-81)Ttt>Gtt	p.F27V	POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Missense_Mutation_p.F27V|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.F27V	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	8	68	0	78	27					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AACCAGTCAAAGTCTTCTCCA	0.373000													1	0	1	1	1	1	0.990617	8	72	0	81	1	5.780053e-01	2	16	0	81	4
GRK4	2868	broad.mit.edu	37	4	3011413	3011413	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:3011413T>C	ENST00000398052.4	+	7	918	c.575T>C	c.(574-576)gTt>gCt	p.V192A	GRK4_ENST00000345167.6_Missense_Mutation_p.V160A|GRK4_ENST00000504933.1_Missense_Mutation_p.V192A|GRK4_ENST00000398051.4_Missense_Mutation_p.V160A	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	8	54	0	76	192	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CATTACAGAGTTCTAGGAAAA	0.443000													1	1	1	1	1	1	0.995272	9	60	0	94	0	0	0	1	0	94	5
HTT	3064	broad.mit.edu	37	4	3231768	3231768	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:3231768T>G	ENST00000355072.5	+	60	8409	c.8265_splice	c.e60+1	p.M2755_splice	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	4	63	0	62	2755					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			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTCCTTGGGATGGTAAGTGAC	0.627000													1	0	1	1	0	1	0.939716	5	71	0	71	1	8.876740e-01	5	54	0	71	3
HGFAC	3083	broad.mit.edu	37	4	3449289	3449289	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:3449289A>C	ENST00000382774.3	+	11	1541	c.1426A>C	c.(1426-1428)Acc>Ccc	p.T476P	HGFAC_ENST00000511533.1_Missense_Mutation_p.T483P	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	123	256	0	389	476	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGTGACGCAGACCTTCGGCAT	0.647000													1	1	1	1	1	1	1.000000	135	288	0	425	1	5.103414e-01	3	2	0	425	5
CYTL1	54360	broad.mit.edu	37	4	5018861	5018861	+	Splice_Site	SNP	C	C	T	rs144723757		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:5018861C>T	ENST00000307746.4	-	2	225		c.e2+1			NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	15	30	0	41						signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AACCCTCTTACGTGTATGTCC	0.572000													1	1	1	1	1	1	0.999991	17	33	0	48	0	0	0	0	0	48	5
EVC2	132884	broad.mit.edu	37	4	5564756	5564756	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:5564756A>T	ENST00000310917.2	-	22	4237	c.3506T>A	c.(3505-3507)aTt>aAt	p.I1169N	EVC2_ENST00000344938.1_Intron|EVC2_ENST00000344408.5_Missense_Mutation_p.I1249N	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	39	96	0	128	1249						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGTTCGCCAATGGGCTCCAG	0.448000													1	1	1	1	1	1	1.000000	42	101	0	139	0	2.133979e-01	1	2	0	139	5
C4orf50	389197	broad.mit.edu	37	4	5961108	5961108	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:5961108T>G	ENST00000531445.1	-	7	2293	c.2247A>C	c.(2245-2247)gaA>gaC	p.E749D	C4orf50_ENST00000324058.5_Missense_Mutation_p.E275D			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	38	61	0	108	275										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CCTATTACATTTCTAACTCCA	0.448000													1	1	1	1	1	1	1.000000	42	67	0	121	0	0	0	0	0	121	5
KIAA0232	9778	broad.mit.edu	37	4	6843914	6843914	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:6843914C>T	ENST00000307659.5	+	4	807	c.352C>T	c.(352-354)Cga>Tga	p.R118*	KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.R118*	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	23	43	0	47	118							ATP binding	p.R118*(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CCAGTGTCTTCGATCTGCTTC	0.348000													1	1	1	1	1	1	1.000000	23	44	0	50	0	5.621400e-01	1	4	0	50	5
AFAP1	60312	broad.mit.edu	37	4	7844978	7844978	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:7844978T>C	ENST00000420658.1	-	5	706	c.434A>G	c.(433-435)gAg>gGg	p.E145G	AFAP1_ENST00000382543.3_Missense_Mutation_p.E145G|AFAP1_ENST00000360265.4_Missense_Mutation_p.E145G|AFAP1_ENST00000358461.2_Missense_Mutation_p.E145G	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	8	25	0	39	145						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CATGGAGGCCTCCTCGGAGGG	0.562000													1	1	1	1	1	1	0.992400	8	26	0	40	1	8.315970e-01	3	10	0	40	5
CLNK	116449	broad.mit.edu	37	4	10515153	10515153	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:10515153C>T	ENST00000226951.6	-	16	1080	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	CLNK_ENST00000515667.1_Missense_Mutation_p.E19K	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	4	12	0	12	281					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AGTATATTTTCGTGAGGGCTG	0.473000													0	0	1	0	1	1	0.947080	5	14	0	13	0	0	0	0	0	13	2
BOD1L1	259282	broad.mit.edu	37	4	13603706	13603706	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:13603706G>A	ENST00000040738.5	-	10	4953	c.4818C>T	c.(4816-4818)ttC>ttT	p.F1606F		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	21	41	0	73	1606							DNA binding										TGCTTGTGAGGAAGGTTTCAC	0.502000													1	1	1	1	1	1	1.000000	23	42	0	76	0	2.958354e-01	0	3	0	76	5
BOD1L1	259282	broad.mit.edu	37	4	13605283	13605283	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:13605283C>A	ENST00000040738.5	-	10	3376	c.3241G>T	c.(3241-3243)Gaa>Taa	p.E1081*		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	12	40	0	40	1081							DNA binding										TTGGCCATTTCTTGTGACAAG	0.418000													1	1	1	1	1	1	0.999478	12	42	0	41	0	0	0	1	0	41	5
FBXL5	26234	broad.mit.edu	37	4	15642453	15642453	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:15642453A>C	ENST00000341285.3	-	3	478	c.354T>G	c.(352-354)gcT>gcG	p.A118A	FBXL5_ENST00000382358.4_5'UTR|FBXL5_ENST00000412094.2_Silent_p.A101A	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	7	27	0	41	118	Hemerythrin-like.				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			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CTCTTGTAAAAGCCTCCAATC	0.279000													1	0	1	1	1	1	0.996183	9	28	0	47	1	9.984286e-01	22	22	0	47	4
FBXL5	26234	broad.mit.edu	37	4	15646324	15646324	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:15646324T>G	ENST00000341285.3	-	2	216	c.92A>C	c.(91-93)aAa>aCa	p.K31T	FBXL5_ENST00000382358.4_5'UTR|FBXL5_ENST00000412094.2_Intron	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	13	12	0	32	31	Hemerythrin-like.				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			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AAAATTGGTTTTAGAAAGCTG	0.303000													1	1	1	1	1	1	0.999969	14	12	0	33	1	9.999995e-01	16	23	0	33	5
LAP3	51056	broad.mit.edu	37	4	17586709	17586709	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:17586709T>G	ENST00000226299.4	+	6	928	c.654T>G	c.(652-654)atT>atG	p.I218M	LAP3_ENST00000606142.1_Missense_Mutation_p.I187M	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	4	106	0	87	218					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TTGCTGAAATTATTGAGAAGA	0.473000													0	0	1	0	0	1	0.938834	5	120	0	101	1	9.815789e-01	10	177	0	101	1
DCAF16	54876	broad.mit.edu	37	4	17805494	17805494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:17805494G>A	ENST00000382247.1	-	3	1331	c.271C>T	c.(271-273)Cga>Tga	p.R91*	DCAF16_ENST00000536863.1_Nonsense_Mutation_p.R91*	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	53	89	0	138	91						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						CCTATCTCTCGAAGTATATGG	0.448000													1	1	1	1	1	1	1.000000	58	96	0	146	1	9.999401e-01	20	9	0	146	5
NCAPG	64151	broad.mit.edu	37	4	17824682	17824682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:17824682G>T	ENST00000251496.2	+	8	1371	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	11	22	0	23	399					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GATGACAAAAGAATTCATAGG	0.323000													1	1	1	1	1	1	0.999250	11	22	0	24	0	9.892661e-01	1	19	0	24	5
SLIT2	9353	broad.mit.edu	37	4	20525762	20525762	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:20525762G>T	ENST00000504154.1	+	14	1652	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	SLIT2_ENST00000273739.5_Missense_Mutation_p.R471I|SLIT2_ENST00000503823.1_Missense_Mutation_p.R467I|SLIT2_ENST00000503837.1_Missense_Mutation_p.R471I	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	45	124	0	210	467	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCAAACAAAAGAATTGGACAG	0.478000													1	1	1	1	1	1	1.000000	49	140	0	240	0	6.881477e-02	1	1	0	240	5
KCNIP4	80333	broad.mit.edu	37	4	20734383	20734383	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:20734383A>C	ENST00000382148.3	-	6	824	c.488T>G	c.(487-489)aTa>aGa	p.I163R	KCNIP4_ENST00000509207.1_Missense_Mutation_p.I126R|KCNIP4_ENST00000359001.5_Missense_Mutation_p.I126R|KCNIP4_ENST00000382150.4_Missense_Mutation_p.I167R|KCNIP4_ENST00000382152.2_Missense_Mutation_p.I188R|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000447367.2_Missense_Mutation_p.I154R	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	9	19	0	32	188	EF-hand 3.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CATATCGTATATTGCTTTCAT	0.373000													1	1	1	1	1	1	0.996615	9	21	0	35	1	9.884586e-01	7	6	0	35	5
KCNIP4	80333	broad.mit.edu	37	4	20852208	20852208	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:20852208A>C	ENST00000382148.3	-	2	507	c.171T>G	c.(169-171)ttT>ttG	p.F57L	KCNIP4_ENST00000509207.1_Missense_Mutation_p.F20L|KCNIP4_ENST00000359001.5_Missense_Mutation_p.F20L|KCNIP4_ENST00000382150.4_Missense_Mutation_p.F61L|KCNIP4_ENST00000382152.2_Missense_Mutation_p.F82L|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000447367.2_Missense_Mutation_p.F48L	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	29	47	0	89	82						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				CTTTCTTGGTAAATTTGCTCT	0.448000													1	1	1	1	1	1	1.000000	29	49	0	90	1	9.901543e-01	11	5	0	90	5
GPR125	166647	broad.mit.edu	37	4	22390389	22390389	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:22390389C>T	ENST00000334304.5	-	19	3174	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	29	43	0	67	969					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.E969K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGATTTATTTCGCCATTTTCA	0.438000													1	1	1	1	1	1	1.000000	30	45	0	74	1	9.999999e-01	20	31	0	74	5
PPARGC1A	10891	broad.mit.edu	37	4	23815615	23815615	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:23815615T>C	ENST00000264867.2	-	8	1610	c.1491A>G	c.(1489-1491)ctA>ctG	p.L497L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	34	56	0	116	497					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			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TAAACATAGGTAGTTTGGAGA	0.453000													1	1	1	1	1	1	1.000000	38	62	0	128	1	8.082152e-01	4	3	0	128	5
ANAPC4	29945	broad.mit.edu	37	4	25418156	25418156	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:25418156T>C	ENST00000315368.3	+	27	2153	c.2011T>C	c.(2011-2013)Ttg>Ctg	p.L671L	ANAPC4_ENST00000510092.1_Silent_p.L672L	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	16	43	0	46	671					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			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				CCAGCTGCCTTTGTCTTTAGT	0.358000													1	1	1	1	1	1	0.999994	18	47	0	56	1	9.999941e-01	32	32	0	56	5
CCKAR	886	broad.mit.edu	37	4	26483533	26483533	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:26483533G>A	ENST00000295589.3	-	5	1208	c.1014C>T	c.(1012-1014)taC>taT	p.Y338Y		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	32	73	0	103	338					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.Y338Y(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGCGGTGTCGTAGGCCCGCC	0.597000													1	1	1	1	1	1	1.000000	35	74	0	107	0	0	0	0	0	107	5
CCKAR	886	broad.mit.edu	37	4	26487334	26487334	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:26487334G>T	ENST00000295589.3	-	3	745	c.551C>A	c.(550-552)cCt>cAt	p.P184H		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	20	31	0	55	184					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTTGGTAAAAGGCACCAAGTT	0.433000													1	1	1	1	1	1	1.000000	21	32	0	60	0	0	0	0	0	60	5
CCKAR	886	broad.mit.edu	37	4	26487340	26487340	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:26487340A>G	ENST00000295589.3	-	3	739	c.545T>C	c.(544-546)tTg>tCg	p.L182S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	16	34	0	57	182					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AAAAGGCACCAAGTTGCTATA	0.458000													1	1	1	1	1	1	0.999978	16	36	0	61	0	0	0	0	0	61	5
PGM2	55276	broad.mit.edu	37	4	37831647	37831647	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:37831647G>A	ENST00000381967.4	+	2	243	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	22	27	0	63	48					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GAAGAACTACGAAAATGTTTT	0.433000													1	1	1	1	1	1	1.000000	24	29	0	71	1	9.999153e-01	11	14	0	71	5
PGM2	55276	broad.mit.edu	37	4	37851855	37851855	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:37851855A>G	ENST00000381967.4	+	12	1563	c.1463A>G	c.(1462-1464)gAa>gGa	p.E488G	PGM2_ENST00000537241.1_Missense_Mutation_p.E328G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	5	15	0	20	488			E -> D (in dbSNP:rs10001580).		glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CATGATCAAGAAACCATTAAG	0.313000													1	0	1	1	1	1	0.945274	5	18	0	24	1	9.980040e-01	28	31	0	24	4
TBC1D1	23216	broad.mit.edu	37	4	38046077	38046077	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38046077C>A	ENST00000261439.4	+	9	1863	c.1508C>A	c.(1507-1509)tCt>tAt	p.S503Y	TBC1D1_ENST00000508802.1_Missense_Mutation_p.S503Y	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	20	50	0	71	503						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GCAAAGAGATCTTTAACAGAG	0.368000													1	1	1	1	1	1	0.999999	21	54	0	74	1	9.999832e-01	10	44	0	74	5
TLR10	81793	broad.mit.edu	37	4	38775278	38775278	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38775278G>T	ENST00000308973.4	-	4	2539	c.1934C>A	c.(1933-1935)tCt>tAt	p.S645Y	TLR10_ENST00000361424.2_Missense_Mutation_p.S645Y|TLR10_ENST00000508334.1_Missense_Mutation_p.S645Y|TLR10_ENST00000506111.1_Missense_Mutation_p.S645Y	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	16	24	0	36	645	TIR.				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CACCCACAGAGAATCATGTTC	0.403000													1	1	1	1	1	1	0.999993	17	27	0	39	0	0	0	0	0	39	5
TLR6	10333	broad.mit.edu	37	4	38829644	38829644	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38829644G>T	ENST00000436693.2	-	2	1570	c.1451C>A	c.(1450-1452)tCt>tAt	p.S484Y	TLR6_ENST00000381950.1_Missense_Mutation_p.S484Y	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	38	55	0	112	484					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			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTCAGTTAAAGAATTGAAAGC	0.408000													1	1	1	1	1	1	1.000000	39	55	0	100	0	0	0	0	0	100	5
TLR6	10333	broad.mit.edu	37	4	38829734	38829734	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:38829734A>G	ENST00000436693.2	-	2	1480	c.1361T>C	c.(1360-1362)gTa>gCa	p.V454A	TLR6_ENST00000381950.1_Missense_Mutation_p.V454A	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	38	56	0	125	454					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			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGATCAAGTACCTTGATCCT	0.363000													1	1	1	1	1	1	1.000000	42	58	0	130	0	0	0	0	0	130	5
RFC1	5981	broad.mit.edu	37	4	39313115	39313115	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:39313115G>A	ENST00000381897.1	-	12	1571	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	RFC1_ENST00000349703.2_Missense_Mutation_p.R480W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	15	19	0	47	480	BRCT.				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			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCATAGTCCGAATCAGATTC	0.363000													1	1	1	1	1	1	0.999998	18	22	0	57	1	9.999858e-01	13	20	0	57	5
N4BP2	55728	broad.mit.edu	37	4	40103707	40103707	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:40103707T>C	ENST00000261435.6	+	4	658	c.242T>C	c.(241-243)aTg>aCg	p.M81T		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	15	30	0	34	81	CUE.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GAAAATGCTATGGATTGTCTA	0.303000													1	1	0	1	1	1	0.999956	15	33	0	38	0	0	0	0	0	38	4
LIMCH1	22998	broad.mit.edu	37	4	41621302	41621302	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:41621302G>A	ENST00000313860.7	+	8	834	c.780G>A	c.(778-780)ccG>ccA	p.P260P	LIMCH1_ENST00000514096.1_Silent_p.P113P|LIMCH1_ENST00000509638.1_Silent_p.P101P|LIMCH1_ENST00000513024.1_Silent_p.P101P|LIMCH1_ENST00000511496.1_Silent_p.P101P|LIMCH1_ENST00000512632.1_Silent_p.P260P|LIMCH1_ENST00000512946.1_Silent_p.P260P|LIMCH1_ENST00000509277.1_Silent_p.P106P|LIMCH1_ENST00000503057.1_Silent_p.P101P|LIMCH1_ENST00000512820.1_Silent_p.P260P|LIMCH1_ENST00000508501.1_Silent_p.P260P|LIMCH1_ENST00000396595.3_Silent_p.P106P|LIMCH1_ENST00000381753.4_Silent_p.P106P|LIMCH1_ENST00000509454.1_Silent_p.P108P	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	97	148	0	210	260					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ATGGTGAGCCGAAATCAGCAG	0.532000													1	0	1	1	1	1	1.000000	107	156	0	226	1	9.999323e-01	11	14	0	226	4
LIMCH1	22998	broad.mit.edu	37	4	41691559	41691559	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:41691559G>T	ENST00000313860.7	+	25	3084	c.3030G>T	c.(3028-3030)aaG>aaT	p.K1010N	LIMCH1_ENST00000514096.1_Missense_Mutation_p.K824N|LIMCH1_ENST00000513024.1_Missense_Mutation_p.K837N|LIMCH1_ENST00000511496.1_Missense_Mutation_p.K824N|LIMCH1_ENST00000512632.1_Missense_Mutation_p.K907N|LIMCH1_ENST00000512946.1_Missense_Mutation_p.K984N|LIMCH1_ENST00000509277.1_Missense_Mutation_p.K843N|LIMCH1_ENST00000503057.1_Missense_Mutation_p.K1394N|LIMCH1_ENST00000512820.1_Missense_Mutation_p.K996N|LIMCH1_ENST00000508501.1_Missense_Mutation_p.K983N|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000396595.3_Missense_Mutation_p.K829N|LIMCH1_ENST00000381753.4_Missense_Mutation_p.K817N	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	6	26	0	44	1010					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TAAGTGGAAAGAAGCTGTGCT	0.388000													1	0	1	1	0	1	0.969841	6	27	0	47	1	9.887490e-01	8	37	0	47	3
DCAF4L1	285429	broad.mit.edu	37	4	41984734	41984734	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:41984734G>A	ENST00000333141.5	+	1	1022	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	40	81	0	108	309										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						AAGGCAGTACGAAGGTCACGT	0.532000													1	1	1	1	1	1	1.000000	41	86	0	118	0	0	1	0	0	118	5
SLC30A9	10463	broad.mit.edu	37	4	42024887	42024887	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:42024887G>A	ENST00000264451.6	+	5	647	c.467G>A	c.(466-468)cGa>cAa	p.R156Q		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	15	25	0	42	156					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)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCAGACGACGAAGTCCCCAT	0.328000													1	1	1	1	1	1	0.999992	17	29	0	51	1	9.999858e-01	21	22	0	51	5
GRXCR1	389207	broad.mit.edu	37	4	43032511	43032511	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:43032511C>T	ENST00000399770.2	+	4	827	c.827C>T	c.(826-828)gCt>gTt	p.A276V		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	49	73	0	167	276					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			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AAGTGTACGGCTTGCAATGAA	0.443000													1	1	1	1	1	1	1.000000	54	80	0	194	0	0	0	0	0	194	5
KCTD8	386617	broad.mit.edu	37	4	44176933	44176933	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:44176933C>T	ENST00000360029.3	-	2	1579	c.1296G>A	c.(1294-1296)gaG>gaA	p.E432E		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	71	125	0	234	432						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CACTTAGCTTCTCACAGACTT	0.413000										HNSCC(17;0.042)			1	1	1	1	1	1	1.000000	76	128	0	250	0	0	0	0	0	250	5
GABRA4	2557	broad.mit.edu	37	4	46995427	46995427	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:46995427C>A	ENST00000264318.3	-	1	997	c.15G>T	c.(13-15)aaG>aaT	p.K5N	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	28	50	0	133	5					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CGGGTACCTTCTTGGCAGAAA	0.602000													1	1	1	1	1	1	1.000000	30	53	0	142	0	0	0	0	0	142	5
CNGA1	1259	broad.mit.edu	37	4	47939204	47939204	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:47939204T>G	ENST00000402813.3	-	10	1656	c.1514A>C	c.(1513-1515)aAa>aCa	p.K505T	CNGA1_ENST00000544810.1_Missense_Mutation_p.K436T|CNGA1_ENST00000358519.4_Missense_Mutation_p.K436T|CNGA1_ENST00000420489.2_Missense_Mutation_p.K436T|CNGA1_ENST00000514170.1_Missense_Mutation_p.K436T			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	9	82	0	139	436					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GTCAAACCATTTAATAACCCT	0.348000													1	1	1	1	1	1	0.997364	10	91	0	155	0	0	0	0	0	155	5
TEC	7006	broad.mit.edu	37	4	48139468	48139468	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:48139468C>A	ENST00000381501.3	-	18	2018	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	18	25	0	67	621	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TCAACTAGTTCATCTATTGTG	0.433000													1	1	1	1	1	1	0.999997	18	28	0	80	1	9.531912e-01	3	8	0	80	5
TEC	7006	broad.mit.edu	37	4	48178116	48178116	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:48178116T>G	ENST00000381501.3	-	3	383	c.226A>C	c.(226-228)Aat>Cat	p.N76H		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	19	37	0	70	76	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GGATACTTATTTTGACAGGGA	0.378000													1	1	1	1	1	1	1.000000	22	40	0	74	0	0	1	0	0	74	5
GSX2	170825	broad.mit.edu	37	4	54967832	54967832	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:54967832G>T	ENST00000326902.2	+	2	972	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_3'UTR|GSX2_ENST00000548609.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	26	116	0	131	220						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	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)			GCTGGAGAGAGAATTCTCTTC	0.552000													1	1	1	1	1	1	1.000000	28	124	0	145	0	0	0	0	0	145	5
KIT	3815	broad.mit.edu	37	4	55561832	55561832	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55561832G>A	ENST00000288135.5	+	2	319	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	26	35	0	71	74	Ig-like C2-type 1.				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	p.T74T(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	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)	TGGATGAAACGAATGAGAATA	0.458000		1	Mis, O		GIST, AML, TGCT, mastocytosis, mucosal melanoma	GIST, epithelioma	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				1	1	1	1	1	1	1.000000	29	35	0	81	0	2.103121e-01	0	2	0	81	5
KIT	3815	broad.mit.edu	37	4	55594177	55594177	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55594177C>T	ENST00000288135.5	+	13	1977	c.1879_splice	c.e13-1	p.P627_splice		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	23	48	0	87	627	Protein kinase.				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	p.P627L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	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)	CCAATTTTAGCGAGTGCCCAT	0.433000		1	Mis, O		GIST, AML, TGCT, mastocytosis, mucosal melanoma	GIST, epithelioma	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				1	1	1	1	1	1	1.000000	25	50	0	96	1	6.489731e-01	3	3	0	96	5
KIT	3815	broad.mit.edu	37	4	55602731	55602731	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55602731A>G	ENST00000288135.5	+	18	2649	c.2552A>G	c.(2551-2553)gAc>gGc	p.D851G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	29	72	0	112	851	Protein kinase.				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			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	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)	TTTGAAAGTGACGTCTGGTCC	0.408000		1	Mis, O		GIST, AML, TGCT, mastocytosis, mucosal melanoma	GIST, epithelioma	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				1	1	1	1	1	1	1.000000	34	80	0	126	1	2.202940e-01	2	1	0	126	5
KDR	3791	broad.mit.edu	37	4	55946184	55946184	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55946184A>C	ENST00000263923.4	-	30	4290	c.3995T>G	c.(3994-3996)aTt>aGt	p.I1332S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	44	82	0	135	1332					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			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	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)	TTGCACTCCAATCTCTATCAG	0.522000			Mis		NSCLC, angiosarcoma					TSP Lung(20;0.16)			1	1	1	1	1	1	1.000000	45	92	0	146	0	9.899180e-01	1	17	0	146	5
KDR	3791	broad.mit.edu	37	4	55968605	55968605	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:55968605G>T	ENST00000263923.4	-	14	2353	c.2058C>A	c.(2056-2058)gtC>gtA	p.V686V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	28	64	0	105	686	Ig-like C2-type 7.				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			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	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)	CCGTGCATGAGACTTCGATGC	0.453000			Mis		NSCLC, angiosarcoma					TSP Lung(20;0.16)			1	1	1	1	1	1	1.000000	28	67	0	110	0	4.676224e-01	0	5	0	110	5
SRD5A3	79644	broad.mit.edu	37	4	56230296	56230296	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56230296C>T	ENST00000264228.4	+	3	648	c.420C>T	c.(418-420)agC>agT	p.S140S	SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3_ENST00000514398.1_3'UTR	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	42	77	0	123	140					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			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	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)			GGCTGCACAGCTTACGAAGAC	0.468000													1	1	1	1	1	1	1.000000	45	81	0	126	1	9.999708e-01	16	17	0	126	5
SRD5A3	79644	broad.mit.edu	37	4	56233805	56233805	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56233805C>A	ENST00000264228.4	+	4	841	c.613C>A	c.(613-615)Ctt>Att	p.L205I	SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3_ENST00000514398.1_Intron|SRD5A3-AS1_ENST00000596289.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	23	42	0	52	205					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			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	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)			GTTCCATATTCTTGGGATGAT	0.408000													1	1	1	1	1	1	1.000000	25	44	0	57	1	9.998607e-01	13	13	0	57	5
EXOC1	55763	broad.mit.edu	37	4	56730415	56730415	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56730415A>G	ENST00000381295.2	+	4	626	c.278A>G	c.(277-279)cAc>cGc	p.H93R	EXOC1_ENST00000346134.7_Missense_Mutation_p.H93R|EXOC1_ENST00000349598.6_Missense_Mutation_p.H93R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	7	7	0	13	93					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTTGATTTACACTTTGAAAAA	0.289000													0	1	1	1	1	1	0.989857	7	8	0	13	1	9.953652e-01	7	11	0	13	4
EXOC1	55763	broad.mit.edu	37	4	56738059	56738059	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56738059A>G	ENST00000381295.2	+	8	1357	c.1009A>G	c.(1009-1011)Agt>Ggt	p.S337G	EXOC1_ENST00000346134.7_Missense_Mutation_p.S337G|EXOC1_ENST00000349598.6_Missense_Mutation_p.S337G	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	25	45	0	65	337					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GCAGCGATTCAGTGATTTGCG	0.413000													1	1	1	1	1	1	1.000000	31	48	0	79	1	9.999967e-01	18	21	0	79	5
CEP135	9662	broad.mit.edu	37	4	56878113	56878113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:56878113C>T	ENST00000257287.4	+	21	2888	c.2764C>T	c.(2764-2766)Cga>Tga	p.R922*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	16	42	0	53	922					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAGACATCTTCGAGAAAGAGT	0.383000													1	1	1	1	1	1	0.999988	17	44	0	58	0	8.482143e-02	0	2	0	58	5
KIAA1211	57482	broad.mit.edu	37	4	57181891	57181891	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57181891A>C	ENST00000504228.1	+	6	2328	c.2223A>C	c.(2221-2223)gaA>gaC	p.E741D	KIAA1211_ENST00000541073.1_Missense_Mutation_p.E734D|KIAA1211_ENST00000264229.6_Missense_Mutation_p.E741D			Q6ZU35	K1211_HUMAN	KIAA1211	37	75	0	126	741										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGAGCACGGAAGCTGAAAGCA	0.567000													1	1	1	1	1	1	1.000000	40	82	0	134	1	9.523146e-01	3	10	0	134	5
REST	5978	broad.mit.edu	37	4	57797479	57797479	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57797479G>T	ENST00000309042.7	+	4	2769	c.2455G>T	c.(2455-2457)Gat>Tat	p.D819Y		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	77	117	0	207	819					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			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TCTCCGAAAAGATAAAAAGGA	0.498000													1	1	1	1	1	1	1.000000	80	124	0	212	0	9.193691e-01	1	8	0	212	5
NOA1	84273	broad.mit.edu	37	4	57843010	57843010	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57843010T>G	ENST00000264230.4	-	1	1979	c.742A>C	c.(742-744)Aac>Cac	p.N248H		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	32	78	0	131	248							GTP binding										TCCACTTTGTTTCCCAGCACG	0.697000													1	1	1	1	1	1	1.000000	32	89	0	149	1	9.999653e-01	25	25	0	149	5
POLR2B	5431	broad.mit.edu	37	4	57883789	57883789	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:57883789T>G	ENST00000381227.1	+	17	2631	c.2218T>G	c.(2218-2220)Ttc>Gtc	p.F740V	POLR2B_ENST00000314595.5_Missense_Mutation_p.F740V|POLR2B_ENST00000441246.2_Missense_Mutation_p.F733V|POLR2B_ENST00000431623.2_Missense_Mutation_p.F665V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	5	15	0	39	740					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			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CATCACCAACTTCCATGTTCG	0.423000													1	0	1	1	1	1	0.945274	5	18	0	42	1	9.999032e-01	50	64	0	42	4
EPHA5	2044	broad.mit.edu	37	4	66201816	66201816	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:66201816G>A	ENST00000273854.3	-	16	3286	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	EPHA5_ENST00000511294.1_Missense_Mutation_p.R897C|EPHA5_ENST00000354839.4_Missense_Mutation_p.R874C|EPHA5_ENST00000432638.2_Missense_Mutation_p.R733C	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	12	29	0	36	896	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			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTTGGCAGACGATAGCCTTCC	0.438000										TSP Lung(17;0.13)			1	1	1	1	1	1	0.999584	12	29	0	39	0	0	0	0	0	39	5
EPHA5	2044	broad.mit.edu	37	4	66361152	66361152	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:66361152C>A	ENST00000273854.3	-	4	1620	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	EPHA5_ENST00000511294.1_Missense_Mutation_p.K340N|EPHA5_ENST00000354839.4_Missense_Mutation_p.K340N|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	45	80	0	145	340	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			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGAAATAATCCTTTTCACAGA	0.463000										TSP Lung(17;0.13)			1	1	1	1	1	1	1.000000	50	84	0	158	0	0	0	0	0	158	5
CENPC	1060	broad.mit.edu	37	4	68372634	68372634	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:68372634C>T	ENST00000273853.6	-	11	2173	c.1923G>A	c.(1921-1923)aaG>aaA	p.K641K		NM_001812.2	NP_001803.2			centromere protein C	8	24	0	34																		TATCTTCATTCTTTGAGCTTC	0.343000													1	1	1	1	1	1	0.996183	9	28	0	42	1	8.456965e-01	4	9	0	42	5
UGT2B15	7366	broad.mit.edu	37	4	69535816	69535816	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:69535816C>T	ENST00000338206.5	-	1	530	c.521G>A	c.(520-522)cGa>cAa	p.R174Q		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	14	205	0	264	174				LYSLRFSV -> VYRSRISR (in Ref. 6; AAA83406).	steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AACAGAGAATCGAAGACTGTA	0.408000													1	1	1	1	0	1	0.999887	15	224	0	282	0	1.330036e-02	0	3	0	282	4
UGT2B15	7366	broad.mit.edu	37	4	69536087	69536087	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:69536087T>G	ENST00000338206.5	-	1	259	c.250A>C	c.(250-252)Aat>Cat	p.N84H		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	52	74	0	113	84					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TCCAAATAATTTTTAGTTAAA	0.308000													1	1	1	1	1	1	1.000000	54	78	0	114	0	0	0	1	0	114	5
UGT2B10	7365	broad.mit.edu	37	4	69693266	69693266	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:69693266C>T	ENST00000265403.7	+	5	1334	c.1307_splice	c.e5+1	p.S436_splice	UGT2B10_ENST00000458688.2_Splice_Site_p.S352_splice	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	40	79	0	110	436					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AATGATCCTTCGTGAGTAGAA	0.388000													1	1	1	1	1	1	1.000000	42	82	0	91	0	0	0	0	0	91	5
UGT2B4	7363	broad.mit.edu	37	4	70346621	70346621	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:70346621C>A	ENST00000305107.6	-	6	1364	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	UGT2B4_ENST00000381096.3_Nonsense_Mutation_p.E304*|UGT2B4_ENST00000512583.1_Missense_Mutation_p.K366N|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	30	74	0	104	440					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATAGCATTCTCTTTATATCTA	0.418000													1	1	1	1	1	1	1.000000	32	76	0	108	0	0	0	1	0	108	5
AMBN	258	broad.mit.edu	37	4	71472354	71472354	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:71472354G>A	ENST00000322937.6	+	13	1354	c.1251G>A	c.(1249-1251)acG>acA	p.T417T	AMBN_ENST00000449493.2_Silent_p.T402T	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	38	70	1	94	417					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGGATACCACGATGGCCCCAA	0.512000													1	0	1	1	1	1	1.000000	39	71	1	103	0	0	0	0	1	103	4
ENAM	10117	broad.mit.edu	37	4	71507979	71507979	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:71507979C>T	ENST00000396073.3	+	9	1117	c.836C>T	c.(835-837)aCt>aTt	p.T279I	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	11	75	0	91	279					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GGACTAAACACTGGGAACAAC	0.532000													1	1	1	1	1	1	0.998702	11	76	0	94	0	0	0	0	0	94	5
GC	2638	broad.mit.edu	37	4	72631284	72631284	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:72631284G>T	ENST00000273951.8	-	4	681	c.338C>A	c.(337-339)aCc>aAc	p.T113N	GC_ENST00000513476.1_Missense_Mutation_p.T113N|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.T132N	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	29	64	0	98	113	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GCCCTCTTTGGTGCAGCACTC	0.517000													1	1	1	1	1	1	1.000000	29	70	0	105	1	9.991151e-01	17	14	0	105	5
ADAMTS3	9508	broad.mit.edu	37	4	73161417	73161417	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:73161417T>C	ENST00000286657.4	-	19	2713	c.2677A>G	c.(2677-2679)Aaa>Gaa	p.K893E		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	8	51	0	74	893	TSP type-1 2.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			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)			CTAATAGGTTTCGGCTTTTTG	0.393000													1	1	1	1	1	1	0.991094	8	51	0	80	0	0	0	0	0	80	5
ADAMTS3	9508	broad.mit.edu	37	4	73188757	73188757	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:73188757G>A	ENST00000286657.4	-	6	955	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	43	89	0	129	307	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			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)			ATTATCATGCGCACCAGGACC	0.363000													1	1	1	1	0	1	1.000000	49	97	0	156	0	0	0	0	0	156	4
ALB	213	broad.mit.edu	37	4	74283943	74283943	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:74283943C>T	ENST00000295897.4	+	12	1656	c.1567C>T	c.(1567-1569)Ccc>Tcc	p.P523S	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.P408S|ALB_ENST00000503124.1_Missense_Mutation_p.P373S|ALB_ENST00000415165.2_Missense_Mutation_p.P331S|ALB_ENST00000509063.1_Missense_Mutation_p.P523S	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	21	38	0	67	523	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			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	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 iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AACATACGTTCCCAAAGAGTT	0.428000													1	1	1	1	1	1	1.000000	27	43	0	74	0	5.035542e-01	0	4	0	74	5
PARM1	25849	broad.mit.edu	37	4	75971446	75971446	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:75971446G>T	ENST00000307428.7	+	4	1134	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	PARM1_ENST00000513238.1_Missense_Mutation_p.D66Y	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	12	19	0	27	308					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCTCTGTACGATGACTCCTA	0.438000													1	1	1	1	1	1	0.999971	15	22	0	32	0	5.376575e-01	0	4	0	32	5
NUP54	53371	broad.mit.edu	37	4	77036593	77036593	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77036593C>A	ENST00000264883.3	-	12	1590	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y	NUP54_ENST00000342467.6_Missense_Mutation_p.D268Y|NUP54_ENST00000458189.2_Missense_Mutation_p.D304Y|NUP54_ENST00000514987.1_Missense_Mutation_p.D436Y	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	4	27	0	18	484					carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		p.D484Y(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCTTCTAGATCGTCTTTAATG	0.333000													0	0	1	0	0	1	0.894644	4	28	0	19	1	9.994111e-01	16	143	0	19	1
NUP54	53371	broad.mit.edu	37	4	77053689	77053689	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77053689C>T	ENST00000264883.3	-	6	1034	c.894G>A	c.(892-894)caG>caA	p.Q298Q	NUP54_ENST00000342467.6_Silent_p.Q118Q|NUP54_ENST00000458189.2_Silent_p.Q118Q|NUP54_ENST00000514987.1_Silent_p.Q250Q	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	49	70	0	144	298	9 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CAGGAGGATTCTGTAAAAGCT	0.368000													1	1	1	1	1	1	1.000000	58	83	0	161	1	1	41	42	0	161	5
SHROOM3	57619	broad.mit.edu	37	4	77700186	77700186	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77700186C>A	ENST00000296043.6	+	11	6800	c.5847C>A	c.(5845-5847)gtC>gtA	p.V1949V	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	44	93	0	181	1949	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			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGGAGCAGGTCAAGTGTCTGC	0.582000													1	1	1	1	1	1	1.000000	54	103	0	217	1	1	19	40	0	217	5
CCNI	10983	broad.mit.edu	37	4	77969638	77969638	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:77969638A>G	ENST00000237654.4	-	7	1444	c.868T>C	c.(868-870)Tcc>Ccc	p.S290P	CCNI_ENST00000537948.1_Missense_Mutation_p.S276P	NM_006835.2	NP_006826.1	Q14094	CCNI_HUMAN	cyclin I	41	60	0	106	290					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						TTGTCCTTGGAGAAGTCTGGG	0.532000													1	1	1	1	1	1	1.000000	46	65	0	116	1	1	334	426	0	116	5
PAQR3	152559	broad.mit.edu	37	4	79845024	79845024	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:79845024C>T	ENST00000512733.1	-	5	993	c.780G>A	c.(778-780)gaG>gaA	p.E260E	PAQR3_ENST00000380645.4_Silent_p.E260E|PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_Intron	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	16	17	0	27	260						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						GAAAGTACCGCTCTGGGACTT	0.368000													1	1	1	1	1	1	0.999999	18	17	0	31	1	9.567938e-01	3	5	0	31	5
HNRNPD	3184	broad.mit.edu	37	4	83280639	83280639	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:83280639C>T	ENST00000313899.7	-	3	721	c.444G>A	c.(442-444)tcG>tcA	p.S148S	HNRNPD_ENST00000543098.1_Silent_p.S96S|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Silent_p.S129S|HNRNPD_ENST00000353341.4_Silent_p.S148S	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	23	41	0	66	148	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			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CTACACTCTCCGATTCTTTAA	0.358000													1	1	1	1	1	1	1.000000	27	47	0	73	1	1	236	348	0	73	5
THAP9	79725	broad.mit.edu	37	4	83839057	83839057	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:83839057A>G	ENST00000302236.5	+	5	1743	c.1692A>G	c.(1690-1692)caA>caG	p.Q564Q	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	21	29	0	43	564							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCAATAATCAAATAATTAAAG	0.348000													1	1	1	1	1	1	1.000000	22	30	0	50	0	1.858586e-01	1	1	0	50	5
WDFY3	23001	broad.mit.edu	37	4	85738736	85738736	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:85738736T>G	ENST00000322366.6	-	13	2103	c.1696A>C	c.(1696-1698)Att>Ctt	p.I566L	WDFY3_ENST00000295888.4_Missense_Mutation_p.I566L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	8	62	0	80	566						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCTCGAAAAATTCCTTGAAGG	0.378000													1	1	1	1	1	1	0.995226	9	63	0	83	0	5.320057e-02	0	3	0	83	5
ARHGAP24	83478	broad.mit.edu	37	4	86844806	86844806	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:86844806G>A	ENST00000395184.1	+	4	740	c.274G>A	c.(274-276)Gat>Aat	p.D92N	ARHGAP24_ENST00000395183.2_5'UTR|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.D92N	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	9	23	0	31	92	PH.				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			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CACAGGAGGCGATCGAGATCG	0.483000													1	1	1	1	1	1	0.998296	10	23	0	32	0	4.772404e-01	1	4	0	32	5
MAPK10	5602	broad.mit.edu	37	4	86985420	86985420	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:86985420G>A	ENST00000395169.3	-	11	1715	c.996_splice	c.e11+1	p.A332_splice	MAPK10_ENST00000395157.3_Splice_Site_p.A225_splice|MAPK10_ENST00000395166.1_Splice_Site_p.A332_splice|MAPK10_ENST00000361569.2_Splice_Site_p.A370_splice|MAPK10_ENST00000395161.2_Splice_Site_p.A370_splice|MAPK10_ENST00000359221.3_Splice_Site_p.A370_splice|MAPK10_ENST00000449047.2_Splice_Site_p.A225_splice|MAPK10_ENST00000395160.3_Splice_Site_p.A225_splice	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	24	53	0	90	370	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			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		ATTTCTTACCGCCTCCACTTC	0.433000													1	1	1	1	1	1	1.000000	26	62	0	105	0	5.740346e-01	0	6	0	105	5
PTPN13	0	broad.mit.edu	37	4	87622929	87622929	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87622929T>C	ENST00000436978.1	+	7	1650	c.1170T>C	c.(1168-1170)gtT>gtC	p.V390V	PTPN13_ENST00000427191.2_Silent_p.V390V|PTPN13_ENST00000411767.2_Silent_p.V390V|PTPN13_ENST00000316707.6_Silent_p.V390V|PTPN13_ENST00000511467.1_Silent_p.V390V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	17	41	0	65	390						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AACTTCAGGTTCTGAGGGAAG	0.358000													1	1	1	1	1	1	0.999997	19	47	0	71	1	2.122762e-01	2	1	0	71	5
PTPN13	0	broad.mit.edu	37	4	87684331	87684331	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87684331A>C	ENST00000436978.1	+	24	4485	c.4005A>C	c.(4003-4005)caA>caC	p.Q1335H	PTPN13_ENST00000427191.2_Missense_Mutation_p.Q1316H|PTPN13_ENST00000411767.2_Missense_Mutation_p.Q1335H|PTPN13_ENST00000316707.6_Missense_Mutation_p.Q1144H|PTPN13_ENST00000511467.1_Missense_Mutation_p.Q1335H	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	26	81	0	129	1335						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGGATCATCAAACACCAAAAC	0.358000													1	1	1	1	1	1	1.000000	29	86	0	144	1	7.047505e-01	6	3	0	144	5
PTPN13	0	broad.mit.edu	37	4	87686594	87686594	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87686594C>T	ENST00000436978.1	+	26	4691	c.4211C>T	c.(4210-4212)gCt>gTt	p.A1404V	PTPN13_ENST00000427191.2_Missense_Mutation_p.A1380V|PTPN13_ENST00000411767.2_Missense_Mutation_p.A1399V|PTPN13_ENST00000316707.6_Missense_Mutation_p.A1208V|PTPN13_ENST00000511467.1_Missense_Mutation_p.A1404V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	5	6	0	7	1399	PDZ 2.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TATGTGAAAGCTGTTATTCCC	0.338000													0	0	0	1	1	1	0.952174	5	8	0	10	1	8.390093e-01	4	4	0	10	2
SLC10A6	345274	broad.mit.edu	37	4	87770058	87770058	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87770058C>T	ENST00000273905.6	-	1	358	c.211G>A	c.(211-213)Gga>Aga	p.G71R	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	19	47	0	63	71						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CAGAGCAGTCCCACAGCAATG	0.532000													1	1	1	1	1	1	0.999997	19	49	0	69	0	0	0	0	0	69	5
SLC10A6	345274	broad.mit.edu	37	4	87770114	87770114	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87770114G>A	ENST00000273905.6	-	1	302	c.155C>T	c.(154-156)tCc>tTc	p.S52F	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	10	31	0	60	52						integral to membrane|plasma membrane	bile acid:sodium symporter activity	p.S52Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GATCTCCACGGAACATCCCAA	0.557000													1	1	1	1	1	1	0.998022	10	33	0	68	0	0	0	0	0	68	5
AFF1	4299	broad.mit.edu	37	4	87967346	87967346	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:87967346C>T	ENST00000307808.6	+	2	466	c.46C>T	c.(46-48)Cga>Tga	p.R16*	AFF1_ENST00000395146.4_Nonsense_Mutation_p.R23*|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	33	67	0	127	16						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAACCTGCTTCGAATTAGAGA	0.403000													1	1	1	1	1	1	1.000000	35	73	0	134	0	1.090909e-01	1	1	0	134	5
SPARCL1	8404	broad.mit.edu	37	4	88400658	88400658	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:88400658G>T	ENST00000418378.1	-	11	2461	c.1890C>A	c.(1888-1890)ttC>ttA	p.F630L	SPARCL1_ENST00000503414.1_Missense_Mutation_p.F505L|SPARCL1_ENST00000282470.6_Missense_Mutation_p.F630L	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	28	78	0	116	630	EF-hand.				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		ACTCCTCAAAGAAACGGGTTA	0.463000													1	1	1	1	1	1	1.000000	28	79	0	118	0	1	0	238	0	118	5
MEPE	56955	broad.mit.edu	37	4	88766288	88766288	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:88766288T>C	ENST00000497649.2	+	6	574	c.196T>C	c.(196-198)Ttc>Ctc	p.F66L	MEPE_ENST00000424957.3_Missense_Mutation_p.F90L|MEPE_ENST00000361056.3_Missense_Mutation_p.F90L|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.F121L|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000511670.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	23	42	0	48	90					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TCAAAATTATTTCACAAATAG	0.338000													1	1	1	1	1	1	1.000000	24	47	0	52	0	0	0	0	0	52	5
ABCG2	9429	broad.mit.edu	37	4	89052995	89052995	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:89052995C>T	ENST00000237612.3	-	4	883	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.R113Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	7	24	0	22	113	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	ATTGGCAGGTCGCGGTGCTCC	0.393000													1	0	1	1	1	1	0.992080	8	30	0	24	0	5.487805e-02	0	2	0	24	4
HERC3	8916	broad.mit.edu	37	4	89577136	89577136	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:89577136C>A	ENST00000402738.1	+	9	1258	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H	HERC3_ENST00000264345.3_Missense_Mutation_p.P340H|HERC3_ENST00000407637.1_Missense_Mutation_p.P340H	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	23	33	0	67	340					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TGCCCATCTCCTGTCAAGGGT	0.463000													1	1	1	1	1	1	1.000000	24	35	0	69	1	7.694599e-01	4	2	0	69	5
MMRN1	22915	broad.mit.edu	37	4	90816240	90816240	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:90816240C>T	ENST00000394980.1	+	2	437	c.118C>T	c.(118-120)Cct>Tct	p.P40S	MMRN1_ENST00000264790.2_Missense_Mutation_p.P40S|MMRN1_ENST00000394981.1_Missense_Mutation_p.P40S			Q13201	MMRN1_HUMAN	multimerin 1	23	47	0	79	40					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAAGACTATGCCTTCTGCTTC	0.448000													1	1	1	1	1	1	1.000000	23	47	0	82	0	0	0	1	0	82	5
MMRN1	22915	broad.mit.edu	37	4	90856726	90856726	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:90856726T>G	ENST00000394980.1	+	7	2214	c.1895T>G	c.(1894-1896)aTg>aGg	p.M632R	MMRN1_ENST00000264790.2_Missense_Mutation_p.M632R|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.M374R			Q13201	MMRN1_HUMAN	multimerin 1	34	44	0	83	632					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GACAATAAGATGGACAAAATG	0.358000													1	1	1	1	1	1	1.000000	40	49	0	96	0	0	0	1	0	96	5
MMRN1	22915	broad.mit.edu	37	4	90857447	90857447	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:90857447G>A	ENST00000394980.1	+	7	2935	c.2616G>A	c.(2614-2616)acG>acA	p.T872T	MMRN1_ENST00000264790.2_Silent_p.T872T|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Silent_p.T614T			Q13201	MMRN1_HUMAN	multimerin 1	10	17	0	17	872					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTACCCAGACGCTCATACCTT	0.343000													1	1	1	1	1	1	0.998609	10	17	0	18	0	3.279199e-01	1	2	0	18	5
GRID2	2895	broad.mit.edu	37	4	93511403	93511403	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:93511403T>G	ENST00000282020.4	+	2	468	c.210T>G	c.(208-210)gtT>gtG	p.V70V	GRID2_ENST00000510992.1_Silent_p.V70V|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	30	67	0	130	70					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			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		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)	TGACGTTTGTTGATGGCAACA	0.383000													1	1	1	1	1	1	1.000000	33	74	0	153	1	8.569944e-01	5	5	0	153	5
GRID2	2895	broad.mit.edu	37	4	94344033	94344033	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:94344033G>A	ENST00000282020.4	+	10	1717	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	GRID2_ENST00000510992.1_Missense_Mutation_p.E392K	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	16	33	0	46	487					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	p.E487Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		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)	TTTTAACTACGAAATTTACGT	0.418000													1	1	1	1	1	1	0.999980	16	33	0	49	1	7.196970e-01	5	2	0	49	5
SMARCAD1	56916	broad.mit.edu	37	4	95158103	95158103	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95158103T>G	ENST00000354268.4	+	5	611	c.537_splice	c.e5-1	p.L180_splice	SMARCAD1_ENST00000457823.2_Splice_Site_p.L180_splice			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	13	35	0	46	180	CUE 1.				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			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GTTCTGTTAGTTGATTGAATC	0.318000													1	1	1	1	1	1	0.999977	16	38	0	51	1	5.781529e-01	3	3	0	51	5
SMARCAD1	56916	broad.mit.edu	37	4	95196044	95196044	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95196044C>A	ENST00000354268.4	+	14	1809	c.1736C>A	c.(1735-1737)tCt>tAt	p.S579Y	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.S579Y|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.S149Y			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	17	23	0	47	579	Helicase ATP-binding.				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			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		ATTCTAGGTTCTCAAGAAGAA	0.284000													1	1	1	1	1	1	0.999998	18	23	0	48	1	9.913843e-01	10	4	0	48	5
SMARCAD1	56916	broad.mit.edu	37	4	95200129	95200129	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95200129C>T	ENST00000354268.4	+	19	2419	c.2346C>T	c.(2344-2346)gcC>gcT	p.A782A	SMARCAD1_ENST00000457823.2_Silent_p.A784A|SMARCAD1_ENST00000509418.1_Silent_p.A352A			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	7	16	0	30	782					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			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GGAAAATGGCCAATCATCCTT	0.343000													1	1	1	1	1	1	0.986371	7	17	0	34	1	9.863707e-01	3	21	0	34	5
SMARCAD1	56916	broad.mit.edu	37	4	95201893	95201893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:95201893C>T	ENST00000354268.4	+	20	2642	c.2569C>T	c.(2569-2571)Cga>Tga	p.R857*	SMARCAD1_ENST00000457823.2_Nonsense_Mutation_p.R859*|SMARCAD1_ENST00000509418.1_Nonsense_Mutation_p.R427*			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	41	59	0	96	857					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			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGGAAAATTTCGAGTTTTAGG	0.308000													1	1	1	1	1	1	1.000000	47	70	0	106	1	9.999949e-01	3	31	0	106	5
EIF4E	1977	broad.mit.edu	37	4	99823086	99823086	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:99823086C>T	ENST00000450253.2	-	2	1590	c.66G>A	c.(64-66)acG>acA	p.T22T	EIF4E_ENST00000505992.1_Silent_p.T22T|EIF4E_ENST00000280892.6_Silent_p.T42T|EIF4E_ENST00000504432.1_Silent_p.T50T|EIF4E_ENST00000504472.1_5'UTR	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	41	88	0	146	22					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	p.T22T(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		GATTAGATTCCGTTTTCTCCT	0.388000													1	1	1	1	1	1	1.000000	50	97	0	174	1	1	59	42	0	174	5
ADH6	130	broad.mit.edu	37	4	100129875	100129875	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:100129875C>T	ENST00000394897.1	-	6	860	c.778G>A	c.(778-780)Gat>Aat	p.D260N	ADH6_ENST00000394899.2_Missense_Mutation_p.D260N|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.D51N|ADH6_ENST00000237653.7_Missense_Mutation_p.D260N|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000504257.1_5'UTR			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	81	186	0	303	260					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ATACCAGCATCTGTCATATCA	0.408000													1	1	1	1	1	1	1.000000	85	200	0	322	0	0	0	1	0	322	5
ADH6	130	broad.mit.edu	37	4	100130081	100130081	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:100130081G>T	ENST00000394897.1	-	6	654	c.572C>A	c.(571-573)aCt>aAt	p.T191N	ADH6_ENST00000394899.2_Missense_Mutation_p.T191N|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_5'UTR|ADH6_ENST00000237653.7_Missense_Mutation_p.T191N|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000504257.1_5'UTR			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	22	259	0	296	191					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	AGAACCTGGAGTCACCTAAAC	0.453000													1	1	1	1	0	1	1.000000	23	277	0	321	0	6.556947e-03	0	2	0	321	4
ADH1B	125	broad.mit.edu	37	4	100235062	100235062	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:100235062C>A	ENST00000305046.8	-	6	811	c.744G>T	c.(742-744)aaG>aaT	p.K248N	ADH1B_ENST00000394887.3_Missense_Mutation_p.K208N			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	103	219	0	432	248					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GAATGGGTTTCTTGTAGTCTT	0.463000													0	0	1	1	1	1	1.000000	103	220	0	358	0	0	0	0	0	358	3
SLC9B1	150159	broad.mit.edu	37	4	103867923	103867923	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:103867923T>C	ENST00000296422.7	-	5	547	c.406A>G	c.(406-408)Att>Gtt	p.I136V	SLC9B1_ENST00000394789.3_Missense_Mutation_p.I136V	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	9	16	0	35	136						integral to membrane	solute:hydrogen antiporter activity										ACATTCCTAATCGTAAAACCA	0.333000													1	1	1	1	1	1	0.998557	10	18	0	38	0	0	0	0	0	38	5
BDH2	56898	broad.mit.edu	37	4	104003288	104003288	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:104003288C>T	ENST00000296424.4	-	9	754	c.634G>A	c.(634-636)Gca>Aca	p.A212T		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	6	14	0	34	212					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			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TCTGCAGTTGCGAATCTTCCC	0.463000													1	0	1	1	1	1	0.972347	6	17	0	38	1	9.999974e-01	69	84	0	38	4
CENPE	1062	broad.mit.edu	37	4	104061119	104061119	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:104061119A>C	ENST00000265148.3	-	38	6120	c.6031T>G	c.(6031-6033)Tta>Gta	p.L2011V	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	14	31	0	26	2011				AQNLSMQSVR -> PNYLCKCE (in Ref. 1; CAA78727).	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			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGCATAGATAAGTTTTGGGCC	0.328000													1	1	1	1	1	1	0.999991	17	34	0	28	1	5.451687e-01	4	1	0	28	5
TET2	54790	broad.mit.edu	37	4	106158562	106158562	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:106158562T>C	ENST00000305737.2	+	3	3867	c.3463T>C	c.(3463-3465)Tta>Cta	p.L1155L	TET2_ENST00000380013.4_Intron|TET2_ENST00000540549.1_Intron|TET2_ENST00000394764.1_Silent_p.L1155L|TET2_ENST00000413648.2_Intron|TET2_ENST00000545826.1_Intron|TET2_ENST00000513237.1_Intron	NM_017628.4	NP_060098.3	Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	16	30	0	48	0					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			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTAGCAAATTTATCTTCAGA	0.353000			Mis N, F		MDS								1	1	1	1	1	1	0.999991	17	33	0	50	0	0	1	0	0	50	5
NPNT	255743	broad.mit.edu	37	4	106879674	106879674	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:106879674A>G	ENST00000379987.2	+	9	1422	c.1206A>G	c.(1204-1206)gaA>gaG	p.E402E	NPNT_ENST00000514622.1_Intron|NPNT_ENST00000506666.1_Intron|NPNT_ENST00000427316.2_Silent_p.E432E|NPNT_ENST00000305572.8_Intron|NPNT_ENST00000453617.2_Silent_p.E419E	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	8	20	0	42	402					cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TTGAAATAGAAAGAGGAGTCA	0.373000													1	1	1	1	1	1	0.998260	10	25	0	50	0	4.612115e-01	1	4	0	50	5
AIMP1	9255	broad.mit.edu	37	4	107252909	107252909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:107252909C>T	ENST00000394701.4	+	5	585	c.544C>T	c.(544-546)Cga>Tga	p.R182*	AIMP1_ENST00000442366.1_Nonsense_Mutation_p.R158*|AIMP1_ENST00000358008.3_Nonsense_Mutation_p.R158*	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	55	97	0	179	158	Interaction with HSP90B1 (By similarity).|Required for endothelial cell migration.|tRNA-binding.				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			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						TCTGGATCTTCGAATTGGTTG	0.413000													1	1	1	1	1	1	1.000000	61	108	0	195	1	1	21	118	0	195	5
RPL34	6164	broad.mit.edu	37	4	109543322	109543322	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:109543322A>C	ENST00000394668.2	+	3	193	c.127A>C	c.(127-129)Aaa>Caa	p.K43Q	RPL34_ENST00000394665.1_Missense_Mutation_p.K43Q|RPL34_ENST00000506397.1_Missense_Mutation_p.K43Q|RPL34_ENST00000502534.1_Missense_Mutation_p.K43Q|RPL34_ENST00000394667.3_Missense_Mutation_p.K43Q	NM_033625.2	NP_296374.1	P49207	RL34_HUMAN	ribosomal protein L34	15	29	0	46	43					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			kidney(2)|lung(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000286)		GAAAGCACCAAAATCTGCATG	0.448000													1	1	1	1	0	1	0.999980	16	33	0	53	1	1	954	1246	0	53	4
EGF	1950	broad.mit.edu	37	4	110864438	110864438	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:110864438C>A	ENST00000265171.5	+	3	801	c.356C>A	c.(355-357)tCt>tAt	p.S119Y	EGF_ENST00000509793.1_Missense_Mutation_p.S119Y|EGF_ENST00000503392.1_Missense_Mutation_p.S119Y|EGF_ENST00000502723.1_3'UTR	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	17	39	0	60	119					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			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AAAAATGTTTCTGGAATGGCA	0.264000													1	1	1	1	1	1	0.999999	20	41	0	70	0	0	0	0	0	70	5
EGF	1950	broad.mit.edu	37	4	110865047	110865047	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:110865047C>A	ENST00000265171.5	+	4	1004	c.559C>A	c.(559-561)Ctc>Atc	p.L187I	EGF_ENST00000509793.1_Missense_Mutation_p.L187I|EGF_ENST00000503392.1_Missense_Mutation_p.L187I|EGF_ENST00000502723.1_3'UTR	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	10	34	0	60	187					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			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TAGAGCAGATCTCGATGGTGT	0.423000													1	0	1	1	1	1	0.998969	11	39	0	72	0	0	0	1	0	72	4
TIFA	92610	broad.mit.edu	37	4	113199456	113199456	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113199456C>A	ENST00000361717.2	-	2	398	c.117G>T	c.(115-117)gaG>gaT	p.E39D	TIFA_ENST00000500655.2_Missense_Mutation_p.E39D	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	38	62	0	111	39							protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		AAGGGAGTTTCTCTCTGTTAA	0.428000													1	1	1	1	1	1	1.000000	42	66	0	122	1	9.999999e-01	19	30	0	122	5
ALPK1	80216	broad.mit.edu	37	4	113352752	113352752	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113352752C>A	ENST00000458497.1	+	11	2328	c.2049C>A	c.(2047-2049)ttC>ttA	p.F683L	ALPK1_ENST00000504176.2_Missense_Mutation_p.F605L|ALPK1_ENST00000177648.9_Missense_Mutation_p.F683L	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	27	37	0	77	683							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CAGGCATTTTCTTGGCCCCTG	0.498000													1	1	1	1	1	1	1.000000	28	39	0	82	1	9.905309e-01	6	8	0	82	5
NEUROG2	63973	broad.mit.edu	37	4	113436535	113436535	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113436535G>A	ENST00000313341.3	-	2	423	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	9	26	0	47	33					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CTGGATGACAGCGGGGTCAGG	0.701000													1	1	1	1	0	1	0.998192	10	27	0	53	0	0	0	0	0	53	4
C4orf21	55345	broad.mit.edu	37	4	113540667	113540667	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:113540667C>T	ENST00000505019.1	-	6	656	c.531G>A	c.(529-531)gaG>gaA	p.E177E	C4orf21_ENST00000445203.2_Silent_p.E146E|C4orf21_ENST00000309071.5_Silent_p.E177E	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	18	33	0	50	177										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCACAATGTTCTCAGGGTCTG	0.408000													1	1	1	1	1	1	0.999996	18	36	0	51	0	1.190476e-01	0	2	0	51	5
ANK2	287	broad.mit.edu	37	4	114095638	114095638	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114095638C>A	ENST00000357077.4	+	2	204	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	ANK2_ENST00000264366.6_Missense_Mutation_p.L51M|ANK2_ENST00000506722.1_Missense_Mutation_p.L30M|ANK2_ENST00000394537.3_Missense_Mutation_p.L51M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	11	22	0	30	51					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTGGAATATCTGAAGGGGGG	0.463000													1	1	1	1	1	1	0.999615	12	26	0	36	0	0	0	0	0	36	5
ANK2	287	broad.mit.edu	37	4	114275856	114275856	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114275856C>T	ENST00000357077.4	+	38	6135	c.6082C>T	c.(6082-6084)Cgg>Tgg	p.R2028W	ANK2_ENST00000264366.6_Missense_Mutation_p.R1995W|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	49	74	0	123	1995					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R2028W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGTAAAGTTCGGGTAGAAAA	0.463000													1	1	1	1	1	1	1.000000	49	76	0	123	0	0	0	0	0	123	5
ANK2	287	broad.mit.edu	37	4	114275979	114275979	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114275979C>T	ENST00000357077.4	+	38	6258	c.6205C>T	c.(6205-6207)Cgt>Tgt	p.R2069C	ANK2_ENST00000264366.6_Missense_Mutation_p.R2036C|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	9	169	0	177	2036					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGAGGAGTTCGTGTTTCCTC	0.468000													1	1	1	1	0	1	0.997113	10	182	0	193	0	0	0	0	0	193	4
CAMK2D	817	broad.mit.edu	37	4	114680550	114680550	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114680550C>T	ENST00000454265.2	-	2	944	c.86G>A	c.(85-87)aGa>aAa	p.R29K	CAMK2D_ENST00000394524.3_Missense_Mutation_p.R29K|CAMK2D_ENST00000429180.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000515496.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000342666.5_Missense_Mutation_p.R29K|CAMK2D_ENST00000394526.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000418639.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000379773.2_Missense_Mutation_p.R29K|CAMK2D_ENST00000505990.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000511664.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000514328.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000394522.3_Missense_Mutation_p.R29K|CAMK2D_ENST00000508738.1_Missense_Mutation_p.R29K|CAMK2D_ENST00000296402.5_Missense_Mutation_p.R29K			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	20	47	0	95	29	Protein kinase.				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			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CATACATCTTCTCACCACTGA	0.328000													1	1	1	1	1	1	1.000000	22	55	0	110	1	8.200029e-01	4	6	0	110	5
ARSJ	79642	broad.mit.edu	37	4	114824392	114824392	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:114824392C>T	ENST00000315366.7	-	2	1704	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	ARSJ_ENST00000541197.1_Missense_Mutation_p.E280K	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	29	36	0	82	280						extracellular region	arylsulfatase activity|metal ion binding	p.E280K(1)		endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		CGGTAGTGTTCGAAATACCTG	0.418000													1	1	1	1	1	1	1.000000	31	36	0	85	1	9.999999e-01	20	22	0	85	5
UGT8	7368	broad.mit.edu	37	4	115544196	115544196	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:115544196T>C	ENST00000310836.6	+	2	682	c.160T>C	c.(160-162)Ttc>Ctc	p.F54L	UGT8_ENST00000394511.3_Missense_Mutation_p.F54L	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	19	54	0	52	54					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			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CCATACAGTGTTCCTCCTCTC	0.488000													1	1	1	1	1	1	0.999999	20	55	0	57	1	9.894944e-01	6	17	0	57	5
NDST4	64579	broad.mit.edu	37	4	115792003	115792003	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:115792003T>G	ENST00000264363.2	-	7	2318	c.1640A>C	c.(1639-1641)aAa>aCa	p.K547T		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	21	32	0	68	547	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTTTGCAATTTCAGGTTGGT	0.443000													1	1	1	1	1	1	1.000000	23	35	0	74	0	0	0	0	0	74	5
SYNPO2	171024	broad.mit.edu	37	4	119952573	119952573	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:119952573G>A	ENST00000307142.4	+	4	2839	c.2643G>A	c.(2641-2643)tcG>tcA	p.S881S	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Silent_p.S881S|SYNPO2_ENST00000429713.2_Silent_p.S881S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	39	78	0	129	881						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAAGGCAGTCGAGAATGGAGA	0.552000													1	1	1	1	1	1	1.000000	41	82	0	138	0	6.488880e-01	0	6	0	138	5
SYNPO2	171024	broad.mit.edu	37	4	119978690	119978690	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:119978690A>C	ENST00000307142.4	+	5	3583	c.3387A>C	c.(3385-3387)ccA>ccC	p.P1129P	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	22	59	0	90	780						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACAAGAGACCAACTCCTTGGG	0.473000													1	1	1	1	1	1	1.000000	22	61	0	98	0	0	0	0	0	98	5
PRDM5	11107	broad.mit.edu	37	4	121675763	121675763	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:121675763T>C	ENST00000264808.3	-	14	1808	c.1568A>G	c.(1567-1569)gAa>gGa	p.E523G	PRDM5_ENST00000515109.1_Intron|PRDM5_ENST00000428209.2_Missense_Mutation_p.E492G|PRDM5_ENST00000506065.1_5'UTR	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	16	19	0	30	523					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)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAATCCTTTTTCACAGTAAGG	0.378000													1	1	1	1	1	1	0.999999	19	23	0	36	1	7.376167e-01	2	3	0	36	5
PRDM5	11107	broad.mit.edu	37	4	121720877	121720877	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:121720877T>G	ENST00000264808.3	-	9	1209	c.969A>C	c.(967-969)caA>caC	p.Q323H	PRDM5_ENST00000515109.1_Missense_Mutation_p.Q292H|PRDM5_ENST00000428209.2_Missense_Mutation_p.Q292H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	10	19	0	18	323					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)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCATACATTCTTGACAATCAA	0.299000													1	0	1	1	1	1	0.999648	12	23	0	23	0	0	0	1	0	23	4
PRDM5	11107	broad.mit.edu	37	4	121742491	121742491	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:121742491T>G	ENST00000264808.3	-	4	550	c.310A>C	c.(310-312)Aac>Cac	p.N104H	PRDM5_ENST00000515109.1_Missense_Mutation_p.N104H|PRDM5_ENST00000428209.2_Missense_Mutation_p.N104H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	25	33	0	51	104	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)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGAAAATGTTTTCTCCTTCC	0.338000													1	1	1	1	1	1	1.000000	26	36	0	54	0	1.817308e-01	0	2	0	54	5
TNIP3	79931	broad.mit.edu	37	4	122071311	122071311	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122071311C>A	ENST00000454328.1	-	8	783	c.556G>T	c.(556-558)Gtg>Ttg	p.V186L	TNIP3_ENST00000057513.3_Missense_Mutation_p.V186L|TNIP3_ENST00000507879.1_Missense_Mutation_p.V256L|TNIP3_ENST00000509841.1_Missense_Mutation_p.V263L			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	18	27	0	52	186										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CAGAATTCCACTCGAGACTTC	0.438000													1	1	1	1	1	1	0.999999	19	28	0	54	0	5.351002e-01	0	4	0	54	5
TNIP3	79931	broad.mit.edu	37	4	122078361	122078361	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122078361C>A	ENST00000454328.1	-	6	478	c.251G>T	c.(250-252)aGa>aTa	p.R84I	TNIP3_ENST00000057513.3_Missense_Mutation_p.R84I|TNIP3_ENST00000507879.1_Missense_Mutation_p.R154I|TNIP3_ENST00000509841.1_Missense_Mutation_p.R161I			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	85	283	1	476	84										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GCTGAGGAATCTTTCCGCGGC	0.587000													1	1	1	1	1	1	1.000000	91	310	1	533	0	0	0	1	1	533	5
EXOSC9	5393	broad.mit.edu	37	4	122724127	122724127	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122724127G>A	ENST00000512454.1	+	3	507	c.291G>A	c.(289-291)tcG>tcA	p.S97S	EXOSC9_ENST00000243498.5_Silent_p.S113S|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Silent_p.S113S			Q06265	EXOS9_HUMAN	exosome component 9	11	29	0	54	113	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|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TAAGAAATTCGAAGTGTATAG	0.378000													1	1	1	1	1	1	0.999557	12	32	0	62	1	9.999882e-01	29	43	0	62	5
EXOSC9	5393	broad.mit.edu	37	4	122728757	122728757	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122728757T>C	ENST00000512454.1	+	5	753	c.537T>C	c.(535-537)agT>agC	p.S179S	EXOSC9_ENST00000243498.5_Silent_p.S195S|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Silent_p.S195S			Q06265	EXOS9_HUMAN	exosome component 9	22	29	0	60	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|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TTTGTGTCAGTTTTGCCTTTT	0.368000													1	1	1	1	1	1	1.000000	24	36	0	67	1	1	38	46	0	67	5
BBS7	0	broad.mit.edu	37	4	122749316	122749316	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122749316G>T	ENST00000264499.4	-	18	2182	c.1999C>A	c.(1999-2001)Ctt>Att	p.L667I	BBS7_ENST00000506636.1_Missense_Mutation_p.L667I	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	12	84	0	100	667					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			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTCTTTCAAGATGTGCAGGT	0.398000									Bardet-Biedl syndrome				1	1	1	1	1	1	0.999306	12	93	0	116	1	5.092753e-01	2	12	0	116	5
BBS7	0	broad.mit.edu	37	4	122756435	122756435	+	Missense_Mutation	SNP	G	G	A	rs150743868	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122756435G>A	ENST00000264499.4	-	14	1558	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	BBS7_ENST00000506636.1_Missense_Mutation_p.R459C	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	21	29	0	50	459					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			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCAATTGAGCGAATCTGATTC	0.358000									Bardet-Biedl syndrome				1	1	1	1	1	1	1.000000	23	29	0	55	1	9.842639e-01	5	7	0	55	5
BBS7	0	broad.mit.edu	37	4	122765149	122765149	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122765149A>G	ENST00000264499.4	-	12	1421	c.1238T>C	c.(1237-1239)gTt>gCt	p.V413A	BBS7_ENST00000506636.1_Missense_Mutation_p.V413A	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	5	8	0	8	413					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			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATCTATTGGAACATCACTCTA	0.303000									Bardet-Biedl syndrome				0	0	1	1	0	1	0.976616	6	9	0	8	1	8.104276e-01	3	4	0	8	2
BBS7	0	broad.mit.edu	37	4	122780322	122780322	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:122780322C>A	ENST00000264499.4	-	5	536	c.353G>T	c.(352-354)gGc>gTc	p.G118V	BBS7_ENST00000506636.1_Missense_Mutation_p.G118V	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	39	53	0	106	118					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			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAGGTCTGAGCCAGATATGTG	0.318000									Bardet-Biedl syndrome				1	1	1	1	1	1	1.000000	41	54	0	113	1	9.765790e-01	4	7	0	113	5
IL21	59067	broad.mit.edu	37	4	123534041	123534041	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:123534041C>A	ENST00000264497.3	-	4	460	c.403G>T	c.(403-405)Gaa>Taa	p.E135*		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	15	24	0	36	128					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	p.E135*(1)		NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TCTAGGAATTCTTTGGGTGGT	0.299000													1	1	1	1	1	1	0.999967	15	25	0	39	0	0	0	0	0	39	5
SPATA5	166378	broad.mit.edu	37	4	123949434	123949434	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:123949434C>T	ENST00000274008.3	+	11	2032	c.1963C>T	c.(1963-1965)Cga>Tga	p.R655*	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	42	69	0	110	655					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GTCTTTCATTCGAATGGGTAT	0.448000													1	1	1	1	1	1	1.000000	45	71	0	112	0	5.059268e-01	0	4	0	112	5
SPRY1	10252	broad.mit.edu	37	4	124323486	124323486	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:124323486C>T	ENST00000394339.2	+	2	1080	c.740C>T	c.(739-741)tCc>tTc	p.S247F	SPRY1_ENST00000339241.1_Missense_Mutation_p.S247F	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	41	79	0	138	247	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AATCCTTGCTCCTGTTCACAA	0.458000													1	1	1	1	1	1	1.000000	43	85	0	155	1	1	26	36	0	155	5
ANKRD50	57182	broad.mit.edu	37	4	125592847	125592847	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:125592847G>A	ENST00000504087.1	-	4	2622	c.1585C>T	c.(1585-1587)Cgg>Tgg	p.R529W	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R350W	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	39	63	0	84	529										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AATAATGTCCGAATGGAATCC	0.418000													1	1	1	1	1	1	1.000000	39	67	0	92	1	9.460109e-01	3	8	0	92	5
FAT4	79633	broad.mit.edu	37	4	126239028	126239028	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126239028G>A	ENST00000394329.3	+	1	1475	c.1462G>A	c.(1462-1464)Gcg>Acg	p.A488T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	11	29	0	44	488	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGCGAGGAGGCGCCTCCGGG	0.512000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999111	11	29	0	48	0	0	0	1	0	48	5
FAT4	79633	broad.mit.edu	37	4	126240330	126240330	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126240330G>T	ENST00000394329.3	+	1	2777	c.2764G>T	c.(2764-2766)Gaa>Taa	p.E922*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	12	31	0	50	922	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGACCCTGATGAAGGTGTCAA	0.473000													1	1	1	1	1	1	0.999799	13	31	0	58	0	0	0	1	0	58	5
FAT4	79633	broad.mit.edu	37	4	126240857	126240857	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126240857A>G	ENST00000394329.3	+	1	3304	c.3291A>G	c.(3289-3291)agA>agG	p.R1097R		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	18	98	0	148	1097	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGATAACAGACCTCTTTTTA	0.393000													1	1	1	1	1	1	0.999989	18	109	0	154	0	0	0	0	0	154	5
FAT4	79633	broad.mit.edu	37	4	126336725	126336725	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126336725C>T	ENST00000394329.3	+	5	6620	c.6607C>T	c.(6607-6609)Cgg>Tgg	p.R2203W	FAT4_ENST00000335110.5_Missense_Mutation_p.R501W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	42	94	1	161	2203	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCAGGAATTTCGGATAGACTC	0.443000													1	0	1	1	1	1	1.000000	46	96	1	171	0	0	0	0	1	171	4
FAT4	79633	broad.mit.edu	37	4	126370224	126370224	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126370224C>T	ENST00000394329.3	+	9	8066	c.8053C>T	c.(8053-8055)Cga>Tga	p.R2685*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R983*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	56	75	0	139	2685	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTTTCCCCTCGAAAAATACT	0.343000													1	1	1	1	1	1	1.000000	58	82	0	155	1	1.743327e-01	2	0	0	155	5
FAT4	79633	broad.mit.edu	37	4	126370783	126370783	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126370783G>A	ENST00000394329.3	+	9	8625	c.8612G>A	c.(8611-8613)aGa>aAa	p.R2871K	FAT4_ENST00000335110.5_Missense_Mutation_p.R1169K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	37	40	0	93	2871	Cadherin 27.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATGCTCCAAGATTTAGCAGA	0.403000													1	1	1	1	1	1	1.000000	39	42	0	95	0	0	1	0	0	95	5
FAT4	79633	broad.mit.edu	37	4	126371571	126371571	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126371571G>T	ENST00000394329.3	+	9	9413	c.9400G>T	c.(9400-9402)Gaa>Taa	p.E3134*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.E1432*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	10	38	0	51	3134	Cadherin 30.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGGAAATGAAGAAGGCATTTT	0.393000													1	1	1	1	1	1	0.997869	10	40	0	51	0	1.206257e-01	0	3	0	51	5
FAT4	79633	broad.mit.edu	37	4	126411468	126411468	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:126411468G>T	ENST00000394329.3	+	17	13504	c.13491G>T	c.(13489-13491)gaG>gaT	p.E4497D	FAT4_ENST00000335110.5_Missense_Mutation_p.E2738D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	47	74	0	145	4497					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCCTGAAGAGATCTCTCTGC	0.607000													1	1	1	1	1	1	1.000000	51	80	0	157	1	7.467616e-01	3	3	0	157	5
INTU	27152	broad.mit.edu	37	4	128605632	128605632	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:128605632C>A	ENST00000335251.5	+	7	1353	c.1250C>A	c.(1249-1251)tCt>tAt	p.S417Y		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	8	10	0	11	417										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ATGTATGGTTCTTTAGATAGG	0.303000													0	0	1	1	1	1	0.997805	9	10	0	13	1	2.380952e-01	2	0	0	13	3
PLK4	0	broad.mit.edu	37	4	128814548	128814548	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:128814548A>C	ENST00000270861.5	+	11	2571	c.2297A>C	c.(2296-2298)aAa>aCa	p.K766T	PLK4_ENST00000507249.1_Missense_Mutation_p.K705T|PLK4_ENST00000514379.1_Missense_Mutation_p.K725T|PLK4_ENST00000513090.1_Missense_Mutation_p.K734T|PLK4_ENST00000515069.1_Missense_Mutation_p.K688T	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	14	41	0	37	766					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			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAGGAGATAAAAATGTATATG	0.318000													1	1	1	1	1	1	0.999883	14	42	0	38	1	9.356400e-01	6	11	0	38	5
SLC7A11	23657	broad.mit.edu	37	4	139101830	139101830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:139101830G>A	ENST00000280612.5	-	10	1510	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	12	21	0	49	411					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CATTTGTATCGAAGATAAATC	0.438000													1	1	1	1	1	1	0.999637	12	24	0	55	0	0	0	0	0	55	5
ELF2	1998	broad.mit.edu	37	4	139980462	139980462	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:139980462A>C	ENST00000394235.2	-	10	1923	c.1421T>G	c.(1420-1422)aTt>aGt	p.I474S	ELF2_ENST00000358635.3_Missense_Mutation_p.I426S|ELF2_ENST00000379550.1_Missense_Mutation_p.I486S|ELF2_ENST00000379549.2_Missense_Mutation_p.I397S|ELF2_ENST00000510408.1_Missense_Mutation_p.I414S|ELF2_ENST00000265495.4_Missense_Mutation_p.I474S|ELF2_ENST00000515489.1_Intron	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	28	47	0	58	486					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 transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GGTTCCAACAATGTTAATGCT	0.473000													1	1	1	1	1	1	1.000000	28	49	0	58	1	1	50	33	0	58	5
NAA15	80155	broad.mit.edu	37	4	140258010	140258010	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:140258010G>T	ENST00000296543.5	+	3	471	c.148G>T	c.(148-150)Gct>Tct	p.A50S	NAA15_ENST00000398947.1_Missense_Mutation_p.A50S	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	35	33	0	61	50					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGAAACCTTGGCTATGAAAGG	0.289000													1	1	1	1	1	1	1.000000	40	38	0	66	1	9.999943e-01	16	9	0	66	5
NAA15	80155	broad.mit.edu	37	4	140262166	140262166	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:140262166A>C	ENST00000296543.5	+	4	668	c.345A>C	c.(343-345)caA>caC	p.Q115H	NAA15_ENST00000398947.1_Missense_Mutation_p.Q115H|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	18	29	0	48	115					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ACAATCTTCAAATCTTAAGGG	0.363000													1	1	1	1	1	1	1.000000	21	34	0	52	1	9.930362e-01	8	9	0	52	5
SCOC	0	broad.mit.edu	37	4	141302251	141302251	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:141302251G>T	ENST00000394203.3	+	4	540	c.362G>T	c.(361-363)aGa>aTa	p.R121I	SCOC_ENST00000502535.1_Missense_Mutation_p.R81I|SCOC_ENST00000394205.3_Missense_Mutation_p.R121I|SCOC_ENST00000512749.1_Missense_Mutation_p.R81I|SCOC_ENST00000506597.1_Missense_Mutation_p.R130I|SCOC_ENST00000338517.4_Missense_Mutation_p.R121I|SCOC_ENST00000394201.3_Missense_Mutation_p.R158I|SCOC_ENST00000506322.1_Missense_Mutation_p.R81I	NM_001153585.1	NP_001147057.1	Q9UIL1	SCOC_HUMAN	short coiled-coil protein	5	20	0	20	158						Golgi apparatus|nucleus	protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					AAAAGCAAAAGAAAGTAAGGG	0.333000													1	0	1	1	1	1	0.970955	6	22	0	23	1	9.999680e-01	64	60	0	23	4
RNF150	57484	broad.mit.edu	37	4	141789419	141789419	+	Missense_Mutation	SNP	G	G	T	rs139463111		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:141789419G>T	ENST00000306799.3	-	7	1840	c.1187C>A	c.(1186-1188)tCt>tAt	p.S396Y	RNF150_ENST00000420921.2_Missense_Mutation_p.S297Y|RNF150_ENST00000515673.1_Missense_Mutation_p.S438Y|RNF150_ENST00000379512.2_Missense_Mutation_p.S297Y	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	17	34	0	27	438						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTCGTTTCAAGATTTCACTTC	0.468000													1	1	1	1	1	1	0.999999	20	36	0	30	1	9.085231e-01	4	6	0	30	5
INPP4B	8821	broad.mit.edu	37	4	143159024	143159024	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:143159024A>C	ENST00000513000.1	-	13	1262	c.829T>G	c.(829-831)Ttg>Gtg	p.L277V	INPP4B_ENST00000509777.1_Missense_Mutation_p.L277V|INPP4B_ENST00000262992.4_Missense_Mutation_p.L277V|INPP4B_ENST00000308502.4_Missense_Mutation_p.L277V|INPP4B_ENST00000508116.1_Missense_Mutation_p.L277V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	12	15	0	26	277					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TACCTGCACAAATCTTCTTTA	0.284000													1	1	1	1	0	1	0.999898	13	15	0	29	1	9.498692e-01	2	7	0	29	4
GAB1	2549	broad.mit.edu	37	4	144381598	144381598	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:144381598G>T	ENST00000262995.4	+	9	2278	c.1851G>T	c.(1849-1851)gaG>gaT	p.E617D	GAB1_ENST00000262994.4_Missense_Mutation_p.E587D|GAB1_ENST00000505913.1_Missense_Mutation_p.E484D	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	25	136	0	159	587					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					ACAGTGAAGAGAATTATGTTC	0.438000													1	1	1	1	1	1	1.000000	28	159	0	172	0	3.530696e-01	0	8	0	172	5
OTUD4	54726	broad.mit.edu	37	4	146058848	146058848	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:146058848C>A	ENST00000454497.2	-	21	3021	c.2884G>T	c.(2884-2886)Gaa>Taa	p.E962*	OTUD4_ENST00000447906.2_Nonsense_Mutation_p.E1027*|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	55	112	0	156	1026							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACTTCATTTTCATCTTCTGAA	0.408000													1	1	1	1	1	1	1.000000	57	117	0	162	1	9.929022e-01	10	9	0	162	5
TTC29	83894	broad.mit.edu	37	4	147830222	147830222	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:147830222T>G	ENST00000513335.1	-	6	633	c.434A>C	c.(433-435)tAc>tCc	p.Y145S	TTC29_ENST00000398886.4_Missense_Mutation_p.Y145S|TTC29_ENST00000325106.4_Missense_Mutation_p.Y119S			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	13	79	0	97	119							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATGGTACAGGTAATCCAGTTT	0.597000													1	1	1	1	1	1	0.999826	14	91	0	118	0	0	0	0	0	118	5
ARHGAP10	79658	broad.mit.edu	37	4	148796274	148796274	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:148796274G>A	ENST00000336498.3	+	8	1044	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	5	57	0	75	269	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GTTTACAGCCGAAGGCTACCT	0.453000													1	0	1	1	0	1	0.940023	5	62	0	86	0	2.813699e-01	0	12	0	86	3
NR3C2	0	broad.mit.edu	37	4	149181258	149181258	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:149181258C>T	ENST00000355292.3	-	3	2131	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	NR3C2_ENST00000512865.1_Missense_Mutation_p.R590Q|NR3C2_ENST00000511528.1_Missense_Mutation_p.R590Q|NR3C2_ENST00000358102.3_Missense_Mutation_p.R590Q|NR3C2_ENST00000342437.4_Missense_Mutation_p.R590Q|NR3C2_ENST00000344721.4_Missense_Mutation_p.R590Q			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	12	31	0	57	590	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	p.R590Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	AGAAACACTTCGTAAAGTAGA	0.413000													1	1	1	1	1	1	0.999789	13	33	0	62	1	3.357143e-01	3	1	0	62	5
DCLK2	166614	broad.mit.edu	37	4	151023816	151023816	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151023816G>A	ENST00000296550.7	+	2	1362	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	DCLK2_ENST00000302176.8_Missense_Mutation_p.R203Q|DCLK2_ENST00000506325.1_Missense_Mutation_p.R203Q	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	7	50	0	51	203	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACTGTGATTCGAAGTGGAGTG	0.438000													1	1	1	1	1	1	0.982949	7	50	0	57	1	9.713451e-02	2	2	0	57	5
LRBA	987	broad.mit.edu	37	4	151765812	151765812	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151765812T>C	ENST00000535741.1	-	27	4932	c.4459A>G	c.(4459-4461)Aag>Gag	p.K1487E	LRBA_ENST00000507224.1_Missense_Mutation_p.K1487E|LRBA_ENST00000357115.3_Missense_Mutation_p.K1487E|LRBA_ENST00000510413.1_Missense_Mutation_p.K1487E			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	15	21	0	36	1487						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATACTTACCTTCGCTGCAGAT	0.323000													1	1	1	1	1	1	0.999988	16	21	0	37	0	8.630176e-01	0	7	0	37	5
LRBA	987	broad.mit.edu	37	4	151774084	151774084	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151774084T>G	ENST00000535741.1	-	23	3251	c.2778A>C	c.(2776-2778)gaA>gaC	p.E926D	LRBA_ENST00000507224.1_Missense_Mutation_p.E926D|LRBA_ENST00000357115.3_Missense_Mutation_p.E926D|LRBA_ENST00000510413.1_Missense_Mutation_p.E926D			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	8	11	0	21	926						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTTTGTGTATTTCAAAAGTGA	0.313000													1	1	1	1	1	1	0.997517	9	12	0	23	0	1.992754e-01	1	1	0	23	5
LRBA	987	broad.mit.edu	37	4	151821337	151821337	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:151821337C>T	ENST00000535741.1	-	14	2261	c.1788G>A	c.(1786-1788)acG>acA	p.T596T	LRBA_ENST00000507224.1_Silent_p.T596T|LRBA_ENST00000357115.3_Silent_p.T596T|LRBA_ENST00000510413.1_Silent_p.T596T			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	14	27	0	58	596						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CAATGAATTCCGTGGACAGAT	0.408000													1	1	1	1	1	1	0.999993	17	27	0	64	0	1.581869e-01	0	2	0	64	5
FBXW7	0	broad.mit.edu	37	4	153244185	153244185	+	Nonsense_Mutation	SNP	G	G	A	rs144247898		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:153244185G>A	ENST00000281708.4	-	12	3201	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R540*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R482*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R578*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	54	88	0	127	658					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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	63	93	0	143	1	9.996481e-01	6	16	0	143	5
FBXW7	0	broad.mit.edu	37	4	153268137	153268137	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:153268137C>T	ENST00000281708.4	-	4	1900	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	FBXW7_ENST00000603841.1_Missense_Mutation_p.R224Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R106Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R48Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R224Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R144Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	5	98	0	87	224					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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGATGTAATTCGGCGTCGTTG	0.448000			Mis, N, D, F		colorectal, endometrial, T-ALL								0	0	1	0	0	1	0.966286	6	108	0	97	1	1.855174e-01	4	9	0	97	1
MND1	84057	broad.mit.edu	37	4	154271250	154271250	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:154271250G>T	ENST00000240488.3	+	2	127	c.38G>T	c.(37-39)aGa>aTa	p.R13I	MND1_ENST00000503967.1_3'UTR|MND1_ENST00000504860.1_5'UTR	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	10	39	0	42	13					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					GAAGAAAAGAGAACTCGCATG	0.279000													1	1	1	1	1	1	0.998895	11	46	0	52	1	9.369527e-01	6	17	0	52	5
TLR2	7097	broad.mit.edu	37	4	154625574	154625574	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:154625574A>C	ENST00000260010.6	+	1	2923	c.1515A>C	c.(1513-1515)aaA>aaC	p.K505N		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	26	38	0	66	505					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			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TAGTATTGAAAATCAGTAGGA	0.378000													1	1	1	1	1	1	1.000000	27	42	0	70	1	9.790996e-01	4	9	0	70	5
DCHS2	54798	broad.mit.edu	37	4	155156193	155156193	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155156193G>T	ENST00000357232.3	-	25	8245	c.8246C>A	c.(8245-8247)tCt>tAt	p.S2749Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	18	30	0	54	2749					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATAAAGACAGACTCTTTTCT	0.443000													1	1	1	1	1	1	0.999996	18	31	0	55	0	0	0	0	0	55	5
DCHS2	54798	broad.mit.edu	37	4	155180752	155180752	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155180752C>A	ENST00000357232.3	-	20	5368	c.5369G>T	c.(5368-5370)aGc>aTc	p.S1790I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	33	56	0	92	1790	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGGTAAATGCTTTGTTCAAA	0.408000													1	1	1	1	1	1	1.000000	34	62	0	102	0	0	0	0	0	102	5
DCHS2	54798	broad.mit.edu	37	4	155253722	155253722	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155253722A>C	ENST00000357232.3	-	9	2140	c.2141T>G	c.(2140-2142)aTt>aGt	p.I714S	DCHS2_ENST00000339452.1_Missense_Mutation_p.I1213S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	47	70	0	116	714	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATAGCTGTAATTTTGCCTAT	0.413000													1	1	1	1	1	1	1.000000	48	79	0	129	0	0	1	0	0	129	5
DCHS2	54798	broad.mit.edu	37	4	155312322	155312322	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155312322G>T	ENST00000357232.3	-	1	127	c.128C>A	c.(127-129)tCt>tAt	p.S43Y	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	3	18	0	18	43					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTACCTCTGAGATTTCACAAT	0.323000													0	0	1	0	1	1	0.895677	4	22	0	21	0	0	0	0	0	21	2
FGB	2244	broad.mit.edu	37	4	155490690	155490690	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155490690A>C	ENST00000302068.4	+	7	1046	c.983A>C	c.(982-984)aAa>aCa	p.K328T	FGB_ENST00000509493.1_Missense_Mutation_p.K109T|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	9	67	0	79	328	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|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GGAAATGATAAAATTAGCCAG	0.358000													1	1	1	1	1	1	0.995076	9	75	0	89	0	0	0	0	0	89	5
FGA	2243	broad.mit.edu	37	4	155505567	155505567	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155505567G>A	ENST00000302053.3	-	6	2388	c.2310C>T	c.(2308-2310)tcC>tcT	p.S770S		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	38	81	0	110	770	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			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTCCTCTACGGAACCCTCAA	0.527000													1	1	1	1	1	1	1.000000	40	87	0	124	0	0	0	0	0	124	5
FGG	2266	broad.mit.edu	37	4	155529776	155529776	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155529776C>A	ENST00000404648.3	-	7	932	c.693G>T	c.(691-693)aaG>aaT	p.K231N	FGG_ENST00000405164.1_Missense_Mutation_p.K239N|FGG_ENST00000336098.3_Missense_Mutation_p.K231N|FGG_ENST00000407946.1_Missense_Mutation_p.K239N	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	12	24	0	52	231	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			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCCAGTTTTTCTTGAAATCTA	0.358000													1	1	1	1	1	1	0.999825	13	26	0	56	0	0	0	0	0	56	5
FGG	2266	broad.mit.edu	37	4	155533543	155533543	+	Splice_Site	SNP	G	G	A	rs141554929		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:155533543G>A	ENST00000404648.3	-	2	362	c.123_splice	c.e2+1	p.F41_splice	FGG_ENST00000405164.1_Splice_Site_p.F41_splice|FGG_ENST00000336098.3_Splice_Site_p.F41_splice|FGG_ENST00000407946.1_Splice_Site_p.F41_splice	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	11	145	0	145	41					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			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AACTACTTACGAATCTTTCAT	0.338000													1	1	1	1	0	1	0.999220	12	164	0	169	0	0	0	0	0	169	4
MAP9	79884	broad.mit.edu	37	4	156294345	156294345	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:156294345C>A	ENST00000311277.4	-	4	687	c.424G>T	c.(424-426)Gac>Tac	p.D142Y	MAP9_ENST00000379248.2_Missense_Mutation_p.D70Y|MAP9_ENST00000515654.1_Missense_Mutation_p.D142Y|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	12	18	0	27	142					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTTATTTTGTCTTTTTCAAAT	0.318000													1	1	1	1	1	1	0.999699	12	19	0	27	1	8.979063e-01	4	5	0	27	5
ETFDH	2110	broad.mit.edu	37	4	159627345	159627345	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:159627345C>T	ENST00000511912.1	+	11	1622	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L	ETFDH_ENST00000307738.5_Silent_p.L383L	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	9	22	0	40	430					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			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TAAAAGGACTCCATGTAACTG	0.373000													1	0	1	1	0	1	0.996475	9	23	0	49	1	9.969760e-01	15	18	0	49	3
FSTL5	56884	broad.mit.edu	37	4	162841649	162841649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:162841649C>A	ENST00000306100.5	-	4	752	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	FSTL5_ENST00000379164.4_Nonsense_Mutation_p.E105*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.E105*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.E105*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	17	25	0	55	106	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCATAGAATTCTCCGTCAGAT	0.438000													1	1	1	1	1	1	0.999999	19	28	0	58	0	0	0	0	0	58	5
NPY5R	4889	broad.mit.edu	37	4	164272343	164272343	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:164272343G>T	ENST00000515560.1	+	4	2440	c.918G>T	c.(916-918)gaG>gaT	p.E306D	NPY5R_ENST00000506953.1_Missense_Mutation_p.E306D|NPY5R_ENST00000338566.3_Missense_Mutation_p.E306D			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	16	40	0	59	306					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CTTCTCAAGAGAACCACTCCA	0.418000													1	1	1	1	1	1	0.999988	17	42	0	64	0	0	0	0	0	64	5
ANXA10	11199	broad.mit.edu	37	4	169086427	169086427	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:169086427T>C	ENST00000359299.3	+	6	616	c.430T>C	c.(430-432)Tat>Cat	p.Y144H		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	13	24	0	26	144							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGAGGACATTTATTCAGAGAC	0.333000													1	1	1	1	1	1	0.999964	15	27	0	30	1	9.999995e-01	44	23	0	30	5
DDX60	55601	broad.mit.edu	37	4	169201497	169201497	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:169201497C>T	ENST00000393743.3	-	14	2258	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	24	49	0	71	656							ATP binding|ATP-dependent helicase activity|RNA binding	p.R656Q(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCTTCACTTCGGCAATGTTC	0.363000													1	1	1	1	1	1	1.000000	27	54	0	84	1	9.891909e-01	8	10	0	84	5
DDX60L	91351	broad.mit.edu	37	4	169317216	169317216	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:169317216T>G	ENST00000511577.1	-	27	3798	c.3551A>C	c.(3550-3552)gAa>gCa	p.E1184A	DDX60L_ENST00000260184.7_Missense_Mutation_p.E1184A|DDX60L_ENST00000505890.1_Missense_Mutation_p.E1185A			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	10	19	0	16	1184							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ATTAATATATTCAGCTCTATA	0.308000													0	0	1	1	1	1	0.998508	10	19	0	16	0	1.330645e-01	0	2	0	16	3
GLRA3	8001	broad.mit.edu	37	4	175565138	175565138	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:175565138C>A	ENST00000274093.3	-	10	1696	c.1194G>T	c.(1192-1194)atG>atT	p.M398I	GLRA3_ENST00000340217.5_Missense_Mutation_p.M383I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	21	55	0	124	398					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			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		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)	CCTTTGGAGTCATGCCATCCT	0.473000													1	0	1	1	1	1	0.999999	21	60	0	139	0	0	0	0	0	139	4
SPATA4	132851	broad.mit.edu	37	4	177113898	177113898	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:177113898C>A	ENST00000515234.1	-	3	1644	c.49G>T	c.(49-51)Gat>Tat	p.D17Y	SPATA4_ENST00000280191.2_Missense_Mutation_p.D190Y			Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	7	23	0	45	190					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		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)		CTAATGTTATCTTTAATAGAC	0.368000													1	0	1	1	1	1	0.985191	7	23	0	46	0	0	0	0	0	46	4
SPATA4	132851	broad.mit.edu	37	4	177114180	177114180	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:177114180T>C	ENST00000280191.2	-	3	504	c.396A>G	c.(394-396)ggA>ggG	p.G132G	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	15	24	0	15	132					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		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)		AATGAATTGTTCCATGGATTA	0.284000													0	1	1	1	1	1	0.999965	15	26	0	15	0	0	0	1	0	15	4
TENM3	55714	broad.mit.edu	37	4	183714933	183714933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:183714933G>T	ENST00000511685.1	+	26	7231	c.7108G>T	c.(7108-7110)Gaa>Taa	p.E2370*	TENM3_ENST00000406950.2_Nonsense_Mutation_p.E2370*					teneurin transmembrane protein 3	15	45	0	52																		ACCTGACATAGAAATCTGGAA	0.413000													1	1	1	1	1	1	0.999994	18	48	0	57	1	9.999996e-01	19	65	0	57	5
ING2	3622	broad.mit.edu	37	4	184431545	184431545	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:184431545G>T	ENST00000302327.3	+	2	485	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	ING2_ENST00000434682.2_Nonsense_Mutation_p.E55*	NM_001564.2	NP_001555.1	Q9H160	ING2_HUMAN	inhibitor of growth family, member 2	42	90	0	136	95					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			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		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)		TAATAGTCAAGAATTGGGAGA	0.368000													1	1	1	1	1	1	1.000000	47	98	0	150	1	1	60	40	0	150	5
TRAPPC11	60684	broad.mit.edu	37	4	184598657	184598657	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:184598657G>T	ENST00000334690.6	+	8	983	c.781G>T	c.(781-783)Gaa>Taa	p.E261*	TRAPPC11_ENST00000357207.4_Nonsense_Mutation_p.E261*|TRAPPC11_ENST00000511409.1_3'UTR	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	10	53	0	51	261																	GAGAGCCCATGAAACTAATAT	0.308000													1	1	1	1	1	1	0.999385	12	63	0	56	0	4.573614e-01	0	9	0	56	5
ENPP6	133121	broad.mit.edu	37	4	185012528	185012528	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185012528T>G	ENST00000296741.2	-	8	1266	c.1125A>C	c.(1123-1125)aaA>aaC	p.K375N		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	5	97	0	98	375					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-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;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TGAAGTTGGATTTGAAATCTG	0.507000													1	0	1	1	0	1	0.966338	6	105	0	110	0	0	0	1	0	110	3
CCDC111	0	broad.mit.edu	37	4	185580506	185580506	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185580506T>C	ENST00000314970.6	+	4	626	c.193T>C	c.(193-195)Ttt>Ctt	p.F65L	CCDC111_ENST00000515774.1_5'UTR|CCDC111_ENST00000503752.1_Missense_Mutation_p.F65L|CCDC111_ENST00000512834.1_Missense_Mutation_p.F65L	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		28	32	0	64	65					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		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)		CGTTCATGTATTTGCTTTGGA	0.338000													1	1	1	1	1	1	1.000000	29	37	0	70	1	8.770745e-01	5	2	0	70	5
CCDC111	0	broad.mit.edu	37	4	185593505	185593505	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185593505G>A	ENST00000314970.6	+	7	1168	c.735G>A	c.(733-735)tcG>tcA	p.S245S	CCDC111_ENST00000515774.1_Silent_p.S116S|CCDC111_ENST00000503752.1_Silent_p.S245S|CCDC111_ENST00000512834.1_Silent_p.S245S	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		32	51	0	57	245					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		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)		GCTGGACATCGAATTCAAAGA	0.428000													1	1	1	1	1	1	1.000000	32	53	0	58	1	9.984158e-01	10	11	0	58	5
ACSL1	2180	broad.mit.edu	37	4	185681620	185681620	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185681620T>C	ENST00000515030.1	-	18	1998	c.1673A>G	c.(1672-1674)cAc>cGc	p.H558R	ACSL1_ENST00000504342.1_Missense_Mutation_p.H558R|ACSL1_ENST00000281455.2_Missense_Mutation_p.H558R|ACSL1_ENST00000454703.2_Missense_Mutation_p.H387R|ACSL1_ENST00000513317.1_Missense_Mutation_p.H558R|ACSL1_ENST00000437665.3_Missense_Mutation_p.H387R|ACSL1_ENST00000507295.1_Missense_Mutation_p.H524R			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	123	255	0	354	558					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			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		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)	CTTAAATATGTGCTTTTTCCG	0.463000													1	1	1	1	1	1	1.000000	140	284	0	405	1	9.970187e-01	3	18	0	405	5
ACSL1	2180	broad.mit.edu	37	4	185697685	185697685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:185697685G>A	ENST00000515030.1	-	7	1034	c.709C>T	c.(709-711)Cga>Tga	p.R237*	ACSL1_ENST00000504342.1_Nonsense_Mutation_p.R237*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.R237*|ACSL1_ENST00000504900.1_Nonsense_Mutation_p.R237*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.R66*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.R237*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.R66*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.R203*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	28	53	0	92	237					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			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		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)	CTCTGGCCTCGTTCCACCAGT	0.517000													1	1	1	1	1	1	1.000000	29	59	0	100	0	8.443436e-01	1	8	0	100	5
KIAA1430	57587	broad.mit.edu	37	4	186111423	186111423	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:186111423T>G	ENST00000458385.2	-	2	1047	c.928A>C	c.(928-930)Aaa>Caa	p.K310Q	KIAA1430_ENST00000514798.1_Missense_Mutation_p.K310Q|KIAA1430_ENST00000296775.6_Missense_Mutation_p.K310Q	NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	12	19	0	18	310										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		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)		TCTTTCCCTTTTTTGGCTGCT	0.333000													1	1	1	1	1	1	0.999686	12	20	0	20	1	9.933809e-01	5	14	0	20	5
CCDC110	256309	broad.mit.edu	37	4	186380484	186380484	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:186380484G>A	ENST00000307588.3	-	6	1332	c.1257C>T	c.(1255-1257)tcC>tcT	p.S419S	CCDC110_ENST00000393540.3_Silent_p.S382S|CCDC110_ENST00000510617.1_Silent_p.S419S	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	21	64	0	71	419						nucleus		p.S419S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		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)		GCTCAGTAACGGAATTAACTT	0.318000													1	1	1	1	1	1	0.999999	21	67	0	76	0	0	0	0	0	76	5
CYP4V2	285440	broad.mit.edu	37	4	187120134	187120134	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187120134G>T	ENST00000378802.4	+	6	1002	c.698G>T	c.(697-699)aGa>aTa	p.R233I		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	13	38	0	54	233					response to stimulus|visual perception	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			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		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;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		ATATTTCGAAGAATAAAGATG	0.373000													1	1	1	1	1	1	0.999975	16	41	0	60	1	5.459730e-01	2	4	0	60	5
KLKB1	3818	broad.mit.edu	37	4	187175855	187175855	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187175855A>C	ENST00000264690.6	+	12	1614	c.1427A>C	c.(1426-1428)aAa>aCa	p.K476T	KLKB1_ENST00000513864.1_Missense_Mutation_p.K476T	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	24	34	0	50	476	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		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)		CAAAACTATAAAGTCTCAGAA	0.363000													1	1	1	1	1	1	1.000000	24	36	0	52	0	0	0	0	0	52	5
FAT1	2195	broad.mit.edu	37	4	187509932	187509932	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187509932G>A	ENST00000441802.2	-	27	13790	c.13581C>T	c.(13579-13581)ttC>ttT	p.F4527F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	25	39	0	65	4527					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			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGGCGCCTCGAAGTGTCTTT	0.562000										HNSCC(5;0.00058)			1	1	1	1	1	1	1.000000	25	47	0	67	1	1	120	179	0	67	5
FAT1	2195	broad.mit.edu	37	4	187539012	187539012	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187539012C>T	ENST00000441802.2	-	10	8937	c.8728G>A	c.(8728-8730)Gat>Aat	p.D2910N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	12	71	0	74	2910	Cadherin 26.				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			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGTTGACATCGGTGACGGTA	0.478000										HNSCC(5;0.00058)			1	1	1	1	1	1	0.999359	12	71	0	77	1	8.698056e-01	5	19	0	77	5
FAT1	2195	broad.mit.edu	37	4	187542357	187542357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:187542357G>A	ENST00000441802.2	-	10	5592	c.5383C>T	c.(5383-5385)Cga>Tga	p.R1795*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	14	23	0	41	1795	Cadherin 16.				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			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCAGCTGCTCGAATCACCAGT	0.428000										HNSCC(5;0.00058)			1	1	1	1	1	1	0.999930	14	23	0	42	0	4.947735e-01	1	3	0	42	5
TRIML2	205860	broad.mit.edu	37	4	189022278	189022278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:189022278C>A	ENST00000512729.1	-	3	636	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	TRIML2_ENST00000536972.1_Nonsense_Mutation_p.E138*|TRIML2_ENST00000326754.3_Nonsense_Mutation_p.E88*	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	13	21	0	36	88							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		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)		AGAAGGGTTTCTCTCAGGTTC	0.438000													1	1	1	1	1	1	0.999971	15	22	0	40	0	0	0	0	0	40	5
TRIML1	339976	broad.mit.edu	37	4	189061694	189061694	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr4:189061694G>A	ENST00000332517.3	+	2	561	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	17	35	0	63	141					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		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)		GAAACTCCAGGAAATCCTGAA	0.493000													1	1	1	1	1	1	0.999998	19	36	0	70	0	0	0	0	0	70	5
SDHA	6389	broad.mit.edu	37	5	251454	251454	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:251454A>G	ENST00000264932.6	+	13	1780	c.1663_splice	c.e13-1	p.G555_splice	SDHA_ENST00000504309.1_Intron|SDHA_ENST00000510361.1_Splice_Site_p.G507_splice	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	12	27	0	67	555			G -> E (in MT-C2D and CMD1GG).		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			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGTCCCCAGGAATGGTCTGGA	0.607000									Familial Paragangliomas				0	0	1	0	0	1	0.999604	12	27	0	49	1	1	102	129	0	49	1
AHRR	57491	broad.mit.edu	37	5	353941	353941	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:353941C>T	ENST00000316418.5	+	3	215	c.171C>T	c.(169-171)ttC>ttT	p.F57F	AHRR_ENST00000515206.1_Silent_p.F53F|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000505113.1_Silent_p.F57F	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	20	55	0	91	57	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TGCTGCCGTTCCCGCCTGACA	0.622000													1	1	1	1	1	1	0.999998	20	60	0	95	0	0	0	0	0	95	5
AHRR	57491	broad.mit.edu	37	5	354006	354006	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:354006G>A	ENST00000316418.5	+	3	280	c.236G>A	c.(235-237)cGg>cAg	p.R79Q	AHRR_ENST00000515206.1_Missense_Mutation_p.R75Q|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000505113.1_Missense_Mutation_p.R79Q	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	22	51	0	67	79	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGTTACCTCCGGGTGAAGAGC	0.597000													1	1	1	1	1	1	1.000000	25	56	0	75	0	2.357295e-01	1	2	0	75	5
ZDHHC11B	653082	broad.mit.edu	37	5	733877	733877	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:733877G>A	ENST00000508859.2	-	8	1045	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L	ZDHHC11B_ENST00000382776.4_Missense_Mutation_p.S338L|ZDHHC11_ENST00000424784.2_Intron					zinc finger, DHHC-type containing 11B	12	29	0	33											lung(3)|stomach(1)	4						CTGTGCCTTCGAATCCCCGTC	0.547000													1	0	0	1	0	1	0.999803	13	30	0	29	0	0	0	1	0	29	2
SLC12A7	10723	broad.mit.edu	37	5	1057651	1057651	+	Silent	SNP	G	G	A	rs139553130		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1057651G>A	ENST00000264930.5	-	22	3004	c.2961C>T	c.(2959-2961)atC>atT	p.I987I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	75	123	0	206	987					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	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)	ACTTCTCAGCGATCAGCTTCT	0.612000													1	1	1	1	1	1	1.000000	84	133	0	227	1	1	38	51	0	227	5
SLC6A3	6531	broad.mit.edu	37	5	1420693	1420693	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:1420693G>A	ENST00000270349.9	-	6	1045	c.918C>T	c.(916-918)tgC>tgT	p.C306C	SLC6A3_ENST00000453492.2_Silent_p.C306C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	49	88	0	140	306					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			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)	CAGACGCCTCGCAGAGCCGGT	0.592000													1	1	1	1	1	1	1.000000	53	98	0	148	0	0	0	0	0	148	5
ADAMTS16	170690	broad.mit.edu	37	5	5146327	5146327	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:5146327G>T	ENST00000274181.7	+	3	398	c.260G>T	c.(259-261)aGa>aTa	p.R87I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R87I|CTD-2297D10.1_ENST00000514848.1_RNA	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	18	52	0	72	87					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGGCGGAGAAGAGCAGTGCCC	0.542000													1	1	1	1	1	1	0.999997	19	54	0	77	0	7.368421e-02	1	1	0	77	5
ADAMTS16	170690	broad.mit.edu	37	5	5262810	5262810	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:5262810G>T	ENST00000274181.7	+	18	2841	c.2703G>T	c.(2701-2703)aaG>aaT	p.K901N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	19	39	0	80	901	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGACCTGAAGTTTCAAGTAA	0.502000													1	1	1	1	1	1	0.999998	19	42	0	87	1	4.935208e-01	2	3	0	87	5
NSUN2	54888	broad.mit.edu	37	5	6607343	6607343	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:6607343T>G	ENST00000264670.6	-	13	1789	c.1478A>C	c.(1477-1479)aAt>aCt	p.N493T	NSUN2_ENST00000506139.1_Missense_Mutation_p.N458T|NSUN2_ENST00000539938.1_Missense_Mutation_p.N257T	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	69	136	0	163	493						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACTGCCATTATTCTCTAAATC	0.438000													1	1	1	1	1	1	1.000000	82	157	0	189	1	1	56	67	0	189	5
ADCY2	108	broad.mit.edu	37	5	7784477	7784477	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7784477G>T	ENST00000338316.4	+	19	2473		c.e19-1		ADCY2_ENST00000537121.1_Splice_Site	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	9	23	0	33						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			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTTTTAATAGACCAGGCATT	0.393000													1	0	1	1	1	1	0.996410	9	24	0	38	0	0	0	0	0	38	4
ADCY2	108	broad.mit.edu	37	5	7817025	7817025	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7817025C>A	ENST00000338316.4	+	23	3019	c.2930C>A	c.(2929-2931)gCt>gAt	p.A977D	ADCY2_ENST00000537121.1_Missense_Mutation_p.A797D	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	19	51	0	61	977					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			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTGGAGTTTGCTTTTGCCCTG	0.507000											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999999	20	53	0	67	0	0	0	1	0	67	5
MTRR	4552	broad.mit.edu	37	5	7870968	7870968	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7870968G>A	ENST00000264668.2	+	2	172	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	MTRR_ENST00000341013.6_Missense_Mutation_p.E21K|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_Missense_Mutation_p.E21K	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	6	62	0	73	48	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CATCGCAGAAGAAATATGTGA	0.428000													1	1	1	1	0	1	0.967229	6	64	0	78	1	5.367760e-01	2	17	0	78	4
MTRR	4552	broad.mit.edu	37	5	7873611	7873611	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:7873611C>A	ENST00000264668.2	+	3	366	c.336C>A	c.(334-336)ttC>ttA	p.F112L	MTRR_ENST00000341013.6_Intron|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000440940.2_Missense_Mutation_p.F85L	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	30	55	0	74	112	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CGGTTGATTTCTTTGCTCACC	0.448000													1	1	1	1	1	1	1.000000	32	60	0	81	0	8.641431e-01	1	2	0	81	5
SEMA5A	9037	broad.mit.edu	37	5	9154778	9154778	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:9154778G>A	ENST00000382496.5	-	12	1968	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	35	54	0	100	435	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGATTCAGGGGTACCCGCACT	0.512000													1	1	1	1	1	1	1.000000	38	61	0	108	0	0	0	1	0	108	5
CTNND2	1501	broad.mit.edu	37	5	11018149	11018149	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:11018149C>T	ENST00000304623.8	-	18	3210	c.3021G>A	c.(3019-3021)aaG>aaA	p.K1007K	CTNND2_ENST00000511377.1_Silent_p.K916K|CTNND2_ENST00000503622.1_Silent_p.K670K|CTNND2_ENST00000359640.2_Silent_p.K949K|CTNND2_ENST00000458100.2_Silent_p.K574K|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	7	35	0	41	1007					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GAGATGCAGCCTTGACCACTT	0.473000													1	1	1	1	1	1	0.991552	8	39	0	45	1	9.022949e-01	10	13	0	45	5
DNAH5	1767	broad.mit.edu	37	5	13753382	13753382	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13753382T>C	ENST00000265104.4	-	63	10936	c.10832A>G	c.(10831-10833)aAg>aGg	p.K3611R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	21	38	0	53	3611	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATCCAGATCTTGCCTTGAGT	0.368000									Kartagener syndrome				1	1	1	1	1	1	1.000000	21	42	0	59	0	0	0	1	0	59	5
DNAH5	1767	broad.mit.edu	37	5	13753429	13753429	+	Silent	SNP	C	C	T	rs144055129		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13753429C>T	ENST00000265104.4	-	63	10889	c.10785G>A	c.(10783-10785)acG>acA	p.T3595T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	5	59	0	64	3595	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAGATGCCTTCGTGACAATAA	0.383000									Kartagener syndrome				1	0	1	1	0	1	0.940023	5	62	0	67	0	8.695652e-03	1	1	0	67	3
DNAH5	1767	broad.mit.edu	37	5	13766094	13766094	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13766094C>T	ENST00000265104.4	-	59	10196	c.10092G>A	c.(10090-10092)caG>caA	p.Q3364Q	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	45	69	0	114	3364	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGTAAGTTCTGTAAAAAGT	0.408000									Kartagener syndrome				1	1	1	1	1	1	1.000000	53	82	0	131	0	0	0	0	0	131	5
DNAH5	1767	broad.mit.edu	37	5	13866373	13866373	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13866373C>T	ENST00000265104.4	-	26	4176	c.4072G>A	c.(4072-4074)Ggc>Agc	p.G1358S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	10	12	0	36	1358	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCTTCAAGCCGCTAGCCATT	0.318000									Kartagener syndrome				1	1	1	1	1	1	0.999471	11	14	0	40	0	0	0	0	0	40	5
DNAH5	1767	broad.mit.edu	37	5	13871097	13871097	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:13871097C>T	ENST00000265104.4	-	24	3717	c.3613G>A	c.(3613-3615)Gcc>Acc	p.A1205T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	14	36	0	57	1205	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAGTCAGGGCGAACTTCAAG	0.403000									Kartagener syndrome				1	1	1	1	1	1	0.999948	15	40	0	62	0	0	0	0	0	62	5
FAM105A	54491	broad.mit.edu	37	5	14607452	14607452	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:14607452T>C	ENST00000274217.3	+	6	632	c.512T>C	c.(511-513)cTg>cCg	p.L171P		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	23	35	0	50	171										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CCTGAAAAACTGCTGTTTTCA	0.378000													1	1	1	1	1	1	1.000000	25	39	0	55	1	9.999857e-01	15	21	0	55	5
FAM105B	90268	broad.mit.edu	37	5	14690293	14690293	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:14690293A>T	ENST00000284274.4	+	6	818	c.740A>T	c.(739-741)aAa>aTa	p.K247I		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	16	31	0	36	247										breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TATAATGATAAAGAGAAAGGA	0.413000													1	1	1	1	1	1	0.999992	17	32	0	38	1	9.675276e-01	4	10	0	38	5
MYO10	4651	broad.mit.edu	37	5	16701878	16701878	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:16701878G>A	ENST00000513610.1	-	25	3080	c.2626C>T	c.(2626-2628)Cgt>Tgt	p.R876C	MYO10_ENST00000274203.9_Missense_Mutation_p.R233C|MYO10_ENST00000505695.1_Missense_Mutation_p.R215C|MYO10_ENST00000427430.2_Missense_Mutation_p.R233C|MYO10_ENST00000515803.1_Missense_Mutation_p.R215C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	15	30	0	45	876					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCAGTTCACGGGTCAGTTCA	0.507000													1	1	1	1	1	1	0.999953	15	35	0	48	1	9.758727e-01	10	8	0	48	5
CDH18	1016	broad.mit.edu	37	5	19503077	19503077	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:19503077A>G	ENST00000511273.1	-	10	2031	c.1654T>C	c.(1654-1656)Ttt>Ctt	p.F552L	CDH18_ENST00000507958.1_Intron|CDH18_ENST00000274170.4_Intron|CDH18_ENST00000382275.1_Intron|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000502796.1_Intron			Q13634	CAD18_HUMAN	cadherin 18, type 2	19	21	0	38	0	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACATAGATAAACAAATATGTG	0.348000													1	0	0	1	0	1	1.000000	20	22	0	39	0	0	0	0	0	39	2
PRDM9	56979	broad.mit.edu	37	5	23522975	23522975	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:23522975A>G	ENST00000296682.3	+	8	1045	c.863A>G	c.(862-864)aAc>aGc	p.N288S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	38	71	0	128	288	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGGCAGCCAACAATGGATAC	0.527000										HNSCC(3;0.000094)			1	1	1	1	1	1	1.000000	40	75	0	142	0	0	0	0	0	142	5
CDH10	1008	broad.mit.edu	37	5	24509887	24509887	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:24509887G>A	ENST00000264463.4	-	7	1551	c.1044C>T	c.(1042-1044)gtC>gtT	p.V348V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	12	18	0	34	348	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTCTGCTTCGACTTTCAGAG	0.378000										HNSCC(23;0.051)			1	1	1	1	1	1	0.999869	13	19	0	39	0	0	0	0	0	39	5
CDH10	1008	broad.mit.edu	37	5	24535873	24535873	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:24535873G>A	ENST00000264463.4	-	4	1092	c.585C>T	c.(583-585)agC>agT	p.S195S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	16	24	0	58	195	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S195R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGACTCTGGCGCTGTTCCCAT	0.453000										HNSCC(23;0.051)			1	1	1	1	1	1	0.999997	18	24	0	61	0	0	0	0	0	61	5
ZFR	51663	broad.mit.edu	37	5	32403220	32403220	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:32403220T>A	ENST00000265069.8	-	8	1609	c.1507A>T	c.(1507-1509)Aat>Tat	p.N503Y		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	23	33	0	62	503					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CCAACAAAATTTATTTTGGGG	0.418000													1	1	1	1	1	1	1.000000	28	36	0	70	1	9.999997e-01	13	29	0	70	5
ZFR	51663	broad.mit.edu	37	5	32404114	32404114	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:32404114G>T	ENST00000265069.8	-	7	1223	c.1121C>A	c.(1120-1122)tCt>tAt	p.S374Y		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	20	53	0	78	374					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CCCACGAGTAGAACTGTTGCT	0.423000													1	1	1	1	1	1	0.999999	21	58	0	85	1	9.997551e-01	22	21	0	85	5
NPR3	4883	broad.mit.edu	37	5	32786419	32786419	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:32786419G>A	ENST00000265074.8	+	8	1937	c.1594G>A	c.(1594-1596)Gat>Aat	p.D532N	NPR3_ENST00000415685.2_Missense_Mutation_p.D315N|NPR3_ENST00000434067.2_Missense_Mutation_p.D316N|NPR3_ENST00000415167.2_Missense_Mutation_p.D531N	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	5	13	0	16	532					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			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ATTACGGGAAGATTCCATCAG	0.413000													1	0	1	1	1	1	0.987210	7	14	0	19	1	7.864299e-01	5	3	0	19	4
TARS	6897	broad.mit.edu	37	5	33467054	33467054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:33467054C>T	ENST00000265112.3	+	18	2298	c.1987C>T	c.(1987-1989)Cga>Tga	p.R663*	TARS_ENST00000414361.2_Nonsense_Mutation_p.R542*|TARS_ENST00000541634.1_Nonsense_Mutation_p.R559*|TARS_ENST00000455217.2_Nonsense_Mutation_p.R696*|TARS_ENST00000502553.1_Nonsense_Mutation_p.R663*	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	15	32	0	46	663					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	p.R663*(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TAAAAAGATTCGAAATGCACA	0.373000													1	1	1	1	1	1	0.999995	18	39	0	53	1	1	114	170	0	53	5
RXFP3	51289	broad.mit.edu	37	5	33937052	33937052	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:33937052C>T	ENST00000330120.3	+	1	562	c.207C>T	c.(205-207)ggC>ggT	p.G69G		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	30	44	0	105	69						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CGGGCAGCGGCGGGGCAGAGA	0.697000													1	1	1	1	1	1	1.000000	30	61	0	109	0	0	0	0	0	109	5
AMACR	23600	broad.mit.edu	37	5	34005876	34005876	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:34005876A>T	ENST00000335606.6	-	2	464	c.376T>A	c.(376-378)Tat>Aat	p.Y126N	AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382085.3_Missense_Mutation_p.Y126N|AMACR_ENST00000382072.2_Missense_Mutation_p.Y126N|AMACR_ENST00000502637.1_Missense_Mutation_p.Y126N|AMACR_ENST00000441713.2_Missense_Mutation_p.Y126N	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	24	38	0	47	126					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AAAGCCAAATAGTTGATATCG	0.388000													1	1	1	1	1	1	1.000000	27	41	0	50	1	9.807712e-01	5	8	0	50	5
IL7R	3575	broad.mit.edu	37	5	35860991	35860991	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:35860991C>T	ENST00000303115.3	+	2	249	c.120C>T	c.(118-120)ttC>ttT	p.F40F	IL7R_ENST00000511982.1_Silent_p.F40F|IL7R_ENST00000506850.1_Silent_p.F40F|IL7R_ENST00000343305.4_Silent_p.F40F|IL7R_ENST00000511031.1_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	19	94	0	140	40					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTACTCATTCTCATGCTATA	0.423000			Mis, O		ALL, ETP ALL		Severe combined immune deficiency						1	1	1	1	1	1	1.000000	23	106	0	149	0	0	0	0	0	149	5
CAPSL	133690	broad.mit.edu	37	5	35910012	35910012	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:35910012T>G	ENST00000397367.2	-	4	607	c.481A>C	c.(481-483)Aaa>Caa	p.K161Q	CAPSL_ENST00000397366.1_Missense_Mutation_p.K161Q|CAPSL_ENST00000514524.1_Missense_Mutation_p.K161Q	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	12	75	0	102	161	EF-hand 4.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCCAGAAATTTCCTAAATACT	0.368000													1	1	1	1	1	1	0.999829	14	87	0	119	1	4.341341e-01	3	7	0	119	5
NIPBL	25836	broad.mit.edu	37	5	36955610	36955610	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:36955610C>A	ENST00000282516.8	+	3	600	c.101C>A	c.(100-102)gCt>gAt	p.A34D	NIPBL_ENST00000448238.2_Missense_Mutation_p.A34D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	15	34	0	81	34					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			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	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)			CCTTTACCTGCTACAACTACA	0.398000													1	1	1	1	1	1	0.999999	20	38	0	91	0	0	1	0	0	91	5
NIPBL	25836	broad.mit.edu	37	5	37022443	37022443	+	Missense_Mutation	SNP	G	G	A	rs148446678		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:37022443G>A	ENST00000282516.8	+	29	6024	c.5525G>A	c.(5524-5526)cGa>cAa	p.R1842Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1842Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	5	13	0	17	1842					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			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	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)			GTCCTTTGTCGACCTCAGCTT	0.368000													1	1	0	1	1	1	0.947670	5	13	0	17	1	9.476698e-01	9	9	0	17	4
C9	735	broad.mit.edu	37	5	39341372	39341372	+	Missense_Mutation	SNP	G	G	A	rs147701327		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:39341372G>A	ENST00000263408.4	-	4	447	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	34	62	0	120	118	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	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)			CCATTACACCGAAGTCGCATC	0.428000													1	1	1	1	1	1	1.000000	38	71	0	129	0	0	0	0	0	129	5
DAB2	1601	broad.mit.edu	37	5	39392476	39392476	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:39392476C>A	ENST00000545653.1	-	4	851	c.321G>T	c.(319-321)gaG>gaT	p.E107D	DAB2_ENST00000339788.6_Missense_Mutation_p.E107D|DAB2_ENST00000509337.1_Missense_Mutation_p.E107D|DAB2_ENST00000512525.1_5'UTR|DAB2_ENST00000320816.6_Missense_Mutation_p.E107D	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	10	16	0	40	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			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCCCAGTTTTCTCATCAATTA	0.458000													1	0	1	1	0	1	0.999324	11	18	0	41	0	9.082037e-01	0	10	0	41	3
TTC33	23548	broad.mit.edu	37	5	40730378	40730378	+	Missense_Mutation	SNP	C	C	T	rs144481517	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:40730378C>T	ENST00000337702.4	-	3	441	c.289G>A	c.(289-291)Gag>Aag	p.E97K	TTC33_ENST00000503936.2_Intron	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	19	34	0	60	97							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GATTTCATCTCGTATAGGGTA	0.358000													1	1	1	1	1	1	1.000000	23	38	0	69	1	8.009107e-01	3	4	0	69	5
C7	730	broad.mit.edu	37	5	40959686	40959686	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:40959686G>A	ENST00000313164.9	+	12	1984	c.1625G>A	c.(1624-1626)aGc>aAc	p.S542N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	14	22	0	37	542	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ACGACAGAAAGCACACAATGC	0.537000													1	1	1	1	1	1	0.999987	16	23	0	43	0	5.451231e-01	0	4	0	43	5
PLCXD3	345557	broad.mit.edu	37	5	41313764	41313764	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:41313764G>T	ENST00000377801.3	-	3	995	c.921C>A	c.(919-921)gtC>gtA	p.V307V	PLCXD3_ENST00000328457.3_Silent_p.V307V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	15	32	0	61	307					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGAGCTTTATGACAGTGCTGA	0.448000													1	1	1	1	1	1	0.999954	15	34	0	68	0	0	0	0	0	68	5
PLCXD3	345557	broad.mit.edu	37	5	41382489	41382489	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:41382489A>C	ENST00000377801.3	-	2	325	c.251T>G	c.(250-252)tTt>tGt	p.F84C	PLCXD3_ENST00000328457.3_Missense_Mutation_p.F84C			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	20	31	0	64	84	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CTGGCCAGTAAAATTCATTGT	0.453000													1	1	1	1	1	1	1.000000	21	31	0	65	0	0	0	0	0	65	5
OXCT1	5019	broad.mit.edu	37	5	41794170	41794170	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:41794170C>T	ENST00000196371.5	-	13	1343	c.1183G>A	c.(1183-1185)Gat>Aat	p.D395N	OXCT1_ENST00000513081.1_5'UTR|OXCT1_ENST00000509987.1_Missense_Mutation_p.D209N|OXCT1_ENST00000512084.1_5'UTR|OXCT1_ENST00000510634.1_5'UTR	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	9	81	0	96	395					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	ATTGTCAGATCGACGTGTCCA	0.398000													1	1	1	1	1	1	0.997359	10	92	0	109	0	4.701028e-01	0	15	0	109	5
PARP8	79668	broad.mit.edu	37	5	50090965	50090965	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:50090965C>T	ENST00000281631.5	+	12	1300	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L	PARP8_ENST00000514067.2_Missense_Mutation_p.S381L|PARP8_ENST00000505697.2_Missense_Mutation_p.S381L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.S134L|PARP8_ENST00000503750.2_Missense_Mutation_p.S381L|PARP8_ENST00000505554.1_Missense_Mutation_p.S360L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	27	68	0	109	381						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ACTCTAAAGTCGCATAGACTA	0.458000													1	0	1	1	1	1	1.000000	30	75	0	122	1	9.972503e-01	13	14	0	122	4
PELO	53918	broad.mit.edu	37	5	52096521	52096521	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52096521C>T	ENST00000274311.2	+	2	1278	c.293C>T	c.(292-294)gCt>gTt	p.A98V	ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	23	34	0	67	98					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				AAGATGGGGGCTTACCACACC	0.582000													1	0	1	1	1	1	0.999988	23	34	1	68	1	9.999318e-01	21	27	1	68	4
ITGA1	3672	broad.mit.edu	37	5	52211328	52211328	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52211328A>C	ENST00000282588.6	+	15	2350	c.1892A>C	c.(1891-1893)aAa>aCa	p.K631T		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	39	63	0	104	631					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AAGACACTGAAATTTTTTGGC	0.423000													1	1	1	1	1	1	1.000000	43	70	0	113	0	9.997131e-01	0	25	0	113	5
ITGA2	3673	broad.mit.edu	37	5	52347299	52347299	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52347299A>C	ENST00000296585.5	+	7	832	c.689A>C	c.(688-690)aAa>aCa	p.K230T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	17	30	0	60	230	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			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AACACATATAAAACCAAAGAA	0.378000													1	1	1	1	1	1	0.999992	17	31	0	64	1	4.533527e-01	4	0	0	64	5
FST	10468	broad.mit.edu	37	5	52780019	52780019	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:52780019T>C	ENST00000396947.3	+	4	783	c.617T>C	c.(616-618)cTc>cCc	p.L206P	FST_ENST00000256759.3_Missense_Mutation_p.L206P	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	24	44	0	90	206	Kazal-like 2.				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			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GAGCAATATCTCTGTGGGAAT	0.522000													1	1	1	1	1	1	1.000000	25	48	0	100	0	2.799043e-01	0	3	0	100	5
HSPB3	8988	broad.mit.edu	37	5	53751869	53751869	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:53751869G>T	ENST00000302005.1	+	1	425	c.250G>T	c.(250-252)Gac>Tac	p.D84Y		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	36	89	0	131	84					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				CCTCCCTGAAGACATCATCAT	0.537000													1	1	1	1	1	1	1.000000	39	96	0	136	0	0	0	0	0	136	5
GZMK	3003	broad.mit.edu	37	5	54329702	54329702	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54329702A>C	ENST00000231009.2	+	5	813	c.743A>C	c.(742-744)aAg>aCg	p.K248T	CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	8	38	0	45	248	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CTGTTAACCAAGAAATACCAG	0.423000													1	1	1	1	1	1	0.998957	11	40	0	47	0	8.276520e-01	0	14	0	47	5
SKIV2L2	23517	broad.mit.edu	37	5	54640967	54640967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54640967C>T	ENST00000230640.5	+	10	1305	c.1051C>T	c.(1051-1053)Cga>Tga	p.R351*	SKIV2L2_ENST00000545714.1_Nonsense_Mutation_p.R250*	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	8	18	0	29	351					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GCAAGTGCTTCGAGATGCAGG	0.358000													1	0	1	1	1	1	0.996615	9	21	0	33	0	9.696934e-01	1	17	0	33	4
SLC38A9	153129	broad.mit.edu	37	5	54931420	54931420	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54931420A>C	ENST00000539768.1	-	11	1232	c.1233T>G	c.(1231-1233)gtT>gtG	p.V411V	SLC38A9_ENST00000416547.2_Silent_p.V287V|SLC38A9_ENST00000396865.2_Silent_p.V411V|SLC38A9_ENST00000515629.1_Silent_p.V348V|SLC38A9_ENST00000318672.3_Silent_p.V411V|SLC38A9_ENST00000512595.1_Silent_p.V348V			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	23	33	0	46	411					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				ATGAAGCAAAAACCAGGACTC	0.388000													1	1	1	1	1	1	1.000000	27	38	0	56	1	9.999903e-01	16	18	0	56	5
SLC38A9	153129	broad.mit.edu	37	5	54948368	54948368	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:54948368A>C	ENST00000539768.1	-	8	940	c.941T>G	c.(940-942)tTt>tGt	p.F314C	SLC38A9_ENST00000416547.2_Missense_Mutation_p.F190C|SLC38A9_ENST00000396865.2_Missense_Mutation_p.F314C|SLC38A9_ENST00000515629.1_Missense_Mutation_p.F251C|SLC38A9_ENST00000318672.3_Missense_Mutation_p.F314C|SLC38A9_ENST00000512595.1_Missense_Mutation_p.F287C			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	6	16	0	17	314					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TAGGATATTAAATTTTGAAAA	0.403000													1	1	1	1	1	1	0.993636	8	16	0	17	1	9.886734e-01	8	13	0	17	5
DDX4	54514	broad.mit.edu	37	5	55076927	55076927	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55076927G>A	ENST00000505374.1	+	9	622	c.530G>A	c.(529-531)cGc>cAc	p.R177H	DDX4_ENST00000353507.5_Missense_Mutation_p.R143H|DDX4_ENST00000514278.2_Missense_Mutation_p.R157H|DDX4_ENST00000354991.5_Missense_Mutation_p.R143H|DDX4_ENST00000511853.1_Missense_Mutation_p.R44H	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	14	34	0	53	177	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTATGCAGCGCACTGGTGGC	0.338000													1	1	1	1	1	1	0.999948	15	40	0	64	0	0	0	0	0	64	5
DDX4	54514	broad.mit.edu	37	5	55081645	55081645	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55081645A>C	ENST00000505374.1	+	13	902	c.810A>C	c.(808-810)aaA>aaC	p.K270N	DDX4_ENST00000353507.5_Missense_Mutation_p.K236N|DDX4_ENST00000514278.2_Missense_Mutation_p.K250N|DDX4_ENST00000354991.5_Missense_Mutation_p.K236N|DDX4_ENST00000511853.1_Missense_Mutation_p.K121N	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	13	29	0	48	270					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTTCGACAAATACGACACTA	0.428000													1	1	1	1	1	1	0.999799	13	31	0	49	0	0	0	0	0	49	5
DDX4	54514	broad.mit.edu	37	5	55109548	55109548	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55109548T>G	ENST00000505374.1	+	19	1755	c.1663T>G	c.(1663-1665)Ttt>Gtt	p.F555V	DDX4_ENST00000353507.5_Missense_Mutation_p.F521V|DDX4_ENST00000514278.2_Missense_Mutation_p.F535V|DDX4_ENST00000354991.5_Missense_Mutation_p.F521V|DDX4_ENST00000511853.1_Missense_Mutation_p.F406V	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	42	61	0	85	555	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			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				AAAAGCAGATTTTATTGCAAC	0.289000													1	1	1	1	1	1	1.000000	46	69	0	102	0	0	0	0	0	102	5
IL31RA	133396	broad.mit.edu	37	5	55195809	55195809	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:55195809C>T	ENST00000396834.1	+	10	1357	c.861C>T	c.(859-861)agC>agT	p.S287S	IL31RA_ENST00000354961.4_Silent_p.S287S|IL31RA_ENST00000447346.2_Silent_p.S306S|IL31RA_ENST00000359040.5_Silent_p.S306S|IL31RA_ENST00000297015.3_Silent_p.S164S|IL31RA_ENST00000490985.1_Silent_p.S164S|IL31RA_ENST00000396836.2_Silent_p.S306S	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	47	70	0	107	274	Fibronectin type-III 3.				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			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ATCCAGAAAGCAACACTAACC	0.413000													1	1	1	1	1	1	1.000000	49	75	0	114	0	0	0	1	0	114	5
GPBP1	65056	broad.mit.edu	37	5	56545382	56545382	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:56545382A>G	ENST00000424459.3	+	10	2285	c.1011A>G	c.(1009-1011)gaA>gaG	p.E337E	GPBP1_ENST00000454432.2_Silent_p.E337E|GPBP1_ENST00000264779.6_Silent_p.E324E|GPBP1_ENST00000511209.1_Silent_p.E309E|GPBP1_ENST00000538707.1_Silent_p.E324E|GPBP1_ENST00000506184.2_Silent_p.E317E|GPBP1_ENST00000514387.2_Silent_p.E146E	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	21	26	0	53	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		ATGAAGATGAAAGCCGTGCTG	0.373000													1	1	1	1	1	1	1.000000	21	28	0	58	1	1	73	99	0	58	5
ELOVL7	79993	broad.mit.edu	37	5	60053346	60053346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:60053346G>T	ENST00000505959.1	-	10	1113	c.587C>A	c.(586-588)tCa>tAa	p.S196*	ELOVL7_ENST00000425382.1_Nonsense_Mutation_p.S209*|ELOVL7_ENST00000508821.1_Nonsense_Mutation_p.S209*|ELOVL7_ENST00000438340.1_Nonsense_Mutation_p.S209*			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	18	45	0	41	209					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			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				AAGCTGTAATGATGTCAAATA	0.353000													1	1	1	1	1	1	0.999999	20	47	0	44	1	8.744566e-01	6	5	0	44	5
CENPK	64105	broad.mit.edu	37	5	64814413	64814413	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:64814413T>G	ENST00000396679.1	-	11	913	c.699A>C	c.(697-699)aaA>aaC	p.K233N	CENPK_ENST00000510693.1_Missense_Mutation_p.K170N|CENPK_ENST00000508421.1_Missense_Mutation_p.K203N|CENPK_ENST00000514814.1_Missense_Mutation_p.K233N|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000242872.3_Missense_Mutation_p.K233N	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	17	34	0	51	233					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AATCACTAATTTTGACATATG	0.343000													1	1	1	1	1	1	0.999990	17	37	0	55	1	9.999996e-01	35	39	0	55	5
TRIM23	373	broad.mit.edu	37	5	64907456	64907456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:64907456C>A	ENST00000231524.9	-	4	990	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	TRIM23_ENST00000274327.7_Nonsense_Mutation_p.E207*|TRIM23_ENST00000381018.3_Nonsense_Mutation_p.E207*	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	24	47	0	102	207					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			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		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)		TTTCCATATTCTTTGCAGACA	0.418000													1	1	1	1	1	1	1.000000	26	52	0	115	0	0	0	1	0	115	5
SGTB	54557	broad.mit.edu	37	5	65016598	65016598	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:65016598G>A	ENST00000381007.4	-	2	272	c.37C>T	c.(37-39)Cgt>Tgt	p.R13C		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	11	23	0	39	13							binding			large_intestine(3)|lung(3)|skin(3)	9		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)		CGTAAGAAACGAATAACTGCA	0.328000													1	1	1	1	1	1	0.999819	13	27	0	45	0	5.317278e-01	1	4	0	45	5
MAST4	375449	broad.mit.edu	37	5	66448468	66448468	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:66448468T>C	ENST00000404260.3	+	25	3616	c.3308T>C	c.(3307-3309)aTg>aCg	p.M1103T	MAST4_ENST00000403666.1_Missense_Mutation_p.M911T|MAST4_ENST00000405643.1_Missense_Mutation_p.M921T|MAST4_ENST00000261569.7_Missense_Mutation_p.M906T|MAST4_ENST00000403625.2_Missense_Mutation_p.M1100T			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	41	66	0	134	1103	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	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)		GTTACAGATATGTTTGCTGTT	0.542000													1	1	1	1	1	1	1.000000	45	68	0	144	0	5.233257e-01	1	3	0	144	5
CD180	4064	broad.mit.edu	37	5	66479942	66479942	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:66479942C>T	ENST00000256447.4	-	3	886	c.729G>A	c.(727-729)caG>caA	p.Q243Q		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	25	43	0	62	243					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		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)		TAGTAGAGTTCTGCAGACCAT	0.408000													1	1	1	1	1	1	1.000000	25	47	0	65	0	0	0	0	0	65	5
OCLN	100506658	broad.mit.edu	37	5	68805396	68805396	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:68805396T>C	ENST00000355237.2	+	3	915	c.479T>C	c.(478-480)gTt>gCt	p.V160A	OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.V160A|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000396442.2_Missense_Mutation_p.V160A	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	49	72	0	114	160	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		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)		GTTACCAGTGTTATAAGATCT	0.438000													1	1	1	1	1	1	1.000000	50	76	0	117	1	9.984267e-01	10	9	0	117	5
CARTPT	9607	broad.mit.edu	37	5	71015769	71015769	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71015769G>T	ENST00000296777.4	+	2	353	c.222G>T	c.(220-222)aaG>aaT	p.K74N	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	27	56	0	81	74					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				large_intestine(1)|lung(2)|ovary(1)	4		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)	TCTATGAGAAGAAGTATGGCC	0.498000													1	1	1	1	1	1	1.000000	31	61	0	90	0	0	0	0	0	90	5
MAP1B	4131	broad.mit.edu	37	5	71489773	71489773	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71489773G>T	ENST00000296755.7	+	5	889	c.591G>T	c.(589-591)aaG>aaT	p.K197N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	30	46	0	78	197						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		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)		GGGACTGGAAGAACTCCAATC	0.433000													1	1	1	1	1	1	1.000000	33	49	0	83	0	0	0	0	0	83	5
MAP1B	4131	broad.mit.edu	37	5	71493698	71493698	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71493698G>T	ENST00000296755.7	+	5	4814	c.4516G>T	c.(4516-4518)Gat>Tat	p.D1506Y		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	27	47	0	70	1506						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		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)		CACACAAATAGATGTCAGTCA	0.428000													1	1	1	1	1	1	1.000000	27	50	0	75	0	0	0	0	0	75	5
MAP1B	4131	broad.mit.edu	37	5	71494405	71494405	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71494405C>T	ENST00000296755.7	+	5	5521	c.5223C>T	c.(5221-5223)atC>atT	p.I1741I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	50	80	0	179	1741						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		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)		CTTCTCAGATCGCTTCTCCTC	0.488000													1	1	1	1	1	1	1.000000	58	90	0	215	0	0	0	0	0	215	5
ZNF366	0	broad.mit.edu	37	5	71756207	71756207	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:71756207C>T	ENST00000318442.5	-	2	1607	c.1117G>A	c.(1117-1119)Gac>Aac	p.D373N		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	20	35	0	77	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTGGGGAAGTCGAGGCCGCAC	0.657000													1	1	1	1	1	1	1.000000	21	39	0	87	0	0	0	1	0	87	5
ARHGEF28	64283	broad.mit.edu	37	5	73163927	73163927	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:73163927T>G	ENST00000545377.1	+	20	2476	c.2300T>G	c.(2299-2301)tTc>tGc	p.F767C	ARHGEF28_ENST00000296794.6_Missense_Mutation_p.F767C|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.F454C|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.F767C|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.F767C|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.F767C|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.F767C	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28	3	18	0	20																		TCTCCTAGCTTCAGGAGGTCA	0.522000													0	0	1	0	0	1	0.813059	3	18	0	21	1	8.130590e-01	2	19	0	21	1
GCNT4	51301	broad.mit.edu	37	5	74325297	74325297	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74325297G>T	ENST00000322348.4	-	1	1427	c.566C>A	c.(565-567)gCt>gAt	p.A189D		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	40	66	0	115	189					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			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TAATTTGGAAGCAATGAAAAT	0.398000													1	1	1	1	1	1	1.000000	44	72	0	119	0	0	0	0	0	119	5
HMGCR	3156	broad.mit.edu	37	5	74655286	74655286	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74655286A>C	ENST00000287936.4	+	18	2518	c.2362A>C	c.(2362-2364)Aat>Cat	p.N788H	HMGCR_ENST00000343975.5_Missense_Mutation_p.N735H|HMGCR_ENST00000511206.1_Missense_Mutation_p.N788H	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	10	30	0	57	788	Catalytic.				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			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		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)	TGGTCCCACAAATGAAGATTT	0.408000													1	1	1	1	1	1	0.999020	11	35	0	63	1	9.998384e-01	28	33	0	63	5
COL4A3BP	10087	broad.mit.edu	37	5	74698848	74698848	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74698848G>T	ENST00000380494.5	-	10	1643	c.1350C>A	c.(1348-1350)ttC>ttA	p.F450L	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.F322L|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.F322L	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	13	28	0	46	322	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			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		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)		CAGCATCAAAGAACTCTTCTT	0.318000													1	1	1	1	1	1	0.999803	13	30	0	53	1	9.872502e-01	8	13	0	53	5
POLK	51426	broad.mit.edu	37	5	74892722	74892722	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:74892722C>A	ENST00000241436.4	+	13	2376	c.2204C>A	c.(2203-2205)tCt>tAt	p.S735Y	POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.S537Y|POLK_ENST00000504026.1_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.S645Y|POLK_ENST00000352007.5_Missense_Mutation_p.S537Y	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	15	31	0	48	735					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		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)		CCAAGCAAGTCTTTTAATATT	0.348000								DNA polymerases (catalytic subunits)					1	1	1	1	1	1	0.999992	17	32	0	52	1	7.538703e-01	4	3	0	52	5
IQGAP2	10788	broad.mit.edu	37	5	75896636	75896636	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:75896636G>T	ENST00000274364.6	+	11	1368		c.e11-1		IQGAP2_ENST00000379730.3_Splice_Site	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	12	45	0	70						small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTTTCCAACAGAACTACTTGG	0.433000													1	1	1	1	1	1	0.999440	12	50	0	76	0	0	0	0	0	76	5
IQGAP2	10788	broad.mit.edu	37	5	75964567	75964567	+	Missense_Mutation	SNP	T	T	C	rs146422169		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:75964567T>C	ENST00000274364.6	+	23	3038	c.2741T>C	c.(2740-2742)tTt>tCt	p.F914S	IQGAP2_ENST00000379730.3_Missense_Mutation_p.F416S|IQGAP2_ENST00000502745.1_Missense_Mutation_p.F410S|IQGAP2_ENST00000396234.3_Missense_Mutation_p.F410S	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	5	25	0	28	914					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TCCACTAAATTTATGGATACT	0.343000													1	1	1	1	1	1	0.943142	5	26	0	30	1	7.000908e-01	9	5	0	30	5
F2RL1	2150	broad.mit.edu	37	5	76115015	76115015	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76115015G>A	ENST00000296677.4	+	1	214	c.8G>A	c.(7-9)aGc>aAc	p.S3N		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	3	13	0	22	3					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			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		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)		AGGATGCGGAGCCCCAGCGCG	0.682000													0	0	1	0	0	1	0.813268	3	15	0	23	1	9.534269e-01	19	16	0	23	1
AGGF1	55109	broad.mit.edu	37	5	76344055	76344055	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76344055C>A	ENST00000312916.7	+	7	1653	c.1271C>A	c.(1270-1272)tCa>tAa	p.S424*		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	7	84	0	102	424					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			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		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)		CAGATAGGATCACTCTTTATC	0.323000													1	0	1	1	0	1	0.981866	7	94	0	117	1	7.976962e-01	2	40	0	117	3
PDE8B	8622	broad.mit.edu	37	5	76645304	76645304	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76645304G>T	ENST00000264917.5	+	8	982	c.937G>T	c.(937-939)Gaa>Taa	p.E313*	PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000340978.3_Intron|PDE8B_ENST00000333194.4_Nonsense_Mutation_p.E313*|PDE8B_ENST00000342343.4_Nonsense_Mutation_p.E293*	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	30	64	0	102	313	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCTGGGAAAAGAACTCGCTGA	0.502000													1	1	1	1	1	1	1.000000	31	65	0	113	0	0	0	1	0	113	5
WDR41	55255	broad.mit.edu	37	5	76729109	76729109	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:76729109A>G	ENST00000296679.4	-	13	1606	c.1231T>C	c.(1231-1233)Ttt>Ctt	p.F411L	WDR41_ENST00000512033.1_5'UTR|WDR41_ENST00000507029.1_Missense_Mutation_p.F356L|WDR41_ENST00000414719.2_Missense_Mutation_p.F157L	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	4	22	0	40	411										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		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)		AAGTATAGAAACATCTGTAAA	0.388000													1	0	1	1	0	1	0.895470	4	23	0	42	1	9.794016e-01	6	44	0	42	3
ARSB	411	broad.mit.edu	37	5	78076220	78076220	+	Nonstop_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:78076220C>A	ENST00000264914.4	-	8	2138	c.1602G>T	c.(1600-1602)taG>taT	p.*534Y		NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	8	78	0	101	0					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		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)		CCCTGAAATCCTACATCCAAG	0.527000													1	1	1	1	0	1	0.990417	8	86	0	116	0	3.445768e-01	0	13	0	116	4
DMGDH	29958	broad.mit.edu	37	5	78350097	78350097	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:78350097T>C	ENST00000255189.3	-	4	478	c.450A>G	c.(448-450)caA>caG	p.Q150Q	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	15	41	0	39	150					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		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)		TCCGAGTCATTTGATATTTAA	0.408000													1	1	1	1	1	1	0.999946	15	42	0	43	0	0	0	1	0	43	5
HOMER1	9456	broad.mit.edu	37	5	78734966	78734966	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:78734966C>T	ENST00000334082.6	-	5	1836	c.394G>A	c.(394-396)Gca>Aca	p.A132T	HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.A132T	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	7	50	0	64	132					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		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)		TCCCCGCCTGCGGATTCCTTT	0.418000													1	0	1	1	1	1	0.999998	20	62	0	68	1	6.223277e-01	2	6	0	68	4
CMYA5	202333	broad.mit.edu	37	5	79028508	79028508	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79028508C>A	ENST00000446378.2	+	2	3951	c.3920C>A	c.(3919-3921)tCc>tAc	p.S1307Y		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	9	18	0	20	1307						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		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)		AAACATGATTCCAAAATAACA	0.393000													1	1	1	1	1	1	0.999324	11	19	0	21	0	0	0	0	0	21	5
CMYA5	202333	broad.mit.edu	37	5	79028699	79028699	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79028699G>T	ENST00000446378.2	+	2	4142	c.4111G>T	c.(4111-4113)Gaa>Taa	p.E1371*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	15	16	0	34	1371						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		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)		AGCAGTAAAAGAAGAAATCCC	0.383000													1	1	1	1	1	1	0.999979	15	17	0	37	0	0	0	0	0	37	5
CMYA5	202333	broad.mit.edu	37	5	79084796	79084796	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79084796C>A	ENST00000446378.2	+	10	11589	c.11558C>A	c.(11557-11559)tCt>tAt	p.S3853Y	CTC-431G16.2_ENST00000421252.2_RNA	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	24	39	0	75	3853	Fibronectin type-III 2.					perinuclear region of cytoplasm		p.S3853Y(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		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)		GTATTTAGATCTTTCTCTGGA	0.338000													1	1	1	1	1	1	1.000000	24	39	0	76	0	0	0	0	0	76	5
SPZ1	84654	broad.mit.edu	37	5	79617087	79617087	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79617087G>T	ENST00000296739.4	+	1	1298	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	35	50	0	91	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		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)		CTCTGCAAGAGAAGCCAATTC	0.393000													1	1	0	1	1	1	1.000000	35	52	0	96	0	0	0	0	0	96	4
ZFYVE16	9765	broad.mit.edu	37	5	79734320	79734320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:79734320G>T	ENST00000338008.5	+	3	1996	c.1816G>T	c.(1816-1818)Gaa>Taa	p.E606*	ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.E606*|ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.E606*	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	37	68	0	72	606					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			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		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)		AAATACAATAGAAAATGGCCT	0.313000													1	1	1	1	1	1	1.000000	38	76	0	78	0	2.649523e-01	0	3	0	78	5
ZCCHC9	84240	broad.mit.edu	37	5	80600780	80600780	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:80600780A>C	ENST00000254037.2	+	1	3359	c.204A>C	c.(202-204)ttA>ttC	p.L68F	ZCCHC9_ENST00000407610.3_Missense_Mutation_p.L68F|ZCCHC9_ENST00000506458.1_Intron|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.L68F|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.L68F			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	24	40	0	66	68							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		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)		AAGAGTACTTAAATGAAGATG	0.373000													1	1	1	1	1	1	1.000000	24	40	0	66	1	1	40	37	0	66	5
VCAN	1462	broad.mit.edu	37	5	82816211	82816211	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:82816211A>G	ENST00000265077.3	+	7	2651	c.2086A>G	c.(2086-2088)Aca>Gca	p.T696A	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.T648A|VCAN_ENST00000342785.4_Missense_Mutation_p.T696A|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	13	25	0	46	696	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			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		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)		AGAGATGAGAACAGATACTTA	0.338000													1	1	1	1	1	1	0.999964	15	27	0	46	1	5.883815e-01	3	2	0	46	5
VCAN	1462	broad.mit.edu	37	5	82833745	82833745	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:82833745C>T	ENST00000265077.3	+	8	5488	c.4923C>T	c.(4921-4923)ggC>ggT	p.G1641G	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Silent_p.G654G|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	16	38	0	65	1641	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		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)		TTACAGAAGGCTCTGGAGAAG	0.418000													1	1	1	1	1	1	0.999995	18	38	0	72	1	9.926337e-01	6	15	0	72	5
VCAN	1462	broad.mit.edu	37	5	82837802	82837802	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:82837802C>A	ENST00000265077.3	+	8	9545	c.8980C>A	c.(8980-8982)Cta>Ata	p.L2994I	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.L2007I|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	41	61	0	77	2994	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		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)		GGTGCCTTGGCTAAGTCCACA	0.498000													1	1	1	1	1	1	1.000000	42	61	0	78	1	1	22	74	0	78	5
MEF2C	4208	broad.mit.edu	37	5	88018554	88018554	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:88018554G>A	ENST00000504921.2	-	10	1961	c.1289C>T	c.(1288-1290)tCg>tTg	p.S430L	MEF2C_ENST00000539796.1_Missense_Mutation_p.S374L|MEF2C_ENST00000510942.1_Missense_Mutation_p.S422L|MEF2C_ENST00000340208.5_Missense_Mutation_p.S440L|MEF2C_ENST00000506554.1_3'UTR|MEF2C_ENST00000514015.1_Missense_Mutation_p.S398L|MEF2C_ENST00000424173.2_Missense_Mutation_p.S420L|MEF2C_ENST00000514028.1_Missense_Mutation_p.S430L|CTC-467M3.1_ENST00000510274.1_RNA|MEF2C_ENST00000437473.2_Missense_Mutation_p.S430L|MEF2C_ENST00000508569.1_Missense_Mutation_p.S390L			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	18	114	0	150	430					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			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		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)		CCCGTCGTACGAACTGCTACA	0.592000										HNSCC(66;0.2)			1	1	1	1	1	1	0.999997	20	119	0	156	0	3.389262e-01	1	7	0	156	5
LYSMD3	116068	broad.mit.edu	37	5	89814938	89814938	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:89814938C>A	ENST00000315948.6	-	3	763	c.619G>T	c.(619-621)Gac>Tac	p.D207Y	LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_3'UTR	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	10	97	0	105	207					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		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)		TAATAGGGGTCTTTACGTTGA	0.393000													1	1	1	1	1	1	0.999277	12	110	0	114	0	2.833797e-01	0	10	0	114	5
GPR98	84059	broad.mit.edu	37	5	89938771	89938771	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:89938771C>A	ENST00000405460.2	+	13	2562	c.2466C>A	c.(2464-2466)ttC>ttA	p.F822L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	49	85	0	117	822	Calx-beta 6.				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			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		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)		GCAATGAATTCTATGGAAACA	0.443000													1	1	1	1	1	1	1.000000	51	87	0	127	0	0	0	0	0	127	5
GPR98	84059	broad.mit.edu	37	5	89948330	89948330	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:89948330A>C	ENST00000405460.2	+	19	3680	c.3584A>C	c.(3583-3585)aAa>aCa	p.K1195T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	16	19	0	30	1195	Calx-beta 9.				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			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		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)		TTTCCAGATAAAATTCCTGAA	0.338000													1	0	1	1	0	1	0.999990	16	19	0	32	0	0	0	0	0	32	3
GPR98	84059	broad.mit.edu	37	5	90077323	90077323	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:90077323C>T	ENST00000405460.2	+	65	13255	c.13159C>T	c.(13159-13161)Cgc>Tgc	p.R4387C	GPR98_ENST00000425867.2_Missense_Mutation_p.R48C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	8	11	0	16	4387					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			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		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)		CTCCATTGTTCGCATCATAAT	0.363000													0	1	1	1	1	1	0.994690	8	11	0	17	0	0	0	0	0	17	4
GPR98	84059	broad.mit.edu	37	5	90151704	90151704	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:90151704T>G	ENST00000405460.2	+	82	17837	c.17741T>G	c.(17740-17742)tTt>tGt	p.F5914C	GPR98_ENST00000425867.2_Missense_Mutation_p.F1575C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	16	41	0	63	5914					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			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		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)		ACTTCTGGATTTATATGTATC	0.363000													1	1	1	1	1	1	0.999989	17	41	0	70	0	0	0	0	0	70	5
SPATA9	83890	broad.mit.edu	37	5	95018287	95018287	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:95018287A>G	ENST00000274432.8	-	2	236	c.95T>C	c.(94-96)gTa>gCa	p.V32A	SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Missense_Mutation_p.V32A|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	13	26	0	37	32					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		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)		AAACTCATCTACAAGGTCCAT	0.318000													1	1	1	1	1	1	0.999913	14	29	0	43	0	0	0	0	0	43	5
ELL2	22936	broad.mit.edu	37	5	95242363	95242363	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:95242363G>T	ENST00000237853.4	-	5	954	c.605C>A	c.(604-606)tCt>tAt	p.S202Y	ELL2_ENST00000431061.2_Intron|ELL2_ENST00000506628.1_5'UTR	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	17	100	0	116	202					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		TGGCCTCTGAGAGATGGTGCT	0.488000													1	1	1	1	1	1	0.999977	17	109	0	127	1	9.075994e-01	4	25	0	127	5
PCSK1	5122	broad.mit.edu	37	5	95751803	95751803	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:95751803C>A	ENST00000311106.3	-	6	880	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	PCSK1_ENST00000508626.1_Nonsense_Mutation_p.E168*|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	18	31	0	53	215	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			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		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)	ATGGCAATTTCTCCTGCACAT	0.383000													1	1	1	1	1	1	1.000000	22	35	0	59	0	0	0	0	0	59	5
CAST	831	broad.mit.edu	37	5	96071887	96071887	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96071887G>T	ENST00000395813.1	+	10	828	c.642G>T	c.(640-642)aaG>aaT	p.K214N	CAST_ENST00000511782.1_Missense_Mutation_p.K117N|CAST_ENST00000511049.1_Missense_Mutation_p.K117N|CAST_ENST00000510756.1_Missense_Mutation_p.K192N|CAST_ENST00000509903.1_Missense_Mutation_p.K109N|CAST_ENST00000508830.1_Missense_Mutation_p.K214N|CAST_ENST00000508608.1_Missense_Mutation_p.K177N|CAST_ENST00000504465.1_Intron|CAST_ENST00000395812.2_Missense_Mutation_p.K173N|CAST_ENST00000359176.4_Missense_Mutation_p.K195N|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000341926.3_Missense_Mutation_p.K131N|CAST_ENST00000338252.3_Missense_Mutation_p.K131N|CAST_ENST00000325674.7_Missense_Mutation_p.K192N|CAST_ENST00000309190.5_Missense_Mutation_p.K109N			P20810	ICAL_HUMAN	calpastatin	7	17	0	47	131							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		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)		AAAAAGAAAAGAAATCATTAA	0.318000													1	1	1	1	1	1	0.993175	8	19	0	55	1	9.999993e-01	17	105	0	55	5
CAST	831	broad.mit.edu	37	5	96106290	96106290	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96106290C>T	ENST00000395813.1	+	30	2510	c.2324C>T	c.(2323-2325)gCg>gTg	p.A775V	CAST_ENST00000504465.1_Missense_Mutation_p.A620V|CAST_ENST00000511782.1_Missense_Mutation_p.A678V|CAST_ENST00000511049.1_Missense_Mutation_p.A677V|CAST_ENST00000510756.1_Missense_Mutation_p.A753V|CAST_ENST00000509903.1_Missense_Mutation_p.A657V|CAST_ENST00000508830.1_Missense_Mutation_p.A775V|CAST_ENST00000508608.1_Missense_Mutation_p.A738V|CAST_ENST00000515663.1_Missense_Mutation_p.A415V|CAST_ENST00000395812.2_Missense_Mutation_p.A734V|CAST_ENST00000359176.4_Missense_Mutation_p.A756V|CAST_ENST00000348386.3_3'UTR|ERAP1_ENST00000296754.3_Intron|CAST_ENST00000341926.3_Missense_Mutation_p.A692V|CAST_ENST00000338252.3_Missense_Mutation_p.A679V|CAST_ENST00000325674.7_Missense_Mutation_p.A740V|CAST_ENST00000309190.5_Missense_Mutation_p.A670V|CAST_ENST00000508579.1_Missense_Mutation_p.A407V			P20810	ICAL_HUMAN	calpastatin	6	35	0	32	692							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		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)		GGAGGTAAAGCGAAGGATTCA	0.393000													1	0	1	1	1	1	0.983355	7	42	0	39	1	1	162	296	0	39	4
ERAP2	64167	broad.mit.edu	37	5	96219620	96219620	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96219620T>C	ENST00000437043.3	+	3	1411	c.700T>C	c.(700-702)Tcc>Ccc	p.S234P	ERAP2_ENST00000510309.1_Missense_Mutation_p.S234P|ERAP2_ENST00000379904.4_Missense_Mutation_p.S234P|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	16	21	0	53	234					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			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		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)		TATTGCACTATCCAACATGCC	0.408000													1	1	1	1	1	1	0.999999	19	25	0	60	1	5.786639e-01	3	1	0	60	5
ERAP2	64167	broad.mit.edu	37	5	96235878	96235878	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:96235878G>T	ENST00000437043.3	+	10	2268	c.1557G>T	c.(1555-1557)aaG>aaT	p.K519N	ERAP2_ENST00000379904.4_Missense_Mutation_p.K474N|ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	27	62	0	55	519					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			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		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)		CGGATCCCAAGATGACAAGTA	0.403000													1	1	1	1	1	1	1.000000	31	68	0	64	0	0	0	0	0	64	5
CHD1	1105	broad.mit.edu	37	5	98236676	98236676	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:98236676C>T	ENST00000284049.3	-	6	847	c.698G>A	c.(697-699)cGt>cAt	p.R233H		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	21	42	0	63	233					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			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		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)	TGCTTGGCGACGAGAACTTCT	0.368000													1	1	1	1	1	1	1.000000	24	44	0	69	1	7.653256e-01	4	3	0	69	5
FAM174A	345757	broad.mit.edu	37	5	99871609	99871609	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:99871609G>A	ENST00000312637.4	+	1	601	c.375G>A	c.(373-375)ctG>ctA	p.L125L		NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	17	38	0	72	125						integral to membrane				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGCGGGCCCTGACCGTGTTGA	0.682000													1	1	1	1	1	1	0.999999	20	40	0	85	1	9.999988e-01	26	33	0	85	5
ST8SIA4	7903	broad.mit.edu	37	5	100191882	100191882	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:100191882T>C	ENST00000231461.5	-	4	1032	c.722A>G	c.(721-723)aAt>aGt	p.N241S		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	29	43	0	91	241					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GATTAATGCATTAACCCACTC	0.423000													1	1	1	1	1	1	1.000000	30	46	0	94	1	9.999848e-01	17	17	0	94	5
SLCO4C1	353189	broad.mit.edu	37	5	101576442	101576442	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:101576442A>C	ENST00000310954.6	-	11	2142	c.1856T>G	c.(1855-1857)tTt>tGt	p.F619C		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	35	70	0	108	619					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		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)		AAGGACCATAAATTGTATTCC	0.318000													1	1	1	1	1	1	1.000000	41	79	0	124	0	0	0	0	0	124	5
SLCO4C1	353189	broad.mit.edu	37	5	101583039	101583039	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:101583039T>C	ENST00000310954.6	-	10	2014	c.1728A>G	c.(1726-1728)aaA>aaG	p.K576K		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	30	58	0	77	576					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		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)		ATATGGGCAGTTTCGCACAAT	0.363000													1	1	1	1	1	1	1.000000	34	63	0	83	0	0	1	0	0	83	5
SLCO4C1	353189	broad.mit.edu	37	5	101593765	101593765	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:101593765C>T	ENST00000310954.6	-	7	1441	c.1155G>A	c.(1153-1155)atG>atA	p.M385I		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	10	28	0	32	385					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		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)		GAACTAAACACATAAAGACAG	0.303000													1	0	1	1	1	1	0.998101	10	30	0	40	0	0	0	1	0	40	4
GIN1	54826	broad.mit.edu	37	5	102442537	102442537	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:102442537T>G	ENST00000399004.2	-	3	310	c.216A>C	c.(214-216)aaA>aaC	p.K72N	GIN1_ENST00000508629.1_Missense_Mutation_p.K72N	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	5	15	0	17	72					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		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)		CTCTTAAGACTTTCTTTTTTT	0.348000													1	0	1	1	1	1	0.973097	6	15	0	19	0	8.696700e-01	0	12	0	19	4
PPIP5K2	23262	broad.mit.edu	37	5	102519017	102519017	+	Missense_Mutation	SNP	G	G	A	rs144678063		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:102519017G>A	ENST00000321521.9	+	25	3578	c.3005G>A	c.(3004-3006)cGa>cAa	p.R1002Q	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.R1002Q|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.R1002Q			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	18	31	0	73	1002					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			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACTGGGCGTCGAAGACGCAGA	0.512000													1	1	1	1	1	1	0.999998	19	34	0	79	0	9.802039e-01	1	14	0	79	5
PPIP5K2	23262	broad.mit.edu	37	5	102537329	102537329	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:102537329G>T	ENST00000321521.9	+	30	4236	c.3663G>T	c.(3661-3663)aaG>aaT	p.K1221N	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.K1242N|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.K1221N			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	13	19	0	16	1242					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			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CTGGGAAAAAGAAATGAAATC	0.313000													0	1	1	1	1	1	0.999862	13	20	0	16	1	9.996543e-01	10	19	0	16	4
EFNA5	1946	broad.mit.edu	37	5	106763211	106763211	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:106763211C>A	ENST00000333274.6	-	2	407		c.e2-1		EFNA5_ENST00000509503.1_Splice_Site	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	30	51	0	71						cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		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)		CCTCTGGAATCTGTTAGAAAA	0.393000													1	1	1	1	0	1	1.000000	31	52	0	76	0	9.906866e-01	0	16	0	76	4
FBXL17	64839	broad.mit.edu	37	5	107197556	107197556	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:107197556G>A	ENST00000542267.1	-	9	2377	c.1971C>T	c.(1969-1971)aaC>aaT	p.N657N	FBXL17_ENST00000359660.5_Silent_p.N259N	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	17	33	0	75	657										endometrium(1)|large_intestine(4)|lung(1)	6		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)		CCGTCACTTCGTTGACCTGCA	0.577000													1	1	1	1	1	1	0.999995	18	38	0	82	0	6.269303e-01	1	5	0	82	5
MAN2A1	4124	broad.mit.edu	37	5	109124646	109124646	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:109124646C>T	ENST00000261483.4	+	11	2824	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	10	18	0	36	591					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			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		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)		CTTTTTCATTCGTTAATGGTT	0.313000													1	0	1	1	0	1	0.998461	10	20	0	39	1	7.289627e-01	2	5	0	39	3
MAN2A1	4124	broad.mit.edu	37	5	109202582	109202582	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:109202582C>T	ENST00000261483.4	+	22	4370	c.3318C>T	c.(3316-3318)gtC>gtT	p.V1106V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	27	30	0	54	1106					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			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		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)		AGTTTATTGTCGAAAGTCTCA	0.348000													1	1	1	1	1	1	1.000000	28	31	0	56	1	9.999644e-01	12	13	0	56	5
APC	324	broad.mit.edu	37	5	112151216	112151216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112151216G>T	ENST00000457016.1	+	9	1239	c.859G>T	c.(859-861)Gaa>Taa	p.E287*	APC_ENST00000508376.2_Nonsense_Mutation_p.E287*|APC_ENST00000257430.4_Nonsense_Mutation_p.E287*			P25054	APC_HUMAN	adenomatous polyposis coli	21	36	0	62	287	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			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		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)		AATGGACCATGAAACAGCCAG	0.398000		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			1	1	1	1	1	1	1.000000	23	38	0	74	0	4.897186e-01	1	3	0	74	5
APC	324	broad.mit.edu	37	5	112175120	112175120	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112175120T>G	ENST00000457016.1	+	16	4209	c.3829T>G	c.(3829-3831)Tta>Gta	p.L1277V	APC_ENST00000508376.2_Missense_Mutation_p.L1277V|APC_ENST00000257430.4_Missense_Mutation_p.L1277V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	14	28	0	37	1277	Responsible for down-regulation through a process mediated by direct ubiquitination.|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.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		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)		ATGTAGTTCATTATCATCTTT	0.343000		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			1	1	1	1	1	1	0.999913	14	29	0	40	1	4.073389e-01	2	2	0	40	5
APC	324	broad.mit.edu	37	5	112175861	112175861	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112175861A>G	ENST00000457016.1	+	16	4950	c.4570A>G	c.(4570-4572)Ata>Gta	p.I1524V	APC_ENST00000508376.2_Missense_Mutation_p.I1524V|APC_ENST00000257430.4_Missense_Mutation_p.I1524V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	21	36	0	83	1524	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.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		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)		GGAATTAAGAATAATGCCTCC	0.398000		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			1	1	1	1	1	1	1.000000	21	38	0	88	0	6.892297e-01	0	6	0	88	5
APC	324	broad.mit.edu	37	5	112177901	112177901	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112177901C>T	ENST00000457016.1	+	16	6990	c.6610C>T	c.(6610-6612)Cga>Tga	p.R2204*	APC_ENST00000508376.2_Nonsense_Mutation_p.R2204*|APC_ENST00000257430.4_Nonsense_Mutation_p.R2204*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	22	48	0	78	2204	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)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		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)		TGGAAAAGTTCGATCTAATTC	0.363000		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			1	1	1	1	1	1	1.000000	22	48	0	81	1	9.190880e-01	12	0	0	81	5
APC	324	broad.mit.edu	37	5	112178190	112178190	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112178190C>A	ENST00000457016.1	+	16	7279	c.6899C>A	c.(6898-6900)tCt>tAt	p.S2300Y	APC_ENST00000508376.2_Missense_Mutation_p.S2300Y|APC_ENST00000257430.4_Missense_Mutation_p.S2300Y|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	20	47	0	65	2300	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)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		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)		AAAGCACCTTCTAGATCAGGA	0.493000		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			1	1	1	1	1	1	0.999999	20	49	0	72	1	9.332455e-01	12	2	0	72	5
APC	324	broad.mit.edu	37	5	112179240	112179240	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112179240C>T	ENST00000457016.1	+	16	8329	c.7949C>T	c.(7948-7950)gCt>gTt	p.A2650V	APC_ENST00000508376.2_Missense_Mutation_p.A2650V|APC_ENST00000257430.4_Missense_Mutation_p.A2650V|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	37	49	0	91	2650	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)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		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)		ATGGCACCTGCTGTTTCTAAA	0.418000		12	D, Mis, N, F, S		colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS	colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			1	1	1	1	1	1	1.000000	39	51	0	93	1	9.982049e-01	3	13	0	93	5
ZRSR1	7310	broad.mit.edu	37	5	112227655	112227655	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112227655G>T	ENST00000391338.1	+	1	343	c.319G>T	c.(319-321)Gaa>Taa	p.E107*	SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000513339.1_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	9	10	0	21											breast(1)|skin(1)|stomach(2)	4						atggctagaagaacaagagag	0.423000													1	0	1	1	1	1	0.997805	9	10	0	21	0	1	1	31	0	21	4
REEP5	7905	broad.mit.edu	37	5	112238187	112238187	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:112238187C>A	ENST00000379638.4	-	3	589	c.241G>T	c.(241-243)Gaa>Taa	p.E81*	REEP5_ENST00000504247.1_Intron|REEP5_ENST00000545426.1_Nonsense_Mutation_p.E81*|REEP5_ENST00000474542.2_5'UTR|REEP5_ENST00000513339.1_Nonsense_Mutation_p.E81*	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	16	41	0	65	81						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		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)		GTATCATCTTCTTTGTTGGGA	0.373000													1	1	1	1	1	1	0.999999	20	43	0	72	0	1	1	223	0	72	5
SEMA6A	57556	broad.mit.edu	37	5	115822462	115822462	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:115822462A>C	ENST00000343348.6	-	10	1732	c.945T>G	c.(943-945)ttT>ttG	p.F315L	CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.F315L|SEMA6A_ENST00000510263.1_Missense_Mutation_p.F315L|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	28	62	0	93	315	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		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)		AAGGTGTAGAAAACGTTGCCA	0.438000													1	1	1	1	1	1	1.000000	32	68	0	103	1	9.901718e-01	5	14	0	103	5
DMXL1	1657	broad.mit.edu	37	5	118484688	118484688	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:118484688C>T	ENST00000311085.8	+	18	3246	c.3166C>T	c.(3166-3168)Cgt>Tgt	p.R1056C	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1056C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	59	81	0	163	1056										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		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)		ACATACAAATCGTTTAGCAGT	0.403000													1	1	1	1	1	1	1.000000	62	85	0	173	0	0	0	0	0	173	5
DMXL1	1657	broad.mit.edu	37	5	118556647	118556647	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:118556647C>A	ENST00000311085.8	+	36	8165	c.8085C>A	c.(8083-8085)ttC>ttA	p.F2695L	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.F2716L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	16	27	0	37	2695										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		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)		CAGAAGATTTCTTGGTTATAC	0.343000													1	1	1	1	1	1	0.999992	17	30	0	39	1	7.764932e-01	3	4	0	39	5
SRFBP1	153443	broad.mit.edu	37	5	121355981	121355981	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:121355981C>A	ENST00000339397.4	+	6	623	c.551C>A	c.(550-552)tCa>tAa	p.S184*		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	15	32	0	66	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		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)		ATACATAATTCAAAGGAAAAA	0.358000													1	1	1	1	1	1	0.999953	15	35	0	67	1	9.808215e-01	4	15	0	67	5
ZNF474	133923	broad.mit.edu	37	5	121487801	121487801	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:121487801C>A	ENST00000296600.4	+	2	499	c.116C>A	c.(115-117)tCt>tAt	p.S39Y	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	49	59	0	134	39						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GACTCCTATTCTAGCCTTTCC	0.383000													1	1	1	1	1	1	1.000000	50	63	0	143	1	1.988006e-01	2	0	0	143	5
SNCAIP	9627	broad.mit.edu	37	5	121761114	121761114	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:121761114C>T	ENST00000261367.7	+	7	2639	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V	SNCAIP_ENST00000503116.2_Missense_Mutation_p.A404V|SNCAIP_ENST00000261368.8_Missense_Mutation_p.A357V|SNCAIP_ENST00000504884.2_Silent_p.C66C|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.A404V			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	41	96	0	135	357					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			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		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)		TTACATATTGCGGCGTCACAG	0.453000													1	1	1	1	1	1	1.000000	44	104	0	140	1	9.994387e-01	14	15	0	140	5
SNX2	6643	broad.mit.edu	37	5	122161826	122161826	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122161826G>A	ENST00000379516.2	+	12	1402	c.1294G>A	c.(1294-1296)Gca>Aca	p.A432T	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.A315T	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	13	25	0	36	432					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		TGAAGCTGAAGCAAAAATGAT	0.338000													1	1	1	1	1	1	0.999964	15	27	0	39	1	1	81	115	0	39	5
SNX24	28966	broad.mit.edu	37	5	122281828	122281828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122281828C>T	ENST00000261369.4	+	3	408	c.223C>T	c.(223-225)Cga>Tga	p.R75*	SNX24_ENST00000506996.1_Nonsense_Mutation_p.R75*|SNX24_ENST00000513881.1_Nonsense_Mutation_p.R75*|SNX24_ENST00000395451.4_Nonsense_Mutation_p.R108*|SNX24_ENST00000511211.1_3'UTR	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	11	20	0	34	75	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GGAACAGCGACGACAAGGCTT	0.343000													1	1	1	1	0	1	0.999604	12	26	0	41	1	9.988632e-01	4	29	0	41	4
PPIC	5480	broad.mit.edu	37	5	122364544	122364544	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122364544C>T	ENST00000306442.4	-	3	366	c.251G>A	c.(250-252)gGa>gAa	p.G84E		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	12	26	0	22	84	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		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)	AAACTTGCTTCCTTTATATCC	0.393000													1	1	1	1	1	1	0.999584	12	29	0	23	1	1	123	152	0	23	5
CSNK1G3	1456	broad.mit.edu	37	5	122927093	122927093	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:122927093A>G	ENST00000395412.1	+	10	1790	c.1071A>G	c.(1069-1071)caA>caG	p.Q357Q	CSNK1G3_ENST00000395411.1_Silent_p.Q357Q|CSNK1G3_ENST00000361991.2_Silent_p.Q357Q|CSNK1G3_ENST00000345990.4_Silent_p.Q357Q|CSNK1G3_ENST00000510842.2_Silent_p.Q358Q|CSNK1G3_ENST00000511130.2_Silent_p.Q245Q|CSNK1G3_ENST00000360683.2_Silent_p.Q357Q|CSNK1G3_ENST00000512718.3_Silent_p.Q282Q|CSNK1G3_ENST00000521364.1_Silent_p.Q357Q	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	7	29	0	24	357					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		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)		ATAAGATGCAACAATCCAAAA	0.383000													1	1	1	1	1	1	0.992009	8	31	0	26	1	9.707519e-01	14	14	0	26	5
LMNB1	4001	broad.mit.edu	37	5	126154643	126154643	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:126154643A>G	ENST00000261366.5	+	6	1330	c.969A>G	c.(967-969)gaA>gaG	p.E323E	LMNB1_ENST00000460265.1_3'UTR|LMNB1_ENST00000395354.1_Silent_p.E323E	NM_001198557.1|NM_005573.3	NP_001185486.1|NP_005564.1	P20700	LMNB1_HUMAN	lamin B1	43	61	0	97	323	Coil 2.|Rod.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		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)		GGATTCAAGAATTAGAGGACT	0.398000													1	1	1	1	1	1	1.000000	45	65	0	112	1	1	138	114	0	112	5
ADAMTS19	171019	broad.mit.edu	37	5	128864216	128864216	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:128864216G>T	ENST00000274487.4	+	6	1301	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	15	16	0	52	386	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTTGCAGCCAGAACTATATAT	0.333000													1	1	1	1	1	1	0.999974	15	20	0	57	0	1.934566e-01	0	2	0	57	5
KIF3A	11127	broad.mit.edu	37	5	132046653	132046653	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132046653C>T	ENST00000378746.4	-	9	1444	c.1226G>A	c.(1225-1227)aGg>aAg	p.R409K	AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000378735.1_Missense_Mutation_p.R409K|KIF3A_ENST00000403231.1_Missense_Mutation_p.R409K	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	24	49	0	97	409				R -> RDQA (in Ref. 2; BAD93017).|R -> RDQT (in Ref. 4; AAH45542).|R -> RIQI (in Ref. 1; AAC72294).	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			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAACTTACCCCTTCTTTTTTT	0.378000													1	1	1	1	1	1	1.000000	26	51	0	104	1	9.555703e-01	4	9	0	104	5
CCNI2	645121	broad.mit.edu	37	5	132086667	132086667	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132086667C>T	ENST00000378731.1	+	4	803	c.752C>T	c.(751-753)aCg>aTg	p.T251M	SEPT8_ENST00000378719.2_3'UTR|CCNI2_ENST00000468733.1_3'UTR	NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	32	58	0	88	251					regulation of cyclin-dependent protein kinase activity		protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TATATTGGGACGCCGCTGGAC	0.493000													1	1	1	1	1	1	1.000000	33	65	0	101	0	9.204610e-01	1	10	0	101	5
SEPT8	23176	broad.mit.edu	37	5	132099413	132099413	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132099413C>A	ENST00000296873.7	-	4	802	c.519G>T	c.(517-519)aaG>aaT	p.K173N	SEPT8_ENST00000378721.4_Missense_Mutation_p.K171N|SEPT8_ENST00000378719.2_Missense_Mutation_p.K173N|SEPT8_ENST00000378699.2_Missense_Mutation_p.K113N|SEPT8_ENST00000378701.1_Missense_Mutation_p.K171N|SEPT8_ENST00000378706.1_Missense_Mutation_p.K173N|SEPT8_ENST00000458488.2_Missense_Mutation_p.K173N|SEPT8_ENST00000448933.1_Missense_Mutation_p.K113N	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	95	168	0	308	173					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCTAGTTTCTTCATGGTCA	0.537000													1	1	1	1	1	1	1.000000	100	185	0	335	1	9.999999e-01	18	29	0	335	5
SOWAHA	134548	broad.mit.edu	37	5	132150907	132150907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132150907C>T	ENST00000378693.2	+	1	1875	c.1594C>T	c.(1594-1596)Cga>Tga	p.R532*		NM_175873.4	NP_787069.3	Q2M3V2	ANR43_HUMAN	sosondowah ankyrin repeat domain family member A	12	34	0	33	532																	AATCTCTCGTCGACCTACTCC	0.567000													1	1	1	1	1	1	0.999776	13	36	0	38	1	8.218439e-01	4	7	0	38	5
GDF9	2661	broad.mit.edu	37	5	132197937	132197937	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132197937A>C	ENST00000378673.2	-	3	1575	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	GDF9_ENST00000296875.2_Missense_Mutation_p.F237V			O60383	GDF9_HUMAN	growth differentiation factor 9	28	45	0	88	237					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCAAGTAAAATTTATAGAC	0.403000													1	1	1	1	1	1	1.000000	30	47	0	94	0	0	0	0	0	94	5
HSPA4	3308	broad.mit.edu	37	5	132424107	132424107	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132424107G>T	ENST00000304858.2	+	9	1286	c.997G>T	c.(997-999)Gaa>Taa	p.E333*	HSPA4_ENST00000504328.1_3'UTR	NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	11	15	0	30	333					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTAAAGAAAGAAGATATTTA	0.308000													1	1	1	1	1	1	0.999759	12	15	0	30	0	1	1	81	0	30	5
FSTL4	23105	broad.mit.edu	37	5	132553062	132553062	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:132553062G>T	ENST00000265342.7	-	13	1716	c.1467C>A	c.(1465-1467)atC>atA	p.I489I	CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	10	23	0	33	489						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGAGGACAGATTTCTTCCT	0.502000													1	1	1	1	1	1	0.999206	11	24	0	35	0	0	0	0	0	35	5
TCF7	6932	broad.mit.edu	37	5	133481907	133481907	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:133481907A>G	ENST00000321603.6	+	10	1287	c.1091A>G	c.(1090-1092)tAt>tGt	p.Y364C	TCF7_ENST00000378560.4_3'UTR|TCF7_ENST00000432532.2_Intron|TCF7_ENST00000395023.1_Intron|TCF7_ENST00000395029.1_Intron|TCF7_ENST00000342854.5_Intron|TCF7_ENST00000520958.1_Intron			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	81	129	0	229	0					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTCTTCACTATTCCTAGGAG	0.512000											OREG0016787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1	1	1	1	1.000000	87	140	0	254	1	9.996373e-01	20	3	0	254	4
DDX46	9879	broad.mit.edu	37	5	134162645	134162645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:134162645G>T	ENST00000452510.2	+	22	3144	c.2986G>T	c.(2986-2988)Gaa>Taa	p.E996*	DDX46_ENST00000354283.4_Nonsense_Mutation_p.E995*	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	5	17	0	22	995					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGTGCCAATGAACTGGCTGT	0.413000													1	0	1	1	1	1	0.945274	5	18	0	25	1	9.999497e-01	26	104	0	25	4
TGFBI	7045	broad.mit.edu	37	5	135383085	135383085	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:135383085C>T	ENST00000442011.2	+	6	908	c.747C>T	c.(745-747)atC>atT	p.I249I	TGFBI_ENST00000305126.8_Silent_p.I249I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	90	159	0	348	249	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATTGAGATCGAGGACACCT	0.572000													1	1	1	1	1	1	1.000000	97	176	0	403	1	1	190	309	0	403	5
PKD2L2	27039	broad.mit.edu	37	5	137235410	137235410	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137235410C>A	ENST00000508638.1	+	5	785	c.730C>A	c.(730-732)Cta>Ata	p.L244I	PKD2L2_ENST00000502810.1_Missense_Mutation_p.L244I|PKD2L2_ENST00000290431.5_Missense_Mutation_p.L244I|PKD2L2_ENST00000350250.4_Missense_Mutation_p.L210I|PKD2L2_ENST00000508883.1_Missense_Mutation_p.L244I	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	14	10	0	31	244						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAATGTAAATCTATTTTGTAT	0.338000													1	0	1	1	0	1	0.999976	14	10	0	31	0	0	0	0	0	31	3
NME5	8382	broad.mit.edu	37	5	137454535	137454535	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137454535A>C	ENST00000265191.2	-	5	576	c.527T>G	c.(526-528)cTt>cGt	p.L176R		NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	8	16	0	37	176					anti-apoptosis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatid development|UTP biosynthetic process		ATP binding|nucleoside diphosphate kinase activity|protein binding			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGCTTACAAAGCTCTGTGAG	0.398000													1	0	1	1	1	1	0.996692	9	20	0	39	1	9.966916e-01	14	15	0	39	4
BRD8	10902	broad.mit.edu	37	5	137476564	137476564	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137476564C>T	ENST00000254900.5	-	26	3816	c.3445G>A	c.(3445-3447)Gac>Aac	p.D1149N		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	69	152	0	198	1149	Bromo 2.				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			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTAGTTAAGTCCATGGGTCTG	0.428000													1	1	1	1	1	1	1.000000	70	161	0	211	0	0	0	0	0	211	5
BRD8	10902	broad.mit.edu	37	5	137488401	137488401	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137488401C>A	ENST00000254900.5	-	21	2997	c.2626G>T	c.(2626-2628)Gac>Tac	p.D876Y		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	8	109	0	106	876					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	p.D876Y(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AACTCAGAGTCATTGGGATGA	0.458000													1	0	1	1	0	1	0.990167	8	112	0	108	0	0	0	0	0	108	3
KIF20A	10112	broad.mit.edu	37	5	137521258	137521258	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137521258T>C	ENST00000394894.3	+	16	2210	c.1984T>C	c.(1984-1986)Tca>Cca	p.S662P	KIF20A_ENST00000508792.1_Missense_Mutation_p.S644P	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	50	72	0	119	662					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAGACAACAGTCAGTGGCCCA	0.517000													1	1	1	1	1	1	1.000000	53	78	0	127	1	1	38	40	0	127	5
CDC23	8697	broad.mit.edu	37	5	137548851	137548851	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137548851T>C	ENST00000394886.2	-	1	181	c.151A>G	c.(151-153)Agt>Ggt	p.S51G	CDC23_ENST00000505120.1_Missense_Mutation_p.S51G|CDC23_ENST00000394884.3_Missense_Mutation_p.S51G	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	9	193	0	246	51					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|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|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CATTTGCTACTGTGTAGTAGG	0.537000													1	1	1	1	0	1	0.997088	10	202	0	271	1	4.812987e-01	5	27	0	271	4
KDM3B	51780	broad.mit.edu	37	5	137754915	137754915	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:137754915A>G	ENST00000314358.5	+	14	3909	c.3709A>G	c.(3709-3711)Aca>Gca	p.T1237A	KDM3B_ENST00000394866.1_Missense_Mutation_p.T893A|KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000542866.1_Missense_Mutation_p.T269A	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	5	37	0	47	1237					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			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TAAAGAAGAAACAAAAGGTGA	0.478000													0	0	1	0	0	1	0.941401	5	39	0	51	1	9.198482e-01	17	22	0	51	1
HARS	3035	broad.mit.edu	37	5	140057544	140057544	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140057544C>A	ENST00000504366.1	-	5	2191	c.372G>T	c.(370-372)aaG>aaT	p.K124N	HARS_ENST00000431330.2_Missense_Mutation_p.K79N|HARS_ENST00000438307.2_Missense_Mutation_p.K153N|HARS_ENST00000504156.1_Missense_Mutation_p.K193N|HARS_ENST00000448240.1_Missense_Mutation_p.K31N|HARS_ENST00000307633.3_Missense_Mutation_p.K133N|HARS_ENST00000415192.2_Missense_Mutation_p.K119N|HARS_ENST00000457527.2_Missense_Mutation_p.K173N			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	16	30	0	40	193					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CGCACATGATCTTCAGGCACT	0.532000													1	1	1	1	1	1	0.999996	18	31	0	42	1	1	66	85	0	42	5
PCDHA4	0	broad.mit.edu	37	5	140188074	140188074	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140188074G>A	ENST00000530339.1	+	1	1302	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	PCDHA4_ENST00000356878.4_Silent_p.S434S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.S434S|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1				93	144	0	222											breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGCCTTCGCTGTGGGCCA	0.612000													1	1	1	1	1	1	1.000000	96	156	0	232	0	9.959576e-01	0	17	0	232	5
PCDHA7	0	broad.mit.edu	37	5	140215942	140215942	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140215942G>A	ENST00000525929.1	+	1	1974	c.1974G>A	c.(1972-1974)tcG>tcA	p.S658S	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.S658S|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1				33	77	0	114											NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCCCTCGCTGACAGCCA	0.657000													1	1	1	1	1	1	1.000000	35	79	0	125	0	0	1	0	0	125	5
PCDHA9	0	broad.mit.edu	37	5	140229206	140229206	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140229206G>A	ENST00000378122.3	+	1	1850	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	PCDHA9_ENST00000532602.1_Missense_Mutation_p.D376N|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1				41	108	1	101											breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTGTGATCGACCTAGACGC	0.512000													1	0	1	1	1	1	1.000000	41	116	1	104	0	0	1	0	1	104	4
PCDHA9	0	broad.mit.edu	37	5	140229595	140229595	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140229595G>A	ENST00000378122.3	+	1	2239	c.1515G>A	c.(1513-1515)tcG>tcA	p.S505S	PCDHA9_ENST00000532602.1_Silent_p.S505S|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1				55	122	1	215											breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGCTGTCGAGCTACGTGT	0.677000													1	0	1	1	1	1	1.000000	57	127	1	200	0	9.982128e-01	1	1	1	200	4
PCDHA9	0	broad.mit.edu	37	5	140230511	140230511	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140230511T>C	ENST00000378122.3	+	1	3155	c.2431T>C	c.(2431-2433)Ttt>Ctt	p.F811L	PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_014005.3	NP_054724.1				46	64	0	90											breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ttatataattttttttCTTGA	0.353000													1	1	1	1	1	1	1.000000	48	65	0	94	1	9.998954e-01	23	0	0	94	5
PCDHA11	0	broad.mit.edu	37	5	140249078	140249078	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140249078G>A	ENST00000398640.2	+	1	390	c.390G>A	c.(388-390)ccG>ccA	p.P130P	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1				83	129	1	240											breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACCCGCCGGTGTTCT	0.547000													1	0	1	1	1	1	1.000000	86	151	1	246	0	0	1	0	1	246	4
PCDHA13	0	broad.mit.edu	37	5	140262568	140262568	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140262568G>A	ENST00000289272.2	+	1	715	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A239T|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1				25	50	0	94											NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGACAACGCCCCGGAATT	0.458000													1	1	1	1	1	1	1.000000	26	55	0	103	0	0	1	0	0	103	5
PCDHAC1	0	broad.mit.edu	37	5	140308918	140308918	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140308918A>C	ENST00000409700.3	+	1	2617	c.2441A>C	c.(2440-2442)aAa>aCa	p.K814T	PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031882.2	NP_114088.2				41	89	0	128											NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGTAAGCAAATTTTATGGA	0.403000													1	0	1	1	1	1	1.000000	45	95	0	139	1	9.994003e-01	24	4	0	139	4
PCDHB1	0	broad.mit.edu	37	5	140433447	140433447	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140433447A>G	ENST00000306549.3	+	1	2469	c.2392A>G	c.(2392-2394)Aat>Gat	p.N798D		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		29	57	0	78	798					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGCCCCCAAATTCTGATAG	0.448000													1	1	1	1	1	1	1.000000	29	65	0	88	0	0	0	0	0	88	5
PCDHB2	0	broad.mit.edu	37	5	140475653	140475653	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140475653G>A	ENST00000194155.4	+	1	1427	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		72	150	0	231	427	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCGTCACCGACTTCGGGAC	0.537000													1	1	1	1	1	1	1.000000	78	157	0	229	1	9.999910e-01	31	8	0	229	5
PCDHB3	0	broad.mit.edu	37	5	140480258	140480258	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140480258C>A	ENST00000231130.2	+	1	25	c.25C>A	c.(25-27)Ctt>Att	p.L9I	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		23	44	0	64	9					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGCGATTTCTTAGACAAAG	0.522000													1	1	1	1	1	1	1.000000	26	45	0	71	0	0	0	1	0	71	5
PCDHB5	0	broad.mit.edu	37	5	140515755	140515755	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140515755T>C	ENST00000231134.5	+	1	956	c.739T>C	c.(739-741)Tat>Cat	p.Y247H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		25	275	0	318	247	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATCATTCTATGAGGTACA	0.522000													1	1	1	1	0	1	1.000000	28	311	0	363	0	7.459999e-03	0	2	0	363	4
PCDHB10	0	broad.mit.edu	37	5	140572226	140572226	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140572226C>T	ENST00000239446.4	+	1	285	c.101C>T	c.(100-102)tCg>tTg	p.S34L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		37	73	0	153	34					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACGTTATTCGGTGACTGAG	0.507000													1	1	1	1	0	1	1.000000	43	78	0	134	0	0	1	0	0	134	4
PCDHB14	0	broad.mit.edu	37	5	140603677	140603677	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140603677A>C	ENST00000239449.4	+	1	600	c.600A>C	c.(598-600)ttA>ttC	p.L200F	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L47F	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		36	53	0	91	200	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAGAGCTTTAGATTATGAAC	0.443000													1	1	1	1	1	1	1.000000	36	58	0	98	0	6.324874e-01	1	4	0	98	5
PCDHB15	0	broad.mit.edu	37	5	140627280	140627280	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140627280C>T	ENST00000231173.3	+	1	2134	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		83	168	1	283	712					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTGGCAGTGCGGCTGTGCAG	0.672000													1	0	1	1	1	1	1.000000	88	179	2	302	0	5.330103e-01	0	5	2	302	4
PCDHGA2	0	broad.mit.edu	37	5	140718783	140718783	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140718783G>A	ENST00000394576.2	+	1	245	c.245G>A	c.(244-246)gGc>gAc	p.G82D	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1				47	99	0	151											breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGAAGCGGCAGCTTGGTC	0.572000													1	1	1	1	1	1	1.000000	52	107	0	171	0	1.097308e-01	1	1	0	171	5
PCDHGA2	0	broad.mit.edu	37	5	140720038	140720038	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140720038C>T	ENST00000394576.2	+	1	1500	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1				41	95	0	103											breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGGGCACCCTTATCCTCTT	0.517000													1	1	1	1	1	1	1.000000	42	99	0	105	0	0	0	0	0	105	5
PCDHGB1	0	broad.mit.edu	37	5	140730012	140730012	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140730012G>A	ENST00000523390.1	+	1	185	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1				21	30	0	58											central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCCAACTCGAAAACTGCGG	0.522000											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	23	32	0	61	0	1.753361e-01	1	1	0	61	5
PCDHGB3	0	broad.mit.edu	37	5	140750455	140750455	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140750455A>C	ENST00000576222.1	+	1	625	c.494A>C	c.(493-495)aAt>aCt	p.N165T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1				81	166	1	279											endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGTGTCAATTCGCTGCAG	0.498000													1	1	1	1	1	1	1.000000	88	189	1	314	0	0	1	0	1	314	5
PCDHGB3	0	broad.mit.edu	37	5	140752101	140752101	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140752101C>T	ENST00000576222.1	+	1	2271	c.2140C>T	c.(2140-2142)Cgc>Tgc	p.R714C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1				20	32	0	82											endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCTCCCTGCGCCTGCGATG	0.582000													1	1	1	1	1	1	1.000000	21	33	0	83	0	0	0	1	0	83	5
PCDHGA6	0	broad.mit.edu	37	5	140754335	140754335	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140754335C>A	ENST00000517434.1	+	1	685	c.685C>A	c.(685-687)Ctg>Atg	p.L229M	PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1				14	21	0	30											breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCAAATTCTGGTAACAGT	0.542000													1	1	1	1	1	1	0.999986	16	24	0	30	0	1.694352e-01	0	2	0	30	5
PCDHGA8	0	broad.mit.edu	37	5	140773529	140773529	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140773529C>A	ENST00000398604.2	+	1	1149	c.1149C>A	c.(1147-1149)gtC>gtA	p.V383V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_032088.1	NP_114477.1				16	26	0	49											endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAAGTTGTCTGTTACACAC	0.363000													1	1	1	1	0	1	0.999985	16	26	0	49	0	7.286378e-01	0	6	0	49	4
PCDHGA9	0	broad.mit.edu	37	5	140784372	140784372	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140784372C>T	ENST00000573521.1	+	1	1853	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1				38	49	0	79											endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTCTTCTCGGTGGGGCTG	0.602000													1	1	1	1	1	1	1.000000	39	52	0	82	0	8.683308e-01	0	7	0	82	5
PCDHGA12	0	broad.mit.edu	37	5	140811516	140811516	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140811516C>A	ENST00000252085.3	+	1	1332	c.1190C>A	c.(1189-1191)tCt>tAt	p.S397Y	PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1				22	39	0	58											breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGAAAAATCTTACGGAAAT	0.413000													1	1	1	1	1	1	1.000000	23	42	0	59	0	9.998453e-01	0	32	0	59	5
PCDHGC3	0	broad.mit.edu	37	5	140858062	140858062	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140858062T>C	ENST00000308177.3	+	1	2483	c.2379T>C	c.(2377-2379)gaT>gaC	p.D793D	PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1				9	15	0	29											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCTGTGATCCGGTGTTCT	0.582000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.998664	10	16	0	29	1	9.999242e-01	32	9	0	29	5
DIAPH1	1729	broad.mit.edu	37	5	140951545	140951545	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:140951545C>T	ENST00000253811.6	-	17	2561	c.2421G>A	c.(2419-2421)gaG>gaA	p.E807E	DIAPH1_ENST00000520569.1_Silent_p.E753E|DIAPH1_ENST00000518047.1_Silent_p.E798E|DIAPH1_ENST00000389057.5_Silent_p.E798E|DIAPH1_ENST00000398566.3_Silent_p.E798E|DIAPH1_ENST00000389054.3_Silent_p.E807E|DIAPH1_ENST00000398557.4_Silent_p.E807E|DIAPH1_ENST00000398562.2_Silent_p.E786E			O60610	DIAP1_HUMAN	diaphanous-related formin 1	32	58	0	87	807	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCATTGTTCTCAAAGCGGT	0.478000													1	1	1	1	1	1	1.000000	37	63	0	94	1	1	56	53	0	94	5
ARAP3	64411	broad.mit.edu	37	5	141035789	141035789	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141035789T>C	ENST00000239440.4	-	28	3909	c.3844A>G	c.(3844-3846)Atc>Gtc	p.I1282V	ARAP3_ENST00000513878.1_Missense_Mutation_p.I944V|ARAP3_ENST00000508305.1_Missense_Mutation_p.I1113V|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	52	80	0	153	1282	PH 3.				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			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTCTTGCGGATTCCCAGGTAG	0.557000													1	1	1	1	1	1	1.000000	57	91	0	174	1	9.999849e-01	9	23	0	174	5
PCDH12	51294	broad.mit.edu	37	5	141325152	141325152	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141325152G>T	ENST00000231484.3	-	4	4559	c.3349C>A	c.(3349-3351)Ctg>Atg	p.L1117M		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	29	38	0	74	1117					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCATCTCCAGCAGTGAGCTC	0.647000													1	1	1	1	1	1	1.000000	32	42	0	76	0	8.062135e-01	0	6	0	76	5
PCDH12	51294	broad.mit.edu	37	5	141335924	141335924	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141335924C>T	ENST00000231484.3	-	1	2703	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	21	41	0	75	498	Cadherin 5.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTGGATGCGGTATGAGAC	0.483000													1	1	1	1	1	1	1.000000	22	42	0	77	0	8.607497e-01	0	9	0	77	5
NDFIP1	80762	broad.mit.edu	37	5	141524180	141524180	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:141524180C>T	ENST00000253814.4	+	7	1077	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W		NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	37	71	0	131	203					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAAAGTTCGGAAGATGCC	0.323000													1	0	1	1	1	1	1.000000	46	83	0	156	1	1	92	130	0	156	4
ARHGAP26	23092	broad.mit.edu	37	5	142150427	142150427	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:142150427A>C	ENST00000378004.3	+	1	456	c.101A>C	c.(100-102)aAa>aCa	p.K34T	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.K34T	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	30	50	0	82	34					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			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGACCAACAAATTCATCAAG	0.607000													1	1	1	1	1	1	1.000000	31	53	0	91	1	6.081292e-01	3	2	0	91	5
SH3RF2	153769	broad.mit.edu	37	5	145393376	145393376	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:145393376C>A	ENST00000511217.1	+	4	863	c.811C>A	c.(811-813)Ctg>Atg	p.L271M	SH3RF2_ENST00000359120.4_Missense_Mutation_p.L271M			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	27	70	0	93	271							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACAAAAAACCTGTCCCTGGT	0.537000													1	1	1	1	1	1	1.000000	28	73	0	106	1	6.966382e-01	2	6	0	106	5
PPP2R2B	5521	broad.mit.edu	37	5	146077608	146077608	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:146077608C>A	ENST00000394413.3	-	3	838	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	PPP2R2B_ENST00000394409.3_Nonsense_Mutation_p.E148*|PPP2R2B_ENST00000356826.3_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000504198.1_Nonsense_Mutation_p.E96*|PPP2R2B_ENST00000453001.1_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000508545.2_Nonsense_Mutation_p.E79*|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Nonsense_Mutation_p.E156*|PPP2R2B_ENST00000394410.2_Nonsense_Mutation_p.E79*|PPP2R2B_ENST00000394411.4_Nonsense_Mutation_p.E90*|PPP2R2B_ENST00000336640.6_Nonsense_Mutation_p.E93*			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	19	41	0	96	90					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGATTTTTTCTTCTATTTCT	0.388000													1	1	1	1	1	1	0.999999	20	41	0	100	0	1.145833e-01	0	2	0	100	5
STK32A	202374	broad.mit.edu	37	5	146722600	146722600	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:146722600G>A	ENST00000397936.3	+	6	799	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	STK32A_ENST00000398523.3_Missense_Mutation_p.E156K|STK32A_ENST00000541094.1_Missense_Mutation_p.E156K|STK32A_ENST00000398521.3_Missense_Mutation_p.E156K	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	27	57	0	81	156	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTACTTGACGAACATGGTAA	0.373000													1	1	1	1	1	1	1.000000	32	66	0	99	0	0	0	0	0	99	5
JAKMIP2	9832	broad.mit.edu	37	5	147030017	147030017	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147030017T>C	ENST00000265272.5	-	4	1188	c.721A>G	c.(721-723)Aag>Gag	p.K241E	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.K241E|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.K199E	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	12	49	0	58	241						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGCCTCCTTCTGAAGTTGG	0.478000													1	1	1	1	1	1	0.999408	12	57	0	66	0	0	1	0	0	66	5
SPINK5	11005	broad.mit.edu	37	5	147491427	147491427	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147491427G>T	ENST00000359874.3	+	19	1862	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C	SPINK5_ENST00000398454.1_Missense_Mutation_p.G597C|SPINK5_ENST00000256084.7_Missense_Mutation_p.G597C	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	29	44	0	84	597	Kazal-like 9.				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	p.G597C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAATCCACGGCAACACCTG	0.537000													1	1	1	1	1	1	1.000000	31	49	0	87	1	3.398682e-01	2	1	0	87	5
HTR4	3360	broad.mit.edu	37	5	147830815	147830815	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147830815C>T	ENST00000354217.2	-	7	1260	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521530.1_Missense_Mutation_p.G366E			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	54	89	0	152	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CTGATGATGTCCCCTGTGCAG	0.478000													1	1	1	1	1	1	1.000000	60	96	0	173	0	0	0	0	0	173	5
HTR4	3360	broad.mit.edu	37	5	147863828	147863828	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147863828G>T	ENST00000360693.3	-	7	1329	c.1191C>A	c.(1189-1191)gtC>gtA	p.V397V	HTR4_ENST00000517929.1_Intron|HTR4_ENST00000521735.1_Intron|HTR4_ENST00000314512.6_Intron|HTR4_ENST00000377888.3_Intron|HTR4_ENST00000521530.1_Intron|HTR4_ENST00000362016.2_Intron|HTR4_ENST00000354217.2_Intron|HTR4_ENST00000520514.1_Intron	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	10	14	0	19	359					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	gttaccccaagacaggcttcc	0.408000													1	1	1	1	1	1	0.999775	12	14	0	20	0	0	0	0	0	20	5
HTR4	3360	broad.mit.edu	37	5	147929810	147929810	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:147929810G>A	ENST00000360693.3	-	3	180	c.42C>T	c.(40-42)ttC>ttT	p.F14F	HTR4_ENST00000517929.1_Silent_p.F14F|HTR4_ENST00000519495.1_5'UTR|HTR4_ENST00000521735.1_Silent_p.F14F|HTR4_ENST00000314512.6_Silent_p.F14F|HTR4_ENST00000377888.3_Silent_p.F14F|HTR4_ENST00000521530.1_Silent_p.F14F|HTR4_ENST00000362016.2_Silent_p.F14F|HTR4_ENST00000354217.2_Silent_p.F14F|HTR4_ENST00000520514.1_Silent_p.F14F	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	23	54	0	103	14					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CCACTGACCCGAAACCCTCCT	0.493000													1	0	1	1	1	1	0.999986	24	62	1	117	0	0	0	0	1	117	4
GRPEL2	134266	broad.mit.edu	37	5	148730559	148730559	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:148730559C>T	ENST00000329271.3	+	4	502	c.392C>T	c.(391-393)tCg>tTg	p.S131L	GRPEL2_ENST00000416916.2_Missense_Mutation_p.R104W|RP11-394O4.4_ENST00000521295.1_RNA|GRPEL2_ENST00000507562.1_3'UTR	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	46	87	0	116	131					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGAAGAATCGGAGCCTGAG	0.473000													1	1	1	1	1	1	1.000000	48	91	0	127	1	9.302659e-01	4	7	0	127	5
PDE6A	5145	broad.mit.edu	37	5	149264383	149264383	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149264383C>A	ENST00000255266.5	-	15	2005	c.1886G>T	c.(1885-1887)aGa>aTa	p.R629I		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	19	35	0	65	629					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			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAAGTGGTGTCTTTCCAAGAT	0.502000													1	1	1	1	1	1	1.000000	21	39	0	74	0	0	0	0	0	74	5
SLC26A2	1836	broad.mit.edu	37	5	149360083	149360083	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149360083T>G	ENST00000286298.4	+	3	1195	c.927T>G	c.(925-927)ctT>ctG	p.L309L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	11	43	0	57	309						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCACCAGCCTTTTGTGCCTTT	0.428000													1	1	1	1	1	1	0.998915	11	44	0	58	0	1.191670e-01	0	3	0	58	5
CSF1R	1436	broad.mit.edu	37	5	149435833	149435833	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149435833G>A	ENST00000286301.3	-	18	2682	c.2391C>T	c.(2389-2391)ttC>ttT	p.F797F		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	35	81	0	105	797	Protein kinase.				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			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TAGCCAGCCCGAAGTCCCCAA	0.572000													1	1	1	1	1	1	1.000000	41	92	0	116	0	9.995843e-01	1	29	0	116	5
RPS14	6208	broad.mit.edu	37	5	149826514	149826514	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:149826514G>A	ENST00000401695.3	-	3	208	c.162C>T	c.(160-162)tgC>tgT	p.C54C	RPS14_ENST00000312037.5_Silent_p.C54C|RPS14_ENST00000407193.1_Silent_p.C54C			P62263	RS14_HUMAN	ribosomal protein S14	23	56	0	99	54					endocrine pancreas development|erythrocyte differentiation|maturation of SSU-rRNA|negative regulation of transcription from RNA polymerase II promoter|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA 5'-UTR binding|protein binding|structural constituent of ribosome|translation regulator activity			central_nervous_system(1)|lung(1)|skin(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTCACACGGCAGATGGTTT	0.522000													1	0	1	1	1	1	1.000000	26	62	0	112	1	1	2212	2837	0	112	4
SYNPO	11346	broad.mit.edu	37	5	150028210	150028210	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150028210T>C	ENST00000394243.1	+	3	1479	c.1105T>C	c.(1105-1107)Tct>Cct	p.S369P	SYNPO_ENST00000307662.4_Missense_Mutation_p.S125P|SYNPO_ENST00000519664.1_Missense_Mutation_p.S125P|SYNPO_ENST00000518872.1_3'UTR|SYNPO_ENST00000522122.1_Missense_Mutation_p.S369P	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	29	190	0	207	369					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			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAACTCCCATCTAATGGCAC	0.572000													1	1	1	1	1	1	1.000000	32	196	0	214	1	7.130382e-01	2	15	0	214	5
DCTN4	51164	broad.mit.edu	37	5	150099289	150099289	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150099289G>A	ENST00000447998.2	-	10	1067	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	DCTN4_ENST00000424236.1_Missense_Mutation_p.R261C|DCTN4_ENST00000446090.2_Missense_Mutation_p.R325C	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	12	19	0	29	318						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCATGTAGCGAAGGTTGGGA	0.348000													1	1	1	1	1	1	0.999625	12	25	0	33	1	9.993515e-01	16	18	0	33	5
ZNF300	91975	broad.mit.edu	37	5	150278113	150278113	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150278113A>G	ENST00000427179.1	-	4	245	c.19T>C	c.(19-21)Tta>Cta	p.L7L	ZNF300_ENST00000274599.5_Silent_p.L7L|ZNF300_ENST00000446148.2_Silent_p.L23L|ZNF300_ENST00000394226.2_Silent_p.L7L|ZNF300_ENST00000418587.2_5'UTR			Q96RE9	ZN300_HUMAN	zinc finger protein 300	17	91	0	101	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATGATACTAACCCCTGTAAT	0.418000													1	1	1	1	1	1	0.999978	17	98	0	109	0	2.477184e-02	0	2	0	109	5
SLC36A2	153201	broad.mit.edu	37	5	150696383	150696383	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150696383G>A	ENST00000335244.4	-	10	1576	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	SLC36A2_ENST00000450886.1_Missense_Mutation_p.R207W	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	21	57	0	105	483					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGCTCACCGAACAAAAGTG	0.483000													1	1	1	1	1	1	1.000000	27	64	0	131	0	0	0	0	0	131	5
SLC36A1	206358	broad.mit.edu	37	5	150858923	150858923	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:150858923T>G	ENST00000243389.3	+	10	1255	c.1032T>G	c.(1030-1032)ttT>ttG	p.F344L	SLC36A1_ENST00000521925.1_Missense_Mutation_p.F344L|SLC36A1_ENST00000520701.1_Missense_Mutation_p.F344L	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	23	58	0	106	344					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		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)	TCGGGATCTTTTTCACCTACG	0.522000													1	1	1	1	1	1	1.000000	24	63	0	111	1	6.203005e-01	4	3	0	111	5
SPARC	6678	broad.mit.edu	37	5	151052738	151052738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:151052738C>A	ENST00000231061.4	-	4	473	c.160G>T	c.(160-162)Gaa>Taa	p.E54*		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	15	96	0	107	54	Asp/Glu-rich (acidic; binds calcium).				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	TCATCAAATTCTCCTACTTCC	0.537000													1	1	1	1	1	1	0.999907	15	109	0	116	0	1	0	459	0	116	5
GLRA1	2741	broad.mit.edu	37	5	151202492	151202492	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:151202492G>T	ENST00000274576.4	-	9	1384	c.1092C>A	c.(1090-1092)ttC>ttA	p.F364L	GLRA1_ENST00000455880.2_Missense_Mutation_p.F372L|GLRA1_ENST00000545569.1_Missense_Mutation_p.F281L	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	18	40	0	67	372					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			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		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)	CATAGGCAGAGAAGTTAAAGC	0.547000													1	1	1	1	1	1	0.999999	20	40	0	71	0	0	0	0	0	71	5
LARP1	23367	broad.mit.edu	37	5	154179268	154179268	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154179268C>T	ENST00000336314.4	+	9	1288	c.1264C>T	c.(1264-1266)Ctt>Ttt	p.L422F		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	35	88	0	171	499	HTH La-type RNA-binding.						protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTCTCCCAGCTTCTCAACTG	0.507000													1	1	1	1	1	1	1.000000	35	99	0	194	1	9.999844e-01	23	31	0	194	5
LARP1	23367	broad.mit.edu	37	5	154183841	154183841	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154183841G>T	ENST00000336314.4	+	14	2313	c.2289G>T	c.(2287-2289)gaG>gaT	p.E763D		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	38	75	0	129	840							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATTCCCGTGAGCACAGGCCCC	0.567000													1	1	1	1	1	1	1.000000	39	80	0	149	1	1	33	42	0	149	5
FAXDC2	10826	broad.mit.edu	37	5	154203091	154203091	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154203091G>T	ENST00000326080.5	-	6	851	c.428C>A	c.(427-429)tCt>tAt	p.S143Y	FAXDC2_ENST00000517938.1_Missense_Mutation_p.S120Y	NM_032385.3	NP_115761.2			fatty acid hydroxylase domain containing 2	28	64	0	96																		CATGGGGAAAGATATCATGCA	0.557000													1	1	1	1	1	1	1.000000	30	67	0	106	1	6.019668e-01	2	4	0	106	5
KIF4B	285643	broad.mit.edu	37	5	154394020	154394020	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154394020G>A	ENST00000435029.4	+	1	761	c.601G>A	c.(601-603)Gcc>Acc	p.A201T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	11	100	0	128	201	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGGACTGTGGCCTCCACAGC	0.458000													1	1	1	1	0	1	0.998604	11	105	0	131	0	0	0	0	0	131	4
FAM71B	153745	broad.mit.edu	37	5	156593022	156593022	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156593022T>G	ENST00000302938.4	-	1	253	c.158A>C	c.(157-159)cAg>cCg	p.Q53P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	7	78	0	91	53						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	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)			TTTGTTTATCTGAATAAAATT	0.478000													1	0	1	1	0	1	0.990455	8	83	0	96	0	0	0	0	0	96	3
ITK	3702	broad.mit.edu	37	5	156635937	156635937	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156635937G>A	ENST00000422843.3	+	2	328	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	7	18	0	39	59	PH.				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	p.R59Q(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	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)			GAGCTCTCCCGAATCAAATGT	0.458000			T	SYK	peripheral T-cell lymphoma								1	1	1	1	1	1	0.985528	7	21	0	46	0	0	0	0	0	46	5
CYFIP2	26999	broad.mit.edu	37	5	156757772	156757772	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156757772C>T	ENST00000347377.6	+	20	2610	c.2179C>T	c.(2179-2181)Cga>Tga	p.R727*	CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.R531*|CYFIP2_ENST00000521420.1_Nonsense_Mutation_p.R701*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.R752*|CYFIP2_ENST00000442283.2_Nonsense_Mutation_p.R12*|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.R426*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.R727*|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.R652*	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	10	27	0	49	752					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	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)			TAAACGTTTTCGAGCTGAGTG	0.448000													1	0	1	1	0	1	0.998074	10	31	0	57	0	5.553828e-01	0	7	0	57	3
CYFIP2	26999	broad.mit.edu	37	5	156816422	156816422	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:156816422G>A	ENST00000347377.6	+	29	3864	c.3433G>A	c.(3433-3435)Gag>Aag	p.E1145K	CYFIP2_ENST00000522463.1_Missense_Mutation_p.E949K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E844K|CYFIP2_ENST00000521420.1_Missense_Mutation_p.E1119K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E1170K|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E1145K|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E1070K	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	15	21	0	20	1170					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	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)			GGGAACCAACGAGTTCACAGC	0.597000													1	1	1	1	1	1	0.999995	17	22	0	21	0	9.991541e-01	1	20	0	21	5
SOX30	11063	broad.mit.edu	37	5	157053528	157053528	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:157053528A>G	ENST00000265007.6	-	5	2423	c.2082T>C	c.(2080-2082)acT>acC	p.T694T	SOX30_ENST00000311371.5_3'UTR|SOX30_ENST00000519442.1_Silent_p.T389T	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	11	25	0	29	694					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	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)			TATAGTAAGAAGTTCCATTCA	0.408000													1	1	1	1	1	1	0.999147	11	27	0	31	1	7.198629e-01	2	6	0	31	5
LSM11	134353	broad.mit.edu	37	5	157178487	157178487	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:157178487C>T	ENST00000286307.5	+	2	594	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	24	57	0	86	180	SM 1.				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	p.R180W(1)		breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAGGGACTTCGGGGCGTCTG	0.498000													1	1	1	1	1	1	1.000000	27	63	0	95	1	5.833186e-01	2	4	0	95	5
CLINT1	9685	broad.mit.edu	37	5	157218887	157218887	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:157218887C>A	ENST00000523094.1	-	10	1355	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*	CLINT1_ENST00000530742.1_Nonsense_Mutation_p.E384*|CLINT1_ENST00000411809.2_Nonsense_Mutation_p.E402*|CLINT1_ENST00000296951.5_Nonsense_Mutation_p.E384*|CLINT1_ENST00000523908.1_Nonsense_Mutation_p.E402*	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	28	49	1	61	402					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	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)			CTAACAAGTTCTACCGCTGGC	0.542000													1	0	1	1	1	1	0.999991	28	52	1	62	0	9.999777e-01	4	57	1	62	4
RNF145	153830	broad.mit.edu	37	5	158603743	158603743	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:158603743T>G	ENST00000424310.2	-	5	877	c.518A>C	c.(517-519)aAa>aCa	p.K173T	RNF145_ENST00000521606.2_Missense_Mutation_p.K190T|RNF145_ENST00000520638.1_Missense_Mutation_p.K187T|RNF145_ENST00000518802.1_Missense_Mutation_p.K203T|RNF145_ENST00000519865.1_Missense_Mutation_p.K173T|RNF145_ENST00000274542.2_Missense_Mutation_p.K201T	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	16	23	0	38	173						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATAGCAAATTTATTGATGAT	0.373000													1	1	1	1	1	1	0.999994	17	25	0	40	1	9.999842e-01	17	21	0	40	5
RNF145	153830	broad.mit.edu	37	5	158630446	158630446	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:158630446A>G	ENST00000424310.2	-	2	539	c.180T>C	c.(178-180)taT>taC	p.Y60Y	RNF145_ENST00000521606.2_Silent_p.Y77Y|RNF145_ENST00000520638.1_Silent_p.Y74Y|RNF145_ENST00000518802.1_Silent_p.Y90Y|RNF145_ENST00000519865.1_Silent_p.Y60Y|RNF145_ENST00000274542.2_Silent_p.Y88Y	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	10	54	0	59	60						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCACCTACATAATGCATAT	0.343000													1	0	0	1	1	1	0.998786	11	60	0	62	1	9.936602e-01	6	45	0	62	3
ADRA1B	147	broad.mit.edu	37	5	159398918	159398918	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:159398918G>A	ENST00000306675.3	+	2	1105	c.982G>A	c.(982-984)Gcc>Acc	p.A328T		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	20	62	0	81	328					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			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	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)	GCCCCCCGACGCCGTGTTCAA	0.602000													1	1	1	1	1	1	1.000000	22	65	0	91	0	0	0	0	0	91	5
SLU7	10569	broad.mit.edu	37	5	159835009	159835009	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:159835009G>A	ENST00000297151.4	-	9	1273	c.886C>T	c.(886-888)Cct>Tct	p.P296S		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	29	52	0	84	296					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			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	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)			TTGGCATAAGGATTCTCTCTC	0.308000													1	1	1	1	1	1	1.000000	33	58	0	93	1	1	27	36	0	93	5
GABRB2	0	broad.mit.edu	37	5	160721219	160721219	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:160721219G>A	ENST00000274547.2	-	11	1625	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	GABRB2_ENST00000517901.1_Missense_Mutation_p.R369C|GABRB2_ENST00000393959.1_Missense_Mutation_p.R470C|GABRB2_ENST00000520240.1_Missense_Mutation_p.R432C|GABRB2_ENST00000353437.6_Missense_Mutation_p.R432C|GABRB2_ENST00000517547.1_Missense_Mutation_p.R272C	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	27	52	0	71	470					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	p.R432C(2)|p.R470C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	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)	TGGGAGGCGCGTCTCCTCAGG	0.507000													1	1	1	1	1	1	1.000000	29	54	0	71	0	0	0	0	0	71	5
GABRB2	0	broad.mit.edu	37	5	160753387	160753387	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:160753387G>T	ENST00000274547.2	-	10	1396	c.1179C>A	c.(1177-1179)ttC>ttA	p.F393L	GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.F393L|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000517547.1_Intron	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	7	31	0	57	393					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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	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)	TATACAGAGAGAAATCGTaat	0.373000													1	0	1	1	1	1	0.991943	8	32	0	62	0	0	0	0	0	62	4
GABRB2	0	broad.mit.edu	37	5	160761811	160761811	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:160761811G>A	ENST00000274547.2	-	8	997	c.780C>T	c.(778-780)tcC>tcT	p.S260S	GABRB2_ENST00000517901.1_Silent_p.S197S|GABRB2_ENST00000393959.1_Silent_p.S260S|GABRB2_ENST00000520240.1_Silent_p.S260S|GABRB2_ENST00000353437.6_Silent_p.S260S|GABRB2_ENST00000517547.1_Silent_p.S100S	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	18	39	0	76	260					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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	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)	AGGAGACCCAGGAGAGGATGG	0.433000													1	1	1	1	1	1	0.999997	19	44	0	85	0	0	0	0	0	85	5
GABRG2	0	broad.mit.edu	37	5	161495013	161495013	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:161495013C>T	ENST00000356592.3	+	1	468	c.8C>T	c.(7-9)tCg>tTg	p.S3L	GABRG2_ENST00000414552.2_Missense_Mutation_p.S3L|GABRG2_ENST00000361925.4_Missense_Mutation_p.S3L	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	16	35	0	51	3					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			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	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)		GCGATGAGTTCGCCAAATATA	0.453000													1	1	1	1	1	1	0.999990	17	36	0	54	0	0	0	0	0	54	5
NUDCD2	134492	broad.mit.edu	37	5	162883965	162883965	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162883965T>C	ENST00000302764.4	-	3	449	c.360A>G	c.(358-360)agA>agG	p.R120R	NUDCD2_ENST00000517501.1_Silent_p.R95R	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2	14	50	0	63	120						intracellular				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		ATGTAAGCTTTCTCTGCATTT	0.323000													1	1	1	1	1	1	0.999931	15	59	0	80	1	9.999999e-01	42	115	0	80	5
HMMR	3161	broad.mit.edu	37	5	162900240	162900240	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162900240G>T	ENST00000416990.2	+	8	858	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	HMMR_ENST00000432118.2_Nonsense_Mutation_p.E149*|HMMR_ENST00000353866.3_Nonsense_Mutation_p.E220*|HMMR_ENST00000393915.4_Nonsense_Mutation_p.E236*|HMMR_ENST00000358715.3_Nonsense_Mutation_p.E235*			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	6	15	0	19	235						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	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)		AAAACTCTTGGAATACATCGA	0.264000													1	0	1	1	1	1	0.972704	6	16	0	21	0	5.430592e-01	1	5	0	21	4
HMMR	3161	broad.mit.edu	37	5	162902573	162902573	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162902573A>C	ENST00000416990.2	+	11	1315	c.818A>C	c.(817-819)aAa>aCa	p.K273T	HMMR_ENST00000432118.2_Missense_Mutation_p.K301T|HMMR_ENST00000353866.3_Missense_Mutation_p.K372T|HMMR_ENST00000393915.4_Missense_Mutation_p.K388T|HMMR_ENST00000358715.3_Missense_Mutation_p.K387T			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	14	47	0	60	387						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	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)		GAGCTTGATAAATTACAGCAA	0.383000													1	1	1	1	1	1	0.999971	16	50	0	63	1	9.152741e-01	12	4	0	63	5
MAT2B	27430	broad.mit.edu	37	5	162945299	162945299	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:162945299G>A	ENST00000280969.5	+	7	1183	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	MAT2B_ENST00000518731.1_3'UTR|MAT2B_ENST00000521838.1_3'UTR|MAT2B_ENST00000518095.1_3'UTR|MAT2B_ENST00000321757.6_Missense_Mutation_p.R312Q	NM_182796.1	NP_877725.1	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	13	21	0	45	312					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	p.R301Q(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	ACACCATTTCGAATTGGAATC	0.423000													1	1	1	1	1	1	0.999849	13	22	0	48	1	1	34	65	0	48	5
TENM2	57451	broad.mit.edu	37	5	167630748	167630748	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:167630748G>T	ENST00000519204.1	+	17	3240	c.3122G>T	c.(3121-3123)aGg>aTg	p.R1041M	TENM2_ENST00000518659.1_Missense_Mutation_p.R1162M|TENM2_ENST00000520394.1_Missense_Mutation_p.R930M|TENM2_ENST00000545108.1_Missense_Mutation_p.R1162M|TENM2_ENST00000403607.2_Missense_Mutation_p.R986M					teneurin transmembrane protein 2	33	63	0	93																		TGGGAGAAAAGGACAGCCCTC	0.498000													1	1	1	1	1	1	1.000000	33	63	0	99	0	0	0	0	0	99	5
TENM2	57451	broad.mit.edu	37	5	167689283	167689283	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:167689283C>A	ENST00000519204.1	+	28	7548	c.7430C>A	c.(7429-7431)tCt>tAt	p.S2477Y	TENM2_ENST00000518659.1_Missense_Mutation_p.S2598Y|TENM2_ENST00000520394.1_Missense_Mutation_p.S2359Y|TENM2_ENST00000545108.1_Missense_Mutation_p.S2597Y|TENM2_ENST00000403607.2_Missense_Mutation_p.S2422Y					teneurin transmembrane protein 2	9	15	0	19																		AAGGTGGCATCTGTGCTGAAC	0.562000													1	1	1	1	1	1	0.996951	9	17	0	20	0	0	0	0	0	20	5
TENM2	57451	broad.mit.edu	37	5	167689785	167689785	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:167689785T>G	ENST00000519204.1	+	28	8050	c.7932T>G	c.(7930-7932)ttT>ttG	p.F2644L	TENM2_ENST00000518659.1_Missense_Mutation_p.F2765L|TENM2_ENST00000520394.1_Missense_Mutation_p.F2526L|TENM2_ENST00000545108.1_Missense_Mutation_p.F2764L|TENM2_ENST00000403607.2_Missense_Mutation_p.F2589L					teneurin transmembrane protein 2	9	14	0	24																		ACATCCAGTTTTTAAGACAGA	0.488000													1	0	1	1	1	1	0.999439	11	15	0	27	0	0	0	1	0	27	4
FBXW11	23291	broad.mit.edu	37	5	171326969	171326969	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:171326969C>T	ENST00000296933.6	-	4	840	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	FBXW11_ENST00000425623.2_Missense_Mutation_p.R138Q|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.R136Q|FBXW11_ENST00000265094.5_Missense_Mutation_p.R170Q	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	73	108	0	166	170	F-box.				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.R170Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	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)			GCGTACCATTCGTTCAATCAG	0.448000													1	1	1	1	1	1	1.000000	79	116	0	182	1	9.999628e-01	14	12	0	182	5
HIGD2A	192286	broad.mit.edu	37	5	175815966	175815966	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:175815966T>C	ENST00000274787.2	+	1	219	c.146T>C	c.(145-147)gTa>gCa	p.V49A	NOP16_ENST00000389158.5_5'UTR	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	26	58	0	128	49	HIG1.					integral to membrane				large_intestine(1)	1	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)		AACCCGGTGGTACCCATAGGT	0.562000													1	1	1	1	1	1	1.000000	27	66	0	146	1	1	184	187	0	146	5
CLTB	1212	broad.mit.edu	37	5	175824668	175824668	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:175824668T>C	ENST00000310418.4	-	4	609	c.404A>G	c.(403-405)gAc>gGc	p.D135G	CLTB_ENST00000345807.2_Missense_Mutation_p.D135G	NM_007097.3	NP_009028.1	P09497	CLCB_HUMAN	clathrin, light chain B	6	78	0	87	135	Involved in binding clathrin heavy chain.				intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	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)		CTCCTCCAGGTCCTTCTTGGC	0.552000													1	1	1	1	0	1	0.982037	7	82	0	90	1	9.999675e-01	31	289	0	90	4
FAF2	23197	broad.mit.edu	37	5	175921084	175921084	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:175921084C>T	ENST00000261942.6	+	6	621	c.569_splice	c.e6+1	p.R190_splice		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	17	38	0	71	190					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TGAGTTTTGTCGGTAAGTGGA	0.403000													1	1	1	1	1	1	1.000000	21	43	0	76	1	9.998864e-01	12	25	0	76	5
CDHR2	54825	broad.mit.edu	37	5	176002378	176002378	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176002378A>G	ENST00000510636.1	+	9	993	c.719A>G	c.(718-720)cAg>cGg	p.Q240R	CDHR2_ENST00000261944.5_Missense_Mutation_p.Q240R|CDHR2_ENST00000506348.1_Missense_Mutation_p.Q240R	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	26	46	0	70	240	Cadherin 2.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTTGACCCCCAGTTTGTCAGG	0.617000													1	1	1	1	1	1	1.000000	27	48	0	75	0	0	1	0	0	75	5
UNC5A	90249	broad.mit.edu	37	5	176304275	176304275	+	Silent	SNP	C	C	T	rs150349541		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176304275C>T	ENST00000329542.4	+	9	1735	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	UNC5A_ENST00000261961.3_Silent_p.D447D	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	29	36	0	55	487	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	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)			AGCCGGAAGACGTGAGGTGTG	0.652000													1	1	1	1	1	1	1.000000	31	38	0	58	0	2.065728e-01	1	1	0	58	5
NSD1	64324	broad.mit.edu	37	5	176639179	176639179	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176639179C>T	ENST00000439151.2	+	5	3824	c.3779C>T	c.(3778-3780)gCt>gTt	p.A1260V	NSD1_ENST00000347982.4_Missense_Mutation_p.A991V|NSD1_ENST00000354179.4_Missense_Mutation_p.A991V|NSD1_ENST00000361032.4_Missense_Mutation_p.A1157V	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	9	23	0	42	1260					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			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	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)		ACACCACAGGCTGAGCTCCCT	0.413000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			1	1	1	1	1	1	0.996475	9	23	0	45	1	9.299872e-01	8	7	0	45	5
NSD1	64324	broad.mit.edu	37	5	176665324	176665324	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176665324T>G	ENST00000439151.2	+	7	4053	c.4008T>G	c.(4006-4008)atT>atG	p.I1336M	NSD1_ENST00000347982.4_Missense_Mutation_p.I1067M|NSD1_ENST00000354179.4_Missense_Mutation_p.I1067M|NSD1_ENST00000361032.4_Missense_Mutation_p.I1233M	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	21	85	0	96	1336					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			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	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)		ATTCTTTGATTTCAACCAAAG	0.502000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			1	1	1	1	1	1	1.000000	22	89	0	100	1	7.939688e-01	3	11	0	100	5
NSD1	64324	broad.mit.edu	37	5	176675273	176675273	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176675273A>C	ENST00000439151.2	+	11	4634	c.4589A>C	c.(4588-4590)aAa>aCa	p.K1530T	NSD1_ENST00000347982.4_Missense_Mutation_p.K1261T|NSD1_ENST00000354179.4_Missense_Mutation_p.K1261T|NSD1_ENST00000361032.4_Missense_Mutation_p.K1427T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	13	27	0	37	1530					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			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	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)		GCCTCTAAAAAAATGCAGGGT	0.498000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			1	1	1	1	1	1	0.999993	17	28	0	40	1	9.843632e-01	7	8	0	40	5
RGS14	10636	broad.mit.edu	37	5	176798548	176798548	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176798548C>T	ENST00000408923.3	+	14	1644	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	74	122	0	202	486					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			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	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)			GGTGAAGGTGCCCAGTAGTGC	0.577000													1	0	1	1	1	1	1.000000	78	139	0	223	1	9.999998e-01	13	30	0	223	4
FAM193B	54540	broad.mit.edu	37	5	176951478	176951478	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:176951478G>A	ENST00000329540.5	-	9	3711	c.882C>T	c.(880-882)gtC>gtT	p.V294V	FAM193B_ENST00000514747.1_Silent_p.V668V|FAM193B_ENST00000443375.2_Silent_p.V635V			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	9	20	0	22	344										kidney(1)|large_intestine(3)	4						TGGGGCCAGCGACCTGGCCCT	0.682000													1	1	1	1	1	1	0.998461	10	20	0	23	1	9.999812e-01	29	30	0	23	5
HNRNPAB	3182	broad.mit.edu	37	5	177634126	177634126	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:177634126A>C	ENST00000358344.3	+	5	826	c.569A>C	c.(568-570)aAg>aCg	p.K190T	HNRNPAB_ENST00000506339.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.K190T|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.K190T|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.K190T	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	33	58	0	120	190	RRM 2.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						ATGGATCCAAAGTTGAACAAA	0.443000													1	1	1	1	1	1	1.000000	37	64	0	128	1	1	388	495	0	128	5
ZNF354B	117608	broad.mit.edu	37	5	178309997	178309997	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178309997G>T	ENST00000322434.3	+	5	770	c.544G>T	c.(544-546)Gaa>Taa	p.E182*		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	9	22	0	29	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	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)			ATTTGCTAAAGAAAAAACTCC	0.299000													1	1	1	1	1	1	0.998374	10	22	0	29	1	9.804631e-01	7	12	0	29	5
ZNF354B	117608	broad.mit.edu	37	5	178310254	178310254	+	Missense_Mutation	SNP	G	G	T	rs147300334	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178310254G>T	ENST00000322434.3	+	5	1027	c.801G>T	c.(799-801)gaG>gaT	p.E267D		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	29	46	0	56	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	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)			ATACAGGAGAGAAACCCTATA	0.353000													1	1	1	1	1	1	1.000000	29	47	0	58	1	9.967117e-01	2	17	0	58	5
ZNF354B	117608	broad.mit.edu	37	5	178310741	178310741	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178310741A>G	ENST00000322434.3	+	5	1514	c.1288A>G	c.(1288-1290)Ata>Gta	p.I430V		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	18	46	0	38	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	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)			TAGACACCGAATAATTCATAC	0.358000													1	1	1	1	1	1	0.999997	19	51	0	36	1	9.560130e-01	10	7	0	36	5
ZNF354B	117608	broad.mit.edu	37	5	178310994	178310994	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178310994G>T	ENST00000322434.3	+	5	1767	c.1541G>T	c.(1540-1542)aGa>aTa	p.R514I	ZNF354B_ENST00000522714.1_3'UTR	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	25	51	0	75	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	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)			AATCACCAGAGAATTCATACT	0.393000													1	1	1	1	1	1	1.000000	25	53	0	80	1	9.952484e-01	8	14	0	80	5
GRM6	2916	broad.mit.edu	37	5	178416330	178416330	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178416330C>A	ENST00000231188.5	-	5	1267	c.1089G>T	c.(1087-1089)gaG>gaT	p.E363D	GRM6_ENST00000517717.1_Missense_Mutation_p.E363D|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	25	47	0	102	363					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	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)		AGTTAAAATTCTCTTCCCAGA	0.547000													1	1	1	1	1	1	1.000000	25	48	0	111	0	0	0	0	0	111	5
ADAMTS2	9509	broad.mit.edu	37	5	178559847	178559847	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:178559847C>T	ENST00000251582.7	-	14	2241	c.2140G>A	c.(2140-2142)Gtg>Atg	p.V714M		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	19	24	0	43	714	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	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)		CCTCCGCACACGCCACACTTG	0.602000													1	1	1	1	1	1	1.000000	21	25	0	48	0	8.313659e-01	0	6	0	48	5
RNF130	55819	broad.mit.edu	37	5	179394008	179394008	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:179394008C>T	ENST00000522208.2	-	7	966	c.948G>A	c.(946-948)ccG>ccA	p.P316P	RNF130_ENST00000521389.1_Silent_p.P316P|RNF130_ENST00000261947.4_Silent_p.P316P			Q86XS8	GOLI_HUMAN	ring finger protein 130	24	47	0	65	316					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	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)			ATGGCAAATTCGGCTGCAAAA	0.423000													1	1	1	1	1	1	1.000000	26	47	0	68	1	1	80	146	0	68	5
MAPK9	5601	broad.mit.edu	37	5	179676006	179676006	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:179676006C>T	ENST00000452135.2	-	6	881	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	MAPK9_ENST00000455781.1_Missense_Mutation_p.E195K|MAPK9_ENST00000539014.1_Missense_Mutation_p.E195K|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Missense_Mutation_p.E195K|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000343111.6_Missense_Mutation_p.E195K|MAPK9_ENST00000393360.3_Missense_Mutation_p.E195K|MAPK9_ENST00000425491.2_Missense_Mutation_p.E195K			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	27	367	1	468	195	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			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	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)			AGGATGACTTCGGGCGCCCGG	0.552000													1	0	1	1	0	1	0.999999	30	405	1	523	1	7.351391e-01	3	34	1	523	3
BTNL8	79908	broad.mit.edu	37	5	180374609	180374609	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:180374609C>A	ENST00000231229.4	+	4	1005	c.771C>A	c.(769-771)ttC>ttA	p.F257L	BTNL8_ENST00000533815.2_Missense_Mutation_p.F73L|BTNL8_ENST00000508408.1_Missense_Mutation_p.F257L|BTNL8_ENST00000511704.1_Missense_Mutation_p.F141L|BTNL8_ENST00000505126.1_Missense_Mutation_p.F50L|BTNL8_ENST00000340184.4_Missense_Mutation_p.F257L|BTNL8_ENST00000400707.3_Missense_Mutation_p.F132L	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	11	238	0	243	257						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	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)			TGAAGATTTTCTTCTCCAAAT	0.488000													1	1	1	1	0	1	0.999569	13	257	0	266	0	0	0	0	0	266	4
TRIM41	90933	broad.mit.edu	37	5	180651723	180651723	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:180651723G>A	ENST00000315073.5	+	1	1434	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	CTC-338M12.7_ENST00000499096.2_RNA|TRIM41_ENST00000351937.5_Missense_Mutation_p.E242K	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	26	54	0	85	242						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.E242*(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	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)			CGAGGTAGACGAAGAGGCCAT	0.587000													1	1	1	1	1	1	1.000000	29	61	0	92	1	9.999997e-01	19	42	0	92	5
FAM217A	222826	broad.mit.edu	37	6	4073522	4073522	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:4073522T>C	ENST00000274673.3	-	6	692	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	20	37	0	52	97																	TTCTCTATGGTACTTCCTTCA	0.308000													1	1	1	1	1	1	1.000000	24	41	0	60	0	0	0	0	0	60	5
RREB1	6239	broad.mit.edu	37	6	7240690	7240690	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:7240690T>G	ENST00000379938.2	+	11	4365	c.3828T>G	c.(3826-3828)tgT>tgG	p.C1276W	RREB1_ENST00000349384.6_Intron|RREB1_ENST00000334984.6_Missense_Mutation_p.C1276W|RREB1_ENST00000379933.3_Intron	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	7	87	0	71	1272					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			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTTCCCTTGTCAAAAATGCG	0.413000													1	1	1	1	0	1	0.990316	8	95	0	79	1	3.069414e-01	2	3	0	79	4
CAGE1	285782	broad.mit.edu	37	6	7373600	7373600	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:7373600G>T	ENST00000502583.1	-	5	2016	c.1452C>A	c.(1450-1452)ttC>ttA	p.F484L	CAGE1_ENST00000338150.4_Missense_Mutation_p.F484L|CAGE1_ENST00000296742.7_Missense_Mutation_p.F348L|CAGE1_ENST00000379918.4_Missense_Mutation_p.F484L|CAGE1_ENST00000512086.1_Missense_Mutation_p.F484L	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	12	11	0	23	484										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GTAAAGACAAGAACTCTTGTT	0.398000													1	1	1	1	1	1	0.999930	13	11	0	26	0	0	0	0	0	26	5
BLOC1S5-TXNDC5	0	broad.mit.edu	37	6	7886244	7886244	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:7886244G>A	ENST00000539054.1	-	8	779	c.780C>T	c.(778-780)ttC>ttT	p.F260F	TXNDC5_ENST00000379757.4_Silent_p.F332F|TXNDC5_ENST00000473453.1_Silent_p.F224F|BLOC1S5-TXNDC5_ENST00000604490.1_Silent_p.F224F						14	19	0	20																		TGGTGTCATCGAAGTTATTTT	0.423000													1	1	1	1	1	1	0.999971	15	22	0	24	1	1	117	175	0	24	5
EEF1E1	9521	broad.mit.edu	37	6	8090502	8090502	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:8090502A>G	ENST00000379715.5	-	3	357	c.301T>C	c.(301-303)Tat>Cat	p.Y101H	EEF1E1_ENST00000429723.2_Missense_Mutation_p.Y101H|EEF1E1_ENST00000507463.1_Missense_Mutation_p.Y101H|EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.Y101H	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	12	14	0	24	101	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					TCTTCAAGATATGAATTAAGA	0.249000													1	1	1	1	1	1	0.999961	14	14	0	26	1	1	58	69	0	26	5
GCNT2	2651	broad.mit.edu	37	6	10556716	10556716	+	Silent	SNP	C	C	T	rs55665031		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:10556716C>T	ENST00000316170.3	+	1	477	c.60C>T	c.(58-60)atC>atT	p.I20I	GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	11	55	0	66	21						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	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)		TTATTTTTATCGTCTTCTCTG	0.388000													1	1	1	1	1	1	0.999400	12	59	0	70	0	0	0	0	0	70	5
GCNT2	2651	broad.mit.edu	37	6	10556860	10556860	+	Missense_Mutation	SNP	G	G	T	rs56393118		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:10556860G>T	ENST00000316170.3	+	1	621	c.204G>T	c.(202-204)gaG>gaT	p.E68D	GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	78	19	0	101	70						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	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)		TGATCCATGAGAAGTCTTCTT	0.413000													1	1	1	1	1	1	1.000000	85	21	0	108	0	9.976438e-01	0	6	0	108	5
MAK	4117	broad.mit.edu	37	6	10819165	10819165	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:10819165C>A	ENST00000313243.2	-	3	492	c.110G>T	c.(109-111)aGa>aTa	p.R37I	MAK_ENST00000538030.1_Missense_Mutation_p.R37I|MAK_ENST00000536370.1_Missense_Mutation_p.R37I|MAK_ENST00000354489.2_Missense_Mutation_p.R37I|MAK_ENST00000474039.1_Missense_Mutation_p.R37I|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	7	4	0	8	37	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				ATAGAACTTTCTCTTCATCCT	0.378000													0	1	1	1	0	1	0.996796	8	5	0	8	1	9.952887e-01	3	7	0	8	3
PHACTR1	221692	broad.mit.edu	37	6	12933942	12933942	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:12933942G>A	ENST00000379348.2	+	4	505	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	67	26	0	118	0						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	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)			TCTTGGGCTCGAACTGTGTTC	0.532000													1	1	1	1	1	1	1.000000	71	27	0	123	0	0	0	0	0	123	5
TBC1D7	51256	broad.mit.edu	37	6	13327102	13327102	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:13327102C>T	ENST00000607658.1	-	2	179	c.29G>A	c.(28-30)cGt>cAt	p.R10H	TBC1D7_ENST00000379300.3_Missense_Mutation_p.R10H|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.R10H|TBC1D7_ENST00000379307.2_Missense_Mutation_p.R10H|TBC1D7_ENST00000356436.4_Missense_Mutation_p.R10H			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	26	7	0	35	10					positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	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)			ATATACTGAACGAAAGTTTCT	0.383000													1	1	1	1	1	1	1.000000	27	7	0	43	1	1	52	5	0	43	5
NUP153	9972	broad.mit.edu	37	6	17629400	17629400	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:17629400C>T	ENST00000262077.2	-	18	3029	c.3030G>A	c.(3028-3030)aaG>aaA	p.K1010K	NUP153_ENST00000537253.1_Silent_p.K1041K	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	10	44	0	47	1010					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			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTTCCTCTTTCTTTTCTTCCT	0.403000													1	1	1	1	1	1	0.999737	13	47	0	51	1	9.912482e-01	6	27	0	51	5
SLC17A3	10786	broad.mit.edu	37	6	25850809	25850809	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:25850809G>T	ENST00000397060.4	-	8	980	c.871C>A	c.(871-873)Ctc>Atc	p.L291I	SLC17A3_ENST00000360657.3_Missense_Mutation_p.L213I|SLC17A3_ENST00000361703.6_Missense_Mutation_p.L213I	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	37	14	0	59	213					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			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						AGAGATCTGAGCATAGCTTTG	0.428000													1	1	1	1	1	1	1.000000	41	15	0	62	0	0	0	0	0	62	5
HIST1H4D	8360	broad.mit.edu	37	6	26189200	26189200	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26189200G>A	ENST00000340756.2	-	1	104	c.105C>T	c.(103-105)atC>atT	p.I35I		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	57	21	0	97	35					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				CCAGGCGGCGGATAGCGGGCT	0.572000													1	1	1	1	1	1	1.000000	59	23	0	100	0	0	1	0	0	100	5
BTN3A2	11118	broad.mit.edu	37	6	26373245	26373245	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26373245C>T	ENST00000356386.2	+	6	1024	c.836C>T	c.(835-837)gCt>gTt	p.A279V	BTN3A2_ENST00000396934.3_Missense_Mutation_p.A256V|BTN3A2_ENST00000396948.1_Missense_Mutation_p.A279V|BTN3A2_ENST00000377708.2_Missense_Mutation_p.A279V|BTN3A2_ENST00000508906.2_Missense_Mutation_p.A237V|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000527422.1_Missense_Mutation_p.A279V	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	28	58	0	95	279						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GAAATAACTGCTCTGTCCAGT	0.512000													1	1	1	1	1	1	1.000000	29	62	0	103	1	5.146443e-01	2	3	0	103	5
BTN3A1	0	broad.mit.edu	37	6	26413752	26413752	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:26413752G>T	ENST00000289361.6	+	10	1742	c.1374G>T	c.(1372-1374)aaG>aaT	p.K458N	BTN3A1_ENST00000414912.2_Missense_Mutation_p.K406N	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	71	39	0	105	458	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGCCCCCTAAGAAAGTGGGGG	0.478000													1	1	1	1	1	1	1.000000	75	43	0	114	1	1	34	9	0	114	5
ZNF391	346157	broad.mit.edu	37	6	27369039	27369039	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:27369039G>T	ENST00000244576.4	+	3	1435	c.890G>T	c.(889-891)aGa>aTa	p.R297I		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	21	34	0	31	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GAACATCAGAGAATCCACAGT	0.478000													1	1	1	1	1	1	1.000000	23	36	0	32	0	5.109573e-01	0	4	0	32	5
HIST1H2BO	8348	broad.mit.edu	37	6	27861429	27861429	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:27861429G>T	ENST00000303806.4	+	1	227	c.189G>T	c.(187-189)atG>atT	p.M63I		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	25	223	0	200	63					nucleosome assembly	nucleosome|nucleus	DNA binding										TGGGCATCATGAACTCCTTCG	0.562000													1	1	1	1	0	1	1.000000	26	232	0	207	0	0	0	1	0	207	4
ZKSCAN8	0	broad.mit.edu	37	6	28120090	28120090	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28120090C>T	ENST00000330236.6	+	5	887	c.703C>T	c.(703-705)Ctt>Ttt	p.L235F	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.L235F	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8	31	62	0	97																		AGAGGAGTGGCTTCTTGATCC	0.448000													1	1	1	1	1	1	1.000000	33	64	0	107	0	0	0	1	0	107	5
ZKSCAN4	387032	broad.mit.edu	37	6	28217588	28217588	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28217588C>A	ENST00000377294.2	-	2	691	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	ZKSCAN4_ENST00000423974.2_5'UTR	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	97	33	0	166	150					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CAGAGCAGTTCTTGCCCCTGG	0.448000													1	1	1	1	1	1	1.000000	107	37	0	196	1	9.407551e-01	3	1	0	196	5
GPX6	257202	broad.mit.edu	37	6	28472164	28472164	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28472164C>T	ENST00000361902.1	-	5	620	c.571G>A	c.(571-573)Gat>Aat	p.D191N	GPX6_ENST00000474923.1_Silent_p.P157P	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	17	48	0	83	191					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GGGACTCCATCGGGCCCCACC	0.517000													1	1	1	1	1	1	0.999994	18	50	0	88	0	0	0	0	0	88	5
SCAND3	114821	broad.mit.edu	37	6	28543364	28543364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:28543364G>T	ENST00000452236.2	-	3	1735	c.1118C>A	c.(1117-1119)tCa>tAa	p.S373*		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	66	33	0	92	373	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTGGCATCTTGAACTAACTTC	0.338000													1	1	1	1	1	1	1.000000	72	33	0	98	0	0	1	0	0	98	5
OR2W1	26692	broad.mit.edu	37	6	29012757	29012757	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:29012757A>C	ENST00000377175.1	-	1	260	c.196T>G	c.(196-198)Tta>Gta	p.L66V		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	9	59	0	57	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGGAAAGATAAATTTCTGAGG	0.418000													1	1	0	1	1	1	0.997579	10	61	0	57	0	0	0	0	0	57	4
OR14J1	442191	broad.mit.edu	37	6	29275214	29275214	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:29275214C>A	ENST00000377160.2	+	1	812	c.748C>A	c.(748-750)Ctt>Att	p.L250I		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	58	107	0	166	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						CACCTTCTTTCTTTCAGCTGC	0.488000													1	1	1	1	1	1	1.000000	65	116	0	186	0	0	0	0	0	186	5
GABBR1	0	broad.mit.edu	37	6	29577119	29577119	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:29577119C>A	ENST00000377034.4	-	15	2081	c.1746G>T	c.(1744-1746)aaG>aaT	p.K582N	GABBR1_ENST00000377016.4_Missense_Mutation_p.K520N|GABBR1_ENST00000377012.4_Missense_Mutation_p.K465N|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000355973.3_Missense_Mutation_p.K465N	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	49	12	0	56	582					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			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	AGCGGAATGTCTTGATGACCA	0.527000													1	1	1	1	1	1	1.000000	53	15	0	67	0	9.999978e-01	0	13	0	67	5
MOG	4340	broad.mit.edu	37	6	29627126	29627126	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:29627126C>A	ENST00000376894.4	+	2	237	c.119C>A	c.(118-120)cCt>cAt	p.P40H	MOG_ENST00000376891.4_Missense_Mutation_p.P40H|MOG_ENST00000376902.3_Missense_Mutation_p.P40H|MOG_ENST00000483013.1_Intron|MOG_ENST00000376917.3_Missense_Mutation_p.P40H|MOG_ENST00000533330.2_Missense_Mutation_p.P40H|MOG_ENST00000376898.3_Missense_Mutation_p.P40H|MOG_ENST00000490427.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000416766.2_Missense_Mutation_p.P40H|MOG_ENST00000431798.2_Missense_Mutation_p.P40H|MOG_ENST00000396701.2_Missense_Mutation_p.P40H|MOG_ENST00000396704.3_Missense_Mutation_p.P40H|MOG_ENST00000494692.1_Missense_Mutation_p.P40H|MOG_ENST00000376888.2_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	14	182	0	261	40	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCAAGACACCCTATCCGGGCT	0.547000													1	1	1	1	0	1	0.999985	18	212	0	305	0	0	0	0	0	305	4
TRIM31	11074	broad.mit.edu	37	6	30080518	30080518	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30080518A>C	ENST00000376734.3	-	2	190	c.65T>G	c.(64-66)aTt>aGt	p.I22S	TRIM31_ENST00000540829.1_Missense_Mutation_p.I22S|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	61	23	0	72	22						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TTTCTGCAGAATGTCCAGGCA	0.483000													1	1	1	1	1	1	1.000000	66	24	0	76	1	1	56	0	0	76	5
DDR1	780	broad.mit.edu	37	6	30859254	30859254	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30859254C>T	ENST00000324771.8	+	8	1211	c.663C>T	c.(661-663)ggC>ggT	p.G221G	DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000376569.3_Silent_p.G221G|DDR1_ENST00000513240.1_Silent_p.G221G|DDR1_ENST00000446312.1_Intron|DDR1_ENST00000454612.2_Silent_p.G221G|DDR1_ENST00000361741.4_5'UTR|DDR1_ENST00000376568.3_Silent_p.G221G|DDR1_ENST00000508312.1_Silent_p.G239G|DDR1_ENST00000376575.3_Silent_p.G221G|DDR1_ENST00000452441.1_Silent_p.G221G|DDR1_ENST00000418800.2_Silent_p.G221G|DDR1_ENST00000376570.4_Silent_p.G221G|DDR1_ENST00000376567.2_Silent_p.G221G			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	25	7	0	35	221					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	ATACCGTGGGCGGGTAAGAAA	0.557000													1	1	1	1	1	1	1.000000	27	7	0	39	1	1	40	5	0	39	5
GTF2H4	2968	broad.mit.edu	37	6	30881673	30881673	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30881673G>T	ENST00000259895.4	+	14	1525	c.1302G>T	c.(1300-1302)gaG>gaT	p.E434D	GTF2H4_ENST00000376316.2_Missense_Mutation_p.E434D	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	24	7	0	26	434					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			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCGTGTTCGAGAACTCGGCCA	0.632000								Nucleotide excision repair (NER)					1	1	1	1	0	1	1.000000	25	7	0	27	1	1	79	7	0	27	4
VARS2	57176	broad.mit.edu	37	6	30891151	30891151	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:30891151G>A	ENST00000321897.5	+	24	2967	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	VARS2_ENST00000542001.1_Missense_Mutation_p.D639N|VARS2_ENST00000541562.1_Missense_Mutation_p.D809N|VARS2_ENST00000416670.2_Missense_Mutation_p.D779N|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	41	16	0	43	779					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CTCCCCGATGGATGCCTGGAT	0.657000													1	1	1	1	1	1	1.000000	42	16	0	44	1	1	55	6	0	44	5
CSNK2B-LY6G5B-1181	0	broad.mit.edu	37	6	31636911	31636911	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:31636911C>A	ENST00000375880.2	+	5	447	c.329C>A	c.(328-330)cCt>cAt	p.P110H	CSNK2B_ENST00000375882.2_Missense_Mutation_p.P110H|CSNK2B_ENST00000375885.4_Missense_Mutation_p.P129H|CSNK2B_ENST00000375866.2_Missense_Mutation_p.P110H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.P110H						16	39	0	52																		GGTTACTGTCCTCGTGTGTAC	0.498000													1	1	1	1	1	1	0.999988	17	45	0	64	1	1	317	393	0	64	5
LY6G6F	259215	broad.mit.edu	37	6	31678182	31678182	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:31678182T>C	ENST00000375832.4	+	5	878	c.856T>C	c.(856-858)Ttg>Ctg	p.L286L	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	169	56	0	187	286						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GAACATCCATTTGGCCCGTCT	0.542000													1	1	1	1	1	1	1.000000	185	62	0	202	0	0	0	0	0	202	5
VPS52	6293	broad.mit.edu	37	6	33235673	33235673	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:33235673C>T	ENST00000445902.2	-	9	1120	c.902G>A	c.(901-903)cGc>cAc	p.R301H	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R176H|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	74	30	0	116	301					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CAGGTAAGAGCGGTAGTAAGA	0.527000													1	1	1	1	1	1	1.000000	84	31	0	125	1	1	40	5	0	125	5
VPS52	6293	broad.mit.edu	37	6	33236869	33236869	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:33236869C>T	ENST00000445902.2	-	6	688	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R32Q|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	118	46	0	159	157					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						ATTTCGAAGTCGAATGTTCAT	0.537000													1	1	1	1	1	1	1.000000	129	49	0	168	1	1	56	3	0	168	5
GRM4	2914	broad.mit.edu	37	6	34026885	34026885	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:34026885C>T	ENST00000374181.3	-	4	1062	c.893G>A	c.(892-894)cGa>cAa	p.R298Q	GRM4_ENST00000535756.1_Missense_Mutation_p.R165Q|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000544773.1_Missense_Mutation_p.R129Q|GRM4_ENST00000538487.1_Missense_Mutation_p.R298Q|GRM4_ENST00000374177.3_Missense_Mutation_p.R229Q|GRM4_ENST00000455714.2_Missense_Mutation_p.R158Q	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	17	25	0	37	298					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			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GTTGGCCCTTCGTGCTGCCTC	0.622000													1	1	1	1	1	1	0.999997	18	29	0	39	0	0	0	0	0	39	5
FANCE	2178	broad.mit.edu	37	6	35425738	35425738	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:35425738C>A	ENST00000229769.2	+	4	1131	c.946C>A	c.(946-948)Ctt>Att	p.L316I		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	42	16	0	59	316	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GCTACAGCTTCTTCACGAATG	0.498000			N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				1	1	1	1	1	1	1.000000	47	17	0	69	1	9.986836e-01	7	1	0	69	5
KCTD20	222658	broad.mit.edu	37	6	36442758	36442758	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:36442758A>C	ENST00000373731.2	+	3	744	c.353A>C	c.(352-354)aAa>aCa	p.K118T	KCTD20_ENST00000536244.1_Intron|KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000474988.1_Intron|KCTD20_ENST00000544295.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	5	60	0	82	118	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GCACCAGAGAAAGTGACGCTT	0.433000													1	0	1	1	0	1	0.939911	5	65	0	89	0	6.243568e-01	0	18	0	89	3
SRSF3	6428	broad.mit.edu	37	6	36566754	36566754	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:36566754G>A	ENST00000373715.6	+	3	451	c.335G>A	c.(334-336)cGt>cAt	p.R112H	SRSF3_ENST00000339436.7_Missense_Mutation_p.R112H	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	4	80	0	81	112	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						CCTCCACCTCGTCGCAGGTAC	0.468000													0	0	1	0	0	1	0.939302	5	88	0	88	1	9.999920e-01	44	742	0	88	1
DNAH8	1769	broad.mit.edu	37	6	38750826	38750826	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38750826G>A	ENST00000359357.3	+	15	1909	c.1655G>A	c.(1654-1656)cGt>cAt	p.R552H	DNAH8_ENST00000441566.1_Missense_Mutation_p.R552H|DNAH8_ENST00000449981.2_Missense_Mutation_p.R769H					dynein, axonemal, heavy chain 8	16	33	0	37											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCTGTCATCCGTCAGTATAAC	0.383000													1	1	1	1	1	1	0.999998	19	36	0	41	0	0	0	0	0	41	5
DNAH8	1769	broad.mit.edu	37	6	38810148	38810148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38810148G>T	ENST00000359357.3	+	32	4074	c.3820G>T	c.(3820-3822)Gaa>Taa	p.E1274*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.E1274*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.E1491*					dynein, axonemal, heavy chain 8	34	16	0	63											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCCCAGAAAAGAACTCAACTT	0.323000													1	1	1	1	1	1	1.000000	37	17	0	74	0	0	0	0	0	74	5
DNAH8	1769	broad.mit.edu	37	6	38810576	38810576	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38810576G>T	ENST00000359357.3	+	33	4345	c.4091G>T	c.(4090-4092)aGa>aTa	p.R1364I	DNAH8_ENST00000441566.1_Missense_Mutation_p.R1364I|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1581I					dynein, axonemal, heavy chain 8	51	15	0	71											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTGGGATAGAATCTCCGAG	0.383000													1	1	1	1	1	1	1.000000	53	16	0	85	0	0	0	0	0	85	5
DNAH8	1769	broad.mit.edu	37	6	38813386	38813386	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38813386G>A	ENST00000359357.3	+	34	4485	c.4231G>A	c.(4231-4233)Gaa>Aaa	p.E1411K	DNAH8_ENST00000441566.1_Missense_Mutation_p.E1411K|DNAH8_ENST00000449981.2_Missense_Mutation_p.E1628K					dynein, axonemal, heavy chain 8	53	25	0	58									p.E1411K(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAGGATATCGAAGCCAAGCT	0.388000													1	1	1	1	1	1	1.000000	59	27	0	64	0	0	0	0	0	64	5
DNAH8	1769	broad.mit.edu	37	6	38913287	38913287	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:38913287C>T	ENST00000359357.3	+	78	11655	c.11401C>T	c.(11401-11403)Cgc>Tgc	p.R3801C	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3765C|DNAH8_ENST00000449981.2_Missense_Mutation_p.R4018C					dynein, axonemal, heavy chain 8	60	23	0	110											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAACCCTATCGCTGGATCCT	0.483000													1	1	1	1	1	1	1.000000	64	24	0	118	0	0	0	0	0	118	5
LRFN2	57497	broad.mit.edu	37	6	40399910	40399910	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:40399910C>T	ENST00000338305.6	-	2	1485	c.943G>A	c.(943-945)Gac>Aac	p.D315N		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	21	47	0	72	315	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGCTGGGGTCCCCAATGGCT	0.597000													1	1	1	1	1	1	1.000000	24	51	0	78	0	0	0	0	0	78	5
TAF8	129685	broad.mit.edu	37	6	42023720	42023720	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:42023720C>A	ENST00000372977.3	+	4	350	c.332C>A	c.(331-333)gCa>gAa	p.A111E	TAF8_ENST00000494547.1_Missense_Mutation_p.A111E|TAF8_ENST00000472818.1_Missense_Mutation_p.A111E|TAF8_ENST00000372982.4_Missense_Mutation_p.A111E|TAF8_ENST00000372978.3_Missense_Mutation_p.A111E|TAF8_ENST00000482432.1_Missense_Mutation_p.A48E|TAF8_ENST00000456846.2_Missense_Mutation_p.A111E|TAF8_ENST00000465926.1_Missense_Mutation_p.A48E|TAF8_ENST00000482926.1_3'UTR	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	34	19	0	32	111					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			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CCTGCTTATGCAAAACGGTCT	0.388000													1	1	1	1	1	1	1.000000	38	23	0	41	1	1	41	2	0	41	5
ABCC10	89845	broad.mit.edu	37	6	43406363	43406363	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:43406363C>T	ENST00000244533.3	+	6	2232	c.1871_splice	c.e6-1	p.L625_splice	ABCC10_ENST00000372530.4_Splice_Site_p.L653_splice	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	14	39	0	60	653	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	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)			TCTCTGCAGGCTGCGTGGGCA	0.622000													1	1	1	1	1	1	0.999976	16	40	0	70	1	9.847441e-01	4	17	0	70	5
XPO5	57510	broad.mit.edu	37	6	43501728	43501728	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:43501728A>G	ENST00000265351.7	-	21	2569	c.2359T>C	c.(2359-2361)Tat>Cat	p.Y787H		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	23	51	0	55	787					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	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)			TCTGGTGCATATAATGTATTG	0.403000													1	1	1	1	1	1	1.000000	26	57	0	63	1	9.999745e-01	22	22	0	63	5
TMEM63B	55362	broad.mit.edu	37	6	44117685	44117685	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:44117685T>C	ENST00000259746.9	+	16	1686	c.1503T>C	c.(1501-1503)ttT>ttC	p.F501F	TMEM63B_ENST00000323267.6_Silent_p.F501F			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	5	21	0	18	501						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	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)			CAGCCTTCTTTGAAGCCCACT	0.597000													1	0	1	1	1	1	0.943342	5	25	0	22	1	9.990991e-01	45	49	0	22	4
SPATS1	221409	broad.mit.edu	37	6	44310906	44310906	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:44310906G>A	ENST00000288390.2	+	1	421	c.74G>A	c.(73-75)gGc>gAc	p.G25D	SPATS1_ENST00000323108.8_Missense_Mutation_p.G25D			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	23	49	0	70	25										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACGACCTGCGGCAGACAGCTG	0.517000													1	1	1	1	1	1	1.000000	24	54	0	74	0	0	0	0	0	74	5
CDC5L	988	broad.mit.edu	37	6	44393877	44393877	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:44393877G>A	ENST00000371477.3	+	12	1906	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	13	32	0	58	536	Interaction with DAPK3 (By similarity).|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			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAAATGAAACGAATGCATAAA	0.348000													1	1	1	1	1	1	0.999978	16	36	0	69	1	9.999999e-01	36	54	0	69	5
CYP39A1	51302	broad.mit.edu	37	6	46555824	46555824	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46555824A>C	ENST00000275016.2	-	9	1311	c.1108T>G	c.(1108-1110)Ttt>Gtt	p.F370V		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	16	29	0	38	370					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		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TGCAGCCAAAATGGAGACAAC	0.289000													1	1	1	1	1	1	0.999996	18	31	0	41	1	9.552488e-01	8	4	0	41	5
TDRD6	221400	broad.mit.edu	37	6	46659193	46659193	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46659193G>T	ENST00000544460.1	+	1	3582	c.3328G>T	c.(3328-3330)Gaa>Taa	p.E1110*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.E1110*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	35	70	0	97	1110					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TATACCAGAAGAAGTGGTGGT	0.378000													1	1	1	1	1	1	1.000000	39	78	0	102	0	0	0	0	0	102	5
TDRD6	221400	broad.mit.edu	37	6	46660805	46660805	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46660805C>A	ENST00000544460.1	+	1	5194	c.4940C>A	c.(4939-4941)tCt>tAt	p.S1647Y	TDRD6_ENST00000316081.6_Missense_Mutation_p.S1647Y	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	26	50	0	61	1647					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GGATTATGTTCTCAAGAGGGA	0.393000													1	1	1	1	1	1	1.000000	31	60	0	69	0	0	0	0	0	69	5
PLA2G7	7941	broad.mit.edu	37	6	46679328	46679328	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46679328A>C	ENST00000274793.7	-	7	764	c.568T>G	c.(568-570)Ttc>Gtc	p.F190V	PLA2G7_ENST00000538237.1_Missense_Mutation_p.F145V|PLA2G7_ENST00000541026.1_Missense_Mutation_p.F63V|PLA2G7_ENST00000537365.1_Missense_Mutation_p.F190V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	44	74	0	129	190					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGGTCCTTGAAATAGTAAGTT	0.413000													1	1	1	1	1	1	1.000000	45	78	0	144	0	8.478838e-01	0	8	0	144	5
PLA2G7	7941	broad.mit.edu	37	6	46682224	46682224	+	Missense_Mutation	SNP	A	A	G	rs149733733		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46682224A>G	ENST00000274793.7	-	5	639	c.443T>C	c.(442-444)gTt>gCt	p.V148A	PLA2G7_ENST00000538237.1_Missense_Mutation_p.V103A|PLA2G7_ENST00000541026.1_Missense_Mutation_p.V21A|PLA2G7_ENST00000537365.1_Missense_Mutation_p.V148A	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	4	75	0	118	148					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			ATGAGAAAAAACAACAAGTGG	0.368000													1	0	1	1	0	1	0.939343	5	86	0	139	0	4.804393e-03	0	2	0	139	3
GPR116	221395	broad.mit.edu	37	6	46826811	46826811	+	Missense_Mutation	SNP	C	C	A	rs144073167		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46826811C>A	ENST00000283296.7	-	17	3117	c.2829G>T	c.(2827-2829)aaG>aaT	p.K943N	GPR116_ENST00000456426.2_Missense_Mutation_p.K801N|GPR116_ENST00000362015.4_Missense_Mutation_p.K943N|GPR116_ENST00000265417.7_Missense_Mutation_p.K943N|GPR116_ENST00000545669.1_Missense_Mutation_p.K372N	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	24	45	0	74	943					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCTATTGTTCTTAAAAGTCA	0.473000													1	1	1	1	1	1	1.000000	24	48	0	80	0	2.681366e-01	0	3	0	80	5
GPR110	266977	broad.mit.edu	37	6	46979827	46979827	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46979827A>C	ENST00000371253.2	-	10	1247	c.1032T>G	c.(1030-1032)aaT>aaG	p.N344K	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.N147K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	40	65	0	105	344					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCGAAGCCAGATTCCCCACTG	0.483000													1	1	1	1	1	1	1.000000	42	70	0	114	1	9.657019e-01	9	3	0	114	5
GPR110	266977	broad.mit.edu	37	6	46995498	46995498	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:46995498C>T	ENST00000371253.2	-	3	285		c.e3-1		GPR110_ENST00000449332.2_Intron|GPR110_ENST00000371243.2_Splice_Site	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	8	36	0	29						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CATCATTTTTCTGTTAAAAAG	0.343000													1	0	1	1	1	1	0.995807	9	37	0	30	0	5.700552e-01	1	8	0	30	4
TNFRSF21	27242	broad.mit.edu	37	6	47200581	47200581	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47200581C>T	ENST00000296861.2	-	6	2281	c.1888G>A	c.(1888-1890)Gaa>Aaa	p.E630K		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	73	117	0	156	630					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity	p.E630K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCAATAATTTCGAATAGCCGG	0.493000													1	1	1	1	1	1	1.000000	82	124	0	172	1	1	116	140	0	172	5
CD2AP	23607	broad.mit.edu	37	6	47547185	47547185	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47547185A>C	ENST00000359314.5	+	9	1424	c.968A>C	c.(967-969)aAt>aCt	p.N323T		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	19	29	0	51	323	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	p.N323I(1)		kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			TTTCCAGACAATTTTGCTGTC	0.348000													1	1	1	1	1	1	0.999999	20	29	0	57	1	9.999807e-01	14	21	0	57	5
OPN5	221391	broad.mit.edu	37	6	47776108	47776108	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47776108G>T	ENST00000489301.2	+	5	1060	c.975G>T	c.(973-975)aaG>aaT	p.K325N	OPN5_ENST00000371211.2_Missense_Mutation_p.K325N|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.K325N			Q6U736	OPN5_HUMAN	opsin 5	7	68	0	95	325					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AAGCAACCAAGAAGAAGTCTC	0.413000													1	0	1	1	0	1	0.982256	7	72	0	102	0	0	0	0	0	102	3
PTCHD4	442213	broad.mit.edu	37	6	47846423	47846423	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47846423G>T	ENST00000339488.4	-	3	2190	c.2157C>A	c.(2155-2157)atC>atA	p.I719I		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	13	28	0	46	719						integral to membrane	hedgehog receptor activity										TCAAGGTGTAGATAAGGCACA	0.438000													1	1	1	1	1	1	0.999803	13	30	0	49	0	0	0	1	0	49	5
PTCHD4	442213	broad.mit.edu	37	6	47846815	47846815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47846815G>A	ENST00000339488.4	-	3	1798	c.1765C>T	c.(1765-1767)Cga>Tga	p.R589*		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	5	26	0	54	589						integral to membrane	hedgehog receptor activity	p.R589*(1)									ATATCATTTCGAAAATGCTGG	0.423000													1	1	1	1	1	1	0.969998	6	27	0	54	0	0	0	1	0	54	5
PTCHD4	442213	broad.mit.edu	37	6	47976683	47976683	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:47976683G>T	ENST00000543600.1	-	2	582	c.543C>A	c.(541-543)ttC>ttA	p.F181L	PTCHD4_ENST00000339488.4_Missense_Mutation_p.F198L			Q6ZW05	CF138_HUMAN	patched domain containing 4	14	25	0	50	198						integral to membrane	hedgehog receptor activity										TAAGCTTACAGAACTCATTCT	0.502000													1	1	1	1	1	1	0.999921	14	26	0	50	0	0	0	0	0	50	5
CRISP1	167	broad.mit.edu	37	6	49803104	49803104	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:49803104A>G	ENST00000335847.4	-	8	776	c.675T>C	c.(673-675)caT>caC	p.H225H	CRISP1_ENST00000329411.5_3'UTR|CRISP1_ENST00000505118.1_Silent_p.H225H|CRISP1_ENST00000536021.1_3'UTR|CRISP1_ENST00000355791.2_Silent_p.H225H|CRISP1_ENST00000507853.1_3'UTR	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	6	88	0	87	225					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					ATCCCAGATAATGGACTTGTA	0.363000													1	1	1	1	0	1	0.981866	7	94	0	93	0	0	0	0	0	93	4
TFAP2B	7021	broad.mit.edu	37	6	50811104	50811104	+	Nonstop_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:50811104G>T	ENST00000263046.4	+	8	1575	c.1409G>T	c.(1408-1410)tGa>tTa	p.*470L	TFAP2B_ENST00000393655.3_Nonstop_Mutation_p.*461L			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	4	20	0	50	0					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			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CACAGGAAATGAAAAATTTTT	0.348000													0	0	0	1	1	1	0.895677	4	22	0	52	0	0	0	0	0	52	2
PKHD1	5314	broad.mit.edu	37	6	51524480	51524480	+	Missense_Mutation	SNP	G	G	A	rs148617572		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:51524480G>A	ENST00000371117.3	-	61	10719	c.10444C>T	c.(10444-10446)Cgc>Tgc	p.R3482C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	30	40	0	81	3482			R -> C (in ARPKD).		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	p.R3482C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGAAAAAAGCGCAAAACTTGA	0.443000													1	1	1	1	1	1	1.000000	33	48	0	88	0	0	0	0	0	88	5
PKHD1	5314	broad.mit.edu	37	6	51524753	51524753	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:51524753C>T	ENST00000371117.3	-	61	10446	c.10171G>A	c.(10171-10173)Gaa>Aaa	p.E3391K		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	9	14	0	22	3391					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	p.E3391*(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CATTTCTGTTCTTCTCTAAAT	0.348000													1	1	1	1	1	1	0.997155	9	15	0	22	0	0	0	0	0	22	5
PKHD1	5314	broad.mit.edu	37	6	51612695	51612695	+	Missense_Mutation	SNP	C	C	T	rs146649803		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:51612695C>T	ENST00000371117.3	-	58	9994	c.9719G>A	c.(9718-9720)cGa>cAa	p.R3240Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.R3240Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	47	62	0	102	3240					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	p.R3240Q(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AATACCAATTCGACCTCCTCT	0.478000													1	1	1	1	1	1	1.000000	53	71	0	107	0	0	0	0	0	107	5
MCM3	4172	broad.mit.edu	37	6	52138700	52138700	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:52138700C>T	ENST00000596288.1	-	10	1551	c.1524G>A	c.(1522-1524)aaG>aaA	p.K508K	MCM3_ENST00000419835.2_Silent_p.K417K|MCM3_ENST00000229854.7_Silent_p.K463K	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	20	41	0	50	463					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			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CCATTGGAGTCTTATACTGGT	0.483000													1	1	1	1	1	1	1.000000	21	47	0	50	1	1	97	111	0	50	5
LRRC1	55227	broad.mit.edu	37	6	53785453	53785453	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:53785453A>C	ENST00000370888.1	+	13	1587	c.1310A>C	c.(1309-1311)aAc>aCc	p.N437T	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	10	46	0	75	437						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GCACTGGAGAACTTGGTAAAT	0.463000													1	1	1	1	1	1	0.998868	11	49	0	81	1	9.997400e-01	18	57	0	81	5
FAM83B	222584	broad.mit.edu	37	6	54804852	54804852	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:54804852T>G	ENST00000306858.7	+	5	1199	c.1083T>G	c.(1081-1083)caT>caG	p.H361Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	6	65	0	66	361										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACAAACCTCATTTTGTTCCTA	0.343000													1	1	1	1	0	1	0.967129	6	67	0	71	0	9.824561e-03	0	2	0	71	4
FAM83B	222584	broad.mit.edu	37	6	54806276	54806276	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:54806276C>T	ENST00000306858.7	+	5	2623	c.2507C>T	c.(2506-2508)tCg>tTg	p.S836L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	12	23	0	55	836	Poly-Ser.									autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCTTCCTCATCGAATTCTCAA	0.383000													1	1	1	1	1	1	0.999637	12	24	0	57	1	8.778501e-01	4	6	0	57	5
HCRTR2	3062	broad.mit.edu	37	6	55039482	55039482	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:55039482G>A	ENST00000370862.3	+	1	433	c.97G>A	c.(97-99)Gac>Aac	p.D33N		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	48	97	0	177	33					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAACCCCACCGACTATGACGA	0.537000													1	1	1	1	1	1	1.000000	53	106	0	195	0	0	0	0	0	195	5
HCRTR2	3062	broad.mit.edu	37	6	55113604	55113604	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:55113604C>T	ENST00000370862.3	+	2	727	c.391C>T	c.(391-393)Cct>Tct	p.P131S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	46	84	0	167	131					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAAAGTGATTCCTTATCTACA	0.428000													1	1	1	1	1	1	1.000000	49	89	0	186	0	0	0	0	0	186	5
DST	667	broad.mit.edu	37	6	56417403	56417403	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56417403G>T	ENST00000370754.5	-	61	16093	c.16094C>A	c.(16093-16095)tCt>tAt	p.S5365Y	DST_ENST00000244364.6_Missense_Mutation_p.S2773Y|DST_ENST00000421834.2_Missense_Mutation_p.S3099Y|DST_ENST00000370788.2_Missense_Mutation_p.S3099Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.S4861Y|DST_ENST00000361203.3_Missense_Mutation_p.S5185Y|DST_ENST00000370769.4_Missense_Mutation_p.S5187Y			Q03001	DYST_HUMAN	dystonin	15	16	0	36	5185					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|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			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCGAACTGAGAAAACATTTC	0.408000													1	1	1	1	1	1	0.999979	15	17	0	38	0	0	1	0	0	38	5
DST	667	broad.mit.edu	37	6	56470005	56470005	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56470005A>C	ENST00000370754.5	-	39	9321	c.9322T>G	c.(9322-9324)Ttt>Gtt	p.F3108V	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.F2930V|DST_ENST00000446842.2_Missense_Mutation_p.F2604V|DST_ENST00000361203.3_Missense_Mutation_p.F2930V|DST_ENST00000370769.4_Missense_Mutation_p.F2930V			Q03001	DYST_HUMAN	dystonin	8	14	0	21	2930					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|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			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATGTGTCAAAAATTTCTTCA	0.338000													1	1	1	1	1	1	0.994006	8	14	0	22	0	0	0	0	0	22	5
DST	667	broad.mit.edu	37	6	56484298	56484298	+	Nonsense_Mutation	SNP	G	G	A	rs141517051		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56484298G>A	ENST00000370765.6	-	23	4641	c.4534C>T	c.(4534-4536)Cga>Tga	p.R1512*	DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	8	21	0	32	5191					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|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			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTCATCTCGAAAAGAATGA	0.338000													1	1	1	1	1	1	0.992692	8	23	0	32	0	0	0	1	0	32	5
DST	667	broad.mit.edu	37	6	56485398	56485398	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56485398C>A	ENST00000370765.6	-	23	3541	c.3434G>T	c.(3433-3435)aGa>aTa	p.R1145I	DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	42	88	0	128	1476					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|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			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCTACCATTCTTTCCAACTC	0.433000													1	1	1	1	1	1	1.000000	44	94	0	134	0	0	0	0	0	134	5
BEND6	221336	broad.mit.edu	37	6	56882055	56882055	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56882055G>T	ENST00000370746.3	+	5	839	c.570G>T	c.(568-570)caG>caT	p.Q190H	BEND6_ENST00000545789.1_Missense_Mutation_p.Q92H|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	7	15	0	35	190	BEN.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GCAAGCCTCAGAAGTTTATTA	0.388000													1	1	1	1	1	1	0.997050	9	16	0	39	0	0	0	0	0	39	5
BEND6	221336	broad.mit.edu	37	6	56882100	56882100	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:56882100C>T	ENST00000370746.3	+	5	884	c.615C>T	c.(613-615)taC>taT	p.Y205Y	BEND6_ENST00000545789.1_Silent_p.Y107Y|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	9	19	0	38	205	BEN.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CAAATGAATACATGGCCACTC	0.393000													1	0	1	1	1	1	0.996615	9	21	0	38	0	0	0	0	0	38	4
ZNF451	26036	broad.mit.edu	37	6	57013143	57013143	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:57013143C>T	ENST00000370706.4	+	10	2504	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C	RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R754C|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R754C|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	11	21	0	17	754					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACTGTGGTTTCGCTGCAGTTT	0.413000													1	1	1	1	1	1	0.999673	12	21	0	19	1	9.071660e-01	2	8	0	19	5
PRIM2	5558	broad.mit.edu	37	6	57183336	57183336	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:57183336G>A	ENST00000607273.1	+	2	180	c.93G>A	c.(91-93)caG>caA	p.Q31Q	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	4	8	0	8	31					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			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTACTTGCAGCCACCTTCTG	0.368000													0	0	1	0	0	1	0.903106	4	8	0	8	1	9.814991e-01	10	12	0	8	1
KHDRBS2	202559	broad.mit.edu	37	6	62995813	62995813	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:62995813T>C	ENST00000281156.4	-	1	319	c.41A>G	c.(40-42)aAa>aGa	p.K14R		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	12	28	0	57	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CAGGCTATCTTTCTCTGCCAT	0.587000													1	1	1	1	1	1	0.999594	12	28	0	63	0	0	0	1	0	63	5
LGSN	51557	broad.mit.edu	37	6	64004906	64004906	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:64004906C>A	ENST00000370658.5	-	2	108	c.75G>T	c.(73-75)atG>atT	p.M25I	LGSN_ENST00000370657.4_Missense_Mutation_p.M25I	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	12	29	0	45	25					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTAATGTGTTCATGCTGTTGG	0.343000													1	1	1	1	1	1	0.999799	13	31	0	49	0	0	0	0	0	49	5
EYS	346007	broad.mit.edu	37	6	66200576	66200576	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:66200576C>T	ENST00000503581.1	-	5	1310	c.773G>A	c.(772-774)gGc>gAc	p.G258D	EYS_ENST00000370616.2_Missense_Mutation_p.G258D|EYS_ENST00000370618.3_Missense_Mutation_p.G258D|EYS_ENST00000370621.3_Missense_Mutation_p.G258D|EYS_ENST00000393380.2_Missense_Mutation_p.G258D|EYS_ENST00000342421.5_Missense_Mutation_p.G258D	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	5	22	0	32	258	EGF-like 3.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTGACACTGGCCAATTATTTC	0.303000													1	0	1	1	0	1	0.970343	6	25	0	38	0	0	0	0	0	38	3
LMBRD1	55788	broad.mit.edu	37	6	70386119	70386119	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:70386119T>G	ENST00000370577.3	-	16	1783	c.1554A>C	c.(1552-1554)aaA>aaC	p.K518N	LMBRD1_ENST00000370570.1_Missense_Mutation_p.K445N	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	8	25	0	34	518					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						CAATAACCGATTTCTTCCCTT	0.323000													1	1	1	1	1	1	0.992231	8	28	0	38	1	9.999843e-01	23	84	0	38	5
COL19A1	1310	broad.mit.edu	37	6	70859890	70859890	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:70859890C>A	ENST00000322773.4	+	30	2092	c.1990C>A	c.(1990-1992)Cca>Aca	p.P664T	COL19A1_ENST00000393344.1_Missense_Mutation_p.P286T	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	42	83	0	143	664	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCAGGGAGTTCCAGGGAGAGA	0.483000													1	1	1	1	1	1	1.000000	48	90	0	169	0	0	0	0	0	169	5
COL9A1	1297	broad.mit.edu	37	6	71004214	71004214	+	Nonsense_Mutation	SNP	G	G	A	rs147237457		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71004214G>A	ENST00000357250.6	-	5	510	c.352C>T	c.(352-354)Cga>Tga	p.R118*	COL9A1_ENST00000370496.3_Nonsense_Mutation_p.R118*	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	34	53	0	121	118	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGTCATTCGAAACGTCGTC	0.403000													1	1	1	1	1	1	1.000000	34	56	0	131	0	0	0	0	0	131	5
FAM135A	57579	broad.mit.edu	37	6	71233777	71233777	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71233777C>A	ENST00000418814.2	+	14	1825	c.1211C>A	c.(1210-1212)tCa>tAa	p.S404*	FAM135A_ENST00000370479.3_Nonsense_Mutation_p.S387*|FAM135A_ENST00000505769.1_Nonsense_Mutation_p.S404*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.S404*|FAM135A_ENST00000457062.2_Nonsense_Mutation_p.S387*|FAM135A_ENST00000361499.3_Nonsense_Mutation_p.S404*	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	9	12	0	40	404										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GATCTCAATTCATTACCTATA	0.328000													1	1	1	1	1	1	0.997517	9	12	0	40	0	4.065217e-01	0	3	0	40	5
FAM135A	57579	broad.mit.edu	37	6	71235797	71235797	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71235797A>C	ENST00000418814.2	+	15	3624	c.3010A>C	c.(3010-3012)Aat>Cat	p.N1004H	FAM135A_ENST00000370479.3_Missense_Mutation_p.N791H|FAM135A_ENST00000505769.1_Missense_Mutation_p.N584H|FAM135A_ENST00000505868.1_Missense_Mutation_p.N1004H|FAM135A_ENST00000457062.2_Missense_Mutation_p.N791H|FAM135A_ENST00000361499.3_Missense_Mutation_p.N808H	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	18	16	0	44	1004										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGATGTATTAAATCTCACACA	0.348000													1	1	1	1	1	1	0.999999	18	16	0	45	0	8.974190e-01	1	5	0	45	5
FAM135A	57579	broad.mit.edu	37	6	71245997	71245997	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:71245997C>T	ENST00000418814.2	+	19	4614	c.4000C>T	c.(4000-4002)Cgt>Tgt	p.R1334C	FAM135A_ENST00000370479.3_Missense_Mutation_p.R1121C|FAM135A_ENST00000505769.1_Missense_Mutation_p.R914C|FAM135A_ENST00000505868.1_Missense_Mutation_p.R1334C|FAM135A_ENST00000457062.2_Missense_Mutation_p.R1121C|FAM135A_ENST00000361499.3_Missense_Mutation_p.R1138C	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	18	30	0	60	1334										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTTAATAATTCGTTCAGTGCT	0.343000													1	1	1	1	1	1	0.999998	19	34	0	73	1	9.965442e-01	15	6	0	73	5
RIMS1	0	broad.mit.edu	37	6	72806813	72806813	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:72806813G>A	ENST00000264839.7	+	3	407	c.407G>A	c.(406-408)cGc>cAc	p.R136H	RIMS1_ENST00000517960.1_Missense_Mutation_p.R136H|RIMS1_ENST00000522291.1_Missense_Mutation_p.R136H|RIMS1_ENST00000491071.2_Missense_Mutation_p.R136H|RIMS1_ENST00000521978.1_Missense_Mutation_p.R136H|RIMS1_ENST00000520567.1_Missense_Mutation_p.R136H|RIMS1_ENST00000348717.5_Missense_Mutation_p.R136H|RIMS1_ENST00000518273.1_Missense_Mutation_p.R136H			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	14	25	0	51	136	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	p.R136H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCCTATTGTCGCACTAAGTTC	0.507000													1	1	1	1	1	1	0.999965	15	26	0	53	0	0	0	0	0	53	5
RIMS1	0	broad.mit.edu	37	6	72945357	72945357	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:72945357C>T	ENST00000264839.7	+	8	1783	c.1783C>T	c.(1783-1785)Cga>Tga	p.R595*	RIMS1_ENST00000401910.3_Nonsense_Mutation_p.R69*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.R54*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R595*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R595*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R595*|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.R69*|RIMS1_ENST00000425662.2_5'UTR|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R595*			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	3	18	0	15	595					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			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGAGGGGGACCGATTAATTGG	0.368000													1	0	1	1	1	1	0.896421	4	19	0	20	0	0	0	0	0	20	4
KCNQ5	56479	broad.mit.edu	37	6	73834249	73834249	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:73834249C>A	ENST00000370392.1	+	9	1345	c.1261C>A	c.(1261-1263)Ctc>Atc	p.L421I	KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000370398.1_Intron|KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000403813.2_Intron			Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	18	24	0	36	0					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGTGATTTCTCTCTTGCTACA	0.363000													1	0	1	1	1	1	1.000000	20	26	0	39	0	0	0	0	0	39	4
DDX43	55510	broad.mit.edu	37	6	74124304	74124304	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:74124304C>T	ENST00000370336.4	+	14	1798	c.1640C>T	c.(1639-1641)gCc>gTc	p.A547V	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	31	45	0	88	547	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ACTGATCTAGCCTCTAGAGGA	0.383000													1	1	1	1	1	1	1.000000	32	46	0	94	0	9.977951e-01	0	17	0	94	5
SLC17A5	26503	broad.mit.edu	37	6	74325059	74325059	+	Missense_Mutation	SNP	G	G	A	rs150686745		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:74325059G>A	ENST00000355773.5	-	8	1358	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	21	31	0	55	364					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity	p.R364C(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAATTCTGCGAACACATAAA	0.343000													1	1	1	1	1	1	1.000000	21	33	0	57	1	9.987469e-01	10	12	0	57	5
CD109	135228	broad.mit.edu	37	6	74472181	74472181	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:74472181A>G	ENST00000437994.2	+	8	1264	c.833A>G	c.(832-834)aAa>aGa	p.K278R	CD109_ENST00000422508.2_Missense_Mutation_p.K201R|CD109_ENST00000287097.5_Missense_Mutation_p.K278R	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	11	17	0	23	278						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGAAAGAAGAAAAATATTACA	0.289000													1	1	1	1	1	1	0.999869	13	19	0	25	0	0	0	1	0	25	5
FILIP1	27145	broad.mit.edu	37	6	76023417	76023417	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:76023417G>A	ENST00000393004.2	-	5	2352	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	FILIP1_ENST00000237172.7_Missense_Mutation_p.R711W|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R612W			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	28	123	0	170	711								p.R711W(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTTCCAACCGAAATCTGTGT	0.413000													1	1	1	1	1	1	1.000000	29	130	0	193	0	0	0	0	0	193	5
IMPG1	3617	broad.mit.edu	37	6	76728558	76728558	+	Silent	SNP	G	G	A	rs142510377	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:76728558G>A	ENST00000369950.3	-	7	873	c.684C>T	c.(682-684)ttC>ttT	p.F228F	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	11	27	0	63	228					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CCAACACAGCGAATTCTGTTT	0.413000													1	1	1	1	1	1	0.999078	11	31	0	72	0	0	0	0	0	72	5
HTR1B	3351	broad.mit.edu	37	6	78172516	78172516	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:78172516T>C	ENST00000369947.2	-	1	974	c.605A>G	c.(604-606)aAc>aGc	p.N202S		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	7	34	0	83	202					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			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		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)	GTGGTCGGTGTTCACCACGCA	0.587000													1	1	1	1	1	1	0.983838	7	35	0	87	0	0	0	0	0	87	5
HTR1B	3351	broad.mit.edu	37	6	78172749	78172749	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:78172749G>T	ENST00000369947.2	-	1	741	c.372C>A	c.(370-372)ttC>ttA	p.F124L		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	33	76	0	109	124			F -> C (in dbSNP:rs130060).		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			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		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)	ACGACAGCCAGAAGTCACAGA	0.612000													1	1	1	1	1	1	1.000000	38	79	0	115	0	0	0	0	0	115	5
PHIP	55023	broad.mit.edu	37	6	79650668	79650668	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:79650668T>G	ENST00000275034.4	-	40	5375	c.5208A>C	c.(5206-5208)aaA>aaC	p.K1736N	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	26	67	0	85	1736					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			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		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)		TCCTTAACACTTTGACACTTG	0.393000													1	1	1	1	1	1	1.000000	30	77	0	96	1	9.279327e-01	5	9	0	96	5
PHIP	55023	broad.mit.edu	37	6	79657392	79657392	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:79657392A>G	ENST00000275034.4	-	36	4321	c.4154T>C	c.(4153-4155)gTc>gCc	p.V1385A	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	10	34	0	37	1385	Bromo 2.				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			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		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)		AATAAGTCTGACATCTTTACA	0.343000													1	1	1	1	1	1	0.999006	11	36	0	38	1	3.566966e-01	3	2	0	38	5
TTK	7272	broad.mit.edu	37	6	80717701	80717701	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:80717701A>C	ENST00000509894.1	+	3	1144	c.315A>C	c.(313-315)caA>caC	p.Q105H	TTK_ENST00000230510.3_Missense_Mutation_p.Q105H|TTK_ENST00000369798.2_Missense_Mutation_p.Q105H			P33981	TTK_HUMAN	TTK protein kinase	21	34	0	43	105					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			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		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)		AATATGGCCAAAATGAGAGTT	0.333000													1	1	1	1	1	1	1.000000	24	35	0	49	1	9.826220e-01	7	6	0	49	5
TTK	7272	broad.mit.edu	37	6	80737720	80737720	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:80737720A>C	ENST00000509894.1	+	13	2339	c.1510A>C	c.(1510-1512)Aat>Cat	p.N504H	TTK_ENST00000230510.3_Missense_Mutation_p.N504H|TTK_ENST00000369798.2_Missense_Mutation_p.N505H			P33981	TTK_HUMAN	TTK protein kinase	12	35	0	46	505					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			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		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)		TCCACTTCAAAATTTACAGGT	0.373000													1	1	1	1	1	1	0.999945	15	43	0	54	1	9.996752e-01	20	26	0	54	5
BCKDHB	594	broad.mit.edu	37	6	80912855	80912855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:80912855G>T	ENST00000320393.6	+	8	924	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	BCKDHB_ENST00000356489.5_Nonsense_Mutation_p.E293*|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	31	49	0	84	293					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CATGGCAAAAGAAAAGCTTGG	0.373000													1	1	1	1	1	1	1.000000	37	58	0	97	0	9.802245e-01	1	12	0	97	5
DOPEY1	23033	broad.mit.edu	37	6	83848209	83848209	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:83848209G>A	ENST00000349129.2	+	21	4708	c.4448G>A	c.(4447-4449)cGa>cAa	p.R1483Q	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R1464Q|DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1474Q	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	19	35	0	51	1483					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		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)		ATAGGCAATCGAAACATGCAA	0.368000													1	1	1	1	1	1	0.999999	20	37	0	55	1	2.931092e-01	3	0	0	55	5
SNAP91	9892	broad.mit.edu	37	6	84302200	84302200	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:84302200G>T	ENST00000428679.2	-	21	2497	c.1904C>A	c.(1903-1905)tCt>tAt	p.S635Y	SNAP91_ENST00000195649.6_Missense_Mutation_p.S635Y|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000521485.1_Missense_Mutation_p.S635Y|SNAP91_ENST00000520302.1_Intron|SNAP91_ENST00000521743.1_Missense_Mutation_p.S635Y|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000369694.2_Missense_Mutation_p.S635Y|SNAP91_ENST00000439399.2_Missense_Mutation_p.S635Y			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	6	13	0	21	635					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		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)		GACACCTGAAGAATCCACCTT	0.423000													1	0	1	1	1	1	0.986626	7	16	0	25	0	0	0	0	0	25	4
CYB5R4	51167	broad.mit.edu	37	6	84649908	84649908	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:84649908T>G	ENST00000369681.4	+	13	1382	c.1242T>G	c.(1240-1242)acT>acG	p.T414T	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	10	38	0	49	414					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(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		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)		ATGCTTTGACTGATATACCCA	0.333000													1	1	1	1	1	1	0.999478	12	43	0	51	1	9.989274e-01	12	37	0	51	5
KIAA1009	22832	broad.mit.edu	37	6	84859327	84859327	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:84859327G>T	ENST00000403245.3	-	24	3839	c.3725C>A	c.(3724-3726)tCt>tAt	p.S1242Y	KIAA1009_ENST00000257766.4_Missense_Mutation_p.S1166Y|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	17	29	0	45	1242					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	p.S1242Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		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)		TTTGGAAGAAGAATTTTCTAC	0.363000													1	1	1	1	1	1	0.999992	17	29	0	46	1	9.999153e-01	10	25	0	46	5
ZNF292	23036	broad.mit.edu	37	6	87967813	87967813	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:87967813T>G	ENST00000369577.3	+	8	4509	c.4466T>G	c.(4465-4467)aTt>aGt	p.I1489S	ZNF292_ENST00000339907.4_Missense_Mutation_p.I1484S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	10	22	0	26	1489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		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)		GGTAGTGAAATTATTAAACAG	0.413000													1	1	1	1	1	1	0.998374	10	22	0	27	1	7.590588e-01	5	3	0	27	5
ZNF292	23036	broad.mit.edu	37	6	87969514	87969514	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:87969514C>T	ENST00000369577.3	+	8	6210	c.6167C>T	c.(6166-6168)tCt>tTt	p.S2056F	ZNF292_ENST00000339907.4_Missense_Mutation_p.S2051F	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	9	16	0	12	2056					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		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)		ACAGAAAGTTCTTTACAAGTG	0.353000													0	1	1	1	1	1	0.997050	9	16	0	12	1	9.783407e-01	10	6	0	12	4
GJA10	84694	broad.mit.edu	37	6	90605648	90605648	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:90605648G>A	ENST00000369352.1	+	1	1461	c.1461G>A	c.(1459-1461)ccG>ccA	p.P487P		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	39	76	0	111	487					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		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)		CAGCCCTACCGATCATGGAAC	0.478000													1	1	1	1	1	1	1.000000	41	84	0	121	0	0	0	0	0	121	5
FUT9	10690	broad.mit.edu	37	6	96651946	96651946	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:96651946C>T	ENST00000302103.5	+	3	1241	c.915C>T	c.(913-915)gtC>gtT	p.V305V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	5	36	0	63	305					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		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)		TGAAGGAAGTCGACAAAAACA	0.373000													1	1	1	1	1	1	0.941596	5	37	0	67	0	0	0	0	0	67	5
GPR63	0	broad.mit.edu	37	6	97246800	97246800	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:97246800G>A	ENST00000229955.3	-	2	1153	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	GPR63_ENST00000417980.1_Missense_Mutation_p.R270W	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	38	83	0	111	270						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		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)		GCATTGTGCCGAAGGGTGTTG	0.468000													1	1	1	1	1	1	1.000000	42	85	0	119	0	0	0	0	0	119	5
FBXL4	26235	broad.mit.edu	37	6	99323520	99323520	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:99323520A>C	ENST00000369244.2	-	9	1901	c.1473T>G	c.(1471-1473)aaT>aaG	p.N491K	FBXL4_ENST00000229971.1_Missense_Mutation_p.N491K			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	11	62	0	97	491					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TCTCAGTAATATTCTTACATC	0.468000													1	1	1	1	1	1	0.998745	11	67	0	103	1	9.703923e-01	6	34	0	103	5
PNISR	25957	broad.mit.edu	37	6	99848627	99848627	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:99848627G>A	ENST00000369239.5	-	12	2411	c.2207C>T	c.(2206-2208)tCt>tTt	p.S736F	PNISR_ENST00000438806.1_Missense_Mutation_p.S736F	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	29	35	0	68	736	Ser-rich.					nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						ATCCTGTCTAGAATCATGTCT	0.353000													1	1	1	1	1	1	1.000000	30	37	0	70	1	1	42	42	0	70	5
PNISR	25957	broad.mit.edu	37	6	99849197	99849197	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:99849197G>T	ENST00000369239.5	-	12	1841	c.1637C>A	c.(1636-1638)tCt>tAt	p.S546Y	PNISR_ENST00000438806.1_Missense_Mutation_p.S546Y	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	14	41	0	60	546	Ser-rich.					nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGACCGAGAAGAAGTACGACT	0.423000													1	1	1	1	1	1	0.999885	14	41	0	60	1	9.999998e-01	51	53	0	60	5
PRDM13	59336	broad.mit.edu	37	6	100057121	100057121	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:100057121C>A	ENST00000369214.1	+	3	626	c.365C>A	c.(364-366)tCt>tAt	p.S122Y	PRDM13_ENST00000369215.4_Missense_Mutation_p.S112Y	NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	11	22	0	50	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|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;0.0598)		GTGTGGTATTCTAACTCCTTG	0.537000													1	1	1	1	1	1	0.999830	13	25	0	51	0	0	0	1	0	51	5
MCHR2	84539	broad.mit.edu	37	6	100403957	100403957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:100403957C>A	ENST00000281806.2	-	2	381	c.67G>T	c.(67-69)Gag>Tag	p.E23*	MCHR2_ENST00000445970.1_Nonsense_Mutation_p.E23*|MCHR2_ENST00000369212.1_Nonsense_Mutation_p.E23*	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	31	69	0	99	23						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		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)		TAAGCAAACTCTTTATTCCAG	0.423000													1	1	1	1	1	1	1.000000	36	78	0	109	0	0	0	0	0	109	5
SIM1	6492	broad.mit.edu	37	6	100838345	100838345	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:100838345G>T	ENST00000369208.3	-	12	2975	c.2193C>A	c.(2191-2193)tcC>tcA	p.S731S	SIM1_ENST00000262901.4_Silent_p.S731S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	27	84	0	145	731	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		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)		TACAGCCCAAGGAATAGTTTC	0.448000													1	1	1	1	1	1	1.000000	27	90	0	159	0	0	0	0	0	159	5
ASCC3	10973	broad.mit.edu	37	6	101248328	101248328	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:101248328T>G	ENST00000369162.2	-	6	1319	c.975A>C	c.(973-975)caA>caC	p.Q325H	ASCC3_ENST00000522650.1_Missense_Mutation_p.Q325H	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	11	11	0	28	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		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)		GAATAGTGACTTGACAACCAT	0.303000													1	1	1	1	1	1	0.999809	12	12	0	31	1	9.133296e-01	3	4	0	31	5
PREP	5550	broad.mit.edu	37	6	105825262	105825262	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:105825262G>A	ENST00000369110.3	-	3	445	c.254_splice	c.e3+1	p.R85_splice		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	27	66	0	88	85					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		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)	CAGTCTCACCGTTTTCCTTTC	0.328000													1	1	1	1	1	1	1.000000	29	68	0	104	1	9.997764e-01	19	17	0	104	5
AIM1	202	broad.mit.edu	37	6	106968877	106968877	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:106968877C>A	ENST00000369066.3	+	2	3057	c.2570C>A	c.(2569-2571)aCt>aAt	p.T857N		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	31	56	0	71	857							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	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)		TCAGTCAACACTATGACCACG	0.443000													1	1	1	1	1	1	1.000000	32	60	0	82	1	5.696227e-01	2	3	0	82	5
RTN4IP1	84816	broad.mit.edu	37	6	107019892	107019892	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:107019892C>A	ENST00000369063.3	-	9	1635	c.1170G>T	c.(1168-1170)aaG>aaT	p.K390N	RTN4IP1_ENST00000539449.1_3'UTR|RTN4IP1_ENST00000498091.1_5'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	21	43	0	61	390						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	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)		TAATTACAGTCTTTCCTCGTG	0.388000													1	1	1	1	1	1	0.999999	21	48	0	62	1	7.410920e-01	4	4	0	62	5
SEC63	11231	broad.mit.edu	37	6	108204347	108204347	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:108204347C>T	ENST00000369002.4	-	17	1857	c.1678G>A	c.(1678-1680)Gct>Act	p.A560T		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	7	20	0	25	560					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		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)		TTTACTGCAGCTTCCTAAAAG	0.358000													1	0	1	1	1	1	0.985191	7	23	0	29	1	9.999613e-01	51	47	0	29	4
PPIL6	285755	broad.mit.edu	37	6	109752502	109752502	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109752502A>C	ENST00000521072.2	-	3	858	c.278T>G	c.(277-279)tTt>tGt	p.F93C	PPIL6_ENST00000440797.2_Missense_Mutation_p.F93C|PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000424445.2_Missense_Mutation_p.F61C	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	22	37	0	49	93					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		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;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		ACCATTAACAAAAGAAATCAC	0.403000													1	1	1	1	1	1	1.000000	23	41	0	54	1	9.983766e-01	16	7	0	54	5
MICAL1	64780	broad.mit.edu	37	6	109766179	109766179	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109766179C>A	ENST00000368952.4	-	23	3248	c.2958G>T	c.(2956-2958)aaG>aaT	p.K986N	MICAL1_ENST00000358807.3_Missense_Mutation_p.K967N|MICAL1_ENST00000358577.3_Missense_Mutation_p.K881N			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	26	87	0	135	967					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		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)		CCCATAGTTTCTTTTGCTGTT	0.542000													1	1	1	1	1	1	1.000000	28	99	0	146	1	9.999818e-01	19	48	0	146	5
ZBTB24	9841	broad.mit.edu	37	6	109788914	109788914	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109788914T>C	ENST00000230122.3	-	6	1479	c.1312A>G	c.(1312-1314)Atc>Gtc	p.I438V		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	7	36	0	42	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		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)		TTGCCACAGATTTCACAAGTA	0.333000													1	1	1	1	1	1	0.983613	7	38	0	50	0	2.750045e-01	1	4	0	50	5
ZBTB24	9841	broad.mit.edu	37	6	109802552	109802552	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109802552A>G	ENST00000230122.3	-	2	845	c.678T>C	c.(676-678)agT>agC	p.S226S		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	67	117	0	207	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		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)		CCTCCTCTCTACTTGGCTCAC	0.453000													1	1	1	1	1	1	1.000000	72	127	0	234	1	8.891650e-01	5	4	0	234	5
ZBTB24	9841	broad.mit.edu	37	6	109802872	109802872	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109802872C>A	ENST00000230122.3	-	2	525	c.358G>T	c.(358-360)Gac>Tac	p.D120Y		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	40	72	0	102	120	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		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)		TTTACCAGGTCATAGACTTTT	0.418000													1	1	1	1	1	1	1.000000	42	74	0	105	1	8.869654e-01	5	4	0	105	5
AK9	221264	broad.mit.edu	37	6	109816601	109816601	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:109816601A>G	ENST00000424296.2	-	39	5434	c.5358T>C	c.(5356-5358)ctT>ctC	p.L1786L	RP5-919F19.5_ENST00000423747.1_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9	15	31	0	62																		TTAATGGGGGAAGCTTGTGTG	0.383000													1	1	1	1	1	1	0.999998	19	34	0	73	0	3.038278e-01	1	2	0	73	5
FIG4	9896	broad.mit.edu	37	6	110062741	110062741	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:110062741C>A	ENST00000230124.3	+	8	994	c.870C>A	c.(868-870)aaC>aaA	p.N290K	FIG4_ENST00000441478.2_Intron|FIG4_ENST00000368941.1_Intron	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	30	44	0	54	290	SAC.				cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		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)		GAGGTGCAAACTGTGAGGTAA	0.383000													1	1	1	1	1	1	1.000000	31	44	0	57	1	9.999971e-01	19	18	0	57	5
WASF1	8936	broad.mit.edu	37	6	110423417	110423417	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:110423417G>T	ENST00000392589.1	-	10	1732	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	WASF1_ENST00000359451.2_Missense_Mutation_p.S299Y|WASF1_ENST00000392588.1_Missense_Mutation_p.S299Y|WASF1_ENST00000392586.1_Missense_Mutation_p.S299Y|WASF1_ENST00000392587.2_Missense_Mutation_p.S299Y	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	36	68	0	110	299					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		ACCTGTAGCAGAACTGAAATG	0.418000													1	1	1	1	1	1	1.000000	41	76	0	120	1	9.999829e-01	10	27	0	120	5
CDK19	23097	broad.mit.edu	37	6	110988687	110988687	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:110988687G>A	ENST00000368911.3	-	4	585	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F	CDK19_ENST00000323817.3_Missense_Mutation_p.L76F	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	20	29	0	72	136	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATACCATCAAGAATCTGGTAA	0.328000													1	1	1	1	1	1	1.000000	22	33	0	79	1	7.591313e-01	3	3	0	79	5
SLC16A10	117247	broad.mit.edu	37	6	111540115	111540115	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111540115C>T	ENST00000368850.3	+	4	729	c.243C>T	c.(241-243)ttC>ttT	p.F81F	SLC16A10_ENST00000368851.5_Silent_p.F395F			Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	39	77	0	91	395					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TGGGTCTCTTCGATGGATGCT	0.468000													1	1	1	1	1	1	1.000000	40	81	0	94	1	7.962618e-01	3	5	0	94	5
REV3L	5980	broad.mit.edu	37	6	111680169	111680169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111680169G>A	ENST00000435970.1	-	19	7510	c.6694C>T	c.(6694-6696)Cga>Tga	p.R2232*	REV3L_ENST00000358835.3_Nonsense_Mutation_p.R2310*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.R2310*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.R2310*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	20	39	0	67	2310					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		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)		TCTAAGTCTCGTCTAGTTCGA	0.373000								DNA polymerases (catalytic subunits)					1	1	1	1	1	1	0.999999	20	43	0	72	0	7.715489e-01	1	7	0	72	5
REV3L	5980	broad.mit.edu	37	6	111693940	111693940	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111693940C>T	ENST00000435970.1	-	15	6200	c.5384G>A	c.(5383-5385)cGa>cAa	p.R1795Q	REV3L_ENST00000358835.3_Missense_Mutation_p.R1873Q|REV3L_ENST00000368805.1_Missense_Mutation_p.R1873Q|REV3L_ENST00000368802.3_Missense_Mutation_p.R1873Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	55	131	1	193	1873					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.R1795Q(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		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)		GTTAGCAGTTCGAGGGGTGAA	0.413000								DNA polymerases (catalytic subunits)					1	0	1	1	1	1	1.000000	58	142	1	211	1	4.545650e-01	3	2	1	211	4
FYN	2534	broad.mit.edu	37	6	111983095	111983095	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:111983095G>A	ENST00000354650.3	-	14	2067	c.1461C>T	c.(1459-1461)tgC>tgT	p.C487C	FYN_ENST00000368678.4_Silent_p.C484C|FYN_ENST00000368667.2_Silent_p.C487C|FYN_ENST00000356013.2_Silent_p.C432C|FYN_ENST00000229471.4_Silent_p.C432C|FYN_ENST00000368682.3_Silent_p.C484C|FYN_ENST00000229470.5_Silent_p.C435C|FYN_ENST00000538466.1_Silent_p.C484C	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	43	86	0	193	487	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			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		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)	AGTCCTGCGGGCAGGGCATCC	0.597000													1	1	1	1	1	1	1.000000	45	93	0	212	1	1	65	73	0	212	5
FYN	2534	broad.mit.edu	37	6	112020831	112020831	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:112020831G>A	ENST00000368682.3	-	9	961	c.740C>T	c.(739-741)tCg>tTg	p.S247L	FYN_ENST00000368678.4_Missense_Mutation_p.S247L|FYN_ENST00000368667.2_Intron|FYN_ENST00000356013.2_Intron|FYN_ENST00000354650.3_Intron|FYN_ENST00000229471.4_Intron|FYN_ENST00000476769.2_Intron|FYN_ENST00000229470.5_Missense_Mutation_p.S198L|FYN_ENST00000538466.1_Missense_Mutation_p.S247L			P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	21	51	0	100	247					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			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		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)	GGTACAACTCGATGCAATCAC	0.418000													1	1	1	1	1	1	1.000000	22	56	0	109	0	9.999999e-01	0	17	0	109	5
LAMA4	3910	broad.mit.edu	37	6	112476055	112476055	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:112476055G>T	ENST00000230538.7	-	16	2451	c.2054C>A	c.(2053-2055)tCt>tAt	p.S685Y	LAMA4_ENST00000522006.1_Missense_Mutation_p.S678Y|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.S678Y|LAMA4_ENST00000389463.4_Missense_Mutation_p.S678Y|RP1-142L7.5_ENST00000585373.1_RNA|RP1-142L7.5_ENST00000588689.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	17	38	0	74	685	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			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		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)		ATATTTACTAGACTCTGCCTT	0.383000													1	1	1	1	1	1	0.999995	18	44	0	78	0	8.259665e-01	1	9	0	78	5
RFPL4B	442247	broad.mit.edu	37	6	112671559	112671559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:112671559G>T	ENST00000441065.2	+	3	961	c.649G>T	c.(649-651)Gaa>Taa	p.E217*		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	25	33	0	64	217	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		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)		TGACTTAGAAGAAATCCAGTT	0.448000													1	1	1	1	1	1	1.000000	28	35	0	68	0	0	0	0	0	68	5
HDAC2	3066	broad.mit.edu	37	6	114264533	114264533	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:114264533T>C	ENST00000519065.1	-	12	1736	c.1360A>G	c.(1360-1362)Aca>Gca	p.T454A	HDAC2_ENST00000398283.2_Missense_Mutation_p.T548A|HDAC2_ENST00000368632.2_Missense_Mutation_p.T424A|HDAC2_ENST00000519108.1_Missense_Mutation_p.T424A			Q92769	HDAC2_HUMAN	histone deacetylase 2	3	36	0	47	454					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			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		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)	ttgtcctctgtttctttctta	0.333000													0	0	1	0	0	1	0.812658	3	36	0	47	1	9.999575e-01	76	591	0	47	1
DSE	29940	broad.mit.edu	37	6	116758182	116758182	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:116758182G>T	ENST00000331677.3	+	7	2995	c.2551G>T	c.(2551-2553)Gat>Tat	p.D851Y	DSE_ENST00000359564.2_Missense_Mutation_p.D851Y|DSE_ENST00000537543.1_Missense_Mutation_p.D870Y|DSE_ENST00000452085.3_Missense_Mutation_p.D851Y			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	18	40	0	82	851					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		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)		ACTACCCATAGATGAAGATGA	0.383000													1	1	1	1	1	1	0.999995	18	42	0	84	1	9.964869e-01	2	24	0	84	5
RSPH4A	345895	broad.mit.edu	37	6	116949485	116949485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:116949485G>T	ENST00000229554.5	+	3	1752	c.1615G>T	c.(1615-1617)Gaa>Taa	p.E539*	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.E539*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	28	69	0	102	539	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGATCTAGTAGAATCCCTATC	0.423000									Kartagener syndrome				1	1	1	1	1	1	1.000000	32	78	0	116	0	3.397374e-01	0	4	0	116	5
ROS1	6098	broad.mit.edu	37	6	117609891	117609891	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:117609891C>A	ENST00000368508.3	-	43	7006	c.6808G>T	c.(6808-6810)Gaa>Taa	p.E2270*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.E2264*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	20	27	0	44	2270					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.E2270K(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		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)		TTTAACCCTTCTCGGTTCTTC	0.408000			T	GOPC, SDC4, SLC34A2, EZR, LRIG3	glioblastoma, NSCLC								1	1	1	1	1	1	0.999999	20	29	0	46	0	0	0	1	0	46	5
ROS1	6098	broad.mit.edu	37	6	117715350	117715350	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:117715350C>A	ENST00000368508.3	-	10	1337	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	ROS1_ENST00000368507.3_Missense_Mutation_p.R389I|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	5	12	0	27	380					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R380I(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		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)		GAAATACATTCTTTGATAAAG	0.353000			T	GOPC, SDC4, SLC34A2, EZR, LRIG3	glioblastoma, NSCLC								1	0	1	1	1	1	0.947670	5	13	0	29	0	0	0	0	0	29	4
SLC35F1	222553	broad.mit.edu	37	6	118228913	118228913	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:118228913G>A	ENST00000360388.4	+	1	225	c.24G>A	c.(22-24)caG>caA	p.Q8Q		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	12	11	0	30	8					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		AGCAGCCGCAGCAGCAGCTGC	0.741000													1	1	1	1	0	1	0.999826	12	11	0	33	0	0	0	0	0	33	4
SLC35F1	222553	broad.mit.edu	37	6	118475689	118475689	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:118475689A>G	ENST00000360388.4	+	2	456	c.255A>G	c.(253-255)tcA>tcG	p.S85S		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	9	141	0	165	85					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		AGTATCTGTCAGAAGATTTCC	0.443000													1	1	1	1	0	1	0.994626	9	155	0	178	0	0	0	0	0	178	4
SLC35F1	222553	broad.mit.edu	37	6	118556698	118556698	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:118556698C>T	ENST00000360388.4	+	3	577	c.376C>T	c.(376-378)Cga>Tga	p.R126*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	9	30	0	47	126					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GGCAATTTTACGACGAAGATG	0.378000													1	1	1	1	0	1	0.997974	10	34	0	59	0	0	0	0	0	59	4
ASF1A	25842	broad.mit.edu	37	6	119226904	119226904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:119226904G>T	ENST00000229595.5	+	3	507	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	33	50	0	108	105	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			endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		TCGAGGACAAGAATTTATTAG	0.358000													1	1	1	1	1	1	1.000000	33	54	0	110	1	1	13	38	0	110	5
FAM184A	79632	broad.mit.edu	37	6	119301348	119301348	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:119301348G>A	ENST00000338891.7	-	10	2699	c.2256C>T	c.(2254-2256)gtC>gtT	p.V752V	FAM184A_ENST00000352896.5_Silent_p.V632V|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Silent_p.V752V|FAM184A_ENST00000368475.4_Silent_p.V632V	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	15	40	0	43	752										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GAAATGCAAGGACATGTGCTT	0.388000													1	1	1	1	1	1	0.999994	18	46	0	46	0	8.593397e-02	0	2	0	46	5
TBC1D32	221322	broad.mit.edu	37	6	121577399	121577399	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:121577399G>A	ENST00000275159.6	-	16	1765	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	TBC1D32_ENST00000398212.2_Missense_Mutation_p.S589L					TBC1 domain family, member 32	11	16	0	24																		AAGTTTTTTCGAAAACTGGGC	0.338000													1	1	1	1	1	1	0.999890	13	16	0	24	0	0	1	0	0	24	5
GJA1	2697	broad.mit.edu	37	6	121768608	121768608	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:121768608G>T	ENST00000282561.3	+	2	772	c.615G>T	c.(613-615)gaG>gaT	p.E205D		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	32	65	0	137	205					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			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GCCCCACGGAGAAAACCATCT	0.473000													1	1	1	1	1	1	1.000000	34	66	0	153	0	9.980935e-01	0	23	0	153	5
SERINC1	57515	broad.mit.edu	37	6	122774932	122774932	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:122774932G>A	ENST00000368454.1	-	7	901	c.572C>T	c.(571-573)tCg>tTg	p.S191L	SERINC1_ENST00000339697.3_Missense_Mutation_p.S191L			Q9NRX5	SERC1_HUMAN	serine incorporator 1	9	54	0	48	191					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		CCAACATCTCGAGTTCCCTTC	0.388000													1	1	1	1	1	1	0.998786	11	60	0	56	1	9.999576e-01	30	88	0	56	5
NCOA7	135112	broad.mit.edu	37	6	126242114	126242114	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:126242114G>A	ENST00000368357.3	+	13	2622	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H	NCOA7_ENST00000229634.9_Missense_Mutation_p.R642H|NCOA7_ENST00000392477.2_Missense_Mutation_p.R757H	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	28	48	0	72	757					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GAGGCAAAGCGCAGGAAGAGC	0.453000													1	1	1	1	1	1	1.000000	29	55	0	78	1	9.999978e-01	23	25	0	78	5
TRMT11	60487	broad.mit.edu	37	6	126314910	126314910	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:126314910A>G	ENST00000334379.5	+	2	201	c.80A>G	c.(79-81)aAg>aGg	p.K27R	TRMT11_ENST00000450358.1_Missense_Mutation_p.K27R|TRMT11_ENST00000368332.3_Missense_Mutation_p.K27R|TRMT11_ENST00000489934.1_Intron	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	14	17	0	26	27					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CAGGAAATAAAGTCTTTGCTT	0.299000													1	1	1	1	1	1	0.999996	17	19	0	28	1	9.998512e-01	10	14	0	28	5
RNF146	81847	broad.mit.edu	37	6	127608732	127608732	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:127608732G>A	ENST00000368314.1	+	3	1398	c.974G>A	c.(973-975)cGa>cAa	p.R325Q	RNF146_ENST00000356799.2_Missense_Mutation_p.R324Q|RNF146_ENST00000309649.3_Missense_Mutation_p.R324Q	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	19	47	0	78	325					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GTACCCGATCGATCAGATCGA	0.488000													1	1	1	1	1	1	1.000000	22	52	0	82	1	9.998225e-01	19	20	0	82	5
THEMIS	387357	broad.mit.edu	37	6	128134152	128134152	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:128134152C>A	ENST00000368250.1	-	5	1895	c.1397G>T	c.(1396-1398)aGa>aTa	p.R466I	THEMIS_ENST00000537166.1_Missense_Mutation_p.R510I|THEMIS_ENST00000543064.1_Missense_Mutation_p.R545I|THEMIS_ENST00000368248.2_Missense_Mutation_p.R545I			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	38	57	0	87	545	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTTTCATATCTCCGCATCAT	0.458000													1	1	1	1	1	1	1.000000	39	61	0	90	0	1.561013e-01	0	2	0	90	5
LAMA2	3908	broad.mit.edu	37	6	129637245	129637245	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:129637245C>A	ENST00000421865.2	+	27	4036	c.3987C>A	c.(3985-3987)ttC>ttA	p.F1329L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	19	41	0	50	1329	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			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGAAGACTTCTTGGATATAC	0.338000													1	1	1	1	1	1	0.999999	20	44	0	50	0	0	0	1	0	50	5
L3MBTL3	84456	broad.mit.edu	37	6	130413911	130413911	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:130413911A>G	ENST00000529410.1	+	19	2019	c.1540A>G	c.(1540-1542)Aat>Gat	p.N514D	L3MBTL3_ENST00000368139.2_Missense_Mutation_p.N489D|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.N514D|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.N514D|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.N489D|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.N489D			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	13	32	0	68	514					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGGCTGGAACAATTGCTATGA	0.423000													1	0	1	1	0	1	0.999785	13	34	0	74	1	8.706415e-01	8	4	0	74	3
EPB41L2	2037	broad.mit.edu	37	6	131201347	131201347	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:131201347C>A	ENST00000337057.3	-	13	2015		c.e13-1		EPB41L2_ENST00000530757.1_Splice_Site|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000531410.1_Splice_Site|EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000524581.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000368128.2_Splice_Site|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000392427.3_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	8	10	0	29						cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AGGAATTTTTCTGTGAAATTA	0.358000													1	0	1	1	1	1	0.994961	8	10	0	30	0	9.990320e-01	0	25	0	30	4
ARG1	383	broad.mit.edu	37	6	131904520	131904520	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:131904520T>G	ENST00000368087.3	+	7	830	c.691T>G	c.(691-693)Ttt>Gtt	p.F231V	MED23_ENST00000354577.4_Intron|ARG1_ENST00000476845.1_Intron|ARG1_ENST00000356962.2_Missense_Mutation_p.F239V			P05089	ARGI1_HUMAN	arginase 1	32	67	0	101	231					arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TCATCTAAGTTTTGATGTTGA	0.403000													1	1	1	1	1	1	1.000000	38	71	0	112	0	0	0	0	0	112	5
ENPP3	5169	broad.mit.edu	37	6	132006568	132006568	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:132006568C>A	ENST00000414305.1	+	14	1513	c.1185C>A	c.(1183-1185)ttC>ttA	p.F395L	ENPP3_ENST00000357639.3_Missense_Mutation_p.F395L|ENPP3_ENST00000358229.5_Missense_Mutation_p.F395L			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	45	95	0	151	395	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			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GAATAAACTTCTTCTACATGT	0.363000													1	1	1	1	1	1	1.000000	51	100	0	169	0	0	0	0	0	169	5
CTAGE9	643854	broad.mit.edu	37	6	132030936	132030936	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:132030936A>C	ENST00000314099.8	-	1	1270	c.1222T>G	c.(1222-1224)Tac>Gac	p.Y408D	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	15	30	0	80	408						integral to membrane				endometrium(1)|lung(1)	2						TCTATTCGGTAATTTTCCTCC	0.368000													1	0	1	1	0	1	0.999957	15	32	0	49	0	0	0	0	0	49	3
SGK1	6446	broad.mit.edu	37	6	134638579	134638579	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:134638579T>C	ENST00000367858.5	-	1	617	c.20A>G	c.(19-21)aAt>aGt	p.N7S	SGK1_ENST00000524929.1_Missense_Mutation_p.N7S	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	45	108	0	137	0	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGGGAATCCATTCATGTCTTT	0.423000													1	1	1	1	1	1	1.000000	48	120	0	153	0	0	0	0	0	153	5
ALDH8A1	64577	broad.mit.edu	37	6	135271107	135271107	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:135271107C>T	ENST00000265605.2	-	1	153	c.85G>A	c.(85-87)Gac>Aac	p.D29N	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.D29N|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.D29N	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	18	40	0	88	29					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GTTGATGGGTCGTAAGAATCT	0.373000													1	1	1	1	1	1	1.000000	21	42	0	93	0	0	0	0	0	93	5
BCLAF1	9774	broad.mit.edu	37	6	136590607	136590607	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136590607A>C	ENST00000531224.1	-	9	2439	c.2187T>G	c.(2185-2187)gaT>gaG	p.D729E	BCLAF1_ENST00000353331.4_Missense_Mutation_p.D727E|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D727E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D727E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D729E|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D556E	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	4	69	0	47	729					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATTCCTTGTAATCTTTTGGAG	0.363000													0	0	1	0	0	1	0.939430	5	82	0	52	1	2.212939e-01	4	9	0	52	1
BCLAF1	9774	broad.mit.edu	37	6	136597112	136597112	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136597112C>A	ENST00000531224.1	-	5	1803	c.1551G>T	c.(1549-1551)aaG>aaT	p.K517N	BCLAF1_ENST00000353331.4_Missense_Mutation_p.K515N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.K515N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.K515N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.K517N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.K344N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	12	153	0	148	517					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CATCCAGATTCTTGTGTAGAG	0.413000													1	1	1	1	0	1	0.999792	14	169	0	163	0	9.814742e-01	0	83	0	163	4
BCLAF1	9774	broad.mit.edu	37	6	136597398	136597398	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136597398C>T	ENST00000531224.1	-	5	1517	c.1265G>A	c.(1264-1266)aGt>aAt	p.S422N	BCLAF1_ENST00000353331.4_Missense_Mutation_p.S420N|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S420N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S420N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S422N|BCLAF1_ENST00000530767.1_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	40	207	0	234	422					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGTAGCAAAACTTTTACCCTG	0.418000													1	1	1	1	0	1	1.000000	41	221	0	256	0	9.986288e-01	0	57	0	256	4
BCLAF1	9774	broad.mit.edu	37	6	136599082	136599082	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136599082C>A	ENST00000531224.1	-	4	1189	c.937G>T	c.(937-939)Gat>Tat	p.D313Y	BCLAF1_ENST00000353331.4_Missense_Mutation_p.D311Y|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D311Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D311Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D313Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D313Y	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	10	66	0	75	313					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTAGACTCATCTCTTGGAGCA	0.428000													1	1	1	1	1	1	0.997434	10	79	0	86	1	8.313558e-01	13	15	0	86	5
MAP7	9053	broad.mit.edu	37	6	136667149	136667149	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136667149A>C	ENST00000354570.3	-	17	2494	c.2084T>G	c.(2083-2085)aTt>aGt	p.I695S	MAP7_ENST00000438100.2_Missense_Mutation_p.I680S|MAP7_ENST00000454590.1_Missense_Mutation_p.I717S|MAP7_ENST00000432797.2_Missense_Mutation_p.I549S|MAP7_ENST00000544465.1_Missense_Mutation_p.I680S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	13	20	0	34	695					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			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TAAGTTTATAATTTCTTCAAA	0.323000													1	1	1	1	1	1	0.999830	13	25	0	37	1	9.999994e-01	37	38	0	37	5
MAP7	9053	broad.mit.edu	37	6	136742892	136742892	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:136742892C>T	ENST00000354570.3	-	2	523	c.113G>A	c.(112-114)cGc>cAc	p.R38H	MAP7_ENST00000438100.2_Missense_Mutation_p.R60H|MAP7_ENST00000454590.1_Missense_Mutation_p.R60H|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Missense_Mutation_p.R23H	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	21	40	0	67	38					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			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGAGGCAGGGCGGCTGGAGGC	0.373000													1	1	1	1	1	1	1.000000	24	47	0	77	1	9.988880e-01	15	10	0	77	5
KIAA1244	57221	broad.mit.edu	37	6	138559762	138559762	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:138559762G>T	ENST00000251691.4	+	6	703	c.537G>T	c.(535-537)gaG>gaT	p.E179D		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	46	80	0	144	179					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGAGGCAGGAGAATACGGTGA	0.557000													1	1	1	1	1	1	1.000000	49	87	0	164	1	1.329371e-01	2	0	0	164	5
ECT2L	345930	broad.mit.edu	37	6	139159530	139159530	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:139159530A>G	ENST00000423192.1	+	4	382	c.221A>G	c.(220-222)aAa>aGa	p.K74R	ECT2L_ENST00000541398.1_Missense_Mutation_p.K5R|ECT2L_ENST00000367682.2_Missense_Mutation_p.K74R			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	18	23	0	55	74					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CAAGTGGCCAAAGTGGACTTC	0.388000			N, Splice, Mis		ETP ALL								1	1	1	1	1	1	0.999999	19	23	0	60	0	0	0	0	0	60	5
TXLNB	167838	broad.mit.edu	37	6	139581502	139581502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:139581502C>A	ENST00000358430.3	-	6	1187	c.955G>T	c.(955-957)Gaa>Taa	p.E319*		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	12	25	0	30	319						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTCATCATTTCTTGGGCCTGC	0.408000													1	1	1	1	1	1	0.999819	13	27	0	33	0	0	0	0	0	33	5
HIVEP2	3097	broad.mit.edu	37	6	143081489	143081489	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:143081489C>T	ENST00000367603.2	-	9	6678	c.5936G>A	c.(5935-5937)cGa>cAa	p.R1979Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R1979Q|HIVEP2_ENST00000367604.1_Missense_Mutation_p.R1979Q	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	42	90	0	143	1979					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1979L(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGAGTAACTCGAATACTTGG	0.473000													1	1	1	1	1	1	1.000000	42	92	0	145	1	9.989453e-01	9	17	0	145	5
GRM1	2911	broad.mit.edu	37	6	146708098	146708098	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:146708098G>T	ENST00000392299.2	+	7	2145	c.1675G>T	c.(1675-1677)Gag>Tag	p.E559*	GRM1_ENST00000507907.1_Nonsense_Mutation_p.E559*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.E559*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.E559*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.E559*|GRM1_ENST00000282753.1_Nonsense_Mutation_p.E559*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	49	90	0	142	559					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGTGCAAGATGAGTTCACCTG	0.438000													1	1	1	1	1	1	1.000000	54	95	0	154	0	0	0	0	0	154	5
GRM1	2911	broad.mit.edu	37	6	146755216	146755216	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:146755216G>A	ENST00000361719.2	+	9	3339	c.2869G>A	c.(2869-2871)Gta>Ata	p.V957I	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.V957I	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	15	138	0	159	957					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCTTTACAACGTAGAGGAGGA	0.587000													1	1	1	1	1	1	0.999899	15	143	0	175	0	0	0	0	0	175	5
STXBP5	0	broad.mit.edu	37	6	147635409	147635409	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:147635409A>G	ENST00000367481.3	+	13	1411	c.1303A>G	c.(1303-1305)Atc>Gtc	p.I435V	STXBP5_ENST00000367480.3_Missense_Mutation_p.I435V|STXBP5_ENST00000321680.6_Missense_Mutation_p.I435V|STXBP5_ENST00000179882.6_Missense_Mutation_p.I106V	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	33	71	0	131	435					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GGAATGGCCCATCAACGGAGG	0.388000													1	1	1	1	1	1	1.000000	39	82	0	154	1	8.356914e-01	4	5	0	154	5
LATS1	9113	broad.mit.edu	37	6	149982885	149982885	+	Missense_Mutation	SNP	G	G	A	rs139248642		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:149982885G>A	ENST00000543571.1	-	8	3920	c.3373C>T	c.(3373-3375)Cgc>Tgc	p.R1125C	LATS1_ENST00000253339.5_Missense_Mutation_p.R1125C	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	30	50	0	63	1125					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			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ACTAGATCGCGATTTTTAATC	0.353000													1	1	1	1	1	1	1.000000	31	55	0	65	0	7.783668e-01	1	6	0	65	5
LATS1	9113	broad.mit.edu	37	6	150001229	150001229	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:150001229C>A	ENST00000543571.1	-	5	2922	c.2375G>T	c.(2374-2376)aGc>aTc	p.S792I	LATS1_ENST00000253339.5_Missense_Mutation_p.S792I|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	12	77	0	87	792	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			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AATTAATAGGCTCATCATATC	0.368000													1	1	1	1	1	1	0.999334	12	80	0	93	1	1.998649e-01	3	3	0	93	5
LATS1	9113	broad.mit.edu	37	6	150001373	150001373	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:150001373C>T	ENST00000543571.1	-	5	2778	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	LATS1_ENST00000253339.5_Missense_Mutation_p.R744Q|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	42	67	0	109	744	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	p.R744Q(2)|p.R744L(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GACTTGATTTCGAAGAAGAAC	0.383000													1	1	1	1	1	1	1.000000	44	70	0	112	0	6.377465e-01	1	4	0	112	5
PLEKHG1	57480	broad.mit.edu	37	6	151153217	151153217	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151153217G>A	ENST00000367328.1	+	16	3282	c.2970G>A	c.(2968-2970)gcG>gcA	p.A990A	PLEKHG1_ENST00000358517.2_Silent_p.A990A	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	107	135	0	233	990					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTAAGAAGGCGAATCAACTTT	0.498000													1	1	1	1	1	1	1.000000	115	142	0	244	1	9.324071e-01	4	4	0	244	5
AKAP12	9590	broad.mit.edu	37	6	151671102	151671102	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151671102A>C	ENST00000402676.2	+	4	1816	c.1576A>C	c.(1576-1578)Aaa>Caa	p.K526Q	AKAP12_ENST00000359755.5_Missense_Mutation_p.K421Q|AKAP12_ENST00000253332.1_Missense_Mutation_p.K526Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.K428Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	49	70	0	155	526	Involved in PKC-binding (Probable).				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			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CACTGGCTTAAAAAAGCTTTC	0.507000													1	1	1	1	1	1	1.000000	50	73	0	165	1	9.999462e-01	22	5	0	165	5
AKAP12	9590	broad.mit.edu	37	6	151671492	151671492	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151671492G>T	ENST00000402676.2	+	4	2206	c.1966G>T	c.(1966-1968)Gaa>Taa	p.E656*	AKAP12_ENST00000359755.5_Nonsense_Mutation_p.E551*|AKAP12_ENST00000253332.1_Nonsense_Mutation_p.E656*|AKAP12_ENST00000354675.6_Nonsense_Mutation_p.E558*	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	20	48	0	61	656					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			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AATGCAAGAAGAAATGAAAGG	0.483000													1	1	1	1	1	1	0.999999	21	53	0	64	1	9.954611e-01	5	21	0	64	5
C6orf211	79624	broad.mit.edu	37	6	151789606	151789606	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:151789606T>G	ENST00000367294.3	+	5	946	c.687T>G	c.(685-687)ctT>ctG	p.L229L	C6orf211_ENST00000545879.1_Silent_p.L110L	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	20	36	0	54	229							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TGGAACATCTTTGGTCATTGC	0.343000													1	1	1	1	1	1	0.999999	20	37	0	55	1	1	50	34	0	55	5
SYNE1	23345	broad.mit.edu	37	6	152476036	152476036	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:152476036C>A	ENST00000367255.5	-	133	24721	c.24120G>T	c.(24118-24120)aaG>aaT	p.K8040N	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.K7969N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K7969N|SYNE1_ENST00000354674.4_Missense_Mutation_p.K195N|SYNE1_ENST00000356820.4_Missense_Mutation_p.K2564N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K7652N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K8040N|SYNE1_ENST00000539504.1_Missense_Mutation_p.K195N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	47	70	0	88	8040					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			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTCAAATTTCTTTAGTTCTT	0.383000										HNSCC(10;0.0054)			1	1	1	1	1	1	1.000000	49	74	0	93	1	9.224326e-01	2	7	0	93	5
SYNE1	23345	broad.mit.edu	37	6	152673366	152673366	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:152673366A>G	ENST00000367255.5	-	70	11977	c.11376T>C	c.(11374-11376)gaT>gaC	p.D3792D	SYNE1_ENST00000448038.1_Silent_p.D3777D|SYNE1_ENST00000423061.1_Silent_p.D3777D|SYNE1_ENST00000341594.5_Silent_p.D3763D|SYNE1_ENST00000265368.4_Silent_p.D3792D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	31	62	0	129	3792					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			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCCATGTGATCATGAATCT	0.458000										HNSCC(10;0.0054)			1	1	1	1	1	1	1.000000	33	68	0	145	0	0	0	1	0	145	5
SYNE1	23345	broad.mit.edu	37	6	152674558	152674558	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:152674558T>G	ENST00000367255.5	-	69	11694	c.11093A>C	c.(11092-11094)aAa>aCa	p.K3698T	SYNE1_ENST00000448038.1_Missense_Mutation_p.K3683T|SYNE1_ENST00000423061.1_Missense_Mutation_p.K3683T|SYNE1_ENST00000341594.5_Missense_Mutation_p.K3669T|SYNE1_ENST00000265368.4_Missense_Mutation_p.K3698T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	12	36	0	57	3698					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			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCAGGAATTTTATTTGTTC	0.388000										HNSCC(10;0.0054)			1	1	1	1	1	1	0.999518	12	37	0	59	0	0	0	0	0	59	5
SYNE1	23345	broad.mit.edu	37	6	152774635	152774635	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:152774635A>G	ENST00000495090.2	-	12	1822	c.1814T>C	c.(1813-1815)tTa>tCa	p.L605S	SYNE1_ENST00000367255.5_Intron|SYNE1_ENST00000367248.3_Intron|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000413186.2_Intron|SYNE1_ENST00000265368.4_Intron|SYNE1_ENST00000367253.4_Intron			Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	29	45	0	82	7274					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			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGAATTTCTAAATTTCTCTT	0.368000										HNSCC(10;0.0054)			1	0	1	1	1	1	1.000000	31	46	0	87	0	0	0	0	0	87	4
MYCT1	80177	broad.mit.edu	37	6	153019160	153019160	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:153019160T>G	ENST00000367245.5	+	1	131	c.123T>G	c.(121-123)ttT>ttG	p.F41L	MYCT1_ENST00000529453.1_Missense_Mutation_p.F41L	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	5	12	0	16	41						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TTCTTCTCTTTCTTCTATTTC	0.318000													1	0	1	1	1	1	0.947670	5	13	0	17	0	1.000000e-01	0	2	0	17	4
VIP	7432	broad.mit.edu	37	6	153076473	153076473	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:153076473A>C	ENST00000367244.3	+	4	472	c.300A>C	c.(298-300)aaA>aaC	p.K100N	VIP_ENST00000367243.3_Missense_Mutation_p.K100N	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	10	21	0	39	100					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		TTTCTGCCAAAAAGTACCTTG	0.308000													1	1	1	1	1	1	0.999842	13	23	0	44	0	0	0	0	0	44	5
IPCEF1	26034	broad.mit.edu	37	6	154481002	154481002	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:154481002C>A	ENST00000265198.4	-	12	1430	c.1275G>T	c.(1273-1275)aaG>aaT	p.K425N	IPCEF1_ENST00000519344.1_Missense_Mutation_p.K397N|IPCEF1_ENST00000367220.4_Missense_Mutation_p.K426N|IPCEF1_ENST00000422970.2_Missense_Mutation_p.K426N|OPRM1_ENST00000337049.4_Intron	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1	6	32	0	43											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						AAGGTGATTTCTTGAGTTCCT	0.463000													1	0	1	1	1	1	0.968864	6	36	0	49	0	0	0	1	0	49	4
TIAM2	26230	broad.mit.edu	37	6	155458506	155458506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155458506C>T	ENST00000461783.3	+	7	2663	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Nonsense_Mutation_p.R464*|TIAM2_ENST00000529824.2_Nonsense_Mutation_p.R464*|TIAM2_ENST00000456144.1_Nonsense_Mutation_p.R464*|TIAM2_ENST00000318981.5_Nonsense_Mutation_p.R464*			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	31	207	0	198	464					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			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAATTTCATGCGAGAGTTGGA	0.512000													1	1	1	1	1	1	1.000000	33	213	0	209	0	1.927063e-02	0	2	0	209	5
TIAM2	26230	broad.mit.edu	37	6	155569225	155569225	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155569225G>A	ENST00000461783.3	+	22	5017	c.3744G>A	c.(3742-3744)ccG>ccA	p.P1248P	TIAM2_ENST00000367174.2_Silent_p.P624P|TIAM2_ENST00000456877.2_Silent_p.P560P|TIAM2_ENST00000275246.7_Silent_p.P173P|TIAM2_ENST00000360366.4_Silent_p.P1272P|TIAM2_ENST00000529824.2_Silent_p.P1248P|TIAM2_ENST00000456144.1_Silent_p.P1248P|TIAM2_ENST00000318981.5_Silent_p.P1248P|TIAM2_ENST00000528391.2_Silent_p.P584P			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	18	49	0	82	1248	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			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCATCAAGCCGGTTCAGAGAG	0.592000											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999997	19	55	0	87	1	1.748252e-01	2	1	0	87	5
TIAM2	26230	broad.mit.edu	37	6	155578064	155578064	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155578064G>T	ENST00000461783.3	+	29	6188	c.4915G>T	c.(4915-4917)Gcc>Tcc	p.A1639S	TIAM2_ENST00000367174.2_Missense_Mutation_p.A1015S|TIAM2_ENST00000456877.2_Missense_Mutation_p.A951S|TIAM2_ENST00000275246.7_Missense_Mutation_p.A564S|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1663S|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1668S|TIAM2_ENST00000456144.1_Missense_Mutation_p.A1668S|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1639S|TIAM2_ENST00000528391.2_Missense_Mutation_p.A983S			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	5	56	0	54	1639				A -> T (in Ref. 7; BAC86170).	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			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TAAACGAAAAGCCAACAGCAC	0.572000													1	0	1	1	0	1	0.940188	5	58	0	56	1	3.363783e-01	3	10	0	56	3
CLDN20	49861	broad.mit.edu	37	6	155597436	155597436	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155597436G>A	ENST00000367165.3	+	2	963	c.583G>A	c.(583-585)Gac>Aac	p.D195N	TFB1M_ENST00000367166.4_Intron	NM_001001346.3	NP_001001346.1	P56880	CLD20_HUMAN	claudin 20	18	39	0	65	195					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(2)	3				OV - Ovarian serous cystadenocarcinoma(155;7.82e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0114)		AGCTAGACTCGACCCACCCAC	0.408000													1	1	1	1	1	1	0.999998	19	42	0	73	0	9.998196e-01	0	2	0	73	5
NOX3	50508	broad.mit.edu	37	6	155743877	155743877	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:155743877G>T	ENST00000159060.2	-	10	1361	c.1259C>A	c.(1258-1260)tCt>tAt	p.S420Y		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	42	69	0	150	420							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GTACCATATAGATTTCAGAAG	0.498000													1	1	1	1	1	1	1.000000	47	72	0	165	0	0	0	0	0	165	5
ARID1B	57492	broad.mit.edu	37	6	157528886	157528886	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:157528886C>T	ENST00000346085.5	+	20	6612	c.6611C>T	c.(6610-6612)gCc>gTc	p.A2204V	ARID1B_ENST00000367148.1_Missense_Mutation_p.A2244V|ARID1B_ENST00000275248.4_Missense_Mutation_p.A2186V|ARID1B_ENST00000350026.5_Missense_Mutation_p.A2191V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	43	80	0	170	2191					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCTTTGCTAGCCATGGCCAGA	0.572000													1	1	1	1	1	1	1.000000	46	88	0	189	1	1	28	45	0	189	5
FNDC1	84624	broad.mit.edu	37	6	159687252	159687252	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:159687252A>C	ENST00000297267.9	+	21	5621	c.5421A>C	c.(5419-5421)aaA>aaC	p.K1807N	FNDC1_ENST00000340366.6_Missense_Mutation_p.K1744N	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	34	66	0	106	1807						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		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)		TGAGGTATAAAATCTACCTCA	0.443000													1	1	1	1	1	1	1.000000	38	73	0	119	0	4.280957e-01	0	4	0	119	5
WTAP	9589	broad.mit.edu	37	6	160176595	160176595	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160176595T>G	ENST00000358372.4	+	8	2900	c.1143T>G	c.(1141-1143)gtT>gtG	p.V381V	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	13	78	0	98	381					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CCCGCCACGTTCAGAATGGCT	0.418000													1	1	1	1	1	1	0.999979	17	91	0	104	1	9.999250e-01	32	61	0	104	5
TCP1	6950	broad.mit.edu	37	6	160201557	160201557	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160201557T>C	ENST00000321394.7	-	9	1295	c.1015A>G	c.(1015-1017)Act>Gct	p.T339A	TCP1_ENST00000392168.2_Missense_Mutation_p.T184A|TCP1_ENST00000420894.2_Missense_Mutation_p.T339A|TCP1_ENST00000544255.1_Missense_Mutation_p.T115A	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	39	70	0	62	339					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		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)		GCTTCAAAAGTTTCTTCACCT	0.373000													1	1	1	1	1	1	1.000000	43	76	0	68	1	1	280	352	0	68	5
PNLDC1	154197	broad.mit.edu	37	6	160240086	160240086	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160240086C>T	ENST00000275275.5	+	17	1504	c.1333C>T	c.(1333-1335)Ctc>Ttc	p.L445F	PNLDC1_ENST00000392167.3_Missense_Mutation_p.L456F	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	31	52	0	83	445						integral to membrane|nucleus	nucleic acid binding	p.L445I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GTTTCAGAATCTCTGCAAGTT	0.517000													1	1	1	1	1	1	1.000000	36	56	0	89	0	0	0	0	0	89	5
SLC22A3	6581	broad.mit.edu	37	6	160831867	160831867	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:160831867A>C	ENST00000392145.1	+	5	991	c.964A>C	c.(964-966)Aat>Cat	p.N322H	SLC22A3_ENST00000275300.2_Missense_Mutation_p.N322H			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	10	15	0	21	322						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		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)		CCTCTCATCAAATTACTCAGA	0.383000													1	1	1	1	1	1	0.999439	11	15	0	23	1	3.970443e-01	2	1	0	23	5
LPA	4018	broad.mit.edu	37	6	161027561	161027561	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:161027561G>A	ENST00000447678.1	-	18	2853	c.2733C>T	c.(2731-2733)gtC>gtT	p.V911V	LPA_ENST00000316300.5_Silent_p.V911V	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	53	98	0	138	3419	Kringle 8.				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			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		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)	TTGGAGGCGCGACGGCAGTCC	0.542000													1	1	1	1	1	1	1.000000	56	104	0	144	0	0	0	0	0	144	5
MAP3K4	4216	broad.mit.edu	37	6	161470911	161470911	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:161470911A>C	ENST00000392142.4	+	3	1755	c.1607A>C	c.(1606-1608)cAg>cCg	p.Q536P	MAP3K4_ENST00000366919.2_Missense_Mutation_p.Q536P|MAP3K4_ENST00000366920.2_Missense_Mutation_p.Q536P|MAP3K4_ENST00000348824.7_Missense_Mutation_p.Q536P	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	11	56	0	72	536					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			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		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)		GCACTGAAGCAGATGGGGTTA	0.438000													1	1	1	1	1	1	0.998806	11	57	0	74	1	7.834164e-01	5	12	0	74	5
MAP3K4	4216	broad.mit.edu	37	6	161530819	161530819	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:161530819T>C	ENST00000392142.4	+	23	4417	c.4269T>C	c.(4267-4269)gaT>gaC	p.D1423D	MAP3K4_ENST00000366919.2_Silent_p.D1373D|MAP3K4_ENST00000366920.2_Silent_p.D1419D|MAP3K4_ENST00000348824.7_Silent_p.D1369D	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	17	58	0	74	1423	Protein kinase.				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			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		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)		AGTACTGCGATGAGGGGACTT	0.458000													1	1	1	1	1	1	0.999992	18	62	0	81	1	9.996955e-01	17	35	0	81	5
RPS6KA2	6196	broad.mit.edu	37	6	166902356	166902356	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:166902356C>T	ENST00000510118.1	-	12	1287	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	RPS6KA2_ENST00000503859.1_Missense_Mutation_p.R299Q|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.R291Q|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.R202Q|RPS6KA2_ENST00000366863.2_Missense_Mutation_p.R137Q|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.R202Q			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	7	17	0	30	291	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			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		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)		GAAGAGAGCTCGCAGCAAACT	0.562000													1	1	1	1	1	1	0.998557	10	18	0	37	1	9.546342e-01	7	6	0	37	5
FRMD1	79981	broad.mit.edu	37	6	168468077	168468077	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:168468077G>T	ENST00000283309.6	-	3	418	c.354C>A	c.(352-354)ttC>ttA	p.F118L	FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.F50L	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	16	47	0	62	118	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		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)		AATCTTTTGAGAAGTACTTGC	0.478000													1	1	1	1	1	1	0.999985	17	54	0	65	0	0	0	0	0	65	5
THBS2	7058	broad.mit.edu	37	6	169629697	169629697	+	Silent	SNP	G	G	A	rs148360643	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:169629697G>A	ENST00000366787.3	-	15	2478	c.2229C>T	c.(2227-2229)gaC>gaT	p.D743D	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	32	64	0	96	743					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		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)		CATTGTCATCGTCATCATCAC	0.547000													1	1	1	1	1	1	1.000000	35	68	0	110	0	9.953043e-01	0	20	0	110	5
FAM120B	84498	broad.mit.edu	37	6	170627407	170627407	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr6:170627407A>G	ENST00000476287.1	+	2	1037	c.929A>G	c.(928-930)aAa>aGa	p.K310R	FAM120B_ENST00000540480.1_Missense_Mutation_p.K322R|FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.K333R	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	35	69	0	92	310					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		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)		CCAGGACAAAAATCTCCATGG	0.373000													1	1	1	1	1	1	1.000000	37	70	0	94	1	9.996622e-01	11	17	0	94	5
C7orf50	84310	broad.mit.edu	37	7	1037352	1037352	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:1037352G>A	ENST00000397098.3	-	5	1420	c.494C>T	c.(493-495)gCc>gTc	p.A165V	C7orf50_ENST00000357429.6_Missense_Mutation_p.A165V|C7orf50_ENST00000488073.1_5'UTR|C7orf50_ENST00000397100.2_Missense_Mutation_p.A165V			Q9BRJ6	CG050_HUMAN	chromosome 7 open reading frame 50	25	33	0	73	165							protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15)		CCGCATCAGGGCTTCCGCCTT	0.677000													1	1	1	1	1	1	1.000000	26	33	0	78	1	1	79	122	0	78	5
CARD11	84433	broad.mit.edu	37	7	2966401	2966401	+	Silent	SNP	G	G	A	rs138401482		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:2966401G>A	ENST00000396946.4	-	14	2182	c.1779C>T	c.(1777-1779)agC>agT	p.S593S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	4	31	0	41	593					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			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAAACCCGCCGCTGTCATTGT	0.582000			Mis		DLBCL								1	0	1	1	1	1	0.968505	6	40	0	50	1	9.662167e-01	8	37	0	50	4
PAPOLB	56903	broad.mit.edu	37	7	4901062	4901062	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:4901062C>T	ENST00000404991.1	-	1	563	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	13	20	0	20	126					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AAAGTCGCTTCGATCCACATG	0.438000													1	1	1	1	1	1	0.999855	13	21	0	20	0	8.025015e-01	0	7	0	20	5
SLC29A4	222962	broad.mit.edu	37	7	5338985	5338985	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:5338985G>A	ENST00000396872.2	+	9	1297	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H	SLC29A4_ENST00000297195.4_Missense_Mutation_p.R379H|SLC29A4_ENST00000439491.2_3'UTR|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R365H	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	7	39	0	47	379					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TCTGAGATCCGCCACTGCATC	0.642000													1	0	1	1	1	1	0.991006	8	54	0	48	1	9.981301e-01	14	73	0	48	4
ACTB	60	broad.mit.edu	37	7	5568242	5568242	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:5568242C>T	ENST00000331789.5	-	4	663	c.472G>A	c.(472-474)Ggg>Agg	p.G158R		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	42	113	0	132	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			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGGGTGACCCCGTCACCGGAG	0.607000													1	1	1	1	1	1	1.000000	43	116	0	140	1	1	2591	3392	0	140	5
AIMP2	7965	broad.mit.edu	37	7	6054938	6054938	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:6054938G>A	ENST00000223029.3	+	2	416	c.297G>A	c.(295-297)acG>acA	p.T99T	AIMP2_ENST00000395236.2_Intron|AIMP2_ENST00000400479.2_Silent_p.T21T	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	21	48	0	73	99	Interaction with PARK2.		EPT -> DLS (in a lung cancer cell line; no effect on proapoptotic activity).		apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ATGAGCCCACGACTTTAACCA	0.463000													1	1	1	1	1	1	1.000000	26	51	0	76	1	1	44	48	0	76	5
C1GALT1	56913	broad.mit.edu	37	7	7273978	7273978	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:7273978T>G	ENST00000436587.2	+	2	251	c.28T>G	c.(28-30)Tta>Gta	p.L10V	C1GALT1_ENST00000223122.2_Missense_Mutation_p.L10V|C1GALT1_ENST00000402468.3_Missense_Mutation_p.L10V	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	15	28	0	35	10					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		GCTGAATTTTTTAACCTTCCT	0.363000													1	1	1	1	1	1	0.999992	17	29	0	40	1	9.999782e-01	14	26	0	40	5
THSD7A	221981	broad.mit.edu	37	7	11485733	11485733	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:11485733C>T	ENST00000423059.3	-	13	3270	c.3019G>A	c.(3019-3021)Gat>Aat	p.D1007N	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	59	111	1	132	1007	TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCATTTTGATCGTAGCATGCC	0.423000										HNSCC(18;0.044)			1	0	1	1	1	1	1.000000	61	119	1	144	0	0	0	0	1	144	4
SCIN	85477	broad.mit.edu	37	7	12675689	12675689	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:12675689C>T	ENST00000297029.5	+	10	1440	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	SCIN_ENST00000519209.1_Nonsense_Mutation_p.R200*|SCIN_ENST00000445618.2_Nonsense_Mutation_p.R200*	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	4	11	0	24	447	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			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		AAATGCCACACGAGATGAGCT	0.468000													1	0	0	1	1	1	0.899434	4	12	0	28	0	7.864734e-01	0	11	0	28	3
ARL4A	10124	broad.mit.edu	37	7	12728459	12728459	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:12728459C>T	ENST00000396663.1	+	2	1062	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	ARL4A_ENST00000356797.3_Missense_Mutation_p.R194W|ARL4A_ENST00000404894.1_Missense_Mutation_p.R194W|ARL4A_ENST00000396662.1_Missense_Mutation_p.R194W|ARL4A_ENST00000396664.2_Missense_Mutation_p.R194W	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	18	41	0	66	194					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		AAAAATGTTGCGGCAACAGAA	0.378000													1	1	1	1	1	1	0.999994	18	46	0	69	1	9.999988e-01	38	37	0	69	5
ITGB8	3696	broad.mit.edu	37	7	20418911	20418911	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:20418911A>C	ENST00000222573.3	+	4	1310	c.626A>C	c.(625-627)aAt>aCt	p.N209T	ITGB8_ENST00000537992.1_Missense_Mutation_p.N74T	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	13	19	0	19	209	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AGGATTCATAATCAATGCAGG	0.328000													1	1	1	1	1	1	0.999934	14	22	0	22	1	9.999991e-01	17	42	0	22	5
ITGB8	3696	broad.mit.edu	37	7	20421365	20421365	+	Nonsense_Mutation	SNP	C	C	T	rs140287178		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:20421365C>T	ENST00000222573.3	+	6	1501	c.817C>T	c.(817-819)Cga>Tga	p.R273*	ITGB8_ENST00000537992.1_Nonsense_Mutation_p.R138*	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	14	54	0	60	273	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TATCGGATGGCGAAAAGAGGC	0.398000													1	1	0	1	1	1	0.999966	16	61	0	71	1	9.996040e-01	18	39	0	71	4
ABCB5	340273	broad.mit.edu	37	7	20685489	20685489	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:20685489G>T	ENST00000404938.2	+	8	1441	c.789G>T	c.(787-789)gaG>gaT	p.E263D		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	9	102	0	111	449	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			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGGCCCAGGAGAAAGAACTTC	0.403000													1	1	1	1	0	1	0.994823	9	107	0	125	0	0	0	0	0	125	4
DNAH11	8701	broad.mit.edu	37	7	21646328	21646328	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:21646328A>C	ENST00000328843.6	+	20	3860	c.3829A>C	c.(3829-3831)Aat>Cat	p.N1277H	DNAH11_ENST00000409508.3_Missense_Mutation_p.N1277H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4	9	0	17	1277	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAATGCAGAAAATCCATACAC	0.338000									Kartagener syndrome				1	0	1	1	1	1	0.974012	6	13	0	21	1	7.599405e-01	2	6	0	21	4
DNAH11	8701	broad.mit.edu	37	7	21747358	21747358	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:21747358G>A	ENST00000328843.6	+	41	6640	c.6609G>A	c.(6607-6609)caG>caA	p.Q2203Q	DNAH11_ENST00000409508.3_Silent_p.Q2196Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	9	23	0	25	2203	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACATGAAACAGAAGCCGGTTT	0.388000									Kartagener syndrome				1	1	1	1	1	1	0.998296	10	24	0	29	0	0	0	1	0	29	5
RAPGEF5	9771	broad.mit.edu	37	7	22349699	22349699	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:22349699C>T	ENST00000405243.1	-	4	483	c.400G>A	c.(400-402)Gtt>Att	p.V134I	RAPGEF5_ENST00000344041.6_5'UTR			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	6	22	0	32	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TCTGACCCAACGCAGCTCCTC	0.438000													1	0	1	1	1	1	0.970955	6	22	0	32	1	6.021505e-02	2	0	0	32	4
IGF2BP3	10643	broad.mit.edu	37	7	23387299	23387299	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23387299G>A	ENST00000258729.3	-	7	1094	c.738C>T	c.(736-738)atC>atT	p.I246I		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	30	55	0	80	246	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			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAGTAGAGAGGATAGTAATCG	0.458000													1	1	1	1	1	1	1.000000	33	62	0	96	1	9.999844e-01	17	22	0	96	5
TRA2A	29896	broad.mit.edu	37	7	23547091	23547091	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23547091T>C	ENST00000297071.4	-	5	805	c.589A>G	c.(589-591)Acc>Gcc	p.T197A	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_Missense_Mutation_p.T96A|TRA2A_ENST00000538367.1_Missense_Mutation_p.T96A	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	28	72	0	140	197	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GCTCTCTTGGTTATAGAATAA	0.418000													1	1	1	1	1	1	1.000000	32	78	0	157	1	1	114	147	0	157	5
TRA2A	29896	broad.mit.edu	37	7	23556145	23556145	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23556145G>A	ENST00000297071.4	-	3	389	c.173C>T	c.(172-174)tCg>tTg	p.S58L	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	13	30	0	58	58	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CCTTGACCTCGACCTTTGAGA	0.398000													1	1	1	1	1	1	0.999794	13	32	0	63	1	1	130	161	0	63	5
FAM221A	340277	broad.mit.edu	37	7	23740474	23740474	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23740474G>T	ENST00000344962.4	+	6	904	c.815G>T	c.(814-816)cGa>cTa	p.R272L	FAM221A_ENST00000409994.3_Missense_Mutation_p.R178L|FAM221A_ENST00000409653.1_Missense_Mutation_p.R214L|FAM221A_ENST00000409192.3_Missense_Mutation_p.R236L|FAM221A_ENST00000483090.1_3'UTR	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	39	68	0	130	272																	TTTGAAAGACGATACCAGGAA	0.348000													1	1	1	1	1	1	1.000000	46	79	0	145	1	9.999810e-01	12	22	0	145	5
STK31	56164	broad.mit.edu	37	7	23811882	23811882	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23811882G>T	ENST00000354639.3	+	15	2345	c.1881G>T	c.(1879-1881)aaG>aaT	p.K627N	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.K650N|STK31_ENST00000428484.1_Missense_Mutation_p.K627N|STK31_ENST00000355870.3_Missense_Mutation_p.K650N	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	21	32	0	43	650							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGTTGAAAAGAGTAATTTGG	0.323000													1	1	1	1	1	1	1.000000	22	33	0	50	1	1.669691e-01	2	0	0	50	5
STK31	56164	broad.mit.edu	37	7	23871984	23871984	+	Nonstop_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:23871984A>C	ENST00000354639.3	+	24	3454	c.2990A>C	c.(2989-2991)tAa>tCa	p.*997S	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Nonstop_Mutation_p.*997S|STK31_ENST00000428484.1_Nonstop_Mutation_p.*997S|STK31_ENST00000355870.3_Nonstop_Mutation_p.*1020S	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	13	30	0	26	0	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTTGATTGTTAAATTATTATT	0.318000													1	1	1	1	1	1	0.999803	13	30	0	27	0	0	1	0	0	27	5
OSBPL3	26031	broad.mit.edu	37	7	24846441	24846441	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:24846441T>C	ENST00000313367.2	-	21	2849	c.2398A>G	c.(2398-2400)Aag>Gag	p.K800E	OSBPL3_ENST00000396431.1_Missense_Mutation_p.K769E|OSBPL3_ENST00000396429.1_Missense_Mutation_p.K764E|OSBPL3_ENST00000353930.1_Missense_Mutation_p.K764E|OSBPL3_ENST00000487020.1_Intron|OSBPL3_ENST00000352860.1_Missense_Mutation_p.K769E|OSBPL3_ENST00000409069.1_Missense_Mutation_p.K733E|OSBPL3_ENST00000431825.2_Missense_Mutation_p.K733E	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	20	54	0	68	800					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AATAAAGACTTTGATGATGGA	0.368000													1	1	1	1	1	1	0.999999	21	60	0	73	1	9.999765e-01	34	24	0	73	5
HOXA9	3205	broad.mit.edu	37	7	27203258	27203258	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:27203258C>A	ENST00000343483.6	-	2	855	c.783G>T	c.(781-783)atG>atT	p.M261I	HOXA9_ENST00000497089.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.M101I|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	50	94	0	142	261							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TGATTTTCTTCATTTTCATCC	0.483000			T	NUP98, MSI2	AML*								1	1	1	1	1	1	1.000000	54	99	0	152	1	9.120820e-01	2	8	0	152	5
HIBADH	11112	broad.mit.edu	37	7	27582659	27582659	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:27582659A>C	ENST00000265395.2	-	5	751	c.545T>G	c.(544-546)tTt>tGt	p.F182C		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	9	41	0	51	182					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	GGCAGCAGCAAATTCATCTTC	0.483000													1	1	1	1	1	1	0.998915	11	44	0	53	1	9.999882e-01	14	92	0	53	5
JAZF1	221895	broad.mit.edu	37	7	27935032	27935032	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:27935032G>T	ENST00000283928.5	-	3	357	c.192C>A	c.(190-192)ttC>ttA	p.F64L		NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	17	43	0	52	64					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CATCTGTCATGAATCTGAAAC	0.483000			T	SUZ12	endometrial stromal tumours								1	1	1	1	1	1	0.999987	17	47	0	54	0	4.136039e-01	1	4	0	54	5
CPVL	54504	broad.mit.edu	37	7	29111427	29111427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:29111427C>A	ENST00000409850.1	-	13	1472	c.826G>T	c.(826-828)Gaa>Taa	p.E276*	CPVL_ENST00000265394.5_Nonsense_Mutation_p.E276*|CPVL_ENST00000396276.3_Nonsense_Mutation_p.E276*			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	8	97	0	74	276					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CTGATGTGTTCTATGCATTCA	0.488000													1	1	1	1	0	1	0.990296	8	97	0	79	0	2.687917e-01	0	12	0	79	4
CPVL	54504	broad.mit.edu	37	7	29111954	29111954	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:29111954C>T	ENST00000409850.1	-	12	1341	c.695G>A	c.(694-696)gGa>gAa	p.G232E	CPVL_ENST00000265394.5_Missense_Mutation_p.G232E|CPVL_ENST00000396276.3_Missense_Mutation_p.G232E			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	20	35	0	49	232					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AATAGCAATTCCGTTCAGGTT	0.433000													1	1	1	1	1	1	1.000000	22	37	0	50	0	7.946997e-01	1	6	0	50	5
CCDC129	223075	broad.mit.edu	37	7	31617807	31617807	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:31617807C>A	ENST00000409210.1	+	6	837	c.653C>A	c.(652-654)tCt>tAt	p.S218Y	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.S336Y|CCDC129_ENST00000407970.3_Missense_Mutation_p.S310Y			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	23	14	0	36	310										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AATCATTTGTCTCTGTCAGTA	0.453000													1	1	1	1	1	1	1.000000	23	14	0	36	0	0	0	0	0	36	5
CCDC129	223075	broad.mit.edu	37	7	31692174	31692174	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:31692174A>C	ENST00000319386.3	+	14	3415	c.2422A>C	c.(2422-2424)Aat>Cat	p.N808H	CCDC129_ENST00000451887.2_Missense_Mutation_p.N982H|CCDC129_ENST00000409210.1_Missense_Mutation_p.N864H|CCDC129_ENST00000407970.3_Missense_Mutation_p.N956H			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	5	9	0	13	956	Cys-rich.									cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACACTATTCAAATCTGCATCA	0.458000													0	0	1	0	1	1	0.975837	6	10	0	14	0	0	0	0	0	14	2
LSM5	0	broad.mit.edu	37	7	32526906	32526906	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:32526906C>T	ENST00000450169.2	-	5	296		c.e5-1		LSM5_ENST00000409952.3_Splice_Site|LSM5_ENST00000409987.1_Splice_Site|LSM5_ENST00000410044.1_Splice_Site|LSM5_ENST00000409909.3_Splice_Site|LSM5_ENST00000409782.1_Splice_Site|LSM5_ENST00000409292.1_Splice_Site	NM_001130710.1|NM_012322.2	NP_001124182.1|NP_036454.1	Q9Y4Y9	LSM5_HUMAN	LSM5 homolog, U6 small nuclear RNA associated (S. cerevisiae)	13	12	0	31						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding			breast(1)|cervix(1)|large_intestine(1)|lung(1)|stomach(1)	5			GBM - Glioblastoma multiforme(11;0.152)			CAGGAACCAGCTGCATAAAGA	0.393000													1	1	1	1	1	1	0.999961	14	14	0	36	0	1	0	176	0	36	5
NPSR1	387129	broad.mit.edu	37	7	34888160	34888160	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:34888160G>A	ENST00000360581.1	+	8	1038	c.910G>A	c.(910-912)Gac>Aac	p.D304N	NPSR1_ENST00000381542.1_Missense_Mutation_p.D238N|NPSR1_ENST00000381539.3_Missense_Mutation_p.D304N|NPSR1_ENST00000359791.1_Missense_Mutation_p.D304N|NPSR1_ENST00000531252.1_Missense_Mutation_p.D293N	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	84	150	0	235	304						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCTCCTTCCAGACACCCAGGA	0.493000													1	1	1	1	1	1	1.000000	90	159	0	238	0	0	0	0	0	238	5
ANLN	54443	broad.mit.edu	37	7	36459027	36459027	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:36459027A>C	ENST00000265748.2	+	10	2029	c.1808A>C	c.(1807-1809)aAt>aCt	p.N603T	ANLN_ENST00000396068.2_Missense_Mutation_p.N566T	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	29	32	0	55	603	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GATGCACTGAATATCTCCTCA	0.443000													1	1	1	1	1	1	1.000000	33	34	0	59	1	1	18	24	0	59	5
ELMO1	9844	broad.mit.edu	37	7	37264564	37264564	+	Silent	SNP	C	C	T	rs148167670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:37264564C>T	ENST00000310758.4	-	9	1268	c.621G>A	c.(619-621)tcG>tcA	p.S207S	ELMO1_ENST00000442504.1_Silent_p.S207S|ELMO1_ENST00000448602.1_Silent_p.S207S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	21	41	1	73	207					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	p.S207S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGAGCACCATCGACTCCAAAA	0.502000													1	0	1	1	1	1	0.999966	22	42	1	73	0	0	0	1	1	73	4
NME8	51314	broad.mit.edu	37	7	37890277	37890277	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:37890277A>G	ENST00000199447.4	+	5	510	c.138A>G	c.(136-138)caA>caG	p.Q46Q	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.Q46Q	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	19	35	0	79	46	Thioredoxin.				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										GAGCAATGCAACCTTTATTCA	0.343000													1	1	1	1	1	1	1.000000	22	38	0	89	0	0	0	0	0	89	5
AMPH	273	broad.mit.edu	37	7	38431504	38431504	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:38431504G>A	ENST00000356264.2	-	19	1938	c.1723C>T	c.(1723-1725)Ccg>Tcg	p.P575S	AMPH_ENST00000325590.5_Missense_Mutation_p.P533S|AMPH_ENST00000428293.2_Missense_Mutation_p.P533S	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	24	36	0	64	575					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.P575S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGGGGCCCGGAGGAGCCGCG	0.612000													1	1	1	1	1	1	1.000000	25	37	0	65	0	0	0	0	0	65	5
FAM183B	340286	broad.mit.edu	37	7	38725348	38725348	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:38725348C>A	ENST00000409072.3	-	2	1192	c.258G>T	c.(256-258)caG>caT	p.Q86H						family with sequence similarity 183, member B	15	147	0	143											endometrium(1)|lung(7)	8						GGTTTTCAGTCTGTGCCTCCG	0.547000													1	1	1	1	1	1	0.999974	17	150	0	154	0	0	0	1	0	154	5
YAE1D1	57002	broad.mit.edu	37	7	39611989	39611989	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:39611989A>T	ENST00000223273.2	+	3	408	c.365A>T	c.(364-366)aAa>aTa	p.K122I	YAE1D1_ENST00000432096.2_Intron|YAE1D1_ENST00000448268.1_3'UTR	NM_020192.3	NP_064577.1	Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	19	42	0	61	122																	AAACATCTGAAATCAATCACT	0.378000													1	1	1	1	1	1	0.999999	20	47	0	67	1	9.999866e-01	24	28	0	67	5
C7orf10	79783	broad.mit.edu	37	7	40899972	40899972	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:40899972T>C	ENST00000309930.5	+	15	1334	c.1310T>C	c.(1309-1311)cTc>cCc	p.L437P	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Missense_Mutation_p.L363P|C7orf10_ENST00000335693.4_Missense_Mutation_p.L411P	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	43	96	0	239	411							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CCCCCGCTGCTCGGGCAGCAC	0.567000													1	1	1	1	1	1	1.000000	50	110	0	271	1	9.422670e-01	2	11	0	271	5
GLI3	2737	broad.mit.edu	37	7	42005605	42005605	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:42005605C>T	ENST00000395925.3	-	15	3150	c.3066G>A	c.(3064-3066)ccG>ccA	p.P1022P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	12	19	0	51	1022					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			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGCTGAAGCGCGGCACACGAG	0.736000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				1	1	1	1	0	1	0.999976	15	19	0	54	0	0	0	0	0	54	4
GLI3	2737	broad.mit.edu	37	7	42116368	42116368	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:42116368C>T	ENST00000395925.3	-	4	540	c.456G>A	c.(454-456)ccG>ccA	p.P152P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	23	29	0	51	152					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			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATGGAGGAATCGGAGATGGAT	0.423000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				1	1	1	1	1	1	1.000000	25	34	0	56	0	0	0	0	0	56	5
POLD2	5425	broad.mit.edu	37	7	44154947	44154947	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:44154947G>A	ENST00000406581.2	-	11	1845	c.1196C>T	c.(1195-1197)cCg>cTg	p.P399L	POLD2_ENST00000223361.3_Missense_Mutation_p.P385L|POLD2_ENST00000452185.1_Missense_Mutation_p.P399L	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	47	65	0	121	399					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	p.P399Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GTAGACATGCGGGCACTCTGG	0.532000													1	1	1	1	1	1	1.000000	53	72	0	133	1	1	261	306	0	133	5
OGDH	4967	broad.mit.edu	37	7	44739760	44739760	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:44739760C>T	ENST00000222673.5	+	19	2493	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	OGDH_ENST00000444676.1_Silent_p.F832F|OGDH_ENST00000439616.2_Silent_p.F667F|OGDH_ENST00000447398.1_Silent_p.F828F|OGDH_ENST00000543843.1_Silent_p.F768F|OGDH_ENST00000449767.1_Silent_p.F813F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	54	100	0	138	817					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AAGCCAACTTCGACATCAATC	0.542000													1	0	1	1	1	1	1.000000	57	106	0	151	1	1	59	64	0	151	4
ABCA13	154664	broad.mit.edu	37	7	48315509	48315509	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:48315509G>T	ENST00000435803.1	+	17	6270	c.6246G>T	c.(6244-6246)atG>atT	p.M2082I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	6	37	0	26	2082					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTCTGAAATGAACAAAGGAA	0.368000													1	1	1	1	1	1	0.995774	9	38	0	26	0	0	0	0	0	26	5
ZPBP	11055	broad.mit.edu	37	7	50129291	50129291	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:50129291G>A	ENST00000046087.2	-	2	211	c.142C>T	c.(142-144)Cga>Tga	p.R48*	ZPBP_ENST00000419417.1_Nonsense_Mutation_p.R48*	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	5	11	0	13	48					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CTTGGTAATCGAACCAAGTGT	0.284000													0	0	1	1	1	1	0.975154	6	11	0	15	0	0	0	0	0	15	3
FIGNL1	63979	broad.mit.edu	37	7	50513646	50513646	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:50513646T>G	ENST00000419119.1	-	2	2893	c.1340A>C	c.(1339-1341)aAa>aCa	p.K447T	FIGNL1_ENST00000433017.1_Missense_Mutation_p.K447T|FIGNL1_ENST00000356889.4_Missense_Mutation_p.K447T|FIGNL1_ENST00000395556.2_Missense_Mutation_p.K447T			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	19	24	0	43	447					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			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AATTAGAGTTTTACCAGTCCC	0.458000													1	1	1	1	1	1	0.999999	19	24	0	43	1	9.962190e-01	5	11	0	43	5
COBL	23242	broad.mit.edu	37	7	51111094	51111094	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:51111094C>A	ENST00000395542.2	-	10	1822	c.1638G>T	c.(1636-1638)gaG>gaT	p.E546D	COBL_ENST00000265136.7_Missense_Mutation_p.E464D			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	7	64	0	89	464										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GATGTGAGTTCTCAGAGCCAT	0.562000													1	0	1	1	0	1	0.982327	7	69	0	95	0	7.502534e-01	1	27	0	95	3
ZNF716	441234	broad.mit.edu	37	7	57529030	57529030	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:57529030G>T	ENST00000420713.1	+	4	975	c.863G>T	c.(862-864)aGa>aTa	p.R288I		NM_001159279.1	NP_001152751.1			zinc finger protein 716	22	10	0	24											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AACTACAAGAGAATTCATACT	0.408000													1	0	1	1	1	1	1.000000	22	11	0	27	0	0	0	0	0	27	4
ZNF680	340252	broad.mit.edu	37	7	63982090	63982090	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:63982090T>C	ENST00000309683.6	-	4	1193	c.1042A>G	c.(1042-1044)Aaa>Gaa	p.K348E		NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	11	44	0	35	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TTGTAGGGTTTCTCTCCAGTA	0.343000													1	1	1	1	1	1	0.999455	12	47	0	39	0	4.812269e-02	1	1	0	39	5
ZNF680	340252	broad.mit.edu	37	7	63982573	63982573	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:63982573A>C	ENST00000309683.6	-	4	710	c.559T>G	c.(559-561)Tgt>Ggt	p.C187G	ZNF680_ENST00000476563.1_5'UTR	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	9	16	0	18	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GATTTGCCACATTCTTTACAT	0.294000													1	1	1	1	1	1	0.997050	9	16	0	18	1	8.244655e-01	2	6	0	18	5
TPST1	8460	broad.mit.edu	37	7	65705768	65705768	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:65705768A>G	ENST00000304842.5	+	2	781	c.356A>G	c.(355-357)aAa>aGa	p.K119R	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	25	41	0	67	119					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CGGTCAAGTAAAGAGAAGATC	0.522000													1	1	1	1	1	1	1.000000	28	47	0	76	1	9.999649e-01	16	18	0	76	5
AUTS2	26053	broad.mit.edu	37	7	70227923	70227923	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:70227923G>T	ENST00000342771.4	+	7	1131	c.810G>T	c.(808-810)aaG>aaT	p.K270N	AUTS2_ENST00000406775.2_Missense_Mutation_p.K270N	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	80	144	0	263	270										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		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)		TTGTCCCCAAGATATCGGGTC	0.547000													1	1	1	1	1	1	1.000000	84	157	0	292	1	8.741303e-01	5	4	0	292	5
WBSCR17	64409	broad.mit.edu	37	7	70881033	70881033	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:70881033G>A	ENST00000333538.5	+	4	1382	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	18	45	0	74	250	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGCCCACGTGGAATTCACCGC	0.567000													1	1	1	1	1	1	0.999999	21	48	0	87	0	0	0	0	0	87	5
WBSCR17	64409	broad.mit.edu	37	7	70885996	70885996	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:70885996G>T	ENST00000333538.5	+	5	1501	c.867G>T	c.(865-867)gaG>gaT	p.E289D	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	55	118	0	178	289						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGCGGTACGAGAACTCGGCCC	0.582000													1	1	1	1	1	1	1.000000	56	123	0	182	0	0	0	0	0	182	5
TRIM50	135892	broad.mit.edu	37	7	72733015	72733015	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:72733015C>T	ENST00000333149.2	-	4	732	c.532G>A	c.(532-534)Gag>Aag	p.E178K	TRIM50_ENST00000453152.1_Missense_Mutation_p.E178K	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	37	102	0	133	178						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						TCCTGGAACTCGCGGCGGATC	0.652000													1	1	1	1	1	1	1.000000	40	110	0	148	0	0	0	0	0	148	5
FZD9	8326	broad.mit.edu	37	7	72849234	72849234	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:72849234C>T	ENST00000344575.3	+	1	1126	c.897C>T	c.(895-897)ggC>ggT	p.G299G		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	50	83	0	156	299					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)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGGAGGCGGGCGCGCTCTACG	0.637000													1	1	1	1	1	1	1.000000	51	86	0	162	1	8.566337e-01	5	3	0	162	5
NCF1	653361	broad.mit.edu	37	7	74197898	74197898	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:74197898G>T	ENST00000289473.4	+	7	675	c.605G>T	c.(604-606)cGa>cTa	p.R202L	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	15	35	0	86	202	SH3 1.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						AAAGCAAAGCGAGGCTGGATC	0.637000													1	0	1	1	0	1	0.999978	16	37	0	94	1	9.405577e-01	2	12	0	94	3
PTPN12	0	broad.mit.edu	37	7	77166889	77166889	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77166889A>C	ENST00000248594.6	+	1	298	c.26A>C	c.(25-27)aAa>aCa	p.K9T		NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	8	14	0	27	9						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						ATCCTGAGGAAATTCATCCAG	0.667000													1	1	1	1	0	1	0.997155	9	15	0	31	1	9.889960e-01	8	10	0	31	4
PTPN12	0	broad.mit.edu	37	7	77230000	77230000	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77230000A>C	ENST00000248594.6	+	8	844	c.572A>C	c.(571-573)cAg>cCg	p.Q191P	PTPN12_ENST00000435495.2_Missense_Mutation_p.Q61P|PTPN12_ENST00000415482.2_Missense_Mutation_p.Q72P	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	3	13	0	15	191	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AGGCTGTATCAGTTTCATTAT	0.338000													0	0	1	0	1	1	0.813480	3	13	0	17	1	9.813573e-01	29	15	0	17	2
PTPN12	0	broad.mit.edu	37	7	77240094	77240094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77240094G>T	ENST00000248594.6	+	10	1047	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	PTPN12_ENST00000435495.2_Nonsense_Mutation_p.E129*|PTPN12_ENST00000415482.2_Nonsense_Mutation_p.E140*	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	10	20	0	25	259	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AATACCAGAGGAATTTAATGT	0.259000													1	1	0	1	1	1	0.998260	10	25	0	26	1	9.982598e-01	4	31	0	26	4
RSBN1L	222194	broad.mit.edu	37	7	77378805	77378805	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77378805G>T	ENST00000334955.7	+	3	795	c.768G>T	c.(766-768)aaG>aaT	p.K256N	RSBN1L_ENST00000445288.1_5'UTR	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	11	17	0	32	256	Lys-rich.					nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAAGAAAAAGAAAAAGAAAC	0.323000													1	1	1	1	1	1	0.999713	12	18	0	32	1	9.895645e-01	5	11	0	32	5
PHTF2	57157	broad.mit.edu	37	7	77579062	77579062	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77579062C>T	ENST00000416283.2	+	15	2051	c.1925C>T	c.(1924-1926)tCg>tTg	p.S642L	PHTF2_ENST00000307305.8_Missense_Mutation_p.S638L|PHTF2_ENST00000422959.2_Missense_Mutation_p.S642L|PHTF2_ENST00000275575.7_Intron|PHTF2_ENST00000248550.7_Missense_Mutation_p.S676L	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	5	7	0	9	676					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGGTGCATCTCGTTAACACTT	0.353000													0	0	1	1	0	1	0.953593	5	7	0	9	1	9.876010e-01	9	9	0	9	2
MAGI2	9863	broad.mit.edu	37	7	77885413	77885413	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:77885413G>T	ENST00000354212.4	-	10	2147	c.1894C>A	c.(1894-1896)Ctt>Att	p.L632I	MAGI2_ENST00000535697.1_Missense_Mutation_p.L469I|MAGI2_ENST00000419488.1_Missense_Mutation_p.L632I|MAGI2_ENST00000536571.1_Missense_Mutation_p.L464I|MAGI2_ENST00000522391.1_Missense_Mutation_p.L632I	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	11	15	0	24	632	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGAATGTCAAGTATTTGTTTC	0.493000													1	1	1	1	1	1	0.999379	11	17	0	24	0	0	0	0	0	24	5
CACNA2D1	781	broad.mit.edu	37	7	81978960	81978960	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:81978960T>G	ENST00000356860.3	-	2	439	c.101A>C	c.(100-102)aAa>aCa	p.K34T	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.K34T|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.K34T	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	8	47	0	64	34						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CACCCATGATTTGATACTGCA	0.363000													1	1	1	1	1	1	0.995435	9	51	0	68	0	0	0	0	0	68	5
PCLO	27445	broad.mit.edu	37	7	82538315	82538315	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:82538315G>A	ENST00000423517.2	-	8	13652	c.13315C>T	c.(13315-13317)Cgt>Tgt	p.R4439C	PCLO_ENST00000333891.8_Missense_Mutation_p.R4439C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	13	23	0	36	4370	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTTCCTCACGACGCAGATGA	0.458000													1	1	1	1	1	1	0.999927	14	24	0	38	0	0	0	0	0	38	5
PCLO	27445	broad.mit.edu	37	7	82544538	82544538	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:82544538A>C	ENST00000423517.2	-	7	13101	c.12764T>G	c.(12763-12765)tTt>tGt	p.F4255C	PCLO_ENST00000333891.8_Missense_Mutation_p.F4255C|PCLO_ENST00000437081.1_Missense_Mutation_p.F975C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	8	19	0	24	4186	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGATCCCATAAATTTTTGTTG	0.458000													1	1	1	1	1	1	0.996615	9	21	0	25	0	2.389706e-01	0	3	0	25	5
SEMA3E	9723	broad.mit.edu	37	7	82996969	82996969	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:82996969G>T	ENST00000307792.3	-	17	2728	c.2261C>A	c.(2260-2262)cCt>cAt	p.P754H	SEMA3E_ENST00000427262.1_Missense_Mutation_p.P694H	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	40	109	0	189	754	Arg/Lys-rich (basic).				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTTTTCCTGAGGGTTGGCATA	0.473000													1	1	1	1	1	1	1.000000	42	111	0	197	0	0	0	0	0	197	5
SEMA3E	9723	broad.mit.edu	37	7	83014659	83014659	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:83014659G>A	ENST00000307792.3	-	16	2293	c.1826C>T	c.(1825-1827)gCg>gTg	p.A609V	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A549V	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	39	59	0	99	609	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATAACTTTCGCTTGTAAAGA	0.398000													1	1	1	1	1	1	1.000000	42	65	0	107	0	0	0	0	0	107	5
SEMA3A	10371	broad.mit.edu	37	7	83823879	83823879	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:83823879G>A	ENST00000265362.3	-	1	338	c.24C>T	c.(22-24)gtC>gtT	p.V8V	SEMA3A_ENST00000436949.1_Silent_p.V8V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	41	69	0	134	8					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGAAAAGACAGACAATCCTAG	0.428000													1	1	1	1	1	1	1.000000	47	72	0	153	1	9.946133e-01	6	10	0	153	5
ABCB4	5244	broad.mit.edu	37	7	87035618	87035618	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87035618C>T	ENST00000265723.4	-	26	3604	c.3493G>A	c.(3493-3495)Gag>Aag	p.E1165K	ABCB4_ENST00000545634.1_Missense_Mutation_p.E1158K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E1111K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E1158K|ABCB4_ENST00000453593.1_Missense_Mutation_p.E1111K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	7	66	0	93	1165	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GGTAACGTCTCGATGAAAGGA	0.423000													1	1	1	1	0	1	0.982279	7	71	0	99	0	0	0	1	0	99	4
ABCB4	5244	broad.mit.edu	37	7	87043015	87043015	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87043015C>T	ENST00000265723.4	-	22	2812	c.2701G>A	c.(2701-2703)Gaa>Aaa	p.E901K	ABCB4_ENST00000545634.1_Missense_Mutation_p.E901K|ABCB4_ENST00000358400.3_Missense_Mutation_p.E901K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E901K|ABCB4_ENST00000453593.1_Missense_Mutation_p.E901K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	20	39	0	66	901	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.E901K(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTAATATTTTCTATTGCCTCT	0.343000													1	1	1	1	1	1	1.000000	22	43	0	74	0	0	0	0	0	74	5
ABCB1	5243	broad.mit.edu	37	7	87168615	87168615	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87168615C>T	ENST00000265724.3	-	20	2783	c.2366G>A	c.(2365-2367)cGa>cAa	p.R789Q	ABCB1_ENST00000543898.1_Missense_Mutation_p.R725Q	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	14	26	0	54	789	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			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	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)	AACCATGTATCGGAGCCGCTT	0.522000													1	1	1	1	1	1	0.999981	16	31	0	68	0	2.816327e-01	0	3	0	68	5
ABCB1	5243	broad.mit.edu	37	7	87196193	87196193	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87196193T>G	ENST00000265724.3	-	7	855	c.438A>C	c.(436-438)aaA>aaC	p.K146N	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	18	40	0	74	146	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			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	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)	GTTTTCTAATTTTGTGTATTT	0.433000													1	1	1	1	1	1	0.999998	19	41	0	77	0	0	0	1	0	77	5
STEAP4	79689	broad.mit.edu	37	7	87913198	87913198	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:87913198G>A	ENST00000380079.4	-	2	488	c.387C>T	c.(385-387)caC>caT	p.H129H	STEAP4_ENST00000301959.5_Silent_p.H129H|STEAP4_ENST00000414498.1_Silent_p.H129H|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	25	74	0	126	129					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			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTTTTACCACGTGGGCTCCTG	0.423000													1	0	1	1	1	1	1.000000	29	79	0	145	1	6.779282e-01	5	3	0	145	4
ZNF804B	219578	broad.mit.edu	37	7	88389380	88389380	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88389380G>T	ENST00000333190.4	+	1	699	c.90G>T	c.(88-90)aaG>aaT	p.K30N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	32	80	0	112	30						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCCTGTGCAAGAACGGATCTC	0.502000										HNSCC(36;0.09)			1	1	1	1	0	1	1.000000	34	87	0	124	0	0	0	0	0	124	4
C7orf62	219557	broad.mit.edu	37	7	88423783	88423783	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88423783G>A	ENST00000297203.2	-	2	659	c.474C>T	c.(472-474)ctC>ctT	p.L158L	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	24	61	1	101	158										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCACATCGTCGAGATACATAA	0.363000													1	0	1	1	1	1	0.999999	28	66	1	109	0	0	0	0	1	109	4
ZNF804B	219578	broad.mit.edu	37	7	88962766	88962766	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88962766G>T	ENST00000333190.4	+	4	1079	c.470G>T	c.(469-471)aGa>aTa	p.R157I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	20	29	0	50	157						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGAATGGCAGAAAGGTATCA	0.438000										HNSCC(36;0.09)			1	1	1	1	1	1	1.000000	21	29	0	50	0	0	0	0	0	50	5
ZNF804B	219578	broad.mit.edu	37	7	88964251	88964251	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88964251G>T	ENST00000333190.4	+	4	2564	c.1955G>T	c.(1954-1956)aGa>aTa	p.R652I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	24	38	0	49	652						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAAGATGAAAGACAATTCAAC	0.398000										HNSCC(36;0.09)			1	1	1	1	1	1	1.000000	28	42	0	54	0	0	0	0	0	54	5
ZNF804B	219578	broad.mit.edu	37	7	88964999	88964999	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:88964999G>T	ENST00000333190.4	+	4	3312	c.2703G>T	c.(2701-2703)aaG>aaT	p.K901N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	36	104	0	108	901						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GCCTTCTAAAGAACTGTTCCA	0.463000										HNSCC(36;0.09)			1	1	1	1	1	1	1.000000	39	108	0	109	0	0	0	0	0	109	5
C7orf63	79846	broad.mit.edu	37	7	89934069	89934069	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:89934069T>G	ENST00000389297.4	+	19	2451	c.2200T>G	c.(2200-2202)Tta>Gta	p.L734V	C7orf63_ENST00000497910.1_Missense_Mutation_p.L716V|C7orf63_ENST00000316089.8_Missense_Mutation_p.L688V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	14	19	0	37	734							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTTTGAAAATTTACCTGGCCT	0.264000													1	1	1	1	1	1	0.999943	14	19	0	41	1	9.650191e-01	2	9	0	41	5
AKAP9	10142	broad.mit.edu	37	7	91724364	91724364	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:91724364A>G	ENST00000359028.2	+	40	9843	c.9618A>G	c.(9616-9618)gaA>gaG	p.E3206E	AKAP9_ENST00000358100.2_Silent_p.E3152E|AKAP9_ENST00000356239.3_Silent_p.E3202E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	18	33	0	34	3206					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	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)			AGACAGATGAAGTACATTTGC	0.383000			T	BRAF	papillary thyroid								1	1	1	1	1	1	0.999998	19	34	0	36	1	9.980203e-01	7	16	0	36	5
CYP51A1	1595	broad.mit.edu	37	7	91755658	91755658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:91755658C>A	ENST00000003100.8	-	5	844	c.679G>T	c.(679-681)Gaa>Taa	p.E227*	CYP51A1_ENST00000450723.1_Nonsense_Mutation_p.E122*|LRRD1_ENST00000422722.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	6	13	0	24	221					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	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)	GCTACCTTTTCATTGAGTTGA	0.428000													0	0	1	1	1	1	0.974012	6	13	0	23	0	0	0	1	0	23	3
PEX1	5189	broad.mit.edu	37	7	92131270	92131270	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92131270A>C	ENST00000248633.4	-	14	2445	c.2350T>G	c.(2350-2352)Ttt>Gtt	p.F784V	PEX1_ENST00000428214.1_Missense_Mutation_p.F727V|PEX1_ENST00000438045.1_Missense_Mutation_p.F462V|PEX1_ENST00000541751.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	52	114	0	227	784					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			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	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)			AGTACTGTAAAATCTCTAGCC	0.378000													1	1	1	1	1	1	1.000000	56	127	0	259	1	9.373880e-01	9	4	0	259	5
RBM48	84060	broad.mit.edu	37	7	92158959	92158959	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92158959T>G	ENST00000481551.1	+	2	322	c.281T>G	c.(280-282)tTt>tGt	p.F94C	RBM48_ENST00000265732.5_Missense_Mutation_p.F94C			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	8	17	0	27	94							nucleotide binding										CTTATTAAATTTATGAACTTA	0.348000													0	0	1	0	0	1	0.993471	8	17	0	28	1	9.277527e-01	5	8	0	28	1
CDK6	1021	broad.mit.edu	37	7	92462505	92462505	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92462505C>T	ENST00000265734.4	-	2	544	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	CDK6_ENST00000424848.2_Missense_Mutation_p.V45M	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	6	13	0	14	45	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)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	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)			TGCACCCGCACGCGCTTCAAC	0.662000			T	MLLT10	ALL								0	0	1	1	1	1	0.987544	7	13	0	14	0	0	0	1	0	14	3
SAMD9L	219285	broad.mit.edu	37	7	92761694	92761694	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92761694G>T	ENST00000318238.4	-	5	4807	c.3591C>A	c.(3589-3591)ttC>ttA	p.F1197L	SAMD9L_ENST00000437805.1_Missense_Mutation_p.F1197L|SAMD9L_ENST00000411955.1_Missense_Mutation_p.F1197L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	42	68	0	132	1197										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	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)			TTTCACCCAAGAAACAAGCTG	0.378000													1	1	1	1	1	1	1.000000	46	70	0	142	0	8.315527e-01	1	6	0	142	5
SAMD9L	219285	broad.mit.edu	37	7	92764273	92764273	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92764273T>G	ENST00000318238.4	-	5	2228	c.1012A>C	c.(1012-1014)Aat>Cat	p.N338H	SAMD9L_ENST00000437805.1_Missense_Mutation_p.N338H|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N338H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	15	88	0	86	338										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	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)			AGTGAAAGATTTTGGTTTTGT	0.323000													1	1	1	1	1	1	0.999914	15	89	0	86	0	0	0	1	0	86	5
HEPACAM2	253012	broad.mit.edu	37	7	92838084	92838084	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92838084G>T	ENST00000394468.2	-	4	898	c.821C>A	c.(820-822)tCt>tAt	p.S274Y	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.S262Y|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.S297Y|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.S262Y	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	6	68	0	65	274	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GGGGGGATGAGAATCAGCAGA	0.438000													1	0	1	1	0	1	0.966953	6	73	0	72	0	0	0	0	0	72	3
CCDC132	55610	broad.mit.edu	37	7	92926544	92926544	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:92926544G>T	ENST00000544910.1	+	17	1480	c.1260G>T	c.(1258-1260)aaG>aaT	p.K420N	CCDC132_ENST00000305866.5_Missense_Mutation_p.K450N|CCDC132_ENST00000317751.6_Missense_Mutation_p.K181N|CCDC132_ENST00000535481.1_Missense_Mutation_p.K170N|CCDC132_ENST00000541136.1_Missense_Mutation_p.K261N	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	5	23	0	25	450								p.K450N(1)		endometrium(1)|large_intestine(2)|lung(5)	8	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)			ATTATTTCAAGAATTACCATA	0.284000													1	0	1	1	1	1	0.970533	6	24	0	28	1	8.606290e-01	2	15	0	28	4
COL1A2	1278	broad.mit.edu	37	7	94052341	94052341	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:94052341G>T	ENST00000297268.6	+	40	2947	c.2476G>T	c.(2476-2478)Ggt>Tgt	p.G826C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	44	71	0	154	826			Missing (in OI2A).		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)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGACCAAGGTCCAGTTGG	0.562000										HNSCC(75;0.22)			1	1	1	1	1	1	1.000000	46	72	0	159	0	1	1	566	0	159	5
CASD1	64921	broad.mit.edu	37	7	94163031	94163031	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:94163031C>T	ENST00000297273.4	+	7	832	c.545C>T	c.(544-546)tCt>tTt	p.S182F		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	6	33	0	49	182						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	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)			GAAGCGCTTTCTCAATATAAA	0.318000													1	0	1	1	1	1	0.969182	6	33	0	52	1	7.358654e-01	6	10	0	52	4
CASD1	64921	broad.mit.edu	37	7	94178860	94178860	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:94178860A>C	ENST00000297273.4	+	14	2016	c.1729A>C	c.(1729-1731)Atc>Ctc	p.I577L		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	18	34	0	66	577						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	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)			ATTTGAGAAGATCTTTTCTCT	0.333000													1	1	1	1	1	1	0.999999	20	35	0	75	1	9.987277e-01	13	11	0	75	5
SLC25A13	10165	broad.mit.edu	37	7	95813703	95813703	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:95813703G>A	ENST00000416240.2	-	11	1256	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*	SLC25A13_ENST00000542654.1_Nonsense_Mutation_p.R247*|SLC25A13_ENST00000265631.5_Nonsense_Mutation_p.R355*	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	19	25	0	44	355					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTCTGCATTCGAGTTTTTACA	0.373000													1	1	1	1	1	1	1.000000	20	26	0	46	1	9.999949e-01	5	32	0	46	5
DLX5	1749	broad.mit.edu	37	7	96650352	96650352	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:96650352C>A	ENST00000222598.4	-	3	1039	c.566G>T	c.(565-567)aGa>aTa	p.R189I	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	11	26	0	55	189					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	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)					GATCTTGGATCTTTTGTTCTG	0.587000													1	1	1	1	1	1	0.999819	13	27	0	65	0	6.342905e-01	1	5	0	65	5
LMTK2	22853	broad.mit.edu	37	7	97788728	97788728	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:97788728C>A	ENST00000297293.5	+	6	941	c.648C>A	c.(646-648)ttC>ttA	p.F216L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	14	40	0	62	216	Protein kinase.				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			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	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)					TGTTTGAGTTCTGTGACTTGG	0.423000													1	1	1	1	1	1	0.999941	15	47	0	71	0	3.671068e-01	1	4	0	71	5
NPTX2	4885	broad.mit.edu	37	7	98257875	98257875	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98257875C>T	ENST00000265634.3	+	5	1395	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	4	10	0	21	410	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.V410V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	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)			ACAATAACGTCGATGTGTTCG	0.582000													1	0	1	1	1	1	0.900958	4	10	0	21	0	6.511868e-01	0	7	0	21	4
TRRAP	8295	broad.mit.edu	37	7	98515126	98515126	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98515126C>T	ENST00000359863.4	+	20	2655	c.2446C>T	c.(2446-2448)Cgg>Tgg	p.R816W	TRRAP_ENST00000355540.3_Missense_Mutation_p.R816W|TRRAP_ENST00000446306.3_Missense_Mutation_p.R815W	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	18	46	0	80	816					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	p.R816W(2)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	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)			CGTCCCTGTGCGGCTGAGCTC	0.577000													1	1	1	1	1	1	0.999994	18	48	0	83	1	4.272641e-01	3	2	0	83	5
TRRAP	8295	broad.mit.edu	37	7	98519436	98519436	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98519436C>T	ENST00000359863.4	+	21	2892	c.2683C>T	c.(2683-2685)Ctc>Ttc	p.L895F	TRRAP_ENST00000355540.3_Missense_Mutation_p.L895F|TRRAP_ENST00000446306.3_Missense_Mutation_p.L894F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	53	90	0	102	895					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			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	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)			CTACCGTGTGCTCGGTAAGTT	0.547000													1	1	1	1	1	1	1.000000	55	95	0	108	1	7.096151e-01	2	4	0	108	5
TRRAP	8295	broad.mit.edu	37	7	98530911	98530911	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98530911G>A	ENST00000359863.4	+	27	4109	c.3900G>A	c.(3898-3900)caG>caA	p.Q1300Q	TRRAP_ENST00000355540.3_Silent_p.Q1300Q|TRRAP_ENST00000446306.3_Silent_p.Q1299Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	9	23	0	50	1300					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			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	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)			TCCGACACCAGCCTGCCAACG	0.582000													1	1	1	1	1	1	0.996475	9	23	0	51	1	7.043721e-01	4	4	0	51	5
TRRAP	8295	broad.mit.edu	37	7	98609882	98609882	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:98609882C>T	ENST00000359863.4	+	72	11693	c.11484C>T	c.(11482-11484)ttC>ttT	p.F3828F	TRRAP_ENST00000355540.3_Silent_p.F3799F|TRRAP_ENST00000446306.3_Silent_p.F3817F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	14	14	0	31	3828	FATC.				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	p.F3799F(1)|p.F3828F(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	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)			TCGCCCAGTTCGAAGGCGGGG	0.642000													1	1	1	1	1	1	0.999995	17	21	0	35	1	1	52	69	0	35	5
BUD31	8896	broad.mit.edu	37	7	99013774	99013774	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99013774G>A	ENST00000403633.2	+	4	637	c.108G>A	c.(106-108)ccG>ccA	p.P36P	BUD31_ENST00000222969.5_Silent_p.P36P|BUD31_ENST00000456893.1_Intron|BUD31_ENST00000431419.1_Silent_p.P7P			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	5	69	0	88	36					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	p.P36P(1)		autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	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)			AAACAGAACCGCATGAGGGAA	0.463000													0	0	1	0	0	1	0.939630	5	74	0	100	1	9.999216e-01	34	394	0	100	1
ZNF655	79027	broad.mit.edu	37	7	99169914	99169914	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99169914A>G	ENST00000424881.1	+	4	508	c.288A>G	c.(286-288)aaA>aaG	p.K96K	ZNF655_ENST00000493277.1_Silent_p.K96K|ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000252713.4_Silent_p.K61K|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000394163.2_Silent_p.K61K	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	18	48	1	62	61					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CTAAGCAGAAAATTTCGGAAG	0.383000													1	0	1	1	1	1	0.999477	20	54	1	68	0	3.086660e-01	1	2	1	68	4
CYP3A43	64816	broad.mit.edu	37	7	99454470	99454470	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99454470C>A	ENST00000354829.2	+	9	916	c.813C>A	c.(811-813)ttC>ttA	p.F271L	CYP3A43_ENST00000342499.4_Missense_Mutation_p.F131L|CYP3A43_ENST00000444905.1_Missense_Mutation_p.F18L|CYP3A43_ENST00000222382.5_Missense_Mutation_p.F271L|CYP3A43_ENST00000415413.1_Missense_Mutation_p.F60L|CYP3A43_ENST00000312017.5_Missense_Mutation_p.F271L|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000417625.1_Missense_Mutation_p.F161L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	29	60	0	80	271			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GAGTAGATTTCTTTCAACAGA	0.443000													1	1	1	1	1	1	1.000000	31	65	0	83	0	0	0	0	0	83	5
AZGP1	563	broad.mit.edu	37	7	99564860	99564860	+	Missense_Mutation	SNP	C	C	A	rs71696698		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99564860C>A	ENST00000292401.4	-	4	799	c.663G>T	c.(661-663)aaG>aaT	p.K221N	AZGP1_ENST00000411734.1_3'UTR|AZGP1_ENST00000483612.1_5'UTR	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	8	20	0	33	221	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					ACTTCAGTTTCTTCTTTTCTC	0.582000													0	0	1	1	1	1	0.993042	8	20	0	22	0	0	0	0	0	22	3
STAG3	10734	broad.mit.edu	37	7	99798886	99798886	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:99798886G>A	ENST00000426455.1	+	21	2539		c.e21-1		STAG3_ENST00000317296.5_Splice_Site|STAG3_ENST00000394018.2_Splice_Site|STAG3_ENST00000440830.1_Splice_Site|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	28	78	0	124						chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCCCCCAAAGCACTCATGAC	0.532000													1	1	1	1	1	1	1.000000	31	85	0	142	1	9.913752e-01	11	12	0	142	5
PCOLCE	5118	broad.mit.edu	37	7	100203323	100203323	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100203323T>C	ENST00000223061.5	+	5	893	c.613T>C	c.(613-615)Ttt>Ctt	p.F205L		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	7	7	0	10	205	CUB 2.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTTCGAGAAGTTTGACCTGGA	0.677000													0	1	1	1	0	1	0.997967	9	9	0	10	1	1	89	285	0	10	3
EPHB4	2050	broad.mit.edu	37	7	100401201	100401201	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100401201C>T	ENST00000358173.3	-	17	3314	c.2846G>A	c.(2845-2847)cGa>cAa	p.R949Q	EPHB4_ENST00000360620.3_Missense_Mutation_p.R897Q	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	4	17	0	20	949	SAM.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GACTCCGATTCGGAGCAGGTC	0.607000													1	0	1	1	1	1	0.896150	4	20	0	25	1	9.999299e-01	79	117	0	25	4
MUC17	140453	broad.mit.edu	37	7	100674925	100674925	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100674925C>T	ENST00000306151.4	+	3	292	c.228C>T	c.(226-228)gtC>gtT	p.V76V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	37	54	0	65	76						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACAAATGTCGTGGAGCCAA	0.453000													1	1	1	1	1	1	1.000000	39	62	0	72	0	0	0	0	0	72	5
MUC17	140453	broad.mit.edu	37	7	100685698	100685698	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100685698C>A	ENST00000306151.4	+	3	11065	c.11001C>A	c.(10999-11001)atC>atA	p.I3667I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	84	150	0	185	3667	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCTGTGATCACTTCTACCC	0.502000													1	0	1	1	1	1	1.000000	88	157	0	190	0	0	0	0	0	190	4
MUC17	140453	broad.mit.edu	37	7	100695217	100695217	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:100695217G>T	ENST00000306151.4	+	9	13141	c.13077G>T	c.(13075-13077)caG>caT	p.Q4359H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	65	115	0	169	4359						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAAGTGCCAGATGTCTCTAA	0.597000													1	1	1	1	1	1	1.000000	70	121	0	186	0	0	0	0	0	186	5
PRKRIP1	79706	broad.mit.edu	37	7	102016751	102016751	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:102016751C>T	ENST00000462601.1	+	1	86	c.16C>T	c.(16-18)Cca>Tca	p.P6S	PRKRIP1_ENST00000496391.1_5'UTR|RP11-163E9.2_ENST00000492837.1_RNA|PRKRIP1_ENST00000482465.1_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	14	28	0	146	0	Interaction with EIF2AK2 (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						AGGTGAATTTCCATGTCAACA	0.423000													0	0	0	1	0	1	0.999962	15	28	0	73	1	9.999543e-01	18	24	0	73	1
ORAI2	80228	broad.mit.edu	37	7	102087367	102087367	+	Silent	SNP	C	C	T	rs144660402		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:102087367C>T	ENST00000356387.2	+	4	868	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000478730.1_Silent_p.F211F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	14	37	0	58	211						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCCTCATCTTCGTGGTCTTCA	0.667000													1	1	1	1	1	1	0.999891	14	38	0	61	1	9.999984e-01	42	43	0	61	5
KMT2E	55904	broad.mit.edu	37	7	104746064	104746064	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:104746064G>T	ENST00000334877.4	+	18	2909	c.2375G>T	c.(2374-2376)aGa>aTa	p.R792I	KMT2E_ENST00000311117.3_Missense_Mutation_p.R792I|KMT2E_ENST00000257745.4_Missense_Mutation_p.R792I|KMT2E_ENST00000334914.7_5'UTR					lysine (K)-specific methyltransferase 2E	11	82	0	104									p.R792K(1)									CATTATATTAGATTTACTTCA	0.368000													1	1	1	1	1	1	0.998669	11	84	0	115	0	4.399860e-01	0	12	0	115	5
CDHR3	222256	broad.mit.edu	37	7	105672986	105672986	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:105672986G>A	ENST00000542731.1	+	19	2609	c.2501G>A	c.(2500-2502)aGa>aAa	p.R834K	CDHR3_ENST00000343407.5_3'UTR|CDHR3_ENST00000317716.9_Missense_Mutation_p.R834K|CDHR3_ENST00000478080.1_Missense_Mutation_p.R746K			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	24	46	0	51	834					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GGGTCACTGAGAAGTGCCAAC	0.562000													1	1	1	1	1	1	1.000000	25	48	0	61	0	1.231579e-01	1	1	0	61	5
LAMB1	3912	broad.mit.edu	37	7	107635333	107635333	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:107635333T>G	ENST00000393561.1	-	3	678	c.495_splice	c.e3+1	p.K165_splice	LAMB1_ENST00000393560.1_Splice_Site_p.K141_splice|LAMB1_ENST00000222399.6_Splice_Site_p.K141_splice			P07942	LAMB1_HUMAN	laminin, beta 1	5	9	0	21	141	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			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTTCTTACCTTGAAAGTCAT	0.358000													1	0	1	1	1	1	0.949969	5	10	0	25	1	9.996602e-01	25	30	0	25	4
LAMB4	22798	broad.mit.edu	37	7	107669496	107669496	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:107669496C>T	ENST00000388781.3	-	33	5221	c.5138G>A	c.(5137-5139)aGa>aAa	p.R1713K	LAMB4_ENST00000483484.1_5'UTR|LAMB4_ENST00000388780.3_Missense_Mutation_p.R1713K|LAMB4_ENST00000205386.4_Missense_Mutation_p.R1713K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	7	25	0	25	1713	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ACCTGTTATTCTTCTTATCTT	0.368000													1	1	0	1	1	1	0.984634	7	27	0	25	0	5.405405e-02	0	2	0	25	4
NRCAM	4897	broad.mit.edu	37	7	107832197	107832197	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:107832197C>T	ENST00000379028.3	-	18	2349	c.1879G>A	c.(1879-1881)Gcc>Acc	p.A627T	NRCAM_ENST00000425651.2_Missense_Mutation_p.A627T|NRCAM_ENST00000379024.4_Missense_Mutation_p.A608T|NRCAM_ENST00000351718.4_Missense_Mutation_p.A621T|NRCAM_ENST00000379022.4_Missense_Mutation_p.A627T|NRCAM_ENST00000413765.2_Missense_Mutation_p.A608T			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	12	31	0	49	627	Ig-like 6.				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			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACAGCGCTGGCGGAGACGCTG	0.453000													1	1	1	1	1	1	0.999533	12	35	0	51	0	7.428571e-02	0	2	0	51	5
DNAJB9	4189	broad.mit.edu	37	7	108212299	108212299	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:108212299G>T	ENST00000249356.3	+	2	675	c.129G>T	c.(127-129)aaG>aaT	p.K43N	DNAJB9_ENST00000465725.1_3'UTR	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	46	87	0	133	43	J.				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						GCCAAATCAAGAAGGCCTTTC	0.398000													1	1	1	1	1	1	1.000000	51	107	0	150	1	9.999998e-01	28	29	0	150	5
DOCK4	9732	broad.mit.edu	37	7	111418353	111418353	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111418353G>T	ENST00000428084.1	-	36	3930	c.3658C>A	c.(3658-3660)Ctc>Atc	p.L1220I	DOCK4_ENST00000437633.1_Missense_Mutation_p.L1211I|DOCK4_ENST00000494651.2_Missense_Mutation_p.L94I			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	21	41	0	77	1211	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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGTGCTTTGAGATGCAGATCA	0.368000													1	1	1	1	1	1	1.000000	25	46	0	88	1	8.258498e-01	3	5	0	88	5
DOCK4	9732	broad.mit.edu	37	7	111541793	111541793	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111541793G>A	ENST00000428084.1	-	14	1529	c.1257C>T	c.(1255-1257)agC>agT	p.S419S	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Silent_p.S419S			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	8	25	0	24	419	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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTCTGGCCACGCTCTTCCCTC	0.363000													1	1	1	1	1	1	0.996236	9	27	0	25	0	0	0	1	0	25	5
DOCK4	9732	broad.mit.edu	37	7	111584871	111584871	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111584871C>T	ENST00000428084.1	-	10	1111	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.R280Q			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	6	24	0	37	280					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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCTACCGATTCGGATAATGTG	0.418000													1	0	1	1	1	1	0.970343	6	25	0	39	0	0	1	0	0	39	4
ZNF277	11179	broad.mit.edu	37	7	111976201	111976201	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111976201C>T	ENST00000361822.3	+	8	973	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	AC004112.4_ENST00000431064.1_RNA	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	13	39	0	78	282						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGAAGATGATCGGGAGTTGCT	0.413000													1	0	1	1	0	1	0.999945	15	43	0	91	1	9.999992e-01	41	52	0	91	3
C7orf60	154743	broad.mit.edu	37	7	112461939	112461939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:112461939G>A	ENST00000297145.4	-	5	1243	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	9	32	0	43	360										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						atatctGATCGAACATAGCAG	0.398000													1	1	1	1	1	1	0.995997	9	32	0	43	0	2.379508e-01	0	4	0	43	5
GPR85	0	broad.mit.edu	37	7	112724250	112724250	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:112724250T>C	ENST00000501255.2	-	3	1150	c.527A>G	c.(526-528)cAc>cGc	p.H176R	GPR85_ENST00000449591.1_Missense_Mutation_p.H176R|GPR85_ENST00000424100.1_Missense_Mutation_p.H176R|GPR85_ENST00000297146.2_Missense_Mutation_p.H176R	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	20	52	0	112	176						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GAAGGAGCGGTGTTGGAAGGT	0.483000													1	1	1	1	1	1	1.000000	22	59	0	122	0	0	0	0	0	122	5
PPP1R3A	5506	broad.mit.edu	37	7	113519003	113519003	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:113519003G>T	ENST00000284601.3	-	4	2212	c.2144C>A	c.(2143-2145)tCt>tAt	p.S715Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	37	84	0	125	715					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATCAGCTAGAGAAGACAGTTC	0.408000													1	1	1	1	1	1	1.000000	37	86	0	135	0	0	0	0	0	135	5
PPP1R3A	5506	broad.mit.edu	37	7	113519436	113519436	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:113519436C>T	ENST00000284601.3	-	4	1779	c.1711G>A	c.(1711-1713)Gca>Aca	p.A571T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	37	50	1	83	571					glycogen metabolic process	integral to membrane		p.A571T(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTGGGGATTGCGGTATGTTCG	0.473000													1	0	1	1	1	1	1.000000	39	53	1	87	0	0	0	0	1	87	4
FOXP2	93986	broad.mit.edu	37	7	114282503	114282503	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:114282503G>T	ENST00000393500.3	+	13	1409	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	FOXP2_ENST00000350908.4_Nonsense_Mutation_p.E272*|FOXP2_ENST00000378237.3_Nonsense_Mutation_p.E272*|FOXP2_ENST00000393494.2_Nonsense_Mutation_p.E272*|FOXP2_ENST00000408937.3_Nonsense_Mutation_p.E297*|FOXP2_ENST00000390668.3_Nonsense_Mutation_p.E296*|FOXP2_ENST00000403559.4_Nonsense_Mutation_p.E289*|FOXP2_ENST00000393489.3_Nonsense_Mutation_p.E180*|FOXP2_ENST00000393491.3_Nonsense_Mutation_p.E180*|FOXP2_ENST00000360232.4_Nonsense_Mutation_p.E272*|FOXP2_ENST00000393498.2_Nonsense_Mutation_p.E251*			O15409	FOXP2_HUMAN	forkhead box P2	23	32	0	44	272	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			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GTTATGGAAAGAAGTGACTGG	0.408000													1	1	1	1	1	1	1.000000	23	32	0	49	0	0	0	0	0	49	5
CAV2	858	broad.mit.edu	37	7	116140470	116140470	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:116140470C>A	ENST00000222693.4	+	2	699	c.307C>A	c.(307-309)Ctc>Atc	p.L103I	CAV2_ENST00000393480.2_Missense_Mutation_p.L103I|CAV2_ENST00000462876.1_3'UTR|CAV2_ENST00000343213.2_Intron	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2	26	62	0	100	103					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	p.L103F(1)		large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			TGCGGGAATTCTCTTTGCCAC	0.552000													1	1	1	1	1	1	1.000000	29	67	0	115	1	1	38	66	0	115	5
MET	0	broad.mit.edu	37	7	116371750	116371750	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:116371750A>G	ENST00000397752.3	+	3	1429	c.1229A>G	c.(1228-1230)gAa>gGa	p.E410G	MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Missense_Mutation_p.E410G|MET_ENST00000436117.2_Missense_Mutation_p.E410G	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	16	27	0	47	410	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	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)			TCAGGCTGTGAAGCGCGCCGT	0.418000			Mis		papillary renal, head-neck squamous cell	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				1	1	1	1	1	1	0.999983	16	28	0	51	1	9.972254e-01	7	15	0	51	5
ASZ1	136991	broad.mit.edu	37	7	117024855	117024855	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:117024855A>G	ENST00000284629.2	-	6	674	c.612T>C	c.(610-612)ctT>ctC	p.L204L		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	22	46	0	53	204					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TATTAGCTCCAAGTTCAAGCA	0.368000													1	1	1	1	1	1	1.000000	22	47	0	54	0	0	0	0	0	54	5
CFTR	1080	broad.mit.edu	37	7	117230480	117230480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:117230480G>T	ENST00000003084.6	+	13	1885	c.1753G>T	c.(1753-1755)Gaa>Taa	p.E585*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.E524*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	16	24	0	36	585	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			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AACAGAAAAAGAAATATTTGA	0.289000									Cystic Fibrosis				1	1	1	1	1	1	0.999993	17	26	0	37	0	0	1	0	0	37	5
CTTNBP2	83992	broad.mit.edu	37	7	117417761	117417761	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:117417761A>C	ENST00000160373.3	-	8	2673	c.2582T>G	c.(2581-2583)cTt>cGt	p.L861R		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	22	43	0	63	861										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTACATAAGAAGCTTGAGGCT	0.458000													1	1	1	1	1	1	1.000000	22	44	0	64	1	4.159072e-01	3	1	0	64	5
KCND2	3751	broad.mit.edu	37	7	119914842	119914842	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:119914842C>T	ENST00000331113.4	+	1	1121	c.156C>T	c.(154-156)ttC>ttT	p.F52F		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	93	184	0	337	52					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCACCCGCTTCCAGACGTGGC	0.567000													1	1	1	1	1	1	1.000000	99	196	0	361	0	0	0	1	0	361	5
CPED1	79974	broad.mit.edu	37	7	120876773	120876773	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:120876773T>C	ENST00000310396.5	+	17	2528	c.2061T>C	c.(2059-2061)tgT>tgC	p.C687C	CPED1_ENST00000423795.1_Silent_p.C467C|CPED1_ENST00000450913.2_Silent_p.C687C	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1	15	51	0	69																		TGCAGGATTGTGGTTTGCTGA	0.318000													1	1	1	1	1	1	0.999931	15	59	0	80	0	2.863918e-01	0	5	0	80	5
CPED1	79974	broad.mit.edu	37	7	120884286	120884286	+	Missense_Mutation	SNP	C	C	T	rs148996529	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:120884286C>T	ENST00000310396.5	+	18	2671	c.2204C>T	c.(2203-2205)tCg>tTg	p.S735L	CPED1_ENST00000423795.1_Missense_Mutation_p.S515L|CPED1_ENST00000450913.2_Missense_Mutation_p.S735L	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1	29	65	0	93									p.S735L(1)									CTTAGTTGTTCGGACAACAGG	0.468000													1	1	1	1	1	1	1.000000	33	72	0	102	0	2.409090e-01	0	3	0	102	5
PTPRZ1	5803	broad.mit.edu	37	7	121651537	121651537	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:121651537T>C	ENST00000393386.2	+	12	2848	c.2437T>C	c.(2437-2439)Tcc>Ccc	p.S813P	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	71	103	0	154	813					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CATCCTGTCTTCCTATGATGG	0.458000													1	1	1	1	1	1	1.000000	79	111	0	165	0	0	0	0	0	165	5
IQUB	154865	broad.mit.edu	37	7	123104994	123104994	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:123104994C>A	ENST00000466202.1	-	10	2227	c.1651G>T	c.(1651-1653)Gga>Tga	p.G551*	IQUB_ENST00000434450.1_Nonsense_Mutation_p.G551*|IQUB_ENST00000324698.6_Nonsense_Mutation_p.G551*			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	27	60	0	88	551										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGTTTGACTCCTCTCATCATA	0.313000													1	0	1	1	1	1	1.000000	33	67	0	99	0	0	0	1	0	99	4
WASL	8976	broad.mit.edu	37	7	123332489	123332489	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:123332489T>G	ENST00000223023.4	-	9	1591	c.1259A>C	c.(1258-1260)aAa>aCa	p.K420T		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	24	37	0	69	420	WH2 1.				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			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCCACTTTTTTTAGCTGAGC	0.493000													1	1	1	1	1	1	1.000000	27	37	0	72	1	9.999943e-01	16	18	0	72	5
GPR37	2861	broad.mit.edu	37	7	124404113	124404113	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:124404113C>A	ENST00000303921.2	-	1	1568	c.918G>T	c.(916-918)tgG>tgT	p.W306C		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	25	116	1	141	306						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAGAAAGTCCCAGAAGGCCA	0.552000													1	0	1	1	1	1	0.999975	26	118	1	141	1	9.545009e-01	15	20	1	141	4
GRM8	0	broad.mit.edu	37	7	126544109	126544109	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:126544109C>A	ENST00000339582.2	-	5	1743	c.935G>T	c.(934-936)gGa>gTa	p.G312V	GRM8_ENST00000358373.3_Missense_Mutation_p.G312V|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.G312V|GRM8_ENST00000405249.1_Missense_Mutation_p.G312V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	19	44	0	104	312					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TATTTTGGATCCCCAACTATC	0.403000										HNSCC(24;0.065)			1	1	1	1	1	1	0.999997	19	50	0	93	0	0	0	0	0	93	5
FSCN3	29999	broad.mit.edu	37	7	127236471	127236471	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:127236471C>T	ENST00000265825.5	+	3	1150	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	FSCN3_ENST00000420086.2_Missense_Mutation_p.R177C	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	49	102	0	183	311						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGTGCAGCTTCGTTCAGCCAA	0.522000													1	0	1	1	1	1	1.000000	53	115	0	210	0	0	0	0	0	210	4
SND1	27044	broad.mit.edu	37	7	127721475	127721475	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:127721475C>T	ENST00000354725.3	+	18	2226	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	13	18	0	39	678					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			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GGAGAAGGAGCGATCTGCTAG	0.592000													1	1	1	1	1	1	0.999940	14	20	0	44	1	1	8	280	0	44	5
SND1	27044	broad.mit.edu	37	7	127726997	127726997	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:127726997T>C	ENST00000354725.3	+	21	2506	c.2312T>C	c.(2311-2313)gTc>gCc	p.V771A		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	8	81	0	97	771	Tudor.				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			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CAGAGAGAGGTCCTGCCATCC	0.617000													1	1	1	1	0	1	0.990381	8	88	0	103	1	9.999385e-01	3	249	0	103	4
FAM71F2	346653	broad.mit.edu	37	7	128317859	128317859	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:128317859G>A	ENST00000480462.1	+	3	713	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	FAM71F2_ENST00000378704.3_Missense_Mutation_p.E194K|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Intron			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	11	24	0	24	203										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CAACTCCACAGAAACAACAGT	0.438000													1	1	1	1	1	1	0.999206	11	24	0	24	0	0	0	0	0	24	5
OPN1SW	611	broad.mit.edu	37	7	128415645	128415645	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:128415645T>C	ENST00000249389.2	-	1	199	c.200A>G	c.(199-201)cAg>cGg	p.Q67R		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	52	118	0	163	67					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						GTTGAGGGGCTGCCGCAACTT	0.537000													1	1	1	1	1	1	1.000000	54	124	0	173	0	0	0	0	0	173	5
AHCYL2	23382	broad.mit.edu	37	7	129045047	129045047	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:129045047C>A	ENST00000325006.3	+	8	1189	c.1135C>A	c.(1135-1137)Ctt>Att	p.L379I	AHCYL2_ENST00000474594.1_Missense_Mutation_p.L276I|AHCYL2_ENST00000531335.2_Missense_Mutation_p.L298I|AHCYL2_ENST00000446212.1_Missense_Mutation_p.L277I|AHCYL2_ENST00000446544.2_Missense_Mutation_p.L378I|AHCYL2_ENST00000490911.1_Missense_Mutation_p.L276I	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	25	128	0	110	379					one-carbon metabolic process		adenosylhomocysteinase activity	p.L379I(1)|p.L276I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TGAATCAATTCTTGATGGGTA	0.393000													1	1	1	1	1	1	1.000000	27	143	0	122	0	1.906830e-01	0	5	0	122	5
STRIP2	57464	broad.mit.edu	37	7	129100195	129100195	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:129100195G>T	ENST00000249344.2	+	13	1498	c.1458G>T	c.(1456-1458)gaG>gaT	p.E486D	STRIP2_ENST00000435494.2_Missense_Mutation_p.E486D	NM_020704.2	NP_065755.1			striatin interacting protein 2	7	17	0	16																		AGGAGCTGGAGAAGTGCCCTA	0.473000													1	0	1	1	1	1	0.986135	7	18	0	17	0	9.523810e-02	1	1	0	17	4
PLXNA4	91584	broad.mit.edu	37	7	131866291	131866291	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:131866291C>T	ENST00000359827.3	-	18	4303	c.3341G>A	c.(3340-3342)aGg>aAg	p.R1114K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1114K			Q9HCM2	PLXA4_HUMAN	plexin A4	32	70	0	114	1114	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCCTCGGGCCTCTCGGTCAG	0.577000													1	1	1	1	1	1	1.000000	33	74	0	124	0	0	0	0	0	124	5
PLXNA4	91584	broad.mit.edu	37	7	131872281	131872281	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:131872281G>A	ENST00000359827.3	-	15	3904	c.2942C>T	c.(2941-2943)gCc>gTc	p.A981V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A981V			Q9HCM2	PLXA4_HUMAN	plexin A4	24	271	0	388	981	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTGCTTCCGGCATTCAGGTT	0.562000													1	1	1	1	0	1	1.000000	28	291	0	403	0	0	0	1	0	403	4
PLXNA4	91584	broad.mit.edu	37	7	131912214	131912214	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:131912214C>A	ENST00000359827.3	-	7	2840	c.1878G>T	c.(1876-1878)gaG>gaT	p.E626D	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E626D			Q9HCM2	PLXA4_HUMAN	plexin A4	8	22	0	20	626						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTCACCATTCTCTGTGATGA	0.572000													1	1	1	1	1	1	0.992692	8	23	0	21	0	0	0	0	0	21	5
CNOT4	4850	broad.mit.edu	37	7	135078870	135078870	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:135078870A>G	ENST00000428680.2	-	10	1697	c.1418T>C	c.(1417-1419)tTc>tCc	p.F473S	CNOT4_ENST00000423368.2_Missense_Mutation_p.F476S|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000451834.1_Missense_Mutation_p.F473S|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000315544.5_Missense_Mutation_p.F476S|CNOT4_ENST00000361528.4_Missense_Mutation_p.F473S|CNOT4_ENST00000541284.1_Missense_Mutation_p.F476S	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	30	52	0	108	476					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			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AAATTGAGGGAACCTCTGGGG	0.502000													1	1	1	1	1	1	1.000000	30	55	0	113	1	9.947704e-01	14	5	0	113	5
CHRM2	1129	broad.mit.edu	37	7	136700079	136700079	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:136700079C>T	ENST00000445907.2	+	3	995	c.467C>T	c.(466-468)gCt>gTt	p.A156V	AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.A156V|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.A156V|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.A156V|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.A156V|CHRM2_ENST00000402486.3_Missense_Mutation_p.A156V	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	6	97	0	95	156					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			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|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)	ATCCTCTGGGCTCCAGCCATT	0.498000													1	0	1	0	0	1	0.966352	6	102	0	105	0	0	0	0	0	105	2
SVOPL	136306	broad.mit.edu	37	7	138329467	138329467	+	Missense_Mutation	SNP	C	C	T	rs143599875		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:138329467C>T	ENST00000421622.1	-	5	632	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	SVOPL_ENST00000419765.3_Missense_Mutation_p.V262I|SVOPL_ENST00000288513.5_Missense_Mutation_p.V110I|SVOPL_ENST00000436657.1_Missense_Mutation_p.V110I			Q8N434	SVOPL_HUMAN	SVOP-like	16	49	0	53	262						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCACCAGGACGGGCTCCACC	0.637000													1	1	1	1	1	1	0.999986	17	50	0	57	0	0	0	0	0	57	5
KIAA1549	57670	broad.mit.edu	37	7	138601497	138601497	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:138601497T>G	ENST00000440172.1	-	2	2923	c.2875A>C	c.(2875-2877)Act>Cct	p.T959P	KIAA1549_ENST00000242365.4_Missense_Mutation_p.T909P|KIAA1549_ENST00000422774.1_Missense_Mutation_p.T959P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	8	26	0	33	959						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCCTTACCAGTTGTGATCAGA	0.537000			O	BRAF	pilocytic astrocytoma								1	1	1	1	1	1	0.996236	9	27	0	33	0	5.705884e-01	0	7	0	33	5
TTC26	79989	broad.mit.edu	37	7	138845780	138845780	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:138845780T>G	ENST00000474035.2	+	8	884	c.804T>G	c.(802-804)gaT>gaG	p.D268E	TTC26_ENST00000478836.2_Intron|TTC26_ENST00000481482.1_Intron|TTC26_ENST00000464848.1_Intron|TTC26_ENST00000343187.4_Intron|TTC26_ENST00000430935.1_Intron|TTC26_ENST00000495038.1_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	7	15	0	17	384							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TGAATAACGATTTCCCGTCTT	0.393000													1	0	1	1	1	1	0.986626	7	16	0	19	1	8.923645e-01	11	1	0	19	4
ADCK2	90956	broad.mit.edu	37	7	140380894	140380894	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:140380894A>C	ENST00000072869.4	+	4	1440	c.1262A>C	c.(1261-1263)aAa>aCa	p.K421T	ADCK2_ENST00000476491.1_Missense_Mutation_p.K421T	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	23	52	0	69	421	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GTGGACTTGAAAAGGAAGATT	0.562000													1	1	1	1	1	1	1.000000	24	63	0	77	1	9.999995e-01	39	37	0	77	5
MRPS33	51650	broad.mit.edu	37	7	140710232	140710232	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:140710232G>T	ENST00000393008.3	-	2	357	c.202C>A	c.(202-204)Ctt>Att	p.L68I	MRPS33_ENST00000467334.1_Missense_Mutation_p.L58I|MRPS33_ENST00000324787.5_Missense_Mutation_p.L68I|MRPS33_ENST00000496958.1_Missense_Mutation_p.L68I|MRPS33_ENST00000469351.1_Missense_Mutation_p.L68I	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	23	38	0	83	68					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					TAGAGTCCAAGAAATCGGAGC	0.413000													1	1	1	1	1	1	1.000000	28	44	0	96	1	1	67	83	0	96	5
AGK	55750	broad.mit.edu	37	7	141321537	141321537	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141321537T>G	ENST00000355413.4	+	9	784	c.524T>G	c.(523-525)aTt>aGt	p.I175S	AGK_ENST00000473247.1_Missense_Mutation_p.I147S|AGK_ENST00000535825.1_Missense_Mutation_p.I172S	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	3	38	0	57	175	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TTTAGACATATTACTGATGCC	0.388000													0	0	1	0	0	1	0.812618	3	42	0	67	1	6.877151e-01	7	25	0	67	1
TAS2R3	50831	broad.mit.edu	37	7	141464029	141464029	+	Missense_Mutation	SNP	A	A	C	rs146979075	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141464029A>C	ENST00000247879.2	+	1	133	c.71A>C	c.(70-72)aAt>aCt	p.N24T	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	54	114	0	179	24					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					ATTCTGGTCAATTGTTTCATT	0.473000													1	1	1	1	1	1	1.000000	57	123	0	202	0	0	0	0	0	202	5
CLEC5A	23601	broad.mit.edu	37	7	141631561	141631561	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141631561C>A	ENST00000546910.1	-	6	607	c.411G>T	c.(409-411)gaG>gaT	p.E137D	CLEC5A_ENST00000551012.2_Missense_Mutation_p.E114D|CLEC5A_ENST00000470595.1_5'UTR|CLEC5A_ENST00000439991.1_Missense_Mutation_p.E33D|MGAM_ENST00000497554.1_3'UTR|CLEC5A_ENST00000438351.1_Missense_Mutation_p.E114D	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	35	66	0	108	137	C-type lectin.				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			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GCCACCTTTTCTCTTCACGAT	0.388000													1	1	1	1	1	1	1.000000	41	77	0	132	0	8.698461e-01	0	9	0	132	5
MGAM	8972	broad.mit.edu	37	7	141705362	141705362	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141705362C>A	ENST00000475668.2	+	2	86	c.32C>A	c.(31-33)aCt>aAt	p.T11N	MGAM_ENST00000549489.2_Missense_Mutation_p.T11N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	5	4	0	8	11					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AAATTTACTACTTTGGAGATT	0.299000													0	0	1	1	0	1	0.979771	6	6	0	8	0	0	0	0	0	8	2
MGAM	8972	broad.mit.edu	37	7	141727464	141727464	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:141727464C>T	ENST00000475668.2	+	10	1204	c.1150C>T	c.(1150-1152)Cgt>Tgt	p.R384C	MGAM_ENST00000549489.2_Missense_Mutation_p.R384C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	12	17	0	42	384	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCACCTCAGTCGTTACGAATA	0.453000													1	1	1	1	1	1	0.999937	14	21	0	47	0	0	0	0	0	47	5
KEL	3792	broad.mit.edu	37	7	142651036	142651036	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:142651036G>A	ENST00000355265.2	-	9	1406	c.932C>T	c.(931-933)gCc>gTc	p.A311V	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	32	66	0	107	311					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GATGGCGGGGGCCATTTCCTT	0.527000													1	1	1	1	1	1	1.000000	32	69	0	113	0	0	1	0	0	113	5
EPHA1	2041	broad.mit.edu	37	7	143098425	143098425	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:143098425A>G	ENST00000275815.3	-	3	510	c.424T>C	c.(424-426)Ttc>Ctc	p.F142L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	42	78	0	168	142						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ACCTTCTGGAACAAGGGCCGT	0.592000													1	1	1	1	1	1	1.000000	44	85	0	177	1	9.998186e-01	16	14	0	177	5
OR6B1	135946	broad.mit.edu	37	7	143701692	143701692	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:143701692C>A	ENST00000408922.2	+	1	671	c.603C>A	c.(601-603)atC>atA	p.I201I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	25	92	0	112	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TAGACTTTATCCTGGCACTGG	0.458000													1	1	1	1	1	1	1.000000	26	99	0	125	0	0	0	0	0	125	5
OR2A2	442361	broad.mit.edu	37	7	143807156	143807156	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:143807156C>A	ENST00000408979.2	+	1	550	c.481C>A	c.(481-483)Ctc>Atc	p.L161I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	33	59	0	109	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					ACATGAAATTCTCCTTCTAAG	0.532000													1	1	1	1	1	1	1.000000	33	59	0	115	0	0	0	0	0	115	5
ARHGEF5	7984	broad.mit.edu	37	7	144060321	144060321	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:144060321G>A	ENST00000056217.5	+	2	733	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	40	117	0	275	187					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTCTCCCTGCGAAGAGCATCC	0.507000													1	0	1	1	0	1	1.000000	40	123	0	199	1	2.604331e-01	2	2	0	199	3
ARHGEF5	7984	broad.mit.edu	37	7	144075919	144075919	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:144075919G>T	ENST00000056217.5	+	14	4770	c.4596G>T	c.(4594-4596)gaG>gaT	p.E1532D	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E454D	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	67	138	0	260	1532	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGGCACTGGAGAAAGCCGACG	0.577000													1	1	1	1	1	1	1.000000	75	150	0	275	1	1	29	52	0	275	5
CNTNAP2	26047	broad.mit.edu	37	7	146818172	146818172	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:146818172C>A	ENST00000361727.3	+	6	1372	c.856C>A	c.(856-858)Cgg>Agg	p.R286R		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	15	56	0	73	286	Laminin G-like 1.				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			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	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)			GCGCCAGGGGCGGAGCATTAA	0.522000										HNSCC(39;0.1)			1	1	1	1	1	1	0.999929	15	61	0	79	0	0	0	0	0	79	5
CNTNAP2	26047	broad.mit.edu	37	7	147869473	147869473	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:147869473A>C	ENST00000361727.3	+	18	3429	c.2913A>C	c.(2911-2913)ggA>ggC	p.G971G	CNTNAP2_ENST00000538075.1_Silent_p.G30G	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	25	57	0	86	971	EGF-like 2.				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			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	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)			CCAGCTATGGAACAAACTGTG	0.473000										HNSCC(39;0.1)			1	1	1	1	1	1	1.000000	25	61	0	89	0	0	0	0	0	89	5
EZH2	0	broad.mit.edu	37	7	148543633	148543633	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:148543633C>A	ENST00000320356.2	-	3	296	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	EZH2_ENST00000460911.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000483967.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000476773.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000541220.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000350995.2_Nonsense_Mutation_p.E59*|EZH2_ENST00000478654.1_Nonsense_Mutation_p.E59*|EZH2_ENST00000536783.1_5'UTR	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	21	29	0	49	59	Interaction with DNMT1, DNMT3A and DNMT3B.|Interaction with EED (By similarity).				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			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TGTTTCCATTCTTGGTTTAAG	0.383000			Mis		DLBCL								1	1	1	1	1	1	1.000000	23	30	0	53	1	9.962629e-01	2	14	0	53	5
ZNF212	7988	broad.mit.edu	37	7	148947339	148947339	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:148947339G>A	ENST00000335870.2	+	2	242	c.114G>A	c.(112-114)gaG>gaA	p.E38E		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	24	30	0	44	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AGACCACCGAGATTTCACTCT	0.542000													1	1	1	1	1	1	1.000000	26	31	0	45	1	9.919790e-01	7	6	0	45	5
GIMAP8	155038	broad.mit.edu	37	7	150164222	150164222	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150164222G>T	ENST00000307271.3	+	2	1010	c.436G>T	c.(436-438)Gat>Tat	p.D146Y		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	24	44	0	73	146						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTTGCTGCAAGATTTCATTGA	0.438000													1	1	1	1	1	1	1.000000	25	47	0	74	0	4.387689e-01	0	4	0	74	5
GIMAP7	168537	broad.mit.edu	37	7	150217465	150217465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150217465G>T	ENST00000313543.4	+	2	560	c.403G>T	c.(403-405)Gaa>Taa	p.E135*		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	12	47	0	56	135							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACTCGCAAAGAAGAGTTGGA	0.527000													1	1	1	1	1	1	0.999731	13	49	0	62	0	7.859076e-01	0	13	0	62	5
NOS3	4846	broad.mit.edu	37	7	150692348	150692348	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150692348G>T	ENST00000297494.3	+	3	573	c.216G>T	c.(214-216)aaG>aaT	p.K72N	NOS3_ENST00000467517.1_Missense_Mutation_p.K72N|NOS3_ENST00000461406.1_5'UTR|NOS3_ENST00000484524.1_Missense_Mutation_p.K72N	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	12	29	0	37	72					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			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	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)	CTCGTGTGAAGAACTGGGAGG	0.642000													1	1	1	1	1	1	0.999785	13	34	0	42	0	2.033613e-01	1	2	0	42	5
NOS3	4846	broad.mit.edu	37	7	150698909	150698909	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:150698909C>T	ENST00000297494.3	+	13	1860	c.1502_splice	c.e13-1	p.N501_splice	NOS3_ENST00000467517.1_Splice_Site_p.N501_splice|NOS3_ENST00000461406.1_Splice_Site_p.N295_splice|NOS3_ENST00000484524.1_Splice_Site_p.N501_splice	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	19	22	0	59	501	Calmodulin-binding (Potential).				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			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	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)	TCTCCCGCAGCGCCGTGAAGA	0.642000													1	1	1	1	1	1	1.000000	20	24	0	65	0	9.905413e-01	0	13	0	65	5
KMT2C	58508	broad.mit.edu	37	7	151873887	151873887	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151873887C>T	ENST00000355193.2	-	38	8869	c.8651G>A	c.(8650-8652)cGa>cAa	p.R2884Q	KMT2C_ENST00000262189.6_Missense_Mutation_p.R2884Q					lysine (K)-specific methyltransferase 2C	18	37	0	44																		AGCAGTTTCTCGATTGGTTCT	0.438000													1	1	1	1	1	1	0.999995	18	38	0	44	0	0	0	1	0	44	5
KMT2C	58508	broad.mit.edu	37	7	151945099	151945099	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151945099G>T	ENST00000355193.2	-	14	2638	c.2420C>A	c.(2419-2421)tCt>tAt	p.S807Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.S807Y					lysine (K)-specific methyltransferase 2C	38	405	1	357																		GTTTCCAGCAGAGGAACTAAG	0.443000													1	0	1	1	0	1	1.000000	44	457	1	397	0	0	0	1	1	397	3
KMT2C	58508	broad.mit.edu	37	7	151945640	151945640	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151945640C>A	ENST00000355193.2	-	14	2097	c.1879G>T	c.(1879-1881)Gac>Tac	p.D627Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.D627Y					lysine (K)-specific methyltransferase 2C	4	33	0	32																		ATTTTCAGGTCTTCACTATCA	0.338000													0	0	1	0	1	1	0.893960	4	34	0	34	0	0	0	1	0	34	2
KMT2C	58508	broad.mit.edu	37	7	151970902	151970902	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:151970902C>A	ENST00000355193.2	-	7	1118	c.900G>T	c.(898-900)gaG>gaT	p.E300D	KMT2C_ENST00000262189.6_Missense_Mutation_p.E300D					lysine (K)-specific methyltransferase 2C	14	93	0	84																		GGGTACATTTCTCTTCACAGC	0.428000													1	1	1	1	0	1	0.999910	15	99	0	74	0	0	0	1	0	74	4
XRCC2	7516	broad.mit.edu	37	7	152346402	152346402	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:152346402T>G	ENST00000359321.1	-	3	253	c.168A>C	c.(166-168)gaA>gaC	p.E56D	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	25	36	0	39	56					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GATAAAGCATTTCTGTTTTTC	0.373000								Homologous recombination					1	1	1	1	1	1	1.000000	26	37	0	40	1	8.474124e-01	3	4	0	40	5
DPP6	1804	broad.mit.edu	37	7	154667694	154667694	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:154667694C>T	ENST00000404039.1	+	20	2357	c.1770C>T	c.(1768-1770)ggC>ggT	p.G590G	DPP6_ENST00000427557.1_Silent_p.G547G|DPP6_ENST00000377770.3_Silent_p.G654G|DPP6_ENST00000332007.3_Silent_p.G592G	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	13	23	0	29	654					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	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)			GCAGCCACGGCGCGGTGGTGG	0.647000													1	1	1	1	1	1	0.999842	13	23	0	31	0	3.117409e-01	0	3	0	31	5
RNF32	140545	broad.mit.edu	37	7	156450909	156450909	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:156450909G>A	ENST00000392741.2	+	5	626	c.538G>A	c.(538-540)Gat>Aat	p.D180N	RNF32_ENST00000317955.5_Missense_Mutation_p.D180N|RNF32_ENST00000311822.8_Missense_Mutation_p.D180N|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000432459.2_Missense_Mutation_p.D180N|RNF32_ENST00000405335.1_Missense_Mutation_p.D180N|RNF32_ENST00000392743.2_Missense_Mutation_p.D180N|RNF32_ENST00000343665.4_Missense_Mutation_p.D156N			Q9H0A6	RNF32_HUMAN	ring finger protein 32	17	33	0	40	180						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AGTGATACACGATGGGGCCCG	0.473000													1	1	1	1	1	1	0.999999	20	38	0	44	0	4.362771e-01	1	3	0	44	5
RNF32	140545	broad.mit.edu	37	7	156451252	156451252	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:156451252C>A	ENST00000392741.2	+	6	760	c.672C>A	c.(670-672)ttC>ttA	p.F224L	RNF32_ENST00000317955.5_Missense_Mutation_p.F224L|RNF32_ENST00000311822.8_Missense_Mutation_p.F224L|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000432459.2_Missense_Mutation_p.F224L|RNF32_ENST00000405335.1_Missense_Mutation_p.F224L|RNF32_ENST00000392743.2_Missense_Mutation_p.F224L|RNF32_ENST00000343665.4_Missense_Mutation_p.F200L			Q9H0A6	RNF32_HUMAN	ring finger protein 32	14	25	0	32	224						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAAAAAATTCTTTGAAAAAA	0.423000													1	1	1	1	1	1	0.999965	15	26	0	35	0	7.046193e-01	1	5	0	35	5
CSMD1	64478	broad.mit.edu	37	8	2796122	2796122	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:2796122G>T	ENST00000602557.1	-	71	11238	c.10683C>A	c.(10681-10683)gtC>gtA	p.V3561V	CSMD1_ENST00000542608.1_Silent_p.V3383V|CSMD1_ENST00000602723.1_Silent_p.V3384V|CSMD1_ENST00000537824.1_Silent_p.V3560V|CSMD1_ENST00000520002.1_Silent_p.V3561V|CSMD1_ENST00000400186.3_Silent_p.V3384V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3	14	0	17	3561						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)		CCACTGTACAGACTGTGTTCA	0.468000													1	0	1	1	1	1	0.897050	4	17	0	21	0	0	0	0	0	21	4
MCPH1	79648	broad.mit.edu	37	8	6302632	6302632	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:6302632C>T	ENST00000344683.5	+	8	1465	c.1389C>T	c.(1387-1389)tgC>tgT	p.C463C	MCPH1_ENST00000519480.1_Silent_p.C463C|MCPH1_ENST00000522905.1_Silent_p.C415C	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	23	40	0	49	463						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATTTTTCCTGCGTTGGCAAAA	0.443000													1	1	1	1	1	1	1.000000	26	41	0	52	1	9.999595e-01	16	17	0	52	5
ERI1	90459	broad.mit.edu	37	8	8873895	8873895	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:8873895A>G	ENST00000523898.1	+	5	1241	c.562A>G	c.(562-564)Agt>Ggt	p.S188G	ERI1_ENST00000519292.1_Missense_Mutation_p.S188G|ERI1_ENST00000250263.7_Missense_Mutation_p.S188G|ERI1_ENST00000520332.1_3'UTR			Q8IV48	ERI1_HUMAN	exoribonuclease 1	22	41	0	86	188	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	TTTCTGCATCAGTCTAACTGG	0.318000													1	1	1	1	1	1	1.000000	22	44	0	98	1	9.991912e-01	16	12	0	98	5
GATA4	2626	broad.mit.edu	37	8	11614543	11614543	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:11614543C>T	ENST00000335135.4	+	6	1655	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	GATA4_ENST00000528712.1_Missense_Mutation_p.T160M|GATA4_ENST00000532059.1_Missense_Mutation_p.T367M	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	39	76	0	107	366					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	p.T366K(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CCCATCAAGACGGAGCCTGGC	0.657000													1	1	1	1	1	1	1.000000	44	86	0	132	1	9.238381e-01	3	8	0	132	5
LONRF1	91694	broad.mit.edu	37	8	12594474	12594474	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:12594474A>C	ENST00000398246.3	-	5	1358	c.1289T>G	c.(1288-1290)tTg>tGg	p.L430W	LONRF1_ENST00000533751.1_Missense_Mutation_p.L73W	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	4	45	0	38	430					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TAAAAGAGACAACTTTCTTTT	0.338000													0	0	1	0	0	1	0.893113	4	46	0	38	1	2.525929e-01	2	8	0	38	1
KIAA1456	57604	broad.mit.edu	37	8	12878856	12878856	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:12878856G>A	ENST00000524591.2	+	5	1157	c.668G>A	c.(667-669)aGa>aAa	p.R223K	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	25	70	0	90	223							methyltransferase activity	p.R223I(1)|p.R136I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GCTATGGCAAGAACCTGTTTT	0.428000													1	1	1	1	1	1	1.000000	26	72	0	92	0	0	0	0	0	92	5
TUSC3	7991	broad.mit.edu	37	8	15508212	15508212	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:15508212T>G	ENST00000382020.4	+	3	523	c.315T>G	c.(313-315)gcT>gcG	p.A105A	TUSC3_ENST00000503191.1_Intron|TUSC3_ENST00000509380.1_Silent_p.A105A|TUSC3_ENST00000503731.1_Silent_p.A105A|TUSC3_ENST00000506802.1_Silent_p.A105A	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	54	88	0	137	105					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TCAGGCAAGCTAATGAAGAAT	0.423000													1	1	1	1	1	1	1.000000	59	96	0	147	0	1	1	199	0	147	5
ZDHHC2	51201	broad.mit.edu	37	8	17074756	17074756	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:17074756G>T	ENST00000262096.8	+	12	1833		c.e12+1			NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	10	11	0	17							integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CTTTATAAAAGTACGATAATT	0.269000													1	0	1	1	1	1	0.999577	11	11	0	18	0	9.999984e-01	0	46	0	18	4
MTUS1	57509	broad.mit.edu	37	8	17507410	17507410	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:17507410A>C	ENST00000381869.3	-	12	3757	c.3284T>G	c.(3283-3285)aTc>aGc	p.I1095S	MTUS1_ENST00000519263.1_Missense_Mutation_p.I1095S|MTUS1_ENST00000400046.1_Missense_Mutation_p.I221S|MTUS1_ENST00000262102.6_Missense_Mutation_p.I1149S|MTUS1_ENST00000297488.6_Missense_Mutation_p.I315S|MTUS1_ENST00000381861.3_Missense_Mutation_p.I396S|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000544260.1_Missense_Mutation_p.I294S	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	29	56	0	75	1149						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTCATTCTTGATCTCTAACAC	0.378000													1	1	1	1	1	1	1.000000	29	59	0	76	1	9.998643e-01	10	24	0	76	5
MTUS1	57509	broad.mit.edu	37	8	17611644	17611644	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:17611644C>A	ENST00000381869.3	-	2	2146	c.1673G>T	c.(1672-1674)aGa>aTa	p.R558I	MTUS1_ENST00000519263.1_Missense_Mutation_p.R558I|MTUS1_ENST00000262102.6_Missense_Mutation_p.R558I|MTUS1_ENST00000381862.3_Missense_Mutation_p.R558I	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	62	136	0	198	558						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CAAGTCAGATCTCGGTGTTCT	0.428000													1	0	1	1	1	1	1.000000	67	144	0	214	1	9.884349e-01	11	7	0	214	4
SH2D4A	63898	broad.mit.edu	37	8	19250883	19250883	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:19250883G>A	ENST00000265807.3	+	9	1514	c.1103G>A	c.(1102-1104)gGc>gAc	p.G368D	SH2D4A_ENST00000519207.1_Missense_Mutation_p.G368D|SH2D4A_ENST00000518040.1_Missense_Mutation_p.G323D	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	5	88	0	96	368	SH2.					cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GGCATGCCCGGCAGTTTTCTC	0.473000													0	0	1	0	0	1	0.939062	5	102	0	114	1	7.185744e-01	2	49	0	114	1
INTS10	55174	broad.mit.edu	37	8	19684066	19684066	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:19684066C>A	ENST00000397977.3	+	9	1534	c.1136C>A	c.(1135-1137)aCc>aAc	p.T379N		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	13	23	0	36	379					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGAGAAAAAACCATGGTAAGG	0.343000													1	1	1	1	1	1	0.999836	13	24	0	38	1	1	40	67	0	38	5
INTS10	55174	broad.mit.edu	37	8	19709225	19709225	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:19709225G>A	ENST00000397977.3	+	17	2440	c.2042G>A	c.(2041-2043)cGc>cAc	p.R681H		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	27	60	0	128	681					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GCCATGGAGCGCCAGGTCTCC	0.537000													1	1	1	1	1	1	1.000000	27	64	0	132	1	1	61	107	0	132	5
TNFRSF10A	8797	broad.mit.edu	37	8	23049432	23049432	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:23049432G>A	ENST00000221132.3	-	10	1246	c.1182C>T	c.(1180-1182)atC>atT	p.I394I		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	37	71	0	92	394	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			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TGACCACATCGATCTCATTTT	0.527000													1	1	1	1	1	1	1.000000	37	73	0	95	1	9.875740e-01	4	13	0	95	5
PNMA2	10687	broad.mit.edu	37	8	26365965	26365965	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:26365965G>T	ENST00000522362.2	-	3	1201	c.307C>A	c.(307-309)Ctt>Att	p.L103I		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	25	36	0	76	103					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		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)		aatctttcaagaaactcagtg	0.537000													1	1	1	1	1	1	1.000000	25	37	0	77	0	0	0	0	0	77	5
HMBOX1	79618	broad.mit.edu	37	8	28866664	28866664	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:28866664T>G	ENST00000397358.3	+	6	1366	c.662T>G	c.(661-663)tTt>tGt	p.F221C	HMBOX1_ENST00000287701.10_Missense_Mutation_p.F221C|HMBOX1_ENST00000558662.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000444075.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000403668.2_Missense_Mutation_p.F221C|HMBOX1_ENST00000524238.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000519047.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000523613.1_Missense_Mutation_p.F221C|HMBOX1_ENST00000355231.5_Missense_Mutation_p.F221C	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	20	32	0	70	221					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			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		AAAAGAGCATTTTACCGATGG	0.373000													1	1	1	1	1	1	1.000000	22	36	0	82	0	7.278179e-01	0	6	0	82	5
GTF2E2	2961	broad.mit.edu	37	8	30464620	30464620	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30464620T>G	ENST00000355904.4	-	6	879	c.597A>C	c.(595-597)aaA>aaC	p.K199N	GTF2E2_ENST00000522833.1_5'UTR	NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	16	38	0	48	199					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			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		AGAAAAGTATTTTCTTCTTAT	0.328000													1	1	1	1	1	1	0.999987	17	46	0	57	1	9.999999e-01	43	60	0	57	5
TEX15	56154	broad.mit.edu	37	8	30695032	30695032	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30695032A>G	ENST00000256246.2	-	3	7693	c.7619T>C	c.(7618-7620)aTa>aCa	p.I2540T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	10	29	0	44	2540										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAATTTACTATATCATTATC	0.368000													1	1	1	1	1	1	0.998101	10	30	0	46	0	0	1	0	0	46	5
TEX15	56154	broad.mit.edu	37	8	30701117	30701117	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30701117A>C	ENST00000256246.2	-	1	5491	c.5417T>G	c.(5416-5418)tTt>tGt	p.F1806C		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	19	33	0	40	1806										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGAAAGAGAAAAATCAAAGCA	0.323000													1	1	1	1	1	1	1.000000	24	34	0	41	0	0	0	0	0	41	5
TEX15	56154	broad.mit.edu	37	8	30701595	30701595	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:30701595A>C	ENST00000256246.2	-	1	5013	c.4939T>G	c.(4939-4941)Ttt>Gtt	p.F1647V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	12	26	0	37	1647										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTTCCACAAATAAAGGGAGA	0.353000													1	1	1	1	1	1	0.999819	13	27	0	38	0	0	0	0	0	38	5
UNC5D	137970	broad.mit.edu	37	8	35583744	35583744	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:35583744C>A	ENST00000287272.2	+	9	1191	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	UNC5D_ENST00000420357.1_Missense_Mutation_p.L393M|UNC5D_ENST00000449677.1_Missense_Mutation_p.L36M|UNC5D_ENST00000416672.1_Missense_Mutation_p.L465M|UNC5D_ENST00000404895.2_Missense_Mutation_p.L460M|UNC5D_ENST00000453357.2_Missense_Mutation_p.L455M			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	7	69	0	75	460					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACCCATCTGTCTGCAGGACCC	0.502000													1	1	1	1	1	1	0.995133	9	70	0	79	0	0	0	0	0	79	5
KCNU1	157855	broad.mit.edu	37	8	36671793	36671793	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:36671793T>G	ENST00000399881.3	+	8	838	c.801T>G	c.(799-801)atT>atG	p.I267M		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	12	18	0	27	267						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTGAGTCAATTTACCTGGTCA	0.433000													1	1	1	1	1	1	0.999869	13	19	0	27	0	0	0	0	0	27	5
DDHD2	23259	broad.mit.edu	37	8	38097797	38097797	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:38097797A>G	ENST00000397166.2	+	6	1152	c.627A>G	c.(625-627)gaA>gaG	p.E209E	DDHD2_ENST00000520272.2_Silent_p.E209E	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	9	17	0	28	209					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	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)			TTATAGGAGAACCTTTACAAA	0.323000													1	1	1	1	1	1	0.998508	10	19	0	28	1	8.066421e-01	6	2	0	28	5
LETM2	137994	broad.mit.edu	37	8	38257891	38257891	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:38257891C>T	ENST00000379957.4	+	5	874	c.747C>T	c.(745-747)ggC>ggT	p.G249G	LETM2_ENST00000523983.2_Silent_p.G202G|LETM2_ENST00000297720.5_Silent_p.G154G|LETM2_ENST00000524874.1_Silent_p.G201G|LETM2_ENST00000527710.1_Silent_p.G35G	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	27	36	0	85	249	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			CCAAGATGGGCGATGCCTCTA	0.438000													1	1	1	1	1	1	1.000000	31	42	0	94	0	0	0	1	0	94	5
ADAM18	8749	broad.mit.edu	37	8	39537563	39537563	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:39537563C>A	ENST00000265707.5	+	16	1684	c.1639C>A	c.(1639-1641)Ctc>Atc	p.L547I	ADAM18_ENST00000379866.1_Missense_Mutation_p.L523I|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	9	13	0	28	547	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		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)			CAGGGATGTTCTCTGTGGAAA	0.338000													1	1	1	1	1	1	0.997050	9	16	0	32	0	0	0	0	0	32	5
GOLGA7	51125	broad.mit.edu	37	8	41355133	41355133	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:41355133T>G	ENST00000357743.4	+	2	418	c.217T>G	c.(217-219)Tta>Gta	p.L73V	GOLGA7_ENST00000520817.1_Missense_Mutation_p.L73V|GOLGA7_ENST00000405786.2_Missense_Mutation_p.L73V|GOLGA7_ENST00000518270.1_Missense_Mutation_p.L73V	NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	golgin A7	46	79	0	144	73						Golgi membrane				breast(1)|large_intestine(1)	2	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)			TTTGGCTTGTTTAACAGCATA	0.388000													1	1	1	1	1	1	1.000000	49	83	0	161	1	1	22	42	0	161	5
ANK1	286	broad.mit.edu	37	8	41530024	41530024	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:41530024C>A	ENST00000396942.1	-	38	5027	c.4944G>T	c.(4942-4944)gaG>gaT	p.E1648D	ANK1_ENST00000265709.8_Missense_Mutation_p.E1689D|ANK1_ENST00000347528.4_Missense_Mutation_p.E1648D|ANK1_ENST00000289734.7_Missense_Mutation_p.E1648D|ANK1_ENST00000396945.1_Missense_Mutation_p.E1648D|ANK1_ENST00000352337.4_Missense_Mutation_p.E1648D|ANK1_ENST00000379758.2_Missense_Mutation_p.E1648D			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	86	130	0	292	1648	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			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	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)			CTGGCAGCTTCTCTTCTGACC	0.537000													1	1	1	1	1	1	1.000000	94	140	0	315	0	0	0	0	0	315	5
ANK1	286	broad.mit.edu	37	8	41753901	41753901	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:41753901C>A	ENST00000265709.8	-	1	379	c.98G>T	c.(97-99)aGa>aTa	p.R33I		NM_001142446.1	NP_001135918.1	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	18	17	0	47	458	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			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	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)			GGAGCGGTTTCTCCGCTTCCT	0.627000													1	1	1	1	0	1	1.000000	21	18	0	56	0	0	0	0	0	56	4
IKBKB	3551	broad.mit.edu	37	8	42173742	42173742	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42173742G>A	ENST00000520810.1	+	10	1001	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.R270Q|IKBKB_ENST00000416505.2_Missense_Mutation_p.R213Q|IKBKB_ENST00000379708.3_Missense_Mutation_p.R49Q	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	18	34	0	47	272	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(4)|lung(1)|ovary(2)|skin(1)	8	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)	CTGGCTGAGCGACTGGAGAAG	0.587000													1	1	1	1	1	1	0.999999	20	40	0	54	1	9.958064e-01	11	11	0	54	5
SLC20A2	6575	broad.mit.edu	37	8	42329719	42329719	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42329719C>T	ENST00000342228.3	-	2	559	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	SLC20A2_ENST00000520262.1_Missense_Mutation_p.A64T|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A64T	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	90	180	1	310	64					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|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;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCTACTTTGGCGCCTAGTAAC	0.512000													1	1	1	1	1	1	1.000000	104	204	1	349	1	9.929163e-01	9	9	1	349	5
CHRNA6	8973	broad.mit.edu	37	8	42611406	42611406	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42611406G>T	ENST00000276410.2	-	5	1291	c.936C>A	c.(934-936)atC>atA	p.I312I	CHRNA6_ENST00000534622.1_Silent_p.I297I	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	26	48	0	96	312						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	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)			GTGTGACAAAGATCATGGTGA	0.507000													1	1	1	1	1	1	1.000000	27	53	0	97	0	0	0	0	0	97	5
RNF170	81790	broad.mit.edu	37	8	42711377	42711377	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:42711377G>T	ENST00000534961.1	-	7	1178	c.702C>A	c.(700-702)ttC>ttA	p.F234L	RNF170_ENST00000319104.3_Intron|RNF170_ENST00000527424.1_Missense_Mutation_p.F234L|RNF170_ENST00000526349.1_Missense_Mutation_p.F150L|RNF170_ENST00000319073.4_Missense_Mutation_p.F138L	NM_001160223.1	NP_001153695.1	Q96K19	RN170_HUMAN	ring finger protein 170	26	39	0	50	234						integral to membrane	zinc ion binding			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AGATGACAAAGAAATCATCTA	0.318000													1	1	1	1	1	1	1.000000	28	42	0	51	1	9.873961e-01	7	7	0	51	5
HGSNAT	138050	broad.mit.edu	37	8	43047473	43047473	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:43047473G>T	ENST00000458501.2	+	13	1361	c.1361G>T	c.(1360-1362)gGa>gTa	p.G454V	HGSNAT_ENST00000379644.4_Missense_Mutation_p.G426V|HGSNAT_ENST00000521576.1_Missense_Mutation_p.G143V|HGSNAT_ENST00000297798.7_Missense_Mutation_p.G158V			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	3	16	0	17	454					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	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)			GGGGGCATTGGAGATTTTGGC	0.483000													0	0	1	0	0	1	0.813187	3	16	0	17	1	8.435424e-01	4	16	0	17	1
SPIDR	23514	broad.mit.edu	37	8	48586455	48586455	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:48586455C>A	ENST00000297423.4	+	11	2021	c.1637C>A	c.(1636-1638)tCt>tAt	p.S546Y	SPIDR_ENST00000541342.1_Missense_Mutation_p.S476Y|SPIDR_ENST00000517693.1_Missense_Mutation_p.S21Y|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.S486Y	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair	19	44	0	66																		GAAGGGAAGTCTTGCAGCCTG	0.473000													1	1	1	1	1	1	1.000000	21	44	0	67	1	9.996678e-01	19	14	0	67	5
PXDNL	137902	broad.mit.edu	37	8	52287292	52287292	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:52287292C>T	ENST00000356297.4	-	18	3658		c.e18-1		PXDNL_ENST00000543296.1_Splice_Site	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	12	18	0	30						hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCCGTACAACCTGGAACAGAG	0.468000													1	1	1	1	1	1	0.999699	12	19	0	34	0	0	0	0	0	34	5
PXDNL	137902	broad.mit.edu	37	8	52469436	52469436	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:52469436T>G	ENST00000356297.4	-	4	444	c.344A>C	c.(343-345)aAg>aCg	p.K115T	PXDNL_ENST00000543296.1_Missense_Mutation_p.K115T	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	15	24	0	19	115					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAATGTTTGCTTATCTAGTGC	0.284000													1	1	1	1	1	1	0.999999	20	29	0	24	0	0	1	0	0	24	5
PCMTD1	115294	broad.mit.edu	37	8	52773557	52773557	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:52773557T>G	ENST00000360540.5	-	3	561	c.155A>C	c.(154-156)aAa>aCa	p.K52T	PCMTD1_ENST00000522514.1_Missense_Mutation_p.K52T|PCMTD1_ENST00000544451.1_Intron|PCMTD1_ENST00000519559.1_Intron|PCMTD1_ENST00000521344.1_Missense_Mutation_p.K52T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	18	38	0	68	52						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGCTAAGTCTTTGTAAGCATT	0.408000													1	1	1	1	1	1	0.999998	19	40	0	75	1	9.245669e-01	4	7	0	75	5
RGS20	8601	broad.mit.edu	37	8	54791868	54791868	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:54791868C>T	ENST00000297313.3	+	2	308	c.216C>T	c.(214-216)ttC>ttT	p.F72F	RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	68	158	1	357	72					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CGAAGCTGTTCGGCCTCCTTT	0.647000													1	1	1	1	1	1	1.000000	78	178	1	411	0	0	0	0	1	411	5
RP1	6101	broad.mit.edu	37	8	55541124	55541124	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:55541124A>C	ENST00000220676.1	+	4	4830	c.4682A>C	c.(4681-4683)aAa>aCa	p.K1561T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	17	17	0	26	1561					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			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		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)			AAGATGGTAAAAATGATGGTG	0.363000													1	1	1	1	1	1	0.999997	17	17	0	28	0	0	0	0	0	28	5
RP1	6101	broad.mit.edu	37	8	55541339	55541339	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:55541339G>T	ENST00000220676.1	+	4	5045	c.4897G>T	c.(4897-4899)Gaa>Taa	p.E1633*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	29	62	0	106	1633					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			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		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)			AAGGGCAATAGAAAAACTGTA	0.383000													1	1	1	1	1	1	1.000000	31	68	0	113	0	0	0	0	0	113	5
RP1	6101	broad.mit.edu	37	8	55542167	55542167	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:55542167A>G	ENST00000220676.1	+	4	5873	c.5725A>G	c.(5725-5727)Aaa>Gaa	p.K1909E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	29	40	0	62	1909					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			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		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)			CTCTTTGGATAAACTGTATGC	0.398000													1	1	1	1	1	1	1.000000	32	48	0	72	0	0	0	0	0	72	5
TMEM68	137695	broad.mit.edu	37	8	56668917	56668917	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:56668917T>G	ENST00000434581.2	-	4	578	c.379A>C	c.(379-381)Att>Ctt	p.I127L	TMEM68_ENST00000334667.2_Missense_Mutation_p.I127L|TMEM68_ENST00000519784.1_Missense_Mutation_p.I13L|TMEM68_ENST00000523073.1_Missense_Mutation_p.I13L			Q96MH6	TMM68_HUMAN	transmembrane protein 68	12	29	0	42	127						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TGATAAAAAATTATAAGTGCT	0.303000													1	1	1	1	1	1	0.999803	13	30	0	44	1	9.945247e-01	13	12	0	44	5
LYN	4067	broad.mit.edu	37	8	56882318	56882318	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:56882318T>C	ENST00000520220.2	+	10	1227	c.953T>C	c.(952-954)gTg>gCg	p.V318A	LYN_ENST00000519728.1_Missense_Mutation_p.V339A|LYN_ENST00000420292.1_3'UTR	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	21	52	0	88	339	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			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GGTGGCAAAGTGCTGCTTCCA	0.428000													1	1	1	1	1	1	1.000000	23	56	0	105	1	9.996166e-01	13	23	0	105	5
LYN	4067	broad.mit.edu	37	8	56922551	56922551	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:56922551A>C	ENST00000520220.2	+	13	1632	c.1358A>C	c.(1357-1359)gAc>gCc	p.D453A	LYN_ENST00000519728.1_Missense_Mutation_p.D474A	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	18	74	0	91	474	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			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GAGCTCTATGACATTATGAAA	0.502000													1	1	1	1	1	1	0.999996	19	78	0	96	1	9.992568e-01	11	42	0	96	5
CYP7A1	1581	broad.mit.edu	37	8	59409553	59409553	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:59409553G>T	ENST00000301645.3	-	3	655	c.518C>A	c.(517-519)tCt>tAt	p.S173Y		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	32	101	0	142	173					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			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTAGCAGAAAGAATACATCCC	0.453000									Neonatal Giant Cell Hepatitis				1	1	1	1	1	1	1.000000	35	109	0	159	0	0	0	0	0	159	5
TOX	9760	broad.mit.edu	37	8	59764207	59764207	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:59764207T>C	ENST00000361421.1	-	4	789	c.569A>G	c.(568-570)cAa>cGa	p.Q190R		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	13	27	0	68	190						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		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)				CAAACCAAGTTGAGCACTTAG	0.522000													1	1	1	1	1	1	0.999819	13	27	0	68	0	0	0	0	0	68	5
CA8	767	broad.mit.edu	37	8	61193682	61193682	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:61193682C>A	ENST00000317995.4	-	1	289	c.25G>T	c.(25-27)Gat>Tat	p.D9Y		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	6	10	0	19	9					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				GCGACGGTATCTTCGATGAAG	0.677000													1	1	1	1	1	1	0.975837	6	10	0	19	0	0	0	0	0	19	5
YTHDF3	253943	broad.mit.edu	37	8	64099024	64099024	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:64099024G>A	ENST00000539294.1	+	4	768	c.452G>A	c.(451-453)aGt>aAt	p.S151N	YTHDF3_ENST00000517371.1_Intron|YTHDF3_ENST00000542911.2_5'UTR|YTHDF3_ENST00000521674.1_3'UTR	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	10	26	0	44	152												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)			TCTGCTTATAGTAGCAGTTAT	0.433000													1	1	1	1	1	1	0.998161	10	28	0	52	1	8.159186e-01	7	4	0	52	5
TRIM55	84675	broad.mit.edu	37	8	67047346	67047346	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:67047346G>T	ENST00000315962.4	+	3	836	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	TRIM55_ENST00000350034.4_Missense_Mutation_p.D155Y|TRIM55_ENST00000276573.7_Missense_Mutation_p.D155Y|TRIM55_ENST00000353317.5_Missense_Mutation_p.D155Y	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	36	82	0	115	155						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		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)			TGCACACAAAGACTGCCAGGT	0.572000													1	1	1	1	1	1	1.000000	40	89	0	127	0	0	0	0	0	127	5
MYBL1	4603	broad.mit.edu	37	8	67488572	67488572	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:67488572A>C	ENST00000522677.3	-	10	1550	c.1140T>G	c.(1138-1140)atT>atG	p.I380M	MYBL1_ENST00000524176.2_Missense_Mutation_p.I380M|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	59	92	0	127	380	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CAGCATCAGAAATATCAAAAC	0.378000													1	1	1	1	1	1	1.000000	61	99	0	130	0	0	0	0	0	130	5
SGK3	23678	broad.mit.edu	37	8	67710856	67710856	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:67710856A>C	ENST00000396596.1	+	3	390	c.176A>C	c.(175-177)aAc>aCc	p.N59T	C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.N59T|SGK3_ENST00000522398.1_Missense_Mutation_p.N59T|SGK3_ENST00000521198.2_Missense_Mutation_p.N59T|SGK3_ENST00000520976.1_Missense_Mutation_p.N59T|SGK3_ENST00000345714.4_Missense_Mutation_p.N59T	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	46	61	0	109	59	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	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)			AAACTTTATAACACTGTAAGT	0.308000													1	1	1	1	1	1	1.000000	52	67	0	124	1	7.207699e-01	4	1	0	124	5
ARFGEF1	10565	broad.mit.edu	37	8	68111283	68111283	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:68111283T>C	ENST00000262215.3	-	39	5825	c.5436A>G	c.(5434-5436)caA>caG	p.Q1812Q	ARFGEF1_ENST00000517955.1_5'UTR|ARFGEF1_ENST00000520381.1_Intron	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	23	55	0	91	1812					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	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)			TCAAGTCAAATTGCATAATTT	0.383000													1	1	1	1	1	1	1.000000	24	60	0	99	1	9.999999e-01	48	38	0	99	5
ARFGEF1	10565	broad.mit.edu	37	8	68183948	68183948	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:68183948T>C	ENST00000262215.3	-	10	1950	c.1561A>G	c.(1561-1563)Atg>Gtg	p.M521V		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	10	24	0	25	521					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	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)			TCAATTTGCATCTTCAGATGT	0.318000													1	1	1	1	1	1	0.999147	11	27	0	26	1	7.754626e-01	2	6	0	26	5
SULF1	23213	broad.mit.edu	37	8	70512901	70512901	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:70512901A>G	ENST00000260128.4	+	9	1515	c.798A>G	c.(796-798)ccA>ccG	p.P266P	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Silent_p.P266P|SULF1_ENST00000419716.3_Silent_p.P266P|SULF1_ENST00000402687.4_Silent_p.P266P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	43	59	0	113	266					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			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACACAGGACCAATGCTGCCCA	0.393000													1	1	1	1	1	1	1.000000	49	62	0	126	0	1	1	52	0	126	5
SULF1	23213	broad.mit.edu	37	8	70515435	70515435	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:70515435A>C	ENST00000260128.4	+	11	1787	c.1070A>C	c.(1069-1071)cAg>cCg	p.Q357P	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.Q357P|SULF1_ENST00000419716.3_Missense_Mutation_p.Q357P|SULF1_ENST00000402687.4_Missense_Mutation_p.Q357P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	68	139	0	219	357					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			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGAGTCCCACAGATCGTTCTC	0.542000													1	1	1	1	1	1	1.000000	74	147	0	257	0	1	0	78	0	257	5
TRAM1	23471	broad.mit.edu	37	8	71495556	71495556	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:71495556G>T	ENST00000521425.1	-	10	1672	c.636C>A	c.(634-636)atC>atA	p.I212I	TRAM1_ENST00000262213.2_Silent_p.I298I|TRAM1_ENST00000536748.1_Silent_p.I267I			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	8	16	0	27	298	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			CCAGAACAGCGATTCTAAGAA	0.348000													1	1	1	1	1	1	0.996951	9	17	0	31	1	1	178	207	0	31	5
JPH1	56704	broad.mit.edu	37	8	75156775	75156775	+	Nonsense_Mutation	SNP	C	C	A	rs75912309		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:75156775C>A	ENST00000342232.4	-	4	1934	c.1894G>T	c.(1894-1896)Gaa>Taa	p.E632*	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	35	82	0	107	632					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				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GAATTGGCTTCTTTTTCCAAA	0.433000													1	1	1	1	1	1	1.000000	38	88	0	121	0	0	0	0	0	121	5
ZC2HC1A	51101	broad.mit.edu	37	8	79601519	79601519	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:79601519A>C	ENST00000263849.4	+	5	517	c.415A>C	c.(415-417)Aat>Cat	p.N139H	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	13	29	0	45	139								p.N139H(1)									TAGACATATAAATTTCTGTAA	0.338000													1	1	1	1	1	1	0.999956	15	33	0	46	0	3.843251e-01	0	4	0	46	5
TPD52	7163	broad.mit.edu	37	8	80992558	80992558	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:80992558T>C	ENST00000520527.1	-	1	493	c.131A>G	c.(130-132)cAg>cGg	p.Q44R	TPD52_ENST00000518937.1_Intron|TPD52_ENST00000379097.3_Missense_Mutation_p.Q44R|TPD52_ENST00000448733.2_Missense_Mutation_p.Q44R|TPD52_ENST00000519303.2_Intron|TPD52_ENST00000537855.1_Missense_Mutation_p.Q44R|TPD52_ENST00000517427.1_Missense_Mutation_p.Q44R|TPD52_ENST00000379096.5_Intron			P55327	TPD52_HUMAN	tumor protein D52	13	20	0	42	44					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	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)			ACCAAATTTCTGAAGAGTAGG	0.383000													1	1	1	1	1	1	0.999849	13	22	0	49	1	9.999849e-01	47	0	0	49	5
ZBTB10	65986	broad.mit.edu	37	8	81431737	81431737	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:81431737G>T	ENST00000430430.1	+	7	3369	c.2590G>T	c.(2590-2592)Gaa>Taa	p.E864*	ZBTB10_ENST00000455036.3_Nonsense_Mutation_p.E864*|ZBTB10_ENST00000426744.2_Nonsense_Mutation_p.E840*|ZBTB10_ENST00000379091.4_Nonsense_Mutation_p.E572*	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	8	11	0	13	864					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TGAATCAGGAGAAGTTTGTAT	0.403000													0	1	1	1	1	1	0.998849	10	13	0	13	0	2.030769e-01	0	2	0	13	4
FABP9	646480	broad.mit.edu	37	8	82373692	82373692	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:82373692C>A	ENST00000379071.2	-	1	122	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	9	121	0	117	23							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TCACCCAGTTCTTTCATGTAA	0.398000													1	0	1	1	0	1	0.994704	9	132	0	133	0	0	0	0	0	133	3
RALYL	138046	broad.mit.edu	37	8	85774639	85774639	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:85774639C>T	ENST00000521268.1	+	6	1627	c.522C>T	c.(520-522)tcC>tcT	p.S174S	RALYL_ENST00000523850.1_Silent_p.S101S|RALYL_ENST00000522455.1_Silent_p.S174S|RALYL_ENST00000521376.1_Silent_p.S85S|RALYL_ENST00000517638.1_Silent_p.S187S|RALYL_ENST00000521695.1_Silent_p.S174S|RALYL_ENST00000518566.1_Silent_p.S163S	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	13	21	0	15	174							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GAGTCTTTTCCATGAAAGGTG	0.483000													0	1	1	1	1	1	0.999971	15	22	0	16	0	0	0	0	0	16	4
LRRCC1	85444	broad.mit.edu	37	8	86021859	86021859	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:86021859T>A	ENST00000414626.2	+	1	963	c.74T>A	c.(73-75)cTt>cAt	p.L25H	LRRCC1_ENST00000360375.3_Missense_Mutation_p.L45H			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	6	11	0	17	45					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GATTCAACTCTTCATGCCGTC	0.274000													1	0	1	1	0	1	0.975154	6	11	0	22	0	5.862284e-01	0	3	0	22	3
LRRCC1	85444	broad.mit.edu	37	8	86027431	86027431	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:86027431C>A	ENST00000414626.2	+	4	1470	c.581C>A	c.(580-582)tCa>tAa	p.S194*	LRRCC1_ENST00000360375.3_Nonsense_Mutation_p.S214*			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	16	35	0	78	214	LRRCT.				cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GAAATAAATTCATCACAGCTG	0.353000													1	1	1	1	1	1	0.999996	18	36	0	86	0	8.455522e-01	0	9	0	86	5
ATP6V0D2	245972	broad.mit.edu	37	8	87155104	87155104	+	Splice_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87155104A>C	ENST00000285393.3	+	5	703		c.e5-1		CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	21	53	0	79						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						TTTCTTTTTAAGTCTTACCTT	0.303000													1	1	1	1	1	1	1.000000	23	55	0	82	0	0	0	0	0	82	5
WWP1	11059	broad.mit.edu	37	8	87393822	87393822	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87393822G>A	ENST00000517970.1	+	5	605	c.298G>A	c.(298-300)Gat>Aat	p.D100N	WWP1_ENST00000341922.2_Missense_Mutation_p.D100N|WWP1_ENST00000349423.2_Intron|WWP1_ENST00000523863.1_3'UTR|WWP1_ENST00000265428.4_Missense_Mutation_p.D100N	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	22	34	0	34	100					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			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGCAACGATAGATTTGAAACA	0.333000													1	1	1	1	1	1	1.000000	25	34	0	36	1	9.970892e-01	7	10	0	36	5
WWP1	11059	broad.mit.edu	37	8	87460450	87460450	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87460450T>G	ENST00000517970.1	+	19	2379	c.2072T>G	c.(2071-2073)cTt>cGt	p.L691R	WWP1_ENST00000341922.2_Missense_Mutation_p.L561R|WWP1_ENST00000349423.2_Missense_Mutation_p.L473R|WWP1_ENST00000265428.4_Missense_Mutation_p.L691R	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	4	21	0	10	691	HECT.				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			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						AGTAAAAAACTTACTATTAAG	0.274000													0	0	1	0	1	1	0.895278	4	24	0	10	0	6.151511e-01	1	12	0	10	2
CNGB3	54714	broad.mit.edu	37	8	87588271	87588271	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87588271C>A	ENST00000320005.5	-	18	2238	c.2191G>T	c.(2191-2193)Gaa>Taa	p.E731*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	13	26	0	69	731					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						cctttatcttcattttctttt	0.353000													1	1	1	1	1	1	0.999825	13	26	0	69	0	0	0	0	0	69	5
CNGB3	54714	broad.mit.edu	37	8	87656060	87656060	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87656060A>C	ENST00000320005.5	-	10	1144	c.1097T>G	c.(1096-1098)aTt>aGt	p.I366S		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	25	39	0	77	366					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ACAGGCATTAATGTGCAGAAT	0.368000													1	1	1	1	1	1	1.000000	25	41	0	81	0	0	0	0	0	81	5
CNGB3	54714	broad.mit.edu	37	8	87680283	87680283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:87680283G>A	ENST00000320005.5	-	5	654	c.607C>T	c.(607-609)Cga>Tga	p.R203*		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	45	82	0	103	203			R -> Q (in ACHM3; uncertain pathogenicity; dbSNP:rs16916632).		signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGTTTAATTCGCTTTAAGTAC	0.398000													1	1	1	1	1	1	1.000000	45	91	0	113	0	0	0	0	0	113	5
CNBD1	168975	broad.mit.edu	37	8	88249206	88249206	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:88249206G>T	ENST00000518476.1	+	6	688	c.637G>T	c.(637-639)Gtg>Ttg	p.V213L	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	18	49	0	76	213										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TCAAACAAACGTGTATAAAAA	0.363000													1	1	1	1	1	1	0.999999	20	50	0	86	0	0	0	0	0	86	5
CNBD1	168975	broad.mit.edu	37	8	88365879	88365879	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:88365879C>A	ENST00000518476.1	+	10	1219	c.1168C>A	c.(1168-1170)Ctt>Att	p.L390I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	19	21	0	39	390										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ATCTCAAAAACTTGTTTATAT	0.318000													1	1	1	1	1	1	1.000000	21	24	0	42	0	0	0	0	0	42	5
TMEM55A	55529	broad.mit.edu	37	8	92008023	92008023	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92008023C>T	ENST00000285419.3	-	7	970	c.656G>A	c.(655-657)cGa>cAa	p.R219Q		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	8	47	0	55	219						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TGCTCGAAATCGCCTTGCAAA	0.373000													1	1	1	1	1	1	0.995478	9	49	0	60	0	3.299676e-01	0	7	0	60	5
OTUD6B	51633	broad.mit.edu	37	8	92082634	92082634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92082634G>T	ENST00000285420.4	+	1	211	c.112G>T	c.(112-114)Gag>Tag	p.E38*	OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	9	14	0	23	8										endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			ATTGACCGAAGAGCTTGATGA	0.582000													1	1	1	1	1	1	0.997267	9	14	0	26	1	9.227233e-01	7	3	0	26	5
OTUD6B	51633	broad.mit.edu	37	8	92083511	92083511	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92083511G>T	ENST00000285420.4	+	2	417	c.318G>T	c.(316-318)gaG>gaT	p.E106D	OTUD6B_ENST00000404789.3_5'UTR	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	28	56	0	83	76										endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			CTACTAAGGAGAATAAGGTAT	0.373000													1	1	1	1	1	1	1.000000	31	62	0	93	1	9.168468e-01	4	7	0	93	5
OTUD6B	51633	broad.mit.edu	37	8	92090712	92090712	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:92090712A>C	ENST00000285420.4	+	4	633	c.534A>C	c.(532-534)gaA>gaC	p.E178D	OTUD6B_ENST00000404789.3_Missense_Mutation_p.E47D	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	11	14	0	10	148	OTU.									endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GACAGTTAGAAATTAAACAGA	0.398000													0	1	1	1	1	1	0.999775	12	14	0	11	1	9.221863e-01	2	6	0	11	4
TMEM67	91147	broad.mit.edu	37	8	94792860	94792860	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:94792860A>G	ENST00000453321.3	+	8	812	c.754A>G	c.(754-756)Atg>Gtg	p.M252V	TMEM67_ENST00000409623.3_Missense_Mutation_p.M171V|TMEM67_ENST00000425545.2_3'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	41	81	0	119	252			M -> T (in MKS3 and COACHS; also in a patient with overlaping clinical features with JBTS6).		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			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TCTTGGAAATATGTGTGTGAT	0.368000													1	1	1	1	1	1	1.000000	45	85	0	130	1	9.497862e-01	6	5	0	130	5
CDH17	1015	broad.mit.edu	37	8	95164299	95164299	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95164299G>T	ENST00000027335.3	-	13	1717	c.1593C>A	c.(1591-1593)ttC>ttA	p.F531L	CDH17_ENST00000450165.2_Missense_Mutation_p.F531L|CDH17_ENST00000441892.2_Missense_Mutation_p.F317L	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	18	31	0	77	531	Cadherin 5.					integral to membrane	calcium ion binding	p.F531F(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTTCTGCTTTGAACACAATGT	0.398000													1	1	1	1	1	1	0.999999	20	34	0	85	0	0	1	0	0	85	5
KIAA1429	25962	broad.mit.edu	37	8	95539304	95539304	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95539304C>A	ENST00000297591.5	-	8	1243	c.1168G>T	c.(1168-1170)Gat>Tat	p.D390Y	KIAA1429_ENST00000421249.2_Missense_Mutation_p.D390Y|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D390Y	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	34	69	0	100	390					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTATACAAATCTAAGAGTTCT	0.338000													1	1	1	1	1	1	1.000000	38	74	0	114	1	8.961455e-01	6	4	0	114	5
DPY19L4	286148	broad.mit.edu	37	8	95800138	95800138	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95800138C>A	ENST00000414645.2	+	18	1964	c.1865C>A	c.(1864-1866)tCa>tAa	p.S622*		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	8	27	0	29	622						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					CAAATCTATTCAAAGCGATCT	0.279000													1	1	1	1	1	1	0.998130	10	29	0	31	1	9.082262e-01	2	13	0	31	5
INTS8	55656	broad.mit.edu	37	8	95884164	95884164	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:95884164C>T	ENST00000523731.1	+	21	2600	c.2467C>T	c.(2467-2469)Cga>Tga	p.R823*	INTS8_ENST00000447247.1_Nonsense_Mutation_p.R823*	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	16	30	0	47	823					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AGAGCTAGTTCGATATACACT	0.348000													1	1	1	1	1	1	0.999982	16	30	0	48	1	9.999976e-01	6	51	0	48	5
CPQ	10404	broad.mit.edu	37	8	97978234	97978234	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:97978234C>A	ENST00000220763.5	+	5	1131	c.921C>A	c.(919-921)gcC>gcA	p.A307A		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	7	16	0	42	307					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										GCGGTGGAGCCTTTATATCAT	0.383000													1	1	1	1	1	1	0.985917	7	19	0	45	0	8.773115e-01	0	13	0	45	5
TSPYL5	85453	broad.mit.edu	37	8	98288981	98288981	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:98288981C>A	ENST00000322128.3	-	1	1195	c.1092G>T	c.(1090-1092)aaG>aaT	p.K364N		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	60	118	0	176	364					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			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TCTCCACAATCTTGTCAGACT	0.468000													1	1	1	1	1	1	1.000000	64	127	0	187	0	0	0	0	0	187	5
TSPYL5	85453	broad.mit.edu	37	8	98289208	98289208	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:98289208T>G	ENST00000322128.3	-	1	968	c.865A>C	c.(865-867)Aga>Cga	p.R289R		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	10	57	0	68	289					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			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					TAGCCCAATCTGGCAAGGCCG	0.468000													1	0	1	1	1	1	0.997569	10	62	0	76	0	0	0	1	0	76	4
POP1	10940	broad.mit.edu	37	8	99139912	99139912	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:99139912A>G	ENST00000401707.2	+	3	313	c.232A>G	c.(232-234)Aaa>Gaa	p.K78E	POP1_ENST00000349693.3_Missense_Mutation_p.K78E	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	28	51	0	103	78					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GTCTTCCTCCAAAGGGATGTT	0.498000													1	1	1	1	1	1	1.000000	31	53	0	113	0	4.749196e-01	1	3	0	113	5
POP1	10940	broad.mit.edu	37	8	99142362	99142362	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:99142362G>A	ENST00000401707.2	+	5	724	c.643G>A	c.(643-645)Gtc>Atc	p.V215I	POP1_ENST00000349693.3_Missense_Mutation_p.V215I	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	31	56	0	87	215					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GTTTCATATGGTCAAGAAGTG	0.512000													1	1	1	1	1	1	1.000000	32	59	0	88	0	4.449888e-01	1	3	0	88	5
KCNS2	3788	broad.mit.edu	37	8	99440676	99440676	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:99440676G>T	ENST00000287042.4	+	2	819	c.469G>T	c.(469-471)Gac>Tac	p.D157Y	KCNS2_ENST00000521839.1_Missense_Mutation_p.D157Y	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	31	34	0	57	157						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTTCTACAACGACGCCTCCAA	0.612000													1	0	1	1	1	1	1.000000	31	35	0	62	0	0	0	0	0	62	4
VPS13B	157680	broad.mit.edu	37	8	100523395	100523395	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100523395A>G	ENST00000358544.2	+	29	4474	c.4363A>G	c.(4363-4365)Aaa>Gaa	p.K1455E	VPS13B_ENST00000357162.2_Missense_Mutation_p.K1430E|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	22	42	0	57	1455					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GACATACACAAAAGCTGTAAC	0.378000													1	1	1	1	1	1	1.000000	24	46	0	57	0	1.236682e-01	1	1	0	57	5
VPS13B	157680	broad.mit.edu	37	8	100568703	100568703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100568703C>T	ENST00000358544.2	+	31	4957	c.4846C>T	c.(4846-4848)Cga>Tga	p.R1616*	VPS13B_ENST00000357162.2_Nonsense_Mutation_p.R1591*|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	15	15	0	37	1616					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGGAATTCTTCGAGATCCTGG	0.358000													1	1	1	1	1	1	0.999979	15	17	0	41	0	0	0	0	0	41	5
VPS13B	157680	broad.mit.edu	37	8	100568745	100568745	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100568745G>T	ENST00000358544.2	+	31	4999	c.4888G>T	c.(4888-4890)Gat>Tat	p.D1630Y	VPS13B_ENST00000357162.2_Missense_Mutation_p.D1605Y|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	14	22	0	40	1630					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATACCAAATAGATCTGCAGTC	0.408000													1	1	1	1	1	1	0.999986	16	24	0	41	0	0	0	0	0	41	5
VPS13B	157680	broad.mit.edu	37	8	100779084	100779084	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:100779084T>G	ENST00000358544.2	+	40	7319	c.7208T>G	c.(7207-7209)gTt>gGt	p.V2403G	VPS13B_ENST00000357162.2_Missense_Mutation_p.V2378G|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	16	29	0	56	2403					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAAAGCAAAGTTTGTGAACTG	0.358000													1	1	1	1	1	1	0.999981	16	32	0	56	0	1.200000e-01	0	2	0	56	5
RGS22	26166	broad.mit.edu	37	8	101084433	101084433	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:101084433T>G	ENST00000360863.6	-	5	559	c.365A>C	c.(364-366)aAg>aCg	p.K122T	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Missense_Mutation_p.K122T	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	7	39	0	36	122					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTTGATCCACTTAATACCTTC	0.318000													1	0	1	1	1	1	0.991376	8	43	0	38	0	0	0	0	0	38	4
RGS22	26166	broad.mit.edu	37	8	101117607	101117607	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:101117607C>A	ENST00000360863.6	-	2	243	c.49G>T	c.(49-51)Gaa>Taa	p.E17*	RGS22_ENST00000523287.1_5'UTR|RGS22_ENST00000523437.1_Nonsense_Mutation_p.E17*	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	19	26	0	39	17					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.E17*(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTACAAATTCTTCTTCTGTA	0.328000													1	1	1	1	1	1	1.000000	21	27	0	44	0	0	0	0	0	44	5
UBR5	51366	broad.mit.edu	37	8	103298680	103298680	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:103298680G>A	ENST00000520539.1	-	38	5729	c.5123C>T	c.(5122-5124)gCc>gTc	p.A1708V	UBR5_ENST00000521922.1_Missense_Mutation_p.A1702V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1708V	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	31	35	0	72	1708					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			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	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)			GGGAGCTTGGGCAGCACCATT	0.522000													1	1	1	1	1	1	1.000000	35	40	0	79	1	9.998367e-01	5	15	0	79	5
ODF1	4956	broad.mit.edu	37	8	103572979	103572979	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:103572979C>T	ENST00000285402.3	+	2	776	c.620C>T	c.(619-621)tCt>tTt	p.S207F	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	25	33	0	79	207					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	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)			CCTTGCACTTCTCCTtgcagc	0.587000													1	1	1	1	1	1	1.000000	25	33	0	80	0	0	0	0	0	80	5
RIMS2	9699	broad.mit.edu	37	8	104924348	104924348	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:104924348G>A	ENST00000507740.1	+	4	1420	c.1184G>A	c.(1183-1185)cGt>cAt	p.R395H	RIMS2_ENST00000406091.3_Missense_Mutation_p.R587H|RIMS2_ENST00000436393.2_Missense_Mutation_p.R365H|RIMS2_ENST00000262231.10_Missense_Mutation_p.R442H	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	21	52	0	58	665					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R395H(1)|p.R670H(1)|p.R365H(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAAATAAGCGTCTAAAAGAT	0.353000										HNSCC(12;0.0054)			1	1	1	1	1	1	1.000000	22	56	0	62	1	8.518519e-02	2	0	0	62	5
LRP12	29967	broad.mit.edu	37	8	105509413	105509413	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:105509413A>G	ENST00000276654.5	-	5	1475	c.1367T>C	c.(1366-1368)tTc>tCc	p.F456S	LRP12_ENST00000424843.2_Missense_Mutation_p.F437S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	32	53	0	94	456	LDL-receptor class A 5.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTTACAATGGAAATTTCCTGG	0.413000													1	1	1	1	1	1	1.000000	33	59	0	100	1	6.949368e-01	3	3	0	100	5
ZFPM2	23414	broad.mit.edu	37	8	106811074	106811074	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:106811074G>T	ENST00000407775.2	+	7	1112	c.862G>T	c.(862-864)Gaa>Taa	p.E288*	ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.E156*|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.E19*|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.E156*|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	36	88	0	155	288					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			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAGGAAAATGAAGACAGTGC	0.517000													1	1	1	1	1	1	1.000000	42	100	0	165	0	0	0	1	0	165	5
OXR1	55074	broad.mit.edu	37	8	107691480	107691480	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:107691480G>A	ENST00000445937.1	+	4	524	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000497705.1_Missense_Mutation_p.R21Q|OXR1_ENST00000312046.6_Missense_Mutation_p.R81Q|OXR1_ENST00000442977.2_Missense_Mutation_p.R89Q|OXR1_ENST00000531443.1_Missense_Mutation_p.R88Q|OXR1_ENST00000517566.2_Missense_Mutation_p.R88Q	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	11	42	0	45	89					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		p.R89Q(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GATGGAAGACGAATGTCTTTT	0.338000													1	1	1	1	1	1	0.999712	13	56	0	54	1	2.597631e-01	3	2	0	54	5
OXR1	55074	broad.mit.edu	37	8	107722985	107722985	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:107722985A>C	ENST00000445937.1	+	10	2021	c.1760A>C	c.(1759-1761)aAa>aCa	p.K587T	OXR1_ENST00000452423.2_Missense_Mutation_p.K77T|OXR1_ENST00000312046.6_Missense_Mutation_p.K580T|OXR1_ENST00000442977.2_Missense_Mutation_p.K588T|OXR1_ENST00000531443.1_Missense_Mutation_p.K587T|OXR1_ENST00000517566.2_Missense_Mutation_p.K587T	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	13	30	0	49	588					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGAGATAAGAAACATGAATAT	0.358000													1	1	1	1	1	1	0.999981	16	32	0	54	1	7.313159e-01	3	4	0	54	5
ABRA	137735	broad.mit.edu	37	8	107773289	107773289	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:107773289A>C	ENST00000311955.3	-	2	1176	c.1122T>G	c.(1120-1122)caT>caG	p.H374Q		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	50	84	0	155	374	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			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TAATCACAACATGGTCATCTC	0.418000													1	1	1	1	1	1	1.000000	56	92	0	171	0	0	0	0	0	171	5
TRHR	7201	broad.mit.edu	37	8	110099941	110099941	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:110099941T>C	ENST00000518632.1	+	2	551	c.200T>C	c.(199-201)cTg>cCg	p.L67P	TRHR_ENST00000311762.2_Missense_Mutation_p.L67P			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	27	63	0	95	67						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CTGGTGAGCCTGGCAGTAGCT	0.527000													1	1	1	1	1	1	1.000000	27	66	0	96	0	0	0	0	0	96	5
PKHD1L1	93035	broad.mit.edu	37	8	110420308	110420308	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:110420308T>C	ENST00000378402.5	+	18	1948	c.1844T>C	c.(1843-1845)gTt>gCt	p.V615A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	13	27	0	30	615					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TATGAAGTAGTTGAAGGGAAT	0.343000										HNSCC(38;0.096)			1	1	1	1	0	1	0.999956	15	32	0	34	0	0	0	0	0	34	4
PKHD1L1	93035	broad.mit.edu	37	8	110504169	110504169	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:110504169A>G	ENST00000378402.5	+	62	10286	c.10182A>G	c.(10180-10182)ggA>ggG	p.G3394G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	7	9	0	18	3394					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGGCCAGGAACCTATCAGA	0.348000										HNSCC(38;0.096)			1	0	1	1	1	1	0.994961	8	10	0	18	0	0	0	0	0	18	4
CSMD3	114788	broad.mit.edu	37	8	113246683	113246683	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:113246683G>A	ENST00000297405.5	-	68	10895	c.10651C>T	c.(10651-10653)Cgc>Tgc	p.R3551C	CSMD3_ENST00000352409.3_Missense_Mutation_p.R3481C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3382C|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3511C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	28	63	0	96	3551						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACATTAGGCGAGCTTCCTGG	0.328000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			1	1	1	1	1	1	1.000000	30	70	0	106	0	0	0	0	0	106	5
CSMD3	114788	broad.mit.edu	37	8	113316973	113316973	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:113316973C>A	ENST00000297405.5	-	52	8487	c.8243G>T	c.(8242-8244)aGa>aTa	p.R2748I	CSMD3_ENST00000352409.3_Missense_Mutation_p.R2678I|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2708I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	14	25	0	60	2748	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTTTCATTTCTCCAACTCCA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			1	1	1	1	1	1	1.000000	21	30	0	64	0	0	0	0	0	64	5
CSMD3	114788	broad.mit.edu	37	8	113529438	113529438	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:113529438C>T	ENST00000297405.5	-	28	4825	c.4581G>A	c.(4579-4581)gcG>gcA	p.A1527A	CSMD3_ENST00000352409.3_Silent_p.A1527A|CSMD3_ENST00000455883.2_Silent_p.A1423A|CSMD3_ENST00000343508.3_Silent_p.A1487A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	19	18	0	32	1527	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGTCACGACACGCAGTGGCAA	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			1	1	1	1	1	1	1.000000	20	20	0	33	0	0	0	0	0	33	5
TNFRSF11B	4982	broad.mit.edu	37	8	119941087	119941087	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:119941087C>T	ENST00000297350.4	-	3	860	c.482G>A	c.(481-483)aGa>aAa	p.R161K		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	32	50	0	90	161					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TGTGTGTTTTCTACAGGGTGC	0.413000													1	1	1	1	1	1	1.000000	32	55	0	95	0	4.726942e-01	1	3	0	95	5
COLEC10	10584	broad.mit.edu	37	8	120079578	120079578	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:120079578C>A	ENST00000332843.2	+	1	99	c.58C>A	c.(58-60)Ctt>Att	p.L20I	COLEC10_ENST00000521788.1_Intron|RP11-278I4.2_ENST00000518362.1_RNA	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	16	32	0	48	20						collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGTACTATTTCTTTTGCAAAT	0.453000													1	1	1	1	1	1	0.999991	17	33	0	48	0	0	0	0	0	48	5
COL14A1	7373	broad.mit.edu	37	8	121243839	121243839	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:121243839G>T	ENST00000297848.3	+	19	2601	c.2331G>T	c.(2329-2331)gaG>gaT	p.E777D	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.E777D|COL14A1_ENST00000247781.3_Missense_Mutation_p.E682D|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	9	24	0	29	777	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	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)			GGGACCCTGAGGAAGAAGTCA	0.443000													1	1	1	1	1	1	0.996236	9	27	0	34	0	3.933873e-01	0	5	0	34	5
MTBP	27085	broad.mit.edu	37	8	121528236	121528236	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:121528236G>A	ENST00000305949.1	+	18	2096	c.2051G>A	c.(2050-2052)cGt>cAt	p.R684H		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	20	44	0	75	684	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	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)			CGTCTTATTCGTTATGAAACT	0.408000													1	1	1	1	1	1	0.999999	20	46	0	77	1	9.069220e-01	3	9	0	77	5
HAS2	3037	broad.mit.edu	37	8	122641078	122641078	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:122641078G>A	ENST00000303924.4	-	2	1040	c.503C>T	c.(502-504)tCg>tTg	p.S168L		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	59	124	1	193	168						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	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)			TACGTGTTGCGAGCTTTCTTT	0.448000													1	0	1	1	1	1	1.000000	65	138	1	215	1	9.919130e-01	7	12	1	215	4
C8orf76	84933	broad.mit.edu	37	8	124243893	124243893	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124243893C>A	ENST00000276704.4	-	4	513	c.462G>T	c.(460-462)caG>caT	p.Q154H	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.Q122H	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	44	86	0	108	154							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAATCAGTTTCTGCAGGCAGA	0.443000													1	1	1	1	1	1	1.000000	46	89	0	117	1	1	46	42	0	117	5
ATAD2	29028	broad.mit.edu	37	8	124358483	124358483	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124358483C>T	ENST00000287394.5	-	18	2482	c.2375G>A	c.(2374-2376)cGa>cAa	p.R792Q	ATAD2_ENST00000521903.1_Missense_Mutation_p.R110Q	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	16	43	0	41	792					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TATTCTTGGTCGAAAAGACAT	0.343000													1	1	1	1	1	1	0.999987	17	47	0	45	1	9.785886e-01	11	10	0	45	5
KLHL38	340359	broad.mit.edu	37	8	124663962	124663962	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124663962T>G	ENST00000325995.7	-	1	1228	c.1205A>C	c.(1204-1206)gAa>gCa	p.E402A	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	8	59	0	55	402										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GTCATACCTTTCCATGGAGCC	0.567000													1	1	1	1	0	1	0.990767	8	64	0	59	0	0	0	0	0	59	4
ANXA13	312	broad.mit.edu	37	8	124701112	124701112	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:124701112G>A	ENST00000262219.6	-	10	907	c.841_splice	c.e10+1	p.L280_splice	ANXA13_ENST00000419625.1_Splice_Site_p.L239_splice	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	23	38	0	78	239					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TTACTTTACCGAGAGTTAAAT	0.443000													1	1	1	1	1	1	1.000000	25	42	0	85	0	0	0	0	0	85	5
FER1L6	654463	broad.mit.edu	37	8	125088538	125088538	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:125088538C>T	ENST00000522917.1	+	32	4398	c.4192C>T	c.(4192-4194)Cct>Tct	p.P1398S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1398S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	68	116	0	188	1398	C2 5.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TAAATACATCCCTAAACAACT	0.443000													1	1	1	1	1	1	1.000000	74	127	0	217	0	0	0	0	0	217	5
FER1L6	654463	broad.mit.edu	37	8	125131132	125131132	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:125131132G>T	ENST00000522917.1	+	40	5543	c.5337G>T	c.(5335-5337)gaG>gaT	p.E1779D	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1779D	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	11	31	0	42	1779						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGAAGCTGAGAAAAATCCTG	0.498000													1	1	1	1	1	1	0.999525	12	36	0	45	0	0	0	0	0	45	5
RNF139	11236	broad.mit.edu	37	8	125499514	125499514	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:125499514G>T	ENST00000303545.3	+	2	1996	c.1624G>T	c.(1624-1626)Gaa>Taa	p.E542*		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	14	36	0	44	542					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			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCGCTTACAAGAAATAAATGA	0.373000													1	1	1	1	1	1	0.999977	16	39	0	51	1	9.999991e-01	35	43	0	51	5
KIAA0196	9897	broad.mit.edu	37	8	126056266	126056266	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:126056266A>G	ENST00000318410.7	-	22	3087	c.2738T>C	c.(2737-2739)aTg>aCg	p.M913T	KIAA0196_ENST00000517845.1_Missense_Mutation_p.M765T|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	12	31	0	41	913					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	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)			GACAGCATTCATGAGGGTTTT	0.413000													1	1	1	1	1	1	0.999900	14	34	0	46	1	9.999876e-01	22	40	0	46	5
NSMCE2	286053	broad.mit.edu	37	8	126194402	126194402	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:126194402T>A	ENST00000287437.3	+	5	538	c.322T>A	c.(322-324)Ttt>Att	p.F108I	NSMCE2_ENST00000517315.1_Missense_Mutation_p.F48I|NSMCE2_ENST00000522563.1_Missense_Mutation_p.F108I	NM_173685.2	NP_775956.1	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog (S. cerevisiae)	4	72	0	88	108				F -> L (in Ref. 1; BAB71338).	DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGAGAAGAAATTTTTGGCTTT	0.294000													0	0	1	0	0	1	0.892126	4	77	0	92	1	8.830563e-01	5	73	0	92	1
GSDMC	56169	broad.mit.edu	37	8	130772804	130772804	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:130772804T>G	ENST00000276708.4	-	6	1589	c.708A>C	c.(706-708)agA>agC	p.R236S		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	8	62	0	67	236						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTTGAAAGGTTCTCTGTTCAT	0.373000													1	1	1	1	1	1	0.997507	10	69	0	78	0	0	0	0	0	78	5
LRRC6	23639	broad.mit.edu	37	8	133627334	133627334	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:133627334G>T	ENST00000519595.1	-	8	1022	c.924C>A	c.(922-924)ttC>ttA	p.F308L	LRRC6_ENST00000518642.1_Missense_Mutation_p.F308L|LRRC6_ENST00000250173.1_Missense_Mutation_p.F308L			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	5	44	0	43	308	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	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)			CTTTCAAAGAGAAGTCAATTC	0.318000													1	0	1	1	0	1	0.940652	5	49	0	51	1	3.666360e-01	2	10	0	51	3
TG	7038	broad.mit.edu	37	8	133900320	133900320	+	Silent	SNP	C	C	T	rs141011127		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:133900320C>T	ENST00000220616.4	+	10	2308	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	TG_ENST00000377869.1_Silent_p.S756S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	21	34	0	47	756	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	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)		CCACCCTTTCCGACACCTACA	0.587000													1	1	1	1	1	1	1.000000	23	36	0	52	0	0	0	0	0	52	5
TG	7038	broad.mit.edu	37	8	133961050	133961050	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:133961050C>T	ENST00000220616.4	+	27	5303	c.5263C>T	c.(5263-5265)Ccc>Tcc	p.P1755S	TG_ENST00000542445.1_Missense_Mutation_p.P125S|TG_ENST00000377869.1_Missense_Mutation_p.P1698S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	48	77	0	152	1755					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	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)		GCTGAGCTCACCCAGTGTCCT	0.522000													1	1	1	1	1	1	1.000000	53	93	0	170	0	0	0	0	0	170	5
TG	7038	broad.mit.edu	37	8	134031925	134031925	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:134031925C>A	ENST00000220616.4	+	39	6901	c.6861C>A	c.(6859-6861)ttC>ttA	p.F2287L	TG_ENST00000542445.1_Missense_Mutation_p.F657L|TG_ENST00000377869.1_Missense_Mutation_p.F2230L|TG_ENST00000519543.1_Missense_Mutation_p.F420L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	20	34	0	65	2287				F -> P (in Ref. 13; AA sequence).	hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	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)		TCAATGTGTTCATCCCTCAGA	0.517000													1	1	1	1	1	1	1.000000	21	36	0	67	0	0	0	0	0	67	5
WISP1	8840	broad.mit.edu	37	8	134232915	134232915	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:134232915C>T	ENST00000250160.6	+	3	547	c.441C>T	c.(439-441)atC>atT	p.I147I	WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	44	89	1	141	147	VWFC.				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)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	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)			GCACGTGCATCGACGGCGCGG	0.662000													1	0	1	1	1	1	1.000000	50	97	2	157	0	1.186577e-01	0	2	2	157	4
NDRG1	10397	broad.mit.edu	37	8	134258875	134258875	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:134258875T>C	ENST00000414097.2	-	13	1706	c.839A>G	c.(838-840)aAg>aGg	p.K280R	NDRG1_ENST00000537882.1_Missense_Mutation_p.K199R|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000522476.1_Missense_Mutation_p.K214R|NDRG1_ENST00000518176.1_Missense_Mutation_p.K27R|NDRG1_ENST00000521414.1_5'UTR|NDRG1_ENST00000323851.7_Missense_Mutation_p.K280R|NDRG1_ENST00000354944.5_Missense_Mutation_p.K210R	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	5	85	0	88	280					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	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)			GAGAGTGGTCTTTGTTGGGTC	0.443000			T	ERG	prostate								0	0	1	0	0	1	0.939174	5	95	0	102	1	9.999937e-01	17	868	0	102	1
FAM135B	51059	broad.mit.edu	37	8	139153578	139153578	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139153578G>T	ENST00000395297.1	-	17	3823	c.3653C>A	c.(3652-3654)tCt>tAt	p.S1218Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	36	63	0	117	1218										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	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)			GTTGCCAAGAGAATGGCCAAT	0.552000										HNSCC(54;0.14)			1	1	1	1	1	1	1.000000	37	66	0	137	0	0	0	0	0	137	5
FAM135B	51059	broad.mit.edu	37	8	139160910	139160910	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139160910T>G	ENST00000395297.1	-	14	3471	c.3301A>C	c.(3301-3303)Aaa>Caa	p.K1101Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	5	22	0	16	1101										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	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)			TTTTTAAATTTTTCTTTGGCC	0.368000										HNSCC(54;0.14)			1	0	1	1	1	1	0.970736	6	23	0	16	0	0	0	0	0	16	4
FAM135B	51059	broad.mit.edu	37	8	139164359	139164359	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139164359C>T	ENST00000395297.1	-	13	2529	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	28	42	0	59	787								p.D787Y(2)|p.D787N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	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)			TGCTTGGTGTCCGCATCTTCA	0.522000										HNSCC(54;0.14)			1	1	1	1	1	1	1.000000	30	45	0	65	0	0	0	0	0	65	5
COL22A1	169044	broad.mit.edu	37	8	139620199	139620199	+	Missense_Mutation	SNP	G	G	A	rs149644599		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:139620199G>A	ENST00000303045.6	-	57	4458	c.4012C>T	c.(4012-4014)Cct>Tct	p.P1338S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.P1318S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	10	34	0	40	1338	Collagen-like 13.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	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)			GAAGGGCCAGGCTCTCCTGGA	0.527000										HNSCC(7;0.00092)			1	1	1	1	1	1	0.999772	13	37	0	46	0	0	0	0	0	46	5
TRAPPC9	83696	broad.mit.edu	37	8	140922403	140922403	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:140922403G>A	ENST00000389328.4	-	20	3260	c.3246C>T	c.(3244-3246)atC>atT	p.I1082I	TRAPPC9_ENST00000438773.2_Silent_p.I984I|TRAPPC9_ENST00000389327.3_Silent_p.I975I	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	34	59	0	76	984					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTCTCCAGCAGATGCCCAGCT	0.602000													1	1	1	1	1	1	1.000000	34	59	0	79	1	9.999994e-01	21	27	0	79	5
AGO2	27161	broad.mit.edu	37	8	141545600	141545600	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:141545600G>A	ENST00000220592.5	-	17	2350	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	AGO2_ENST00000519980.1_Intron	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2	7	88	0	83																		GGTAGAAGTCGAACTCGGTGG	0.562000													1	0	1	1	0	1	0.981751	7	103	0	92	1	3.894590e-01	2	16	0	92	3
DENND3	22898	broad.mit.edu	37	8	142154302	142154302	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:142154302G>T	ENST00000519811.1	+	5	749	c.679G>T	c.(679-681)Gat>Tat	p.D227Y	DENND3_ENST00000262585.2_Missense_Mutation_p.D147Y|DENND3_ENST00000424248.1_Missense_Mutation_p.D147Y			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	5	21	0	27	147	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	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)			TCATATAAAAGATTTCGCTGC	0.373000													0	0	1	1	0	1	0.942780	5	28	0	29	0	1.474633e-01	1	3	0	29	2
DENND3	22898	broad.mit.edu	37	8	142186774	142186774	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:142186774G>A	ENST00000519811.1	+	15	2690	c.2620G>A	c.(2620-2622)Gaa>Aaa	p.E874K	DENND3_ENST00000262585.2_Missense_Mutation_p.E794K|DENND3_ENST00000424248.1_Missense_Mutation_p.E742K			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	30	54	0	74	794										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	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)			AGAAGTCTTCGAAGCCAACCT	0.512000													1	1	1	1	1	1	1.000000	33	57	0	76	1	9.926599e-01	8	9	0	76	5
BAI1	575	broad.mit.edu	37	8	143570434	143570434	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:143570434C>T	ENST00000517894.1	+	15	3385	c.2491C>T	c.(2491-2493)Ctc>Ttc	p.L831F	BAI1_ENST00000323289.5_Missense_Mutation_p.L831F			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	5	15	0	23	831					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			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	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)					GGGCACCGTGCTCTACAGGAA	0.672000													1	0	1	1	1	1	0.986371	7	17	0	27	0	0	0	0	0	27	4
CYP11B1	0	broad.mit.edu	37	8	143957711	143957711	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:143957711C>T	ENST00000292427.4	-	5	932	c.900G>A	c.(898-900)tcG>tcA	p.S300S	CYP11B1_ENST00000517471.1_Silent_p.S300S|CYP11B1_ENST00000377675.3_Silent_p.S371S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	12	35	0	56	300					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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)				Mitotane(DB00648)	TGGCATCTGGCGACAGTTCCG	0.582000									Familial Hyperaldosteronism type I				1	1	1	1	1	1	0.999896	14	36	0	58	0	0	0	0	0	58	5
FAM83H	286077	broad.mit.edu	37	8	144808233	144808233	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:144808233T>C	ENST00000388913.3	-	5	3523	c.3398A>G	c.(3397-3399)tAc>tGc	p.Y1133C		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	12	26	0	34	1133					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	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)			GAAGCGGCTGTACACGCGCTT	0.701000													1	1	1	1	1	1	0.999615	12	26	0	37	1	9.999953e-01	35	33	0	37	5
EPPK1	83481	broad.mit.edu	37	8	144941131	144941131	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:144941131G>C	ENST00000525985.1	-	2	6362	c.6291C>G	c.(6289-6291)gaC>gaG	p.D2097E				P58107	EPIPL_HUMAN	epiplakin 1	12	139	0	173	2097						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	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)			TTCTCGTCTCGTCATCGATGT	0.587000													1	1	1	1	1	1	0.999604	13	150	0	183	1	7.257393e-01	4	27	0	183	5
PLEC	5339	broad.mit.edu	37	8	144994413	144994413	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:144994413G>T	ENST00000322810.4	-	32	10156	c.9987C>A	c.(9985-9987)taC>taA	p.Y3329*	PLEC_ENST00000345136.3_Nonsense_Mutation_p.Y3192*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.Y3160*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.Y3170*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.Y3215*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.Y3192*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.Y3219*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.Y3178*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.Y3196*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	8	17	0	21	3329	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGAGCTCGCCGTAGGTGGCCG	0.706000													1	1	1	1	1	1	0.996615	9	20	0	22	1	9.999971e-01	38	53	0	22	5
DGAT1	8694	broad.mit.edu	37	8	145541355	145541355	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:145541355C>A	ENST00000332324.4	-	11	1188	c.915G>T	c.(913-915)caG>caT	p.Q305H		NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	37	68	0	88	305					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	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)			TCATGGAGTTCTGGATGGTGG	0.602000													1	1	1	1	1	1	1.000000	40	73	0	97	1	1	62	54	0	97	5
C8orf33	65265	broad.mit.edu	37	8	146279537	146279537	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr8:146279537C>A	ENST00000331434.6	+	5	798	c.684C>A	c.(682-684)ttC>ttA	p.F228L		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	55	114	0	220	228										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	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)		GGTTCAATTTCTTTTAGCGTC	0.512000													1	1	1	1	1	1	1.000000	61	121	0	235	1	1	58	46	0	235	5
DMRT2	10655	broad.mit.edu	37	9	1056315	1056315	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:1056315A>C	ENST00000382251.3	+	5	1057	c.728A>C	c.(727-729)aAa>aCa	p.K243T	DMRT2_ENST00000302441.6_Missense_Mutation_p.K243T|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.K243T|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	38	73	0	122	243					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TTTGCTGATAAAGAGTTGGAG	0.493000													1	1	1	1	1	1	1.000000	39	77	0	131	0	0	0	0	0	131	5
SMARCA2	6595	broad.mit.edu	37	9	2191349	2191349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:2191349C>T	ENST00000382203.1	+	33	4887	c.4678C>T	c.(4678-4680)Cga>Tga	p.R1560*	SMARCA2_ENST00000382186.1_Nonsense_Mutation_p.R224*|SMARCA2_ENST00000382185.1_Nonsense_Mutation_p.R206*|SMARCA2_ENST00000357248.2_Nonsense_Mutation_p.R1542*|SMARCA2_ENST00000349721.2_Nonsense_Mutation_p.R1560*|SMARCA2_ENST00000302401.3_Nonsense_Mutation_p.R248*|SMARCA2_ENST00000324954.5_Nonsense_Mutation_p.R206*|SMARCA2_ENST00000382194.1_Nonsense_Mutation_p.R1542*			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	31	48	1	75	1560					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			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGGCCAAATCGAGGAAAAGC	0.458000													1	0	1	1	1	1	1.000000	31	53	1	78	0	9.858875e-01	0	15	1	78	4
KIAA0020	9933	broad.mit.edu	37	9	2831329	2831329	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:2831329C>T	ENST00000397885.2	-	6	738	c.532G>A	c.(532-534)Gat>Aat	p.D178N		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	13	31	0	37	178	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CGAGTTGAATCGTGTGCAAAT	0.343000													1	1	1	1	1	1	0.999900	14	34	0	40	1	9.999606e-01	25	28	0	40	5
GLIS3	169792	broad.mit.edu	37	9	4118581	4118581	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:4118581C>A	ENST00000324333.10	-	3	625	c.432G>T	c.(430-432)aaG>aaT	p.K144N	GLIS3_ENST00000381971.3_Missense_Mutation_p.K299N	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	52	74	0	112	144	Ser-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		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		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)		GCGCTCTCTTCTTGGAGCGGG	0.562000													1	1	1	1	1	1	1.000000	55	80	0	119	1	8.959339e-01	5	3	0	119	5
JAK2	3717	broad.mit.edu	37	9	5066779	5066779	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5066779T>C	ENST00000381652.3	+	10	1810	c.1316T>C	c.(1315-1317)tTt>tCt	p.F439S	JAK2_ENST00000539801.1_Missense_Mutation_p.F439S|JAK2_ENST00000544510.1_Missense_Mutation_p.F290S	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	9	12	0	17	439	SH2; atypical.				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		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	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)		TTTTTGACTTTTGCTGTCGAG	0.313000		1	T, Mis, O	ETV6, PCM1, BCR	ALL, AML, MPD,  CML				Polycythemia Vera, Familial				1	1	1	1	1	1	0.998849	10	13	0	18	0	0	0	0	0	18	5
JAK2	3717	broad.mit.edu	37	9	5078340	5078340	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5078340C>T	ENST00000381652.3	+	16	2521	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V	JAK2_ENST00000539801.1_Missense_Mutation_p.A676V|JAK2_ENST00000544510.1_Missense_Mutation_p.A527V|AL161450.1_ENST00000601793.1_Intron	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	33	68	0	85	676	Protein kinase 1.				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		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	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)		AATGTATGTGCCAAAAATATT	0.363000		1	T, Mis, O	ETV6, PCM1, BCR	ALL, AML, MPD,  CML				Polycythemia Vera, Familial				1	1	1	1	1	1	1.000000	36	74	0	95	1	5.304228e-01	2	3	0	95	5
KIAA1432	57589	broad.mit.edu	37	9	5757341	5757341	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5757341C>A	ENST00000414202.2	+	17	2073	c.1882C>A	c.(1882-1884)Ctt>Att	p.L628I	KIAA1432_ENST00000449720.2_Missense_Mutation_p.L512I|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L549I|KIAA1432_ENST00000251879.6_Missense_Mutation_p.L628I|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L549I	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	48	111	0	132	628						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TATTCAAGTTCTTCAGGAGGT	0.388000													1	1	1	1	1	1	1.000000	57	131	0	147	1	8.068004e-01	3	6	0	147	5
ERMP1	79956	broad.mit.edu	37	9	5805106	5805106	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5805106C>A	ENST00000339450.5	-	10	1924	c.1835G>T	c.(1834-1836)aGa>aTa	p.R612I	ERMP1_ENST00000381506.3_Intron|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.R190I	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	9	47	0	52	612					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AGAACCACTTCTCCCGAGGAT	0.383000													1	1	1	1	1	1	0.997644	10	55	0	57	0	9.405359e-01	1	29	0	57	5
ERMP1	79956	broad.mit.edu	37	9	5810024	5810024	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5810024C>A	ENST00000339450.5	-	8	1624	c.1535G>T	c.(1534-1536)aGa>aTa	p.R512I	ERMP1_ENST00000381506.3_Missense_Mutation_p.R288I|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.R90I	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	7	43	0	47	512					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GTAATAAAATCTTTTCGCAAG	0.368000													1	0	1	1	1	1	0.983188	7	45	0	50	1	8.971685e-01	5	24	0	50	4
ERMP1	79956	broad.mit.edu	37	9	5811254	5811254	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5811254C>T	ENST00000339450.5	-	7	1273	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	ERMP1_ENST00000381506.3_Missense_Mutation_p.R171Q|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	22	74	0	83	395					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		GTTTCCATGTCGATACTTAGA	0.393000													1	1	1	1	1	1	1.000000	23	79	0	92	1	9.799876e-01	3	22	0	92	5
KIAA2026	158358	broad.mit.edu	37	9	5922560	5922560	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:5922560T>G	ENST00000399933.3	-	8	3435	c.3436A>C	c.(3436-3438)Aat>Cat	p.N1146H	KIAA2026_ENST00000381461.2_Missense_Mutation_p.N1116H	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	14	53	0	42	1146										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAAGAAGAATTTATATTTGTT	0.353000													1	1	1	1	0	1	0.999932	15	58	0	43	0	2.052264e-01	0	4	0	43	4
RANBP6	26953	broad.mit.edu	37	9	6014728	6014728	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:6014728A>C	ENST00000259569.5	-	1	890	c.880T>G	c.(880-882)Ttg>Gtg	p.L294V	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	13	29	0	39	294					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GTTTCAGACAAGGTCACTATA	0.398000													1	1	1	1	1	1	0.999808	13	29	0	40	1	9.279861e-01	6	7	0	40	5
RANBP6	26953	broad.mit.edu	37	9	6015322	6015322	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:6015322C>T	ENST00000259569.5	-	1	296	c.286G>A	c.(286-288)Gat>Aat	p.D96N	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	27	54	0	80	96					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTGACATCTCTCTGAACA	0.438000													1	1	1	1	1	1	1.000000	29	63	0	85	1	6.139313e-01	3	3	0	85	5
KDM4C	23081	broad.mit.edu	37	9	6980999	6980999	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:6980999G>A	ENST00000381309.3	+	9	1561	c.996G>A	c.(994-996)caG>caA	p.Q332Q	KDM4C_ENST00000428870.2_Silent_p.Q19Q|KDM4C_ENST00000543771.1_Silent_p.Q332Q|KDM4C_ENST00000381306.3_Silent_p.Q332Q|KDM4C_ENST00000535193.1_Silent_p.Q354Q|KDM4C_ENST00000442236.2_Silent_p.Q151Q|KDM4C_ENST00000536108.1_Silent_p.Q151Q	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	19	43	0	83	332					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			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ACAGATATCAGCTTTGGAAAC	0.453000													1	1	1	1	1	1	1.000000	21	46	0	89	1	9.628349e-01	6	9	0	89	5
PTPRD	5789	broad.mit.edu	37	9	8404577	8404577	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:8404577G>A	ENST00000381196.4	-	33	4713	c.4170C>T	c.(4168-4170)atC>atT	p.I1390I	PTPRD_ENST00000397617.3_Silent_p.I983I|PTPRD_ENST00000358503.5_Silent_p.I1368I|PTPRD_ENST00000486161.1_Silent_p.I983I|PTPRD_ENST00000397611.3_Silent_p.I980I|PTPRD_ENST00000360074.4_Silent_p.I1377I|PTPRD_ENST00000540109.1_Silent_p.I1390I|PTPRD_ENST00000537002.1_Silent_p.I980I|PTPRD_ENST00000397606.3_Silent_p.I983I|PTPRD_ENST00000355233.5_Silent_p.I984I|PTPRD_ENST00000356435.5_Silent_p.I1390I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	10	18	0	32	1390	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		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)		GATCATATGCGATTACATTCG	0.388000										TSP Lung(15;0.13)			1	1	1	1	1	1	0.998508	10	19	0	33	0	0	0	0	0	33	5
FREM1	158326	broad.mit.edu	37	9	14748461	14748461	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:14748461G>A	ENST00000380881.4	-	32	6552	c.5737C>T	c.(5737-5739)Cgg>Tgg	p.R1913W	FREM1_ENST00000422223.2_Missense_Mutation_p.R1912W|FREM1_ENST00000380880.3_Missense_Mutation_p.R1912W|FREM1_ENST00000380894.1_Missense_Mutation_p.R448W			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	28	54	0	103	1912					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCAAAGCCCCGCAGGGTGTCT	0.498000													1	1	1	1	1	1	1.000000	28	54	0	104	0	8.963000e-01	1	9	0	104	5
FREM1	158326	broad.mit.edu	37	9	14804984	14804984	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:14804984T>G	ENST00000380881.4	-	20	4259	c.3444A>C	c.(3442-3444)gaA>gaC	p.E1148D	FREM1_ENST00000422223.2_Missense_Mutation_p.E1147D|FREM1_ENST00000380880.3_Missense_Mutation_p.E1147D			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	24	36	0	74	1147					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGTCAGGAGCTTCATCATTTG	0.358000													1	1	1	1	1	1	1.000000	26	38	0	77	0	6.707673e-01	1	4	0	77	5
TTC39B	158219	broad.mit.edu	37	9	15267934	15267934	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:15267934C>A	ENST00000355694.2	-	2	289	c.55G>T	c.(55-57)Gat>Tat	p.D19Y	TTC39B_ENST00000297615.5_Missense_Mutation_p.D85Y|TTC39B_ENST00000541445.1_Missense_Mutation_p.D19Y|TTC39B_ENST00000512701.1_Missense_Mutation_p.D85Y|TTC39B_ENST00000380850.4_Missense_Mutation_p.D85Y	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	15	32	0	28	19							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TCCAAGGCATCTTCGAAAACG	0.299000													1	1	1	1	1	1	0.999951	15	37	0	31	0	0	0	0	0	31	5
SNAPC3	6619	broad.mit.edu	37	9	15453106	15453106	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:15453106G>T	ENST00000380821.3	+	7	1059	c.883G>T	c.(883-885)Gat>Tat	p.D295Y	SNAPC3_ENST00000380799.1_Missense_Mutation_p.D92Y	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	16	59	0	84	295					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		TAGAATGGAAGATTTCACCTT	0.393000													1	1	1	1	1	1	0.999984	17	60	0	88	1	9.985823e-01	9	34	0	88	5
ADAMTSL1	92949	broad.mit.edu	37	9	18574328	18574328	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:18574328T>G	ENST00000431052.2	+	4	627	c.538T>G	c.(538-540)Tta>Gta	p.L180V	ADAMTSL1_ENST00000380548.4_Intron|ADAMTSL1_ENST00000327883.7_Intron|ADAMTSL1_ENST00000380566.4_Intron|ADAMTSL1_ENST00000380570.4_Intron|ADAMTSL1_ENST00000276935.6_Intron			Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	33	50	0	91	0						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGTAAATGGTTTACATAGTCT	0.343000													1	0	0	1	0	1	1.000000	34	51	0	92	0	0	0	0	0	92	2
ADAMTSL1	92949	broad.mit.edu	37	9	18639251	18639251	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:18639251G>T	ENST00000380548.4	+	7	1015		c.e7-1		ADAMTSL1_ENST00000327883.7_Splice_Site|ADAMTSL1_ENST00000380566.4_Splice_Site|ADAMTSL1_ENST00000276935.6_Splice_Site	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	16	13	0	26							proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.?(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGATCATATAGATCTGGAAAC	0.438000													1	1	1	1	1	1	0.999998	17	14	0	27	0	0	0	0	0	27	5
FAM154A	158297	broad.mit.edu	37	9	18950823	18950823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:18950823C>A	ENST00000380534.4	-	2	430	c.151G>T	c.(151-153)Gag>Tag	p.E51*	FAM154A_ENST00000583128.1_5'UTR|FAM154A_ENST00000380530.1_Nonsense_Mutation_p.E51*|FAM154A_ENST00000542071.1_5'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	50	78	0	127	51										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TTGAAGGACTCTCTGGGCAGG	0.463000													1	1	1	1	1	1	1.000000	53	80	0	137	0	0	0	1	0	137	5
HAUS6	54801	broad.mit.edu	37	9	19093207	19093207	+	Missense_Mutation	SNP	C	C	A	rs142253364		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19093207C>A	ENST00000380502.3	-	4	865	c.398G>T	c.(397-399)aGa>aTa	p.R133I	HAUS6_ENST00000380496.1_5'UTR	NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	14	25	0	25	133					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCAACAAATCTTGCAAAATG	0.284000													0	1	1	0	1	1	0.999921	14	26	0	26	1	9.417791e-01	5	7	0	26	3
DENND4C	55667	broad.mit.edu	37	9	19296187	19296187	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19296187T>G	ENST00000380432.2	+	2	308	c.275T>G	c.(274-276)tTt>tGt	p.F92C	DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000602925.1_Missense_Mutation_p.F328C|DENND4C_ENST00000434457.2_Missense_Mutation_p.F328C	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	34	64	0	78	92	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTTAGGAAATTTCTTATGTTT	0.368000													1	1	1	1	0	1	1.000000	35	73	0	82	0	1.090909e-01	0	2	0	82	4
DENND4C	55667	broad.mit.edu	37	9	19346945	19346945	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19346945C>A	ENST00000307015.9	+	19	3494	c.1742C>A	c.(1741-1743)tCt>tAt	p.S581Y	DENND4C_ENST00000602925.1_Missense_Mutation_p.S1344Y|DENND4C_ENST00000380432.2_Missense_Mutation_p.S1108Y|DENND4C_ENST00000434457.2_Missense_Mutation_p.S1393Y|DENND4C_ENST00000540671.1_Missense_Mutation_p.S438Y			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	10	32	0	39	1108						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTAGTAAATTCTTTGTCAGGG	0.463000													1	1	1	1	1	1	0.999063	11	32	0	39	1	9.567616e-01	11	8	0	39	5
SLC24A2	25769	broad.mit.edu	37	9	19576994	19576994	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:19576994G>T	ENST00000341998.2	-	5	1217	c.1156C>A	c.(1156-1158)Ctc>Atc	p.L386I	SLC24A2_ENST00000286344.3_Missense_Mutation_p.L369I	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	38	55	0	106	386					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		ATCTTGTGGAGAATTGAAGCC	0.502000													1	1	1	1	1	1	1.000000	42	62	0	118	0	0	0	0	0	118	5
MLLT3	4300	broad.mit.edu	37	9	20414132	20414132	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:20414132C>A	ENST00000380338.4	-	5	998	c.712G>T	c.(712-714)Gaa>Taa	p.E238*	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Nonsense_Mutation_p.E235*|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	64	124	0	187	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		GGTTTATTTTCTTTGGGTTTC	0.383000			T	MLL	ALL								1	1	1	1	1	1	1.000000	70	134	0	201	1	9.987617e-01	4	19	0	201	5
FOCAD	54914	broad.mit.edu	37	9	20740310	20740310	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:20740310A>C	ENST00000380249.1	+	7	727	c.363A>C	c.(361-363)gaA>gaC	p.E121D	FOCAD_ENST00000338382.6_Missense_Mutation_p.E121D	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	19	34	0	57	121						integral to membrane	binding										AAGGTGGGGAAAAGAATATTC	0.289000													1	1	1	1	1	1	1.000000	21	41	0	69	1	9.657929e-01	10	4	0	69	5
IFNA7	3444	broad.mit.edu	37	9	21201822	21201822	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21201822G>A	ENST00000239347.3	-	1	382	c.343C>T	c.(343-345)Caa>Taa	p.Q115*		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	59	100	0	190	115					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			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCATTCAGTTGCTGGTAAAGT	0.478000													0	0	1	1	0	1	1.000000	59	102	0	156	0	0	0	0	0	156	2
KLHL9	55958	broad.mit.edu	37	9	21334077	21334077	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21334077C>T	ENST00000359039.4	-	1	1302	c.782G>A	c.(781-783)aGa>aAa	p.R261K	KLHL9_ENST00000537938.1_Missense_Mutation_p.R193K			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	24	56	0	59	261					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATTGTCTGTTCTCATGAAATC	0.413000													1	1	1	1	1	1	1.000000	27	57	0	63	1	9.974055e-01	13	11	0	63	5
IFNA2	3440	broad.mit.edu	37	9	21384820	21384820	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21384820A>C	ENST00000380206.2	-	1	576	c.509T>G	c.(508-510)aTc>aGc	p.I170S		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	81	141	0	194	170					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|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			breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGATCTCATGATTTCTGCTCT	0.383000													1	1	1	1	1	1	1.000000	86	154	0	223	0	0	0	0	0	223	5
IFNA2	3440	broad.mit.edu	37	9	21384886	21384886	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21384886C>A	ENST00000380206.2	-	1	510	c.443G>T	c.(442-444)aGa>aTa	p.R148I		NM_000605.3	NP_000596.2	P01563	IFNA2_HUMAN	interferon, alpha 2	84	155	0	203	148					blood coagulation|cell-cell signaling|induction of apoptosis|inflammatory response|negative regulation of interleukin-13 secretion|negative regulation of interleukin-5 secretion|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of transcription, DNA-dependent|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	p.R148I(1)		breast(2)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	13				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)	Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GAGAGTGATTCTTTGGAAGTA	0.468000													1	1	1	1	1	1	1.000000	89	166	0	216	0	0	0	0	0	216	5
MTAP	4507	broad.mit.edu	37	9	21815500	21815500	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21815500G>A	ENST00000380172.4	+	2	308	c.102G>A	c.(100-102)gtG>gtA	p.V34V	MTAP_ENST00000580900.1_Silent_p.V34V|MTAP_ENST00000427788.2_3'UTR|MTAP_ENST00000460874.2_Silent_p.V51V|RP11-145E5.5_ENST00000404796.2_Silent_p.V34V	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	13	22	0	45	34					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	AAAAATATGTGGATACTCCAT	0.323000													1	1	1	1	0	1	0.999919	14	27	0	49	1	9.962410e-01	11	12	0	49	4
CDKN2A	1029	broad.mit.edu	37	9	21974699	21974699	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:21974699C>A	ENST00000304494.5	-	1	398	c.128G>T	c.(127-129)aGt>aTt	p.S43I	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.S43I|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.S43I|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.S43I|CDKN2A_ENST00000498628.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	19	143	1	176	43					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 kinase binding	p.0?(1315)|p.?(23)|p.S43I(6)|p.S43fs*76(1)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		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)		CCGACCGTAACTATTCGGTGC	0.687000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			1	1	1	1	0	1	0.998470	19	155	1	182	1	9.999999e-01	49	758	1	182	4
TEK	7010	broad.mit.edu	37	9	27202911	27202911	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:27202911C>A	ENST00000380036.4	+	13	2445	c.2003C>A	c.(2002-2004)tCt>tAt	p.S668Y	TEK_ENST00000406359.4_Missense_Mutation_p.S625Y|TEK_ENST00000519097.1_Missense_Mutation_p.S521Y	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	29	59	0	90	668	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			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TATTCTATTTCTTCTATTACT	0.403000													1	1	1	1	1	1	1.000000	31	61	0	95	0	2.709966e-01	0	3	0	95	5
TAF1L	138474	broad.mit.edu	37	9	32633900	32633900	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:32633900G>T	ENST00000242310.4	-	1	1767	c.1678C>A	c.(1678-1680)Ctc>Atc	p.L560I	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	14	207	0	259	560					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			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGCCCAAGAGAATTCGACTC	0.448000													1	0	1	1	0	1	0.999888	15	219	0	274	0	0	0	0	0	274	3
ANKRD18B	441459	broad.mit.edu	37	9	33566441	33566441	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:33566441G>A	ENST00000290943.6	+	13	2595	c.2499G>A	c.(2497-2499)tcG>tcA	p.S833S		NM_001244752.1	NP_001231681.1			ankyrin repeat domain 18B	9	17	0	17											NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						AATATAAATCGGAGCTGGATG	0.313000													1	0	0	1	0	1	0.998417	10	21	0	18	0	0	0	1	0	18	2
DCAF12	25853	broad.mit.edu	37	9	34088497	34088497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:34088497C>A	ENST00000361264.4	-	9	1554	c.1213G>T	c.(1213-1215)Gaa>Taa	p.E405*	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	38	71	0	116	405						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CTCCAGGTTTCATCATGATTC	0.483000													1	1	1	1	1	1	1.000000	40	77	0	127	1	1	42	51	0	127	5
UBAP1	51271	broad.mit.edu	37	9	34250704	34250704	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:34250704G>A	ENST00000536252.1	+	7	1713	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	UBAP1_ENST00000379186.4_Missense_Mutation_p.D378N|UBAP1_ENST00000545103.1_Missense_Mutation_p.D503N|UBAP1_ENST00000297661.4_Missense_Mutation_p.D439N|UBAP1_ENST00000540348.1_Missense_Mutation_p.D439N|UBAP1_ENST00000543944.1_Missense_Mutation_p.D475N|UBAP1_ENST00000359544.2_Missense_Mutation_p.D439N	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	21	47	0	50	439						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GAAGGGCTTCGACCCTCTTTT	0.468000													1	1	1	1	1	1	1.000000	24	53	0	57	1	1	45	63	0	57	5
SIGMAR1	10280	broad.mit.edu	37	9	34637346	34637346	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:34637346G>A	ENST00000277010.4	-	2	296	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000378892.1_5'UTR|SIGMAR1_ENST00000477726.1_Missense_Mutation_p.P75S	NM_005866.2	NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	8	13	0	24	75					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			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	TCCTCGTCGGGCAGCACGTGG	0.677000													1	1	1	1	1	1	0.997387	9	13	0	25	1	9.999996e-01	38	44	0	25	5
C9orf131	138724	broad.mit.edu	37	9	35044595	35044595	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35044595G>A	ENST00000312292.5	+	2	2016	c.1969G>A	c.(1969-1971)Gta>Ata	p.V657I	C9orf131_ENST00000354479.5_Missense_Mutation_p.V584I|C9orf131_ENST00000421362.2_Missense_Mutation_p.V609I	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	39	73	0	123	657										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AAAGTCCCACGTAAGTGAGCC	0.527000													1	1	1	1	1	1	1.000000	42	79	0	132	0	0	0	0	0	132	5
VCP	7415	broad.mit.edu	37	9	35060826	35060826	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35060826A>G	ENST00000358901.6	-	12	2349	c.1454T>C	c.(1453-1455)gTc>gCc	p.V485A		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	37	90	0	106	485					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			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCACGTTTGACATCCTCTAG	0.547000													1	1	1	1	1	1	1.000000	41	99	0	113	1	1	252	248	0	113	5
FANCG	2189	broad.mit.edu	37	9	35079490	35079490	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35079490C>T	ENST00000378643.3	-	1	523	c.32G>A	c.(31-33)aGc>aAc	p.S11N		NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	28	52	0	116	11					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTCCAGGCAGCTGGAGCCCAC	0.627000			Mis, N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks					1	1	1	1	1	1	1.000000	33	63	0	134	1	9.999999e-01	23	35	0	134	5
NPR2	4882	broad.mit.edu	37	9	35807134	35807134	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35807134C>T	ENST00000342694.2	+	17	2889	c.2634C>T	c.(2632-2634)acC>acT	p.T878T		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	13	42	1	75	878	Guanylate cyclase.				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			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	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)	CAGAGAGCACCCCCATGCAGG	0.522000													1	0	1	1	1	1	0.996683	15	43	1	79	1	9.161918e-01	3	12	1	79	4
FAM221B	392307	broad.mit.edu	37	9	35825872	35825872	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35825872C>A	ENST00000423537.2	-	2	556	c.287G>T	c.(286-288)aGt>aTt	p.S96I	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	25	123	0	152	96										endometrium(2)|kidney(1)|lung(4)	7						TGAGATGGGACTATCCAATGA	0.512000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	0	1	1	1	1.000000	25	129	0	157	0	0	0	1	0	157	4
OR13J1	392309	broad.mit.edu	37	9	35869824	35869824	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35869824G>A	ENST00000377981.2	-	1	637	c.575C>T	c.(574-576)aCg>aTg	p.T192M		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	25	50	0	86	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGACCGACGTGTTGCCGCA	0.597000													1	1	1	1	1	1	1.000000	27	51	0	87	0	0	0	0	0	87	5
OR2S2	56656	broad.mit.edu	37	9	35957906	35957906	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:35957906G>T	ENST00000341959.2	-	1	245	c.190C>A	c.(190-192)Cta>Ata	p.L64I		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	4	63	0	64	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F53>?(1)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTTCCCTAGGAAGAAGTAC	0.562000													1	1	0	1	0	1	0.982256	7	72	0	66	0	0	0	0	0	66	3
CCIN	881	broad.mit.edu	37	9	36169834	36169834	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:36169834A>G	ENST00000335119.2	+	1	446	c.335A>G	c.(334-336)aAc>aGc	p.N112S		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	25	44	0	64	112	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CAGTATTTCAACACACCACGC	0.527000													1	1	1	1	1	1	1.000000	25	48	0	70	0	0	0	0	0	70	5
TOMM5	401505	broad.mit.edu	37	9	37588877	37588877	+	Nonstop_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:37588877A>G	ENST00000401811.3	-	2	366	c.295T>C	c.(295-297)Tga>Cga	p.*99R	TOMM5_ENST00000321301.6_3'UTR|TOMM5_ENST00000544379.1_3'UTR|TOMM5_ENST00000377773.5_3'UTR|RP11-613M10.9_ENST00000540557.1_3'UTR|RP11-613M10.8_ENST00000537239.2_3'UTR			Q8N4H5	TOM5_HUMAN	translocase of outer mitochondrial membrane 5 homolog (yeast)	8	21	0	32	0						integral to membrane|mitochondrial outer membrane translocase complex											TCGTGCATTCATATGTGATGT	0.363000													1	0	1	1	0	1	0.998130	10	29	0	38	1	1	268	310	0	38	3
FRMPD1	22844	broad.mit.edu	37	9	37737115	37737115	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:37737115C>T	ENST00000539465.1	+	14	2017	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	FRMPD1_ENST00000541302.1_Missense_Mutation_p.S344F|FRMPD1_ENST00000536622.1_Missense_Mutation_p.S297F|FRMPD1_ENST00000377765.3_Missense_Mutation_p.S475F|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	32	59	0	100	475	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGCTGGAATCCAACAGTGCA	0.458000													1	1	1	1	1	1	1.000000	34	64	0	117	0	0	0	0	0	117	5
FRMPD1	22844	broad.mit.edu	37	9	37745053	37745053	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:37745053T>C	ENST00000539465.1	+	16	3617	c.3024T>C	c.(3022-3024)caT>caC	p.H1008H	FRMPD1_ENST00000377765.3_Silent_p.H1008H|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	29	130	0	173	1008						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCATAGAGCATGGAGACAGCT	0.532000													1	1	1	1	1	1	1.000000	32	137	0	182	0	0	0	0	0	182	5
CNTNAP3	79937	broad.mit.edu	37	9	39140537	39140537	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:39140537G>T	ENST00000297668.6	-	12	1928	c.1855C>A	c.(1855-1857)Ctt>Att	p.L619I	CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L619I|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L619I|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L531I|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.L526I	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	26	51	0	66	619	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGTACACAAGAAATGGTCCC	0.433000													1	1	1	1	1	1	1.000000	28	55	0	65	0	0	0	0	0	65	5
ZNF658	26149	broad.mit.edu	37	9	40772234	40772234	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:40772234C>A	ENST00000602553.1	-	5	3335	c.3041G>T	c.(3040-3042)aGa>aTa	p.R1014I	ZNF658_ENST00000377626.3_Missense_Mutation_p.R1014I|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	38	84	0	171	1014					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTGTGAATTCTCTGGTGTAC	0.443000													0	0	1	1	0	1	1.000000	45	86	0	109	0	1.213107e-01	0	2	0	109	2
ZNF658	26149	broad.mit.edu	37	9	40774078	40774078	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:40774078G>T	ENST00000602553.1	-	5	1491	c.1197C>A	c.(1195-1197)ctC>ctA	p.L399L	ZNF658_ENST00000377626.3_Silent_p.L399L|ZNF658_ENST00000441795.1_Silent_p.L397L			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	63	306	0	387	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GATGCTGAATGAGGTGTGCTT	0.403000													1	1	1	1	1	1	1.000000	64	323	0	410	1	3.959834e-01	4	4	0	410	5
PIP5K1B	8395	broad.mit.edu	37	9	71491678	71491678	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:71491678G>T	ENST00000265382.3	+	6	591	c.286G>T	c.(286-288)Gaa>Taa	p.E96*	PIP5K1B_ENST00000541509.1_Nonsense_Mutation_p.E96*	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	11	51	0	56	96	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		ATATTTCAGAGAACTTTTTGG	0.383000													1	0	1	1	1	1	0.998835	11	53	0	58	0	0	0	0	0	58	4
GDA	9615	broad.mit.edu	37	9	74817652	74817652	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:74817652A>G	ENST00000358399.3	+	3	471	c.378A>G	c.(376-378)agA>agG	p.R126R	GDA_ENST00000545168.1_Silent_p.R52R|GDA_ENST00000238018.4_Silent_p.R126R|GDA_ENST00000376989.3_Silent_p.R101R|GDA_ENST00000376986.1_Silent_p.R84R|GDA_ENST00000477618.1_3'UTR	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	11	113	0	159	126					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TATATACCAGAGTTGTCGTAA	0.398000													1	1	1	1	0	1	0.999252	12	129	0	182	1	7.705977e-01	2	30	0	182	4
ZFAND5	0	broad.mit.edu	37	9	74975687	74975687	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:74975687T>G	ENST00000237937.3	-	2	565	c.8A>C	c.(7-9)cAg>cCg	p.Q3P	ZFAND5_ENST00000343431.2_Missense_Mutation_p.Q3P|ZFAND5_ENST00000376960.4_Missense_Mutation_p.Q3P|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Missense_Mutation_p.Q3P	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	5	99	0	112	3							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						GTTAGTCTCCTGAGCCATATT	0.388000													0	0	1	0	0	1	0.939005	5	106	0	118	1	8.891235e-01	11	75	0	118	1
ALDH1A1	216	broad.mit.edu	37	9	75545819	75545819	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:75545819G>A	ENST00000297785.3	-	3	342	c.288C>T	c.(286-288)atC>atT	p.I96I	ALDH1A1_ENST00000376939.1_Silent_p.I96I|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	36	69	0	105	96					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity	p.I96I(1)|p.I110I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GATCTCTTTCGATTAAATCAG	0.483000													1	1	1	1	1	1	1.000000	43	77	0	124	1	9.999997e-01	22	27	0	124	5
RORB	6096	broad.mit.edu	37	9	77275552	77275552	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:77275552C>A	ENST00000376896.2	+	5	1269	c.657C>A	c.(655-657)atC>atA	p.I219I	RORB_ENST00000396204.2_Silent_p.I230I	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	39	67	0	118	230	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			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CACAGAACATCATTAAGTCCC	0.378000													1	0	1	1	1	1	1.000000	42	77	1	137	0	0	0	0	1	137	4
PRUNE2	158471	broad.mit.edu	37	9	79318459	79318459	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:79318459T>G	ENST00000428286.1	-	9	8193	c.6993A>C	c.(6991-6993)gaA>gaC	p.E2331D	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2690D			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	31	43	0	65	2690					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACCAGAGGCTTCCTCTAGTG	0.552000													1	1	1	1	1	1	1.000000	32	45	0	67	0	0	0	0	0	67	5
PRUNE2	158471	broad.mit.edu	37	9	79324748	79324748	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:79324748A>C	ENST00000428286.1	-	8	2565	c.1365T>G	c.(1363-1365)aaT>aaG	p.N455K	PRUNE2_ENST00000376718.3_Missense_Mutation_p.N814K			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	10	23	0	32	814					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AATTCCAGGTATTTTTTAAAG	0.478000													1	1	1	1	1	1	0.999625	12	25	0	32	0	0	0	0	0	32	5
PRUNE2	158471	broad.mit.edu	37	9	79520871	79520871	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:79520871T>C	ENST00000376718.3	-	1	132	c.9A>G	c.(7-9)gaA>gaG	p.E3E	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.E3E	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	35	48	0	76	3					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTTGCAAAAATTCTTCCATGT	0.557000													1	1	1	1	1	1	1.000000	37	57	0	87	0	0	0	0	0	87	5
TLE4	7091	broad.mit.edu	37	9	82191078	82191078	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:82191078G>T	ENST00000376520.4	+	4	1066	c.238G>T	c.(238-240)Gaa>Taa	p.E80*	TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Nonsense_Mutation_p.E80*|TLE4_ENST00000376544.3_Nonsense_Mutation_p.E80*|TLE4_ENST00000376552.2_Nonsense_Mutation_p.E80*|TLE4_ENST00000265284.6_Nonsense_Mutation_p.E80*			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	23	41	0	59	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GTTGAATATAGAAATGCACAA	0.303000													1	1	1	1	1	1	1.000000	27	44	0	67	1	9.998676e-01	8	21	0	67	5
RASEF	158158	broad.mit.edu	37	9	85611950	85611950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:85611950G>A	ENST00000376447.3	-	14	2157	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	11	26	0	49	633					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACCCATTCTCGTATGTTAAGA	0.373000													1	1	1	1	1	1	0.999808	13	29	0	59	0	6.889212e-01	1	6	0	59	5
KIF27	55582	broad.mit.edu	37	9	86465162	86465162	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:86465162T>G	ENST00000297814.2	-	16	3551	c.3408A>C	c.(3406-3408)gaA>gaC	p.E1136D	RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1039D|KIF27_ENST00000413982.1_Missense_Mutation_p.E1070D	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	14	46	0	76	1136					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCATTTTCATTTCTTCATTAT	0.383000													1	1	1	1	1	1	0.999876	14	46	0	75	1	5.990396e-01	4	4	0	75	5
NAA35	60560	broad.mit.edu	37	9	88590040	88590040	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:88590040G>T	ENST00000361671.5	+	8	728	c.595G>T	c.(595-597)Gat>Tat	p.D199Y	NAA35_ENST00000376040.1_Missense_Mutation_p.D199Y	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	18	36	0	50	199					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CATGCTAAAAGATGTGGAGGA	0.294000													1	1	1	1	1	1	1.000000	21	42	0	59	1	9.998199e-01	14	21	0	59	5
NAA35	60560	broad.mit.edu	37	9	88622302	88622302	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:88622302C>A	ENST00000361671.5	+	14	1279	c.1146C>A	c.(1144-1146)gtC>gtA	p.V382V		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	7	100	0	111	382					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						ACAAAAAGGTCTTTGGAACTC	0.383000													1	0	1	1	0	1	0.990118	8	119	0	129	1	6.164070e-01	2	29	0	129	3
ZCCHC6	79670	broad.mit.edu	37	9	88955947	88955947	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:88955947A>C	ENST00000375961.2	-	7	1322	c.1108T>G	c.(1108-1110)Tta>Gta	p.L370V	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.L370V|ZCCHC6_ENST00000375948.1_Missense_Mutation_p.L8V|ZCCHC6_ENST00000375960.2_Intron			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	14	52	0	70	370					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TGAACAAGTAAGAGGACATCT	0.313000													1	1	1	1	1	1	0.999993	18	60	0	84	1	5.168681e-01	3	4	0	84	5
SPIN1	10927	broad.mit.edu	37	9	91090060	91090060	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:91090060A>C	ENST00000375859.3	+	6	935	c.657A>C	c.(655-657)gaA>gaC	p.E219D	SPIN1_ENST00000541629.1_Missense_Mutation_p.E219D|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	17	45	0	81	219					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AACAAGTGGAATATGCCAAAG	0.393000													1	1	1	1	1	1	0.999997	19	55	0	100	1	9.999717e-01	24	35	0	100	5
NFIL3	4783	broad.mit.edu	37	9	94171927	94171927	+	Missense_Mutation	SNP	C	C	T	rs34945709		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:94171927C>T	ENST00000297689.3	-	2	1484	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	48	91	0	144	364					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			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTCGAGTTCGAAATGTCTT	0.408000													1	1	1	1	1	1	1.000000	57	95	0	156	1	1	50	98	0	156	5
NFIL3	4783	broad.mit.edu	37	9	94172299	94172299	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:94172299T>C	ENST00000297689.3	-	2	1112	c.718A>G	c.(718-720)Aca>Gca	p.T240A		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	26	56	0	98	240					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			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						ATGGACGCTGTGTAAGAGCCT	0.488000													1	1	1	1	1	1	1.000000	26	59	0	115	1	1	43	68	0	115	5
SPTLC1	10558	broad.mit.edu	37	9	94874756	94874756	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:94874756C>T	ENST00000262554.2	-	2	151	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.R49Q	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	6	19	0	22	49						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AAGATCAGATCGTTCTTGTAA	0.363000													0	0	1	1	1	1	0.985528	7	21	0	23	0	0	0	1	0	23	3
ASPN	54829	broad.mit.edu	37	9	95237107	95237107	+	Missense_Mutation	SNP	C	C	T	rs146516859		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:95237107C>T	ENST00000375544.3	-	2	316	c.73G>A	c.(73-75)Gca>Aca	p.A25T	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000450139.2_5'UTR|ASPN_ENST00000375543.1_Missense_Mutation_p.A25T|ASPN_ENST00000395538.3_Missense_Mutation_p.A25T	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	17	21	0	28	25					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TTCTTCAGTGCGATGTGTGAA	0.423000													1	1	1	1	1	1	0.999997	18	24	0	32	0	9.950732e-01	0	3	0	32	5
ZNF484	83744	broad.mit.edu	37	9	95608521	95608521	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:95608521A>G	ENST00000395505.2	-	3	2532	c.2440T>C	c.(2440-2442)Tct>Cct	p.S814P	ZNF484_ENST00000332591.6_Missense_Mutation_p.S814P|ZNF484_ENST00000395506.3_Missense_Mutation_p.S852P|ZNF484_ENST00000375495.3_Missense_Mutation_p.S850P|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	33	62	0	101	850					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TAGATAGAAGAAAGTTGGCCT	0.423000													1	1	1	1	1	1	1.000000	37	64	0	117	1	8.907776e-01	2	7	0	117	5
SUSD3	203328	broad.mit.edu	37	9	95840161	95840161	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:95840161T>C	ENST00000375472.3	+	3	347	c.311T>C	c.(310-312)gTg>gCg	p.V104A	SUSD3_ENST00000375469.1_Missense_Mutation_p.V91A	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	23	54	0	76	104						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						GGCTTCAAGGTGGCCGTGATC	0.597000													1	1	1	1	1	1	1.000000	24	58	0	84	0	2.115666e-01	0	3	0	84	5
PTCH1	5727	broad.mit.edu	37	9	98244436	98244436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:98244436C>A	ENST00000430669.2	-	4	1021	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	PTCH1_ENST00000468211.2_Nonsense_Mutation_p.E146*|PTCH1_ENST00000375274.2_Nonsense_Mutation_p.E211*|PTCH1_ENST00000331920.6_Nonsense_Mutation_p.E212*|PTCH1_ENST00000437951.1_Nonsense_Mutation_p.E146*|PTCH1_ENST00000429896.2_Nonsense_Mutation_p.E61*|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000421141.1_Nonsense_Mutation_p.E61*|PTCH1_ENST00000418258.1_Nonsense_Mutation_p.E61*			Q13635	PTC1_HUMAN	patched 1	18	26	0	30	212					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.E212fs*40(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TAACCTGTTTCTGTGATAAGC	0.363000													1	1	1	1	1	1	0.999999	19	29	0	34	0	0	0	1	0	34	5
ERCC6L2	375748	broad.mit.edu	37	9	98684594	98684594	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:98684594C>A	ENST00000288985.7	+	8	1645	c.1340C>A	c.(1339-1341)tCt>tAt	p.S447Y	ERCC6L2_ENST00000437817.1_Missense_Mutation_p.S258Y|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	13	12	0	26	447					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										CAGACCAATTCTCATGGTGAA	0.368000													1	1	1	1	1	1	0.999965	14	13	0	29	1	9.279502e-01	3	4	0	29	5
ZNF510	22869	broad.mit.edu	37	9	99521061	99521061	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:99521061C>T	ENST00000375231.1	-	6	2701	c.2051G>A	c.(2050-2052)tGa>tAa	p.*684*	ZNF510_ENST00000223428.4_Silent_p.*684*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	7	29	0	34	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTATTACATCAATAGGGATT	0.358000													1	0	1	1	1	1	0.991943	8	32	0	38	1	2.952477e-01	2	3	0	38	4
CTSV	1515	broad.mit.edu	37	9	99797041	99797041	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:99797041G>A	ENST00000259470.5	-	7	1121	c.872C>T	c.(871-873)tCg>tTg	p.S291L	CTSV_ENST00000538255.1_Missense_Mutation_p.S291L	NM_001333.3	NP_001324.2			cathepsin V	22	37	0	62									p.S291L(1)									GCTGTTATTCGAATTTGCTCC	0.378000													1	0	1	1	1	1	0.999996	27	42	1	68	1	9.999784e-01	19	35	1	68	4
NCBP1	4686	broad.mit.edu	37	9	100418013	100418013	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:100418013G>A	ENST00000375147.3	+	13	1521	c.1265G>A	c.(1264-1266)aGt>aAt	p.S422N		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	5	23	0	22	422					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			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CATCATCTAAGTAACTTCCAG	0.343000													1	0	1	1	1	1	0.970533	6	24	0	26	1	9.762361e-01	14	18	0	26	4
HEMGN	55363	broad.mit.edu	37	9	100692679	100692679	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:100692679A>C	ENST00000259456.3	-	4	1141	c.998T>G	c.(997-999)aTt>aGt	p.I333S		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	8	132	0	127	333					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTTAGGCACAATAATTTCGTT	0.348000													1	1	1	1	0	1	0.989996	8	140	0	132	0	0	0	0	0	132	4
TBC1D2	55357	broad.mit.edu	37	9	100961799	100961799	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:100961799A>G	ENST00000375066.5	-	13	2709	c.2618T>C	c.(2617-2619)gTc>gCc	p.V873A	TBC1D2_ENST00000342112.5_Missense_Mutation_p.V666A|TBC1D2_ENST00000375063.1_Missense_Mutation_p.V424A|TBC1D2_ENST00000375064.1_3'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	89	171	0	353	884						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CTCCCGGTGGACCATGCGCAG	0.637000													1	1	1	1	1	1	1.000000	96	194	0	399	1	1	39	45	0	399	5
GABBR2	9568	broad.mit.edu	37	9	101340240	101340240	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101340240G>T	ENST00000259455.2	-	2	895	c.436C>A	c.(436-438)Ctc>Atc	p.L146I		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	22	47	0	85	146					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		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CAGCCTTGGAGGGACTCTGCA	0.493000													1	1	1	1	1	1	1.000000	24	53	0	97	0	0	0	0	0	97	5
GALNT12	79695	broad.mit.edu	37	9	101585576	101585576	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101585576G>T	ENST00000375011.3	+	2	410	c.410G>T	c.(409-411)aGg>aTg	p.R137M		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	20	37	0	54	137	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				AATTTGCCCAGGACATCTGTT	0.453000													1	1	1	1	1	1	1.000000	21	40	0	57	1	9.997659e-01	16	16	0	57	5
GALNT12	79695	broad.mit.edu	37	9	101589141	101589141	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101589141T>C	ENST00000375011.3	+	3	649	c.649T>C	c.(649-651)Tct>Cct	p.S217P		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	7	10	0	12	217	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GCTGGGGGCGTCTGCGGCGAG	0.667000													0	1	1	1	1	1	0.988321	7	11	0	12	1	9.999570e-01	27	27	0	12	4
GALNT12	79695	broad.mit.edu	37	9	101594117	101594117	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:101594117C>T	ENST00000375011.3	+	4	795	c.795C>T	c.(793-795)ttC>ttT	p.F265F		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	25	23	0	57	265						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GGAACACCTTCGAATACCTGG	0.572000													1	1	1	1	1	1	1.000000	27	27	0	58	1	1	27	22	0	58	5
LPPR1	0	broad.mit.edu	37	9	104032271	104032271	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104032271C>A	ENST00000374874.3	+	3	612	c.173C>A	c.(172-174)cCt>cAt	p.P58H	LPPR1_ENST00000395056.2_Missense_Mutation_p.P58H	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		7	38	0	54	58						integral to membrane	catalytic activity										TTAATGAAGCCTTACCCAGGG	0.483000													1	1	1	1	0	1	0.983544	7	39	0	57	0	0	0	0	0	57	4
ZNF189	7743	broad.mit.edu	37	9	104171636	104171636	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104171636G>A	ENST00000374861.3	+	3	1828	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	ZNF189_ENST00000259395.4_Missense_Mutation_p.R487Q|ZNF189_ENST00000339664.2_Missense_Mutation_p.R529Q	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	11	38	0	69	529					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AATCTTATTCGACATCAGGGT	0.423000													1	1	1	1	1	1	0.998957	11	40	0	78	1	8.529584e-01	6	9	0	78	5
RNF20	56254	broad.mit.edu	37	9	104316985	104316985	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104316985C>A	ENST00000389120.3	+	15	2119	c.2029C>A	c.(2029-2031)Cta>Ata	p.L677I		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	10	24	0	36	677					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			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		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)		GTTGGAAGATCTAAGGCAAAG	0.363000													1	1	1	1	1	1	0.999166	11	26	0	37	1	9.952185e-01	11	16	0	37	5
PPP3R2	5535	broad.mit.edu	37	9	104357195	104357195	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:104357195G>A	ENST00000374806.1	-	1	88	c.18C>T	c.(16-18)aaC>aaT	p.N6N	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	36	53	0	105	3							calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	AACTGGCCTCGTTTCCCATTG	0.592000													1	1	1	1	1	1	1.000000	37	58	0	118	0	0	0	0	0	118	5
OR13C4	138804	broad.mit.edu	37	9	107289097	107289097	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107289097A>C	ENST00000277216.3	-	1	393	c.394T>G	c.(394-396)Tac>Gac	p.Y132D		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	20	97	0	121	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						ATGATGGGGTATCTCAGAGGG	0.453000													1	1	1	1	1	1	0.999997	20	99	0	124	0	0	0	0	0	124	5
ABCA1	19	broad.mit.edu	37	9	107548664	107548664	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107548664C>A	ENST00000374736.3	-	48	6710	c.6316G>T	c.(6316-6318)Gaa>Taa	p.E2106*		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	21	44	0	86	2106	ABC transporter 2.				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			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCTTCACATTCTTCCATACTG	0.413000													1	1	1	1	1	1	1.000000	23	49	0	95	0	0	0	1	0	95	5
ABCA1	19	broad.mit.edu	37	9	107595031	107595031	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107595031T>C	ENST00000374736.3	-	12	1727	c.1333A>G	c.(1333-1335)Aat>Gat	p.N445D		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	19	50	0	72	445					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			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAGTGGTCATTGTCCCTGCTG	0.453000													1	1	1	1	1	1	0.999999	21	55	0	78	0	0	1	0	0	78	5
ABCA1	19	broad.mit.edu	37	9	107620980	107620980	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:107620980C>A	ENST00000374736.3	-	7	938		c.e7-1		ABCA1_ENST00000423487.2_Splice_Site	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	25	39	0	86						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			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCAAAAATACCTGGAAGCATT	0.393000													1	1	1	1	1	1	1.000000	29	45	0	91	0	0	0	0	0	91	5
SLC44A1	23446	broad.mit.edu	37	9	108126842	108126842	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:108126842C>A	ENST00000374720.3	+	10	1341	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	SLC44A1_ENST00000374723.1_Missense_Mutation_p.P365H|SLC44A1_ENST00000374724.1_Missense_Mutation_p.P365H|SLC44A1_ENST00000343170.7_Missense_Mutation_p.P157H	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	45	79	1	137	365						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CTAGGCAGTCCTGTTCAGAAT	0.443000													1	0	1	1	1	1	1.000000	48	87	1	150	1	9.999999e-01	30	39	1	150	4
TXN	7295	broad.mit.edu	37	9	113013138	113013138	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:113013138T>C	ENST00000374517.5	-	3	355	c.151A>G	c.(151-153)Aac>Gac	p.N51D	TXN_ENST00000374515.5_Intron	NM_003329.3	NP_003320.2	P10599	THIO_HUMAN	thioredoxin	6	31	0	28	51	Thioredoxin.				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		AATATCACGTTGGAATACTTT	0.363000													1	0	1	1	1	1	0.983838	7	35	0	35	1	1	181	1094	0	35	4
SVEP1	79987	broad.mit.edu	37	9	113275275	113275275	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:113275275G>T	ENST00000401783.2	-	5	1570	c.1234C>A	c.(1234-1236)Ctt>Att	p.L412I	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.L412I|SVEP1_ENST00000374461.1_Missense_Mutation_p.L389I|SVEP1_ENST00000374469.1_Missense_Mutation_p.L389I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	20	42	0	65	412	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTTCCCACAAGATCAAATCCA	0.468000													1	1	1	1	1	1	1.000000	21	44	0	74	0	0	0	0	0	74	5
PTGR1	22949	broad.mit.edu	37	9	114355205	114355205	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:114355205C>A	ENST00000407693.2	-	4	472		c.e4+1		PTGR1_ENST00000238248.3_Splice_Site|PTGR1_ENST00000538962.1_Splice_Site|PTGR1_ENST00000309195.5_Splice_Site	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	9	32	0	62						leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						GAAATAATTACTTGGCCACTT	0.383000													1	0	1	1	1	1	0.998935	11	42	0	74	1	1	9	38	0	74	4
SUSD1	64420	broad.mit.edu	37	9	114864560	114864560	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:114864560C>A	ENST00000374270.3	-	9	1349	c.1177G>T	c.(1177-1179)Gat>Tat	p.D393Y	SUSD1_ENST00000374264.2_Missense_Mutation_p.D393Y|SUSD1_ENST00000374263.3_Missense_Mutation_p.D393Y	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	7	14	0	12	393						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCTAAGAGATCAACTTCTAAA	0.358000													0	0	1	0	0	1	0.987210	7	14	0	12	1	9.720005e-01	6	11	0	12	1
HSDL2	84263	broad.mit.edu	37	9	115216318	115216318	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:115216318G>T	ENST00000398805.3	+	9	1118	c.891G>T	c.(889-891)gaG>gaT	p.E297D	HSDL2_ENST00000262542.7_Missense_Mutation_p.E177D|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000539114.1_Missense_Mutation_p.E92D|HSDL2_ENST00000398803.1_Missense_Mutation_p.E224D	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	20	39	0	58	297						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TCAAAGAAGAGAAACTGCAGC	0.398000													1	1	1	1	1	1	0.999999	20	45	0	61	1	9.999992e-01	35	31	0	61	5
SLC46A2	57864	broad.mit.edu	37	9	115652731	115652731	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:115652731G>T	ENST00000374228.4	-	1	462	c.231C>A	c.(229-231)ttC>ttA	p.F77L		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	10	120	0	161	77						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						AGATAATGTAGAAATTGGAGA	0.607000													1	1	1	1	0	1	0.997216	10	131	0	175	0	0	0	0	0	175	4
ZFP37	7539	broad.mit.edu	37	9	115805272	115805272	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:115805272C>A	ENST00000374227.3	-	4	1653	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	ZFP37_ENST00000553380.1_Missense_Mutation_p.E557D|ZFP37_ENST00000555206.1_Missense_Mutation_p.E543D			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	18	30	0	32	542						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CATACGGTTTCTCTCCAGTAT	0.398000													1	1	1	1	1	1	0.999996	18	32	0	35	1	4.626673e-01	2	2	0	35	5
C9orf43	257169	broad.mit.edu	37	9	116187312	116187312	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:116187312G>A	ENST00000288462.4	+	9	1267	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	C9orf43_ENST00000374165.1_Missense_Mutation_p.R274Q	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	15	18	0	35	274										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						CCAGCACTGCGATATCCTGAA	0.408000													1	1	1	1	1	1	0.999998	18	20	0	44	1	4.634146e-01	2	0	0	44	5
C9orf43	257169	broad.mit.edu	37	9	116187673	116187673	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:116187673G>A	ENST00000288462.4	+	10	1361	c.915G>A	c.(913-915)aaG>aaA	p.K305K	C9orf43_ENST00000374165.1_Silent_p.K305K	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	19	48	0	66	305								p.K305N(1)		breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcaacagAAGAAGGTGAAAA	0.542000													1	1	1	1	1	1	0.999997	19	51	0	67	0	0	0	1	0	67	5
RGS3	5998	broad.mit.edu	37	9	116346160	116346160	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:116346160C>T	ENST00000374140.2	+	21	2677	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F	RGS3_ENST00000374134.3_Missense_Mutation_p.S144F|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000343817.5_Missense_Mutation_p.S542F|RGS3_ENST00000394646.3_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000350696.5_Missense_Mutation_p.S823F|RGS3_ENST00000462143.1_Missense_Mutation_p.S144F	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	64	129	0	229	823					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AGCCAGGTCTCCCTGCCAGCC	0.637000													1	1	1	1	1	1	1.000000	66	134	0	248	1	9.999999e-01	25	29	0	248	5
COL27A1	85301	broad.mit.edu	37	9	117027726	117027726	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:117027726C>A	ENST00000356083.3	+	32	3755	c.3364C>A	c.(3364-3366)Cca>Aca	p.P1122T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	4	35	0	36	1122	Collagen-like 8.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTCAGGCCCCCCAGGCACCAA	0.612000													1	0	1	1	1	1	0.940987	5	44	0	42	1	8.065670e-01	8	21	0	42	4
TNC	3371	broad.mit.edu	37	9	117845063	117845063	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:117845063T>C	ENST00000350763.4	-	5	2566	c.2155A>G	c.(2155-2157)Aaa>Gaa	p.K719E	TNC_ENST00000537320.1_Missense_Mutation_p.K719E|TNC_ENST00000346706.3_Missense_Mutation_p.K719E|TNC_ENST00000340094.3_Missense_Mutation_p.K719E|TNC_ENST00000535648.1_Missense_Mutation_p.K719E|TNC_ENST00000341037.4_Missense_Mutation_p.K719E|TNC_ENST00000542877.1_Missense_Mutation_p.K719E|TNC_ENST00000345230.3_Missense_Mutation_p.K719E|TNC_ENST00000423613.2_Missense_Mutation_p.K719E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	19	30	0	37	719	Fibronectin type-III 2.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTTGAATTTCAGGCCTTCA	0.463000													1	1	1	1	1	1	1.000000	22	32	0	39	1	1	59	53	0	39	5
PAPPA	5069	broad.mit.edu	37	9	118969875	118969875	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:118969875A>G	ENST00000328252.3	+	3	1988	c.1619A>G	c.(1618-1620)cAc>cGc	p.H540R	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	10	29	0	45	540	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCCCTGATGCACTTAGGTGAG	0.453000													1	1	1	1	1	1	0.999048	11	33	0	50	0	0	0	1	0	50	5
TLR4	7099	broad.mit.edu	37	9	120475079	120475079	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:120475079G>T	ENST00000355622.6	+	3	774	c.673G>T	c.(673-675)Gaa>Taa	p.E225*	TLR4_ENST00000394487.4_Nonsense_Mutation_p.E185*|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	12	45	0	60	225					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			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGCATTTAAAGAAATTAGGCT	0.373000													1	1	1	1	1	1	0.999871	14	49	0	61	0	0	0	0	0	61	5
CDK5RAP2	55755	broad.mit.edu	37	9	123201969	123201969	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:123201969T>G	ENST00000349780.4	-	24	3609	c.3430A>C	c.(3430-3432)Att>Ctt	p.I1144L	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.I1112L|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.I1144L|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.I1103L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	33	37	0	50	1144	Interaction with MAPRE1.				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			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AAAACTGTAATTATGGCCTCA	0.443000											OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	38	39	0	55	1	9.999999e-01	16	20	0	55	5
MEGF9	1955	broad.mit.edu	37	9	123367548	123367548	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:123367548A>C	ENST00000373930.3	-	6	1840	c.1729T>G	c.(1729-1731)Ttg>Gtg	p.L577V	MEGF9_ENST00000426959.1_Missense_Mutation_p.L614V	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	44	75	0	103	577						integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TCTTCCAACAATCCCGAAACA	0.483000													1	1	1	1	1	1	1.000000	46	80	0	108	0	0	0	1	0	108	5
PHF19	26147	broad.mit.edu	37	9	123620323	123620323	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:123620323G>A	ENST00000373896.3	-	15	1894	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.R339W	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	36	45	0	92	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGCCAACCGCCCAGCTGCA	0.557000													1	1	1	1	1	1	1.000000	38	47	0	98	1	9.999998e-01	17	23	0	98	5
GSN	2934	broad.mit.edu	37	9	124062336	124062336	+	Translation_Start_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:124062336C>A	ENST00000436847.1	+	0	214				GSN_ENST00000373808.2_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000373818.4_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000394353.2_Intron	NM_001127666.1	NP_001121138.1	P06396	GELS_HUMAN	gelsolin	23	50	0	81						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			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						ATTGTAAGTTCTTGCAGATAC	0.607000													1	0	1	1	0	1	1.000000	25	59	0	86	0	9.999981e-01	0	61	0	86	3
OR1J1	347168	broad.mit.edu	37	9	125239745	125239745	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125239745G>A	ENST00000259357.2	-	1	490	c.461C>T	c.(460-462)gCg>gTg	p.A154V		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	18	28	0	35	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGAGCACACGCACAAGCGAT	0.542000													1	1	1	1	1	1	0.999999	19	28	0	36	0	0	0	0	0	36	5
OR1L4	254973	broad.mit.edu	37	9	125486805	125486805	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125486805C>A	ENST00000259466.1	+	1	537	c.537C>A	c.(535-537)ttC>ttA	p.F179L		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	74	227	0	336	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						AGCACTTTTTCTGTGACACCC	0.507000													0	0	1	1	0	1	1.000000	75	229	0	238	0	0	0	0	0	238	2
OR5C1	392391	broad.mit.edu	37	9	125551852	125551852	+	Missense_Mutation	SNP	C	C	T	rs112939157		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125551852C>T	ENST00000373680.2	+	1	703	c.641C>T	c.(640-642)aCg>aTg	p.T214M		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	22	36	0	55	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CAGACAGCCACGGTGTTAGCT	0.577000													1	1	1	1	1	1	1.000000	22	37	0	59	0	0	0	0	0	59	5
PDCL	5082	broad.mit.edu	37	9	125585323	125585323	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125585323T>C	ENST00000259467.4	-	3	491	c.326A>G	c.(325-327)aAa>aGa	p.K109R		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	58	87	0	131	109					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						CTGGAGGTCTTTCTGTTTCTG	0.507000													1	1	1	1	1	1	1.000000	61	95	0	148	1	9.999992e-01	21	18	0	148	5
ZBTB26	57684	broad.mit.edu	37	9	125682120	125682120	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:125682120A>C	ENST00000373656.3	-	2	167	c.94T>G	c.(94-96)Ttt>Gtt	p.F32V	ZBTB26_ENST00000373654.1_Missense_Mutation_p.F32V	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	10	15	0	18	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						ACATCACAAAATTTATTCTCT	0.328000													0	1	1	1	1	1	0.998664	10	16	0	18	0	3.467980e-01	0	3	0	18	4
NR6A1	2649	broad.mit.edu	37	9	127302467	127302467	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:127302467C>A	ENST00000487099.2	-	5	599		c.e5-1		NR6A1_ENST00000416460.2_Splice_Site|NR6A1_ENST00000373584.3_Splice_Site|NR6A1_ENST00000344523.4_Splice_Site	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	34	66	0	93						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			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CTTCCGATATCTTTGACAAGG	0.453000													1	1	1	1	1	1	1.000000	39	70	0	97	0	0	0	0	0	97	5
PBX3	5090	broad.mit.edu	37	9	128692040	128692040	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:128692040G>A	ENST00000373487.4	+	4	703	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	PBX3_ENST00000342287.5_Missense_Mutation_p.R208Q|PBX3_ENST00000447726.2_Missense_Mutation_p.R133Q|PBX3_ENST00000373483.2_Missense_Mutation_p.R27Q|PBX3_ENST00000373489.5_Missense_Mutation_p.R208Q|PBX3_ENST00000538998.1_3'UTR			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	9	85	0	77	208					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						ATCATCCATCGAAAATTTAGT	0.393000													1	1	1	1	1	1	0.997370	10	90	0	82	0	5.126513e-01	0	16	0	82	5
MVB12B	89853	broad.mit.edu	37	9	129102809	129102809	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:129102809T>G	ENST00000361171.3	+	2	185	c.104T>G	c.(103-105)gTc>gGc	p.V35G	MVB12B_ENST00000545391.1_Missense_Mutation_p.V35G|MVB12B_ENST00000436593.3_Missense_Mutation_p.V20G	NM_033446.2	NP_258257.1			multivesicular body subunit 12B	5	75	0	74																		ATGCCTGAAGTCAAAGACCTC	0.468000													1	0	1	1	0	1	0.939407	5	83	0	91	0	0	0	0	0	91	3
LMX1B	4010	broad.mit.edu	37	9	129453169	129453169	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:129453169C>T	ENST00000355497.5	+	3	388	c.381C>T	c.(379-381)ttC>ttT	p.F127F	LMX1B_ENST00000373474.4_Silent_p.F127F|LMX1B_ENST00000526117.1_Silent_p.F127F|LMX1B_ENST00000561065.1_Silent_p.F104F|LMX1B_ENST00000425646.2_Silent_p.F104F	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	16	23	0	38	104	LIM zinc-binding 2.				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			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CCACCGAGTTCGTGATGCGGG	0.637000									Nail-Patella Syndrome				1	1	1	1	1	1	0.999999	19	27	0	41	0	0	0	0	0	41	5
GLE1	2733	broad.mit.edu	37	9	131302553	131302553	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:131302553G>T	ENST00000309971.4	+	15	2070		c.e15-1		RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Splice_Site	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	9	28	0	33						poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TCTCCCTGTAGAATTGAAGCT	0.493000													1	1	1	1	1	1	0.996041	9	31	0	36	0	0	1	0	0	36	5
IER5L	389792	broad.mit.edu	37	9	131939486	131939486	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:131939486G>A	ENST00000372491.2	-	1	1054	c.846C>T	c.(844-846)tgC>tgT	p.C282C	RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	6	18	0	25	282													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CACAGCAGGGGCAGTGGGCGG	0.682000													1	0	1	1	0	1	0.972020	6	18	0	25	1	1	227	230	0	25	3
ABL1	25	broad.mit.edu	37	9	133748273	133748273	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:133748273T>C	ENST00000318560.5	+	6	1315	c.934T>C	c.(934-936)Tat>Cat	p.Y312H		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	17	70	0	80	312	Protein kinase.				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			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		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)	GCCCCCGTTCTATATCATCAC	0.557000			T, Mis	BCR, ETV6, NUP214	CML, ALL, T-ALL								1	1	1	1	1	1	0.999998	20	76	0	93	1	9.841852e-01	8	21	0	93	5
FIBCD1	84929	broad.mit.edu	37	9	133787197	133787197	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:133787197T>C	ENST00000372338.4	-	5	1170	c.928A>G	c.(928-930)Acc>Gcc	p.T310A	FIBCD1_ENST00000372337.2_Missense_Mutation_p.T152A|FIBCD1_ENST00000253018.4_Missense_Mutation_p.T152A|FIBCD1_ENST00000448616.1_Missense_Mutation_p.T310A	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	5	9	0	14	310	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		TGCTCCCCGGTGAGCCTGCCA	0.667000													1	0	1	1	1	1	0.948337	5	12	0	19	1	8.487756e-01	3	7	0	19	4
LAMC3	10319	broad.mit.edu	37	9	133928021	133928021	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:133928021T>C	ENST00000361069.4	+	10	1907	c.1774T>C	c.(1774-1776)Tct>Cct	p.S592P	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	11	42	0	49	592	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CTCTAGCCTGTCTGGCCCCCA	0.637000											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.998886	11	47	0	50	1	9.792044e-01	16	16	0	50	5
TTF1	7270	broad.mit.edu	37	9	135277008	135277008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:135277008G>A	ENST00000334270.2	-	2	1240	c.1201C>T	c.(1201-1203)Cga>Tga	p.R401*		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	29	72	0	93	401			R -> Q (in dbSNP:rs3739916).		negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CCAGACACTCGTGCCCTTTTG	0.453000													1	1	1	1	1	1	1.000000	30	77	0	97	1	9.775069e-01	4	14	0	97	5
TSC1	0	broad.mit.edu	37	9	135796771	135796771	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:135796771T>C	ENST00000298552.3	-	8	937	c.716A>G	c.(715-717)gAc>gGc	p.D239G	TSC1_ENST00000403810.1_Missense_Mutation_p.D239G|TSC1_ENST00000545250.1_Missense_Mutation_p.D188G|TSC1_ENST00000440111.2_Missense_Mutation_p.D239G	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	16	22	0	30	239					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)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CAGTTCATGGTCCTTGGATCC	0.408000			D, Mis, N, F, S			hamartoma, renal cell			Tuberous Sclerosis				1	1	1	1	1	1	0.999998	18	23	0	33	0	4.150810e-01	1	2	0	33	5
RALGDS	5900	broad.mit.edu	37	9	135983592	135983592	+	Missense_Mutation	SNP	G	G	A	rs151046197		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:135983592G>A	ENST00000393160.3	-	6	1168	c.815C>T	c.(814-816)tCg>tTg	p.S272L	RALGDS_ENST00000542690.1_Missense_Mutation_p.S398L|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Missense_Mutation_p.S327L|RALGDS_ENST00000393157.3_Missense_Mutation_p.S326L|RALGDS_ENST00000372062.3_Missense_Mutation_p.S298L|RALGDS_ENST00000372047.3_Missense_Mutation_p.S315L	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	20	19	0	39	327					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CGCTGGAGCCGATTCTAGTCC	0.597000			T	CIITA	PMBL, Hodgkin Lymphona,								1	1	1	1	1	1	1.000000	21	19	0	40	1	1	12	31	0	40	5
C9orf96	169436	broad.mit.edu	37	9	136268898	136268898	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:136268898G>T	ENST00000371957.3	+	15	1656	c.1549G>T	c.(1549-1551)Gat>Tat	p.D517Y	C9orf96_ENST00000371955.1_Missense_Mutation_p.D50Y	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	10	22	0	32	517							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTACCCTGCGGATGGGGAAAT	0.652000													1	1	1	1	1	1	0.998374	10	22	0	34	0	0	0	0	0	34	5
DBH	1621	broad.mit.edu	37	9	136507486	136507486	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:136507486A>C	ENST00000393056.2	+	3	656	c.644A>C	c.(643-645)gAg>gCg	p.E215A		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	17	35	0	38	215					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			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TGCACCATGGAGGTCCAAGCT	0.587000													1	1	1	1	1	1	1.000000	22	37	0	41	0	0	0	0	0	41	5
OBP2A	29991	broad.mit.edu	37	9	138440590	138440590	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138440590A>C	ENST00000539850.1	+	5	451	c.425A>C	c.(424-426)gAa>gCa	p.E142A	OBP2A_ENST00000340780.3_Missense_Mutation_p.N164H|OBP2A_ENST00000342114.4_Missense_Mutation_p.E119A|OBP2A_ENST00000371776.1_Missense_Mutation_p.E142A			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	34	66	0	90	142					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GCCCTGGAAGAATTTAAGAAA	0.597000													1	1	1	1	1	1	1.000000	34	75	0	100	0	0	0	1	0	100	5
LCN9	392399	broad.mit.edu	37	9	138556129	138556129	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138556129T>C	ENST00000277526.3	+	2	218	c.218T>C	c.(217-219)tTt>tCt	p.F73S	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	44	60	0	111	73						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		AGCCTAATATTTGATTTCGAA	0.488000													1	1	1	1	1	1	1.000000	47	66	0	120	0	0	0	0	0	120	5
KCNT1	57582	broad.mit.edu	37	9	138656879	138656879	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138656879C>T	ENST00000298480.5	+	12	1112	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	KCNT1_ENST00000371757.2_Silent_p.F346F|KCNT1_ENST00000486577.2_Silent_p.F307F|KCNT1_ENST00000488444.2_Silent_p.F327F|KCNT1_ENST00000263604.3_Silent_p.F327F|KCNT1_ENST00000490355.2_Silent_p.F327F|KCNT1_ENST00000491806.2_Silent_p.F313F|KCNT1_ENST00000487664.1_Silent_p.F301F			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	10	17	0	31	346						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACCTGCAGTTCGAGGAGCTCG	0.632000													1	1	1	1	1	1	0.998609	10	17	0	32	0	0	0	0	0	32	5
CAMSAP1	157922	broad.mit.edu	37	9	138709842	138709842	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138709842C>T	ENST00000389532.4	-	14	4316	c.4252G>A	c.(4252-4254)Ggg>Agg	p.G1418R	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.G1429R|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.G1140R|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	14	20	0	57	1418						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGTGTGCCCCCGGAATGAACG	0.637000													1	1	1	1	1	1	0.999930	14	23	0	69	1	9.999542e-01	21	18	0	69	5
CAMSAP1	157922	broad.mit.edu	37	9	138742171	138742171	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:138742171C>A	ENST00000389532.4	-	6	1009	c.945G>T	c.(943-945)ttG>ttT	p.L315F	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.L326F|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.L37F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	34	51	0	62	315	CH.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TTATTACCTTCAACACTAATG	0.323000													1	1	1	1	1	1	1.000000	37	56	0	70	1	9.626631e-01	5	6	0	70	5
ANAPC2	29882	broad.mit.edu	37	9	140082342	140082342	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140082342G>A	ENST00000323927.2	-	2	335	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	33	80	0	124	111					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			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GCGTCAAGGAGTAGCAAAAGG	0.587000													1	1	1	1	1	1	1.000000	36	84	0	131	1	1	35	42	0	131	5
TPRN	286262	broad.mit.edu	37	9	140093883	140093883	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140093883C>T	ENST00000409012.4	-	1	1367	c.1281G>A	c.(1279-1281)tcG>tcA	p.S427S	TPRN_ENST00000321773.2_Silent_p.S366S|TPRN_ENST00000541945.1_Intron	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	8	22	0	23	427					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CAGCTTCTTCCGAAGCAGCCG	0.657000													1	1	1	1	1	1	0.998296	10	24	0	24	1	9.999998e-01	63	59	0	24	5
PNPLA7	375775	broad.mit.edu	37	9	140354851	140354851	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140354851G>A	ENST00000406427.1	-	35	4359	c.4023C>T	c.(4021-4023)gaC>gaT	p.D1341D	PNPLA7_ENST00000277531.4_Silent_p.D1316D|PNPLA7_ENST00000371457.1_Silent_p.D922D|PNPLA7_ENST00000492278.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	8	32	0	38	1316					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCTCTACCCGTCCTGGTCAG	0.617000													1	1	1	1	1	1	0.991705	8	36	0	42	0	1.058048e-01	1	2	0	42	5
PNPLA7	375775	broad.mit.edu	37	9	140400121	140400121	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140400121G>A	ENST00000406427.1	-	14	1754	c.1418C>T	c.(1417-1419)tCg>tTg	p.S473L	PNPLA7_ENST00000277531.4_Missense_Mutation_p.S448L|PNPLA7_ENST00000371457.1_Missense_Mutation_p.S54L	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	48	85	0	137	448				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GATGGCATCCGACTTCCTGCT	0.612000													1	1	1	1	1	1	1.000000	49	90	0	145	0	0	0	1	0	145	5
EHMT1	79813	broad.mit.edu	37	9	140646849	140646849	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140646849G>A	ENST00000460843.1	+	7	1264	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.E413K|EHMT1_ENST00000334856.6_Missense_Mutation_p.E382K	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	11	20	0	27	413					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)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGGCGGTGACGAGTCTGACCT	0.592000													1	1	1	1	1	1	0.999206	11	24	0	30	1	9.992063e-01	8	27	0	30	5
CACNA1B	774	broad.mit.edu	37	9	140851266	140851266	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:140851266G>A	ENST00000371372.1	+	9	1375	c.1230G>A	c.(1228-1230)aaG>aaA	p.K410K	CACNA1B_ENST00000371363.1_Silent_p.K410K|CACNA1B_ENST00000371357.1_Silent_p.K410K|CACNA1B_ENST00000277551.2_Silent_p.K410K|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Silent_p.K410K	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	26	47	0	81	410					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAGAGGAGAAGTCCCCTTTGG	0.612000													1	0	1	1	1	1	1.000000	29	51	0	91	0	0	0	0	0	91	4
CACNA1B	774	broad.mit.edu	37	9	141008837	141008837	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr9:141008837G>T	ENST00000277549.5	+	41	5695	c.3126G>T	c.(3124-3126)gaG>gaT	p.E1042D	CACNA1B_ENST00000371372.1_Missense_Mutation_p.E1848D|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1846D|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1847D|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1848D|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1849D			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	5	5	0	15	1848					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAGCTGATGAGATGACAGTGG	0.512000													0	0	1	1	1	1	0.981222	6	5	0	17	0	0	0	0	0	17	3
ZMYND11	10771	broad.mit.edu	37	10	288047	288047	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:288047C>T	ENST00000397962.3	+	10	1346	c.918C>T	c.(916-918)gtC>gtT	p.V306V	ZMYND11_ENST00000381602.4_Silent_p.V266V|ZMYND11_ENST00000381607.4_Silent_p.V212V|ZMYND11_ENST00000381591.1_Silent_p.V306V|ZMYND11_ENST00000403354.1_Silent_p.V226V|ZMYND11_ENST00000397959.3_Silent_p.V221V|ZMYND11_ENST00000402736.1_Silent_p.V275V|ZMYND11_ENST00000509513.2_Silent_p.V305V|ZMYND11_ENST00000381604.4_Silent_p.V266V|ZMYND11_ENST00000309776.4_Silent_p.V266V|ZMYND11_ENST00000602682.1_Silent_p.V221V|ZMYND11_ENST00000558098.2_Silent_p.V306V|ZMYND11_ENST00000545619.1_Silent_p.V186V|ZMYND11_ENST00000381584.1_Silent_p.V289V|ZMYND11_ENST00000535374.1_Silent_p.V101V			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	5	70	0	86	266					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACAATCAAGTCGACGTTCGCT	0.428000													0	0	1	0	1	1	0.939576	5	76	0	91	1	6.631333e-01	5	29	0	91	2
LARP4B	23185	broad.mit.edu	37	10	876893	876893	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:876893C>A	ENST00000316157.3	-	8	815	c.775G>T	c.(775-777)Gat>Tat	p.D259Y		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	18	33	0	35	259	RRM.						nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGTAAATTATCTCCTTTAAAT	0.284000													1	1	1	1	1	1	0.999998	19	35	0	36	1	9.997757e-01	11	21	0	36	5
TUBAL3	79861	broad.mit.edu	37	10	5435795	5435795	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:5435795C>T	ENST00000380419.3	-	4	1063	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	TUBAL3_ENST00000479328.1_Silent_p.T302T	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	24	45	0	50	342					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GCCTCGACTTCGTGGCTGCGA	0.562000													1	1	1	1	1	1	1.000000	25	48	0	52	0	0	0	0	0	52	5
IL2RA	3559	broad.mit.edu	37	10	6063552	6063552	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:6063552C>T	ENST00000379959.3	-	4	645	c.472G>A	c.(472-474)Gct>Act	p.A158T	IL2RA_ENST00000256876.6_Missense_Mutation_p.A158T|IL2RA_ENST00000379954.1_Intron	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	56	88	0	122	158	Sushi 2.				cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTGTGTAGAGCCCTGTATCCC	0.527000													1	1	1	1	1	1	1.000000	61	94	0	130	0	8.288491e-01	0	7	0	130	5
SFMBT2	57713	broad.mit.edu	37	10	7242375	7242375	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7242375C>T	ENST00000361972.4	-	14	1649		c.e14+1		SFMBT2_ENST00000397167.1_Splice_Site	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	24	47	0	60						regulation of transcription, DNA-dependent	nucleus		p.?(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGACTGATTACCTGTGGTGTC	0.468000													1	1	1	1	1	1	1.000000	27	55	0	72	0	0	0	1	0	72	5
SFMBT2	57713	broad.mit.edu	37	10	7285548	7285548	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7285548T>G	ENST00000361972.4	-	9	1182	c.1092A>C	c.(1090-1092)aaA>aaC	p.K364N	SFMBT2_ENST00000397167.1_Missense_Mutation_p.K364N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	24	51	0	52	364					regulation of transcription, DNA-dependent	nucleus		p.K364N(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGACTCCATTTTTAAGGCACC	0.448000													1	1	1	1	1	1	1.000000	26	56	0	62	0	1.058824e-01	0	2	0	62	5
ITIH5	80760	broad.mit.edu	37	10	7614359	7614359	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7614359G>A	ENST00000397145.2	-	12	2140	c.2035C>T	c.(2035-2037)Cgt>Tgt	p.R679C	ITIH5_ENST00000298441.6_Intron|ITIH5_ENST00000446830.2_Intron|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000256861.6_Intron	NM_001001851.2	NP_001001851.1	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	6	16	0	21	679					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTGAAGCCACGAACTGAAAAA	0.363000													1	1	1	1	1	1	0.993636	8	16	0	22	0	0	0	1	0	22	5
ITIH2	3698	broad.mit.edu	37	10	7768987	7768987	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:7768987G>T	ENST00000358415.4	+	10	1225	c.1059G>T	c.(1057-1059)caG>caT	p.Q353H	ITIH2_ENST00000379587.4_Missense_Mutation_p.Q342H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	20	37	0	44	353	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ATTTCAACCAGAACATTCGAA	0.398000													1	1	1	1	1	1	1.000000	21	42	0	47	0	4.162896e-01	1	3	0	47	5
TAF3	83860	broad.mit.edu	37	10	8007253	8007253	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:8007253G>T	ENST00000344293.5	+	3	1986	c.1780G>T	c.(1780-1782)Gaa>Taa	p.E594*		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	31	41	0	58	594	Lys-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			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TAAAATCAAAGAATTTGAAGA	0.373000													1	1	1	1	1	1	1.000000	35	48	0	67	0	6.960611e-01	1	4	0	67	5
TAF3	83860	broad.mit.edu	37	10	8007600	8007600	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:8007600G>A	ENST00000344293.5	+	3	2333	c.2127G>A	c.(2125-2127)aaG>aaA	p.K709K		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	10	18	0	34	709	Lys-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			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						aggagaagaagaaaaagaagg	0.413000													1	1	1	1	1	1	0.998557	10	18	0	34	0	9.225922e-01	1	10	0	34	5
UPF2	26019	broad.mit.edu	37	10	12071012	12071012	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:12071012T>G	ENST00000356352.2	-	2	1350	c.877A>C	c.(877-879)Aat>Cat	p.N293H	UPF2_ENST00000397053.2_Missense_Mutation_p.N293H|UPF2_ENST00000357604.5_Missense_Mutation_p.N293H			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	22	26	0	50	293	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			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTAATAATATTTTTTAGCTGT	0.378000													1	1	1	1	1	1	1.000000	22	28	0	53	1	8.125114e-01	3	3	0	53	5
DHTKD1	55526	broad.mit.edu	37	10	12136102	12136102	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:12136102T>C	ENST00000263035.4	+	7	1252	c.1190T>C	c.(1189-1191)gTc>gCc	p.V397A	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	21	91	0	94	397					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ATCATCCATGTCAATGGAGAC	0.517000													1	1	1	1	1	1	1.000000	23	102	0	105	1	5.815563e-01	2	8	0	105	5
SEPHS1	22929	broad.mit.edu	37	10	13375827	13375827	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:13375827C>A	ENST00000327347.5	-	5	925	c.550G>T	c.(550-552)Gaa>Taa	p.E184*	SEPHS1_ENST00000545675.1_Nonsense_Mutation_p.E184*|SEPHS1_ENST00000378614.4_Nonsense_Mutation_p.E184*|SEPHS1_ENST00000537130.1_Nonsense_Mutation_p.E117*	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	18	19	0	40	184					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						ATGATAAATTCATTGGGTTGG	0.438000													1	1	1	1	1	1	1.000000	20	20	0	48	1	1	6	61	0	48	5
FAM107B	83641	broad.mit.edu	37	10	14572353	14572353	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:14572353C>T	ENST00000181796.2	-	3	864	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	FAM107B_ENST00000378467.4_Missense_Mutation_p.E36K|FAM107B_ENST00000378462.1_Missense_Mutation_p.E36K|FAM107B_ENST00000378458.2_Missense_Mutation_p.E36K|FAM107B_ENST00000378465.3_Missense_Mutation_p.E36K|FAM107B_ENST00000378470.1_Missense_Mutation_p.E36K|FAM107B_ENST00000479731.1_Missense_Mutation_p.E36K|FAM107B_ENST00000468747.1_Missense_Mutation_p.E36K|FAM107B_ENST00000496330.1_Missense_Mutation_p.E36K|FAM107B_ENST00000471815.1_5'UTR|FAM107B_ENST00000478076.1_Missense_Mutation_p.E36K	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	22	56	0	85	36										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATAAGAAGTTCTCTGTGAAGA	0.333000													1	1	1	1	1	1	1.000000	23	61	0	94	1	9.977138e-01	15	15	0	94	5
FAM107B	83641	broad.mit.edu	37	10	14709678	14709678	+	Nonsense_Mutation	SNP	G	G	A	rs111681891		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:14709678G>A	ENST00000181796.2	-	2	657	c.424C>T	c.(424-426)Cga>Tga	p.R142*		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	16	21	0	29	74										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTTCTTCTCGAAATTCTTCT	0.423000													1	1	1	1	1	1	0.999997	18	24	0	33	0	0	0	0	0	33	5
FAM107B	83641	broad.mit.edu	37	10	14816376	14816376	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:14816376C>T	ENST00000181796.2	-	1	520	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	68	144	0	275	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGCCGCAGTGCGGTGACTTGA	0.592000													1	0	1	1	1	1	1.000000	77	158	0	313	0	0	0	0	0	313	4
ITGA8	8516	broad.mit.edu	37	10	15720728	15720728	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:15720728A>C	ENST00000378076.3	-	5	976	c.623T>G	c.(622-624)tTt>tGt	p.F208C		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	27	36	0	73	208					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CACCTTATAAAAATCCAGACT	0.403000													1	1	1	1	1	1	1.000000	29	43	0	82	0	0	0	0	0	82	5
CUBN	8029	broad.mit.edu	37	10	16878296	16878296	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:16878296A>G	ENST00000377833.4	-	63	10183	c.10118T>C	c.(10117-10119)gTc>gCc	p.V3373A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	15	33	0	42	3373	CUB 25.				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			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTGAAAATGACCATTGCAGT	0.398000													1	1	1	1	1	1	0.999953	15	35	0	43	0	0	1	0	0	43	5
CUBN	8029	broad.mit.edu	37	10	16948356	16948356	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:16948356G>A	ENST00000377833.4	-	50	7823	c.7758C>T	c.(7756-7758)ggC>ggT	p.G2586G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	22	45	0	67	2586	CUB 19.				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			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCGTCATAGCCAGGAGAAG	0.418000													1	1	1	1	1	1	1.000000	23	47	0	73	0	0	0	0	0	73	5
TRDMT1	1787	broad.mit.edu	37	10	17195593	17195593	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:17195593C>A	ENST00000377799.3	-	10	1035	c.988G>T	c.(988-990)Gaa>Taa	p.E330*	TRDMT1_ENST00000488990.1_Nonsense_Mutation_p.E207*|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000351358.4_Nonsense_Mutation_p.E284*|TRDMT1_ENST00000377766.5_3'UTR|TRDMT1_ENST00000412821.3_Nonsense_Mutation_p.E306*|TRDMT1_ENST00000457442.2_Nonsense_Mutation_p.E249*	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	10	20	0	18	330					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						GTTATCTGTTCTTCTTGTGAC	0.343000													1	1	1	1	1	1	0.998374	10	22	0	20	0	3.905670e-01	0	4	0	20	5
ST8SIA6	338596	broad.mit.edu	37	10	17365098	17365098	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:17365098G>A	ENST00000377602.4	-	7	768	c.694C>T	c.(694-696)Ctt>Ttt	p.L232F		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	21	46	0	55	232					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ATAGTCACAAGATTTGTTTTA	0.343000													1	1	1	1	1	1	1.000000	25	56	0	64	0	0	0	0	0	64	5
NEBL	10529	broad.mit.edu	37	10	21074700	21074700	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:21074700C>T	ENST00000377122.4	-	28	3417	c.3021G>A	c.(3019-3021)gcG>gcA	p.A1007A	NEBL_ENST00000417816.2_Silent_p.A263A|NEBL_ENST00000377159.4_Silent_p.A229A	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	13	23	0	36	1007	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle	p.A263A(1)|p.A1007A(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAATGTAATTCGCTGGGAGCA	0.413000													1	0	1	1	0	1	0.999842	13	23	0	42	0	0	0	0	0	42	3
KIAA1217	56243	broad.mit.edu	37	10	24820774	24820774	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:24820774C>T	ENST00000376451.2	+	10	2407	c.2147C>T	c.(2146-2148)tCg>tTg	p.S716L	KIAA1217_ENST00000376454.3_Missense_Mutation_p.S1033L|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S716L|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S953L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S998L|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S997L|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S716L|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S716L			Q5T5P2	SKT_HUMAN	KIAA1217	14	19	0	50	1033					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCTCCAAATTCGGAACAGGAC	0.493000													1	1	1	1	1	1	0.999973	15	21	0	55	1	9.993947e-01	10	14	0	55	5
ARHGAP21	57584	broad.mit.edu	37	10	24910202	24910202	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:24910202G>A	ENST00000396432.2	-	9	1108	c.622C>T	c.(622-624)Cca>Tca	p.P208S	ARHGAP21_ENST00000320481.6_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	6	20	0	43	207					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GGGGCAGATGGCAGCCAGGGA	0.502000													0	0	1	1	0	1	0.970955	6	22	0	37	0	0	0	1	0	37	2
THNSL1	79896	broad.mit.edu	37	10	25314002	25314002	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:25314002A>G	ENST00000524413.1	+	3	2197	c.1850A>G	c.(1849-1851)gAc>gGc	p.D617G	THNSL1_ENST00000376356.4_Missense_Mutation_p.D617G			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	29	45	0	81	617					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	TTTGTAGCTGACTGGTGCTCT	0.413000													1	1	1	1	1	1	1.000000	33	51	0	91	1	9.978394e-01	11	8	0	91	5
GPR158	57512	broad.mit.edu	37	10	25887640	25887640	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:25887640G>A	ENST00000376351.3	+	11	3444	c.3085G>A	c.(3085-3087)Gta>Ata	p.V1029I	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	19	52	0	76	1029						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCAAAAGCACGTATCTATTGT	0.458000													1	1	1	1	1	1	0.999999	20	54	0	77	0	0	0	0	0	77	5
GPR158	57512	broad.mit.edu	37	10	25887693	25887693	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:25887693G>T	ENST00000376351.3	+	11	3497	c.3138G>T	c.(3136-3138)gaG>gaT	p.E1046D	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	23	59	0	89	1046						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCTTAAAGGAGAAATCTCACC	0.463000													1	1	1	1	1	1	1.000000	26	59	0	93	0	0	0	0	0	93	5
MYO3A	53904	broad.mit.edu	37	10	26465660	26465660	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:26465660C>A	ENST00000265944.5	+	31	4490	c.4324C>A	c.(4324-4326)Ctg>Atg	p.L1442M	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	8	31	0	26	1442					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			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATATTTCATTCTGCAGAAAAA	0.378000													1	1	1	1	1	1	0.991943	8	32	0	27	0	0	0	0	0	27	5
PDSS1	23590	broad.mit.edu	37	10	27012969	27012969	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27012969G>T	ENST00000376215.5	+	8	801	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	PDSS1_ENST00000376203.5_Nonsense_Mutation_p.E250*	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	19	47	0	46	250					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CGGGTCAAAAGAAAATGAGAA	0.413000													1	1	1	1	1	1	1.000000	22	53	0	52	0	6.573804e-01	1	6	0	52	5
ABI1	10006	broad.mit.edu	37	10	27052890	27052890	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27052890C>A	ENST00000355394.4	-	8	1047		c.e8-1		ABI1_ENST00000376140.3_Intron|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376170.4_Intron|ABI1_ENST00000376142.2_Splice_Site|ABI1_ENST00000376139.2_Intron|ABI1_ENST00000346832.5_Splice_Site|ABI1_ENST00000359188.4_Intron|ABI1_ENST00000376160.1_Intron|ABI1_ENST00000376134.3_Intron|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000490841.2_Intron			Q8IZP0	ABI1_HUMAN	abl-interactor 1	12	28	0	41						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)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAAATGTTTTCTAATAAAATA	0.398000													1	1	1	1	1	1	0.999789	13	33	0	43	0	9.999995e-01	0	95	0	43	5
YME1L1	10730	broad.mit.edu	37	10	27411889	27411889	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27411889C>T	ENST00000326799.3	-	12	1435	c.1287G>A	c.(1285-1287)gcG>gcA	p.A429A	YME1L1_ENST00000376016.3_Silent_p.A372A|YME1L1_ENST00000375972.3_Silent_p.A339A	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	16	32	0	36	429					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAGGAGCATTCGCCTTTGCTT	0.328000													1	1	1	1	1	1	0.999998	19	34	0	38	1	1	60	89	0	38	5
RAB18	22931	broad.mit.edu	37	10	27826849	27826849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:27826849G>T	ENST00000356940.6	+	7	592	c.490G>T	c.(490-492)Gaa>Taa	p.E164*	RAB18_ENST00000535776.1_Nonsense_Mutation_p.E100*|RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000375802.3_Nonsense_Mutation_p.E119*	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	25	50	0	66	164					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			kidney(1)|large_intestine(1)|lung(1)	3						TGCCTTTGAAGAACTTGTTGA	0.428000													1	1	1	1	1	1	1.000000	25	51	0	72	1	1	14	79	0	72	5
MKX	283078	broad.mit.edu	37	10	28023451	28023451	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:28023451C>A	ENST00000375790.5	-	5	1204	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	MKX_ENST00000419761.1_Nonsense_Mutation_p.E258*			Q8IYA7	MKX_HUMAN	mohawk homeobox	37	71	0	133	258					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TCCTCAAATTCATTGGAGCTA	0.433000													1	1	1	1	1	1	1.000000	41	77	0	153	1	7.585948e-01	2	5	0	153	5
ARMC4	55130	broad.mit.edu	37	10	28270421	28270421	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:28270421T>C	ENST00000305242.5	-	7	1002	c.910A>G	c.(910-912)Aaa>Gaa	p.K304E	ARMC4_ENST00000239715.3_Missense_Mutation_p.K161E|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	14	32	0	37	304							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCTGAAAATTTTGGTGATTTT	0.294000													1	1	1	1	1	1	0.999905	14	32	0	37	1	1.020408e-01	2	0	0	37	5
SVIL	6840	broad.mit.edu	37	10	29769557	29769557	+	Silent	SNP	G	G	A	rs150357239	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:29769557G>A	ENST00000375398.2	-	31	5735	c.5286C>T	c.(5284-5286)ttC>ttT	p.F1762F	PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Silent_p.F1336F|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000538146.1_Silent_p.F554F|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000355867.4_Silent_p.F1762F|SVIL_ENST00000535393.1_Silent_p.F676F|PTCHD3P1_ENST00000446807.1_RNA			O95425	SVIL_HUMAN	supervillin	38	65	1	113	1762					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCTATAGTCGAATTCCAGGA	0.557000													1	0	1	1	1	1	1.000000	38	66	0	114	1	9.999919e-01	10	28	0	114	4
MAP3K8	1326	broad.mit.edu	37	10	30728192	30728192	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:30728192T>G	ENST00000263056.1	+	3	1021	c.325T>G	c.(325-327)Tta>Gta	p.L109V	MAP3K8_ENST00000375322.2_Missense_Mutation_p.L109V|MAP3K8_ENST00000375321.1_Missense_Mutation_p.L109V|MAP3K8_ENST00000542547.1_Missense_Mutation_p.L109V	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	25	32	0	42	109					cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				ATCTGGAATTTTATTAAACAT	0.403000													1	1	1	1	1	1	1.000000	26	33	0	47	1	9.999649e-01	8	20	0	47	5
MAP3K8	1326	broad.mit.edu	37	10	30740639	30740639	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:30740639A>G	ENST00000263056.1	+	6	1535	c.839A>G	c.(838-840)gAt>gGt	p.D280G	MAP3K8_ENST00000375321.1_Missense_Mutation_p.D280G|MAP3K8_ENST00000542547.1_Missense_Mutation_p.D280G	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	20	35	0	44	280	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				ATGACCGAAGATGTCTATTTT	0.328000													1	1	1	1	1	1	1.000000	21	40	0	50	1	8.965515e-01	2	8	0	50	5
KIF5B	3799	broad.mit.edu	37	10	32306131	32306131	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:32306131G>A	ENST00000302418.4	-	24	3158	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	68	143	0	190	901					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TCCTTTATGCGATCTACTTCT	0.418000			T	RET, ALK	NSCLC								1	1	1	1	1	1	1.000000	76	156	0	216	1	1	80	86	0	216	5
EPC1	80314	broad.mit.edu	37	10	32561054	32561054	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:32561054A>G	ENST00000319778.6	-	12	2207	c.1905T>C	c.(1903-1905)ttT>ttC	p.F635F	EPC1_ENST00000375110.2_Silent_p.F585F|EPC1_ENST00000263062.8_Silent_p.F658F	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	15	29	0	57	658					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				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CAGAAGCAGCAAACTGTGCAC	0.398000													1	1	1	1	1	1	0.999992	17	30	0	63	1	9.994347e-01	18	10	0	63	5
CCDC7	221016	broad.mit.edu	37	10	32745259	32745259	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:32745259A>C	ENST00000545067.1	+	4	749	c.453A>C	c.(451-453)caA>caC	p.Q151H	CCDC7_ENST00000362006.5_Missense_Mutation_p.Q151H|CCDC7_ENST00000535327.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000539197.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000537047.1_Missense_Mutation_p.Q151H|CCDC7_ENST00000277657.6_Missense_Mutation_p.Q151H			Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	12	18	0	24	151										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AAGAAGAACAAAATGTATGTA	0.313000													1	1	1	1	1	1	0.999855	13	21	0	25	0	0	0	0	0	25	5
ZNF25	219749	broad.mit.edu	37	10	38242653	38242653	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:38242653C>A	ENST00000302609.7	-	5	484	c.272G>T	c.(271-273)aGa>aTa	p.R91I	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	4	31	0	32	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TTCCTGGTATCTTGCTTCTAG	0.328000													0	0	1	1	1	1	0.893868	4	35	0	38	0	4.659266e-02	0	3	0	38	3
ZNF33A	7581	broad.mit.edu	37	10	38344819	38344819	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:38344819C>A	ENST00000374618.3	+	5	1945	c.1767C>A	c.(1765-1767)atC>atA	p.I589I	ZNF33A_ENST00000458705.2_Silent_p.I588I|ZNF33A_ENST00000307441.9_Silent_p.I588I|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Silent_p.I595I	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	26	60	0	60	588						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GTGGAAAAATCTTTTACAATA	0.378000													1	1	1	1	1	1	1.000000	28	60	0	62	1	9.754224e-01	11	5	0	62	5
ZNF37A	7587	broad.mit.edu	37	10	38406445	38406445	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:38406445A>C	ENST00000351773.3	+	8	1196	c.366A>C	c.(364-366)aaA>aaC	p.K122N	ZNF37A_ENST00000361085.4_Missense_Mutation_p.K122N	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	35	82	0	93	122						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATATAATAAAAATGGGAACA	0.328000													1	1	1	1	1	1	1.000000	38	90	0	103	0	9.160305e-02	0	2	0	103	5
ZNF485	220992	broad.mit.edu	37	10	44112192	44112192	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:44112192G>T	ENST00000361807.3	+	5	895	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ZNF485_ENST00000374437.2_Missense_Mutation_p.R143I|ZNF485_ENST00000374435.3_Missense_Mutation_p.R234I	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	23	37	0	38	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGTCATCAGAGAATTCATACT	0.393000													1	1	1	1	1	1	1.000000	27	39	0	40	1	8.435265e-01	3	4	0	40	5
ALOX5	240	broad.mit.edu	37	10	45936008	45936008	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:45936008G>A	ENST00000374391.2	+	8	1165	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q	ALOX5_ENST00000542434.1_Missense_Mutation_p.R371Q	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	17	24	0	52	371	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	p.R371Q(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		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)	CACCTTCTGCGAACACATCTG	0.537000													1	1	1	1	1	1	0.999997	18	29	0	56	1	1	31	43	0	56	5
ZFAND4	93550	broad.mit.edu	37	10	46122112	46122112	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:46122112C>A	ENST00000374366.3	-	8	1402	c.937G>T	c.(937-939)Gaa>Taa	p.E313*	ZFAND4_ENST00000344646.5_Nonsense_Mutation_p.E387*|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	33	57	0	85	387							zinc ion binding										GTTACACATTCTTCTGAAGGT	0.438000													1	1	1	1	1	1	1.000000	34	61	0	93	0	9.140468e-01	1	9	0	93	5
NPY4R	0	broad.mit.edu	37	10	47086821	47086821	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47086821A>C	ENST00000374312.1	+	3	457	c.38A>C	c.(37-39)aAa>aCa	p.K13T	NPY4R_ENST00000395716.1_Missense_Mutation_p.K13T	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4	22	80	0	104																		CTGCTCCCAAAATCTCCACAA	0.493000													1	1	1	1	0	1	1.000000	23	82	0	114	0	0	0	0	0	114	4
NPY4R	0	broad.mit.edu	37	10	47087310	47087310	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47087310C>T	ENST00000374312.1	+	3	946	c.527C>T	c.(526-528)gCc>gTc	p.A176V	NPY4R_ENST00000395716.1_Missense_Mutation_p.A176V	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4	27	117	0	142																		CCCTTCCTGGCCAACAGCATC	0.572000													1	1	1	1	0	1	1.000000	29	120	0	148	0	0	0	0	0	148	4
NPY4R	0	broad.mit.edu	37	10	47087465	47087465	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47087465G>A	ENST00000374312.1	+	3	1101	c.682G>A	c.(682-684)Ggc>Agc	p.G228S	NPY4R_ENST00000395716.1_Missense_Mutation_p.G228S	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4	6	155	0	215																		CCTCCCACTGGGCTTCATCCT	0.607000													1	0	1	1	0	1	0.981274	7	168	0	223	0	0	0	0	0	223	3
NPY4R	0	broad.mit.edu	37	10	47087545	47087545	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:47087545C>T	ENST00000374312.1	+	3	1181	c.762C>T	c.(760-762)agC>agT	p.S254S	NPY4R_ENST00000395716.1_Silent_p.S254S	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4	22	104	0	175																		GCACCTACAGCTTGCGAGCTG	0.597000													1	1	1	1	1	1	1.000000	23	110	0	193	0	0	0	1	0	193	5
RBP3	5949	broad.mit.edu	37	10	48388279	48388279	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:48388279C>T	ENST00000224600.4	-	1	2712	c.2599G>A	c.(2599-2601)Gtc>Atc	p.V867I		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	10	28	0	29	867	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TCCCCAATGACCGTGGCCCGC	0.632000													1	1	1	1	1	1	0.998130	10	29	0	29	0	0	0	0	0	29	5
RBP3	5949	broad.mit.edu	37	10	48389205	48389205	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:48389205G>A	ENST00000224600.4	-	1	1786	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	26	51	0	97	558	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCAGCCCAGCGACTGCATAAG	0.687000													1	1	1	1	1	1	1.000000	27	58	0	105	0	0	0	0	0	105	5
GDF2	2658	broad.mit.edu	37	10	48413860	48413860	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:48413860G>A	ENST00000249598.1	-	2	1167	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	28	62	1	131	336					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.F336F(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGATGTCCTCGAAGTTTACCC	0.607000													1	0	1	1	1	1	1.000000	34	75	1	147	0	0	0	0	1	147	4
VSTM4	196740	broad.mit.edu	37	10	50315677	50315677	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50315677G>T	ENST00000332853.3	-	2	442	c.419C>A	c.(418-420)aCg>aAg	p.T140K	VSTM4_ENST00000298454.3_Missense_Mutation_p.T140K	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	30	42	0	83	140	Ig-like.					integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GGACCAGGCCGTCCACTTGTT	0.612000													1	1	1	1	1	1	1.000000	30	44	0	88	0	3.651086e-01	0	3	0	88	5
ERCC6	2074	broad.mit.edu	37	10	50732662	50732662	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50732662C>T	ENST00000355832.5	-	5	892	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E272K|PGBD3_ENST00000603152.1_Missense_Mutation_p.E272K|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E272K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	47	85	0	154	272					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			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAATACTTTTCGAAGCCTGAT	0.458000								Direct reversal of damage;Nucleotide excision repair (NER)					1	1	1	1	0	1	1.000000	48	90	0	159	1	1.241135e-01	2	0	0	159	4
SLC18A3	6572	broad.mit.edu	37	10	50819033	50819033	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50819033C>T	ENST00000374115.3	+	1	687	c.247C>T	c.(247-249)Ccg>Tcg	p.P83S	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	11	26	0	43	83					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCCACCCTGCCGCTGCCCAC	0.721000													1	1	1	1	0	1	0.999147	11	27	0	44	0	0	0	0	0	44	4
SLC18A3	6572	broad.mit.edu	37	10	50820378	50820378	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50820378G>A	ENST00000374115.3	+	1	2032	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	15	133	0	171	531					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						TACTACACCCGCAGCTAGCAT	0.667000													1	1	1	1	1	1	0.999987	18	147	0	187	1	3.726697e-02	2	1	0	187	5
C10orf53	282966	broad.mit.edu	37	10	50902001	50902001	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50902001C>A	ENST00000374113.3	+	2	326	c.279C>A	c.(277-279)ttC>ttA	p.F93L	C10orf53_ENST00000374111.3_Intron|C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000535836.1_Intron			Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	10	35	0	46	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				CCCTCAATTTCTAGTTGAAAT	0.453000													1	0	1	1	1	1	0.997930	10	37	0	50	0	0	0	0	0	50	4
OGDHL	55753	broad.mit.edu	37	10	50943287	50943287	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50943287C>T	ENST00000374103.4	-	23	3105	c.3020G>A	c.(3019-3021)gGc>gAc	p.G1007D	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.G950D|OGDHL_ENST00000432695.1_Missense_Mutation_p.G798D	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	49	70	0	150	1007					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AAATGTCTTGCCCTCAAAGGC	0.572000													1	0	1	1	1	1	1.000000	50	72	0	164	1	9.999998e-01	21	21	0	164	4
OGDHL	55753	broad.mit.edu	37	10	50952051	50952051	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:50952051T>C	ENST00000374103.4	-	14	1935	c.1850A>G	c.(1849-1851)aAg>aGg	p.K617R	OGDHL_ENST00000419399.1_Missense_Mutation_p.K560R|OGDHL_ENST00000432695.1_Missense_Mutation_p.K408R	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	16	29	0	43	617					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGTGTGGATCTTAAAGTCCTC	0.617000													1	1	1	1	1	1	0.999982	16	30	0	45	1	9.936580e-01	9	10	0	45	5
SGMS1	259230	broad.mit.edu	37	10	52066985	52066985	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:52066985G>A	ENST00000361781.2	-	11	2118	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	SGMS1_ENST00000429490.1_Nonsense_Mutation_p.R218*	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	21	29	0	51	393					apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.R387*(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGGTAAGATCGAGGTACAATT	0.493000													1	0	1	1	1	1	1.000000	22	31	0	56	1	9.999709e-01	12	20	0	56	4
A1CF	29974	broad.mit.edu	37	10	52601750	52601750	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:52601750G>A	ENST00000395489.2	-	7	612	c.216C>T	c.(214-216)atC>atT	p.I72I	A1CF_ENST00000282641.2_Silent_p.I79I|A1CF_ENST00000395495.1_Silent_p.I79I|A1CF_ENST00000374001.1_Silent_p.I79I|A1CF_ENST00000373995.3_Silent_p.I87I|A1CF_ENST00000373993.1_Silent_p.I79I|A1CF_ENST00000373997.3_Silent_p.I79I	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	8	18	0	26	79	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			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AAATTTTACCGATCTGCAAGT	0.318000													1	1	1	1	1	1	0.992918	8	21	0	28	0	0	0	0	0	28	5
DKK1	22943	broad.mit.edu	37	10	54076093	54076093	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:54076093G>T	ENST00000373970.3	+	3	584	c.445G>T	c.(445-447)Gaa>Taa	p.E149*	DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	15	21	0	43	149					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			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TTTCCGAGGAGAAATTGAGGA	0.393000													1	1	1	1	1	1	0.999995	17	21	0	45	1	8.182886e-01	2	4	0	45	5
DKK1	22943	broad.mit.edu	37	10	54076160	54076160	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:54076160G>T	ENST00000373970.3	+	3	651	c.512G>T	c.(511-513)aGa>aTa	p.R171I	DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	4	47	0	44	171					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			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TATTCCAGAAGAACCACCTTG	0.373000													1	0	1	1	0	1	0.940593	5	50	0	45	0	1.323071e-01	0	6	0	45	3
PCDH15	65217	broad.mit.edu	37	10	55569282	55569282	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55569282G>T	ENST00000395438.1	-	36	4972	c.4578C>A	c.(4576-4578)aaC>aaA	p.N1526K	PCDH15_ENST00000395445.1_Missense_Mutation_p.P1510T|PCDH15_ENST00000395440.1_Missense_Mutation_p.P444T|PCDH15_ENST00000409834.1_Missense_Mutation_p.N1137K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395442.1_Missense_Mutation_p.P375T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.P706T	NM_001142770.1	NP_001136242.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	14	150	0	139	0					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			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCAACCTTTGGTTTTTTAATT	0.413000										HNSCC(58;0.16)			1	1	1	1	0	1	0.999946	16	166	0	155	0	0	0	0	0	155	4
PCDH15	65217	broad.mit.edu	37	10	55626542	55626542	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55626542C>A	ENST00000373965.2	-	28	3992	c.3598G>T	c.(3598-3600)Gaa>Taa	p.E1200*	PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E1200*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E1171*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E1156*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E804*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E1193*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E1122*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E1198*|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	25	29	0	78	1193	Cadherin 11.				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			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAAATCCTTCTTTTCCCTCT	0.378000										HNSCC(58;0.16)			1	1	1	1	1	1	1.000000	26	30	0	88	0	0	0	0	0	88	5
PCDH15	65217	broad.mit.edu	37	10	55944895	55944895	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55944895G>A	ENST00000373965.2	-	13	1854	c.1461_splice	c.e13+1	p.S487_splice	PCDH15_ENST00000395445.1_Splice_Site_p.S487_splice|PCDH15_ENST00000373955.1_Splice_Site_p.S480_splice|PCDH15_ENST00000361849.3_Splice_Site_p.S480_splice|PCDH15_ENST00000395433.1_Splice_Site_p.S458_splice|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000320301.6_Splice_Site_p.S480_splice|PCDH15_ENST00000395432.2_Splice_Site_p.S443_splice|PCDH15_ENST00000395438.1_Splice_Site_p.S480_splice|PCDH15_ENST00000409834.1_Splice_Site_p.S91_splice|PCDH15_ENST00000395430.1_Splice_Site_p.S480_splice|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Splice_Site_p.S458_splice|PCDH15_ENST00000437009.1_Splice_Site_p.S480_splice|PCDH15_ENST00000414778.1_Splice_Site_p.S485_splice|PCDH15_ENST00000395446.1_Splice_Site_p.S480_splice	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	12	37	0	54	480	Cadherin 4.				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	p.S485L(1)|p.S480L(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTCTTTACCGAAAAGGTGTA	0.383000										HNSCC(58;0.16)			1	1	1	1	1	1	0.999989	17	40	0	57	0	0	0	0	0	57	5
PCDH15	65217	broad.mit.edu	37	10	55955448	55955448	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:55955448C>A	ENST00000373965.2	-	11	1694	c.1300G>T	c.(1300-1302)Gaa>Taa	p.E434*	PCDH15_ENST00000395445.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000373955.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.E412*|PCDH15_ENST00000395440.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.E397*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.E38*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.E412*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.E434*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E439*|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.E434*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	9	39	0	43	434	Cadherin 4.				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			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTACATCTTCTATGTCCTTG	0.373000										HNSCC(58;0.16)			1	1	1	1	1	1	0.997869	10	40	0	48	0	0	0	0	0	48	5
IPMK	253430	broad.mit.edu	37	10	59955838	59955838	+	Nonstop_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:59955838C>A	ENST00000373935.3	-	6	1572	c.1250G>T	c.(1249-1251)tGa>tTa	p.*417L		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	24	55	0	105	0						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						ACAGAGGATTCAATTGTCTAA	0.353000													1	1	1	1	1	1	1.000000	26	58	0	116	0	0	0	0	0	116	5
PHYHIPL	84457	broad.mit.edu	37	10	61004994	61004994	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:61004994A>G	ENST00000373880.4	+	5	1038	c.774A>G	c.(772-774)aaA>aaG	p.K258K	PHYHIPL_ENST00000373878.3_Silent_p.K232K	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	5	48	0	42	258										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						CCGCAGAAAAACTTTTTAACC	0.413000													1	1	1	1	1	1	0.967893	6	49	0	44	0	2.140463e-01	0	7	0	44	5
ANK3	288	broad.mit.edu	37	10	61834982	61834982	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:61834982G>A	ENST00000280772.1	-	37	5848	c.5657C>T	c.(5656-5658)gCc>gTc	p.A1886V	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	26	58	0	79	1886	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAACTTAAGGGCAGAGGGTGC	0.433000													1	1	1	1	1	1	1.000000	28	63	0	88	0	9.995366e-01	1	1	0	88	5
ANK3	288	broad.mit.edu	37	10	61835651	61835651	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:61835651A>C	ENST00000280772.1	-	37	5179	c.4988T>G	c.(4987-4989)aTt>aGt	p.I1663S	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	24	53	0	80	1663	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGATGTAATAATTGACTTAAA	0.398000													1	1	1	1	1	1	1.000000	25	55	0	83	1	9.997183e-01	3	0	0	83	5
RHOBTB1	9886	broad.mit.edu	37	10	62670691	62670691	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:62670691C>T	ENST00000337910.5	-	4	587	c.250G>A	c.(250-252)Gat>Aat	p.D84N	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D84N	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	20	27	0	60	84	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CCAAAAGTATCCCAAAGCCTG	0.463000													1	1	1	1	1	1	1.000000	21	30	0	66	1	9.970850e-01	7	11	0	66	5
RTKN2	219790	broad.mit.edu	37	10	63957810	63957810	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:63957810G>A	ENST00000373789.3	-	12	1783	c.1687C>T	c.(1687-1689)Ctg>Ttg	p.L563L	RTKN2_ENST00000395265.1_Intron|RTKN2_ENST00000315289.2_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	22	52	0	60	563					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CTGGCAGGCAGAAGTTTTCGA	0.438000													1	1	1	1	1	1	1.000000	22	55	0	66	0	2.081106e-01	1	1	0	66	5
RTKN2	219790	broad.mit.edu	37	10	64022496	64022496	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:64022496C>T	ENST00000373789.3	-	2	241	c.145G>A	c.(145-147)Gat>Aat	p.D49N	RTKN2_ENST00000395260.3_Missense_Mutation_p.D49N|RTKN2_ENST00000395265.1_Missense_Mutation_p.D49N	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	12	34	0	56	49					signal transduction	intracellular		p.D49Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AAAACTTGATCTTTCTGAGTG	0.363000													1	1	1	1	1	1	0.999518	12	37	0	60	1	9.503231e-01	14	5	0	60	5
ZNF365	22891	broad.mit.edu	37	10	64136203	64136203	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:64136203A>C	ENST00000395254.3	+	2	531	c.251A>C	c.(250-252)aAa>aCa	p.K84T	ZNF365_ENST00000395255.3_Missense_Mutation_p.K84T|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.K84T	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	37	60	0	70	49										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AAACCGGGAAAATTGCAGAGC	0.458000													1	1	1	1	1	1	1.000000	41	65	0	79	0	0	0	0	0	79	5
JMJD1C	221037	broad.mit.edu	37	10	64966708	64966708	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:64966708G>T	ENST00000399262.2	-	10	4939	c.4721C>A	c.(4720-4722)tCt>tAt	p.S1574Y	JMJD1C_ENST00000399251.1_Missense_Mutation_p.S1355Y|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S1355Y|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1392Y	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	14	38	0	38	1574					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			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTCTGATACAGAATTCCCTGA	0.318000													1	1	1	1	1	1	0.999946	15	41	0	42	1	6.049198e-01	3	4	0	42	5
LRRTM3	347731	broad.mit.edu	37	10	68687299	68687299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:68687299G>T	ENST00000361320.4	+	2	1203	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	33	63	0	99	209						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAGACTCAAAGAACTTCACCT	0.453000													1	1	1	1	1	1	1.000000	36	67	0	109	0	0	0	0	0	109	5
SIRT1	23411	broad.mit.edu	37	10	69672420	69672420	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:69672420G>A	ENST00000212015.6	+	8	1600	c.1547G>A	c.(1546-1548)cGa>cAa	p.R516Q	SIRT1_ENST00000406900.1_Missense_Mutation_p.R213Q|SIRT1_ENST00000403579.1_Missense_Mutation_p.R213Q|SIRT1_ENST00000432464.1_Missense_Mutation_p.R221Q	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	25	48	0	71	516					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	p.R516Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AAACCTCCACGAACACAAAAA	0.388000													1	1	1	1	1	1	1.000000	25	50	0	76	1	9.990805e-01	10	17	0	76	5
MYPN	84665	broad.mit.edu	37	10	69935124	69935124	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:69935124C>T	ENST00000358913.5	+	12	3097	c.2609C>T	c.(2608-2610)cCa>cTa	p.P870L	MYPN_ENST00000354393.2_Missense_Mutation_p.P595L|MYPN_ENST00000540630.1_Missense_Mutation_p.P870L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	14	32	0	50	870						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TCTCCTCAACCAGTGAATGAT	0.423000													1	1	1	1	1	1	0.999954	15	34	0	57	0	0	0	0	0	57	5
MYPN	84665	broad.mit.edu	37	10	69966634	69966634	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:69966634C>T	ENST00000358913.5	+	19	4255	c.3767C>T	c.(3766-3768)tCg>tTg	p.S1256L	MYPN_ENST00000354393.2_Missense_Mutation_p.S981L|MYPN_ENST00000540630.1_Missense_Mutation_p.S1256L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	12	66	0	76	1256	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGCATCGTGTCGTGCACTGCC	0.448000													1	1	1	1	1	1	0.999365	12	69	0	78	0	0	0	0	0	78	5
PBLD	64081	broad.mit.edu	37	10	70045061	70045061	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70045061C>T	ENST00000432941.1	-	9	1000	c.798G>A	c.(796-798)tcG>tcA	p.S266S	PBLD_ENST00000495025.1_5'UTR|PBLD_ENST00000336578.1_Intron|PBLD_ENST00000309049.4_Intron|PBLD_ENST00000358769.2_Intron	NM_001033083.1	NP_001028255.1	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	21	35	0	61	0					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACACTAGCTTCGAATTAGGCA	0.398000													1	0	1	1	0	1	1.000000	21	35	0	64	0	3.253068e-01	1	2	0	64	3
TET1	80312	broad.mit.edu	37	10	70332337	70332337	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70332337G>A	ENST00000373644.4	+	2	451	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	38	85	0	129	81					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	p.R81H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGAGCAGCACGCATGAATTTG	0.438000													1	1	1	1	1	1	1.000000	41	92	0	138	0	0	0	0	0	138	5
TET1	80312	broad.mit.edu	37	10	70405909	70405909	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70405909A>G	ENST00000373644.4	+	4	3632	c.3423A>G	c.(3421-3423)aaA>aaG	p.K1141K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	6	55	0	47	1141					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			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CATTAACAAAACAAAAGAACC	0.388000													1	1	1	1	1	1	0.967499	6	57	0	48	0	1.305361e-02	1	1	0	48	5
CCAR1	55749	broad.mit.edu	37	10	70546342	70546342	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70546342C>T	ENST00000265872.6	+	21	2892	c.2773C>T	c.(2773-2775)Ctg>Ttg	p.L925L	CCAR1_ENST00000535016.1_Silent_p.L910L|CCAR1_ENST00000543719.1_Silent_p.L910L	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	9	17	0	28	925					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			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TAACAGAGATCTGTTAATGGC	0.299000													0	0	1	0	0	1	0.996951	9	17	0	28	1	9.999999e-01	62	55	0	28	1
STOX1	219736	broad.mit.edu	37	10	70641820	70641820	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70641820A>G	ENST00000298596.6	+	2	500	c.417A>G	c.(415-417)gtA>gtG	p.V139V	STOX1_ENST00000399165.4_Silent_p.V139V|STOX1_ENST00000399162.2_Silent_p.V139V|STOX1_ENST00000421961.2_Silent_p.V29V|STOX1_ENST00000399169.4_Silent_p.V139V	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	23	44	0	79	139						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTCAGATTGTAGTAACGCAGG	0.363000													1	1	1	1	1	1	1.000000	23	49	0	85	1	5.173006e-01	2	3	0	85	5
VPS26A	9559	broad.mit.edu	37	10	70928317	70928317	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70928317A>C	ENST00000373382.1	+	9	1453	c.800A>C	c.(799-801)aAa>aCa	p.K267T	VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000546041.1_Missense_Mutation_p.K250T|VPS26A_ENST00000541711.1_Missense_Mutation_p.K156T|VPS26A_ENST00000395098.1_Intron|VPS26A_ENST00000263559.6_Missense_Mutation_p.K267T|VPS26A_ENST00000489794.1_Intron			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	28	39	0	66	267					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GTGAACAAAAAATTTTCAGTA	0.368000													1	1	1	1	1	1	1.000000	30	41	0	75	1	1	65	87	0	75	5
SUPV3L1	6832	broad.mit.edu	37	10	70946299	70946299	+	Silent	SNP	C	C	T	rs149476310		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:70946299C>T	ENST00000359655.4	+	3	510	c.450C>T	c.(448-450)ttC>ttT	p.F150F	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	20	45	0	59	150					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	p.F150F(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATATTTGCTTCGGTGCAGGCA	0.363000													1	1	1	1	1	1	0.999999	21	48	0	62	1	9.964365e-01	7	18	0	62	5
HKDC1	80201	broad.mit.edu	37	10	71020933	71020933	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:71020933T>G	ENST00000354624.5	+	16	2388	c.2255T>G	c.(2254-2256)aTt>aGt	p.I752S	HKDC1_ENST00000395086.2_Missense_Mutation_p.I752S	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	21	45	0	73	752					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TTGGGGGAGATTGTGCGGCAG	0.527000													1	1	1	1	1	1	0.999999	21	48	0	85	1	1	64	68	0	85	5
COL13A1	1305	broad.mit.edu	37	10	71640268	71640268	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:71640268G>A	ENST00000356340.3	+	5	981	c.445G>A	c.(445-447)Gga>Aga	p.G149R	COL13A1_ENST00000520267.1_Intron|COL13A1_ENST00000398969.3_Intron|COL13A1_ENST00000398971.3_Missense_Mutation_p.G149R|COL13A1_ENST00000522165.1_Missense_Mutation_p.G149R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G149R|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000357811.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398973.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G149R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G149R|COL13A1_ENST00000398964.3_Intron|COL13A1_ENST00000398978.3_Missense_Mutation_p.G149R|COL13A1_ENST00000354547.3_Missense_Mutation_p.G149R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G137R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G149R			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	11	29	0	31	149	Triple-helical region 1 (COL1).				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	p.G149R(2)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	GGGGTCCCCCGGAGACGCTGG	0.622000													1	1	1	1	1	1	0.999095	11	30	0	31	0	4.255678e-01	0	5	0	31	5
PRF1	5551	broad.mit.edu	37	10	72360548	72360548	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:72360548G>A	ENST00000441259.1	-	2	271	c.111C>T	c.(109-111)ttC>ttT	p.F37F	PRF1_ENST00000373209.2_Silent_p.F37F	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	7	29	0	32	37	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			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CACCAGGCACGAACTTGTGGC	0.687000			M			various leukaemia, lymphoma	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				1	1	1	1	1	1	0.992080	8	30	0	33	0	9.487551e-01	0	23	0	33	5
ADAMTS14	140766	broad.mit.edu	37	10	72517751	72517751	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:72517751C>T	ENST00000373208.1	+	20	2980	c.2980C>T	c.(2980-2982)Cgg>Tgg	p.R994W	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R991W	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	19	46	0	91	991	TSP type-1 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CATCCAGCAGCGGCAGGTGGT	0.652000													1	1	1	1	1	1	0.999999	20	51	0	97	0	3.281716e-01	0	4	0	97	5
CDH23	64072	broad.mit.edu	37	10	73442306	73442306	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:73442306G>A	ENST00000224721.6	+	17	1983	c.1978G>A	c.(1978-1980)Gtc>Atc	p.V660I	CDH23_ENST00000299366.7_Missense_Mutation_p.V700I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	5	23	0	30	655	Cadherin 6.				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			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAACAGCACCGTCCCTGTCAC	0.552000													1	0	1	1	1	1	0.943142	5	26	0	38	0	0	0	0	0	38	4
C10orf54	64115	broad.mit.edu	37	10	73512742	73512742	+	Missense_Mutation	SNP	G	G	A	rs143020453	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:73512742G>A	ENST00000394957.3	-	5	752	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	8	14	0	18	232						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CTGTCCATCCGCACCAGCTCC	0.572000													1	1	0	1	1	1	0.997050	9	16	0	21	1	9.999830e-01	11	47	0	21	4
CDH23	64072	broad.mit.edu	37	10	73544715	73544715	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:73544715A>G	ENST00000224721.6	+	42	5590	c.5585A>G	c.(5584-5586)aAc>aGc	p.N1862S		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	27	62	0	84	1857	Cadherin 18.				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			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGCCCATGAACATCACCATC	0.597000													1	1	1	1	1	1	1.000000	28	69	0	97	0	0	0	0	0	97	5
MICU1	10367	broad.mit.edu	37	10	74127971	74127971	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:74127971G>A	ENST00000398761.4	-	14	1551	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	MICU1_ENST00000401998.3_Silent_p.F471F|MICU1_ENST00000361114.5_Silent_p.F471F|MICU1_ENST00000398763.4_Silent_p.F273F|MICU1_ENST00000418483.2_Silent_p.F273F			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	12	21	0	34	471					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										TGGGTAAAGCGAAGTCCCAGG	0.587000													1	1	1	1	1	1	0.999637	12	24	0	34	1	9.999999e-01	42	59	0	34	5
MICU1	10367	broad.mit.edu	37	10	74293523	74293523	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:74293523A>C	ENST00000398761.4	-	5	650	c.518T>G	c.(517-519)aTa>aGa	p.I173R	MICU1_ENST00000401998.3_Missense_Mutation_p.I173R|MICU1_ENST00000361114.5_Missense_Mutation_p.I173R			Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	5	7	0	12	173					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										AAAGCGTTTTATTATATATTG	0.294000													0	0	1	1	1	1	0.977511	6	8	0	12	1	9.999926e-01	16	57	0	12	3
ECD	11319	broad.mit.edu	37	10	74916109	74916109	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:74916109T>G	ENST00000372979.4	-	5	720	c.514A>C	c.(514-516)Aat>Cat	p.N172H	ECD_ENST00000430082.1_Missense_Mutation_p.N172H|ECD_ENST00000454759.1_Missense_Mutation_p.N172H	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	32	36	0	48	172					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					GTGATTATATTCAATGCTTGT	0.403000													1	1	1	1	1	1	1.000000	33	36	0	50	1	1	20	31	0	50	5
PPP3CB	5532	broad.mit.edu	37	10	75234763	75234763	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75234763T>G	ENST00000360663.5	-	4	548	c.437A>C	c.(436-438)aAg>aCg	p.K146T	PPP3CB_ENST00000342558.3_Missense_Mutation_p.K146T|PPP3CB_ENST00000394829.2_Missense_Mutation_p.K146T|PPP3CB_ENST00000545874.1_Missense_Mutation_p.K60T|PPP3CB_ENST00000394822.2_Missense_Mutation_p.K164T|PPP3CB_ENST00000394828.2_Missense_Mutation_p.K146T			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	4	41	0	35	146	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					GTATAGAATCTTCAGAACCCA	0.348000													1	0	1	1	1	1	0.941063	5	43	0	44	1	7.233551e-01	2	21	0	44	4
PLAU	5328	broad.mit.edu	37	10	75673107	75673107	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75673107T>C	ENST00000446342.1	+	5	859	c.377T>C	c.(376-378)gTc>gCc	p.V126A	PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.V107A|PLAU_ENST00000372764.3_Missense_Mutation_p.V143A	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	41	73	0	120	143	Kringle.				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			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AAGCTGCTTGTCCAAGAGTGC	0.542000													1	1	1	1	1	1	1.000000	45	79	0	132	1	1	6	58	0	132	5
VCL	7414	broad.mit.edu	37	10	75830449	75830449	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75830449G>A	ENST00000211998.4	+	3	355	c.261G>A	c.(259-261)aaG>aaA	p.K87K	VCL_ENST00000417648.2_Silent_p.K87K|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Silent_p.K87K	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	31	65	0	94	87	N-terminal globular head.				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)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					CTTGCACCAAGCTTGTCCAGG	0.468000													1	1	1	1	1	1	1.000000	36	70	0	110	1	1	34	40	0	110	5
DUSP13	0	broad.mit.edu	37	10	76868869	76868869	+	Translation_Start_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:76868869G>A	ENST00000491677.2	-	0	101				DUSP13_ENST00000372702.3_Missense_Mutation_p.T16M|DUSP13_ENST00000372700.3_Missense_Mutation_p.T16M|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000607131.1_De_novo_Start_OutOfFrame	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	19	33	0	49							cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGGGCAAGGCGTGGCTTTGTC	0.627000													1	1	1	1	1	1	0.999998	19	35	0	50	0	0	0	0	0	50	5
KCNMA1	3778	broad.mit.edu	37	10	78868324	78868324	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:78868324A>G	ENST00000286627.5	-	9	2090	c.1138T>C	c.(1138-1140)Ttt>Ctt	p.F380L	KCNMA1_ENST00000404857.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.F380L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000372440.1_Missense_Mutation_p.F380L|KCNMA1_ENST00000406533.3_Missense_Mutation_p.F380L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.F380L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.F380L	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	17	34	0	66	380					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			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	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)	TAGCTGGCAAACATGGCCTGA	0.468000													1	0	1	1	0	1	0.999991	17	34	0	71	0	1.194969e-01	0	2	0	71	3
DLG5	9231	broad.mit.edu	37	10	79595622	79595622	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:79595622C>T	ENST00000372391.2	-	8	1501	c.1496G>A	c.(1495-1497)cGa>cAa	p.R499Q	DLG5_ENST00000372388.2_Missense_Mutation_p.R499Q	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	20	52	0	62	499					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			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	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)			GCACTGCTTTCGAAGGATTTC	0.597000													1	1	1	1	1	1	0.999999	21	54	0	72	1	9.701021e-01	8	10	0	72	5
NRG3	10718	broad.mit.edu	37	10	84745314	84745314	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:84745314T>A	ENST00000372142.2	+	11	1727	c.1453T>A	c.(1453-1455)Ttt>Att	p.F485I	NRG3_ENST00000372141.2_Missense_Mutation_p.F682I|NRG3_ENST00000404576.2_Missense_Mutation_p.F486I|NRG3_ENST00000537893.1_Missense_Mutation_p.F332I|NRG3_ENST00000404547.1_Missense_Mutation_p.F706I|NRG3_ENST00000556918.1_Missense_Mutation_p.F512I|NRG3_ENST00000545131.1_Missense_Mutation_p.F332I	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	32	51	0	90	706					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGAGGCGCAATTTGTCTTAAG	0.468000													1	1	1	1	1	1	1.000000	33	53	0	95	0	9.682919e-01	0	12	0	95	5
GRID1	2894	broad.mit.edu	37	10	87362273	87362273	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:87362273G>T	ENST00000327946.7	-	16	2872	c.2787C>A	c.(2785-2787)acC>acA	p.T929T	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Silent_p.T500T	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	7	56	0	56	929						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGGCAGAAAGGTGCTGACCG	0.662000										Multiple Myeloma(13;0.14)			1	1	1	1	1	1	0.982676	7	57	0	56	0	0	0	0	0	56	5
GRID1	2894	broad.mit.edu	37	10	87484239	87484239	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:87484239A>G	ENST00000327946.7	-	11	1813	c.1728T>C	c.(1726-1728)gtT>gtC	p.V576V	GRID1_ENST00000536331.1_Silent_p.V147V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	24	51	0	79	576						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCAGCACACCAACCACAGGGA	0.532000										Multiple Myeloma(13;0.14)			1	1	1	1	1	1	1.000000	30	51	0	89	0	0	0	1	0	89	5
GRID1	2894	broad.mit.edu	37	10	87614322	87614322	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:87614322C>T	ENST00000327946.7	-	8	1249	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	29	53	0	80	388						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CATAGGGATTCGAACTGTCCT	0.488000										Multiple Myeloma(13;0.14)			1	1	1	1	1	1	1.000000	30	56	0	90	0	0	0	0	0	90	5
WAPAL	23063	broad.mit.edu	37	10	88277381	88277381	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:88277381C>T	ENST00000298767.5	-	2	918	c.446G>A	c.(445-447)cGa>cAa	p.R149Q		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	16	51	0	60	149	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			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTCTACAATTCGGTTTGTGCT	0.368000													1	1	1	1	1	1	0.999997	19	53	0	65	1	8.839511e-01	5	8	0	65	5
SNCG	6623	broad.mit.edu	37	10	88719763	88719763	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:88719763G>A	ENST00000372017.3	+	3	211	c.169G>A	c.(169-171)Gag>Aag	p.E57K	SNCG_ENST00000348795.4_Missense_Mutation_p.R74Q|SNCG_ENST00000483064.1_3'UTR	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	7	9	0	18	57	4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).					microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding			endometrium(1)|skin(1)	2						CATAGTGGCCGAGAAGACCAA	0.667000													1	1	1	1	1	1	0.988776	7	10	0	18	1	9.999147e-01	27	18	0	18	5
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	rs121913292		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:89692905G>A	ENST00000371953.3	+	5	1746	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	39	63	0	118	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		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.R130Q(62)|p.0?(37)|p.R130fs*4(13)|p.R130L(12)|p.R130P(7)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		GGAAAGGGACGAACTGGTGTA	0.403000	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	1	1	1	1	1	1.000000	42	69	0	136	1	1	41	19	0	136	5
PTEN	5728	broad.mit.edu	37	10	89711983	89711983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:89711983G>T	ENST00000371953.3	+	6	1958	c.601G>T	c.(601-603)Gaa>Taa	p.E201*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	40	62	0	97	201	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.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.F200fs*21(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		GATGATGTTTGAAACTATTCC	0.373000		31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	0	1	1	1	1	1.000000	43	63	1	102	1	9.954839e-01	3	13	1	102	4
PTEN	5728	broad.mit.edu	37	10	89720871	89720871	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:89720871T>G	ENST00000371953.3	+	8	2379	c.1022T>G	c.(1021-1023)tTt>tGt	p.F341C	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	16	33	0	50	341	C2 tensin-type.		F -> V (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).		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.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.F341C(1)|p.W274_F341del(1)|p.S338fs*1(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		TCTCCAAATTTTAAGGTCAGT	0.338000		31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	1	1	1	1	1	0.999996	18	37	0	53	0	1.149425e-01	1	1	0	53	5
LIPK	643414	broad.mit.edu	37	10	90497470	90497470	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:90497470C>T	ENST00000404190.1	+	6	748	c.748C>T	c.(748-750)Cta>Tta	p.L250L		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	30	72	0	99	250					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CAATCGAAAGCTATTCCGTCG	0.383000													1	1	1	1	1	1	1.000000	33	75	0	105	0	0	0	0	0	105	5
IFIT2	3433	broad.mit.edu	37	10	91065810	91065810	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91065810G>T	ENST00000371826.3	+	2	266	c.97G>T	c.(97-99)Gat>Tat	p.D33Y	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	20	39	0	84	33					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				CTCCTTGGATGATTTTGAAGA	0.433000													1	1	1	1	1	1	1.000000	21	42	0	91	1	7.972522e-01	4	4	0	91	5
IFIT1	3434	broad.mit.edu	37	10	91162430	91162430	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91162430G>A	ENST00000546318.1	+	2	1592	c.305G>A	c.(304-306)cGc>cAc	p.R102H	IFIT1_ENST00000371804.3_Missense_Mutation_p.R133H|LIPA_ENST00000371837.1_Intron	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	21	51	0	60	133					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AATCCCTTCCGCTATAGAATG	0.473000													1	1	1	1	1	1	0.999999	21	53	0	65	1	9.859783e-01	7	14	0	65	5
IFIT5	24138	broad.mit.edu	37	10	91178049	91178049	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91178049C>A	ENST00000371795.4	+	2	1306	c.1093C>A	c.(1093-1095)Ctt>Att	p.L365I	IFIT5_ENST00000416601.1_Missense_Mutation_p.L317I	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	7	54	0	65	365							binding			endometrium(1)|large_intestine(4)|lung(4)	9						CCGGAAAGCTCTTCGTCTGGA	0.458000													1	1	1	1	1	1	0.982785	7	54	0	65	1	9.779775e-01	3	54	0	65	5
KIF20B	9585	broad.mit.edu	37	10	91468967	91468967	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91468967G>A	ENST00000416354.1	+	3	263	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	KIF20B_ENST00000371728.3_Missense_Mutation_p.R64Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.R64Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.R64Q			Q96Q89	KI20B_HUMAN	kinesin family member 20B	9	44	0	44	64	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			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GTTTGTCTTCGAATAAGACCA	0.294000													1	1	1	1	1	1	0.995435	9	51	0	51	0	1.909562e-01	1	4	0	51	5
KIF20B	9585	broad.mit.edu	37	10	91470748	91470748	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91470748G>A	ENST00000416354.1	+	6	593	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	KIF20B_ENST00000371728.3_Missense_Mutation_p.R174Q|KIF20B_ENST00000394289.2_Missense_Mutation_p.R174Q|KIF20B_ENST00000260753.4_Missense_Mutation_p.R174Q			Q96Q89	KI20B_HUMAN	kinesin family member 20B	6	21	0	36	174	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			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATTCTGCCTCGAACTTTGAAT	0.328000													1	0	1	1	1	1	0.985528	7	21	0	39	0	0	0	0	0	39	4
KIF20B	9585	broad.mit.edu	37	10	91478603	91478603	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91478603T>C	ENST00000416354.1	+	12	1480	c.1408T>C	c.(1408-1410)Ttg>Ctg	p.L470L	KIF20B_ENST00000371728.3_Silent_p.L470L|KIF20B_ENST00000394289.2_Silent_p.L470L|KIF20B_ENST00000260753.4_Silent_p.L470L			Q96Q89	KI20B_HUMAN	kinesin family member 20B	14	20	0	41	470					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			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACTCAATGTATTGAAGTTCTC	0.254000													1	1	1	1	1	1	0.999924	14	25	0	46	0	0	0	0	0	46	5
KIF20B	9585	broad.mit.edu	37	10	91479274	91479274	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91479274A>C	ENST00000416354.1	+	13	1605	c.1533A>C	c.(1531-1533)aaA>aaC	p.K511N	KIF20B_ENST00000371728.3_Missense_Mutation_p.K511N|KIF20B_ENST00000394289.2_Missense_Mutation_p.K511N|KIF20B_ENST00000260753.4_Missense_Mutation_p.K511N			Q96Q89	KI20B_HUMAN	kinesin family member 20B	11	20	0	26	511					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			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CAAACAGTAAAATATTAAATG	0.353000													1	1	1	1	1	1	0.999842	13	23	0	27	1	6.963907e-01	2	4	0	27	5
KIF20B	9585	broad.mit.edu	37	10	91488915	91488915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91488915G>T	ENST00000416354.1	+	18	2374	c.2302G>T	c.(2302-2304)Gaa>Taa	p.E768*	KIF20B_ENST00000371728.3_Nonsense_Mutation_p.E768*|KIF20B_ENST00000394289.2_Nonsense_Mutation_p.E768*|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.E728*|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	9	21	0	21	768					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			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAGAATTAAAGAATTGATAAA	0.239000													1	1	1	1	1	1	0.996475	9	23	0	21	0	2.156863e-01	0	3	0	21	5
KIF20B	9585	broad.mit.edu	37	10	91528529	91528529	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:91528529C>A	ENST00000416354.1	+	31	5288	c.5216C>A	c.(5215-5217)tCt>tAt	p.S1739Y	KIF20B_ENST00000371728.3_Missense_Mutation_p.S1709Y|KIF20B_ENST00000260753.4_Missense_Mutation_p.S1669Y|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	22	30	0	41	1709	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			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAACATATTCTTTACGGAGT	0.358000													1	1	1	1	1	1	1.000000	22	34	0	42	1	9.921920e-01	3	13	0	42	5
HECTD2	143279	broad.mit.edu	37	10	93258717	93258717	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:93258717G>A	ENST00000446394.1	+	18	1955		c.e18+1		HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000298068.5_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	12	20	0	24						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AATAGAAAAGGTAAGTTAATA	0.274000													1	1	1	1	1	1	0.999686	12	20	0	25	1	3.313725e-01	3	0	0	25	5
KIF11	3832	broad.mit.edu	37	10	94369267	94369267	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:94369267G>T	ENST00000260731.3	+	6	788		c.e6+1			NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	82	180	0	265						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			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATACTCTAGGTAAGAAAGCC	0.413000													1	0	1	1	1	1	1.000000	90	198	0	299	1	3.728750e-01	4	0	0	299	4
KIF11	3832	broad.mit.edu	37	10	94397195	94397195	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:94397195A>G	ENST00000260731.3	+	16	2143	c.2053A>G	c.(2053-2055)Aat>Gat	p.N685D		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	12	19	0	37	685					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			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTGTGTAACAATCTACATGA	0.338000													1	1	1	1	1	1	0.999686	12	20	0	38	1	9.975879e-01	21	2	0	38	5
EXOC6	54536	broad.mit.edu	37	10	94816756	94816756	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:94816756C>T	ENST00000371552.4	+	21	2259	c.2230C>T	c.(2230-2232)Cgg>Tgg	p.R744W	EXOC6_ENST00000260762.6_Missense_Mutation_p.R749W|EXOC6_ENST00000443748.2_Missense_Mutation_p.R646W|EXOC6_ENST00000371547.4_Missense_Mutation_p.R765W	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	24	38	0	57	749					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TAAGTACCTTCGGGTGAATCC	0.403000													1	1	1	1	1	1	1.000000	26	40	0	70	1	9.999971e-01	26	15	0	70	5
CEP55	55165	broad.mit.edu	37	10	95262876	95262876	+	Nonsense_Mutation	SNP	C	C	T	rs146596670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95262876C>T	ENST00000371485.3	+	3	494	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	19	22	0	33	64					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				CTAGAAAATTCGAGTCCTTGA	0.368000													1	1	1	1	1	1	0.999999	19	24	0	35	1	9.945224e-01	5	10	0	35	5
CEP55	55165	broad.mit.edu	37	10	95263099	95263099	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95263099G>A	ENST00000371485.3	+	3	717	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_001127182.1|NM_018131.4	NP_001120654.1|NP_060601.3	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	20	41	0	80	138					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				GCAACCTCACGAATTGCTGAA	0.393000													1	1	1	1	1	1	1.000000	22	47	0	87	1	9.958958e-01	10	13	0	87	5
FRA10AC1	118924	broad.mit.edu	37	10	95445014	95445014	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95445014A>C	ENST00000359204.4	-	9	811	c.614T>G	c.(613-615)cTt>cGt	p.L205R	FRA10AC1_ENST00000394100.2_Missense_Mutation_p.L205R|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.L205R|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.L205R	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	17	62	0	55	205	Lys-rich.					nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TAATTTAACAAGTGCATTTCT	0.264000													1	1	1	1	1	1	0.999992	18	66	0	62	1	9.974257e-01	6	33	0	62	5
FRA10AC1	118924	broad.mit.edu	37	10	95459799	95459799	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:95459799T>G	ENST00000359204.4	-	2	262	c.65A>C	c.(64-66)aAa>aCa	p.K22T	FRA10AC1_ENST00000394100.2_Missense_Mutation_p.K22T|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.K22T|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.K22T	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	13	15	0	30	22						nucleus	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TTTTTTCCTTTTGCTGGATTC	0.299000													1	1	1	1	1	1	0.999883	13	17	0	31	1	9.999997e-01	27	32	0	31	5
PLCE1	51196	broad.mit.edu	37	10	96030304	96030304	+	Nonsense_Mutation	SNP	C	C	A	rs121912605		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:96030304C>A	ENST00000260766.3	+	18	5085	c.4451C>A	c.(4450-4452)tCg>tAg	p.S1484*	PLCE1_ENST00000371380.2_Nonsense_Mutation_p.S1484*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.S1176*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.S1176*	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	31	58	0	115	1484	PI-PLC X-box.		S -> L (in NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis).		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			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCATCATATCGATTGAGAAC	0.438000													1	1	1	1	1	1	1.000000	33	62	0	116	0	2.845093e-01	0	3	0	116	5
PLCE1	51196	broad.mit.edu	37	10	96073057	96073057	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:96073057C>T	ENST00000260766.3	+	28	6684	c.6050C>T	c.(6049-6051)aCg>aTg	p.T2017M	PLCE1_ENST00000371380.2_Missense_Mutation_p.T2017M|PLCE1_ENST00000371385.3_Missense_Mutation_p.T1709M|PLCE1_ENST00000371375.1_Missense_Mutation_p.T1709M	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	30	66	1	138	2017	Ras-associating 1.				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			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CACAGAGTCACGGTGCATGGG	0.458000													1	0	1	1	1	1	1.000000	31	70	1	149	1	8.848246e-01	7	4	1	149	4
HELLS	3070	broad.mit.edu	37	10	96354558	96354558	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:96354558T>G	ENST00000348459.5	+	19	2300	c.2195T>G	c.(2194-2196)aTt>aGt	p.I732S	HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.I778S|HELLS_ENST00000394036.1_3'UTR|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Missense_Mutation_p.I634S	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	4	26	0	33	732	Helicase C-terminal.				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			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GATCAGAAAATTGTGGAAAGA	0.373000													1	1	1	1	1	1	0.942616	5	29	0	33	1	9.748902e-01	5	40	0	33	5
TCTN3	26123	broad.mit.edu	37	10	97443223	97443223	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97443223C>T	ENST00000371209.5	-	10	1258	c.1259G>A	c.(1258-1260)gGc>gAc	p.G420D	TCTN3_ENST00000265993.8_Intron|TCTN3_ENST00000371217.4_Intron|TCTN3_ENST00000430368.1_Intron			Q6NUS6	TECT3_HUMAN	tectonic family member 3	7	19	0	37	0					apoptosis	integral to membrane				breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)		AGTTTGAAAGCCTTTGCAGCT	0.368000													0	0	1	0	0	1	0.985917	7	19	0	38	1	9.999953e-01	117	0	0	38	1
CC2D2B	387707	broad.mit.edu	37	10	97772424	97772424	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97772424A>G	ENST00000344386.3	+	4	420	c.256A>G	c.(256-258)Aag>Gag	p.K86E	CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.K86E|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	14	34	0	35	86										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AAGATATATCAAGGCATTAAA	0.299000													1	1	1	1	1	1	0.999951	15	37	0	40	0	9.158249e-02	0	2	0	40	5
CC2D2B	387707	broad.mit.edu	37	10	97772451	97772451	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:97772451C>T	ENST00000344386.3	+	4	447	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.L95L|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	10	27	0	30	95										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TCAGCAACTTCTGGATATATT	0.318000													1	1	1	1	1	1	0.999557	12	32	0	37	0	0	0	0	0	37	5
TM9SF3	56889	broad.mit.edu	37	10	98336396	98336396	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:98336396A>C	ENST00000371142.4	-	2	509	c.293T>G	c.(292-294)tTt>tGt	p.F98C		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	6	49	0	58	98						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		CTTACCTTTAAATTTAATATC	0.353000													0	0	1	0	0	1	0.967588	6	55	0	64	1	9.883819e-01	11	71	0	64	1
SLIT1	6585	broad.mit.edu	37	10	98825776	98825776	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:98825776T>G	ENST00000266058.4	-	5	726	c.481A>C	c.(481-483)Aat>Cat	p.N161H	SLIT1_ENST00000371041.3_Missense_Mutation_p.N161H|SLIT1_ENST00000371070.4_Missense_Mutation_p.N161H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	4	5	0	8	161					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			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACTCACAAATTTTTAAGGTCC	0.587000													0	0	1	1	0	1	0.908669	4	5	0	10	0	0	0	1	0	10	2
ZFYVE27	118813	broad.mit.edu	37	10	99498292	99498292	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:99498292G>A	ENST00000393677.4	+	2	262	c.58G>A	c.(58-60)Gag>Aag	p.E20K	ZFYVE27_ENST00000356257.4_Missense_Mutation_p.E20K|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.E20K|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.E20K|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.E20K|ZFYVE27_ENST00000337540.7_Missense_Mutation_p.E20K|ZFYVE27_ENST00000370610.3_Intron|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.E20K	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	53	65	0	153	20					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			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		CGTGATGCCCGAGGCTCCCCT	0.537000													1	1	1	1	1	1	1.000000	58	69	0	166	1	1	28	19	0	166	5
R3HCC1L	27291	broad.mit.edu	37	10	99968024	99968024	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:99968024A>G	ENST00000298999.3	+	5	456	c.153A>G	c.(151-153)caA>caG	p.Q51Q	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Silent_p.Q51Q|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like	8	59	0	54																		AAGAAAAGCAAAAAGAAAGTT	0.403000													1	1	1	1	0	1	0.995272	9	60	0	57	1	3.138323e-01	2	6	0	57	4
HPS1	3257	broad.mit.edu	37	10	100189343	100189343	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:100189343G>A	ENST00000325103.6	-	10	1157	c.924C>T	c.(922-924)ggC>ggT	p.G308G	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.G308G|HPS1_ENST00000338546.5_Silent_p.G308G	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	12	34	0	39	308					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCTCTGATCGCCAGGGGAAG	0.587000									Hermansky-Pudlak syndrome				1	1	1	1	1	1	0.999894	14	37	0	41	1	1	40	85	0	41	5
CNNM1	26507	broad.mit.edu	37	10	101124759	101124759	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101124759C>T	ENST00000356713.4	+	6	2465	c.2176_splice	c.e6+1	p.L726_splice	CNNM1_ENST00000370528.3_Splice_Site_p.L655_splice|CNNM1_ENST00000370534.4_Splice_Site_p.L361_splice|CNNM1_ENST00000446890.1_Splice_Site_p.L655_splice	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	15	16	0	37	726					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TTCTGTCTTTCGTATGTATCT	0.547000													1	1	1	1	1	1	0.999999	18	18	0	41	0	0	0	0	0	41	5
GOT1	2805	broad.mit.edu	37	10	101157417	101157417	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101157417C>A	ENST00000370508.5	-	9	1156	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	GOT1_ENST00000543866.1_Nonsense_Mutation_p.E356*	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	35	64	0	94	377					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATGTGCTTTTCATTGACCAGA	0.458000													1	1	1	1	1	1	1.000000	35	67	0	100	1	1	88	85	0	100	5
ABCC2	1244	broad.mit.edu	37	10	101556891	101556891	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101556891G>A	ENST00000370449.4	+	7	783	c.670G>A	c.(670-672)Gag>Aag	p.E224K	ABCC2_ENST00000370434.1_Missense_Mutation_p.E224K	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	18	37	0	53	224						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		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)	TCTGACACTCGAGGATGTCTG	0.517000													1	1	1	1	1	1	0.999998	19	40	0	57	0	0	0	0	0	57	5
ABCC2	1244	broad.mit.edu	37	10	101605492	101605492	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101605492T>C	ENST00000370449.4	+	29	4212	c.4099T>C	c.(4099-4101)Tcc>Ccc	p.S1367P		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	12	16	0	37	1367	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		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)	AGATATTGCTTCCATTGGGCT	0.527000											OREG0020434	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1	1	1	1	0.999743	12	16	0	39	0	0	1	0	0	39	4
ABCC2	1244	broad.mit.edu	37	10	101606730	101606730	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101606730T>C	ENST00000370449.4	+	30	4272	c.4159T>C	c.(4159-4161)Ttc>Ctc	p.F1387L		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	48	362	0	384	1387	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		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)	CCCCATCCTGTTCTCTGGAAG	0.537000													1	1	1	1	1	1	1.000000	53	404	0	434	0	3.878203e-02	0	3	0	434	5
DNMBP	23268	broad.mit.edu	37	10	101637071	101637071	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101637071A>G	ENST00000342239.3	-	17	4734	c.4643T>C	c.(4642-4644)tTc>tCc	p.F1548S	DNMBP_ENST00000543621.1_Missense_Mutation_p.F770S|DNMBP_ENST00000540316.1_Missense_Mutation_p.F460S|DNMBP_ENST00000324109.4_Missense_Mutation_p.F1524S			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	36	63	0	96	1524	SH3 6.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCGTGCCTTGAAGGTGTAGAC	0.483000													1	1	1	1	1	1	1.000000	38	69	0	105	1	9.999910e-01	15	24	0	105	5
CPN1	1369	broad.mit.edu	37	10	101816907	101816907	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:101816907T>G	ENST00000370418.3	-	6	1125	c.874A>C	c.(874-876)Atg>Ctg	p.M292L		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	61	125	0	223	292	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AAGTCTTGCATTCCTAAGGGA	0.458000													1	0	1	1	1	1	1.000000	66	139	1	255	0	0	0	0	1	255	4
WNT8B	7479	broad.mit.edu	37	10	102242045	102242045	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:102242045G>T	ENST00000343737.5	+	6	656	c.528G>T	c.(526-528)atG>atT	p.M176I		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	18	19	0	41	176					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		AGGGCACCATGAAACGCACGT	0.637000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999998	18	22	0	44	0	0	0	0	0	44	5
LZTS2	84445	broad.mit.edu	37	10	102766522	102766522	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:102766522G>A	ENST00000370220.1	+	4	4670	c.1607G>A	c.(1606-1608)gGa>gAa	p.G536E	LZTS2_ENST00000370223.3_Missense_Mutation_p.G536E			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	9	19	0	39	536	Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAGGCGGCCGGACTCCGGGAG	0.677000													1	1	1	1	1	1	0.999228	11	23	0	43	1	1	77	80	0	43	5
PPRC1	23082	broad.mit.edu	37	10	103898913	103898913	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:103898913G>T	ENST00000278070.2	+	5	687	c.648G>T	c.(646-648)gaG>gaT	p.E216D	PPRC1_ENST00000413464.2_Missense_Mutation_p.E216D	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	7	100	0	126	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTTTCTTAGAGACCTCTTCCC	0.552000													1	0	1	1	0	1	0.990207	8	107	0	133	0	5.975602e-01	0	27	0	133	3
PPRC1	23082	broad.mit.edu	37	10	103899139	103899139	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:103899139A>C	ENST00000278070.2	+	5	913	c.874A>C	c.(874-876)Atg>Ctg	p.M292L	PPRC1_ENST00000413464.2_Missense_Mutation_p.M292L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	9	98	0	119	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCAGCAGAGATGGCAGTGCC	0.587000													1	1	1	1	0	1	0.994846	9	103	0	127	0	5.648580e-01	0	22	0	127	4
GBF1	8729	broad.mit.edu	37	10	104130495	104130495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:104130495C>T	ENST00000369983.3	+	29	3795	c.3535C>T	c.(3535-3537)Cga>Tga	p.R1179*		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	30	69	1	110	1179					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			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GCAGACTGTTCGAGACCATCT	0.567000													1	0	1	1	1	1	1.000000	32	80	1	123	0	9.965993e-01	2	31	1	123	4
CYP17A1	1586	broad.mit.edu	37	10	104592872	104592872	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:104592872C>A	ENST00000369887.3	-	5	1018	c.847G>T	c.(847-849)Gac>Tac	p.D283Y	CYP17A1-AS1_ENST00000369884.4_RNA	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	27	55	0	81	283					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	AGCTCTGAGTCTTGATCTGGG	0.512000													1	1	1	1	1	1	1.000000	28	56	0	82	0	0	0	0	0	82	5
INA	9118	broad.mit.edu	37	10	105037959	105037959	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105037959G>A	ENST00000369849.4	+	1	1040	c.991G>A	c.(991-993)Ggg>Agg	p.G331R		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	5	11	0	23	331	Coil 2.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGGCCTGCGCGGGGCCAACGA	0.711000													1	0	1	1	0	1	0.948337	5	12	0	23	1	3.779904e-01	2	2	0	23	3
TAF5	6877	broad.mit.edu	37	10	105139386	105139386	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105139386G>T	ENST00000369839.3	+	4	1158	c.1135G>T	c.(1135-1137)Gaa>Taa	p.E379*	TAF5_ENST00000351396.4_Nonsense_Mutation_p.E379*	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	7	22	0	34	379					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			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		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)		TTTATTAAAAGAACCAGAAAT	0.299000													1	0	0	1	1	1	0.992589	8	24	0	37	0	5.723161e-01	0	7	0	37	3
TAF5	6877	broad.mit.edu	37	10	105147069	105147069	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105147069T>C	ENST00000369839.3	+	9	1990	c.1967T>C	c.(1966-1968)gTc>gCc	p.V656A	TAF5_ENST00000351396.4_Missense_Mutation_p.V601A	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	6	44	0	48	656					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			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		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)		CTCTGGGACGTCCTGAATGGT	0.413000													1	1	1	1	1	1	0.967893	6	49	0	55	1	1.238601e-01	2	3	0	55	5
TAF5	6877	broad.mit.edu	37	10	105147784	105147784	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105147784G>A	ENST00000369839.3	+	11	2230	c.2207G>A	c.(2206-2208)cGa>cAa	p.R736Q	TAF5_ENST00000351396.4_Missense_Mutation_p.R681Q	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	21	45	0	77	736					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			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		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)		AATACAGTTCGATTATGGGAT	0.373000													1	1	1	1	1	1	1.000000	25	51	0	91	1	9.108643e-01	2	9	0	91	5
PDCD11	22984	broad.mit.edu	37	10	105158249	105158249	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105158249T>G	ENST00000369797.3	+	2	160	c.66T>G	c.(64-66)gcT>gcG	p.A22A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	30	57	0	65	22					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		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)		CAGAGAAAGCTTTCCAGCAGT	0.403000													1	1	1	1	1	1	1.000000	32	63	0	71	1	9.565978e-01	7	6	0	71	5
OBFC1	79991	broad.mit.edu	37	10	105648830	105648830	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105648830G>A	ENST00000224950.3	-	9	1116	c.949_splice	c.e9+1	p.H317_splice	OBFC1_ENST00000369764.1_Splice_Site_p.H317_splice|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	18	32	0	54	317					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	p.H317Y(2)		large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TACCACTTACGATTTGGTTTC	0.498000													1	1	1	1	1	1	0.999999	20	35	0	62	1	9.999999e-01	28	40	0	62	5
SFR1	119392	broad.mit.edu	37	10	105882653	105882653	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105882653T>C	ENST00000336358.5	+	1	649	c.130T>C	c.(130-132)Tat>Cat	p.Y44H	SFR1_ENST00000369727.3_Intron|SFR1_ENST00000463224.1_Intron|SFR1_ENST00000369729.3_Intron			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	6	14	0	15	0					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										CAATACAATATATTATTTGAT	0.289000													1	0	1	1	1	1	0.973531	6	14	0	16	0	0	0	1	0	16	4
SFR1	119392	broad.mit.edu	37	10	105885398	105885398	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105885398A>G	ENST00000336358.5	+	3	1379	c.860A>G	c.(859-861)cAc>cGc	p.H287R	SFR1_ENST00000369727.3_Missense_Mutation_p.H225R|SFR1_ENST00000369729.3_Missense_Mutation_p.H212R			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	12	29	0	39	225					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										TTGATAGACCACTATGGGTTA	0.353000													1	1	1	1	1	1	0.999557	12	32	0	47	1	9.997852e-01	25	24	0	47	5
WDR96	80217	broad.mit.edu	37	10	105907729	105907729	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105907729A>G	ENST00000357060.3	-	29	3803	c.3688T>C	c.(3688-3690)Ttt>Ctt	p.F1230L	WDR96_ENST00000428666.1_Missense_Mutation_p.F1231L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	7	21	0	17	1230										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AATAAAGAAAATGCAAGGTTA	0.338000													1	1	1	1	1	1	0.992589	8	24	0	19	0	0	1	0	0	19	5
WDR96	80217	broad.mit.edu	37	10	105923953	105923953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:105923953G>A	ENST00000357060.3	-	24	3260	c.3145C>T	c.(3145-3147)Cga>Tga	p.R1049*	WDR96_ENST00000428666.1_Nonsense_Mutation_p.R1050*	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	10	29	0	33	1049								p.R1049*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATAATTTCTCGAATTCGAACA	0.373000													1	1	1	1	1	1	0.999111	11	29	0	34	1	3.258834e-01	2	2	0	34	5
CCDC147	159686	broad.mit.edu	37	10	106209891	106209891	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:106209891G>T	ENST00000369704.3	+	17	2573	c.2439G>T	c.(2437-2439)gaG>gaT	p.E813D		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	24	48	0	53	813										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		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)		ATGAGGTAGAGAAACTTACCA	0.318000													1	1	1	1	1	1	1.000000	26	51	0	55	0	0	0	0	0	55	5
SMC3	9126	broad.mit.edu	37	10	112361580	112361580	+	Nonsense_Mutation	SNP	C	C	T	rs139627416		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:112361580C>T	ENST00000361804.4	+	24	2956	c.2830C>T	c.(2830-2832)Cga>Tga	p.R944*		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	24	57	0	105	944					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	p.R944*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		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)		GAAGAAAATTCGAGAACTTGG	0.368000													1	1	1	1	1	1	1.000000	28	63	0	114	1	9.999998e-01	5	62	0	114	5
ACSL5	51703	broad.mit.edu	37	10	114169443	114169443	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:114169443G>A	ENST00000393081.1	+	7	1018	c.711_splice	c.e7+1	p.E237_splice	ACSL5_ENST00000354273.4_Splice_Site_p.E237_splice|ACSL5_ENST00000356116.1_Splice_Site_p.E293_splice|ACSL5_ENST00000433418.1_Splice_Site_p.E237_splice|ACSL5_ENST00000369410.3_5'UTR|ACSL5_ENST00000354655.4_Splice_Site_p.E237_splice	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	30	85	0	113	237					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			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATGATGCTGAGGTATGGATCT	0.468000													1	1	1	1	1	1	1.000000	33	90	0	123	0	9.999772e-01	1	50	0	123	5
TCF7L2	6934	broad.mit.edu	37	10	114912121	114912121	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:114912121G>A	ENST00000355995.4	+	11	1698	c.1191G>A	c.(1189-1191)gcG>gcA	p.A397A	TCF7L2_ENST00000534894.1_Silent_p.A397A|TCF7L2_ENST00000369397.4_Silent_p.A374A|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000352065.5_Silent_p.A374A|TCF7L2_ENST00000369389.1_Silent_p.A108A|TCF7L2_ENST00000536810.1_Silent_p.A397A|TCF7L2_ENST00000538897.1_Silent_p.A397A|TCF7L2_ENST00000542695.1_Silent_p.A113A|TCF7L2_ENST00000369386.1_Silent_p.A40A|TCF7L2_ENST00000543371.1_Silent_p.A397A|TCF7L2_ENST00000355717.4_Silent_p.A421A|TCF7L2_ENST00000545257.1_Silent_p.A397A			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	101	237	0	380	397					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.A397A(1)|p.A374A(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AAGAGCAAGCGAAATACTACG	0.502000			T	VTI1A	colorectal								1	1	1	1	1	1	1.000000	115	270	0	451	1	9.972928e-01	13	11	0	451	5
HABP2	3026	broad.mit.edu	37	10	115335708	115335708	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115335708G>A	ENST00000537906.1	+	5	404	c.242G>A	c.(241-243)gGa>gAa	p.G81E	HABP2_ENST00000351270.3_Silent_p.G92G|HABP2_ENST00000541666.1_Silent_p.G92G|HABP2_ENST00000542051.1_Silent_p.G66G			Q14520	HABP2_HUMAN	hyaluronan binding protein 2	58	117	0	210	0	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		TCGTCCATGGGAGCACCTTCA	0.527000													1	1	1	1	1	1	1.000000	61	136	0	239	1	1	30	35	0	239	5
HABP2	3026	broad.mit.edu	37	10	115337894	115337894	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115337894C>A	ENST00000351270.3	+	6	654	c.558C>A	c.(556-558)ttC>ttA	p.F186L	HABP2_ENST00000541666.1_Missense_Mutation_p.F186L|HABP2_ENST00000537906.1_Missense_Mutation_p.S175Y|HABP2_ENST00000542051.1_Missense_Mutation_p.F160L	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	33	34	0	70	186	EGF-like 3.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AGGGGAAATTCTGTGAAATAG	0.537000													1	1	1	1	1	1	1.000000	39	36	0	79	1	1	23	40	0	79	5
NRAP	4892	broad.mit.edu	37	10	115389405	115389405	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115389405A>G	ENST00000369358.4	-	19	2250	c.2006T>C	c.(2005-2007)gTg>gCg	p.V669A	NRAP_ENST00000360478.3_Missense_Mutation_p.V626A|NRAP_ENST00000359988.3_Missense_Mutation_p.V661A|NRAP_ENST00000369360.3_Missense_Mutation_p.V634A			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	27	53	0	77	661						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTCAGGCAGCACAGTGTATTC	0.498000													1	1	1	1	1	1	1.000000	29	63	0	89	0	0	0	0	0	89	5
NRAP	4892	broad.mit.edu	37	10	115413816	115413816	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115413816A>G	ENST00000369358.4	-	5	673	c.429T>C	c.(427-429)atT>atC	p.I143I	NRAP_ENST00000360478.3_Silent_p.I143I|NRAP_ENST00000359988.3_Silent_p.I143I|NRAP_ENST00000369360.3_Silent_p.I143I			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	79	139	0	233	143						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCATCCTTACAATTTCGGGGT	0.453000													1	1	1	1	1	1	1.000000	96	165	0	280	0	0	0	0	0	280	5
CASP7	840	broad.mit.edu	37	10	115489079	115489079	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115489079C>T	ENST00000369321.2	+	8	1111	c.791C>T	c.(790-792)tCg>tTg	p.S264L	CASP7_ENST00000369318.3_Missense_Mutation_p.S231L|CASP7_ENST00000369331.4_Missense_Mutation_p.R220C|CASP7_ENST00000369315.1_Missense_Mutation_p.S231L|CASP7_ENST00000345633.4_Missense_Mutation_p.S231L|CASP7_ENST00000452490.2_Missense_Mutation_p.S206L	NM_033338.5	NP_203124.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	26	56	0	107	231					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		GGCTATTACTCGTGGAGGAGC	0.507000													1	1	1	1	1	1	1.000000	30	64	0	121	1	1	50	76	0	121	5
PLEKHS1	79949	broad.mit.edu	37	10	115527103	115527103	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115527103G>T	ENST00000361048.1	+	5	551		c.e5-1		PLEKHS1_ENST00000369312.4_Splice_Site|PLEKHS1_ENST00000369310.3_Splice_Site	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1	7	17	0	15																		ATATCTAATAGAAATTCCAGT	0.338000													1	0	1	1	1	1	0.985917	7	19	0	20	0	0	0	0	0	20	4
PLEKHS1	79949	broad.mit.edu	37	10	115529640	115529640	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115529640G>T	ENST00000361048.1	+	7	860	c.533G>T	c.(532-534)aGa>aTa	p.R178I	PLEKHS1_ENST00000369312.4_Missense_Mutation_p.R90I|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.R172I	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1	15	103	0	141																		AGCTCACCAAGAAATGGTCTC	0.488000													1	1	1	1	1	1	0.999989	18	112	0	161	1	9.059149e-01	11	17	0	161	5
TDRD1	56165	broad.mit.edu	37	10	115980359	115980359	+	Nonsense_Mutation	SNP	G	G	T	rs79200516		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:115980359G>T	ENST00000251864.2	+	19	2680	c.2527G>T	c.(2527-2529)Gaa>Taa	p.E843*	TDRD1_ENST00000369280.1_Nonsense_Mutation_p.E843*|TDRD1_ENST00000369282.1_Nonsense_Mutation_p.E843*|TDRD1_ENST00000422662.1_Nonsense_Mutation_p.E447*|TDRD1_ENST00000369281.2_Nonsense_Mutation_p.E729*	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	24	48	0	59	843					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			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTGGTCTGAAGAAGCCATAAC	0.378000													1	1	0	1	1	1	1.000000	25	59	0	63	0	0	0	0	0	63	4
PNLIP	5406	broad.mit.edu	37	10	118307936	118307936	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118307936T>G	ENST00000369221.2	+	4	294	c.266T>G	c.(265-267)tTt>tGt	p.F89C	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	12	66	0	111	89					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AAAACTCGCTTTATTATTCAT	0.403000													1	1	1	1	1	1	0.999362	12	70	0	117	0	0	0	0	0	117	5
PNLIPRP1	5407	broad.mit.edu	37	10	118355761	118355761	+	Silent	SNP	C	C	A	rs35466965		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118355761C>A	ENST00000528052.1	+	6	572	c.501C>A	c.(499-501)ctC>ctA	p.L167L	PNLIPRP1_ENST00000358834.4_Silent_p.L167L|PNLIPRP1_ENST00000534537.1_Silent_p.L167L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	68	141	0	284	167					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AAGTTCACCTCATTGGCCACA	0.532000													1	1	1	1	1	1	1.000000	83	160	0	332	0	0	0	0	0	332	5
PNLIPRP1	5407	broad.mit.edu	37	10	118359564	118359564	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118359564C>T	ENST00000528052.1	+	9	891	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R274W|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R274W			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	26	71	0	107	274					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCCAGGAACCCGGGACTTTGT	0.488000													1	1	1	1	1	1	1.000000	27	74	0	115	0	0	0	0	0	115	5
HSPA12A	259217	broad.mit.edu	37	10	118434331	118434331	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:118434331C>T	ENST00000369209.3	-	12	2093	c.1989G>A	c.(1987-1989)tcG>tcA	p.S663S		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	16	31	0	77	663							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGACACTCTTCGAAGTGGCTA	0.557000													1	0	1	1	1	1	0.999977	16	38	0	80	0	9.586466e-02	1	1	0	80	4
RAB11FIP2	22841	broad.mit.edu	37	10	119798541	119798541	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:119798541C>A	ENST00000355624.3	-	3	1646	c.1207G>T	c.(1207-1209)Gag>Tag	p.E403*	RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Nonsense_Mutation_p.E403*	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	22	42	0	58	403					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTGGTTGACTCATAATCAAAA	0.368000													1	1	1	1	1	1	1.000000	23	46	0	61	0	7.327240e-01	0	7	0	61	5
CACUL1	143384	broad.mit.edu	37	10	120450802	120450802	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120450802C>A	ENST00000369151.3	-	7	1483	c.1000G>T	c.(1000-1002)Gaa>Taa	p.E334*	CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3			CDK2-associated, cullin domain 1	51	122	0	158																		TGTATAAGTTCTCTTTGAAAT	0.388000													1	1	1	1	1	1	1.000000	56	135	0	174	1	9.667643e-01	5	11	0	174	5
EIF3A	8661	broad.mit.edu	37	10	120816463	120816463	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120816463C>T	ENST00000369144.3	-	13	2194	c.2067G>A	c.(2065-2067)aaG>aaA	p.K689K	EIF3A_ENST00000541549.1_Silent_p.K655K|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	11	22	0	22	689	Glu-rich.|Interaction with EIF3B.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TTTCTTGATTCTTTAGGCGTT	0.348000													1	1	1	1	1	1	0.999228	11	23	0	22	1	1	91	111	0	22	5
FAM45A	404636	broad.mit.edu	37	10	120877030	120877030	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120877030G>A	ENST00000361432.2	+	4	358		c.e4-1		FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000489988.1_Splice_Site|FAM45A_ENST00000535029.1_Splice_Site	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	42	71	0	87											breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CTTTCTTACAGAATGTACCTG	0.443000													1	1	1	1	1	1	1.000000	45	74	0	94	1	7.284907e-01	6	0	0	94	5
SFXN4	119559	broad.mit.edu	37	10	120907363	120907363	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:120907363C>A	ENST00000355697.2	-	12	761	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Nonsense_Mutation_p.E239*	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	38	45	0	72	248					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GCTAGCGTTTCTCTAACAGCC	0.488000													1	1	1	1	1	1	1.000000	39	47	0	77	1	9.999997e-01	5	32	0	77	5
MCMBP	79892	broad.mit.edu	37	10	121600381	121600381	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:121600381G>A	ENST00000360003.3	-	11	1391	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	MCMBP_ENST00000369077.3_Nonsense_Mutation_p.R406*|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	14	22	0	24	408					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TGAATAATTCGATACAAGTGT	0.333000													1	1	1	1	0	1	0.999927	14	23	0	29	1	1	3	88	0	29	4
DMBT1	1755	broad.mit.edu	37	10	124345687	124345687	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:124345687A>C	ENST00000368909.3	+	16	1677	c.1571A>C	c.(1570-1572)gAc>gCc	p.D524A	DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.D514A|DMBT1_ENST00000344338.3_Missense_Mutation_p.D514A|DMBT1_ENST00000338354.3_Missense_Mutation_p.D524A|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	156	558	0	731	524	SRCR 4.				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			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACAGCTGGGACACCAATGAT	0.612000													1	1	1	1	1	1	1.000000	170	598	0	780	1	1	11	27	0	780	5
DMBT1	1755	broad.mit.edu	37	10	124390744	124390744	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:124390744G>A	ENST00000368909.3	+	46	6012	c.5906G>A	c.(5905-5907)gGc>gAc	p.G1969D	DMBT1_ENST00000368956.2_Missense_Mutation_p.G1341D|DMBT1_ENST00000368955.3_Missense_Mutation_p.G1959D|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1959D|DMBT1_ENST00000338354.3_Missense_Mutation_p.G1969D|DMBT1_ENST00000359586.6_Missense_Mutation_p.G689D|DMBT1_ENST00000330163.4_Missense_Mutation_p.G1341D	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	52	97	1	165	1969	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			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGGAACCGAGGCTGGTTCTCC	0.532000													1	0	1	1	1	1	1.000000	57	109	1	193	1	1	696	748	1	193	4
CUZD1	50624	broad.mit.edu	37	10	124594383	124594383	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:124594383C>A	ENST00000368904.1	-	9	2170	c.1221G>T	c.(1219-1221)aaG>aaT	p.K407N	CUZD1_ENST00000392790.1_Missense_Mutation_p.K407N|CUZD1_ENST00000545804.1_Missense_Mutation_p.K407N			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	8	25	0	26	407	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAAGTATAGTCTTTTCAAATG	0.333000													1	1	1	1	1	1	0.992400	8	26	0	26	0	0	0	0	0	26	5
CTBP2	1488	broad.mit.edu	37	10	126678217	126678217	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:126678217A>G	ENST00000309035.6	-	9	2958	c.2828T>C	c.(2827-2829)aTg>aCg	p.M943T	CTBP2_ENST00000337195.5_Missense_Mutation_p.M403T|CTBP2_ENST00000494626.2_Missense_Mutation_p.M403T|CTBP2_ENST00000531469.1_Missense_Mutation_p.M403T|CTBP2_ENST00000411419.2_Missense_Mutation_p.M403T|CTBP2_ENST00000334808.6_Missense_Mutation_p.M471T	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	10	44	0	48	403					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			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		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)		GATCCCTTCCATGGCTGCAGG	0.577000													1	1	1	1	1	1	0.997722	10	49	0	50	1	9.999961e-01	41	113	0	50	5
CTBP2	1488	broad.mit.edu	37	10	126682453	126682453	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:126682453G>A	ENST00000309035.6	-	6	2632	c.2502C>T	c.(2500-2502)gcC>gcT	p.A834A	CTBP2_ENST00000337195.5_Silent_p.A294A|CTBP2_ENST00000494626.2_Silent_p.A294A|CTBP2_ENST00000531469.1_Silent_p.A294A|CTBP2_ENST00000411419.2_Silent_p.A294A|CTBP2_ENST00000334808.6_Silent_p.A362A	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	47	119	1	200	294					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			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		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)		GCACGTCGAGGGCTGCCCCTC	0.637000													1	0	1	1	1	1	1.000000	49	127	1	219	1	1	67	55	1	219	4
C10orf137	26098	broad.mit.edu	37	10	127418874	127418874	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:127418874T>G	ENST00000337623.3	+	8	1037	c.932T>G	c.(931-933)aTt>aGt	p.I311S	C10orf137_ENST00000356792.4_Missense_Mutation_p.I345S	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	15	53	0	49	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACAAACCAATTAATGTGCTA	0.308000													1	1	1	1	1	1	0.999984	17	62	0	50	1	8.298072e-01	7	7	0	50	5
FANK1	92565	broad.mit.edu	37	10	127668792	127668792	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:127668792G>T	ENST00000368695.1	+	2	180	c.58G>T	c.(58-60)Gaa>Taa	p.E20*	FANK1_ENST00000449042.2_Nonsense_Mutation_p.E20*|FANK1_ENST00000368693.1_Nonsense_Mutation_p.E26*|FANK1_ENST00000368689.1_Nonsense_Mutation_p.E20*	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	19	41	0	63	26	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TCACAGCATTGAATTATACTG	0.453000													1	1	1	1	1	1	0.999999	20	44	0	67	1	6.948769e-01	2	5	0	67	5
C10orf90	118611	broad.mit.edu	37	10	128193194	128193194	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:128193194G>T	ENST00000284694.7	-	3	695	c.575C>A	c.(574-576)tCt>tAt	p.S192Y	C10orf90_ENST00000544758.1_Missense_Mutation_p.S289Y|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.S145Y|C10orf90_ENST00000454341.1_Missense_Mutation_p.S192Y|C10orf90_ENST00000392694.1_Missense_Mutation_p.S145Y	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	29	76	0	128	192										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		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)		GCAGGCAAAAGATCTCTGATG	0.622000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	29	80	0	140	0	0	0	0	0	140	5
DOCK1	1793	broad.mit.edu	37	10	128821490	128821490	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:128821490A>C	ENST00000280333.6	+	14	1400	c.1291A>C	c.(1291-1293)Aca>Cca	p.T431P	RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	57	82	0	110	431	DHR-1.				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			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		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)		TATCTATGTAACATTAGTTCA	0.378000													1	1	1	1	1	1	1.000000	57	83	0	112	1	9.994878e-01	14	7	0	112	5
MKI67	4288	broad.mit.edu	37	10	129901190	129901190	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:129901190C>T	ENST00000368654.3	-	13	9289	c.8914G>A	c.(8914-8916)Gga>Aga	p.G2972R	MKI67_ENST00000368653.3_Missense_Mutation_p.G2612R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	35	85	0	106	2972					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		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)				ACCACGTCTCCCACGGGTTCT	0.498000													1	1	1	1	1	1	1.000000	35	94	0	113	1	1	39	51	0	113	5
MKI67	4288	broad.mit.edu	37	10	129906274	129906274	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:129906274T>C	ENST00000368654.3	-	13	4205	c.3830A>G	c.(3829-3831)gAt>gGt	p.D1277G	MKI67_ENST00000368653.3_Missense_Mutation_p.D917G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	61	139	0	193	1277	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		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)				TCCCTCTACATCTGCTTTCCT	0.488000													1	1	1	1	1	1	1.000000	67	151	0	209	1	7.573465e-01	5	3	0	209	5
BNIP3	664	broad.mit.edu	37	10	133784368	133784368	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:133784368T>G	ENST00000540159.1	-	4	505	c.389_splice	c.e4+1	p.K130_splice	BNIP3_ENST00000368636.4_Splice_Site_p.K130_splice			Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	4	61	0	56	130					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			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		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)		ACACACTCACTTGGGGGGAAT	0.473000													0	0	1	0	0	1	0.939911	5	64	0	61	1	9.972776e-01	18	155	0	61	1
TTC40	54777	broad.mit.edu	37	10	134623991	134623991	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:134623991G>A	ENST00000368586.5	-	57	7686	c.7586C>T	c.(7585-7587)tCt>tTt	p.S2529F	TTC40_ENST00000263170.5_Missense_Mutation_p.S690F	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	24	63	0	62	690										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ACGGCCAACAGATCTAGGGGA	0.622000													1	1	1	1	1	1	1.000000	26	64	0	63	0	0	0	0	0	63	5
VENTX	27287	broad.mit.edu	37	10	135053551	135053551	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:135053551C>A	ENST00000325980.9	+	3	1029	c.518C>A	c.(517-519)tCt>tAt	p.S173Y		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	24	48	0	72	173					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		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)		TACTCAACGTCTTCTGGCCTT	0.637000													1	1	1	1	1	1	1.000000	25	52	0	80	0	0	0	0	0	80	5
ZNF511	118472	broad.mit.edu	37	10	135125331	135125331	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:135125331G>A	ENST00000359035.3	+	5	669	c.666G>A	c.(664-666)cgG>cgA	p.R222R	ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000361518.5_Silent_p.R222R|ZNF511_ENST00000368554.4_Silent_p.R157R			Q8NB15	ZN511_HUMAN	zinc finger protein 511	32	84	0	175	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		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)		GTGAGAGGCGGATCTACAGAC	0.597000													1	1	1	1	1	1	1.000000	32	94	0	192	1	1	43	80	0	192	5
RP11-108K14.8	0	broad.mit.edu	37	10	135215056	135215056	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:135215056G>A	ENST00000468317.2	+	8	805	c.550G>A	c.(550-552)Gag>Aag	p.E184K	MTG1_ENST00000317502.6_Missense_Mutation_p.E179K|MTG1_ENST00000477902.2_Missense_Mutation_p.E138K						17	34	0	59																		GGTGGGTGGCGAGCCTGGGAT	0.542000													1	1	1	1	1	1	0.999999	20	39	0	67	1	1	13	66	0	67	5
RIC8A	60626	broad.mit.edu	37	11	209947	209947	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:209947C>A	ENST00000526104.1	+	3	2017	c.673C>A	c.(673-675)Ctc>Atc	p.L225I	RIC8A_ENST00000527696.1_Missense_Mutation_p.L219I|RIC8A_ENST00000325207.5_Missense_Mutation_p.L225I			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	6	55	0	78	225						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		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)		CATGGAGATCCTCAAAGTGCT	0.582000													1	0	1	1	0	1	0.982609	7	59	0	85	1	9.994497e-01	17	125	0	85	3
DEAF1	10522	broad.mit.edu	37	11	691572	691572	+	Missense_Mutation	SNP	C	C	T	rs143376874		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:691572C>T	ENST00000382409.3	-	2	800	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	DEAF1_ENST00000338675.6_Missense_Mutation_p.V106M	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	12	25	0	37	106	Ala-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GCAGCCCCCACGTTGGCCACT	0.567000													1	1	1	1	1	1	0.999921	14	26	0	38	1	9.987644e-01	17	10	0	38	5
MUC6	4588	broad.mit.edu	37	11	1016454	1016454	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1016454G>T	ENST00000421673.2	-	31	6397	c.6347C>A	c.(6346-6348)tCt>tAt	p.S2116Y		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	27	40	0	73	2116	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		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)		AGTGGTTGCAGAACTCAAGTG	0.522000													1	1	1	1	1	1	1.000000	27	41	0	77	0	0	0	0	0	77	5
MUC2	4583	broad.mit.edu	37	11	1088722	1088722	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1088722G>T	ENST00000441003.2	+	26	3534	c.3507G>T	c.(3505-3507)aaG>aaT	p.K1169N	MUC2_ENST00000359061.5_Missense_Mutation_p.K1169N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5	7	0	26	1169						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		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)	GGTGCCCCAAGGACAGGCCCA	0.622000													1	0	1	1	1	1	0.953593	5	7	0	30	0	0	0	0	0	30	4
MUC2	4583	broad.mit.edu	37	11	1095311	1095311	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1095311G>A	ENST00000441003.2	+	32	6158	c.6131G>A	c.(6130-6132)gGc>gAc	p.G2044D	MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Missense_Mutation_p.G182D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	16	30	0	42	2076						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		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)	CCGACGCCCGGCACCAAGCCC	0.672000													1	1	1	1	1	1	0.999999	20	33	0	55	0	0	0	0	0	55	5
MUC5B	727897	broad.mit.edu	37	11	1279584	1279584	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1279584G>A	ENST00000447027.1	+	43	16647	c.16589G>A	c.(16588-16590)gGc>gAc	p.G5530D	MUC5B_ENST00000529681.1_Missense_Mutation_p.G5527D			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5	16	0	30	5527	VWFC 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		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)		TCGTACAATGGCACCTTCTAC	0.627000													1	0	1	1	1	1	0.971445	6	20	0	35	1	1	338	452	0	35	4
BRSK2	9024	broad.mit.edu	37	11	1459617	1459617	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1459617T>G	ENST00000308219.9	+	3	654	c.268T>G	c.(268-270)Tat>Gat	p.Y90D	BRSK2_ENST00000382179.1_Missense_Mutation_p.Y136D|BRSK2_ENST00000526678.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000308230.5_Missense_Mutation_p.Y90D|BRSK2_ENST00000528841.1_Missense_Mutation_p.Y90D|BRSK2_ENST00000528710.1_Missense_Mutation_p.Y30D|BRSK2_ENST00000531197.1_Missense_Mutation_p.Y90D	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	39	79	0	109	90	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		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)		AAACAAAAAATATTTGTAGGT	0.582000													1	1	1	1	1	1	1.000000	41	84	0	116	0	0	0	0	0	116	5
CTSD	1509	broad.mit.edu	37	11	1778571	1778571	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:1778571G>T	ENST00000236671.2	-	5	819	c.687C>A	c.(685-687)ttC>ttA	p.F229L	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.S100Y	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	13	29	0	48	229			F -> I (in CLN10).		cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		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)	GGTAGAAGGAGAAGATGTTCT	0.637000													1	1	1	1	0	1	0.999905	14	32	0	52	1	1	1380	1747	0	52	4
NUP98	4928	broad.mit.edu	37	11	3781836	3781836	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:3781836C>T	ENST00000324932.7	-	10	1527	c.1107G>A	c.(1105-1107)aaG>aaA	p.K369K	NUP98_ENST00000397007.4_Silent_p.K369K|NUP98_ENST00000359171.4_Silent_p.K369K|NUP98_ENST00000355260.3_Silent_p.K369K|NUP98_ENST00000397004.4_Silent_p.K369K	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	16	44	0	56	369	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			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		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)		ATGTAGTAAGCTTGTTATTGC	0.383000			T	HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11	AML								1	1	1	1	1	1	0.999987	17	48	0	62	1	9.929655e-01	17	10	0	62	5
RHOG	391	broad.mit.edu	37	11	3849145	3849145	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:3849145G>T	ENST00000351018.4	-	2	381	c.224C>A	c.(223-225)aCc>aAc	p.T75N	RHOG_ENST00000396978.1_Missense_Mutation_p.T75N|RHOG_ENST00000533217.1_Missense_Mutation_p.T75N|RHOG_ENST00000396979.1_Missense_Mutation_p.T75N	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	20	54	0	62	75					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		GAAAACGTTGGTCTGAGGGTA	0.597000													1	1	1	1	1	1	1.000000	22	62	0	64	1	1	75	132	0	64	5
TRIM68	55128	broad.mit.edu	37	11	4623410	4623410	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4623410G>A	ENST00000300747.5	-	4	1044	c.755C>T	c.(754-756)tCg>tTg	p.S252L		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	31	47	0	64	252					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			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		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)		AGGCCTCTGCGACCTCTCTTT	0.537000													1	1	1	1	1	1	1.000000	33	54	0	79	0	1.485643e-01	1	1	0	79	5
OR51E2	81285	broad.mit.edu	37	11	4703813	4703813	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4703813G>T	ENST00000396950.3	-	2	368	c.129C>A	c.(127-129)atC>atA	p.I43I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	35	67	0	60	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGAAGACCACGATGCAGTTTC	0.507000													1	1	1	1	1	1	1.000000	37	75	0	65	0	0	0	1	0	65	5
OR51S1	119692	broad.mit.edu	37	11	4869969	4869969	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4869969G>T	ENST00000322101.2	-	1	545	c.470C>A	c.(469-471)tCt>tAt	p.S157Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	55	93	0	143	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S157F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		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)		GCATCGAAAAGAAATGGCCAG	0.552000													1	1	1	1	1	1	1.000000	55	100	0	150	0	0	0	0	0	150	5
OR51G1	79324	broad.mit.edu	37	11	4945040	4945040	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:4945040G>A	ENST00000321961.2	-	1	597	c.530C>T	c.(529-531)gCt>gTt	p.A177V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	15	41	0	60	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		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)		ATAAGCATGAGCCAGCACATG	0.522000													1	1	1	1	1	1	0.999946	15	42	0	60	0	0	0	0	0	60	5
MMP26	56547	broad.mit.edu	37	11	5013298	5013298	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5013298G>A	ENST00000380390.1	+	6	916	c.700G>A	c.(700-702)Gac>Aac	p.D234N	MMP26_ENST00000300762.1_Missense_Mutation_p.D234N			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	19	27	0	43	234					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		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)		CTGGTATCACGACCCTAGAAC	0.488000													1	1	1	1	1	1	1.000000	21	30	0	52	0	0	0	0	0	52	5
OR52A5	390054	broad.mit.edu	37	11	5153355	5153355	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5153355C>T	ENST00000307388.1	-	1	517	c.518G>A	c.(517-519)cGa>cAa	p.R173Q		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	34	76	0	85	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R173Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GACTGTAGTTCGATAGTGTTT	0.448000													1	1	1	1	1	1	1.000000	36	83	0	98	0	0	0	0	0	98	5
HBG1	3047	broad.mit.edu	37	11	5269669	5269669	+	Nonsense_Mutation	SNP	C	C	A	rs34647752		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5269669C>A	ENST00000330597.3	-	3	451	c.364G>T	c.(364-366)Gaa>Taa	p.E122*		NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	27	29	0	61	122			E -> K (in Siena/Hull).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGTGAATTCTTTGCCGAAA	0.517000													0	0	1	1	0	1	1.000000	28	31	0	40	0	0	0	0	0	40	2
TRIM6-TRIM34	0	broad.mit.edu	37	11	5664849	5664849	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5664849C>A	ENST00000354852.5	+	14	2612	c.2439C>A	c.(2437-2439)ttC>ttA	p.F813L	TRIM34_ENST00000429814.2_Missense_Mutation_p.F459L|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.F459L|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_Missense_Mutation_p.F459L|TRIM34_ENST00000495668.1_3'UTR	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		38	105	0	123	813						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		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)		TTTACAAGTTCTCTAAATGTT	0.453000													1	1	1	1	1	1	1.000000	39	108	0	126	1	6.705714e-01	2	6	0	126	5
TRIM5	85363	broad.mit.edu	37	11	5699533	5699533	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5699533C>T	ENST00000305836.5	-	4	947	c.645G>A	c.(643-645)acG>acA	p.T215T	TRIM5_ENST00000396847.3_Silent_p.T215T|TRIM5_ENST00000380027.1_Silent_p.T215T|TRIM5_ENST00000396855.3_Silent_p.T215T|TRIM5_ENST00000396853.4_Silent_p.T215T|TRIM5_ENST00000380034.3_Silent_p.T215T|TRIM5_ENST00000483835.1_5'UTR			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	8	50	0	59	215					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		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)		TTTCAGAGTTCGTAAGGCTTT	0.527000													1	1	1	1	1	1	0.991125	8	50	0	61	1	9.933460e-01	8	54	0	61	5
OR52N5	390075	broad.mit.edu	37	11	5798916	5798916	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5798916A>C	ENST00000317093.2	-	1	981	c.949T>G	c.(949-951)Ttc>Gtc	p.F317V	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	7	49	0	46	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		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)		TCACCCTGGAAGAACTTTATG	0.348000													1	0	1	1	1	1	0.995321	9	57	0	49	0	0	0	0	0	49	4
OR52N1	79473	broad.mit.edu	37	11	5809140	5809140	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5809140G>A	ENST00000317078.1	-	1	906	c.907C>T	c.(907-909)Cga>Tga	p.R303*	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	54	87	0	134	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		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)		ACACTTTCTCGTACCTGCCTG	0.388000													1	1	1	1	1	1	1.000000	56	89	0	146	0	0	0	0	0	146	5
OR52E6	390078	broad.mit.edu	37	11	5862509	5862509	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:5862509G>T	ENST00000329322.5	-	1	618	c.619C>A	c.(619-621)Ctc>Atc	p.L207I	OR52E6_ENST00000379946.2_Missense_Mutation_p.L211I|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	20	44	0	63	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		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)		AATAACAAGAGAGAAATACTG	0.473000													1	1	1	1	1	1	1.000000	21	45	0	65	0	0	0	0	0	65	5
OR56A4	120793	broad.mit.edu	37	11	6023301	6023301	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:6023301T>G	ENST00000330728.4	-	1	1123	c.1078A>C	c.(1078-1080)Aac>Cac	p.N360H		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	17	32	0	33	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		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)		TTCAGCAGGTTTTGGATTCCC	0.418000													1	1	1	1	1	1	0.999998	19	37	0	46	0	0	0	0	0	46	5
FAM160A2	84067	broad.mit.edu	37	11	6244441	6244441	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:6244441A>G	ENST00000265978.4	-	4	1163	c.805T>C	c.(805-807)Tac>Cac	p.Y269H	FAM160A2_ENST00000524416.1_Missense_Mutation_p.Y269H|FAM160A2_ENST00000449352.2_Missense_Mutation_p.Y269H	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	20	168	0	172	269					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGATGAGTACAGGGCACTG	0.478000													1	1	1	1	1	1	0.999998	21	188	0	186	1	6.698218e-01	3	19	0	186	5
OR2D3	120775	broad.mit.edu	37	11	6943085	6943085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:6943085G>T	ENST00000317834.3	+	1	881	c.853G>T	c.(853-855)Gaa>Taa	p.E285*		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	30	42	0	78	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GACTACAAAAGAACTGGATAA	0.423000													1	1	1	1	1	1	1.000000	32	46	0	88	0	0	0	0	0	88	5
NLRP14	338323	broad.mit.edu	37	11	7060094	7060094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7060094G>T	ENST00000299481.4	+	2	623	c.277G>T	c.(277-279)Gaa>Taa	p.E93*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	5	37	0	39	93	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAGAGCGAAAGAAGAGATCAA	0.458000													1	0	1	1	1	1	0.968349	6	42	0	50	0	0	0	0	0	50	4
NLRP14	338323	broad.mit.edu	37	11	7063935	7063935	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7063935G>T	ENST00000299481.4	+	4	1024	c.678G>T	c.(676-678)gaG>gaT	p.E226D		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	36	74	0	102	226	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AGCTGAAAGAGAGAAGCTTTG	0.423000													1	1	1	1	1	1	1.000000	37	79	0	105	0	0	0	0	0	105	5
OLFML1	283298	broad.mit.edu	37	11	7531307	7531307	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7531307G>T	ENST00000329293.3	+	3	1491	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	OLFML1_ENST00000530135.1_Missense_Mutation_p.R366I|OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	24	43	0	73	366	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AAGAGACCAAGAAGTCACTCC	0.498000													1	1	1	1	1	1	1.000000	25	46	0	80	0	8.258498e-01	0	8	0	80	5
PPFIBP2	8495	broad.mit.edu	37	11	7663587	7663587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7663587C>T	ENST00000299492.4	+	17	1964	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	PPFIBP2_ENST00000530181.1_Nonsense_Mutation_p.R383*|PPFIBP2_ENST00000528883.1_Nonsense_Mutation_p.R414*|PPFIBP2_ENST00000533792.1_Nonsense_Mutation_p.R368*|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	11	21	0	34	526					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGCAGAGTTTCGACGAGGTGG	0.527000													1	1	1	1	1	1	0.999673	12	21	0	37	1	9.962431e-01	3	19	0	37	5
OR5P2	120065	broad.mit.edu	37	11	7817521	7817521	+	Nonstop_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7817521C>A	ENST00000329434.2	-	1	999	c.969G>T	c.(967-969)taG>taT	p.*323Y	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	33	65	0	93	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGATAGGGTTCTATGTAATAT	0.348000													1	1	1	1	1	1	1.000000	38	72	0	104	0	0	0	0	0	104	5
NLRP10	338322	broad.mit.edu	37	11	7982477	7982477	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7982477C>T	ENST00000328600.2	-	2	843	c.682G>A	c.(682-684)Ggg>Agg	p.G228R		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	17	36	0	51	228	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGATTGTCCCCGCAGCACCAG	0.522000													1	1	1	1	1	1	0.999990	17	38	0	52	0	0	0	0	0	52	5
NLRP10	338322	broad.mit.edu	37	11	7982699	7982699	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7982699C>T	ENST00000328600.2	-	2	621	c.460G>A	c.(460-462)Gct>Act	p.A154T		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	25	52	0	78	154							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAAATAGAGCCTCCACCGTG	0.572000													1	1	1	1	1	1	1.000000	26	54	0	84	0	0	0	0	0	84	5
NLRP10	338322	broad.mit.edu	37	11	7982859	7982859	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:7982859T>G	ENST00000328600.2	-	2	461	c.300A>C	c.(298-300)gaA>gaC	p.E100D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	19	45	0	71	100							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCGGTATACTTCTCTGTAAT	0.493000													1	1	1	1	1	1	0.999997	19	46	0	81	0	0	0	0	0	81	5
EIF3F	8665	broad.mit.edu	37	11	8013686	8013686	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:8013686C>A	ENST00000533626.1	+	5	1117	c.491C>A	c.(490-492)tCt>tAt	p.S164Y	EIF3F_ENST00000449102.2_Missense_Mutation_p.S15Y|EIF3F_ENST00000309828.4_Missense_Mutation_p.S164Y|EIF3F_ENST00000537635.1_Missense_Mutation_p.S179Y			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	10	15	0	16	164	MPN.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAAAAGTTTCTCCAAATGAG	0.478000													1	1	1	1	1	1	0.998508	10	19	0	19	1	1	160	205	0	19	5
SCUBE2	57758	broad.mit.edu	37	11	9069544	9069544	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:9069544C>T	ENST00000457346.2	-	15	1815	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Missense_Mutation_p.E581K|SCUBE2_ENST00000309263.3_Missense_Mutation_p.E552K			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	77	135	0	213	552						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		ATAAACATTTCCTTAGGGGTG	0.498000													1	1	1	1	1	1	1.000000	79	151	0	232	0	0	0	1	0	232	5
WEE1	7465	broad.mit.edu	37	11	9598080	9598080	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:9598080A>C	ENST00000299613.6	+	4	1006	c.251A>C	c.(250-252)gAa>gCa	p.E84A	WEE1_ENST00000450114.2_Missense_Mutation_p.E298A	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	6	53	0	44	298					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			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TATACAACAGAATTTCATGAG	0.333000													0	0	1	0	0	1	0.967457	6	58	0	47	1	8.595206e-01	7	30	0	47	1
AMPD3	272	broad.mit.edu	37	11	10521689	10521689	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:10521689C>T	ENST00000444303.2	+	10	1609	c.1137C>T	c.(1135-1137)tcC>tcT	p.S379S	AMPD3_ENST00000396554.3_Silent_p.S547S|AMPD3_ENST00000530864.1_3'UTR	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	29	70	0	91	538					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ACATGTTTTCCGACAAGAGCC	0.567000													1	1	1	1	1	1	1.000000	30	76	0	96	1	9.574245e-01	5	10	0	96	5
MRVI1	10335	broad.mit.edu	37	11	10653561	10653561	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:10653561G>A	ENST00000547195.1	-	3	604	c.104C>T	c.(103-105)tCc>tTc	p.S35F	MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.S117F|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.S126F|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.S117F|MRVI1_ENST00000527509.2_Missense_Mutation_p.S35F|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000541483.1_Missense_Mutation_p.S126F|MRVI1_ENST00000552103.1_Missense_Mutation_p.S35F|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.S117F	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	14	32	0	29	117					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGAGGCAGTGGACACCTTCAA	0.493000													1	1	1	1	1	1	0.999996	18	35	0	37	0	1.233766e-01	0	2	0	37	5
CTR9	9646	broad.mit.edu	37	11	10785209	10785209	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:10785209T>C	ENST00000361367.2	+	9	1403	c.977T>C	c.(976-978)tTt>tCt	p.F326S		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	14	29	0	28	326					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GACCAAGCTTTTCAGTACTAT	0.313000													1	1	1	1	1	1	0.999958	15	31	0	29	1	9.987878e-01	14	15	0	29	5
USP47	55031	broad.mit.edu	37	11	11941759	11941759	+	Nonsense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:11941759T>G	ENST00000339865.5	+	8	1585	c.822T>G	c.(820-822)taT>taG	p.Y274*	USP47_ENST00000399455.2_Nonsense_Mutation_p.Y362*|USP47_ENST00000539466.1_De_novo_Start_OutOfFrame|USP47_ENST00000527733.1_Nonsense_Mutation_p.Y342*	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	4	70	0	83	362					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			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CAAATCAGTATTTTTGTGAAC	0.313000													0	0	1	0	0	1	0.892089	4	79	0	101	1	4.523442e-01	4	23	0	101	1
USP47	55031	broad.mit.edu	37	11	11970032	11970032	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:11970032T>G	ENST00000339865.5	+	21	3834	c.3071T>G	c.(3070-3072)aTt>aGt	p.I1024S	USP47_ENST00000399455.2_Missense_Mutation_p.I1112S|USP47_ENST00000539466.1_De_novo_Start_InFrame|USP47_ENST00000527733.1_Missense_Mutation_p.I1092S	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	9	28	0	29	1112					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			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TAGATTACAATTAGACTGGGG	0.308000													1	1	1	1	1	1	0.999111	11	29	0	32	1	9.998350e-01	14	38	0	32	5
MICAL2	9645	broad.mit.edu	37	11	12243276	12243276	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:12243276G>A	ENST00000256194.4	+	10	1580	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	MICAL2_ENST00000342902.5_Missense_Mutation_p.G431D|MICAL2_ENST00000537344.1_Missense_Mutation_p.G431D|MICAL2_ENST00000527546.1_Missense_Mutation_p.G431D|MICAL2_ENST00000379612.3_Missense_Mutation_p.G431D	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	7	87	0	95	431						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGGAACCAGGGCACCCCTCCC	0.602000													1	0	1	1	0	1	0.981812	7	98	0	102	0	7.302113e-02	0	6	0	102	3
FAR1	84188	broad.mit.edu	37	11	13729559	13729559	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:13729559C>T	ENST00000354817.3	+	4	622	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C		NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	3	39	0	57	160					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CTACTGTAATCGCAAGCATAT	0.368000													0	0	0	0	1	1	0.893223	4	44	0	62	1	6.490109e-01	3	21	0	62	1
FAR1	84188	broad.mit.edu	37	11	13733490	13733490	+	Missense_Mutation	SNP	C	C	A	rs150190417		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:13733490C>A	ENST00000354817.3	+	7	928	c.784C>A	c.(784-786)Ctt>Att	p.L262I	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	10	30	0	31	262					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding	p.L262F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GAAAGGAATTCTTCGAACAAT	0.368000													1	1	1	1	1	1	0.999034	11	34	0	31	1	9.487812e-01	9	10	0	31	5
FAR1	84188	broad.mit.edu	37	11	13736094	13736094	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:13736094G>A	ENST00000354817.3	+	9	1138	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	FAR1_ENST00000527202.1_3'UTR	NM_032228.5	NP_115604.1	Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	6	26	0	31	332					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GAATCCTCTCGAACAGGCCTT	0.378000													1	1	1	1	1	1	0.969694	6	29	0	35	1	9.822966e-01	18	23	0	35	5
COPB1	1315	broad.mit.edu	37	11	14480092	14480092	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:14480092G>A	ENST00000249923.3	-	21	3088	c.2788C>T	c.(2788-2790)Cgt>Tgt	p.R930C	COPB1_ENST00000439561.2_Missense_Mutation_p.R930C	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	37	55	0	82	930					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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CTCTTTGCACGAATTCTTATA	0.413000													1	1	1	1	1	1	1.000000	38	56	0	86	1	1	153	264	0	86	5
PDE3B	5140	broad.mit.edu	37	11	14666087	14666087	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:14666087G>T	ENST00000282096.4	+	1	819	c.466G>T	c.(466-468)Gcg>Tcg	p.A156S	PDE3B_ENST00000534317.1_3'UTR|PDE3B_ENST00000455098.2_Missense_Mutation_p.A156S	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	9	19	0	18	156					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			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGGCTGCTGGCGCTGCCCGC	0.701000													1	1	1	1	0	1	0.996692	9	20	0	20	0	0	0	0	0	20	4
PIK3C2A	5286	broad.mit.edu	37	11	17141460	17141460	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:17141460T>C	ENST00000265970.7	-	15	2718	c.2719A>G	c.(2719-2721)Aat>Gat	p.N907D	PIK3C2A_ENST00000540361.1_Missense_Mutation_p.N527D|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	22	40	0	47	907					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			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GGAAGACAATTTGGGTGTTTG	0.353000													1	1	1	1	1	1	1.000000	23	42	0	52	1	6.858270e-01	2	4	0	52	5
ABCC8	6833	broad.mit.edu	37	11	17428261	17428261	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:17428261G>A	ENST00000302539.4	-	26	3365	c.3240C>T	c.(3238-3240)ctC>ctT	p.L1080L	ABCC8_ENST00000389817.3_Silent_p.L1079L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	10	102	0	118	1079	ABC transmembrane type-1 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			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CAGACGTGACGAGGCACAGCA	0.587000													1	1	1	1	0	1	0.997293	10	107	0	136	0	0	0	0	0	136	4
ABCC8	6833	broad.mit.edu	37	11	17448598	17448598	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:17448598G>A	ENST00000302539.4	-	16	2345	c.2220C>T	c.(2218-2220)agC>agT	p.S740S	ABCC8_ENST00000389817.3_Silent_p.S740S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	15	25	0	37	740	ABC transporter 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			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGTATTACCTGCTCCAGAAGA	0.557000													1	1	1	1	0	1	0.999983	16	28	0	40	0	0	0	0	0	40	4
TPH1	7166	broad.mit.edu	37	11	18050721	18050721	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:18050721A>C	ENST00000250018.2	-	5	1220	c.658T>G	c.(658-660)Ttt>Gtt	p.F220V	TPH1_ENST00000341556.2_Missense_Mutation_p.F220V	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	27	57	0	84	220					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CCTTTTAAAAAGTTGGAGACA	0.318000													1	1	0	1	1	1	1.000000	28	61	0	84	0	0	0	0	0	84	4
TSG101	7251	broad.mit.edu	37	11	18524068	18524068	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:18524068G>T	ENST00000536719.1	-	7	739	c.605C>A	c.(604-606)tCt>tAt	p.S202Y	TSG101_ENST00000357193.3_Missense_Mutation_p.S97Y|TSG101_ENST00000251968.3_Missense_Mutation_p.S202Y|TSG101_ENST00000543087.1_5'UTR			Q99816	TS101_HUMAN	tumor susceptibility 101	10	18	0	22	202					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			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AGGGTACTGAGAACTTGTTGT	0.433000													1	1	1	1	1	1	0.999970	15	23	0	28	1	1	100	145	0	28	5
ZDHHC13	54503	broad.mit.edu	37	11	19185898	19185898	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:19185898T>C	ENST00000446113.2	+	12	1405	c.1284T>C	c.(1282-1284)tgT>tgC	p.C428C	ZDHHC13_ENST00000399351.3_Silent_p.C298C	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	4	13	0	26	428					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GAACATTTTGTACATCATGTC	0.348000													1	0	1	1	1	1	0.973531	6	14	0	28	1	9.998852e-01	37	31	0	28	4
E2F8	79733	broad.mit.edu	37	11	19247366	19247366	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:19247366A>G	ENST00000527884.1	-	11	2171	c.1939T>C	c.(1939-1941)Tcc>Ccc	p.S647P	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.S647P|E2F8_ENST00000529188.1_5'UTR	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	77	149	0	265	647					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCCCCAGGGATGAGCACTGC	0.453000													1	1	1	1	1	1	1.000000	84	169	0	308	1	9.840930e-01	10	6	0	308	5
E2F8	79733	broad.mit.edu	37	11	19251847	19251847	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:19251847G>A	ENST00000527884.1	-	9	1531	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Silent_p.F433F	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	17	52	0	87	433					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTTACTTGGGAAGGGTGCAG	0.403000													1	1	1	1	1	1	0.999997	19	55	0	96	1	7.667665e-01	2	8	0	96	5
NAV2	89797	broad.mit.edu	37	11	20101616	20101616	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20101616G>A	ENST00000396085.1	+	25	5547	c.5186G>A	c.(5185-5187)gGc>gAc	p.G1729D	NAV2_ENST00000360655.4_Missense_Mutation_p.G1665D|NAV2_ENST00000540292.1_Missense_Mutation_p.G1716D|NAV2_ENST00000311043.8_Missense_Mutation_p.G793D|NAV2_ENST00000349880.4_Missense_Mutation_p.G1729D|NAV2_ENST00000527559.2_Missense_Mutation_p.G1714D|NAV2_ENST00000396087.3_Missense_Mutation_p.G1785D|NAV2_ENST00000533917.1_Missense_Mutation_p.G793D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	15	33	0	62	1785						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCAGGAAACGGCACTGCCCAG	0.577000													1	1	1	1	1	1	0.999953	15	35	0	67	1	8.733279e-01	5	6	0	67	5
NAV2	89797	broad.mit.edu	37	11	20124900	20124900	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20124900G>T	ENST00000396085.1	+	34	6887	c.6526G>T	c.(6526-6528)Gtg>Ttg	p.V2176L	NAV2_ENST00000360655.4_Missense_Mutation_p.V2109L|NAV2_ENST00000540292.1_Missense_Mutation_p.V2163L|NAV2_ENST00000311043.8_Missense_Mutation_p.V1237L|NAV2_ENST00000349880.4_Missense_Mutation_p.V2173L|NAV2_ENST00000527559.2_Missense_Mutation_p.V2161L|NAV2_ENST00000396087.3_Missense_Mutation_p.V2232L|NAV2_ENST00000533917.1_Missense_Mutation_p.V1237L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	31	62	0	93	2232						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTACACCACGTGAGCTCTCT	0.542000													1	1	1	1	1	1	1.000000	38	65	0	101	1	9.998354e-01	17	11	0	101	5
PRMT3	10196	broad.mit.edu	37	11	20486022	20486022	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20486022C>G	ENST00000331079.6	+	13	1494	c.1277C>G	c.(1276-1278)aCg>aGg	p.T426R	PRMT3_ENST00000437750.2_Missense_Mutation_p.T364R	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	11	28	0	31	426							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GATTGCCATACGACGTCTATC	0.318000													1	1	1	1	1	1	0.999566	12	31	0	32	1	9.802405e-01	9	12	0	32	5
NELL1	4745	broad.mit.edu	37	11	20940848	20940848	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:20940848T>C	ENST00000298925.5	+	8	964	c.811T>C	c.(811-813)Tta>Cta	p.L271L	NELL1_ENST00000357134.5_Silent_p.L243L|NELL1_ENST00000325319.5_Silent_p.L186L|NELL1_ENST00000532434.1_Silent_p.L243L			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	12	41	0	57	243	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AATAATGGATTTACAAGAGCT	0.323000													1	1	1	1	1	1	0.999466	12	45	0	70	0	0	0	0	0	70	5
GAS2	2620	broad.mit.edu	37	11	22833502	22833502	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:22833502G>T	ENST00000454584.2	+	8	1187	c.882G>T	c.(880-882)atG>atT	p.M294I	GAS2_ENST00000278187.3_Missense_Mutation_p.M294I|GAS2_ENST00000433790.1_Missense_Mutation_p.M294I	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	25	42	0	59	294					cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TAAAGGACATGAATCCAGATA	0.453000													1	1	1	1	1	1	1.000000	28	48	0	66	1	4.742868e-01	2	2	0	66	5
LUZP2	338645	broad.mit.edu	37	11	25004777	25004777	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:25004777C>T	ENST00000533227.1	+	9	732	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	LUZP2_ENST00000336930.6_Missense_Mutation_p.R235W	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	24	57	0	91	235						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAATCCAACTCGGATGTTACT	0.453000													1	1	1	1	1	1	1.000000	26	62	0	103	0	0	0	0	0	103	5
BDNF	627	broad.mit.edu	37	11	27680092	27680092	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:27680092G>A	ENST00000525528.1	-	1	1113	c.20C>T	c.(19-21)aCt>aTt	p.T7I	BDNF_ENST00000356660.4_Missense_Mutation_p.T7I|BDNF_ENST00000395978.3_Missense_Mutation_p.T7I|BDNF_ENST00000530861.1_Missense_Mutation_p.T7I|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000438929.1_Missense_Mutation_p.T89I|BDNF_ENST00000395986.2_Missense_Mutation_p.T22I|BDNF_ENST00000533246.1_Missense_Mutation_p.T7I|BDNF_ENST00000525950.1_Missense_Mutation_p.T7I|BDNF_ENST00000314915.6_Missense_Mutation_p.T15I|BDNF_ENST00000418212.1_Missense_Mutation_p.T7I|BDNF_ENST00000532997.1_Missense_Mutation_p.T7I|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000533131.1_Missense_Mutation_p.T7I|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000439476.2_Missense_Mutation_p.T7I|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000420794.1_Missense_Mutation_p.T7I|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000395981.3_Missense_Mutation_p.T7I|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000395983.3_Missense_Mutation_p.T7I|BDNF_ENST00000395980.2_Missense_Mutation_p.T7I	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	43	81	0	117	7						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						AATAACCATAGTAAGGAAAAG	0.488000													1	1	1	1	1	1	1.000000	45	84	0	129	1	9.999980e-01	23	21	0	129	5
BDNF	627	broad.mit.edu	37	11	27695654	27695654	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:27695654C>T	ENST00000438929.1	-	2	318	c.178G>A	c.(178-180)Gtt>Att	p.V60I	BDNF_ENST00000356660.4_Intron|BDNF_ENST00000395978.3_Intron|BDNF_ENST00000530861.1_Intron|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395986.2_Intron|BDNF_ENST00000533246.1_Intron|BDNF_ENST00000525950.1_Intron|BDNF_ENST00000314915.6_Intron|BDNF_ENST00000418212.1_Intron|BDNF_ENST00000532997.1_Intron|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000533131.1_Intron|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000420794.1_5'UTR|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000501663.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000395981.3_Intron|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000395983.3_Intron|BDNF_ENST00000395980.2_Intron	NM_001143810.1	NP_001137282.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	8	12	0	20	0						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						TCCACTGAAACGTGGAGGTAC	0.453000													1	0	1	1	1	1	0.994442	8	12	0	22	0	9.999142e-01	0	43	0	22	4
CCDC73	493860	broad.mit.edu	37	11	32637489	32637489	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:32637489C>T	ENST00000335185.5	-	15	1415	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	6	17	0	15	458										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGGTTACCATCTATAATTATT	0.269000													1	0	1	1	1	1	0.993175	8	19	0	16	0	0	0	0	0	16	4
DEPDC7	91614	broad.mit.edu	37	11	33054270	33054270	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:33054270A>C	ENST00000311388.3	+	7	1543	c.1167A>C	c.(1165-1167)aaA>aaC	p.K389N	DEPDC7_ENST00000241051.3_Missense_Mutation_p.K398N	NM_139160.2	NP_631899.2	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	27	45	0	47	398					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TTGACAATAAAAATTTATCCA	0.274000													1	1	1	1	1	1	1.000000	28	48	0	51	1	7.110906e-01	2	4	0	51	5
TCP11L1	55346	broad.mit.edu	37	11	33083232	33083232	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:33083232A>C	ENST00000334274.4	+	7	1332	c.932A>C	c.(931-933)aAg>aCg	p.K311T	TCP11L1_ENST00000432887.1_Missense_Mutation_p.K311T|TCP11L1_ENST00000531632.2_Missense_Mutation_p.K311T|TCP11L1_ENST00000324357.9_Missense_Mutation_p.K90T	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	8	28	0	55	311										kidney(1)|liver(2)|lung(2)|skin(1)	6						GCTTACCTGAAGCTTCTGAAG	0.527000													1	1	1	1	1	1	0.992009	8	31	0	57	0	7.390063e-01	1	11	0	57	5
FBXO3	26273	broad.mit.edu	37	11	33763477	33763477	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:33763477G>A	ENST00000526785.1	-	10	4805	c.1054C>T	c.(1054-1056)Cgc>Tgc	p.R352C	FBXO3_ENST00000530401.1_3'UTR|FBXO3_ENST00000532057.1_Missense_Mutation_p.R152C|FBXO3_ENST00000531080.1_Missense_Mutation_p.R152C|FBXO3_ENST00000265651.3_Missense_Mutation_p.R465C			Q9UK99	FBX3_HUMAN	F-box protein 3	15	44	0	56	465	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		GAGCAGCGGCGTCTGCGAATG	0.428000													1	1	1	1	1	1	0.999986	17	50	0	66	1	9.734331e-01	9	12	0	66	5
CAPRIN1	4076	broad.mit.edu	37	11	34093499	34093499	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:34093499G>T	ENST00000341394.4	+	4	520	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	CAPRIN1_ENST00000530820.1_Nonsense_Mutation_p.E111*|CAPRIN1_ENST00000532820.1_Nonsense_Mutation_p.E111*|CAPRIN1_ENST00000529307.1_Nonsense_Mutation_p.E30*|CAPRIN1_ENST00000389645.3_Nonsense_Mutation_p.E111*	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	12	8	0	26	111					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			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GTTTGCAAAAGAATTACAGAG	0.333000													1	1	1	1	1	1	0.999965	14	13	0	30	1	1	2	53	0	30	5
SLC1A2	6506	broad.mit.edu	37	11	35308373	35308373	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:35308373G>A	ENST00000278379.3	-	8	1499	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	SLC1A2_ENST00000606205.1_Missense_Mutation_p.A406V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A397V|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A397V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	23	115	0	150	406					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	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)	GGCGGCTACCGCTTCATAAAG	0.468000													1	1	1	1	1	1	1.000000	23	125	0	152	0	0	0	0	0	152	5
PAMR1	25891	broad.mit.edu	37	11	35461197	35461197	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:35461197G>A	ENST00000378880.2	-	8	1523	c.1078C>T	c.(1078-1080)Ctt>Ttt	p.L360F	PAMR1_ENST00000532848.1_Missense_Mutation_p.L320F|PAMR1_ENST00000278360.3_Missense_Mutation_p.L377F|PAMR1_ENST00000378878.3_Missense_Mutation_p.L249F	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	28	60	0	96	360					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCATCGGAAGAACTCTCCTT	0.453000													1	1	1	1	1	1	1.000000	31	64	0	109	0	9.999934e-01	1	44	0	109	5
TRAF6	7189	broad.mit.edu	37	11	36511925	36511925	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:36511925G>A	ENST00000526995.1	-	7	1278	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	TRAF6_ENST00000348124.5_Silent_p.I344I	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	31	86	0	105	344	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			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GCTGTGCTTCGATTTCAGCAA	0.408000													1	1	1	1	1	1	1.000000	33	89	0	109	0	7.952642e-01	1	9	0	109	5
RAG1	5896	broad.mit.edu	37	11	36597386	36597386	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:36597386G>T	ENST00000299440.5	+	2	2644	c.2532G>T	c.(2530-2532)atG>atT	p.M844I		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	17	57	0	66	844					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			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGAAGATGAACCTCAAAC	0.468000									Familial Hemophagocytic Lymphohistiocytosis				1	1	1	1	1	1	0.999984	17	59	0	71	0	0	0	0	0	71	5
TSPAN18	90139	broad.mit.edu	37	11	44931436	44931436	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:44931436T>C	ENST00000340160.3	+	4	483	c.244T>C	c.(244-246)Tgt>Cgt	p.C82R	TSPAN18_ENST00000520358.2_Missense_Mutation_p.C82R	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	24	37	0	77	82						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						TGAGAACAAGTGTCTGCTGCT	0.647000													1	1	1	1	1	1	1.000000	26	41	0	84	0	8.168389e-01	0	7	0	84	5
CRY2	1408	broad.mit.edu	37	11	45882464	45882464	+	Missense_Mutation	SNP	G	G	A	rs144003583	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:45882464G>A	ENST00000443527.2	+	4	618	c.596G>A	c.(595-597)cGc>cAc	p.R199H	CRY2_ENST00000473199.1_Intron|CRY2_ENST00000417225.2_Missense_Mutation_p.R117H	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	35	63	0	136	178					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			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						ATCATCAGCCGCATGGAGCTG	0.582000													1	1	1	1	1	1	1.000000	36	68	0	149	1	7.560137e-01	2	5	0	149	5
CKAP5	9793	broad.mit.edu	37	11	46799031	46799031	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:46799031T>G	ENST00000529230.1	-	23	2866	c.2820A>C	c.(2818-2820)aaA>aaC	p.K940N	CKAP5_ENST00000354558.3_Missense_Mutation_p.K940N|CKAP5_ENST00000312055.5_Missense_Mutation_p.K940N|CKAP5_ENST00000415402.1_Missense_Mutation_p.K940N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	18	27	0	35	940					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			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGCCTAAATTTTTTACATGTT	0.428000													1	1	1	1	1	1	0.999997	18	30	0	40	1	9.991518e-01	10	15	0	40	5
LRP4	4038	broad.mit.edu	37	11	46921846	46921846	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:46921846C>T	ENST00000378623.1	-	3	525	c.283G>A	c.(283-285)Gac>Aac	p.D95N		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	45	70	0	95	95	LDL-receptor class A 2.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCCTCACAGTCGTTGTCCCCG	0.527000													1	1	1	1	1	1	1.000000	53	76	0	108	0	0	0	1	0	108	5
MADD	8567	broad.mit.edu	37	11	47297547	47297547	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:47297547C>T	ENST00000342922.4	+	4	1114	c.757C>T	c.(757-759)Cga>Tga	p.R253*	MADD_ENST00000349238.3_Nonsense_Mutation_p.R253*|MADD_ENST00000402799.1_Nonsense_Mutation_p.R253*|MADD_ENST00000395336.3_Nonsense_Mutation_p.R253*|MADD_ENST00000395344.3_Nonsense_Mutation_p.R253*|MADD_ENST00000402192.2_Nonsense_Mutation_p.R253*|MADD_ENST00000311027.5_Nonsense_Mutation_p.R253*|MADD_ENST00000407859.3_Nonsense_Mutation_p.R253*|MADD_ENST00000406482.1_Nonsense_Mutation_p.R253*	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	41	54	0	85	253	DENN.				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			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGGATCTATCGATTGCTGCG	0.562000													1	1	1	1	1	1	1.000000	43	58	0	88	0	7.029964e-01	0	5	0	88	5
MYBPC3	4607	broad.mit.edu	37	11	47364690	47364690	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:47364690G>T	ENST00000399249.2	-	14	1287	c.1233C>A	c.(1231-1233)atC>atA	p.I411I	MYBPC3_ENST00000545968.1_Silent_p.I411I|MYBPC3_ENST00000256993.4_Silent_p.I410I			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	8	17	0	24	410	Ig-like C2-type 2.				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			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGACTCAAAGATGTACCTGG	0.642000													1	1	1	1	0	1	0.993042	8	20	0	25	0	0	0	0	0	25	4
FNBP4	23360	broad.mit.edu	37	11	47767735	47767735	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:47767735T>A	ENST00000263773.5	-	7	1130	c.1118A>T	c.(1117-1119)gAa>gTa	p.E373V	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	44	96	0	114	373										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAACATAATTTCCTGTGGCTT	0.388000													1	1	1	1	1	1	1.000000	47	104	0	120	1	9.975190e-01	5	19	0	120	5
OR4A47	403253	broad.mit.edu	37	11	48510546	48510546	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:48510546G>T	ENST00000446524.1	+	1	278	c.202G>T	c.(202-204)Gat>Tat	p.D68Y		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	20	30	0	65	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ATCATTTATAGATATCATTTA	0.423000													1	1	1	1	1	1	0.999999	20	30	0	66	0	0	0	0	0	66	5
OR4A16	81327	broad.mit.edu	37	11	55111641	55111641	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55111641C>A	ENST00000314721.2	+	1	1015	c.965C>A	c.(964-966)tCt>tAt	p.S322Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	6	13	0	34	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATTCCTAGTTCTAAGGCAACA	0.338000													1	0	1	1	1	1	0.973531	6	14	0	39	0	0	0	0	0	39	4
OR4C16	219428	broad.mit.edu	37	11	55339799	55339799	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55339799T>G	ENST00000314634.3	+	1	196	c.196T>G	c.(196-198)Tta>Gta	p.L66V		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	11	115	0	124	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTACTTATCCTTATCTGATAC	0.413000													1	1	1	1	0	1	0.998566	11	122	0	128	0	0	0	0	0	128	4
OR4C6	219432	broad.mit.edu	37	11	55433247	55433247	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55433247G>A	ENST00000314259.3	+	1	634	c.605G>A	c.(604-606)gGg>gAg	p.G202E		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	37	64	0	92	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCAACAGTGGGATGATGTGT	0.468000													1	1	1	1	1	1	1.000000	39	65	0	95	0	0	0	0	0	95	5
OR5D13	390142	broad.mit.edu	37	11	55541030	55541030	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55541030C>T	ENST00000361760.1	+	1	117	c.117C>T	c.(115-117)gtC>gtT	p.V39V		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	38	66	0	104	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCTACACAGTCACTGTAGTGG	0.403000													1	1	1	1	1	1	1.000000	38	68	0	105	0	0	0	0	0	105	5
OR5D14	219436	broad.mit.edu	37	11	55563549	55563549	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55563549C>A	ENST00000335605.1	+	1	518	c.518C>A	c.(517-519)cCt>cAt	p.P173H		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	51	109	0	169	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTCTCTGGACCTAATGTAATC	0.507000													1	1	1	1	1	1	1.000000	55	120	0	185	0	0	0	0	0	185	5
OR5D14	219436	broad.mit.edu	37	11	55563587	55563587	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55563587C>T	ENST00000335605.1	+	1	556	c.556C>T	c.(556-558)Ctc>Ttc	p.L186F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	60	92	0	172	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTATACTGCTCTCATCTCTGT	0.468000													1	1	1	1	1	1	1.000000	64	97	0	185	0	0	0	0	0	185	5
OR5D18	219438	broad.mit.edu	37	11	55587551	55587551	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55587551C>A	ENST00000333976.4	+	1	466	c.446C>A	c.(445-447)tCc>tAc	p.S149Y		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	58	113	0	161	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GTTGTGGGATCCTATGCCTGG	0.473000													1	1	1	1	1	1	1.000000	63	122	0	168	0	0	0	0	0	168	5
OR5W2	390148	broad.mit.edu	37	11	55681139	55681139	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55681139T>G	ENST00000344514.1	-	1	919	c.920A>C	c.(919-921)aAa>aCa	p.K307T		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	8	19	0	28	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						aaataaaattttatttttCAG	0.303000													1	1	1	1	1	1	0.996692	9	20	0	28	0	0	0	0	0	28	5
OR10AG1	282770	broad.mit.edu	37	11	55735436	55735436	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55735436G>T	ENST00000312345.2	-	1	554	c.504C>A	c.(502-504)ttC>ttA	p.F168L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	11	31	0	37	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TGTCACAAAAGAAATGATTAA	0.403000													1	1	1	1	0	1	0.999533	12	34	0	41	0	0	0	0	0	41	4
OR10AG1	282770	broad.mit.edu	37	11	55735728	55735728	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55735728C>A	ENST00000312345.2	-	1	262	c.212G>T	c.(211-213)aGa>aTa	p.R71I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	27	57	0	95	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CATGAGCATTCTTGGGATAAT	0.368000													1	1	1	1	1	1	1.000000	27	60	0	99	0	0	0	0	0	99	5
OR5F1	338674	broad.mit.edu	37	11	55761503	55761503	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55761503G>T	ENST00000278409.1	-	1	598	c.599C>A	c.(598-600)tCt>tAt	p.S200Y		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	28	64	1	94	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGCCAAAATAGAACTTATGCT	0.453000													1	0	1	1	1	1	0.999999	30	66	1	97	0	0	0	0	1	97	4
OR8I2	120586	broad.mit.edu	37	11	55861062	55861062	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55861062C>A	ENST00000302124.2	+	1	310	c.279C>A	c.(277-279)tcC>tcA	p.S93S	OR8I2_ENST00000560768.1_Silent_p.S93S			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	53	67	0	122	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GATCCATCTCCTTTGTTGGCT	0.388000													1	1	1	1	1	1	1.000000	59	72	0	129	0	0	0	0	0	129	5
OR8K5	219453	broad.mit.edu	37	11	55926970	55926970	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:55926970G>T	ENST00000313447.1	-	1	823	c.824C>A	c.(823-825)tCt>tAt	p.S275Y		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	13	22	0	47	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTAAAACACAGAAGCCATTTT	0.393000													1	1	1	1	1	1	0.999849	13	22	0	50	0	0	0	0	0	50	5
OR5T3	390154	broad.mit.edu	37	11	56020105	56020105	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56020105C>T	ENST00000303059.3	+	1	430	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	43	91	0	134	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L144I(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AGAATGTTTTCTCTTGGCTGC	0.403000													1	1	1	1	1	1	1.000000	49	97	0	145	0	0	0	0	0	145	5
OR5T3	390154	broad.mit.edu	37	11	56020296	56020296	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56020296C>A	ENST00000303059.3	+	1	621	c.621C>A	c.(619-621)gtC>gtA	p.V207V		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	70	122	0	173	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTAGGCATGTCTTTTGTGATA	0.408000													1	1	1	1	1	1	1.000000	76	133	0	186	0	0	0	0	0	186	5
OR5T1	390155	broad.mit.edu	37	11	56043431	56043431	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56043431T>G	ENST00000313033.2	+	1	403	c.317T>G	c.(316-318)tTt>tGt	p.F106C		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	55	53	0	112	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TCTATTTCATTTCTTGGATGT	0.368000													1	1	1	1	1	1	1.000000	59	55	0	115	0	0	0	0	0	115	5
OR5R1	219479	broad.mit.edu	37	11	56185045	56185045	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56185045T>C	ENST00000312253.1	-	1	663	c.664A>G	c.(664-666)Att>Gtt	p.I222V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	33	51	0	110	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATAGCGGCAATAATAAAGATG	0.453000													1	1	1	1	1	1	1.000000	39	54	0	116	0	0	0	0	0	116	5
OR5M8	219484	broad.mit.edu	37	11	56258050	56258050	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56258050G>T	ENST00000327216.2	-	1	821	c.797C>A	c.(796-798)tCt>tAt	p.S266Y		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	6	41	0	44	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S266C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CTGTTCAACAGATTCCTTTGA	0.378000													1	0	1	1	1	1	0.991336	8	44	0	48	0	0	0	0	0	48	4
OR5AP2	338675	broad.mit.edu	37	11	56409495	56409495	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56409495G>A	ENST00000544374.1	-	1	452	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F	OR5AP2_ENST00000302981.1_Missense_Mutation_p.L141F			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	18	42	0	94	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CCAGACACGAGAACTGGGTAG	0.488000													1	0	1	1	1	1	0.999997	19	46	0	99	0	0	0	0	0	99	4
LRRC55	219527	broad.mit.edu	37	11	56949434	56949434	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:56949434C>A	ENST00000497933.1	+	1	214	c.67C>A	c.(67-69)Ctc>Atc	p.L23I		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	21	31	0	51	0						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GTCACAGACTCTCGATTCCAT	0.602000													1	1	1	1	1	1	1.000000	21	32	0	55	0	0	0	0	0	55	5
APLNR	187	broad.mit.edu	37	11	57003380	57003380	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57003380C>T	ENST00000606794.1	-	1	1295	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	21	51	0	69	367						integral to plasma membrane	G-protein coupled receptor activity	p.E367K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ATGGATTTCTCGTGCATCTGT	0.647000													1	1	1	1	1	1	1.000000	22	56	0	79	0	0	0	1	0	79	5
TNKS1BP1	85456	broad.mit.edu	37	11	57077055	57077055	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57077055C>A	ENST00000532437.1	-	5	3441	c.3130G>T	c.(3130-3132)Gac>Tac	p.D1044Y	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.D1044Y			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	43	69	0	132	1044	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGCTCTGGTCTCTCTGCCCG	0.652000													1	1	1	1	1	1	1.000000	49	79	0	154	1	1	62	71	0	154	5
TMX2	51075	broad.mit.edu	37	11	57505465	57505465	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57505465C>T	ENST00000278422.4	+	3	343	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	40	61	0	91	111					cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						CTTGGATATTCGCATGGGCCT	0.393000													1	1	1	1	1	1	1.000000	46	67	0	104	1	1	16	41	0	104	5
TMX2	51075	broad.mit.edu	37	11	57506209	57506209	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57506209C>A	ENST00000278422.4	+	5	527	c.515C>A	c.(514-516)tCa>tAa	p.S172*	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Nonsense_Mutation_p.S134*	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	48	96	0	121	172	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GACTGCCAATCATTTGCCCCT	0.483000													1	1	1	1	1	1	1.000000	53	110	0	135	1	9.999981e-01	3	43	0	135	5
CTNND1	1500	broad.mit.edu	37	11	57573508	57573508	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57573508G>A	ENST00000524630.1	+	10	2389		c.e10+1		CTNND1_ENST00000399050.4_Splice_Site|CTNND1_ENST00000529919.1_Splice_Site|CTNND1_ENST00000531014.1_Splice_Site|CTNND1_ENST00000361391.6_Splice_Site|CTNND1_ENST00000528232.1_Splice_Site|CTNND1_ENST00000426142.2_Splice_Site|CTNND1_ENST00000525902.1_Splice_Site|CTNND1_ENST00000529873.1_Splice_Site|CTNND1_ENST00000532844.1_Splice_Site|CTNND1_ENST00000530748.1_Splice_Site|CTNND1_ENST00000415361.2_Splice_Site|CTNND1_ENST00000526357.1_Splice_Site|CTNND1_ENST00000399039.4_Splice_Site|CTNND1_ENST00000360682.6_Splice_Site|CTNND1_ENST00000532649.1_Splice_Site|CTNND1_ENST00000530094.1_Splice_Site|CTNND1_ENST00000526938.1_Splice_Site|CTNND1_ENST00000533667.1_Splice_Site|CTNND1_ENST00000532787.1_Splice_Site|CTNND1_ENST00000358694.6_Splice_Site|CTNND1_ENST00000361796.4_Splice_Site|CTNND1_ENST00000532245.1_Splice_Site|CTNND1_ENST00000361332.4_Splice_Site|CTNND1_ENST00000527467.1_Splice_Site|CTNND1_ENST00000532463.1_Splice_Site|CTNND1_ENST00000529986.1_Splice_Site|CTNND1_ENST00000534579.1_Splice_Site|CTNND1_ENST00000528621.1_Splice_Site|CTNND1_ENST00000526772.1_Splice_Site|CTNND1_ENST00000529526.1_Splice_Site|CTNND1_ENST00000428599.2_Splice_Site			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	5	11	0	13						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(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGGGCAAAGGTGAGTCTTGG	0.483000													0	0	1	1	1	1	0.949096	5	11	0	13	0	9.990323e-01	0	47	0	13	3
OR1S2	219958	broad.mit.edu	37	11	57971122	57971122	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57971122G>T	ENST00000302592.6	-	1	531	c.532C>A	c.(532-534)Caa>Aaa	p.Q178K		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	20	235	0	226	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AAGAGCAATTGAATGAGCAGA	0.463000													1	1	1	1	0	1	1.000000	23	261	0	242	0	0	0	0	0	242	4
OR1S2	219958	broad.mit.edu	37	11	57971527	57971527	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57971527G>T	ENST00000302592.6	-	1	126	c.127C>A	c.(127-129)Ctt>Att	p.L43I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	44	76	0	94	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CTCAGGAAAAGCACAAAGAGG	0.453000													1	1	1	1	1	1	1.000000	44	82	0	103	0	0	0	0	0	103	5
OR1S1	219959	broad.mit.edu	37	11	57982521	57982521	+	Missense_Mutation	SNP	G	G	A	rs148202922		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57982521G>A	ENST00000309433.6	+	1	305	c.305G>A	c.(304-306)aGt>aAt	p.S102N		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	65	105	0	142	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CAAACCAAGAGTCAATCCATC	0.428000													1	1	1	1	1	1	1.000000	67	109	0	150	0	0	0	0	0	150	5
OR1S1	219959	broad.mit.edu	37	11	57982748	57982748	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:57982748C>A	ENST00000309433.6	+	1	532	c.532C>A	c.(532-534)Caa>Aaa	p.Q178K		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	27	63	0	130	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCTGCTCATTCAATTGCTCTT	0.448000													1	1	1	1	1	1	1.000000	28	67	0	114	0	0	0	0	0	114	5
OR5B3	441608	broad.mit.edu	37	11	58170438	58170438	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58170438A>C	ENST00000309403.2	-	1	444	c.445T>G	c.(445-447)Tgt>Ggt	p.C149G		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	41	72	0	118	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGAAACCACAGAGGTAGGAG	0.478000													1	1	1	1	1	1	1.000000	42	76	0	120	0	0	0	0	0	120	5
OR5B3	441608	broad.mit.edu	37	11	58170849	58170849	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58170849G>T	ENST00000309403.2	-	1	33	c.34C>A	c.(34-36)Ctt>Att	p.L12I		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	18	74	0	85	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTCCTAGAAGAATGAATTGT	0.388000													1	1	1	1	1	1	0.999998	20	81	0	95	0	0	0	0	0	95	5
ZFP91	80829	broad.mit.edu	37	11	58384868	58384868	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58384868G>A	ENST00000316059.6	+	11	1573	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.A468T	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	20	25	0	44	468					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAATGCAGGCGCCCTCATCAC	0.537000													1	1	1	1	1	1	1.000000	21	27	0	47	1	9.999992e-01	17	26	0	47	5
GLYAT	10249	broad.mit.edu	37	11	58478199	58478199	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58478199G>A	ENST00000344743.3	-	5	493	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F	GLYAT_ENST00000278400.3_Missense_Mutation_p.L118F|GLYAT_ENST00000529732.1_Missense_Mutation_p.L118F	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	35	63	0	83	118					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	ATGGCTGCAAGATTTTGTATA	0.408000													1	1	1	1	1	1	1.000000	38	65	0	94	0	0	0	0	0	94	5
DTX4	23220	broad.mit.edu	37	11	58949740	58949740	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:58949740G>A	ENST00000227451.3	+	2	844	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	DTX4_ENST00000532982.1_Missense_Mutation_p.R141Q	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	14	31	0	50	247					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GGCACCATTCGAGGCCCACTG	0.652000													1	1	1	1	1	1	0.999903	14	33	0	52	1	9.490884e-01	6	9	0	52	5
PATL1	219988	broad.mit.edu	37	11	59421459	59421459	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59421459C>A	ENST00000300146.9	-	9	1202	c.1118G>T	c.(1117-1119)aGa>aTa	p.R373I		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	32	45	0	89	373	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TACTTACCTTCTATTCTGTTG	0.388000													1	1	1	1	1	1	1.000000	34	47	0	95	1	1	30	35	0	95	5
OR10V1	390201	broad.mit.edu	37	11	59480843	59480843	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59480843G>T	ENST00000307552.2	-	1	494	c.476C>A	c.(475-477)cCa>cAa	p.P159Q		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	5	53	0	46	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AATGGTGAGTGGCAGTGACAA	0.532000													1	0	1	1	0	1	0.940233	5	57	0	47	0	0	0	0	0	47	3
TCN1	6947	broad.mit.edu	37	11	59620703	59620703	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59620703G>A	ENST00000257264.3	-	8	1317	c.1213C>T	c.(1213-1215)Ctg>Ttg	p.L405L		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	74	133	0	224	405					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTCCACTCAGAAGTTCCCAG	0.522000													1	1	1	1	1	1	1.000000	78	145	0	246	1	9.959740e-01	9	10	0	246	5
PLAC1L	0	broad.mit.edu	37	11	59811081	59811081	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:59811081G>A	ENST00000278855.2	+	2	389	c.204G>A	c.(202-204)gaG>gaA	p.E68E	PLAC1L_ENST00000532905.1_Silent_p.E37E	NM_173801.3	NP_776162.2	Q86WS3	PLACL_HUMAN		6	31	0	29	68						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						ATGTATATGAGTTTATATATC	0.368000													1	0	1	1	1	1	0.991879	8	33	0	32	0	0	0	0	0	32	4
MS4A12	54860	broad.mit.edu	37	11	60268548	60268548	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:60268548A>G	ENST00000016913.4	+	3	364	c.307A>G	c.(307-309)Att>Gtt	p.I103V	MS4A12_ENST00000537076.1_Intron	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	48	124	0	175	103						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ATTGATGCACATTGGTTTTGG	0.373000													1	1	1	1	1	1	1.000000	52	139	0	200	0	0	0	0	0	200	5
MS4A15	219995	broad.mit.edu	37	11	60531322	60531322	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:60531322T>G	ENST00000405633.3	+	2	195	c.116T>G	c.(115-117)aTt>aGt	p.I39S	MS4A15_ENST00000528170.1_Missense_Mutation_p.I39S|MS4A15_ENST00000337911.4_Intron	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	51	95	0	163	39						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CCTCCAGGGATTATGCAGTTT	0.602000													1	1	1	1	1	1	1.000000	54	100	0	170	0	0	0	0	0	170	5
ZP1	22917	broad.mit.edu	37	11	60635066	60635066	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:60635066A>G	ENST00000278853.5	+	1	32	c.32A>G	c.(31-33)tAc>tGc	p.Y11C		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	11	29	0	53	11					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCTGGGGTTACCCTGTGGCC	0.672000													1	1	1	1	1	1	0.999957	15	32	0	58	0	0	0	0	0	58	5
VWCE	220001	broad.mit.edu	37	11	61026361	61026361	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:61026361G>T	ENST00000335613.5	-	20	3040	c.2654C>A	c.(2653-2655)tCc>tAc	p.S885Y	VWCE_ENST00000535710.1_Missense_Mutation_p.S350Y	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	20	27	0	49	885						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AGGCCACCTGGACACTATCTG	0.647000													1	1	1	1	1	1	1.000000	21	27	0	52	1	1.984314e-01	2	0	0	52	5
DDB1	1642	broad.mit.edu	37	11	61081881	61081881	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:61081881C>A	ENST00000301764.7	-	13	1885	c.1488G>T	c.(1486-1488)aaG>aaT	p.K496N	DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	13	176	0	181	496	Interaction with CDT1.|Interaction with 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			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CACTGATGTTCTTGGCCTGAG	0.532000								Nucleotide excision repair (NER)					1	1	1	1	0	1	0.999584	13	200	0	201	1	9.986568e-01	15	162	0	201	4
AHNAK	79026	broad.mit.edu	37	11	62288113	62288113	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62288113C>A	ENST00000378024.4	-	5	14050	c.13776G>T	c.(13774-13776)aaG>aaT	p.K4592N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	36	53	0	76	4592					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATAGAGATCTTCGGTGCCT	0.498000													1	1	1	1	1	1	1.000000	38	58	0	83	1	1	23	35	0	83	5
AHNAK	79026	broad.mit.edu	37	11	62290081	62290081	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62290081T>C	ENST00000378024.4	-	5	12082	c.11808A>G	c.(11806-11808)aaA>aaG	p.K3936K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	137	212	0	317	3936					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTTGGGCATTTTTATCTTAG	0.507000													1	1	1	1	1	1	1.000000	144	228	0	342	1	9.999998e-01	19	22	0	342	5
AHNAK	79026	broad.mit.edu	37	11	62290790	62290790	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62290790A>C	ENST00000378024.4	-	5	11373	c.11099T>G	c.(11098-11100)cTa>cGa	p.L3700R	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	97	174	0	186	3700					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGGCCTTTTAGATCACCTTC	0.483000													1	1	1	1	1	1	1.000000	104	182	0	199	1	9.999995e-01	22	20	0	199	5
MTA2	9219	broad.mit.edu	37	11	62364120	62364120	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62364120G>A	ENST00000278823.2	-	9	1260	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	MTA2_ENST00000524902.1_Missense_Mutation_p.R118C|MTA2_ENST00000527204.1_Missense_Mutation_p.R118C	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	31	53	0	80	291	SANT.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AAATCCTGGCGAATATCATTG	0.542000													1	1	1	1	1	1	1.000000	32	57	0	85	1	1	95	124	0	85	5
EML3	256364	broad.mit.edu	37	11	62374545	62374545	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62374545A>C	ENST00000394773.2	-	12	1696	c.1389T>G	c.(1387-1389)ccT>ccG	p.P463P	EML3_ENST00000494176.2_Silent_p.P435P|EML3_ENST00000529309.1_Silent_p.P463P|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000531557.1_Silent_p.P246P|EML3_ENST00000278845.4_Silent_p.P464P	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	25	58	0	113	463						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACACAAAGCAAGGGATAAACT	0.527000													1	0	1	1	1	1	1.000000	28	63	0	121	1	9.999997e-01	31	34	0	121	4
SLC22A25	387601	broad.mit.edu	37	11	62996981	62996981	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:62996981G>A	ENST00000306494.6	-	1	143	c.144C>T	c.(142-144)cgC>cgT	p.R48R	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	42	55	0	72	48					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GAACCCAGCAGCGATGATCAA	0.463000													1	1	1	1	1	1	1.000000	47	59	0	77	0	0	0	0	0	77	5
NRXN2	9379	broad.mit.edu	37	11	64374680	64374680	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:64374680C>A	ENST00000265459.6	-	23	5588	c.5127G>T	c.(5125-5127)gaG>gaT	p.E1709D	NRXN2_ENST00000377551.1_Missense_Mutation_p.E1709D|NRXN2_ENST00000409571.1_Missense_Mutation_p.E1702D|NRXN2_ENST00000301894.2_Missense_Mutation_p.E663D|NRXN2_ENST00000377559.3_Missense_Mutation_p.E1639D	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	11	25	0	30	1709					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGACATAATACTCCTTGTCTT	0.662000													1	1	1	1	1	1	0.999604	12	27	0	36	0	9.964429e-01	1	26	0	36	5
PYGM	5837	broad.mit.edu	37	11	64527344	64527344	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:64527344C>A	ENST00000164139.3	-	1	425	c.27G>T	c.(25-27)gaG>gaT	p.E9D	PYGM_ENST00000377432.3_Missense_Mutation_p.E9D	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	41	90	0	119	9					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCTTTCTTTTCTCTTGGTCTG	0.597000													1	1	1	1	1	1	1.000000	45	100	0	122	0	0	0	1	0	122	5
VPS51	738	broad.mit.edu	37	11	64876790	64876790	+	Silent	SNP	C	C	T	rs147241001		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:64876790C>T	ENST00000279281.3	+	6	1574	c.1482C>T	c.(1480-1482)atC>atT	p.I494I	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)	23	35	0	55																		AGGGCCTCATCGTGGGCTTCG	0.617000													1	1	1	1	1	1	1.000000	23	37	0	59	1	1	89	100	0	59	5
DPF2	5977	broad.mit.edu	37	11	65116351	65116351	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:65116351C>T	ENST00000528416.1	+	10	1181	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	DPF2_ENST00000415073.2_Missense_Mutation_p.R166C|DPF2_ENST00000252268.4_Missense_Mutation_p.R364C	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	23	40	0	51	350					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGACTGCGATCGTGGCTACCA	0.488000													1	1	1	1	1	1	1.000000	25	45	0	60	1	1	54	53	0	60	5
PELI3	246330	broad.mit.edu	37	11	66239872	66239872	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:66239872G>A	ENST00000349459.6	+	4	599	c.315G>A	c.(313-315)tcG>tcA	p.S105S	PELI3_ENST00000531856.1_Intron|PELI3_ENST00000524466.1_Silent_p.S129S|PELI3_ENST00000320740.7_Silent_p.S129S	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	31	64	0	92	129						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						ACAGCATCTCGTATACACTGT	0.532000													1	1	1	1	1	1	1.000000	34	76	0	111	1	4.951234e-01	3	2	0	111	5
DPP3	10072	broad.mit.edu	37	11	66259175	66259175	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:66259175C>T	ENST00000532677.1	+	9	1394	c.993C>T	c.(991-993)atC>atT	p.I331I	DPP3_ENST00000541961.1_Silent_p.I312I|DPP3_ENST00000531863.1_Silent_p.I332I|DPP3_ENST00000530165.1_Silent_p.I282I|DPP3_ENST00000453114.1_Silent_p.I312I|DPP3_ENST00000360510.2_Silent_p.I312I	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	65	128	0	224	312					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CCAGTTACATCGGGTTCATCG	0.622000													1	1	1	1	1	1	1.000000	70	139	0	245	1	1	47	53	0	245	5
ADRBK1	156	broad.mit.edu	37	11	67049829	67049829	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67049829G>A	ENST00000308595.5	+	12	1335	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	ADRBK1_ENST00000527176.1_Intron|ADRBK1_ENST00000526285.1_Missense_Mutation_p.A349T	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	39	54	0	90	349	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			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GAAGCCCCATGCCAGCGTGTG	0.652000													1	1	1	1	1	1	1.000000	40	56	0	91	1	1	89	84	0	91	5
GPR152	390212	broad.mit.edu	37	11	67219701	67219701	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67219701G>A	ENST00000312457.2	-	1	499	c.495C>T	c.(493-495)ccC>ccT	p.P165P		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	14	96	0	104	165						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGACCAGCCAGGGCACGCTGA	0.677000													1	1	1	1	1	1	0.999954	16	105	0	119	0	0	0	0	0	119	5
TBX10	347853	broad.mit.edu	37	11	67400485	67400485	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67400485C>T	ENST00000335385.3	-	5	726	c.639G>A	c.(637-639)gaG>gaA	p.E213E		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	82	140	1	226	213					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						ACTTGAAGTTCTCCTGGGCAT	0.572000													1	0	1	1	1	1	1.000000	89	142	1	240	0	0	0	0	1	240	4
SUV420H1	51111	broad.mit.edu	37	11	67926511	67926511	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:67926511A>C	ENST00000304363.4	-	11	1655	c.1302T>G	c.(1300-1302)aaT>aaG	p.N434K		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	20	36	0	64	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTACCCTGGAATTATTTATAT	0.373000													1	1	1	1	1	1	0.999999	20	37	0	70	1	9.782516e-01	5	10	0	70	5
LRP5	4041	broad.mit.edu	37	11	68171142	68171142	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:68171142A>C	ENST00000294304.7	+	8	1882	c.1776A>C	c.(1774-1776)aaA>aaC	p.K592N		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	7	69	0	62	592	Beta-propeller 2.				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			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGGGCTCAAAGCTGTGAATG	0.627000													1	0	1	1	1	1	0.982279	7	71	0	69	1	9.177269e-01	7	41	0	69	4
PPP6R3	55291	broad.mit.edu	37	11	68369357	68369357	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:68369357C>A	ENST00000393799.2	+	21	2486	c.2219C>A	c.(2218-2220)tCt>tAt	p.S740Y	PPP6R3_ENST00000534534.1_Missense_Mutation_p.S508Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S705Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.S740Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.S711Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.S740Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S660Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.S694Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S734Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S660Y			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	54	90	0	114	740					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGGAGTAATTCTCCAGTGGAA	0.493000													1	1	1	1	1	1	1.000000	61	101	0	134	1	1	36	55	0	134	5
IGHMBP2	3508	broad.mit.edu	37	11	68696697	68696697	+	Silent	SNP	C	C	T	rs137852670		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:68696697C>T	ENST00000255078.3	+	8	1218	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	46	76	0	136	369	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			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAGCTACTTCGACGTGGTGG	0.642000													1	1	1	1	1	1	1.000000	50	77	0	150	1	9.920155e-01	7	8	0	150	5
PPFIA1	8500	broad.mit.edu	37	11	70170513	70170513	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:70170513C>T	ENST00000253925.7	+	3	485	c.270C>T	c.(268-270)ttC>ttT	p.F90F	PPFIA1_ENST00000389547.3_Silent_p.F90F|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	48	70	0	93	90					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TCTAGGAGTTCGCAGCACTTA	0.403000													1	1	1	1	0	1	1.000000	49	75	0	94	1	9.982236e-01	8	11	0	94	4
PPFIA1	8500	broad.mit.edu	37	11	70171616	70171616	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:70171616G>A	ENST00000253925.7	+	5	757	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	PPFIA1_ENST00000389547.3_Missense_Mutation_p.R181Q|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	30	72	0	103	181					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTGAGAGAGCGATTACGAGTA	0.353000													1	1	1	1	1	1	1.000000	34	78	0	116	1	9.922274e-01	10	11	0	116	5
NADSYN1	55191	broad.mit.edu	37	11	71174492	71174492	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:71174492G>A	ENST00000319023.2	+	4	466	c.278G>A	c.(277-279)cGa>cAa	p.R93Q		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	7	36	0	41	93	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			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTAATGCACCGAAACGTCCGC	0.602000													1	0	1	1	1	1	0.983188	7	45	0	46	1	9.585329e-01	20	19	0	46	4
NADSYN1	55191	broad.mit.edu	37	11	71193031	71193031	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:71193031C>T	ENST00000319023.2	+	13	1298	c.1110C>T	c.(1108-1110)taC>taT	p.Y370Y	NADSYN1_ENST00000530055.1_5'UTR|NADSYN1_ENST00000526039.2_Intron|NADSYN1_ENST00000539574.1_Silent_p.Y110Y	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	3	16	0	20	370	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			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCTCATCTACTCCATGTGCT	0.622000													0	0	0	0	1	1	0.813008	3	19	0	21	1	9.960054e-01	22	79	0	21	1
PDE2A	5138	broad.mit.edu	37	11	72289284	72289284	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:72289284T>G	ENST00000334456.5	-	30	2853	c.2608A>C	c.(2608-2610)Atc>Ctc	p.I870L	PDE2A_ENST00000544570.1_Missense_Mutation_p.I863L|PDE2A_ENST00000444035.2_Missense_Mutation_p.I861L|PDE2A_ENST00000418754.2_Missense_Mutation_p.I755L|PDE2A_ENST00000540345.1_Missense_Mutation_p.I861L|PDE2A_ENST00000376450.3_Missense_Mutation_p.I614L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	19	50	0	66	870	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			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CACTTGTAGATGGGCATTGCA	0.557000													1	1	1	1	1	1	1.000000	22	53	0	69	0	0	0	1	0	69	5
ATG16L2	89849	broad.mit.edu	37	11	72537800	72537800	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:72537800C>T	ENST00000321297.5	+	13	1436	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	37	62	0	106	433					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			TTCAAGCTAACGAGGCACCAG	0.612000													1	1	1	1	1	1	1.000000	38	65	0	112	1	9.997468e-01	11	16	0	112	5
UCP3	7352	broad.mit.edu	37	11	73717235	73717235	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:73717235A>G	ENST00000314032.4	-	3	868	c.316T>C	c.(316-318)Tac>Cac	p.Y106H	UCP3_ENST00000426995.2_Missense_Mutation_p.Y106H|UCP3_ENST00000348534.4_Missense_Mutation_p.Y106H	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	6	31	0	44	106					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TTGGGGGTGTACACCTGCTTG	0.612000													1	0	1	1	1	1	0.983838	7	35	0	49	0	0	0	0	0	49	4
CHRDL2	25884	broad.mit.edu	37	11	74421962	74421962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:74421962C>A	ENST00000376332.3	-	4	860	c.364G>T	c.(364-366)Gag>Tag	p.E122*	CHRDL2_ENST00000263671.5_Nonsense_Mutation_p.E122*|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	10	16	0	35	122	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTGAAGATCTCTCCGTGTTGG	0.612000													1	1	1	1	1	1	0.998664	10	16	0	36	0	9.973867e-01	0	23	0	36	5
SLCO2B1	11309	broad.mit.edu	37	11	74880412	74880412	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:74880412G>A	ENST00000289575.5	+	5	1038	c.643G>A	c.(643-645)Gat>Aat	p.D215N	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.D99N|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.D71N|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.D193N	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	20	44	0	71	215				D -> V (in Ref. 6).	sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CTCCTACATCGATGACTTTGC	0.597000													1	1	1	1	1	1	0.999999	20	50	0	78	0	3.350636e-01	1	3	0	78	5
MOGAT2	80168	broad.mit.edu	37	11	75439940	75439940	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:75439940G>T	ENST00000526712.1	+	4	1283	c.510G>T	c.(508-510)aaG>aaT	p.K170N	MOGAT2_ENST00000198801.5_Missense_Mutation_p.K252N			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	38	65	0	98	252					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GGTTGCAGAAGATCATGGGCA	0.522000													1	1	1	1	1	1	1.000000	43	69	0	109	0	0	0	0	0	109	5
MYO7A	4647	broad.mit.edu	37	11	76910822	76910822	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:76910822G>T	ENST00000409709.3	+	35	5083	c.4811G>T	c.(4810-4812)aGa>aTa	p.R1604I	MYO7A_ENST00000409619.2_Missense_Mutation_p.R1555I|MYO7A_ENST00000458637.2_Missense_Mutation_p.R1566I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	6	20	0	35	1604	SH3.				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			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTCCGGAAGAGATCTAAGTAT	0.577000													1	1	1	1	1	1	0.985191	7	23	0	38	1	8.742953e-01	5	10	0	38	5
GDPD4	220032	broad.mit.edu	37	11	76990353	76990353	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:76990353A>G	ENST00000315938.4	-	3	395	c.145T>C	c.(145-147)Ttg>Ctg	p.L49L	GDPD4_ENST00000376217.2_Silent_p.L49L|GDPD4_ENST00000527489.1_Intron	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	14	23	0	35	49					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TTACTCACCAACAGCAATGAA	0.438000													1	1	1	1	1	1	0.999968	15	24	0	38	0	0	0	0	0	38	5
CLNS1A	1207	broad.mit.edu	37	11	77336824	77336824	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:77336824T>C	ENST00000525428.1	-	3	392	c.302A>G	c.(301-303)gAc>gGc	p.D101G	CLNS1A_ENST00000532069.1_Intron|CLNS1A_ENST00000525064.1_Missense_Mutation_p.D101G|CLNS1A_ENST00000263309.3_Intron|CLNS1A_ENST00000528364.1_Missense_Mutation_p.D101G	NM_001293.2	NP_001284.1	P54105	ICLN_HUMAN	chloride channel, nucleotide-sensitive, 1A	4	20	0	13	101					blood circulation|cell volume homeostasis|chloride transport|ncRNA metabolic process|spliceosomal snRNP assembly	cytoskeleton|cytosol|nucleus|plasma membrane	protein binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5	all_cancers(14;5.43e-17)|all_epithelial(13;1.78e-19)		Epithelial(5;1.02e-48)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			ATCATCACTGTCTTCCTCTTC	0.318000													0	0	0	0	1	1	0.943558	5	24	0	14	1	9.999941e-01	22	229	0	14	1
INTS4	92105	broad.mit.edu	37	11	77612494	77612494	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:77612494A>C	ENST00000534064.1	-	18	2235	c.2201T>G	c.(2200-2202)cTt>cGt	p.L734R	INTS4_ENST00000535943.1_Missense_Mutation_p.L109R|AAMDC_ENST00000532481.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	30	123	0	187	734					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	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)			TGTTACTATAAGTTGCAAAGC	0.423000													1	1	1	1	1	1	1.000000	34	136	0	218	1	9.998212e-01	12	45	0	218	5
INTS4	92105	broad.mit.edu	37	11	77692505	77692505	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:77692505T>G	ENST00000534064.1	-	3	398	c.364_splice	c.e3+1	p.K122_splice	INTS4_ENST00000529807.1_Splice_Site_p.K122_splice	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	9	12	0	24	122					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	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)			TGCAACTTACTTTCATTCTGC	0.328000													1	1	1	1	1	1	0.999471	11	14	0	26	1	9.935371e-01	8	8	0	26	5
TENM4	26011	broad.mit.edu	37	11	78383338	78383338	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:78383338G>A	ENST00000278550.7	-	31	5995	c.5533C>T	c.(5533-5535)Cgc>Tgc	p.R1845C		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4	15	64	0	78																		CGTGTTACGCGATCAAAGTCC	0.517000													1	1	1	1	1	1	0.999962	16	72	0	88	1	1.674244e-01	2	2	0	88	5
PRCP	5547	broad.mit.edu	37	11	82564263	82564263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82564263G>A	ENST00000313010.3	-	3	561	c.367C>T	c.(367-369)Cga>Tga	p.R123*	PRCP_ENST00000393399.2_Nonsense_Mutation_p.R144*|PRCP_ENST00000535099.1_Nonsense_Mutation_p.R18*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	8	26	0	59	123					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CCATAGTATCGATGTTCAGCA	0.363000													1	0	1	1	1	1	0.992080	8	30	0	70	1	9.997372e-01	4	70	0	70	4
RAB30	27314	broad.mit.edu	37	11	82698747	82698747	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82698747G>A	ENST00000533486.1	-	5	527	c.243C>T	c.(241-243)agC>agT	p.S81S	RAB30_ENST00000532548.1_Silent_p.S81S|RAB30_ENST00000260056.2_Silent_p.S81S|RAB30_ENST00000527633.1_Silent_p.S81S|RAB30_ENST00000525117.1_Silent_p.S53S|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000534141.1_Silent_p.S81S	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	11	78	0	98	81					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGGCATTGGCGCTTCGGTAGT	0.483000													1	1	1	1	1	1	0.999329	12	82	0	110	0	3.479571e-01	1	5	0	110	5
PCF11	51585	broad.mit.edu	37	11	82872456	82872456	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82872456A>G	ENST00000298281.4	+	2	732	c.280A>G	c.(280-282)Aaa>Gaa	p.K94E		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	7	17	0	12	94	CID.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TGCCTTTACTAAAAATCTAGT	0.313000													0	1	1	1	1	1	0.986135	7	18	0	12	1	2.200328e-01	2	1	0	12	4
PCF11	51585	broad.mit.edu	37	11	82878235	82878235	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82878235A>C	ENST00000298281.4	+	6	2338	c.1886A>C	c.(1885-1887)aAa>aCa	p.K629T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	46	74	0	107	629					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCAAGCACTAAAGGAATTTTA	0.408000													1	1	1	1	1	1	1.000000	52	79	0	115	1	9.998970e-01	10	16	0	115	5
ANKRD42	338699	broad.mit.edu	37	11	82909623	82909623	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:82909623A>C	ENST00000393389.3	+	2	1093	c.161A>C	c.(160-162)gAa>gCa	p.E54A	ANKRD42_ENST00000526731.1_Missense_Mutation_p.E54A|ANKRD42_ENST00000533342.1_Missense_Mutation_p.E54A|ANKRD42_ENST00000531895.1_Missense_Mutation_p.E54A|ANKRD42_ENST00000393392.2_Intron|ANKRD42_ENST00000260047.6_Missense_Mutation_p.E54A|ANKRD42_ENST00000528722.1_5'UTR			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	6	20	0	35	46										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGCATTAATGAACTTGATGTT	0.413000													1	0	1	1	1	1	0.971445	6	20	0	36	0	6.625172e-01	1	7	0	36	4
DLG2	1740	broad.mit.edu	37	11	84245767	84245767	+	Missense_Mutation	SNP	C	C	T	rs150043290	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:84245767C>T	ENST00000398309.2	-	2	520	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	DLG2_ENST00000543673.1_Missense_Mutation_p.R122Q|DLG2_ENST00000532653.1_Missense_Mutation_p.R17Q|DLG2_ENST00000376104.2_Missense_Mutation_p.R122Q|DLG2_ENST00000524982.1_Missense_Mutation_p.R17Q	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	38	71	0	121	17						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ATCTTGATATCGATACTTCTA	0.388000													1	1	1	1	1	1	1.000000	38	72	0	131	0	0	0	0	0	131	5
CCDC89	220388	broad.mit.edu	37	11	85396557	85396557	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:85396557G>A	ENST00000316398.3	-	1	763	c.617C>T	c.(616-618)gCg>gTg	p.A206V		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	42	117	0	194	206						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTCTCGCGCGCCTGTGCCTG	0.617000													1	1	1	1	1	1	1.000000	47	126	0	221	1	6.093240e-01	3	4	0	221	5
SYTL2	54843	broad.mit.edu	37	11	85407247	85407247	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:85407247G>T	ENST00000359152.5	-	11	5175	c.5176C>A	c.(5176-5178)Ctt>Att	p.L1726I	SYTL2_ENST00000533892.1_Missense_Mutation_p.L282I|SYTL2_ENST00000527523.1_Missense_Mutation_p.L848I|SYTL2_ENST00000354566.3_Missense_Mutation_p.L1218I|SYTL2_ENST00000529581.1_Missense_Mutation_p.L322I|SYTL2_ENST00000316356.4_Missense_Mutation_p.L881I|SYTL2_ENST00000389960.4_Missense_Mutation_p.L856I|SYTL2_ENST00000528231.1_Missense_Mutation_p.L880I|SYTL2_ENST00000389958.3_Missense_Mutation_p.L311I|SYTL2_ENST00000525702.1_Missense_Mutation_p.L322I|SYTL2_ENST00000524452.1_Missense_Mutation_p.L856I|SYTL2_ENST00000525423.1_Missense_Mutation_p.L1202I	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	28	53	0	85	880					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			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		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)		CCAATACGAAGACCTCCCAAA	0.403000													1	1	1	1	1	1	1.000000	32	58	0	90	1	9.965043e-01	5	15	0	90	5
RAB38	23682	broad.mit.edu	37	11	87847193	87847193	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:87847193G>A	ENST00000243662.6	-	3	681	c.599C>T	c.(598-600)aCc>aTc	p.T200I	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	39	66	0	130	200					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGCAACCTTGGTTGATGTGAG	0.493000													1	1	1	1	1	1	1.000000	40	67	0	133	1	9.999997e-01	20	28	0	133	5
NAALAD2	10003	broad.mit.edu	37	11	89868834	89868834	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:89868834C>A	ENST00000534061.1	+	2	420	c.190C>A	c.(190-192)Ctt>Att	p.L64I	NAALAD2_ENST00000525171.1_Missense_Mutation_p.L64I|NAALAD2_ENST00000375944.3_Missense_Mutation_p.L64I|NAALAD2_ENST00000321955.4_Missense_Mutation_p.L64I	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	13	17	0	38	64					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAAATCATTTCTTCGGTAAGT	0.343000													1	1	1	1	1	1	0.999883	13	17	0	41	0	0	0	0	0	41	5
CHORDC1	26973	broad.mit.edu	37	11	89944398	89944398	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:89944398C>A	ENST00000320585.6	-	5	827	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	CHORDC1_ENST00000457199.2_Nonsense_Mutation_p.E121*	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	22	43	0	58	140	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding	p.E140*(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTATTTTCTTCATTCCCTGAT	0.303000													1	1	1	1	1	1	1.000000	25	46	0	64	0	9.920998e-01	1	17	0	64	5
FAT3	120114	broad.mit.edu	37	11	92085936	92085936	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92085936A>C	ENST00000298047.6	+	1	675	c.658A>C	c.(658-660)Aat>Cat	p.N220H	FAT3_ENST00000525166.1_Missense_Mutation_p.N70H|FAT3_ENST00000409404.2_Missense_Mutation_p.N220H|FAT3_ENST00000541502.1_Missense_Mutation_p.N220H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	32	59	0	88	220	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGTCGATTAAATTATGATGA	0.383000										TCGA Ovarian(4;0.039)			1	1	1	1	1	1	1.000000	34	62	0	91	0	0	0	0	0	91	5
FAT3	120114	broad.mit.edu	37	11	92087781	92087781	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92087781A>C	ENST00000298047.6	+	1	2520	c.2503A>C	c.(2503-2505)Agt>Cgt	p.S835R	FAT3_ENST00000525166.1_Missense_Mutation_p.S685R|FAT3_ENST00000409404.2_Missense_Mutation_p.S835R|FAT3_ENST00000541502.1_Missense_Mutation_p.S835R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	20	17	0	57	835	Cadherin 8.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATTCAAGACAGTTACTCAGT	0.398000										TCGA Ovarian(4;0.039)			1	1	1	1	1	1	1.000000	21	18	0	58	0	0	0	0	0	58	5
FAT3	120114	broad.mit.edu	37	11	92498214	92498214	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92498214C>A	ENST00000298047.6	+	5	4171	c.4154C>A	c.(4153-4155)tCt>tAt	p.S1385Y	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Missense_Mutation_p.S1235Y|FAT3_ENST00000409404.2_Missense_Mutation_p.S1385Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	10	20	0	30	1385	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGGTGGTGTCTGTGCAGCCA	0.438000										TCGA Ovarian(4;0.039)			1	1	1	1	1	1	0.998374	10	22	0	32	0	0	0	0	0	32	5
FAT3	120114	broad.mit.edu	37	11	92532534	92532534	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92532534G>T	ENST00000298047.6	+	9	6372	c.6355G>T	c.(6355-6357)Gtg>Ttg	p.V2119L	FAT3_ENST00000525166.1_Missense_Mutation_p.V1969L|FAT3_ENST00000409404.2_Missense_Mutation_p.V2119L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	6	14	0	44	2119	Cadherin 19.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAATGGAGAAGTGACCTATGT	0.443000										TCGA Ovarian(4;0.039)			1	0	1	1	1	1	0.973097	6	15	0	45	0	0	0	0	0	45	4
SLC36A4	120103	broad.mit.edu	37	11	92901248	92901248	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:92901248C>T	ENST00000326402.4	-	7	760	c.630G>A	c.(628-630)agG>agA	p.R210R	SLC36A4_ENST00000529184.1_Silent_p.R75R	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	17	35	0	50	210					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCATATATATCCTTAGGTCAA	0.348000													1	1	1	1	1	1	0.999999	20	36	0	51	0	4.571116e-01	0	4	0	51	5
CCDC67	159989	broad.mit.edu	37	11	93104221	93104221	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:93104221C>G	ENST00000298050.3	+	7	664	c.564C>G	c.(562-564)taC>taG	p.Y188*		NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	10	11	0	13	188										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CACAAAGTTACCAAACTCAAC	0.323000													0	1	1	1	1	1	0.998992	10	11	0	15	0	0	1	0	0	15	4
C11orf54	28970	broad.mit.edu	37	11	93487178	93487178	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:93487178T>G	ENST00000528288.1	+	5	540	c.305T>G	c.(304-306)tTt>tGt	p.F102C	C11orf54_ENST00000331239.4_Missense_Mutation_p.F102C|C11orf54_ENST00000354421.3_Missense_Mutation_p.F102C|C11orf54_ENST00000528099.1_Missense_Mutation_p.F102C|C11orf54_ENST00000540113.1_Missense_Mutation_p.F83C	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	8	99	0	120	102						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCAGGTCCATTTCAGACTCTC	0.338000													0	0	1	0	0	1	0.990224	8	105	0	129	1	8.231805e-01	7	37	0	129	1
HEPHL1	341208	broad.mit.edu	37	11	93796740	93796740	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:93796740A>G	ENST00000315765.9	+	3	490	c.482A>G	c.(481-483)aAc>aGc	p.N161S		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	17	34	0	49	161	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CCTGGGAAAAACTACACCTAC	0.458000													0	0	1	1	1	1	0.999991	17	35	0	50	0	0	0	0	0	50	3
MRE11A	4361	broad.mit.edu	37	11	94178996	94178996	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94178996C>A	ENST00000323929.3	-	16	2069	c.1847G>T	c.(1846-1848)aGa>aTa	p.R616I	MRE11A_ENST00000407439.3_Missense_Mutation_p.R619I|MRE11A_ENST00000323977.3_Intron|MRE11A_ENST00000393241.4_Missense_Mutation_p.R615I	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	30	52	0	80	616					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(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				AGACATATTTCTAGATGCTGA	0.383000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				1	1	1	1	1	1	1.000000	34	58	0	98	1	9.999288e-01	10	21	0	98	5
MRE11A	4361	broad.mit.edu	37	11	94224044	94224044	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94224044C>T	ENST00000323929.3	-	3	330	c.108G>A	c.(106-108)acG>acA	p.T36T	MRE11A_ENST00000536144.1_5'UTR|MRE11A_ENST00000540013.1_Silent_p.T36T|MRE11A_ENST00000407439.3_Silent_p.T39T|MRE11A_ENST00000323977.3_Silent_p.T36T|MRE11A_ENST00000393241.4_Silent_p.T36T	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	19	51	0	57	36					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(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GTGTTACAAACGTATCATTTC	0.328000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				1	1	1	1	1	1	1.000000	22	55	0	62	1	9.788199e-01	7	12	0	62	5
ANKRD49	54851	broad.mit.edu	37	11	94229989	94229989	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94229989C>A	ENST00000544253.1	+	2	248	c.130C>A	c.(130-132)Ctt>Att	p.L44I	ANKRD49_ENST00000302755.4_Missense_Mutation_p.L44I|ANKRD49_ENST00000544612.1_Missense_Mutation_p.L44I|ANKRD49_ENST00000540349.1_Missense_Mutation_p.L44I			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	12	105	0	130	44					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACTCAAAGTCTTTGGGTAGG	0.373000													1	1	1	1	1	1	0.999277	12	110	0	147	1	5.606040e-01	4	14	0	147	5
PIWIL4	143689	broad.mit.edu	37	11	94310616	94310616	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94310616C>T	ENST00000299001.6	+	4	682	c.471C>T	c.(469-471)ttC>ttT	p.F157F	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	15	21	0	52	157					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			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAAAAGCATTCGACGGTGCCA	0.343000													1	1	1	1	1	1	0.999986	16	24	0	56	0	0	0	1	0	56	5
PIWIL4	143689	broad.mit.edu	37	11	94318621	94318621	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94318621A>C	ENST00000299001.6	+	6	857	c.646A>C	c.(646-648)Aag>Cag	p.K216Q	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	33	75	0	89	216					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			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GATCCTCAAAAAGTTGTCCAT	0.333000													1	1	1	1	1	1	1.000000	39	84	0	104	0	0	0	1	0	104	5
PIWIL4	143689	broad.mit.edu	37	11	94322371	94322371	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94322371G>T	ENST00000299001.6	+	8	1210	c.999G>T	c.(997-999)gaG>gaT	p.E333D	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	20	45	0	57	333	PAZ.				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			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGGCACCGAGATCACCTATG	0.423000													1	1	1	1	1	1	0.999999	21	48	0	65	0	2.318638e-01	0	3	0	65	5
KDM4D	55693	broad.mit.edu	37	11	94732052	94732052	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:94732052C>T	ENST00000335080.5	+	3	2348	c.1516C>T	c.(1516-1518)Cca>Tca	p.P506S	KDM4D_ENST00000536741.1_Missense_Mutation_p.P506S	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	19	24	0	60	506					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			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACCACTGAGCCCAGGGCTCCA	0.617000													1	1	1	1	1	1	1.000000	23	26	0	62	1	4.567574e-01	2	1	0	62	5
MTMR2	8898	broad.mit.edu	37	11	95578263	95578263	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:95578263C>T	ENST00000393223.3	-	13	1686	c.1024G>A	c.(1024-1026)Gta>Ata	p.V342I	MTMR2_ENST00000346299.5_Missense_Mutation_p.V414I|MTMR2_ENST00000352297.7_Missense_Mutation_p.V342I|MTMR2_ENST00000409459.1_Missense_Mutation_p.V342I	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	21	29	0	44	414	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAATGCACTACCACAGACGTC	0.448000													1	1	1	1	1	1	1.000000	24	32	0	47	1	9.999999e-01	24	28	0	47	5
MAML2	84441	broad.mit.edu	37	11	95826576	95826576	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:95826576G>A	ENST00000524717.1	-	2	1903	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	26	57	0	76	207					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCCCCAACACGAATTCTTTTG	0.458000			T	MECT1, CRTC3	salivary gland mucoepidermoid								1	1	1	1	1	1	1.000000	28	60	0	82	0	3.879599e-01	1	3	0	82	5
JRKL	8690	broad.mit.edu	37	11	96123832	96123832	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:96123832C>T	ENST00000458427.1	+	1	675	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	JRKL_ENST00000332349.4_Missense_Mutation_p.R7C|JRKL_ENST00000546177.1_Intron	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	14	34	0	80	7	HTH psq-type.				central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GAAACGGAAGCGTGTGGTGTT	0.428000													1	1	1	1	1	1	0.999953	15	35	0	91	1	7.399462e-01	2	6	0	91	5
PGR	5241	broad.mit.edu	37	11	100922293	100922293	+	Missense_Mutation	SNP	C	C	T	rs149186732	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:100922293C>T	ENST00000325455.5	-	5	3672	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	PGR_ENST00000534013.1_Missense_Mutation_p.R146Q|PGR_ENST00000263463.5_Missense_Mutation_p.R638Q	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	17	28	0	30	740	Steroid-binding.				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	p.R740Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		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)	ATGTAAGTTTCGAAAACCTAC	0.328000													1	1	1	1	1	1	0.999999	20	31	0	36	0	0	0	1	0	36	5
TRPC6	7225	broad.mit.edu	37	11	101362288	101362288	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:101362288T>G	ENST00000344327.3	-	3	1551	c.1128_splice	c.e3+1	p.K376_splice	TRPC6_ENST00000532133.1_Splice_Site_p.K376_splice|TRPC6_ENST00000360497.4_Splice_Site_p.K376_splice|TRPC6_ENST00000348423.4_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	50	80	0	127	376					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGACCTTACTTTTTTTACTTC	0.403000													1	1	1	1	1	1	1.000000	57	89	0	143	0	0	0	0	0	143	5
KIAA1377	57562	broad.mit.edu	37	11	101833270	101833270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:101833270G>T	ENST00000263468.8	+	6	1774	c.1504G>T	c.(1504-1506)Gaa>Taa	p.E502*	KIAA1377_ENST00000537689.1_Nonsense_Mutation_p.E303*	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	10	10	0	29	502							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AGATGGTAAAGAAGAAGAGAT	0.323000													1	1	1	1	1	1	0.999615	11	10	0	31	0	0	0	0	0	31	5
MMP1	4312	broad.mit.edu	37	11	102665933	102665933	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:102665933G>A	ENST00000315274.6	-	6	938	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	6	94	0	79	291	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	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)		ACTTCTCCCCGAATCGTAGTT	0.398000													1	0	1	1	0	1	0.981728	7	105	0	89	1	9.466301e-01	3	77	0	89	3
MMP13	4322	broad.mit.edu	37	11	102815028	102815028	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:102815028G>A	ENST00000260302.3	-	10	1411	c.1383C>T	c.(1381-1383)cgC>cgT	p.R461R		NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	18	159	0	188	461	Hemopexin-like 4.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		CTGGCATGACGCGAACAATAC	0.358000													1	1	1	1	1	1	0.999999	22	176	0	226	0	0	0	1	0	226	5
DYNC2H1	79659	broad.mit.edu	37	11	103027492	103027492	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:103027492G>A	ENST00000375735.2	+	26	4264	c.4120G>A	c.(4120-4122)Gat>Aat	p.D1374N	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D1374N|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	19	35	0	49	1374	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			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGTTGATGAAGATTTTAGGTC	0.338000													1	1	1	1	1	1	1.000000	22	39	0	57	0	0	0	0	0	57	5
DDI1	414301	broad.mit.edu	37	11	103908701	103908701	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:103908701T>A	ENST00000302259.3	+	1	1394	c.1151T>A	c.(1150-1152)aTt>aAt	p.I384N	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	16	17	0	41	384					proteolysis		aspartic-type endopeptidase activity	p.I384S(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		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)		GACAAGGAAATTACACATTCA	0.458000													1	1	1	1	1	1	0.999999	18	18	0	45	0	0	0	0	0	45	5
KBTBD3	143879	broad.mit.edu	37	11	105924041	105924041	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:105924041G>T	ENST00000526793.1	-	3	1534	c.1375C>A	c.(1375-1377)Ctt>Att	p.L459I	KBTBD3_ENST00000534815.1_Missense_Mutation_p.L380I|KBTBD3_ENST00000531837.1_Missense_Mutation_p.L459I	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	8	23	0	25	455										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		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)		TCTGATCCAAGAACATAAATT	0.373000													1	1	1	1	1	1	0.992400	8	26	0	25	0	6.756757e-02	0	2	0	25	5
ATM	472	broad.mit.edu	37	11	108165729	108165729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:108165729C>T	ENST00000278616.4	+	32	5237	c.4852C>T	c.(4852-4854)Cga>Tga	p.R1618*	ATM_ENST00000452508.2_Nonsense_Mutation_p.R1618*	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	24	45	0	75	1618					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.E1612_Q1620>*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		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)		AAAGGATCTTCGAAGACAACT	0.358000			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	1	1	1	1	1	1.000000	24	47	0	84	0	1.203258e-01	0	2	0	84	5
ATM	472	broad.mit.edu	37	11	108235812	108235812	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:108235812C>A	ENST00000278616.4	+	62	9239	c.8854C>A	c.(8854-8856)Ctt>Att	p.L2952I	ATM_ENST00000452508.2_Missense_Mutation_p.L2952I|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	13	22	0	39	2952	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.L2952F(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		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)		TGTTTAGGTCCTTCTATATGA	0.368000			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	1	1	1	1	1	0.999934	14	22	0	44	1	9.799325e-01	9	5	0	44	5
EXPH5	23086	broad.mit.edu	37	11	108380999	108380999	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:108380999G>T	ENST00000265843.4	-	6	5345	c.5235C>A	c.(5233-5235)ttC>ttA	p.F1745L	EXPH5_ENST00000428840.1_Missense_Mutation_p.F1669L|EXPH5_ENST00000443411.1_Missense_Mutation_p.F1557L|EXPH5_ENST00000525344.1_Missense_Mutation_p.F1738L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	38	78	0	87	1745					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		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)		GATTGTCAGAGAATTCTGCTT	0.488000													1	1	1	1	1	1	1.000000	38	81	0	93	0	1.056767e-01	0	2	0	93	5
RDX	5962	broad.mit.edu	37	11	110134819	110134819	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:110134819T>C	ENST00000343115.4	-	5	652	c.333A>G	c.(331-333)ttA>ttG	p.L111L	RDX_ENST00000530301.1_Silent_p.L79L|RDX_ENST00000528498.1_Silent_p.L111L|RDX_ENST00000528900.1_Intron|RDX_ENST00000405097.1_Silent_p.L111L|RDX_ENST00000544551.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	22	25	0	37	111	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		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)		TCTCATCATTTAAGATGGCTT	0.373000													1	1	1	1	1	1	1.000000	25	29	0	42	1	9.999990e-01	15	22	0	42	5
SIK2	23235	broad.mit.edu	37	11	111583042	111583042	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:111583042A>G	ENST00000304987.3	+	9	1382	c.1209A>G	c.(1207-1209)gcA>gcG	p.A403A		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	20	35	0	73	403					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CATTTCCAGCATCTGGCTGTC	0.557000													1	1	1	1	1	1	1.000000	22	41	0	75	1	8.673500e-01	5	4	0	75	5
CRYAB	1410	broad.mit.edu	37	11	111779674	111779674	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:111779674G>T	ENST00000533475.1	-	4	791	c.342C>A	c.(340-342)atC>atA	p.I114I	CRYAB_ENST00000531198.1_Silent_p.I114I|CRYAB_ENST00000227251.3_Silent_p.I114I|CRYAB_ENST00000527950.1_Silent_p.I114I|CRYAB_ENST00000526180.1_Silent_p.I114I|CRYAB_ENST00000525823.1_Silent_p.I47I|CRYAB_ENST00000533280.1_Silent_p.I47I	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	11	34	0	51	114					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		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)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		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)		ACTCCCTGGAGATGAAACCAT	0.473000													1	1	1	1	1	1	0.999034	11	34	0	58	1	9.990337e-01	6	39	0	58	5
NCAM1	4684	broad.mit.edu	37	11	113102483	113102483	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113102483C>A	ENST00000316851.7	+	9	1176	c.1176C>A	c.(1174-1176)ggC>ggA	p.G392G	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G401G|NCAM1_ENST00000533760.1_Silent_p.G274G	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	11	109	0	140	402	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		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)		ACACCATCGGCCAGGACTCCC	0.577000													1	1	1	1	0	1	0.999255	12	126	0	165	0	0	0	1	0	165	4
NCAM1	4684	broad.mit.edu	37	11	113102991	113102991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113102991C>A	ENST00000316851.7	+	10	1310	c.1310C>A	c.(1309-1311)tCa>tAa	p.S437*	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Nonsense_Mutation_p.S446*|NCAM1_ENST00000533760.1_Nonsense_Mutation_p.S319*	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	15	42	0	57	447	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		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)		GCCACGATCTCATGGTTTCGG	0.552000													1	1	1	1	1	1	0.999972	16	47	0	62	0	7.132867e-02	0	2	0	62	5
DRD2	1813	broad.mit.edu	37	11	113285165	113285165	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113285165C>T	ENST00000362072.3	-	6	1086	c.742G>A	c.(742-744)Gag>Aag	p.E248K	DRD2_ENST00000538967.1_Missense_Mutation_p.E248K|DRD2_ENST00000542968.1_Missense_Mutation_p.E248K|DRD2_ENST00000544518.1_Missense_Mutation_p.E247K|DRD2_ENST00000355319.2_Missense_Mutation_p.E248K|DRD2_ENST00000346454.3_Intron|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	58	103	0	176	248	Interaction with PPP1R9B (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			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		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)	TTCATGTCCTCGGGGTGAGTA	0.567000													1	1	1	1	1	1	1.000000	60	110	0	194	0	0	0	1	0	194	5
ZW10	9183	broad.mit.edu	37	11	113614583	113614583	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113614583C>A	ENST00000200135.3	-	10	1596	c.1452G>T	c.(1450-1452)aaG>aaT	p.K484N		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	30	63	0	87	484					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)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		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)		CCATTAATTTCTTCACAGACT	0.418000													1	1	1	1	1	1	1.000000	35	66	0	92	1	9.999552e-01	10	25	0	92	5
HTR3B	9177	broad.mit.edu	37	11	113803116	113803116	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:113803116G>T	ENST00000260191.2	+	5	731	c.474G>T	c.(472-474)gaG>gaT	p.E158D	HTR3B_ENST00000537778.1_Missense_Mutation_p.E147D	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	28	34	0	83	158					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		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)		GCAGTTTAGAGACATATGCTT	0.438000													1	1	1	1	1	1	1.000000	30	35	0	85	0	0	0	0	0	85	5
ZNF259	8882	broad.mit.edu	37	11	116649650	116649650	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:116649650C>T	ENST00000227322.3	-	14	1430	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	17	26	0	48	457					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	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;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		GCTACCGTTGCGGAGCCAGGC	0.532000													1	1	1	1	1	1	0.999999	19	29	0	53	1	1	26	78	0	53	5
TMPRSS13	84000	broad.mit.edu	37	11	117785214	117785214	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:117785214C>T	ENST00000528626.1	-	3	540	c.467G>A	c.(466-468)gGc>gAc	p.G156D	TMPRSS13_ENST00000430170.2_Missense_Mutation_p.G191D|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G191D|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.G191D|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G191D	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	112	206	0	377	186					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	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)		CCCTGTGTGGCCCTGCCAGAA	0.587000													1	1	1	1	1	1	1.000000	118	221	0	421	0	2.795610e-01	1	2	0	421	5
AMICA1	120425	broad.mit.edu	37	11	118068800	118068800	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118068800C>A	ENST00000292067.7	-	7	1329	c.888G>T	c.(886-888)gtG>gtT	p.V296V	AMICA1_ENST00000526620.1_Silent_p.V267V|AMICA1_ENST00000356289.5_Silent_p.V306V|AMICA1_ENST00000533261.1_Silent_p.V295V	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	29	55	0	79	306					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	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)		CTGTAGAATTCACTGAACTGC	0.443000											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	31	60	0	86	0	4.262038e-01	0	4	0	86	5
KMT2A	4297	broad.mit.edu	37	11	118343387	118343387	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118343387G>A	ENST00000534358.1	+	3	1536	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	KMT2A_ENST00000389506.5_Missense_Mutation_p.D505N|KMT2A_ENST00000354520.4_Missense_Mutation_p.D505N	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A	8	154	0	160																		GGAGCGGAGCGATACCCCTGA	0.493000													1	0	1	1	0	1	0.989894	8	164	0	172	0	0	0	1	0	172	3
TMEM25	84866	broad.mit.edu	37	11	118404598	118404598	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118404598T>G	ENST00000524725.1	+	4	1112	c.700T>G	c.(700-702)Tca>Gca	p.S234A	TMEM25_ENST00000411589.2_Missense_Mutation_p.S234A|TMEM25_ENST00000354064.7_Missense_Mutation_p.S130A|TMEM25_ENST00000544878.1_Missense_Mutation_p.S181A|TMEM25_ENST00000359862.4_Missense_Mutation_p.S234A|TMEM25_ENST00000442938.2_Missense_Mutation_p.S234A|TMEM25_ENST00000533102.1_Missense_Mutation_p.S278A|TMEM25_ENST00000313236.5_Missense_Mutation_p.S278A|TMEM25_ENST00000354284.4_Missense_Mutation_p.S278A			Q86YD3	TMM25_HUMAN	transmembrane protein 25	11	130	0	135	278						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		ATCTCTGATATCAAGGTAACT	0.577000													1	1	1	1	0	1	0.999243	12	138	0	145	1	9.509342e-01	3	59	0	145	4
VPS11	55823	broad.mit.edu	37	11	118952233	118952233	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:118952233A>C	ENST00000300793.6	+	17	2765	c.2723A>C	c.(2722-2724)aAa>aCa	p.K908T	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	6	104	0	123	909					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	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)		GTTTTCAACAAATTGACTCTG	0.532000													0	0	1	0	0	1	0.966225	6	114	0	133	1	9.181136e-01	10	78	0	133	1
POU2F3	25833	broad.mit.edu	37	11	120139927	120139927	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120139927C>T	ENST00000260264.4	+	3	146	c.112C>T	c.(112-114)Cga>Tga	p.R38*	POU2F3_ENST00000543440.2_Nonsense_Mutation_p.R36*	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	5	22	0	28	36					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		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)		AGGAAATGATCGAAATGGCCT	0.378000													1	0	1	1	1	1	0.942955	5	27	0	31	0	0	0	0	0	31	4
ARHGEF12	23365	broad.mit.edu	37	11	120278467	120278467	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120278467G>A	ENST00000397843.2	+	3	243	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R26Q|ARHGEF12_ENST00000532993.1_5'UTR	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	29	49	0	77	26					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			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		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)		ATTTTGAACCGAGAGTCACCA	0.328000			T	MLL	AML								1	0	1	1	1	1	1.000000	33	58	0	89	1	9.412926e-01	6	5	0	89	4
GRIK4	2900	broad.mit.edu	37	11	120690496	120690496	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120690496C>T	ENST00000527524.2	+	6	665	c.378C>T	c.(376-378)ttC>ttT	p.F126F	GRIK4_ENST00000438375.2_Silent_p.F126F			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	102	208	0	360	126					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		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)	CAGAGGAGTTCGTCAAGTTCC	0.532000													1	1	1	1	1	1	1.000000	106	218	0	391	0	2.531612e-01	1	2	0	391	5
GRIK4	2900	broad.mit.edu	37	11	120852900	120852900	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:120852900T>G	ENST00000527524.2	+	20	2768	c.2481T>G	c.(2479-2481)ttT>ttG	p.F827L	GRIK4_ENST00000438375.2_Missense_Mutation_p.F827L			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	29	83	0	134	827					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		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)	TGTTGGAGTTTTTATGGACTC	0.433000													1	1	1	1	1	1	1.000000	33	86	0	140	0	0	0	0	0	140	5
TECTA	7007	broad.mit.edu	37	11	121008215	121008215	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:121008215C>T	ENST00000392793.1	+	11	3298	c.3027C>T	c.(3025-3027)tgC>tgT	p.C1009C	TECTA_ENST00000264037.2_Silent_p.C1009C			O75443	TECTA_HUMAN	tectorin alpha	33	57	0	84	1009	TIL 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	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)		GCCCCATCTGCGTGGATAGCT	0.577000													1	1	1	1	1	1	1.000000	33	58	0	85	0	0	0	0	0	85	5
SORL1	6653	broad.mit.edu	37	11	121456952	121456952	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:121456952G>A	ENST00000260197.7	+	27	3857	c.3728G>A	c.(3727-3729)cGc>cAc	p.R1243H	SORL1_ENST00000525532.1_Missense_Mutation_p.R187H|SORL1_ENST00000534286.1_Missense_Mutation_p.R153H|SORL1_ENST00000532694.1_Missense_Mutation_p.R89H	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	39	74	0	124	1243	LDL-receptor class A 5.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		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)		AATGGATTCCGCTGCCCAAAC	0.507000													1	1	1	1	1	1	1.000000	42	82	0	140	1	9.592868e-01	8	5	0	140	5
UBASH3B	84959	broad.mit.edu	37	11	122647912	122647912	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:122647912C>A	ENST00000284273.5	+	3	771	c.396C>A	c.(394-396)ttC>ttA	p.F132L		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	12	25	0	40	132						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		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)		TCTGCCAGTTCTTTATGGTGA	0.592000													1	1	1	1	1	1	0.999908	14	31	0	45	1	2.453322e-01	2	1	0	45	5
SCN3B	55800	broad.mit.edu	37	11	123513189	123513189	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:123513189G>A	ENST00000392770.2	-	3	1212	c.410C>T	c.(409-411)aCg>aTg	p.T137M	SCN3B_ENST00000530277.1_Missense_Mutation_p.T137M|SCN3B_ENST00000299333.3_Missense_Mutation_p.T137M	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	34	43	0	101	137	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		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;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		CAGCCGCGTCGTCTTCACAAA	0.592000													1	1	1	1	1	1	1.000000	35	47	0	112	0	1.865546e-01	0	2	0	112	5
OR4D5	219875	broad.mit.edu	37	11	123810531	123810531	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:123810531G>A	ENST00000307033.2	+	1	282	c.208G>A	c.(208-210)Gac>Aac	p.D70N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	32	63	0	67	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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)		TTCTTTCCTGGACTTTTGCTA	0.468000													1	1	1	1	1	1	1.000000	37	65	0	74	0	0	0	0	0	74	5
OR6T1	219874	broad.mit.edu	37	11	123814421	123814421	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:123814421T>G	ENST00000321252.2	-	1	159	c.125A>C	c.(124-126)aAg>aCg	p.K42T		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	9	135	0	100	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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)		AATTAGCAGCTTGCCTGTGGC	0.488000													1	1	1	1	0	1	0.994660	9	144	0	110	0	0	0	0	0	110	4
OR8B2	26595	broad.mit.edu	37	11	124253032	124253032	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124253032C>A	ENST00000375013.2	-	1	226	c.208G>T	c.(208-210)Gat>Tat	p.D70Y		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	35	104	0	120	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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)		TAACAGAGATCAATGAAGGAG	0.403000													1	1	1	1	0	1	1.000000	38	110	0	111	0	0	0	0	0	111	4
OR8A1	390275	broad.mit.edu	37	11	124440834	124440834	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124440834C>T	ENST00000284287.3	+	1	942	c.870C>T	c.(868-870)gcC>gcT	p.A290A		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	25	58	0	59	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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)		AGAATGTGGCCTCTGTGTTCT	0.502000													1	1	1	1	1	1	1.000000	25	60	0	59	0	0	0	0	0	59	5
PANX3	116337	broad.mit.edu	37	11	124489663	124489663	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124489663C>A	ENST00000284288.2	+	4	1078	c.1011C>A	c.(1009-1011)atC>atA	p.I337I		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	24	55	0	48	337					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	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)		GAGCTAACATCTCTGAGCTCA	0.428000													1	1	1	1	1	1	1.000000	24	57	0	51	0	0	0	0	0	51	5
ROBO3	64221	broad.mit.edu	37	11	124748211	124748211	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124748211G>A	ENST00000397801.1	+	22	3391	c.3199G>A	c.(3199-3201)Gtg>Atg	p.V1067M	ROBO3_ENST00000543966.1_Intron|ROBO3_ENST00000538940.1_Missense_Mutation_p.V1045M|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	9	14	0	22	1067					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	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)		GGGAGGCAAAGTGAAGCTTCT	0.582000													1	1	1	1	0	1	0.997267	9	14	0	22	0	7.388910e-01	0	5	0	22	4
ROBO4	54538	broad.mit.edu	37	11	124763776	124763776	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124763776G>T	ENST00000306534.3	-	9	1969	c.1484C>A	c.(1483-1485)gCt>gAt	p.A495D	ROBO4_ENST00000533054.1_Missense_Mutation_p.A350D	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	10	15	0	26	495					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.A495D(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	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)		GTGCACCCTAGCTCGGCGCCG	0.632000													1	1	1	1	1	1	0.999439	11	15	0	28	0	7.830273e-01	0	6	0	28	5
HEPACAM	220296	broad.mit.edu	37	11	124793762	124793762	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124793762G>A	ENST00000298251.4	-	3	977	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	18	28	0	40	191	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GAGCATTCTCGAGTCATTGAG	0.582000													1	1	1	1	1	1	0.999999	20	29	0	41	0	0	0	0	0	41	5
CCDC15	80071	broad.mit.edu	37	11	124824652	124824652	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124824652G>T	ENST00000529051.1	+	2	283	c.24G>T	c.(22-24)aaG>aaT	p.K8N	CCDC15_ENST00000344762.5_Missense_Mutation_p.K8N			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	56	94	0	125	8						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TGGCCCGAAAGAAACCTCGAA	0.463000													1	1	1	1	1	1	1.000000	59	104	0	138	0	0	0	0	0	138	5
CCDC15	80071	broad.mit.edu	37	11	124910539	124910539	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:124910539A>G	ENST00000529051.1	+	16	3080	c.2821A>G	c.(2821-2823)Aat>Gat	p.N941D	CCDC15_ENST00000344762.5_Missense_Mutation_p.N930D|CCDC15_ENST00000530061.1_3'UTR			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	7	11	0	12	930						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CCCTGGGGGTAATTCAACTCT	0.368000													0	1	1	1	1	1	0.988321	7	11	0	12	1	5.169960e-01	4	0	0	12	4
PUS3	83480	broad.mit.edu	37	11	125763958	125763958	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:125763958T>C	ENST00000227474.3	-	4	1265	c.1168A>G	c.(1168-1170)Aat>Gat	p.N390D	HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.N390D|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	25	53	0	92	390						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	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)		GGCTTAACATTTCCCCATTCT	0.458000													1	1	1	1	1	1	1.000000	27	56	0	99	1	9.999925e-01	11	29	0	99	5
FOXRED1	55572	broad.mit.edu	37	11	126141541	126141541	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:126141541C>T	ENST00000263578.5	+	2	369	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	FOXRED1_ENST00000534011.1_Intron|FOXRED1_ENST00000442061.2_Intron|FOXRED1_ENST00000532125.1_Missense_Mutation_p.R85W	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	18	46	0	68	99						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	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)		AGTGGTGGAACGGGACCACAC	0.547000													1	1	1	1	1	1	0.999999	20	48	0	71	1	9.999996e-01	26	49	0	71	5
ST3GAL4	6484	broad.mit.edu	37	11	126279209	126279209	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:126279209A>C	ENST00000526727.1	+	8	1048	c.674A>C	c.(673-675)aAt>aCt	p.N225T	ST3GAL4_ENST00000449406.2_Missense_Mutation_p.N214T|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.N225T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.N231T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.N221T|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.N225T|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.N224T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.N220T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.N225T|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.N221T			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	49	101	0	138	225					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	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;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		TGGGATGTCAATCCTAAACAG	0.517000													1	1	1	1	1	1	1.000000	52	104	0	146	1	9.999990e-01	20	28	0	146	5
ARHGAP32	9743	broad.mit.edu	37	11	128839659	128839659	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:128839659G>T	ENST00000310343.9	-	22	5406	c.5407C>A	c.(5407-5409)Ctt>Att	p.L1803I	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.L1454I|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.L1454I|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	18	97	0	115	1803	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			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACTGAGAGAAGTCCAGTTTTC	0.547000													1	1	1	1	1	1	0.999995	19	99	0	127	1	8.071423e-01	5	13	0	127	5
BARX2	8538	broad.mit.edu	37	11	129246058	129246058	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:129246058C>T	ENST00000281437.4	+	1	224	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	56	179	1	242	43										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	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)		GAGAAACTTTCCCTCTACTCC	0.582000											OREG0021508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1	1	1	1	1.000000	61	200	2	276	1	3.373527e-01	3	2	2	276	4
PRDM10	56980	broad.mit.edu	37	11	129784708	129784708	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:129784708C>T	ENST00000358825.5	-	18	2975	c.2744G>A	c.(2743-2745)cGa>cAa	p.R915Q	PRDM10_ENST00000526082.1_Missense_Mutation_p.R829Q|PRDM10_ENST00000304538.6_Missense_Mutation_p.R825Q|PRDM10_ENST00000528746.1_Missense_Mutation_p.R885Q|PRDM10_ENST00000360871.3_Missense_Mutation_p.R911Q|PRDM10_ENST00000423662.2_Missense_Mutation_p.R829Q	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	96	168	0	271	915	Thr-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	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)		TTGTGGCGTTCGGTAGTCTGT	0.547000													1	1	1	1	1	1	1.000000	106	186	0	304	0	1.332411e-01	1	1	0	304	5
IGSF9B	22997	broad.mit.edu	37	11	133790722	133790722	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:133790722A>C	ENST00000321016.8	-	18	3128	c.2898T>G	c.(2896-2898)taT>taG	p.Y966*	IGSF9B_ENST00000533871.2_Nonsense_Mutation_p.Y966*			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	11	27	0	32	966	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	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)		GGTACCCATAATACTGGCCAT	0.721000													1	1	1	1	0	1	0.999095	11	30	0	33	0	0	0	0	0	33	4
ACAD8	27034	broad.mit.edu	37	11	134127029	134127029	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:134127029C>T	ENST00000281182.4	+	3	364	c.258C>T	c.(256-258)ttC>ttT	p.F86F	ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000537423.1_Silent_p.F9F|ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000543332.1_Intron	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	24	62	0	90	86					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			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	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)		AGCTAGGCTTCGGAGGGGTCT	0.547000													1	1	1	1	1	1	1.000000	25	64	0	98	1	9.985828e-01	3	24	0	98	5
GLB1L3	112937	broad.mit.edu	37	11	134183838	134183838	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr11:134183838T>C	ENST00000431683.2	+	17	1583	c.1583T>C	c.(1582-1584)aTa>aCa	p.I528T		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	11	14	0	21	528					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	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)		TCTGCAGGAATAACTGGATCT	0.468000													1	1	1	1	1	1	0.999728	12	17	0	22	0	0	0	0	0	22	5
WNK1	65125	broad.mit.edu	37	12	922930	922930	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:922930G>A	ENST00000537687.1	+	2	1525	c.882G>A	c.(880-882)aaG>aaA	p.K294K	WNK1_ENST00000447667.2_Silent_p.K294K|WNK1_ENST00000535572.1_Silent_p.K294K|WNK1_ENST00000530271.2_Silent_p.K294K|WNK1_ENST00000315939.6_Silent_p.K294K	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	4	34	0	24	294	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	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)			TAAAAGGAAAGAAGTGCATTG	0.358000													0	0	1	0	1	1	0.893699	4	37	0	29	0	2.836099e-01	1	8	0	29	2
WNT5B	81029	broad.mit.edu	37	12	1740581	1740581	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:1740581A>G	ENST00000397196.2	+	2	293	c.61A>G	c.(61-63)Aca>Gca	p.T21A	WNT5B_ENST00000542408.1_Missense_Mutation_p.T21A|WNT5B_ENST00000310594.3_Missense_Mutation_p.T21A|WNT5B_ENST00000537031.1_Missense_Mutation_p.T21A	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	28	57	0	114	21					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TCAGCTTCTGACAGACGCCAA	0.642000													1	1	1	1	1	1	1.000000	33	57	0	127	0	1.390837e-01	1	1	0	127	5
CACNA2D4	93589	broad.mit.edu	37	12	1909191	1909191	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:1909191G>A	ENST00000382722.5	-	33	3311	c.2949C>T	c.(2947-2949)ggC>ggT	p.G983G	CACNA2D4_ENST00000538450.1_Silent_p.G113G|CACNA2D4_ENST00000538027.2_Silent_p.G128G|CACNA2D4_ENST00000588077.1_Silent_p.G919G|CACNA2D4_ENST00000586184.1_Silent_p.G983G|CACNA2D4_ENST00000585708.1_Silent_p.G919G|CACNA2D4_ENST00000587995.1_Silent_p.G958G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	7	16	0	19	983						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	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)		CGTACCAGGAGCCCCAGACAC	0.592000													1	1	1	1	1	1	0.985917	7	19	0	26	0	4.371524e-01	0	5	0	26	5
CACNA1C	775	broad.mit.edu	37	12	2763047	2763047	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:2763047A>G	ENST00000399655.1	+	33	4386	c.4121A>G	c.(4120-4122)tAc>tGc	p.Y1374C	CACNA1C_ENST00000399621.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.Y1363C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.Y1361C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.Y1363C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.Y1402C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.Y1394C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000347598.4_Missense_Mutation_p.Y1422C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.Y1396C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.Y1399C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.Y1374C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.Y1391C	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	8	21	0	30	1422					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			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			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)	TTCTTCATCTACGCGGTGATC	0.627000													1	1	1	1	1	1	0.992492	8	25	0	30	0	1.718147e-01	0	3	0	30	5
RHNO1	83695	broad.mit.edu	37	12	2997159	2997159	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:2997159G>A	ENST00000489288.2	+	3	403	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	RHNO1_ENST00000461997.2_Missense_Mutation_p.R70Q|RHNO1_ENST00000464682.2_3'UTR	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1			RAD9-HUS1-RAD1 interacting nuclear orphan 1	11	21	0	24																		CACTCAAGTCGAAAACCTACC	0.453000													1	1	1	1	1	1	0.999637	12	24	0	25	1	9.999997e-01	38	49	0	25	5
TULP3	7289	broad.mit.edu	37	12	3018701	3018701	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:3018701C>T	ENST00000448120.2	+	2	99	c.48C>T	c.(46-48)ttC>ttT	p.F16F	TULP3_ENST00000397132.2_Silent_p.F16F	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	32	61	0	102	16					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ACAGTGTCTTCCATGAAGAAA	0.358000													1	1	1	1	1	1	1.000000	32	67	0	108	1	8.359976e-01	6	3	0	108	5
TULP3	7289	broad.mit.edu	37	12	3031488	3031488	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:3031488C>T	ENST00000448120.2	+	4	365	c.314C>T	c.(313-315)tCc>tTc	p.S105F	TULP3_ENST00000397132.2_Missense_Mutation_p.S105F	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	33	59	0	99	105					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCAGTAAGCTCCTCTGTTGTG	0.443000													1	1	1	1	1	1	1.000000	35	66	0	110	1	9.996518e-01	10	17	0	110	5
CCND2	894	broad.mit.edu	37	12	4398043	4398043	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:4398043G>A	ENST00000261254.3	+	4	876	c.607G>A	c.(607-609)Gca>Aca	p.A203T		NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	28	134	0	158	203					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			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GTCGATGATCGCAACTGGAAG	0.547000			T	IGL@	NHL,CLL								1	1	1	1	1	1	1.000000	31	148	0	174	0	6.451325e-01	0	12	0	174	5
DYRK4	8798	broad.mit.edu	37	12	4708218	4708218	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:4708218G>T	ENST00000540757.2	+	7	745	c.585G>T	c.(583-585)aaG>aaT	p.K195N	DYRK4_ENST00000543431.1_Missense_Mutation_p.K195N|DYRK4_ENST00000010132.5_Missense_Mutation_p.K195N	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	26	50	0	78	195	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AGTTGATGAAGAATAACAACT	0.393000													1	1	1	1	1	1	1.000000	27	56	0	87	0	0	0	0	0	87	5
KCNA6	3742	broad.mit.edu	37	12	4920773	4920773	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:4920773G>T	ENST00000433855.1	+	1	2432	c.1566G>T	c.(1564-1566)gaG>gaT	p.E522D	KCNA6_ENST00000280684.3_Missense_Mutation_p.E522D	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	33	73	0	134	522						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CCTATGCAGAGAAAAGAATGC	0.567000										HNSCC(72;0.22)			1	1	1	1	1	1	1.000000	42	80	0	150	0	4.310017e-01	0	4	0	150	5
KCNA1	3736	broad.mit.edu	37	12	5021796	5021796	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:5021796G>T	ENST00000382545.3	+	2	2359	c.1252G>T	c.(1252-1254)Gaa>Taa	p.E418*	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	73	170	0	222	418					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTACCACCGAGAAACTGAGGG	0.527000													1	1	1	1	1	1	1.000000	78	179	0	242	0	0	0	0	0	242	5
KCNA5	3741	broad.mit.edu	37	12	5154876	5154876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:5154876C>A	ENST00000252321.3	+	1	1792	c.1563C>A	c.(1561-1563)taC>taA	p.Y521*		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	26	51	0	75	521						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						ACTTCAACTACTTCTACCACC	0.627000													1	1	1	1	1	1	1.000000	28	56	0	80	0	0	0	0	0	80	5
VWF	7450	broad.mit.edu	37	12	6125981	6125981	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6125981T>G	ENST00000261405.5	-	29	5363	c.5109A>C	c.(5107-5109)ccA>ccC	p.P1703P		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	30	102	0	153	1703	VWFA 3; main binding site for collagens type I and III.				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			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AATAAGAAGCTGGGAAACTGG	0.522000													1	1	1	1	1	1	1.000000	31	110	0	176	0	9.959280e-01	0	33	0	176	5
PLEKHG6	55200	broad.mit.edu	37	12	6427545	6427545	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6427545C>T	ENST00000449001.2	+	10	1632	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	PLEKHG6_ENST00000536531.1_Silent_p.L412L|PLEKHG6_ENST00000396988.3_Silent_p.L412L|PLEKHG6_ENST00000011684.7_Silent_p.L412L	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	26	39	0	77	412					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ACAGCTGCTGCTGGAGGGGCC	0.642000													1	1	1	1	1	1	1.000000	29	48	0	84	1	9.997530e-01	13	14	0	84	5
CHD4	1108	broad.mit.edu	37	12	6701195	6701195	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6701195T>G	ENST00000309577.6	-	20	3140	c.2977A>C	c.(2977-2979)Aat>Cat	p.N993H	CHD4_ENST00000544040.1_Missense_Mutation_p.N986H|CHD4_ENST00000357008.2_Missense_Mutation_p.N993H|CHD4_ENST00000544484.1_Missense_Mutation_p.N990H			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	36	66	0	63	993					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						GCTTCAAAATTTCGAGTGAGG	0.458000													1	1	1	1	1	1	1.000000	39	68	0	71	1	1	132	15	0	71	5
CHD4	1108	broad.mit.edu	37	12	6709138	6709138	+	Nonsense_Mutation	SNP	G	G	T	rs147387698		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:6709138G>T	ENST00000309577.6	-	10	1446	c.1283C>A	c.(1282-1284)tCg>tAg	p.S428*	CHD4_ENST00000544040.1_Nonsense_Mutation_p.S421*|CHD4_ENST00000357008.2_Nonsense_Mutation_p.S428*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.S425*			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	123	183	0	261	428					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						CTCACCCTCCGAATTGTCCTC	0.547000													1	1	1	1	1	1	1.000000	134	205	0	293	1	1	2	80	0	293	5
LPCAT3	10162	broad.mit.edu	37	12	7086403	7086403	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7086403G>A	ENST00000261407.4	-	12	1454	c.1369C>T	c.(1369-1371)Ctt>Ttt	p.L457F	U47924.19_ENST00000564245.1_RNA|LPCAT3_ENST00000535021.1_5'UTR	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	23	40	0	79	457					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						ATGTGGCCAAGGAAATAGATG	0.443000													1	1	1	1	1	1	1.000000	26	44	0	90	1	1	34	56	0	90	5
C1R	715	broad.mit.edu	37	12	7188438	7188438	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7188438G>A	ENST00000542285.1	-	11	1509	c.1360C>T	c.(1360-1362)Ccc>Tcc	p.P454S				P00736	C1R_HUMAN	complement component 1, r subcomponent	7	56	0	49	506					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	TGTTCCTTGGGATACAGGGTG	0.612000													1	1	1	1	1	1	0.990878	8	59	0	49	1	1	69	452	0	49	5
CLSTN3	9746	broad.mit.edu	37	12	7302202	7302202	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7302202G>A	ENST00000537408.1	+	13	2732	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	CLSTN3_ENST00000266546.6_Missense_Mutation_p.E720K			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	15	41	0	53	720					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCTGGATCCCGAGCGGGAAAG	0.572000													1	1	1	1	1	1	0.999974	16	44	0	57	1	1	92	91	0	57	5
CD163L1	283316	broad.mit.edu	37	12	7520728	7520728	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7520728G>T	ENST00000313599.3	-	17	4195	c.4138C>A	c.(4138-4140)Ctc>Atc	p.L1380I	CD163L1_ENST00000416109.2_Missense_Mutation_p.L1390I|CD163L1_ENST00000396630.1_Missense_Mutation_p.L1380I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	25	64	0	79	1380						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACCACGTGAGAAATAGAATA	0.408000													1	1	1	1	1	1	1.000000	29	77	0	91	0	0	0	0	0	91	5
CD163	9332	broad.mit.edu	37	12	7639348	7639348	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7639348A>C	ENST00000359156.4	-	10	2407	c.2205T>G	c.(2203-2205)taT>taG	p.Y735*	CD163_ENST00000541972.1_Nonsense_Mutation_p.Y723*|CD163_ENST00000432237.2_Nonsense_Mutation_p.Y735*|CD163_ENST00000396620.3_Nonsense_Mutation_p.Y768*	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	41	104	0	115	735	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGCCCTCATGATAGATCTCTA	0.512000													1	1	1	1	1	1	1.000000	44	109	0	124	0	9.828386e-01	0	19	0	124	5
CD163	9332	broad.mit.edu	37	12	7649418	7649418	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7649418T>C	ENST00000359156.4	-	5	1292	c.1090A>G	c.(1090-1092)Aca>Gca	p.T364A	CD163_ENST00000541972.1_Missense_Mutation_p.T352A|CD163_ENST00000432237.2_Missense_Mutation_p.T364A|CD163_ENST00000396620.3_Missense_Mutation_p.T364A	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	10	37	0	28	364	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCAGAACATGTCACGCCAGCA	0.423000													1	1	1	1	1	1	0.998957	11	40	0	29	0	4.063567e-01	0	6	0	29	5
APOBEC1	339	broad.mit.edu	37	12	7803651	7803651	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7803651A>G	ENST00000229304.4	-	4	549	c.529T>C	c.(529-531)Ttg>Ctg	p.L177L		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	12	114	0	105	177					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			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AGTGCGTACAACATCATCCAC	0.443000													1	1	1	1	1	1	0.999624	13	119	0	111	0	0	0	1	0	111	5
GDF3	9573	broad.mit.edu	37	12	7842753	7842753	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:7842753G>T	ENST00000329913.3	-	2	863	c.816C>A	c.(814-816)aaC>aaA	p.N272K		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	32	58	0	89	272					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGTCCCGGAAGTTAATGAATA	0.532000													1	1	1	1	1	1	1.000000	35	61	0	103	0	0	0	1	0	103	5
CLEC4A	50856	broad.mit.edu	37	12	8276482	8276482	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:8276482C>T	ENST00000229332.5	+	1	255	c.8C>T	c.(7-9)tCg>tTg	p.S3L	CLEC4A_ENST00000345999.3_Missense_Mutation_p.S3L|CLEC4A_ENST00000352620.3_Missense_Mutation_p.S3L|CLEC4A_ENST00000360500.3_Missense_Mutation_p.S3L	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	17	23	0	28	3					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		ATTATGACTTCGGAAATCACT	0.378000													1	1	1	1	1	1	0.999997	18	24	0	29	0	0	0	0	0	29	5
ZNF705A	440077	broad.mit.edu	37	12	8329731	8329731	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:8329731C>A	ENST00000359286.4	+	5	544	c.455C>A	c.(454-456)tCt>tAt	p.S152Y		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	13	170	0	118	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		TGTGGAAAATCTCTTCGTAAT	0.358000													1	1	1	1	0	1	0.999789	14	179	0	122	0	0	0	0	0	122	4
A2ML1	144568	broad.mit.edu	37	12	8995860	8995860	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:8995860G>A	ENST00000299698.7	+	12	1559	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	38	71	0	100	304						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CGGCTAAACGGCCCCTTGAAA	0.552000													1	1	1	1	1	1	1.000000	45	76	0	108	0	0	0	0	0	108	5
A2M	2	broad.mit.edu	37	12	9220799	9220799	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:9220799T>C	ENST00000318602.7	-	35	4695	c.4388A>G	c.(4387-4389)tAc>tGc	p.Y1463C		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	8	11	0	25	1463					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			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	AGGAGCATTGTACTCAGCAAT	0.428000													1	1	1	1	1	1	0.998919	10	12	0	27	1	1	18	529	0	27	5
CLEC12A	160364	broad.mit.edu	37	12	10124262	10124262	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10124262G>T	ENST00000304361.4	+	1	249	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	CLEC12A_ENST00000355690.4_Nonsense_Mutation_p.E33*|CLEC12A_ENST00000350667.4_Nonsense_Mutation_p.E23*|CLEC12A_ENST00000434319.2_Nonsense_Mutation_p.E23*	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	15	26	0	47	23						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						AAAAATCCCAGAAATTGGCAA	0.323000													1	1	1	1	1	1	0.999992	17	29	0	57	0	0	0	0	0	57	5
TMEM52B	120939	broad.mit.edu	37	12	10332194	10332194	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10332194C>T	ENST00000298530.3	+	1	583	c.5C>T	c.(4-6)tCg>tTg	p.S2L	TMEM52B_ENST00000381923.2_Silent_p.V7V|TMEM52B_ENST00000536952.1_Silent_p.V7V	NM_153022.2	NP_694567.1			transmembrane protein 52B	57	151	0	216									p.S2L(1)									GAGTTCATGTCGTGGCGGCCT	0.478000													1	1	1	1	1	1	1.000000	72	176	0	262	0	0	0	0	0	262	5
KLRC3	3823	broad.mit.edu	37	12	10569349	10569349	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10569349A>C	ENST00000396439.2	-	5	548	c.504T>G	c.(502-504)atT>atG	p.I168M	NKG2-E_ENST00000539033.1_Missense_Mutation_p.I168M|KLRC3_ENST00000381903.2_Missense_Mutation_p.I168M|KLRC3_ENST00000381904.2_Missense_Mutation_p.I168M	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3	4	25	0	29											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						AGGAAGGTAAAATGCTGGCCA	0.299000													0	0	1	1	0	1	0.895102	4	25	0	27	0	0	0	0	0	27	2
TAS2R8	50836	broad.mit.edu	37	12	10959316	10959316	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10959316G>A	ENST00000240615.2	-	1	576	c.264C>T	c.(262-264)ttC>ttT	p.F88F		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	36	41	0	68	88					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAAATGTCCAGAAGGTAAAAA	0.348000													1	1	1	1	1	1	1.000000	40	44	0	73	0	0	0	0	0	73	5
TAS2R9	50835	broad.mit.edu	37	12	10962679	10962679	+	Translation_Start_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:10962679G>T	ENST00000240691.2	-	0	88					NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	15	39	0	28						sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGGCATGCCAGCAAAGACTTG	0.368000													1	0	1	1	0	1	0.999946	15	42	0	28	0	0	0	0	0	28	3
TAS2R50	259296	broad.mit.edu	37	12	11139431	11139431	+	Nonsense_Mutation	SNP	G	G	T	rs79147066		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:11139431G>T	ENST00000506868.1	-	1	80	c.29C>A	c.(28-30)tCa>tAa	p.S10*	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	16	42	0	37	10					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.S10fs*25(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TATTAGAATTGAAAAAAAAAT	0.318000													1	1	1	1	1	1	0.999988	17	44	0	37	0	0	0	0	0	37	5
TAS2R20	259295	broad.mit.edu	37	12	11150374	11150374	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:11150374G>A	ENST00000538986.1	-	1	100	c.101C>T	c.(100-102)gCc>gTc	p.A34V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	20	39	0	40	34					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CTTGACCCAGGCAATGAAATT	0.368000													1	1	1	1	1	1	0.999999	20	43	0	42	0	0	0	0	0	42	5
ETV6	2120	broad.mit.edu	37	12	12038927	12038927	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12038927T>C	ENST00000396373.4	+	7	1494	c.1220T>C	c.(1219-1221)aTc>aCc	p.I407T		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	35	88	0	94	407						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CTAAACATTATCAGGAAGGAG	0.423000			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	1	1	1	1	1	1.000000	39	101	0	109	1	9.982194e-01	16	13	0	109	5
LRP6	4040	broad.mit.edu	37	12	12300346	12300346	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12300346A>C	ENST00000261349.4	-	15	3427	c.3351T>G	c.(3349-3351)ttT>ttG	p.F1117L	LRP6_ENST00000543091.1_Missense_Mutation_p.F1117L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	5	91	0	107	1117	Beta-propeller 4.				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			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AATCAGCCCAAAAGAGCTTGC	0.433000													1	1	1	1	0	1	0.966425	6	99	0	114	0	7.728635e-02	1	6	0	114	4
LRP6	4040	broad.mit.edu	37	12	12317334	12317334	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12317334A>C	ENST00000261349.4	-	9	2001	c.1925T>G	c.(1924-1926)aTc>aGc	p.I642S	LRP6_ENST00000543091.1_Missense_Mutation_p.I642S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	21	45	0	61	642	Beta-propeller 3.				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			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AATTCGTCTGATATCTGCTCT	0.443000													1	1	1	1	1	1	1.000000	21	46	0	64	1	2.434608e-01	3	0	0	64	5
MANSC1	54682	broad.mit.edu	37	12	12491458	12491458	+	Missense_Mutation	SNP	C	C	T	rs139772377	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12491458C>T	ENST00000535902.1	-	3	823	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	MANSC1_ENST00000545735.1_Missense_Mutation_p.R6Q|MANSC1_ENST00000396349.3_Missense_Mutation_p.R53Q			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	12	77	0	85	87	MANSC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AGCTGTTTTTCGAGTGTCGAA	0.403000													1	1	1	1	1	1	0.999829	14	87	0	93	1	9.608766e-01	9	27	0	93	5
DUSP16	80824	broad.mit.edu	37	12	12633209	12633209	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:12633209C>T	ENST00000228862.2	-	6	1394	c.763G>A	c.(763-765)Gct>Act	p.A255T	DUSP16_ENST00000545864.1_Intron|DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	45	85	0	104	255	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			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TAGGCGATAGCGATGGTGGCG	0.458000													1	1	1	1	1	1	1.000000	50	90	0	107	1	9.986134e-01	11	11	0	107	5
WBP11	51729	broad.mit.edu	37	12	14947660	14947660	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:14947660G>A	ENST00000261167.2	-	7	765	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	WBP11_ENST00000537574.1_Missense_Mutation_p.R178W	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	34	46	0	79	178	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GAAACTGCCCGAGTTGGAGGT	0.428000													1	1	1	1	1	1	1.000000	34	47	0	79	1	1	46	52	0	79	5
RERG	85004	broad.mit.edu	37	12	15262170	15262170	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:15262170C>A	ENST00000256953.2	-	5	810	c.474G>T	c.(472-474)gaG>gaT	p.E158D	RERG_ENST00000536465.1_Missense_Mutation_p.E158D|RERG_ENST00000546331.1_Missense_Mutation_p.E139D|RERG_ENST00000538313.1_Missense_Mutation_p.E158D	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	46	70	0	118	158					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			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CATAGAATATCTCTGTGATGT	0.537000													1	1	1	1	1	1	1.000000	49	75	0	124	0	8.300496e-01	1	6	0	124	5
PTPRO	5800	broad.mit.edu	37	12	15652380	15652380	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:15652380C>A	ENST00000281171.4	+	4	843	c.513C>A	c.(511-513)ttC>ttA	p.F171L	PTPRO_ENST00000543886.1_Missense_Mutation_p.F171L|PTPRO_ENST00000348962.2_Missense_Mutation_p.F171L	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	23	26	0	42	171	Fibronectin type-III 2.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TCACAGATTTCTTTAAGGGAA	0.328000													1	1	1	1	1	1	1.000000	26	28	0	46	0	2.368421e-01	1	1	0	46	5
PLEKHA5	54477	broad.mit.edu	37	12	19512414	19512414	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:19512414A>C	ENST00000538714.1	+	24	3097	c.3093A>C	c.(3091-3093)gaA>gaC	p.E1031D	PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E1031D|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E1139D|PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E973D|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E1036D|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E731D|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E955D|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E962D|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E917D	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	7	50	0	72	973							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CAGACCATGAAACTCCTGCAA	0.388000													1	1	1	1	1	1	0.982824	7	53	0	77	1	9.627779e-01	9	39	0	77	5
PDE3A	5139	broad.mit.edu	37	12	20801671	20801671	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:20801671C>A	ENST00000359062.3	+	13	2655	c.2615C>A	c.(2614-2616)gCt>gAt	p.A872D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	21	48	0	84	872	Catalytic (By similarity).|Poly-Ala.				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			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CACGCAGCTGCTGCATGGAAT	0.378000													1	1	1	1	1	1	1.000000	25	52	0	89	0	4.000206e-01	0	4	0	89	5
LST3	0	broad.mit.edu	37	12	21207445	21207445	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21207445G>A	ENST00000381541.3	+	11	1622	c.1557G>A	c.(1555-1557)gcG>gcA	p.A519A	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.A519A|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000421593.2_Silent_p.A472A						13	36	0	56									p.A472A(1)									ATTACTCAGCGCACTTGGGTG	0.353000													1	1	1	1	0	1	0.999889	14	39	0	68	0	0	0	0	0	68	4
SLCO1B1	10599	broad.mit.edu	37	12	21294589	21294589	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21294589G>A	ENST00000256958.2	+	2	177	c.81G>A	c.(79-81)ttG>ttA	p.L27L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	14	26	0	34	27					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			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GCAATGGATTGAAGGTAGAAT	0.279000													1	1	1	1	0	1	0.999964	15	27	0	37	0	0	0	0	0	37	4
SLCO1A2	6579	broad.mit.edu	37	12	21422631	21422631	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21422631G>T	ENST00000307378.6	-	16	2584	c.1864C>A	c.(1864-1866)Ctt>Att	p.L622I	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.L490I|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.L490I|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.L622I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	34	53	0	73	622					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTCCTCAAAAGAATTAAGATG	0.358000													1	1	1	1	1	1	1.000000	36	62	0	83	0	0	0	0	0	83	5
SLCO1A2	6579	broad.mit.edu	37	12	21453329	21453329	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21453329T>G	ENST00000307378.6	-	9	1583	c.863A>C	c.(862-864)gAc>gCc	p.D288A	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.D286A|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.D156A|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.D156A|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.D288A	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	8	16	0	25	288					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTTTTGTTTGTCTTCATTTTC	0.318000													1	0	1	1	1	1	0.996951	9	17	0	27	0	0	0	0	0	27	4
PYROXD1	79912	broad.mit.edu	37	12	21615024	21615024	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21615024A>G	ENST00000538582.1	+	9	1503	c.750A>G	c.(748-750)ccA>ccG	p.P250P	PYROXD1_ENST00000240651.9_Silent_p.P321P|PYROXD1_ENST00000545178.1_3'UTR			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	8	31	0	47	321							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						GAGTTACACCAAATGTAGAAC	0.348000													0	1	1	1	1	1	0.997974	10	35	0	54	0	6.913976e-01	0	10	0	54	4
GYS2	2998	broad.mit.edu	37	12	21733410	21733410	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:21733410C>T	ENST00000261195.2	-	2	423	c.169G>A	c.(169-171)Gat>Aat	p.D57N		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	25	55	0	101	57					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			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCCCATTCATCTGCTGTTGTT	0.363000													1	1	1	1	1	1	1.000000	26	58	0	114	0	0	0	0	0	114	5
ABCC9	10060	broad.mit.edu	37	12	22025633	22025633	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22025633T>C	ENST00000261200.4	-	16	2123	c.2124A>G	c.(2122-2124)ggA>ggG	p.G708G	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.G672G|ABCC9_ENST00000261201.4_Silent_p.G708G	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	61	95	0	152	708	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			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ACTTCCCACATCCTACTTGGC	0.413000													1	1	1	1	1	1	1.000000	72	107	0	177	0	0	0	0	0	177	5
ABCC9	10060	broad.mit.edu	37	12	22063775	22063775	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22063775G>T	ENST00000261200.4	-	7	1148	c.1149C>A	c.(1147-1149)ctC>ctA	p.L383L	ABCC9_ENST00000345162.2_Silent_p.L383L|ABCC9_ENST00000261201.4_Silent_p.L383L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	22	53	0	113	383	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			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGCTCCACGGAGGTTAATGC	0.408000													1	1	1	1	1	1	1.000000	25	58	0	128	0	0	0	0	0	128	5
C2CD5	9847	broad.mit.edu	37	12	22609946	22609946	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22609946T>G	ENST00000333957.4	-	23	2938	c.2683A>C	c.(2683-2685)Att>Ctt	p.I895L	C2CD5_ENST00000396028.2_Missense_Mutation_p.I937L|C2CD5_ENST00000545552.1_Missense_Mutation_p.I949L|C2CD5_ENST00000446597.1_Missense_Mutation_p.I946L|C2CD5_ENST00000542676.1_Missense_Mutation_p.I946L|C2CD5_ENST00000536386.1_Missense_Mutation_p.I948L|C2CD5_ENST00000544930.1_Missense_Mutation_p.I751L	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5	15	26	0	21																		AACATGTTAATTATCCCAAGA	0.323000													1	1	1	1	1	1	0.999993	17	26	0	23	1	9.999668e-01	22	14	0	23	5
C2CD5	9847	broad.mit.edu	37	12	22635604	22635604	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:22635604C>T	ENST00000333957.4	-	14	1879	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	C2CD5_ENST00000396028.2_Missense_Mutation_p.E533K|C2CD5_ENST00000545552.1_Missense_Mutation_p.E555K|C2CD5_ENST00000446597.1_Missense_Mutation_p.E542K|C2CD5_ENST00000542676.1_Missense_Mutation_p.E542K|C2CD5_ENST00000536386.1_Missense_Mutation_p.E544K|C2CD5_ENST00000544930.1_Missense_Mutation_p.E357K	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5	27	36	0	60																		ACTTCATATTCCATAAATGGC	0.348000													1	1	1	1	1	1	1.000000	28	38	0	64	1	9.991446e-01	14	6	0	64	5
CASC1	55259	broad.mit.edu	37	12	25264728	25264728	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:25264728A>C	ENST00000354189.5	-	14	1966	c.1931T>G	c.(1930-1932)tTt>tGt	p.F644C	CASC1_ENST00000545133.1_Missense_Mutation_p.F521C|CASC1_ENST00000537577.1_Missense_Mutation_p.F468C|CASC1_ENST00000395987.3_Missense_Mutation_p.F586C|CASC1_ENST00000395990.2_Missense_Mutation_p.F540C|CASC1_ENST00000320267.9_Missense_Mutation_p.F580C	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	14	22	0	34	580										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	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)			AATAACATAAAAATGAGAGTG	0.294000													1	1	1	1	1	1	0.999968	15	24	0	38	0	3.416255e-01	0	3	0	38	5
CASC1	55259	broad.mit.edu	37	12	25297311	25297311	+	Silent	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:25297311A>T	ENST00000354189.5	-	9	1199	c.1164T>A	c.(1162-1164)atT>atA	p.I388I	CASC1_ENST00000545133.1_Silent_p.I265I|CASC1_ENST00000537577.1_Silent_p.I212I|CASC1_ENST00000395987.3_Silent_p.I330I|CASC1_ENST00000395990.2_Silent_p.I284I|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000320267.9_Silent_p.I324I	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	44	86	0	111	324										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	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)			TTTTCACTTCAATATCACCTT	0.353000													1	1	1	1	1	1	1.000000	46	97	0	118	1	5.187992e-01	3	2	0	118	5
CASC1	55259	broad.mit.edu	37	12	25299943	25299943	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:25299943C>T	ENST00000354189.5	-	8	890	c.855G>A	c.(853-855)aaG>aaA	p.K285K	CASC1_ENST00000545133.1_Silent_p.K162K|CASC1_ENST00000537577.1_Silent_p.K109K|CASC1_ENST00000395987.3_Silent_p.K227K|CASC1_ENST00000395990.2_Silent_p.K181K|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000320267.9_Silent_p.K221K	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	22	39	0	62	221										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	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)			ACCTTGGATTCTTCTTGAGGT	0.418000													1	1	1	1	1	1	1.000000	23	45	0	69	1	8.541950e-01	7	2	0	69	5
ITPR2	3709	broad.mit.edu	37	12	26775334	26775334	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:26775334C>A	ENST00000381340.3	-	25	3543	c.3127G>T	c.(3127-3129)Gaa>Taa	p.E1043*	ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	6	5	0	16	1043					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	p.E1043*(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGATTTTTTTCTTTTCTATAA	0.373000													1	0	1	1	1	1	0.979771	6	6	0	19	0	0	0	1	0	19	4
MRPS35	60488	broad.mit.edu	37	12	27869353	27869353	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:27869353G>A	ENST00000081029.3	+	3	354	c.283G>A	c.(283-285)Gtg>Atg	p.V95M	MRPS35_ENST00000538315.1_Missense_Mutation_p.V95M	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	16	43	0	47	95					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		p.V95M(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AAAAAAGGGCGTGCCCATGGC	0.443000													1	1	1	1	1	1	1.000000	22	47	0	56	1	1	50	92	0	56	5
OVCH1	341350	broad.mit.edu	37	12	29642678	29642678	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:29642678C>T	ENST00000318184.5	-	6	576	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	6	10	0	18	193	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGTTCCATTTCTTGTAGGACA	0.448000													1	0	1	1	1	1	0.994690	8	11	0	19	0	0	0	0	0	19	4
TMTC1	83857	broad.mit.edu	37	12	29659799	29659799	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:29659799G>A	ENST00000256062.5	-	18	2778	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	TMTC1_ENST00000539277.1_Nonsense_Mutation_p.R877*|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.R939*|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Nonsense_Mutation_p.R901*	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	37	74	0	121	877						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TCCTTTTCTCGAACTTCTTGT	0.453000													1	1	1	1	1	1	1.000000	41	87	0	137	0	3.893748e-01	0	4	0	137	5
CAPRIN2	65981	broad.mit.edu	37	12	30881756	30881756	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:30881756T>G	ENST00000251071.5	-	8	2358	c.1608A>C	c.(1606-1608)gaA>gaC	p.E536D	CAPRIN2_ENST00000395805.2_Missense_Mutation_p.E536D|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E536D|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E203D|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E536D|CAPRIN2_ENST00000538387.1_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	32	86	0	147	536					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			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	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)					TTGAATCCTGTTCTTCACACA	0.433000													1	1	1	1	1	1	1.000000	38	96	0	167	0	6.361239e-01	1	6	0	167	5
DENND5B	160518	broad.mit.edu	37	12	31579260	31579260	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:31579260G>A	ENST00000389082.5	-	9	2469	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	DENND5B_ENST00000536562.1_Silent_p.F770F|DENND5B_ENST00000306833.6_Silent_p.F770F	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	7	11	0	9	735						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGCCTTCTACGAATTTACAGT	0.398000													0	0	1	1	0	1	0.988321	7	11	0	9	0	3.584416e-01	1	2	0	9	2
FGD4	121512	broad.mit.edu	37	12	32751469	32751469	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32751469A>G	ENST00000427716.2	+	5	1063	c.639A>G	c.(637-639)gaA>gaG	p.E213E	FGD4_ENST00000525053.1_Silent_p.E325E|FGD4_ENST00000546442.1_Silent_p.E120E|FGD4_ENST00000381025.3_5'UTR|FGD4_ENST00000534526.2_Silent_p.E350E|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000531134.1_Silent_p.E298E	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	21	37	0	50	213	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			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TAGCCAATGAACTTTTGCTTA	0.308000													1	1	1	1	1	1	1.000000	23	41	0	61	1	3.032964e-01	3	0	0	61	5
FGD4	121512	broad.mit.edu	37	12	32754280	32754280	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32754280C>A	ENST00000427716.2	+	6	1183	c.759C>A	c.(757-759)atC>atA	p.I253I	FGD4_ENST00000525053.1_Silent_p.I365I|FGD4_ENST00000546442.1_Silent_p.I160I|FGD4_ENST00000381025.3_Silent_p.I5I|FGD4_ENST00000534526.2_Silent_p.I390I|FGD4_ENST00000266482.3_Silent_p.I5I|FGD4_ENST00000531134.1_Silent_p.I338I	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	20	38	0	51	253	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			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGAATAAAATCTTTTCTAATA	0.353000													1	1	1	1	1	1	1.000000	24	45	0	54	1	2.873979e-01	3	0	0	54	5
FGD4	121512	broad.mit.edu	37	12	32772699	32772699	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32772699C>T	ENST00000427716.2	+	11	1830	c.1406C>T	c.(1405-1407)aCc>aTc	p.T469I	FGD4_ENST00000531134.1_Missense_Mutation_p.T554I|FGD4_ENST00000525053.1_Missense_Mutation_p.T581I|FGD4_ENST00000546442.1_Missense_Mutation_p.T376I|FGD4_ENST00000381025.3_Missense_Mutation_p.T221I|FGD4_ENST00000534526.2_Missense_Mutation_p.T606I|FGD4_ENST00000266482.3_Missense_Mutation_p.T221I	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	29	64	0	89	469	PH 1.				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			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ACAGTTCGAACCAGGGTTGGC	0.413000													1	1	1	1	1	1	1.000000	30	67	0	96	0	2.351275e-01	0	3	0	96	5
DNM1L	10059	broad.mit.edu	37	12	32884447	32884447	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32884447T>C	ENST00000452533.2	+	11	1520		c.e11+2		DNM1L_ENST00000549701.1_Splice_Site|DNM1L_ENST00000358214.5_Splice_Site|DNM1L_ENST00000547312.1_Splice_Site|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Splice_Site|DNM1L_ENST00000381000.4_Splice_Site|DNM1L_ENST00000266481.6_Splice_Site|DNM1L_ENST00000553257.1_Splice_Site	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	6	61	0	52						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			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AGTACACAGGTAACGGAGAGA	0.433000													1	1	1	1	1	1	0.982458	7	64	0	55	0	0	1	0	0	55	5
YARS2	51067	broad.mit.edu	37	12	32908477	32908477	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:32908477A>C	ENST00000324868.8	-	1	359	c.332T>G	c.(331-333)cTg>cGg	p.L111R		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	14	60	0	47	111					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	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)	GCCTCCCACCAGCGCGATCAC	0.672000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999929	15	62	0	49	1	9.989596e-01	9	42	0	49	5
ALG10B	144245	broad.mit.edu	37	12	38714484	38714484	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:38714484T>G	ENST00000308742.4	+	3	1207	c.891T>G	c.(889-891)ttT>ttG	p.F297L	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	30	85	0	89	297					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTTTTTCATTTACTCTCTTTT	0.348000													1	1	1	1	1	1	1.000000	30	91	0	89	1	2.667782e-01	2	2	0	89	5
ALG10B	144245	broad.mit.edu	37	12	38714839	38714839	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:38714839C>T	ENST00000308742.4	+	3	1562	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	31	91	0	97	416					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGGAATTTCGTTACTTCAT	0.333000													1	1	1	1	1	1	1.000000	35	102	0	106	0	0	0	1	0	106	5
CPNE8	144402	broad.mit.edu	37	12	39161529	39161529	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:39161529C>T	ENST00000331366.5	-	8	579	c.483G>A	c.(481-483)ttG>ttA	p.L161L	CPNE8_ENST00000360449.3_Silent_p.L149L	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	19	35	0	45	161	C2 2.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AAAATTGCATCAAAACGGCAT	0.328000													1	1	1	1	1	1	1.000000	23	38	0	52	1	9.268120e-01	3	7	0	52	5
CPNE8	144402	broad.mit.edu	37	12	39242380	39242380	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:39242380C>T	ENST00000331366.5	-	4	367	c.271G>A	c.(271-273)Gag>Aag	p.E91K	CPNE8_ENST00000360449.3_Missense_Mutation_p.E79K	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	6	24	0	12	91	C2 1.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CGAAGATTCTCTCTTTCTTCA	0.308000													0	0	1	1	1	1	0.984634	7	27	0	13	1	7.009199e-01	4	7	0	13	3
ABCD2	225	broad.mit.edu	37	12	40010816	40010816	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:40010816A>C	ENST00000308666.3	-	2	1229	c.1094T>G	c.(1093-1095)aTc>aGc	p.I365S		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	31	48	0	97	365	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			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGTTGCAGTGATAATAGGTAT	0.338000													1	1	1	1	1	1	1.000000	31	55	0	109	0	0	0	0	0	109	5
LRRK2	120892	broad.mit.edu	37	12	40668394	40668394	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:40668394A>C	ENST00000298910.7	+	15	1724	c.1666A>C	c.(1666-1668)Aat>Cat	p.N556H	LRRK2_ENST00000343742.2_Missense_Mutation_p.N556H	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	15	52	0	45	556					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			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTTCATTGGAAATCCTGGGAT	0.318000													1	1	1	1	1	1	0.999934	15	55	0	49	0	0	0	0	0	49	5
LRRK2	120892	broad.mit.edu	37	12	40749930	40749930	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:40749930T>G	ENST00000298910.7	+	46	6842	c.6784T>G	c.(6784-6786)Ttt>Gtt	p.F2262V		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	4	10	0	10	2262					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			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACAAAAAAATTTTCTTTTGGT	0.289000													0	0	1	0	1	1	0.900136	4	11	0	10	0	0	0	0	0	10	2
PDZRN4	29951	broad.mit.edu	37	12	41967015	41967015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:41967015G>T	ENST00000298919.7	+	10	2042	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*	PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.E554*|PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.E812*			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	26	213	0	236	812							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAGGTTTTAGAAGGCAGCAA	0.502000													1	1	1	1	1	1	1.000000	30	233	0	258	0	0	0	0	0	258	5
ADAMTS20	80070	broad.mit.edu	37	12	43777415	43777415	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:43777415C>A	ENST00000389420.3	-	31	4742	c.4743G>T	c.(4741-4743)aaG>aaT	p.K1581N		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	9	22	0	26	1581	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	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)		TCCTGCAATTCTTGGATGTAA	0.368000													1	1	1	1	1	1	0.998225	10	26	0	27	0	0	0	0	0	27	5
NELL2	4753	broad.mit.edu	37	12	45169892	45169892	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:45169892G>A	ENST00000429094.2	-	8	1308	c.804C>T	c.(802-804)tgC>tgT	p.C268C	NELL2_ENST00000437801.2_Silent_p.C318C|NELL2_ENST00000395487.2_Silent_p.C267C|NELL2_ENST00000452445.2_Silent_p.C268C|NELL2_ENST00000551601.1_Silent_p.C267C|NELL2_ENST00000549027.1_Silent_p.C267C|NELL2_ENST00000333837.4_Silent_p.C291C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	19	49	0	60	268					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTTCACAATAGCACTGATCCA	0.458000													1	1	1	1	1	1	0.999999	20	52	0	67	1	1.993457e-01	2	1	0	67	5
ANO6	196527	broad.mit.edu	37	12	45740823	45740823	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:45740823G>A	ENST00000320560.8	+	4	500	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	ANO6_ENST00000425752.2_Missense_Mutation_p.E100K|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.E100K|ANO6_ENST00000423947.3_Missense_Mutation_p.E121K|ANO6_ENST00000441606.2_Missense_Mutation_p.E82K	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	4	51	0	70	100					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ACAAGCATACGAATCTAACCT	0.393000													0	0	1	0	0	1	0.892608	4	58	0	82	1	4.475453e-01	3	17	0	82	1
ARID2	196528	broad.mit.edu	37	12	46246346	46246346	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:46246346A>G	ENST00000334344.6	+	15	4612	c.4440A>G	c.(4438-4440)ggA>ggG	p.G1480G	ARID2_ENST00000444670.1_Silent_p.G1090G|ARID2_ENST00000422737.1_Silent_p.G1331G|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Silent_p.G88G	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	38	64	1	115	1480					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	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)		TTATACAGGGACATCAAATCA	0.448000			N, S, F		hepatocellular carcinoma								1	0	1	1	1	1	1.000000	38	67	1	122	1	7.007614e-01	2	4	1	122	4
AMIGO2	347902	broad.mit.edu	37	12	47471533	47471533	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:47471533T>C	ENST00000266581.4	-	2	1719	c.1253A>G	c.(1252-1254)tAt>tGt	p.Y418C	AMIGO2_ENST00000429635.1_Missense_Mutation_p.Y418C|AMIGO2_ENST00000550413.1_Missense_Mutation_p.Y418C|AMIGO2_ENST00000321382.3_Missense_Mutation_p.Y418C	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	27	34	0	48	418					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TGGAGTCAGATAGAGGTACAA	0.463000													1	1	1	1	1	1	1.000000	27	35	0	49	1	1	57	58	0	49	5
CCNT1	904	broad.mit.edu	37	12	49087243	49087243	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49087243A>C	ENST00000261900.3	-	9	1976	c.1754T>G	c.(1753-1755)tTt>tGt	p.F585C		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	30	49	0	77	585	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			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TGGATGATCAAACACAGCCCC	0.453000													1	1	1	1	1	1	1.000000	32	49	0	82	1	6.528881e-01	2	3	0	82	5
CCNT1	904	broad.mit.edu	37	12	49088048	49088048	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49088048C>T	ENST00000261900.3	-	9	1171	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	38	47	0	56	317					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			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GATGACTCTTCGGAGACTGGC	0.498000													1	1	1	1	1	1	1.000000	40	51	0	58	1	4.126215e-01	2	1	0	58	5
CCNT1	904	broad.mit.edu	37	12	49089871	49089871	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49089871T>G	ENST00000261900.3	-	7	839	c.617A>C	c.(616-618)aAg>aCg	p.K206T		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	17	42	0	50	206					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			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						ATTGGACCACTTGCAAGCCAG	0.502000													1	1	1	1	1	1	0.999994	18	46	0	57	0	3.286809e-01	0	3	0	57	5
CCDC65	85478	broad.mit.edu	37	12	49315203	49315203	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49315203G>A	ENST00000320516.4	+	8	1620	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	CCDC65_ENST00000266984.5_Intron|ARF3_ENST00000398092.4_Intron	NM_033124.4	NP_149115.2	Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	24	49	0	96	478										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						CCATCCAGGTGATAAACAACA	0.413000													1	1	1	1	1	1	1.000000	25	54	0	105	1	9.222918e-01	6	6	0	105	5
KMT2D	8085	broad.mit.edu	37	12	49432215	49432215	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49432215C>T	ENST00000301067.7	-	34	8923	c.8924G>A	c.(8923-8925)cGc>cAc	p.R2975H		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D	13	90	0	110																		AGGATTGGGGCGGCCAAGCTC	0.582000													1	1	1	1	1	1	0.999648	13	93	0	118	0	2.757914e-01	0	8	0	118	5
DHH	50846	broad.mit.edu	37	12	49484166	49484166	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49484166C>A	ENST00000266991.2	-	3	973	c.667G>T	c.(667-669)Gac>Tac	p.D223Y	RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	5	14	0	15	223					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						AAAACCCAGTCTCCGCGGTGC	0.677000													1	0	1	1	0	1	0.973097	6	15	0	17	0	0	0	0	0	17	3
TROAP	10024	broad.mit.edu	37	12	49725173	49725173	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:49725173G>A	ENST00000551245.1	+	13	2656	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K	TROAP_ENST00000547923.1_Missense_Mutation_p.E438K|TROAP_ENST00000257909.3_Missense_Mutation_p.E759K			Q12815	TROAP_HUMAN	trophinin associated protein	24	55	1	57	350					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TACATTACTCGAATGGCAGGA	0.642000											OREG0021792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1	1	1	1	0.999977	25	57	1	65	1	9.984841e-01	23	19	1	65	4
RACGAP1	29127	broad.mit.edu	37	12	50410486	50410486	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:50410486T>G	ENST00000434422.1	-	3	314	c.13A>C	c.(13-15)Atg>Ctg	p.M5L	RACGAP1_ENST00000547905.1_Missense_Mutation_p.M5L|RACGAP1_ENST00000551016.1_Missense_Mutation_p.M5L|RACGAP1_ENST00000427314.2_Missense_Mutation_p.M5L|RACGAP1_ENST00000454520.2_Missense_Mutation_p.M5L|RACGAP1_ENST00000312377.5_Missense_Mutation_p.M5L			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	49	90	0	108	5					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			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						ACATTCAGCATCATAGTATCC	0.463000													1	1	1	1	1	1	1.000000	54	98	0	119	1	9.999869e-01	18	18	0	119	5
LIMA1	51474	broad.mit.edu	37	12	50571158	50571158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:50571158C>A	ENST00000547825.1	-	5	2332	c.1063G>T	c.(1063-1065)Gaa>Taa	p.E355*	LIMA1_ENST00000341247.4_Nonsense_Mutation_p.E657*|LIMA1_ENST00000552823.1_Nonsense_Mutation_p.E497*|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.E496*|LIMA1_ENST00000552783.1_Nonsense_Mutation_p.E498*|LIMA1_ENST00000394943.3_Nonsense_Mutation_p.E658*|LIMA1_ENST00000552491.1_Nonsense_Mutation_p.E354*	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	89	190	0	242	657					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			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCTTTAGATTCTTTGTTTTGC	0.423000													1	1	1	1	1	1	1.000000	94	203	0	253	1	1	20	55	0	253	5
LARP4	113251	broad.mit.edu	37	12	50847289	50847289	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:50847289G>A	ENST00000398473.2	+	9	963	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	LARP4_ENST00000429001.3_Missense_Mutation_p.R290Q|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000293618.8_Missense_Mutation_p.R284Q|LARP4_ENST00000518444.1_Missense_Mutation_p.R283Q|LARP4_ENST00000518561.1_Missense_Mutation_p.R214Q|LARP4_ENST00000522085.1_Missense_Mutation_p.R284Q	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	23	54	0	88	284							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AATGGTTATCGATTAATGGAT	0.348000													1	1	1	1	1	1	1.000000	26	60	0	99	1	9.295301e-01	2	11	0	99	5
TMPRSS12	283471	broad.mit.edu	37	12	51279214	51279214	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:51279214G>A	ENST00000551456.1	+	4	883	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	TMPRSS12_ENST00000398458.3_Intron			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	31	61	0	77	201	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TCTGAAGCCAGAAGGGAACTT	0.328000													1	0	1	1	1	1	1.000000	32	65	0	80	0	0	0	0	0	80	4
SLC11A2	4891	broad.mit.edu	37	12	51399200	51399200	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:51399200C>T	ENST00000394904.3	-	4	339	c.290G>A	c.(289-291)cGt>cAt	p.R97H	SLC11A2_ENST00000547688.1_Missense_Mutation_p.R97H|SLC11A2_ENST00000546743.1_5'UTR|SLC11A2_ENST00000547198.1_Missense_Mutation_p.R68H|SLC11A2_ENST00000262051.7_Missense_Mutation_p.R68H|SLC11A2_ENST00000541174.2_Missense_Mutation_p.R68H|SLC11A2_ENST00000262052.5_Missense_Mutation_p.R68H|SLC11A2_ENST00000545993.2_Missense_Mutation_p.R64H|SLC11A2_ENST00000549193.1_5'UTR	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	9	30	0	49	68					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|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead 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	p.R68H(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CCAGAGTTTACGAAAGCTAAA	0.413000													1	1	1	1	1	1	0.998022	10	33	0	58	1	9.614420e-01	13	9	0	58	5
LETMD1	25875	broad.mit.edu	37	12	51442897	51442897	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:51442897A>C	ENST00000418425.2	+	2	222	c.203A>C	c.(202-204)aAt>aCt	p.N68T	LETMD1_ENST00000380123.2_Missense_Mutation_p.N68T|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000262055.4_Missense_Mutation_p.N68T|LETMD1_ENST00000550929.1_Missense_Mutation_p.N12T|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000547008.1_Missense_Mutation_p.N68T	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	8	25	0	33	68	Required and sufficient for mitochondrial import.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						AAAGCGATTAATGGGAAATAC	0.403000													1	1	1	1	1	1	0.996236	9	27	0	36	1	9.999486e-01	38	37	0	36	5
BIN2	51411	broad.mit.edu	37	12	51695879	51695879	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:51695879T>G	ENST00000267012.4	-	5	394	c.333A>C	c.(331-333)gaA>gaC	p.E111D	BIN2_ENST00000604560.1_Missense_Mutation_p.E84D|BIN2_ENST00000544402.1_Missense_Mutation_p.E85D|BIN2_ENST00000452142.2_Intron	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	4	36	0	39	111	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCTCGTAGTCTTCCCAAAGGA	0.463000													1	0	1	1	1	1	0.941311	5	40	0	42	0	1.861702e-02	0	2	0	42	4
SCN8A	6334	broad.mit.edu	37	12	52115650	52115650	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:52115650C>T	ENST00000354534.5	+	12	2134	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	SCN8A_ENST00000545061.1_Silent_p.I652I|SCN8A_ENST00000550891.1_Silent_p.I652I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	27	34	0	99	652					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TGTCCCTCATCGGCGGCCCCG	0.622000													1	1	1	1	1	1	1.000000	41	52	0	109	0	0	1	0	0	109	5
SCN8A	6334	broad.mit.edu	37	12	52183109	52183109	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:52183109C>A	ENST00000354534.5	+	24	4504	c.4326C>A	c.(4324-4326)atC>atA	p.I1442I	SCN8A_ENST00000545061.1_Silent_p.I1401I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	8	52	0	49	1442					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACATGTACATCTATTTTGTCA	0.398000													1	1	1	1	1	1	0.991006	8	54	0	49	0	0	0	0	0	49	5
KRT6C	286887	broad.mit.edu	37	12	52865252	52865252	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:52865252C>A	ENST00000252250.6	-	4	912	c.865G>T	c.(865-867)Gac>Tac	p.D289Y		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	11	38	0	62	289	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTGAGAGTGTCTGCCTTGGCT	0.493000													1	1	1	1	1	1	0.999478	12	43	0	66	0	0	0	0	0	66	5
KRT76	51350	broad.mit.edu	37	12	53167390	53167390	+	Missense_Mutation	SNP	C	C	A	rs148390412		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53167390C>A	ENST00000332411.2	-	3	905	c.852G>T	c.(850-852)gaG>gaT	p.E284D		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	25	42	0	59	284	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.E284E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAAACTCATTCTCTGCGGCAG	0.498000													1	1	1	1	1	1	1.000000	26	48	0	63	0	0	0	0	0	63	5
SP7	121340	broad.mit.edu	37	12	53722254	53722254	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53722254G>A	ENST00000536324.2	-	3	1255	c.972C>T	c.(970-972)ttC>ttT	p.F324F	SP7_ENST00000537210.2_Silent_p.F306F|SP7_ENST00000303846.3_Silent_p.F324F	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	43	57	0	121	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						AGTTGCAGACGAAGGGCCTCT	0.617000													1	1	1	1	1	1	1.000000	47	61	0	133	0	0	0	0	0	133	5
SP7	121340	broad.mit.edu	37	12	53722395	53722395	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53722395C>T	ENST00000536324.2	-	3	1114	c.831G>A	c.(829-831)gaG>gaA	p.E277E	SP7_ENST00000537210.2_Silent_p.E259E|SP7_ENST00000303846.3_Silent_p.E277E	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	12	29	0	39	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GCCGCTCTAGCTCCTGGCAAT	0.662000													1	1	1	1	1	1	0.999557	12	32	0	40	0	0	0	0	0	40	5
SP1	0	broad.mit.edu	37	12	53777010	53777010	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53777010A>C	ENST00000426431.2	+	3	1318	c.1258A>C	c.(1258-1260)Act>Cct	p.T420P	SP1_ENST00000327443.4_Missense_Mutation_p.T427P	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	50	87	0	105	427	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			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GACCTTTACAACTCAAGCCAT	0.557000													1	1	1	1	1	1	1.000000	54	89	0	110	1	9.999114e-01	12	16	0	110	5
NPFF	8620	broad.mit.edu	37	12	53901163	53901163	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:53901163G>T	ENST00000267017.3	-	1	259	c.96C>A	c.(94-96)ctC>ctA	p.L32L	RP11-793H13.10_ENST00000591834.1_Intron	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor	34	54	0	100	32					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TCACCGCGGAGAGCTGGTCTT	0.567000													1	1	1	1	1	1	1.000000	36	63	0	118	1	5.983468e-01	3	2	0	118	5
CALCOCO1	57658	broad.mit.edu	37	12	54110096	54110096	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54110096T>C	ENST00000548263.1	-	8	1001	c.953A>G	c.(952-954)aAa>aGa	p.K318R	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.K318R|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.K318R|CALCOCO1_ENST00000430117.2_Intron			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	37	52	0	84	318					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			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACCTTGTCTTTCAGTCGCTG	0.572000													1	1	1	1	1	1	1.000000	40	55	0	91	1	1	25	36	0	91	5
CALCOCO1	57658	broad.mit.edu	37	12	54115392	54115392	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54115392G>T	ENST00000548263.1	-	6	665	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	CALCOCO1_ENST00000262059.4_Missense_Mutation_p.S206Y|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.S206Y|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.S173Y			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	7	327	0	335	206					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			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						ATGGGACCGGGAAATCCCCTG	0.542000													0	0	1	0	0	1	0.980865	7	347	0	361	1	3.665073e-01	2	56	0	361	1
CBX5	23468	broad.mit.edu	37	12	54645982	54645982	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54645982T>C	ENST00000209875.4	-	3	303	c.167A>G	c.(166-168)aAc>aGc	p.N56S	CBX5_ENST00000439541.2_Missense_Mutation_p.N56S|CBX5_ENST00000550411.1_Missense_Mutation_p.N56S	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	16	27	0	32	56	Chromo 1.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						GCAATCCAAGTTTTTCTCAGG	0.368000													1	1	1	1	1	1	0.999982	16	30	0	35	1	9.999980e-01	23	35	0	35	5
PDE1B	0	broad.mit.edu	37	12	54963137	54963137	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:54963137A>G	ENST00000243052.3	+	4	833	c.397A>G	c.(397-399)Atc>Gtc	p.I133V	PDE1B_ENST00000538346.1_Missense_Mutation_p.I92V|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.I113V	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	20	38	0	55	133					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GCAGGCTGGGATCTTCGTGGA	0.637000													1	1	1	1	1	1	0.999999	20	45	0	62	0	0	0	1	0	62	5
LACRT	90070	broad.mit.edu	37	12	55026990	55026990	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:55026990G>A	ENST00000257867.4	-	2	139	c.86C>T	c.(85-87)gCt>gTt	p.A29V	LACRT_ENST00000547511.1_Missense_Mutation_p.A29V	NM_033277.1	NP_150593.1	Q9GZZ8	LACRT_HUMAN	lacritin	64	108	0	198	29					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						GGCAGGATCAGCACCCGTCGA	0.597000													1	1	1	1	1	1	1.000000	72	120	0	222	0	0	0	0	0	222	5
TESPA1	9840	broad.mit.edu	37	12	55356262	55356262	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:55356262G>A	ENST00000524622.1	-	7	1667	c.1006C>T	c.(1006-1008)Cgt>Tgt	p.R336C	TESPA1_ENST00000449076.1_Missense_Mutation_p.R474C|TESPA1_ENST00000531122.1_Missense_Mutation_p.R336C|TESPA1_ENST00000316577.8_Missense_Mutation_p.R474C|TESPA1_ENST00000532804.1_Missense_Mutation_p.R336C	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	55	119	0	199	474																	AAAGACCGACGCAGTTCTGGT	0.517000													1	1	1	1	1	1	1.000000	60	129	0	220	0	0	0	1	0	220	5
OR6C70	390327	broad.mit.edu	37	12	55863898	55863898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:55863898C>A	ENST00000327335.4	-	1	24	c.25G>T	c.(25-27)Gaa>Taa	p.E9*	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	15	27	0	30	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						AGAATAAATTCTATCTGCCTT	0.353000													1	1	1	1	1	1	0.999996	18	33	0	32	0	0	0	0	0	32	5
OR10P1	121130	broad.mit.edu	37	12	56031002	56031002	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56031002C>T	ENST00000309675.2	+	1	359	c.327C>T	c.(325-327)ggC>ggT	p.G109G		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	19	40	0	74	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TTGTCCTGGGCATCTCGGAGT	0.617000													1	0	1	1	1	1	0.999998	19	41	0	76	0	0	0	0	0	76	4
OR10P1	121130	broad.mit.edu	37	12	56031269	56031269	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56031269C>A	ENST00000309675.2	+	1	626	c.594C>A	c.(592-594)atC>atA	p.I198I		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	52	79	0	115	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						GGAGCGAGATCTCCGTGATGA	0.537000													1	1	1	1	1	1	1.000000	55	84	0	120	0	0	0	0	0	120	5
ITGA7	3679	broad.mit.edu	37	12	56090195	56090195	+	Missense_Mutation	SNP	G	G	A	rs139024853		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56090195G>A	ENST00000257880.7	-	14	2110	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	ITGA7_ENST00000553804.1_Missense_Mutation_p.R591W|ITGA7_ENST00000347027.6_Missense_Mutation_p.R581W|ITGA7_ENST00000394230.2_Missense_Mutation_p.R591W|ITGA7_ENST00000555728.1_Missense_Mutation_p.R631W|ITGA7_ENST00000452168.2_Missense_Mutation_p.R494W|ITGA7_ENST00000257879.6_Missense_Mutation_p.R587W|ITGA7_ENST00000394229.2_Missense_Mutation_p.R587W			Q13683	ITA7_HUMAN	integrin, alpha 7	4	6	0	10	631					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACAATGGCCCGAAGCTTGTCT	0.597000													0	0	0	1	1	1	0.955310	5	6	0	10	1	9.972486e-01	14	10	0	10	2
GDF11	0	broad.mit.edu	37	12	56143605	56143605	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56143605A>G	ENST00000257868.5	+	3	1200	c.1163A>G	c.(1162-1164)aAg>aGg	p.K388R		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	20	182	0	248	388					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						TTCAATGACAAGCAGCAGATT	0.557000													1	1	1	1	0	1	0.999998	21	204	0	276	0	5.799648e-01	1	19	0	276	4
DGKA	1606	broad.mit.edu	37	12	56331252	56331252	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56331252C>A	ENST00000331886.5	+	4	653	c.199C>A	c.(199-201)Ccc>Acc	p.P67T	DGKA_ENST00000394147.1_Missense_Mutation_p.P67T|DGKA_ENST00000551156.1_Missense_Mutation_p.P67T	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	7	84	0	76	67					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			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	GGATAATGTTCCCAGACACCT	0.463000													1	1	1	1	0	1	0.990393	8	88	0	80	0	1.348802e-01	1	6	0	80	4
MYL6	4637	broad.mit.edu	37	12	56554045	56554045	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:56554045A>G	ENST00000551589.1	+	5	401	c.368A>G	c.(367-369)gAa>gGa	p.E123G	MYL6_ENST00000548400.1_Missense_Mutation_p.E87G|MYL6_ENST00000293422.5_Missense_Mutation_p.E124G|MYL6_ENST00000550697.1_Missense_Mutation_p.E123G|MYL6_ENST00000548293.1_Missense_Mutation_p.E123G|MYL6_ENST00000548580.1_Missense_Mutation_p.E75G|MYL6_ENST00000547408.1_Missense_Mutation_p.E123G|MYL6_ENST00000547649.1_Missense_Mutation_p.E123G|MYL6_ENST00000536128.1_Missense_Mutation_p.E216G|MYL6_ENST00000549017.1_Missense_Mutation_p.E19G|MYL6_ENST00000348108.4_Missense_Mutation_p.E124G|MYL6_ENST00000549566.1_Missense_Mutation_p.E168G			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	20	40	0	60	123	EF-hand 3.				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			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			ATGACAGAGGAAGAAGTAGAG	0.488000													1	1	1	1	1	1	1.000000	24	47	0	67	1	1	1691	2246	0	67	5
ATP5B	506	broad.mit.edu	37	12	57039021	57039021	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57039021T>C	ENST00000262030.3	-	2	294	c.244A>G	c.(244-246)Att>Gtt	p.I82V	ATP5B_ENST00000552919.1_Missense_Mutation_p.I82V	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	14	78	0	110	82					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			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCATTTAGAATTGGTGGTAGT	0.542000													1	1	1	1	1	1	0.999833	14	82	0	118	1	1	138	685	0	118	5
NACA	4666	broad.mit.edu	37	12	57114403	57114403	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57114403G>T	ENST00000454682.1	-	3	1192	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S304Y|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	25	33	0	60	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAGCCCAGAGAAATGGGAAA	0.483000			T	BCL6	NHL								1	0	1	1	1	1	0.999995	26	35	1	60	0	1	2	1	1	60	4
MYO1A	4640	broad.mit.edu	37	12	57431423	57431423	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57431423T>C	ENST00000442789.2	-	20	2251	c.1964A>G	c.(1963-1965)gAa>gGa	p.E655G	MYO1A_ENST00000300119.3_Missense_Mutation_p.E655G|MYO1A_ENST00000544473.1_Missense_Mutation_p.E493G	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	85	157	0	229	655	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			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTCAACACCTTCCCTATGGAA	0.507000													1	1	1	1	0	1	1.000000	91	166	0	241	0	0	0	0	0	241	4
LRP1	4035	broad.mit.edu	37	12	57588394	57588394	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57588394C>T	ENST00000243077.3	+	50	8569	c.8103C>T	c.(8101-8103)ttC>ttT	p.F2701F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	43	53	0	106	2701	LDL-receptor class A 15.				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.F2701F(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAATTACTTCGCCTGCCCTA	0.632000													1	1	1	1	1	1	1.000000	45	57	0	110	1	9.997541e-01	6	15	0	110	5
STAC3	246329	broad.mit.edu	37	12	57642498	57642498	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57642498G>A	ENST00000332782.2	-	4	624	c.423C>T	c.(421-423)ttC>ttT	p.F141F	STAC3_ENST00000554578.1_Silent_p.F102F|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	192	364	1	604	141					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CGATCTTGCCGAAGCATCTCT	0.542000													1	1	1	1	1	1	1.000000	219	405	1	698	0	8.312889e-01	1	7	1	698	5
GLI1	2735	broad.mit.edu	37	12	57865362	57865362	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57865362A>G	ENST00000228682.2	+	12	2930	c.2839A>G	c.(2839-2841)Aca>Gca	p.T947A	GLI1_ENST00000543426.1_Missense_Mutation_p.T819A|GLI1_ENST00000546141.1_Missense_Mutation_p.T906A	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	32	59	0	98	947					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			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCCAGTGAACACATATGGACC	0.547000													1	1	1	1	1	1	1.000000	34	63	0	104	0	4.427490e-01	0	4	0	104	5
ARHGAP9	64333	broad.mit.edu	37	12	57867888	57867888	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57867888G>T	ENST00000393797.2	-	19	2317	c.2125C>A	c.(2125-2127)Ctc>Atc	p.L709I	ARHGAP9_ENST00000356411.2_Missense_Mutation_p.L638I|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.L698I|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.L619I|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.L435I|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.L619I			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	15	22	0	47	638	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCTCCCGGAGAAAAAGCTTC	0.562000													1	1	1	1	1	1	0.999995	17	22	0	52	0	8.046423e-01	0	6	0	52	5
DDIT3	1649	broad.mit.edu	37	12	57910667	57910667	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:57910667G>A	ENST00000551116.1	-	4	771	c.504C>T	c.(502-504)atC>atT	p.I168I	DDIT3_ENST00000547303.1_Silent_p.I145I|DDIT3_ENST00000346473.3_Silent_p.I145I|DDIT3_ENST00000552740.1_Silent_p.I168I	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	40	96	0	103	145					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						TCAGGCGCTCGATTTCCTGCT	0.542000			T	FUS	liposarcoma								1	1	1	1	1	1	1.000000	43	101	0	109	1	1	60	72	0	109	5
DTX3	196403	broad.mit.edu	37	12	58002452	58002452	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58002452A>C	ENST00000548198.1	+	4	2404	c.900A>C	c.(898-900)acA>acC	p.T300T	DTX3_ENST00000548804.1_Silent_p.T300T|DTX3_ENST00000337737.3_Silent_p.T300T|DTX3_ENST00000551632.1_Silent_p.T303T			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	10	25	0	45	300					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CCATGACCACAGGGAGACCGA	0.597000													1	1	1	1	1	1	0.999166	11	26	0	49	1	9.999992e-01	38	56	0	49	5
ARHGEF25	115557	broad.mit.edu	37	12	58010626	58010626	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58010626A>C	ENST00000286494.4	+	15	2152	c.1692A>C	c.(1690-1692)aaA>aaC	p.K564N	ARHGEF25_ENST00000333972.7_Missense_Mutation_p.K603N|ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	56	94	0	155	564					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CAACTCCAAAAACCCCTCCCT	0.537000													1	1	1	1	1	1	1.000000	65	103	0	181	1	9.999998e-01	12	32	0	181	5
AVIL	10677	broad.mit.edu	37	12	58197112	58197112	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58197112T>C	ENST00000537081.1	-	15	1858	c.1859A>G	c.(1858-1860)cAa>cGa	p.Q620R	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000550083.1_5'UTR|AVIL_ENST00000257861.3_Missense_Mutation_p.Q627R			O75366	AVIL_HUMAN	advillin	58	78	0	155	627	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GACAACGAATTGGCCGGTCTT	0.478000											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	65	83	0	171	1	8.822537e-01	4	3	0	171	5
AVIL	10677	broad.mit.edu	37	12	58209764	58209764	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:58209764T>G	ENST00000257861.3	-	1	490	c.60A>C	c.(58-60)agA>agC	p.R20S		NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	16	35	0	30	20	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCACCTCTATTCTCCAGACAA	0.572000													1	1	1	1	1	1	0.999990	17	38	0	33	0	0	1	0	0	33	5
LRIG3	121227	broad.mit.edu	37	12	59274382	59274382	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:59274382T>G	ENST00000320743.3	-	13	2068	c.1782A>C	c.(1780-1782)aaA>aaC	p.K594N	LRIG3_ENST00000379141.4_Missense_Mutation_p.K534N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	5	41	0	51	594	Ig-like C2-type 1.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TAAGCTTGGCTTTGACAGAGT	0.393000			T	ROS1	NSCLC								1	0	1	1	1	1	0.940987	5	44	0	57	1	7.653256e-01	3	23	0	57	4
MON2	23041	broad.mit.edu	37	12	62931428	62931428	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:62931428C>T	ENST00000393630.3	+	16	2451	c.2060C>T	c.(2059-2061)gCg>gTg	p.A687V	MON2_ENST00000393632.2_Missense_Mutation_p.A687V|MON2_ENST00000280379.6_Missense_Mutation_p.A687V|MON2_ENST00000546600.1_Missense_Mutation_p.A687V|MON2_ENST00000393629.2_Missense_Mutation_p.A687V|MON2_ENST00000552115.1_Missense_Mutation_p.A687V|MON2_ENST00000552738.1_Missense_Mutation_p.A664V	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	24	49	0	71	687					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CTTAACTTGGCGCATTGCCAT	0.338000													1	0	1	1	1	1	1.000000	25	53	0	87	1	7.777611e-01	2	6	0	87	4
LEMD3	23592	broad.mit.edu	37	12	65639662	65639662	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:65639662C>T	ENST00000308330.2	+	12	2541	c.2515C>T	c.(2515-2517)Ctg>Ttg	p.L839L		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	22	53	0	95	839	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			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TGTTAAATGTCTGTCTCCAGA	0.299000													1	1	1	1	1	1	1.000000	25	56	0	111	1	9.897177e-01	5	15	0	111	5
HELB	92797	broad.mit.edu	37	12	66709096	66709096	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:66709096A>C	ENST00000247815.4	+	6	1992	c.1933A>C	c.(1933-1935)Aat>Cat	p.N645H		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	20	38	0	40	645					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		TAAGTCAAGAAATTGTGCTAT	0.353000													1	1	1	1	1	1	1.000000	24	43	0	42	0	0	0	0	0	42	5
CAND1	55832	broad.mit.edu	37	12	67700159	67700159	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:67700159A>C	ENST00000545606.1	+	10	3148	c.2711A>C	c.(2710-2712)aAa>aCa	p.K904T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	14	18	0	55	904					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			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)		AGTCAACCCAAAAGGCAGTAT	0.413000													1	1	1	1	1	1	0.999947	14	18	0	58	1	1	53	69	0	58	5
DYRK2	8445	broad.mit.edu	37	12	68051084	68051084	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:68051084C>T	ENST00000344096.3	+	3	810	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	DYRK2_ENST00000393555.3_Missense_Mutation_p.R60W	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	23	37	0	60	133					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			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			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)		CATTCATAGACGGCAGGGGAG	0.542000													1	1	1	1	1	1	1.000000	23	37	0	62	1	9.999338e-01	13	19	0	62	5
NUP107	57122	broad.mit.edu	37	12	69084386	69084386	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:69084386C>A	ENST00000539906.1	+	4	320	c.76C>A	c.(76-78)Ctt>Att	p.L26I	NUP107_ENST00000378905.2_Intron|NUP107_ENST00000229179.4_Intron			P57740	NU107_HUMAN	nucleoporin 107kDa	20	40	0	55	0					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		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACTTTAGGTTCTTTCTACCAA	0.378000													1	0	1	1	1	1	1.000000	21	44	0	56	0	0	0	0	0	56	4
NUP107	57122	broad.mit.edu	37	12	69096538	69096538	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:69096538G>T	ENST00000229179.4	+	8	1035	c.703G>T	c.(703-705)Gaa>Taa	p.E235*	NUP107_ENST00000378905.2_Nonsense_Mutation_p.E84*|NUP107_ENST00000539906.1_Nonsense_Mutation_p.E206*	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	20	34	0	64	235					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		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTCTGCATTAGAAGAGGAAAG	0.274000													1	1	1	1	1	1	1.000000	21	34	0	72	1	9.999629e-01	2	33	0	72	5
CPSF6	11052	broad.mit.edu	37	12	69650589	69650589	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:69650589T>C	ENST00000435070.2	+	4	597	c.487T>C	c.(487-489)Ttc>Ctc	p.F163L	CPSF6_ENST00000456847.3_Missense_Mutation_p.F163L|CPSF6_ENST00000266679.8_Missense_Mutation_p.F163L|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	18	43	0	54	163					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	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)			CAATAAACAGTTCCTGAGTCA	0.358000													1	1	1	1	1	1	0.999999	21	52	0	61	1	1	26	76	0	61	5
FRS2	10818	broad.mit.edu	37	12	69968311	69968311	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:69968311A>T	ENST00000299293.2	+	10	1613	c.1103A>T	c.(1102-1104)gAa>gTa	p.E368V	FRS2_ENST00000550389.1_Missense_Mutation_p.E368V|FRS2_ENST00000549921.1_Missense_Mutation_p.E368V|FRS2_ENST00000397997.2_Missense_Mutation_p.E368V	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	35	56	0	96	368					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			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	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)			AGTAGGGATGAAGATGACAAT	0.383000													1	1	1	1	1	1	1.000000	36	64	0	109	0	6.973621e-01	1	5	0	109	5
BEST3	144453	broad.mit.edu	37	12	70048879	70048879	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:70048879G>T	ENST00000330891.5	-	10	2041	c.1815C>A	c.(1813-1815)aaC>aaA	p.N605K	BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.N392K|BEST3_ENST00000553096.1_Missense_Mutation_p.N499K	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	19	41	0	55	605						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	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)			CTGGACTTAGGTTTCCCAGGG	0.483000													1	1	1	1	1	1	1.000000	25	44	0	59	0	1.373239e-01	1	1	0	59	5
RAB3IP	117177	broad.mit.edu	37	12	70149248	70149248	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:70149248G>A	ENST00000550536.1	+	2	565	c.108G>A	c.(106-108)ccG>ccA	p.P36P	RAB3IP_ENST00000378815.6_Silent_p.P20P|RAB3IP_ENST00000362025.5_Silent_p.P36P|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000247833.7_Silent_p.P20P|RAB3IP_ENST00000483530.2_Silent_p.P20P	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	22	43	0	78	36					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTACTTCTCCGGACCTTCTTG	0.443000													1	1	1	1	1	1	1.000000	24	48	0	86	1	9.999984e-01	24	30	0	86	5
PTPRB	0	broad.mit.edu	37	12	70946656	70946656	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:70946656T>C	ENST00000334414.6	-	21	5332	c.5288A>G	c.(5287-5289)aAc>aGc	p.N1763S	PTPRB_ENST00000550857.1_Missense_Mutation_p.N1455S|PTPRB_ENST00000451516.2_Missense_Mutation_p.N1455S|PTPRB_ENST00000538708.1_Missense_Mutation_p.N1455S|PTPRB_ENST00000261266.5_Missense_Mutation_p.N1545S|PTPRB_ENST00000550358.1_Missense_Mutation_p.N1675S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	30	49	0	75	1545	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	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)			AAGCTTAATGTTAAAACTCTT	0.463000													1	1	1	1	1	1	1.000000	32	55	0	82	1	9.446132e-01	5	6	0	82	5
PTPRR	5801	broad.mit.edu	37	12	71155283	71155283	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71155283A>G	ENST00000283228.2	-	4	1047	c.595T>C	c.(595-597)Tcc>Ccc	p.S199P	PTPRR_ENST00000342084.4_Missense_Mutation_p.S87P	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	20	68	0	133	199					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			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			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)		CCAAACTGGGATAAACTTTGA	0.383000													1	1	1	1	1	1	0.999999	21	73	0	151	0	0	0	0	0	151	5
LGR5	8549	broad.mit.edu	37	12	71950416	71950416	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71950416G>T	ENST00000266674.5	+	6	973	c.662G>T	c.(661-663)aGa>aTa	p.R221I	LGR5_ENST00000536515.1_Missense_Mutation_p.R149I|LGR5_ENST00000540815.2_Missense_Mutation_p.R221I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	25	51	0	107	221						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CATAACAATAGAATCCACTCC	0.388000													1	1	1	1	1	1	1.000000	26	59	0	126	0	0	0	1	0	126	5
LGR5	8549	broad.mit.edu	37	12	71978130	71978130	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71978130C>T	ENST00000266674.5	+	18	2651	c.2340C>T	c.(2338-2340)tgC>tgT	p.C780C	LGR5_ENST00000536515.1_Silent_p.C708C|LGR5_ENST00000540815.2_Silent_p.C756C			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	37	86	0	111	780						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCCTAAACTGCCCTGTGGCTT	0.428000													1	1	1	1	1	1	1.000000	40	94	0	125	0	5.790762e-01	1	5	0	125	5
ZFC3H1	196441	broad.mit.edu	37	12	72037952	72037952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:72037952G>A	ENST00000378743.3	-	5	1784	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	4	16	0	18	476					RNA processing	intracellular	metal ion binding	p.R476*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAGAGATCTCGAATTTTTCTG	0.363000													1	1	1	1	0	1	0.896421	4	19	0	20	0	1.914530e-01	1	3	0	20	4
TRHDE	29953	broad.mit.edu	37	12	72771853	72771853	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:72771853G>T	ENST00000261180.4	+	3	1228	c.1132G>T	c.(1132-1134)Gaa>Taa	p.E378*		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	14	53	0	59	378					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GAGATTAATAGAATTTTATGA	0.328000													1	1	1	1	1	1	0.999985	17	57	0	70	0	0	0	0	0	70	5
TRHDE	29953	broad.mit.edu	37	12	72955964	72955964	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:72955964A>C	ENST00000261180.4	+	8	1769	c.1673A>C	c.(1672-1674)aAg>aCg	p.K558T	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	6	11	0	17	558					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCATTCATAAGTATGGTAAT	0.269000													1	0	1	1	1	1	0.974012	6	13	0	20	0	0	0	0	0	20	4
KCNC2	3747	broad.mit.edu	37	12	75444659	75444659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:75444659G>A	ENST00000549446.1	-	3	1806	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	KCNC2_ENST00000350228.2_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548513.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000540018.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000341669.3_Nonsense_Mutation_p.R376*|KCNC2_ENST00000550433.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000298972.1_Nonsense_Mutation_p.R376*|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000393288.2_Nonsense_Mutation_p.R376*	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	8	48	0	65	376					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R376*(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GTACTAGCTCGAAGAGTATGT	0.453000													1	1	1	1	1	1	0.995241	9	62	0	67	0	0	0	0	0	67	5
NAV3	89795	broad.mit.edu	37	12	78225316	78225316	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:78225316G>A	ENST00000397909.2	+	1	248	c.75G>A	c.(73-75)ccG>ccA	p.P25P	NAV3_ENST00000536525.2_Silent_p.P25P|NAV3_ENST00000266692.7_Silent_p.P25P|NAV3_ENST00000228327.6_Silent_p.P25P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	58	121	0	211	25						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGCTCTTCCGATACCAAATC	0.463000										HNSCC(70;0.22)			1	1	1	1	1	1	1.000000	60	126	0	223	0	0	0	0	0	223	5
NAV3	89795	broad.mit.edu	37	12	78562559	78562559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:78562559G>T	ENST00000397909.2	+	24	5067	c.4894G>T	c.(4894-4896)Gaa>Taa	p.E1632*	NAV3_ENST00000536525.2_Nonsense_Mutation_p.E1632*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.E1455*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.E1632*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	23	48	0	76	1632						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAACTAAGAGAAACCATTGA	0.403000										HNSCC(70;0.22)			1	1	1	1	1	1	1.000000	26	53	0	86	0	0	0	0	0	86	5
NAV3	89795	broad.mit.edu	37	12	78582038	78582038	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:78582038C>T	ENST00000397909.2	+	32	5974	c.5801C>T	c.(5800-5802)tCt>tTt	p.S1934F	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.S1912F|NAV3_ENST00000266692.7_Missense_Mutation_p.S1735F|NAV3_ENST00000228327.6_Missense_Mutation_p.S1912F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	19	26	0	50	1934						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GACCAAAAATCTCAGGCATAT	0.313000										HNSCC(70;0.22)			1	1	1	1	1	1	1.000000	23	30	0	61	0	0	1	0	0	61	5
SYT1	6857	broad.mit.edu	37	12	79679637	79679637	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:79679637C>A	ENST00000261205.4	+	5	894	c.237C>A	c.(235-237)atC>atA	p.I79I	SYT1_ENST00000552744.1_Silent_p.I79I|SYT1_ENST00000457153.2_Silent_p.I79I|SYT1_ENST00000393240.3_Silent_p.I79I	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	15	42	0	61	79					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			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GCTTTTGTATCTGTAAGAAAT	0.403000													1	1	1	1	1	1	0.999942	15	46	0	63	1	2.714452e-01	3	1	0	63	5
OTOGL	283310	broad.mit.edu	37	12	80733009	80733009	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:80733009G>A	ENST00000458043.2	+	42	4994	c.4988G>A	c.(4987-4989)cGa>cAa	p.R1663Q	OTOGL_ENST00000547103.1_Missense_Mutation_p.R1651Q	NM_173591.3	NP_775862.3			otogelin-like	70	113	0	209									p.R28L(1)|p.R1663L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTGGCTTCCGATTTAACTTG	0.353000													1	1	1	1	1	1	1.000000	82	131	0	262	0	0	0	0	0	262	5
PPFIA2	8499	broad.mit.edu	37	12	81741356	81741356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:81741356G>A	ENST00000550584.2	-	17	2483	c.2188C>T	c.(2188-2190)Cga>Tga	p.R730*	PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.R297*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.R577*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.R631*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R712*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R712*|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R730*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.R656*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	40	86	1	185	656										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCAGGGCTTCGAGGGGTGAGC	0.522000													1	0	1	1	1	1	1.000000	47	96	1	216	0	0	0	0	1	216	4
PPFIA2	8499	broad.mit.edu	37	12	81777837	81777837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:81777837C>A	ENST00000550584.2	-	8	1244	c.949G>T	c.(949-951)Gaa>Taa	p.E317*	PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.E317*|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E164*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E317*|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E218*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E299*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E299*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E317*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E243*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	7	34	0	34	243										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTGTTCATTTCTTCTGTTTTA	0.433000													1	0	1	1	1	1	0.983479	7	40	0	40	0	0	0	0	0	40	4
SLC6A15	55117	broad.mit.edu	37	12	85285788	85285788	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85285788C>A	ENST00000450363.3	-	2	570	c.112G>T	c.(112-114)Gaa>Taa	p.E38*	SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000266682.5_Nonsense_Mutation_p.E38*|SLC6A15_ENST00000551388.1_Intron	NM_018057.6	NP_060527.2	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	21	126	0	131	38					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ACAATTAGTTCACTTGTCTTA	0.383000													1	1	1	1	1	1	0.999999	21	137	0	142	0	9.591570e-02	1	3	0	142	5
LRRIQ1	84125	broad.mit.edu	37	12	85439838	85439838	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85439838A>C	ENST00000393217.2	+	5	438	c.377A>C	c.(376-378)aAa>aCa	p.K126T		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	17	23	0	38	126										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATGAGAAGTAAAACCGATTGT	0.348000													1	1	1	1	1	1	0.999999	19	24	0	39	1	8.131690e-01	4	2	0	39	5
LRRIQ1	84125	broad.mit.edu	37	12	85450583	85450583	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85450583G>T	ENST00000393217.2	+	8	2073	c.2012G>T	c.(2011-2013)aGa>aTa	p.R671I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	14	32	0	60	671										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAGGCAAAAGAAATGACCAA	0.363000													1	1	1	1	1	1	0.999903	14	33	0	66	0	0	1	0	0	66	5
ALX1	8092	broad.mit.edu	37	12	85677427	85677427	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:85677427C>T	ENST00000316824.3	+	2	459	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	30	59	0	92	102					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			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CTGTAACAGTCTCCGAATGTC	0.468000													1	1	1	1	1	1	1.000000	32	62	0	96	1	2.754050e-01	3	0	0	96	5
NTS	4922	broad.mit.edu	37	12	86276047	86276047	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:86276047A>C	ENST00000256010.6	+	4	514	c.407A>C	c.(406-408)aAg>aCg	p.K136T	NTS_ENST00000551529.1_Missense_Mutation_p.K61T	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	16	35	0	70	136					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity			large_intestine(2)|lung(6)	8						AAAAATGGAAAGGAAGAAGTC	0.318000													1	1	1	1	1	1	0.999990	17	37	0	71	1	1	80	41	0	71	5
MGAT4C	25834	broad.mit.edu	37	12	86383317	86383317	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:86383317T>G	ENST00000604798.1	-	6	1212	c.8A>C	c.(7-9)aAa>aCa	p.K3T	MGAT4C_ENST00000548651.1_Missense_Mutation_p.K3T|MGAT4C_ENST00000332156.1_Missense_Mutation_p.K3T|MGAT4C_ENST00000393205.2_Missense_Mutation_p.K32T|MGAT4C_ENST00000549405.2_Missense_Mutation_p.K3T|MGAT4C_ENST00000552435.2_Missense_Mutation_p.K3T|MGAT4C_ENST00000552808.2_Missense_Mutation_p.K3T			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	9	16	0	18	3					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			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTGATGAAATTTAAACATTCT	0.318000													1	1	1	1	1	1	0.998664	10	16	0	22	0	1.625616e-01	1	1	0	22	5
CEP290	80184	broad.mit.edu	37	12	88465107	88465107	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:88465107C>A	ENST00000552810.1	-	43	6318	c.5975G>T	c.(5974-5976)aGa>aTa	p.R1992I	CEP290_ENST00000309041.7_Missense_Mutation_p.R1994I|CEP290_ENST00000397838.3_Missense_Mutation_p.R1052I|CEP290_ENST00000547691.2_Missense_Mutation_p.R1052I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	13	18	0	15	1992					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			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTCAAGATTTCTCTTTTTTAA	0.348000													0	1	1	1	1	1	0.999947	14	18	0	15	1	9.895645e-01	2	12	0	15	4
TMTC3	160418	broad.mit.edu	37	12	88542259	88542259	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:88542259T>C	ENST00000266712.6	+	2	387	c.167T>C	c.(166-168)tTc>tCc	p.F56S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	10	15	0	31	56						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CAAAATGACTTCTGGGGAACC	0.313000													1	1	1	1	1	1	0.998664	10	16	0	34	0	3.467980e-01	1	2	0	34	5
KITLG	4254	broad.mit.edu	37	12	88910206	88910206	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:88910206C>A	ENST00000347404.5	-	5	997	c.425G>T	c.(424-426)aGa>aTa	p.R142I	KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Missense_Mutation_p.R142I|KITLG_ENST00000378535.4_5'UTR	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	14	37	0	46	142					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			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						ATTAAAAATTCTAAAGAATTC	0.343000									Testicular Cancer, Familial Clustering of				1	1	1	1	1	1	0.999894	14	37	0	46	1	9.441569e-01	11	5	0	46	5
POC1B-GALNT4	0	broad.mit.edu	37	12	89917476	89917476	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:89917476A>C	ENST00000548729.1	-	3	1144	c.842T>G	c.(841-843)tTt>tGt	p.F281C	POC1B-GALNT4_ENST00000547474.1_Intron|POC1B_ENST00000313546.3_Intron|POC1B_ENST00000393179.4_Intron|POC1B-GALNT4_ENST00000413530.1_Intron|POC1B_ENST00000549504.1_Intron|GALNT4_ENST00000529983.2_Missense_Mutation_p.F284C|POC1B_ENST00000541909.1_Intron|POC1B_ENST00000549035.1_Intron	NM_001199781.1|NM_001199782.1	NP_001186710.1|NP_001186711.1				24	40	0	79																		ATGCCACTGAAATGTTAAACG	0.458000													1	1	1	1	1	1	1.000000	24	40	0	85	1	9.996718e-01	20	7	0	85	5
ATP2B1	490	broad.mit.edu	37	12	89992944	89992944	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:89992944G>A	ENST00000428670.3	-	20	3757	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W	ATP2B1_ENST00000393164.2_Missense_Mutation_p.R844W|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R1065W|ATP2B1_ENST00000261173.2_Missense_Mutation_p.R1101W|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R1101W			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	16	93	0	90	1101	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			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TGGCCACGCCGCAACTCCCTT	0.473000													1	1	1	1	1	1	0.999989	18	100	0	100	1	9.995802e-01	16	60	0	100	5
CCER1	196477	broad.mit.edu	37	12	91347382	91347382	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:91347382T>G	ENST00000358859.2	-	1	1571	c.1138A>C	c.(1138-1140)Agc>Cgc	p.S380R	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1	40	51	0	84																		AAAGTGCAGCTTATAAAGTTC	0.433000													1	1	1	1	1	1	1.000000	43	57	0	89	0	0	0	0	0	89	5
KERA	11081	broad.mit.edu	37	12	91449541	91449541	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:91449541A>C	ENST00000266719.3	-	2	765	c.518T>G	c.(517-519)cTa>cGa	p.L173R		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	9	111	0	113	173					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTTGTTCTGTAGGTCAAGAAG	0.403000													1	1	1	1	0	1	0.997264	10	115	0	122	0	0	0	1	0	122	4
LUM	4060	broad.mit.edu	37	12	91502546	91502546	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:91502546G>T	ENST00000266718.4	-	2	665	c.211C>A	c.(211-213)Ctt>Att	p.L71I	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	4	38	0	43	71					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CTAAGGTAAAGATACTTGATT	0.413000													0	0	1	0	1	1	0.893620	4	38	0	46	1	9.999156e-01	2	332	0	46	2
CLLU1OS	574016	broad.mit.edu	37	12	92821901	92821901	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:92821901C>T	ENST00000378487.2	-	1	23	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	CLLU1_ENST00000378485.1_Intron|CLLU1_ENST00000472839.2_Intron|CLLU1OS_ENST00000538965.1_Missense_Mutation_p.E8K|RP11-693J15.4_ENST00000508671.1_RNA	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	16	24	0	22	8										large_intestine(1)|lung(7)	8						tccttaagttcgttgtgcccc	0.423000													1	1	1	1	1	1	1.000000	20	25	0	26	0	0	0	0	0	26	5
C12orf74	338809	broad.mit.edu	37	12	93100661	93100661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93100661C>A	ENST00000544406.2	+	2	520	c.254C>A	c.(253-255)tCg>tAg	p.S85*	C12orf74_ENST00000397833.3_Nonsense_Mutation_p.S85*			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	21	60	1	103	85										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						TGTTACCTTTCGAAGAGCCTG	0.562000													1	0	1	1	1	1	0.999948	22	62	1	105	0	0	0	0	1	105	4
PLEKHG7	440107	broad.mit.edu	37	12	93150140	93150140	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93150140C>T	ENST00000344636.3	+	8	857	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	19	34	0	68	225	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						CAGACACCTTCTCTATGAAGG	0.363000													1	1	1	1	1	1	0.999999	20	36	0	71	0	0	0	0	0	71	5
PLEKHG7	440107	broad.mit.edu	37	12	93163929	93163929	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93163929A>C	ENST00000344636.3	+	12	1282	c.1098A>C	c.(1096-1098)aaA>aaC	p.K366N		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	24	45	0	77	366					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAACCAAGAAAATATCTTTAT	0.318000													1	1	1	1	1	1	1.000000	25	50	0	91	0	0	0	0	0	91	5
EEA1	8411	broad.mit.edu	37	12	93169899	93169899	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93169899C>T	ENST00000322349.8	-	29	4388	c.4124G>A	c.(4123-4125)cGa>cAa	p.R1375Q		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	9	28	0	28	1375					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			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCCACACTGTCGGCAGTGATG	0.358000													1	1	1	1	1	1	0.998161	10	28	0	29	1	6.685401e-01	3	5	0	29	5
NUDT4	11163	broad.mit.edu	37	12	93792607	93792607	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93792607G>A	ENST00000337179.5	+	4	759	c.319G>A	c.(319-321)Gat>Aat	p.D107N	NUDT4_ENST00000415493.2_Missense_Mutation_p.D106N|NUDT4_ENST00000548662.1_Missense_Mutation_p.D54N|NUDT4_ENST00000547014.1_Missense_Mutation_p.D55N|NUDT4_ENST00000549992.1_Missense_Mutation_p.D54N	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	8	21	0	24	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			endometrium(2)|kidney(1)|lung(2)	5						AATATTAGAAGATTGGGAAGA	0.323000													1	1	1	1	1	1	0.992692	8	23	0	24	0	0	1	0	0	24	5
SOCS2	8835	broad.mit.edu	37	12	93968612	93968612	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:93968612C>A	ENST00000340600.2	+	3	852	c.254C>A	c.(253-255)tCt>tAt	p.S85Y	SOCS2_ENST00000536696.2_Missense_Mutation_p.S85Y|SOCS2_ENST00000549206.1_Missense_Mutation_p.S85Y|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000549122.1_Missense_Mutation_p.S85Y|SOCS2_ENST00000551556.1_Missense_Mutation_p.S85Y	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	20	30	0	60	85	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity	p.S85C(1)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						CTAACAATATCTGTTAAAACA	0.363000													1	1	1	1	1	1	1.000000	21	30	0	63	0	9.487551e-01	1	9	0	63	5
CRADD	8738	broad.mit.edu	37	12	94243956	94243956	+	Missense_Mutation	SNP	G	G	A	rs141179774	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94243956G>A	ENST00000542893.2	+	3	827	c.509G>A	c.(508-510)cGc>cAc	p.R170H	CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548483.1_Intron|CRADD_ENST00000332896.3_Missense_Mutation_p.R170H|CRADD_ENST00000548330.1_3'UTR			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	24	41	0	74	170	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TGGCGGCAGCGCTTCGGGAAG	0.637000													1	1	1	1	1	1	1.000000	26	44	0	83	1	9.996748e-01	11	16	0	83	5
PLXNC1	10154	broad.mit.edu	37	12	94543462	94543462	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94543462C>T	ENST00000258526.4	+	1	964	c.715C>T	c.(715-717)Ctc>Ttc	p.L239F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	9	11	0	33	239	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGACGCCTTTCTCTGGAACGG	0.687000													1	1	1	1	1	1	0.999577	11	11	0	35	0	0	0	1	0	35	5
PLXNC1	10154	broad.mit.edu	37	12	94575310	94575310	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94575310C>A	ENST00000258526.4	+	3	1541	c.1292C>A	c.(1291-1293)cCt>cAt	p.P431H	RP11-74K11.2_ENST00000550759.1_RNA	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	27	56	0	95	431	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAACTCGTTCCTGATCCTGTG	0.308000													1	1	1	1	1	1	1.000000	30	60	0	107	0	0	0	1	0	107	5
PLXNC1	10154	broad.mit.edu	37	12	94692488	94692488	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94692488A>C	ENST00000258526.4	+	27	4404	c.4155A>C	c.(4153-4155)aaA>aaC	p.K1385N	PLXNC1_ENST00000545312.1_Missense_Mutation_p.K124N|PLXNC1_ENST00000547057.1_Missense_Mutation_p.K432N	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	8	27	0	40	1385					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGCTATAAAATACTTTTTTG	0.378000													1	1	1	1	1	1	0.992231	8	28	0	41	0	6.072874e-02	0	2	0	41	5
CCDC41	51134	broad.mit.edu	37	12	94703807	94703807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:94703807G>A	ENST00000397809.5	-	16	2437	c.1888C>T	c.(1888-1890)Cga>Tga	p.R630*	CCDC41_ENST00000339839.5_Nonsense_Mutation_p.R630*	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	6	56	0	75	622										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						ATTAGACTTCGAAATTCATTA	0.348000													1	0	1	1	1	1	0.982577	7	60	0	82	0	4.427636e-01	0	13	0	82	4
NR2C1	7181	broad.mit.edu	37	12	95461145	95461145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95461145C>A	ENST00000333003.5	-	2	346	c.16G>T	c.(16-18)Gaa>Taa	p.E6*	NR2C1_ENST00000393101.3_Nonsense_Mutation_p.E6*|NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000330677.7_Nonsense_Mutation_p.E6*	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	14	25	0	29	6	Required for interaction with KAT2B (By similarity).				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			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGTGCAATTTCTTCTATGGTT	0.313000													1	1	1	1	1	1	0.999913	14	29	0	32	1	9.998185e-01	12	26	0	32	5
FGD6	55785	broad.mit.edu	37	12	95483391	95483391	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95483391A>G	ENST00000343958.4	-	18	4155	c.3932T>C	c.(3931-3933)aTt>aCt	p.I1311T	FGD6_ENST00000546711.1_Missense_Mutation_p.I1311T	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	28	50	0	91	1311					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			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CCCTGATGGAATGCTATGTAA	0.403000													1	1	1	1	1	1	1.000000	28	56	0	100	0	4.141625e-01	1	3	0	100	5
FGD6	55785	broad.mit.edu	37	12	95531303	95531303	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95531303A>G	ENST00000343958.4	-	7	3212	c.2989T>C	c.(2989-2991)Ttt>Ctt	p.F997L	FGD6_ENST00000549499.1_Missense_Mutation_p.F997L|FGD6_ENST00000546711.1_Missense_Mutation_p.F997L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	26	35	0	61	997	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			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AATACCTCAAATTCTCTAACA	0.328000													1	1	1	1	1	1	1.000000	31	37	0	71	0	6.164843e-01	1	3	0	71	5
METAP2	10988	broad.mit.edu	37	12	95868101	95868101	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:95868101C>A	ENST00000323666.5	+	1	375	c.146C>A	c.(145-147)tCt>tAt	p.S49Y	METAP2_ENST00000261220.9_Missense_Mutation_p.S49Y|METAP2_ENST00000551840.1_Missense_Mutation_p.S49Y|METAP2_ENST00000550777.1_Missense_Mutation_p.S49Y|METAP2_ENST00000546753.1_Missense_Mutation_p.S49Y	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	31	61	0	91	49					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AAAGGGCCTTCTGCAGGTAAA	0.577000													1	1	1	1	1	1	1.000000	34	65	0	97	1	1	45	61	0	97	5
NTN4	59277	broad.mit.edu	37	12	96052892	96052892	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:96052892G>T	ENST00000343702.4	-	10	2305	c.1857C>A	c.(1855-1857)gtC>gtA	p.V619V	NTN4_ENST00000538383.1_Silent_p.V582V|PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000553059.1_Silent_p.V596V|NTN4_ENST00000344911.4_Silent_p.V582V	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	16	39	0	52	619	NTR.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AAATATCCATGACTTTTCTTC	0.368000													1	1	1	1	1	1	0.999977	16	39	0	58	1	9.999828e-01	29	28	0	58	5
TMPO	7112	broad.mit.edu	37	12	98941517	98941517	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:98941517A>C	ENST00000556029.1	+	9	1602	c.1246A>C	c.(1246-1248)Aaa>Caa	p.K416Q	TMPO_ENST00000343315.5_Missense_Mutation_p.K376Q|TMPO_ENST00000393053.2_Missense_Mutation_p.K307Q|TMPO_ENST00000548223.1_3'UTR	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	29	47	0	71	416						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGTATGGATAAAAATTTTGCT	0.368000													1	1	1	1	1	1	1.000000	31	49	0	73	1	1	41	47	0	73	5
ANKS1B	56899	broad.mit.edu	37	12	100169404	100169404	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100169404C>T	ENST00000547776.2	-	7	882	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	ANKS1B_ENST00000329257.7_Missense_Mutation_p.E295K|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	12	11	0	40	295						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		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)		ACAGGCTCTTCGAGGACTGTA	0.348000													1	1	1	1	1	1	0.999986	15	13	0	46	0	0	0	0	0	46	5
UHRF1BP1L	23074	broad.mit.edu	37	12	100441926	100441926	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100441926G>T	ENST00000279907.7	-	18	3979	c.3767C>A	c.(3766-3768)tCt>tAt	p.S1256Y	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S906Y	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	14	39	0	42	1256										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AAATCTCAGAGAAATCTCAGG	0.358000													1	1	1	1	1	1	0.999998	19	41	0	45	1	9.493228e-01	2	12	0	45	5
UHRF1BP1L	23074	broad.mit.edu	37	12	100453042	100453042	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100453042A>C	ENST00000279907.7	-	14	2225	c.2013T>G	c.(2011-2013)atT>atG	p.I671M	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.I321M	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	25	39	0	47	671										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTCCTTTATAAATTTCATGCA	0.338000													1	1	1	1	1	1	1.000000	28	42	0	50	1	1.655251e-01	2	0	0	50	5
UHRF1BP1L	23074	broad.mit.edu	37	12	100453047	100453047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100453047C>A	ENST00000279907.7	-	14	2220	c.2008G>T	c.(2008-2010)Gaa>Taa	p.E670*	UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.E320*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	25	44	0	47	670										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTATAAATTTCATGCATTTTG	0.338000													1	1	1	1	1	1	1.000000	27	46	0	49	0	1.424561e-01	0	2	0	49	5
SCYL2	55681	broad.mit.edu	37	12	100727960	100727960	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100727960C>T	ENST00000360820.2	+	14	2215	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	21	34	0	43	593					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			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCTTTCATTTCCGTCATAAAA	0.308000													1	1	1	1	1	1	1.000000	24	39	0	45	1	9.997188e-01	13	14	0	45	5
NR1H4	9971	broad.mit.edu	37	12	100928670	100928670	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100928670T>G	ENST00000548884.1	+	6	1130	c.589T>G	c.(589-591)Ttg>Gtg	p.L197V	NR1H4_ENST00000392986.3_Missense_Mutation_p.L201V|NR1H4_ENST00000551379.1_Missense_Mutation_p.L211V|NR1H4_ENST00000188403.7_Missense_Mutation_p.L207V|NR1H4_ENST00000549996.1_Missense_Mutation_p.L150V	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	18	41	0	42	211					bile acid metabolic process|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|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TGTTTTAGGCTTGTTAACTGA	0.428000													1	1	1	1	1	1	0.999994	18	47	0	45	0	0	0	0	0	45	5
NR1H4	9971	broad.mit.edu	37	12	100934521	100934521	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:100934521C>T	ENST00000548884.1	+	9	1532	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	NR1H4_ENST00000392986.3_Missense_Mutation_p.R335C|NR1H4_ENST00000551379.1_Missense_Mutation_p.R345C|NR1H4_ENST00000188403.7_Missense_Mutation_p.R341C|NR1H4_ENST00000549996.1_Missense_Mutation_p.R284C	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	36	49	0	83	345	Ligand-binding.				bile acid metabolic process|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|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TATGTTCCTTCGTTCAGCTGA	0.388000													1	1	1	1	1	1	1.000000	41	51	0	88	0	0	0	0	0	88	5
ANO4	121601	broad.mit.edu	37	12	101413875	101413875	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101413875C>A	ENST00000392979.3	+	8	1054	c.693C>A	c.(691-693)caC>caA	p.H231Q	ANO4_ENST00000392977.3_Missense_Mutation_p.H266Q|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	13	24	0	35	266						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCGTGCATCACATTTTACAAA	0.299000										HNSCC(74;0.22)			1	1	1	1	1	1	0.999984	16	27	0	40	0	0	0	0	0	40	5
UTP20	27340	broad.mit.edu	37	12	101679554	101679554	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101679554A>C	ENST00000261637.4	+	4	395	c.221A>C	c.(220-222)aAa>aCa	p.K74T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	19	46	0	61	74					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			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTTATTGACAAATGCCAATCA	0.358000													1	1	1	1	1	1	0.999997	19	48	0	64	0	3.320065e-01	0	3	0	64	5
UTP20	27340	broad.mit.edu	37	12	101693498	101693498	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101693498G>T	ENST00000261637.4	+	13	1643	c.1469G>T	c.(1468-1470)aGa>aTa	p.R490I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	12	40	0	46	490					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			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TCCAAGGGAAGAAACGAACAG	0.358000													1	1	1	1	1	1	0.999490	12	41	0	49	0	0	1	0	0	49	5
UTP20	27340	broad.mit.edu	37	12	101759345	101759345	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101759345C>A	ENST00000261637.4	+	46	6241	c.6067C>A	c.(6067-6069)Cta>Ata	p.L2023I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	3	12	0	21	2023					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			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGAATCCATTCTATTACTCAG	0.373000													0	0	1	0	1	1	0.813480	3	13	0	23	1	7.394636e-01	5	8	0	23	2
SPIC	121599	broad.mit.edu	37	12	101873373	101873373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:101873373C>A	ENST00000551346.1	+	4	270	c.111C>A	c.(109-111)taC>taA	p.Y37*	SPIC_ENST00000299272.5_Nonsense_Mutation_p.Y37*			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	16	26	0	45	37						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACAGAAATTACCTGGCTTTAA	0.338000													1	1	1	1	1	1	0.999997	18	26	0	47	0	0	0	0	0	47	5
MYBPC1	4604	broad.mit.edu	37	12	102038555	102038555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102038555G>T	ENST00000549145.1	+	11	1010	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	MYBPC1_ENST00000553190.1_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000452455.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000541119.1_Nonsense_Mutation_p.E279*|MYBPC1_ENST00000536007.1_Nonsense_Mutation_p.E272*|MYBPC1_ENST00000545503.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000547405.1_Nonsense_Mutation_p.E265*|MYBPC1_ENST00000361466.2_Nonsense_Mutation_p.E316*|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Nonsense_Mutation_p.E277*|MYBPC1_ENST00000550270.1_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000392934.3_Nonsense_Mutation_p.E278*|MYBPC1_ENST00000551300.1_Nonsense_Mutation_p.E192*|MYBPC1_ENST00000361685.2_Nonsense_Mutation_p.E316*|MYBPC1_ENST00000360610.2_Nonsense_Mutation_p.E291*|MYBPC1_ENST00000441232.1_Nonsense_Mutation_p.E291*			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	8	13	0	34	291	Ig-like C2-type 2.			HKGCQRILFIN -> DTRCQSILNID (in Ref. 1; CAA46987).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAATGGTCAAGAAATTCGACC	0.398000													1	1	1	1	1	1	0.997267	9	14	0	38	0	0	0	0	0	38	5
MYBPC1	4604	broad.mit.edu	37	12	102067366	102067366	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102067366C>T	ENST00000549145.1	+	25	2893	c.2793C>T	c.(2791-2793)ttC>ttT	p.F931F	MYBPC1_ENST00000553190.1_Silent_p.F900F|MYBPC1_ENST00000452455.2_Silent_p.F918F|MYBPC1_ENST00000541119.1_Silent_p.F888F|MYBPC1_ENST00000536007.1_Silent_p.F881F|MYBPC1_ENST00000545503.2_Silent_p.F900F|MYBPC1_ENST00000547405.1_Silent_p.F874F|MYBPC1_ENST00000361466.2_Silent_p.F925F|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000547509.1_Silent_p.F886F|MYBPC1_ENST00000550270.1_Silent_p.F918F|MYBPC1_ENST00000392934.3_Silent_p.F887F|MYBPC1_ENST00000551300.1_Silent_p.F801F|MYBPC1_ENST00000361685.2_Silent_p.F925F|MYBPC1_ENST00000360610.2_Silent_p.F918F|MYBPC1_ENST00000441232.1_Silent_p.F918F			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	57	114	0	225	918	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.F925L(1)|p.F918L(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TGGACAAATTCGTGGAGACCG	0.418000													1	1	1	1	1	1	1.000000	63	124	0	242	0	0	0	0	0	242	5
SYCP3	50511	broad.mit.edu	37	12	102122937	102122937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102122937C>A	ENST00000392927.3	-	8	738	c.607G>T	c.(607-609)Gaa>Taa	p.E203*	SYCP3_ENST00000392924.1_Nonsense_Mutation_p.E203*|SYCP3_ENST00000266743.2_Nonsense_Mutation_p.E203*	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	6	17	0	13	203	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	p.E203K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTTTTAAATTCATTTTGTGCA	0.279000													0	0	1	1	1	1	0.971721	6	19	0	14	0	0	1	0	0	14	3
GNPTAB	79158	broad.mit.edu	37	12	102153891	102153891	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:102153891T>G	ENST00000299314.7	-	16	3428	c.3166A>C	c.(3166-3168)Aat>Cat	p.N1056H		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	20	49	0	82	1056					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTTGAGCAATTTATTAGCATG	0.353000													1	1	1	1	1	1	0.999999	21	52	0	91	1	9.737076e-01	11	7	0	91	5
C12orf42	374470	broad.mit.edu	37	12	103700009	103700009	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:103700009T>G	ENST00000548048.1	-	8	669	c.173A>C	c.(172-174)gAa>gCa	p.E58A	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000378113.2_Missense_Mutation_p.E125A|C12orf42_ENST00000548883.1_Missense_Mutation_p.E125A			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	5	29	0	30	125										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ACGGAATTCTTCATAGCTTTC	0.453000													1	0	1	1	1	1	0.969300	6	32	0	34	0	0	0	0	0	34	4
STAB2	55576	broad.mit.edu	37	12	104122665	104122665	+	Silent	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104122665T>A	ENST00000388887.2	+	48	5178	c.4974T>A	c.(4972-4974)gtT>gtA	p.V1658V		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	9	100	0	99	1658	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			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCCCCAGGTTCTTCGGTACC	0.488000													1	1	1	1	0	1	0.994817	9	108	0	106	0	0	0	0	0	106	4
STAB2	55576	broad.mit.edu	37	12	104134518	104134518	+	Silent	SNP	C	C	T	rs151219602		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104134518C>T	ENST00000388887.2	+	55	6069	c.5865C>T	c.(5863-5865)ttC>ttT	p.F1955F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	16	85	0	149	1955					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			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGGGCTACTTCGGGCGAGACT	0.547000													1	1	1	1	1	1	0.999995	19	99	0	173	0	0	0	0	0	173	5
HSP90B1	7184	broad.mit.edu	37	12	104335423	104335423	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104335423T>C	ENST00000299767.5	+	10	1429	c.1247T>C	c.(1246-1248)gTa>gCa	p.V416A		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	24	49	0	38	416					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			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GTGCGCCGTGTATTCATCACA	0.378000													1	0	1	1	1	1	1.000000	25	55	0	43	1	1	748	812	0	43	4
HSP90B1	7184	broad.mit.edu	37	12	104336433	104336433	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104336433G>A	ENST00000299767.5	+	12	1685	c.1503G>A	c.(1501-1503)tcG>tcA	p.S501S		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	17	39	0	80	501					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			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	AAGACCACTCGAATCGAACAC	0.393000													1	1	1	1	0	1	0.999995	18	41	0	90	1	1	857	1086	0	90	4
TDG	6996	broad.mit.edu	37	12	104373823	104373823	+	Translation_Start_Site	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104373823T>A	ENST00000542036.1	+	0	91				TDG_ENST00000392872.3_Silent_p.I127I|TDG_ENST00000544861.1_De_novo_Start_InFrame|TDG_ENST00000266775.9_Silent_p.I123I			Q13569	TDG_HUMAN	thymine-DNA glycosylase	19	41	0	48						depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TCCCCGATATTTTGACCTTCA	0.358000								Base excision repair (BER), DNA glycosylases					1	1	1	1	1	1	0.999998	19	43	0	49	0	6.833761e-01	1	6	0	49	5
HCFC2	29915	broad.mit.edu	37	12	104492166	104492166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:104492166C>T	ENST00000229330.4	+	13	1890	c.1786C>T	c.(1786-1788)Cga>Tga	p.R596*	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	15	26	0	41	596	Fibronectin type-III 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.R596*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AGCGGGAGAACGACAATGGTG	0.358000													1	1	1	1	1	1	0.999997	18	28	0	43	0	9.343167e-01	1	9	0	43	5
CHST11	50515	broad.mit.edu	37	12	105151374	105151374	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:105151374G>T	ENST00000303694.5	+	3	1291	c.852G>T	c.(850-852)gaG>gaT	p.E284D	CHST11_ENST00000549260.1_Missense_Mutation_p.E279D	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	21	28	0	57	284					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CACTGGAAGAGGATTCTAATT	0.517000													1	1	1	1	1	1	1.000000	21	29	0	61	1	9.995410e-01	8	15	0	61	5
KIAA1033	23325	broad.mit.edu	37	12	105527584	105527584	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:105527584G>A	ENST00000332180.5	+	14	1323	c.1236G>A	c.(1234-1236)tgG>tgA	p.W412*		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	20	48	0	64	412					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TGAGCTCATGGATGATGAAAA	0.333000													1	1	1	1	1	1	0.999999	21	49	0	66	0	5.842789e-01	0	6	0	66	5
KIAA1033	23325	broad.mit.edu	37	12	105535003	105535003	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:105535003T>G	ENST00000332180.5	+	18	1853	c.1766T>G	c.(1765-1767)cTt>cGt	p.L589R		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	32	61	0	87	589					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAACTGGATCTTATTAGTGAA	0.363000													1	1	1	1	1	1	1.000000	37	66	0	101	0	8.830309e-01	0	9	0	101	5
CKAP4	10970	broad.mit.edu	37	12	106633909	106633909	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:106633909C>A	ENST00000378026.4	-	2	838	c.702G>T	c.(700-702)gaG>gaT	p.E234D	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	37	63	0	100	234						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						CCACCGTGTTCTCCAGGGACG	0.552000													1	1	1	1	1	1	1.000000	40	66	0	105	1	1	99	149	0	105	5
BTBD11	121551	broad.mit.edu	37	12	108004065	108004065	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108004065G>A	ENST00000280758.5	+	5	2270	c.1742G>A	c.(1741-1743)cGa>cAa	p.R581Q	BTBD11_ENST00000420571.2_Missense_Mutation_p.R581Q|BTBD11_ENST00000357167.4_Missense_Mutation_p.R118Q|BTBD11_ENST00000490090.2_Missense_Mutation_p.R581Q|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	37	85	0	183	581						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AACTGTGGACGAACAGACCTG	0.582000											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	0	1	1.000000	39	87	0	200	0	0	0	0	0	200	4
BTBD11	121551	broad.mit.edu	37	12	108010898	108010898	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108010898C>T	ENST00000280758.5	+	8	2562	c.2034C>T	c.(2032-2034)ggC>ggT	p.G678G	BTBD11_ENST00000420571.2_Silent_p.G678G|BTBD11_ENST00000357167.4_Silent_p.G215G|BTBD11_ENST00000490090.2_Silent_p.G678G|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	33	57	0	121	678						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGGTGGAAGGCTCAGTGGAGC	0.592000													1	1	1	1	1	1	1.000000	37	62	0	139	0	0	0	0	0	139	5
PWP1	11137	broad.mit.edu	37	12	108104226	108104226	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108104226T>G	ENST00000412830.3	+	14	1503	c.1335T>G	c.(1333-1335)atT>atG	p.I445M	PWP1_ENST00000541166.1_Missense_Mutation_p.I383M	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	5	62	0	59	445					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGCCATTTATTTATGCCTTTG	0.448000													1	0	1	1	1	1	0.939778	5	69	0	70	1	9.757313e-01	7	93	0	70	4
PRDM4	11108	broad.mit.edu	37	12	108145727	108145727	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108145727A>C	ENST00000228437.5	-	5	1050	c.591T>G	c.(589-591)gtT>gtG	p.V197V	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	37	51	0	104	197					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			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TAACCCTAGAAACGTTCTCCA	0.512000													1	0	1	1	1	1	1.000000	40	57	0	108	1	9.972593e-01	8	9	0	108	4
WSCD2	9671	broad.mit.edu	37	12	108626509	108626509	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108626509C>T	ENST00000332082.4	+	8	1799	c.979_splice	c.e8-1	p.D327_splice	WSCD2_ENST00000549903.1_Splice_Site_p.D327_splice|WSCD2_ENST00000261400.3_Splice_Site_p.D327_splice|WSCD2_ENST00000547525.1_Splice_Site_p.D327_splice			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	13	18	0	26	327						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ccttttCAGACAACCGTTGCA	0.592000													1	1	1	1	1	1	0.999978	15	18	0	28	0	0	0	0	0	28	5
CMKLR1	1240	broad.mit.edu	37	12	108685654	108685654	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108685654C>A	ENST00000397688.2	-	3	1449	c.1080G>T	c.(1078-1080)agG>agT	p.R360S	CMKLR1_ENST00000412676.1_Missense_Mutation_p.R362S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R362S|CMKLR1_ENST00000312143.7_Missense_Mutation_p.R362S|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R360S	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	21	60	0	63	362					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			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCATAGAAGTCCTCTCATTCA	0.498000													1	1	1	1	1	1	1.000000	22	67	0	64	0	0	0	1	0	64	5
SART3	9733	broad.mit.edu	37	12	108931363	108931363	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:108931363C>T	ENST00000228284.3	-	9	1444	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	SART3_ENST00000431469.2_Intron	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	16	22	0	30	404					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AAAGCTTTCTCGAAGGTTACT	0.403000									Porokeratosis				1	1	1	1	1	1	0.999994	17	24	0	30	1	9.999847e-01	16	21	0	30	5
MYO1H	283446	broad.mit.edu	37	12	109863801	109863801	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:109863801C>A	ENST00000310903.5	+	18	1834	c.1728C>A	c.(1726-1728)atC>atA	p.I576I	MYO1H_ENST00000431443.2_Silent_p.I586I			B4DNW6	B4DNW6_HUMAN	myosin IH	18	31	0	26	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAACCCTCATCTCTAAGGAGC	0.502000													1	1	1	1	1	1	0.999998	19	36	0	29	0	0	0	0	0	29	5
MMAB	326625	broad.mit.edu	37	12	109994855	109994855	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:109994855G>A	ENST00000545712.2	-	9	1124	c.731C>T	c.(730-732)tCg>tTg	p.S244L	MMAB_ENST00000540016.1_Missense_Mutation_p.S192L|MMAB_ENST00000266839.5_Missense_Mutation_p.S153L	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	19	24	0	39	244					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGACTCGGCCGATGGGTCATT	0.532000													1	1	1	1	1	1	1.000000	20	26	0	42	1	1	29	40	0	42	5
ANKRD13A	88455	broad.mit.edu	37	12	110451051	110451051	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:110451051C>T	ENST00000261739.4	+	3	517	c.351C>T	c.(349-351)ctC>ctT	p.L117L	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	16	33	0	46	117										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AAAAAATTCTCGAGGTATCCA	0.468000													1	1	1	1	1	1	0.999990	17	37	0	49	1	9.991307e-01	14	17	0	49	5
IFT81	28981	broad.mit.edu	37	12	110618313	110618313	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:110618313C>T	ENST00000242591.5	+	12	1781	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	IFT81_ENST00000552912.1_Silent_p.F425F	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	5	16	0	22	425					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AAGCTGAATTCGGTCTTTTGC	0.323000													1	0	1	1	1	1	0.945274	5	18	0	23	1	9.945465e-01	24	22	0	23	4
GPN3	51184	broad.mit.edu	37	12	110902914	110902914	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:110902914C>A	ENST00000543199.1	-	2	355	c.271G>T	c.(271-273)Gct>Tct	p.A91S	GPN3_ENST00000537466.2_Missense_Mutation_p.A62S|GPN3_ENST00000552180.1_5'UTR|GPN3_ENST00000228827.3_Missense_Mutation_p.A52S	NM_001164372.1	NP_001157844.1	Q9UHW5	GPN3_HUMAN	GPN-loop GTPase 3	15	31	0	59	52						protein complex	GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						GACTTACCAGCCATCACGGAG	0.522000													1	1	1	1	1	1	0.999992	17	31	0	64	1	9.999999e-01	28	45	0	64	5
CUX2	23316	broad.mit.edu	37	12	111776197	111776197	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:111776197C>T	ENST00000261726.6	+	20	3458	c.3304C>T	c.(3304-3306)Cct>Tct	p.P1102S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	27	54	0	89	1102						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGGGCGGGAGCCTTTTGTCCG	0.577000													1	1	1	1	1	1	1.000000	28	57	0	100	0	0	0	0	0	100	5
HECTD4	283450	broad.mit.edu	37	12	112673048	112673048	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:112673048T>C	ENST00000550722.1	-	37	5705	c.5310A>G	c.(5308-5310)ccA>ccG	p.P1770P	HECTD4_ENST00000430131.2_Silent_p.P1494P|HECTD4_ENST00000377560.5_Silent_p.P1744P	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4	12	19	0	43																		CAGAAGCGGTTGGAGAAAGAA	0.423000													1	1	1	1	1	1	0.999862	13	20	0	48	0	3.558559e-01	1	2	0	48	5
PTPN11	5781	broad.mit.edu	37	12	112893786	112893786	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:112893786A>C	ENST00000351677.2	+	6	873	c.675A>C	c.(673-675)gaA>gaC	p.E225D	PTPN11_ENST00000392597.1_Missense_Mutation_p.E225D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	19	26	0	38	225					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|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	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATGCTGCTGAAATAGAAAGCA	0.348000			Mis		JMML, AML, MDS		Noonan Syndrome		Noonan syndrome				1	1	1	1	1	1	0.999999	20	27	0	43	1	9.998481e-01	13	14	0	43	5
OAS2	0	broad.mit.edu	37	12	113436156	113436156	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:113436156A>G	ENST00000392583.2	+	5	1156	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.T317A	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	32	74	0	113	317	OAS domain 1.				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			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGAAGCTCAAACCTGGTTGAC	0.433000													1	1	1	1	1	1	1.000000	35	79	0	125	1	9.718398e-01	2	14	0	125	5
DDX54	79039	broad.mit.edu	37	12	113599158	113599158	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:113599158A>C	ENST00000314045.7	-	19	2357	c.2330T>G	c.(2329-2331)aTt>aGt	p.I777S	DDX54_ENST00000306014.5_Missense_Mutation_p.I777S|DDX54_ENST00000549271.1_5'UTR	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	24	27	0	73	777					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			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACGATCATCAATTTTCTGTTT	0.587000													1	1	1	1	1	1	1.000000	27	32	0	82	1	1	97	119	0	82	5
RBM19	9904	broad.mit.edu	37	12	114364909	114364909	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:114364909G>A	ENST00000545145.2	-	17	2272	c.2194C>T	c.(2194-2196)Ctg>Ttg	p.L732L	RBM19_ENST00000261741.5_Silent_p.L732L|RBM19_ENST00000392561.3_Silent_p.L732L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	15	26	0	39	732	RRM 5.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTAATAAACAGAGTACATCCT	0.483000													0	0	1	0	0	1	0.999965	15	26	0	40	1	9.998452e-01	16	18	0	40	1
TBX5	6910	broad.mit.edu	37	12	114803995	114803995	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:114803995T>G	ENST00000310346.4	-	8	1623	c.957A>C	c.(955-957)caA>caC	p.Q319H	TBX5_ENST00000349716.5_Missense_Mutation_p.Q269H|TBX5_ENST00000405440.2_Missense_Mutation_p.Q319H|TBX5_ENST00000526441.1_Missense_Mutation_p.Q319H	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	7	65	0	53	319					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			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AATGGTAAATTTGGCTATGCT	0.532000													1	1	1	1	1	1	0.990652	8	70	0	53	0	0	0	0	0	53	5
TBX5	6910	broad.mit.edu	37	12	114832641	114832641	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:114832641C>A	ENST00000310346.4	-	6	1234	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	TBX5_ENST00000349716.5_Nonsense_Mutation_p.E140*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.E190*|TBX5_ENST00000526441.1_Nonsense_Mutation_p.E190*	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	76	135	0	194	190					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			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CCATTATTTTCATCCGCTTTC	0.358000													1	1	1	1	1	1	1.000000	87	151	0	218	0	0	0	0	0	218	5
MED13L	23389	broad.mit.edu	37	12	116408498	116408498	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:116408498C>A	ENST00000281928.3	-	27	6174	c.5968G>T	c.(5968-5970)Gat>Tat	p.D1990Y		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	27	37	0	43	1990					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAAGAAGCATCTTGAGGGGTG	0.453000													1	1	1	1	1	1	1.000000	27	39	0	45	1	9.889297e-01	5	9	0	45	5
MED13L	23389	broad.mit.edu	37	12	116446641	116446641	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:116446641T>G	ENST00000281928.3	-	10	1783	c.1577A>C	c.(1576-1578)gAt>gCt	p.D526A		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	21	25	0	37	526					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CATTTGCTTATCATATTTCCT	0.468000													1	1	1	1	1	1	1.000000	22	26	0	37	1	8.917094e-01	2	5	0	37	5
MED13L	23389	broad.mit.edu	37	12	116534522	116534522	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:116534522T>C	ENST00000281928.3	-	4	637	c.431A>G	c.(430-432)aAa>aGa	p.K144R		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	19	18	0	45	144					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GACAAACCATTTCCCAATCCT	0.388000													1	1	1	1	1	1	1.000000	20	21	0	51	0	0	1	0	0	51	5
RFC5	5985	broad.mit.edu	37	12	118467596	118467596	+	Nonsense_Mutation	SNP	C	C	T	rs141299152		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:118467596C>T	ENST00000392542.2	+	11	1362	c.829C>T	c.(829-831)Cga>Tga	p.R277*	RFC5_ENST00000454402.2_Nonsense_Mutation_p.R298*|RFC5_ENST00000229043.3_Nonsense_Mutation_p.R213*|RFC5_ENST00000543153.1_3'UTR	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	35	55	0	85	298					cell cycle checkpoint|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	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCTTCAGTTCGAATACATTT	0.363000													1	1	1	1	1	1	1.000000	43	62	0	93	1	1	19	45	0	93	5
WSB2	55884	broad.mit.edu	37	12	118474182	118474182	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:118474182A>C	ENST00000315436.3	-	6	935	c.794T>G	c.(793-795)aTg>aGg	p.M265R	WSB2_ENST00000441406.2_Missense_Mutation_p.M282R|WSB2_ENST00000544233.1_Missense_Mutation_p.M55R|WSB2_ENST00000542304.1_Missense_Mutation_p.M40R|WSB2_ENST00000535496.1_Missense_Mutation_p.M267R|WSB2_ENST00000536738.1_5'UTR	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	54	114	0	144	265					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGTCCCACATAATCACATT	0.532000													1	1	1	1	1	1	1.000000	54	125	0	154	1	1	53	65	0	154	5
TAOK3	51347	broad.mit.edu	37	12	118675943	118675943	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:118675943G>A	ENST00000392533.3	-	7	862	c.372C>T	c.(370-372)atC>atT	p.I124I	TAOK3_ENST00000419821.2_Silent_p.I124I	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	23	55	0	61	124	Protein kinase.				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			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAATGGCAGCGATCTCCACTT	0.363000													1	1	1	1	1	1	1.000000	25	62	0	70	0	8.764045e-02	1	1	0	70	5
SRRM4	84530	broad.mit.edu	37	12	119583269	119583269	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:119583269C>T	ENST00000267260.4	+	9	1243	c.855C>T	c.(853-855)taC>taT	p.Y285Y		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	10	9	0	12	285	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCAGGAGTACGACTCAGGAA	0.607000													0	1	1	1	1	1	0.999577	11	11	0	14	0	0	0	0	0	14	4
SRRM4	84530	broad.mit.edu	37	12	119588844	119588844	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:119588844G>A	ENST00000267260.4	+	10	1487	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	12	20	0	38	367	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACCGTGTCTGGAATGTGCCGA	0.557000													1	0	1	1	0	1	0.999648	12	23	0	41	0	0	0	0	0	41	3
CIT	11113	broad.mit.edu	37	12	120295449	120295449	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:120295449C>T	ENST00000392521.2	-	4	347	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	CIT_ENST00000261833.7_Missense_Mutation_p.E98K	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	47	107	0	163	98	Protein kinase.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTTCTGACTTCGAAGTCCTTT	0.458000													1	1	1	1	1	1	1.000000	54	119	0	187	0	2.355932e-01	0	3	0	187	5
PLA2G1B	5319	broad.mit.edu	37	12	120762808	120762808	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:120762808T>G	ENST00000308366.4	-	3	286	c.251A>C	c.(250-252)aAa>aCa	p.K84T	PLA2G1B_ENST00000549767.1_Missense_Mutation_p.K55T|PLA2G1B_ENST00000423423.3_Intron	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	43	58	0	81	84					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			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCAGAAATTTACAGCTGTC	0.512000											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	45	59	0	85	0	0	0	0	0	85	5
UNC119B	84747	broad.mit.edu	37	12	121151136	121151136	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:121151136C>T	ENST00000344651.4	+	2	344	c.304C>T	c.(304-306)Cga>Tga	p.R102*	UNC119B_ENST00000539658.1_3'UTR	NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	15	42	0	57	102										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTCAAAATTCGAGATTTGGA	0.403000													1	1	1	1	1	1	0.999985	17	55	0	65	1	7.225937e-01	3	7	0	65	5
WDR66	144406	broad.mit.edu	37	12	122361794	122361794	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:122361794C>T	ENST00000288912.4	+	3	1499	c.645C>T	c.(643-645)tcC>tcT	p.S215S	WDR66_ENST00000397454.2_Silent_p.S215S	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	47	61	0	113	215							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	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)		GGAGAGTATCCGACATCCAGT	0.517000													1	1	1	1	1	1	1.000000	49	65	0	120	1	9.154288e-01	4	4	0	120	5
KNTC1	9735	broad.mit.edu	37	12	123067340	123067340	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:123067340A>G	ENST00000333479.7	+	34	3248	c.3071A>G	c.(3070-3072)gAa>gGa	p.E1024G	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	11	17	0	14	1024					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			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	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)		AAAGCTCACGAAGTTGCACAG	0.498000													0	1	1	1	1	1	0.999351	11	18	0	15	1	8.894174e-01	3	6	0	15	4
KNTC1	9735	broad.mit.edu	37	12	123087284	123087284	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:123087284C>A	ENST00000333479.7	+	46	4999	c.4822C>A	c.(4822-4824)Ctc>Atc	p.L1608I	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Missense_Mutation_p.L33I	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	11	28	0	31	1608					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			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	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)		CTGGAAAATTCTCTGTATGTG	0.358000													1	1	1	1	1	1	0.999129	11	28	0	33	1	9.760454e-01	8	12	0	33	5
DDX55	57696	broad.mit.edu	37	12	124102387	124102387	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124102387T>C	ENST00000238146.4	+	11	1182	c.1132T>C	c.(1132-1134)Tca>Cca	p.S378P	DDX55_ENST00000538744.1_Missense_Mutation_p.S347P|DDX55_ENST00000541259.1_Intron	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	6	60	0	100	378	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	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)		CATGGAAGAGTCATACATCAA	0.532000											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.990670	8	69	0	111	1	9.805343e-01	7	57	0	111	5
DDX55	57696	broad.mit.edu	37	12	124104541	124104541	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124104541G>T	ENST00000238146.4	+	14	1707	c.1657G>T	c.(1657-1659)Gaa>Taa	p.E553*	DDX55_ENST00000538744.1_Nonsense_Mutation_p.E522*|DDX55_ENST00000421670.3_Nonsense_Mutation_p.E160*	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	25	40	0	52	553	Lys-rich.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	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)		GGACATGGAAGAACTTCTTAA	0.343000													1	1	1	1	1	1	1.000000	26	43	0	55	1	1	53	42	0	55	5
DNAH10	196385	broad.mit.edu	37	12	124326058	124326058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124326058G>T	ENST00000409039.3	+	29	4997	c.4972G>T	c.(4972-4974)Gag>Tag	p.E1658*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	21	46	0	56	1658	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	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)		AATTACCAAAGAGGCTATTTT	0.418000													1	1	1	1	1	1	1.000000	23	50	0	59	0	0	0	0	0	59	5
DNAH10	196385	broad.mit.edu	37	12	124371784	124371784	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124371784G>A	ENST00000409039.3	+	51	8590	c.8565G>A	c.(8563-8565)gcG>gcA	p.A2855A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	8	26	0	43	2855	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	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)		AGAACAAAGCGATGATCTTTC	0.542000													1	1	1	1	1	1	0.996086	9	30	0	50	0	0	0	0	0	50	5
NCOR2	9612	broad.mit.edu	37	12	124831140	124831140	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:124831140C>T	ENST00000356219.3	-	32	4505	c.4350G>A	c.(4348-4350)ccG>ccA	p.P1450P	NCOR2_ENST00000429285.2_Silent_p.P1433P|NCOR2_ENST00000405201.1_Silent_p.P1443P|NCOR2_ENST00000404621.1_Silent_p.P1433P|NCOR2_ENST00000404121.2_Silent_p.P1004P|NCOR2_ENST00000397355.1_Silent_p.P1434P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	6	9	0	19	1451					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			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	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)		TGAGCGGCCGCGGGGCCAGGG	0.726000													1	0	1	1	1	1	0.974012	6	13	0	23	1	9.999284e-01	30	39	0	23	4
TMEM132C	92293	broad.mit.edu	37	12	128899720	128899720	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:128899720G>T	ENST00000435159.2	+	2	529	c.529G>T	c.(529-531)Gaa>Taa	p.E177*		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	12	14	0	17	177						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TGCTTTCCGAGAAACCAGAGA	0.637000													1	0	1	1	1	1	0.999898	13	15	0	19	0	0	0	0	0	19	4
TMEM132D	121256	broad.mit.edu	37	12	129558971	129558971	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:129558971C>A	ENST00000422113.2	-	9	3075	c.2749G>T	c.(2749-2751)Gaa>Taa	p.E917*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.E455*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	41	63	0	101	917						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	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)		ATCCCAATTTCTAAGTCGCTC	0.478000													1	1	1	1	1	1	1.000000	44	67	0	107	0	0	0	0	0	107	5
PIWIL1	9271	broad.mit.edu	37	12	130847640	130847640	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:130847640G>A	ENST00000245255.3	+	18	2418	c.2146G>A	c.(2146-2148)Gaa>Aaa	p.E716K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	29	50	0	70	716	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	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)		GGTGAACTACGAAGTGCCACA	0.443000													1	1	1	1	1	1	1.000000	30	55	0	75	1	9.516284e-01	11	1	0	75	5
GPR133	283383	broad.mit.edu	37	12	131456095	131456095	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:131456095A>G	ENST00000261654.5	+	4	839	c.280A>G	c.(280-282)Atc>Gtc	p.I94V	GPR133_ENST00000535015.1_Missense_Mutation_p.I126V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	12	26	0	32	94					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	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)		CAGCTCCTGCATCAGCAAGCC	0.507000													1	1	1	1	1	1	0.999584	12	28	0	33	0	0	0	0	0	33	5
EP400	57634	broad.mit.edu	37	12	132479477	132479477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:132479477G>T	ENST00000333577.4	+	13	3020	c.2911G>T	c.(2911-2913)Gaa>Taa	p.E971*	EP400_ENST00000332482.4_Nonsense_Mutation_p.E898*|EP400_ENST00000389562.2_Nonsense_Mutation_p.E934*|EP400_ENST00000330386.6_Nonsense_Mutation_p.E935*|EP400_ENST00000389561.2_Nonsense_Mutation_p.E935*			Q96L91	EP400_HUMAN	E1A binding protein p400	17	73	0	115	971	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			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	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)		CCACCAAACAGAACTTTCTAA	0.373000													1	1	1	1	1	1	0.999991	18	81	0	133	0	0	0	1	0	133	5
GALNT9	50614	broad.mit.edu	37	12	132688051	132688051	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:132688051G>A	ENST00000328957.8	-	7	1261	c.1263_splice	c.e7+1	p.S421_splice	GALNT9_ENST00000541995.1_Splice_Site_p.S55_splice|GALNT9_ENST00000397325.2_Splice_Site_p.S55_splice|GALNT9_ENST00000535228.1_Splice_Site_p.S172_splice	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	21	26	0	42	421					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.S421L(1)|p.S55L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	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)		GGGACTCACCGACATGGGGAT	0.682000													1	1	1	1	1	1	1.000000	23	27	0	45	0	0	0	1	0	45	5
POLE	5426	broad.mit.edu	37	12	133253184	133253184	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:133253184G>C	ENST00000320574.5	-	9	900	c.857C>G	c.(856-858)cCt>cGt	p.P286R	POLE_ENST00000535270.1_Missense_Mutation_p.P259R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	13	29	0	37	286					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	p.P286H(1)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	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)		CTCAGCATCAGGAAACTTGAG	0.493000								DNA polymerases (catalytic subunits)					1	1	1	1	1	1	0.999958	15	31	0	42	0	6.359942e-01	1	5	0	42	5
ZNF10	7556	broad.mit.edu	37	12	133727724	133727724	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:133727724G>T	ENST00000248211.6	+	3	366	c.144G>T	c.(142-144)aaG>aaT	p.K48N	ZNF10_ENST00000426665.2_Missense_Mutation_p.K48N|CTD-2140B24.4_ENST00000540096.2_Missense_Mutation_p.K48N|ZNF10_ENST00000402932.2_Missense_Mutation_p.K48N|ZNF268_ENST00000416488.1_Missense_Mutation_p.K48N|ZNF10_ENST00000540927.1_3'UTR	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	17	40	0	78	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	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)		AGAACTATAAGAACCTGGTTT	0.453000													1	1	1	1	1	1	0.999997	19	44	0	86	1	5.879345e-01	3	3	0	86	5
ZNF268	10795	broad.mit.edu	37	12	133779416	133779416	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:133779416C>A	ENST00000536435.2	+	6	1474	c.1144C>A	c.(1144-1146)Cat>Aat	p.H382N	ZNF268_ENST00000537565.1_Missense_Mutation_p.H221N|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.H382N	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	5	11	0	14	382						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCAGAAAACTCATTCAGGACA	0.388000													0	0	1	1	1	1	0.949096	5	11	0	14	1	8.011067e-01	4	5	0	14	3
ZNF268	10795	broad.mit.edu	37	12	133781007	133781007	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:133781007G>T	ENST00000536435.2	+	6	3065	c.2735G>T	c.(2734-2736)aGa>aTa	p.R912I	ZNF268_ENST00000537565.1_Missense_Mutation_p.R751I|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.R912I	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	4	11	0	8	912						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GCACATCAGAGAACACATACA	0.418000													0	0	1	0	0	1	0.947670	5	13	0	9	1	9.936885e-01	18	16	0	9	1
TUBA3C	7278	broad.mit.edu	37	13	19751395	19751395	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:19751395C>T	ENST00000400113.3	-	4	832	c.728G>A	c.(727-729)cGa>cAa	p.R243Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	74	125	0	193	243					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R243Q(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		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)		CCCGTCAAATCGCAGGGAGGC	0.597000													1	1	1	1	1	1	1.000000	82	134	0	206	0	0	0	0	0	206	5
TUBA3C	7278	broad.mit.edu	37	13	19752459	19752459	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:19752459T>G	ENST00000400113.3	-	3	406	c.302A>C	c.(301-303)aAt>aCt	p.N101T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	15	116	0	125	101					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		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)		GGCGTAATTATTGGCCGCATC	0.527000													1	1	1	1	1	1	0.999905	15	117	0	128	0	0	0	0	0	128	5
TUBA3C	7278	broad.mit.edu	37	13	19753677	19753677	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:19753677C>T	ENST00000400113.3	-	2	134	c.30G>A	c.(28-30)ggG>ggA	p.G10G		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	27	51	0	73	10					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G10G(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		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)		CTCCTGCCTGCCCCACGTGGA	0.463000													1	1	1	1	1	1	1.000000	30	55	0	79	0	0	0	0	0	79	5
SGCG	6445	broad.mit.edu	37	13	23853608	23853608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23853608C>T	ENST00000218867.3	+	5	620	c.496C>T	c.(496-498)Cga>Tga	p.R166*	SGCG_ENST00000537476.1_Nonsense_Mutation_p.R166*|SGCG_ENST00000545013.1_Nonsense_Mutation_p.R166*	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	12	17	0	18	166					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		AGATAAACTTCGAGTAACTGG	0.388000													1	1	1	1	1	1	0.999713	12	18	0	18	0	0	0	0	0	18	5
SACS	26278	broad.mit.edu	37	13	23904369	23904369	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23904369T>G	ENST00000382298.3	-	10	14234	c.13646A>C	c.(13645-13647)aAt>aCt	p.N4549T	SACS_ENST00000382292.3_Missense_Mutation_p.N4549T|SACS_ENST00000402364.1_Missense_Mutation_p.N3799T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	22	49	0	58	4549	HEPN.		N -> D (in SACS).		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			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		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)		GAACCTGTCATTTGGGATCTG	0.373000													1	1	1	1	1	1	1.000000	22	51	0	61	1	9.060925e-01	6	5	0	61	5
SACS	26278	broad.mit.edu	37	13	23907353	23907353	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23907353T>A	ENST00000382298.3	-	10	11250	c.10662A>T	c.(10660-10662)gaA>gaT	p.E3554D	SACS_ENST00000382292.3_Missense_Mutation_p.E3554D|SACS_ENST00000402364.1_Missense_Mutation_p.E2804D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	8	7	0	13	3554					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			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		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)		TAAACAATTTTTCAGGAAGCA	0.303000													0	1	1	1	1	1	0.998141	9	8	0	13	0	7.067669e-01	1	2	0	13	4
SACS	26278	broad.mit.edu	37	13	23910423	23910423	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23910423C>T	ENST00000382298.3	-	10	8180	c.7592G>A	c.(7591-7593)aGa>aAa	p.R2531K	SACS_ENST00000382292.3_Missense_Mutation_p.R2531K|SACS_ENST00000402364.1_Missense_Mutation_p.R1781K	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	29	49	0	46	2531					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			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		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)		GCTCTTAATTCTGCTGGTCAA	0.393000													1	1	1	1	1	1	1.000000	29	50	0	47	0	4.718681e-01	1	3	0	47	5
SACS	26278	broad.mit.edu	37	13	23932558	23932558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:23932558C>A	ENST00000382298.3	-	7	1108	c.520G>T	c.(520-522)Gaa>Taa	p.E174*	SACS_ENST00000382292.3_Nonsense_Mutation_p.E174*|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	47	73	0	145	174					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			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		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)		CTTGCTATTTCTTGAATGCCG	0.438000													1	1	1	1	1	1	1.000000	51	79	0	161	0	6.487451e-01	0	5	0	161	5
ATP12A	479	broad.mit.edu	37	13	25280568	25280568	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25280568G>T	ENST00000218548.6	+	15	2487	c.2154G>T	c.(2152-2154)caG>caT	p.Q718H	ATP12A_ENST00000381946.3_Missense_Mutation_p.Q712H	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	14	36	0	61	712					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.Q712H(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		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)	CCCCCCAGCAGAAGCTGATCA	0.562000													1	1	1	1	1	1	0.999951	15	37	0	68	0	0	0	0	0	68	5
CENPJ	55835	broad.mit.edu	37	13	25458144	25458144	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25458144C>A	ENST00000381884.4	-	16	3966	c.3781G>T	c.(3781-3783)Gaa>Taa	p.E1261*	CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	24	53	0	88	1261					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			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		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)		ATGCTTTCTTCTTGTCCATCA	0.373000													1	1	1	1	1	1	1.000000	28	55	0	92	1	9.958978e-01	6	15	0	92	5
CENPJ	55835	broad.mit.edu	37	13	25480675	25480675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:25480675C>A	ENST00000381884.4	-	7	1686	c.1501G>T	c.(1501-1503)Gaa>Taa	p.E501*	CENPJ_ENST00000545981.1_Nonsense_Mutation_p.E501*	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	27	54	0	83	501					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			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		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)		GTTACATTTTCTTTATTATTA	0.423000													1	1	1	1	1	1	1.000000	29	56	0	87	0	1.214734e-01	0	2	0	87	5
RASL11A	387496	broad.mit.edu	37	13	27847485	27847485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:27847485G>T	ENST00000241463.4	+	4	1201	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	22	37	0	58	195	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		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)		TCTCTGCAAAGAAGTGAGCAA	0.517000													1	1	1	1	1	1	1.000000	22	38	0	58	1	9.999995e-01	20	35	0	58	5
FLT3	2322	broad.mit.edu	37	13	28602426	28602426	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:28602426C>A	ENST00000380982.4	-	16	2024		c.e16-1		FLT3_ENST00000241453.7_Splice_Site|FLT3_ENST00000537084.1_Splice_Site			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	9	15	0	23						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	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)	TCTGCTTTTTCTGTCAAAGAA	0.388000			Mis, O		AML, ALL								1	1	1	1	1	1	0.997155	9	15	0	24	0	0	0	0	0	24	5
PAN3	255967	broad.mit.edu	37	13	28862175	28862175	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:28862175C>A	ENST00000399613.1	+	17	1902	c.1839C>A	c.(1837-1839)ctC>ctA	p.L613L	PAN3_ENST00000380958.3_Silent_p.L813L|PAN3_ENST00000282391.5_Silent_p.L501L			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	11	24	0	38	813	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	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)		TGTTGAAACTCTTTAGGGATC	0.418000													1	1	1	1	1	1	0.999814	13	28	0	39	1	9.595804e-01	10	5	0	39	5
POMP	51371	broad.mit.edu	37	13	29246494	29246494	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:29246494C>A	ENST00000380842.4	+	5	364	c.283C>A	c.(283-285)Ctt>Att	p.L95I	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	25	49	0	79	95					proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TCTTCCATTTCTTTCAAGCTC	0.353000													1	1	1	1	1	1	1.000000	26	57	0	92	1	1	346	439	0	92	5
MTUS2	23281	broad.mit.edu	37	13	30071434	30071434	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:30071434C>T	ENST00000431530.3	+	11	3727	c.3669C>T	c.(3667-3669)ttC>ttT	p.F1223F	MTUS2_ENST00000542829.1_Silent_p.F102F|MTUS2_ENST00000380808.2_Silent_p.F192F|MTUS2_ENST00000400542.3_3'UTR	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	6	14	0	36	1213						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCCGCCGCTTCGAAGAGGCCT	0.617000													1	1	1	1	1	1	0.993042	8	20	0	39	0	0	0	0	0	39	5
USPL1	10208	broad.mit.edu	37	13	31231670	31231670	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31231670G>T	ENST00000255304.4	+	9	1798	c.1456G>T	c.(1456-1458)Gaa>Taa	p.E486*		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	20	41	0	64	486					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		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)		CAAGAAATTTGAAGTTCCTGC	0.373000													1	1	1	1	1	1	0.999999	20	44	0	74	1	9.618893e-01	6	9	0	74	5
TEX26	122046	broad.mit.edu	37	13	31526864	31526864	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31526864T>C	ENST00000380473.3	+	3	227	c.214T>C	c.(214-216)Tat>Cat	p.Y72H		NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	25	31	0	53	72																	TCAGACACAATATAGTGATGA	0.343000													1	1	1	1	1	1	1.000000	27	35	0	56	0	0	0	0	0	56	5
HSPH1	10808	broad.mit.edu	37	13	31713236	31713236	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31713236T>G	ENST00000320027.5	-	15	2333	c.1989A>C	c.(1987-1989)caA>caC	p.Q663H	HSPH1_ENST00000445273.2_Missense_Mutation_p.Q665H|HSPH1_ENST00000380405.4_Missense_Mutation_p.Q619H|HSPH1_ENST00000429785.2_Missense_Mutation_p.Q482H|HSPH1_ENST00000380406.5_Missense_Mutation_p.Q622H	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	10	26	0	36	663					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TCAAAAAATTTTGATGATCCT	0.363000													0	0	1	0	0	1	0.998130	10	29	0	38	1	1	79	108	0	38	1
HSPH1	10808	broad.mit.edu	37	13	31714336	31714336	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:31714336T>G	ENST00000320027.5	-	14	2309	c.1965A>C	c.(1963-1965)aaA>aaC	p.K655N	HSPH1_ENST00000445273.2_Missense_Mutation_p.K657N|HSPH1_ENST00000380405.4_Missense_Mutation_p.K611N|HSPH1_ENST00000429785.2_Missense_Mutation_p.K474N|HSPH1_ENST00000380406.5_Missense_Mutation_p.K614N	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	19	36	0	55	655					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CACATATAAATTTTTCATATG	0.328000													1	1	1	1	1	1	1.000000	21	44	0	64	1	1	114	134	0	64	5
FRY	10129	broad.mit.edu	37	13	32759225	32759225	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32759225C>A	ENST00000380250.3	+	26	3755	c.3259C>A	c.(3259-3261)Ctt>Att	p.L1087I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	6	96	0	86	1087					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		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)		AGTTGAAATTCTTAAAGATAT	0.438000													1	1	1	1	0	1	0.966440	6	98	0	87	0	0	0	0	0	87	4
BRCA2	675	broad.mit.edu	37	13	32911760	32911760	+	Missense_Mutation	SNP	A	A	C	rs80359381		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32911760A>C	ENST00000544455.1	+	11	3495	c.3268A>C	c.(3268-3270)Atg>Ctg	p.M1090L	BRCA2_ENST00000380152.3_Missense_Mutation_p.M1090L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	11	54	0	47	1090					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			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		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)		AACCCCTCAGATGTTATTTTC	0.328000			D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			1	1	1	1	1	1	0.998820	11	55	0	49	0	0	0	0	0	49	5
BRCA2	675	broad.mit.edu	37	13	32971071	32971071	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32971071C>T	ENST00000544455.1	+	26	9765	c.9538C>T	c.(9538-9540)Ctt>Ttt	p.L3180F	BRCA2_ENST00000380152.3_Missense_Mutation_p.L3180F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	79	130	0	189	3180					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			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		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)		AGAAAACAAGCTTATGCATAT	0.378000			D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			1	1	1	1	1	1	1.000000	87	139	0	210	1	6.362640e-01	3	2	0	210	5
BRCA2	675	broad.mit.edu	37	13	32972843	32972843	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:32972843A>G	ENST00000544455.1	+	27	10420	c.10193A>G	c.(10192-10194)cAg>cGg	p.Q3398R	BRCA2_ENST00000380152.3_Missense_Mutation_p.Q3398R	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	22	47	0	49	3398					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			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		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)		GAGAGTTCCCAGGCCAGTACG	0.398000			D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			1	1	1	1	1	1	1.000000	23	53	0	55	1	9.744524e-01	5	12	0	55	5
N4BP2L2	10443	broad.mit.edu	37	13	33109973	33109973	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33109973T>G	ENST00000267068.3	-	2	1356	c.1192A>C	c.(1192-1194)Aat>Cat	p.N398H	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N398H|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	6	76	0	72	398										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		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)		TGCAATTTATTTAACTTTTCC	0.373000													1	0	1	1	1	1	0.982129	7	78	0	75	1	9.849422e-01	12	75	0	75	4
N4BP2L2	10443	broad.mit.edu	37	13	33110531	33110531	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33110531T>G	ENST00000267068.3	-	2	798	c.634A>C	c.(634-636)Aat>Cat	p.N212H	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.N212H|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	19	39	0	38	212										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		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)		AAGAGACCATTATTATGACCC	0.348000													1	1	1	1	1	1	0.999999	20	42	0	41	1	9.999823e-01	17	28	0	41	5
N4BP2L2	10443	broad.mit.edu	37	13	33111120	33111120	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33111120T>G	ENST00000267068.3	-	2	209	c.45A>C	c.(43-45)gaA>gaC	p.E15D	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.E15D|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	12	26	0	31	15										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		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)		TCGTTACTTCTTCTCTAGGTC	0.313000													1	1	1	1	1	1	0.999808	13	29	0	38	1	9.994486e-01	13	21	0	38	5
PDS5B	23047	broad.mit.edu	37	13	33316752	33316752	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33316752T>C	ENST00000315596.10	+	23	2685	c.2499T>C	c.(2497-2499)gtT>gtC	p.V833V		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	17	34	0	38	833					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		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)		AAATGATGGTTCGATGGCTAC	0.308000													1	1	1	1	1	1	0.999999	20	34	0	38	1	9.952603e-01	15	4	0	38	5
PDS5B	23047	broad.mit.edu	37	13	33332303	33332303	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33332303A>C	ENST00000315596.10	+	27	3321	c.3135A>C	c.(3133-3135)gaA>gaC	p.E1045D		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	15	27	0	21	1045					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		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)		AGATGGTAGAAAATATTAAAC	0.264000													1	1	1	1	1	1	0.999993	17	28	0	22	1	9.997680e-01	5	25	0	22	5
STARD13	90627	broad.mit.edu	37	13	33703873	33703873	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:33703873G>A	ENST00000336934.5	-	5	1057	c.941C>T	c.(940-942)tCg>tTg	p.S314L	STARD13_ENST00000399365.3_Missense_Mutation_p.S196L|STARD13_ENST00000255486.4_Missense_Mutation_p.S306L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	35	64	0	124	314					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	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)		AGGTGGCGGCGAATTCTGGAG	0.602000													1	1	1	1	1	1	1.000000	37	69	0	131	0	0	0	1	0	131	5
CCNA1	8900	broad.mit.edu	37	13	37011779	37011779	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:37011779T>G	ENST00000418263.1	+	3	658	c.308T>G	c.(307-309)aTc>aGc	p.I103S	CCNA1_ENST00000255465.4_Missense_Mutation_p.I104S|CCNA1_ENST00000440264.1_Missense_Mutation_p.I60S|CCNA1_ENST00000449823.1_Missense_Mutation_p.I60S|CCNA1_ENST00000463403.1_3'UTR	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	34	71	0	126	104					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			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		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)		ATCACAAGAATCAGGTGTTAT	0.483000													1	1	1	1	1	1	1.000000	36	75	0	140	1	9.999999e-01	30	30	0	140	5
POSTN	10631	broad.mit.edu	37	13	38160307	38160307	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:38160307T>G	ENST00000379747.4	-	7	981	c.864A>C	c.(862-864)gaA>gaC	p.E288D	POSTN_ENST00000379743.4_Missense_Mutation_p.E288D|POSTN_ENST00000541481.1_Missense_Mutation_p.E288D|POSTN_ENST00000379749.4_Missense_Mutation_p.E288D|POSTN_ENST00000541179.1_Missense_Mutation_p.E288D|POSTN_ENST00000379742.4_Missense_Mutation_p.E288D	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	30	31	0	75	288	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		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)		CCATGATCCTTTCTAGGACAC	0.468000													1	1	1	1	1	1	1.000000	31	32	0	77	0	9.996137e-01	0	18	0	77	5
TRPC4	7223	broad.mit.edu	37	13	38211329	38211329	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:38211329C>A	ENST00000379705.3	-	11	3502	c.2645G>T	c.(2644-2646)aGa>aTa	p.R882I	TRPC4_ENST00000338947.5_Missense_Mutation_p.R709I|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.R733I|TRPC4_ENST00000379679.1_Missense_Mutation_p.R709I|TRPC4_ENST00000355779.2_Missense_Mutation_p.R741I|TRPC4_ENST00000379681.3_Missense_Mutation_p.R887I|TRPC4_ENST00000447043.1_Missense_Mutation_p.R741I|TRPC4_ENST00000358477.2_Missense_Mutation_p.R798I			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	13	41	0	50	882	Binds to ITPR1, ITPR2 and ITPR3.				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			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				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)		TTGAATATTTCTCTCAAGTGG	0.438000													1	1	1	1	1	1	0.999753	13	42	0	50	0	6.352087e-02	0	2	0	50	5
TRPC4	7223	broad.mit.edu	37	13	38320162	38320162	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:38320162T>G	ENST00000379705.3	-	3	1666	c.809A>C	c.(808-810)aAt>aCt	p.N270T	TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000426868.2_Missense_Mutation_p.N270T|TRPC4_ENST00000379673.2_Missense_Mutation_p.N270T|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000355779.2_Missense_Mutation_p.N270T|TRPC4_ENST00000379681.3_Missense_Mutation_p.N270T|TRPC4_ENST00000447043.1_Missense_Mutation_p.N270T|TRPC4_ENST00000358477.2_Missense_Mutation_p.N270T			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	10	125	0	135	270	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			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				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)		ATCTCGGTAATTAAGAATGAT	0.413000													1	1	1	1	0	1	0.997230	10	126	0	140	0	6.881451e-03	0	2	0	140	4
FREM2	341640	broad.mit.edu	37	13	39264612	39264612	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:39264612G>A	ENST00000280481.7	+	1	3347	c.3131G>A	c.(3130-3132)aGa>aAa	p.R1044K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	12	118	0	131	1044					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R1044I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		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)		CAAGAATGGAGAATTGGTGGC	0.448000													1	1	1	1	0	1	0.999618	13	128	0	141	0	2.834378e-02	1	2	0	141	4
FREM2	341640	broad.mit.edu	37	13	39265586	39265586	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:39265586A>C	ENST00000280481.7	+	1	4321	c.4105A>C	c.(4105-4107)Aat>Cat	p.N1369H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	20	45	0	76	1369					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		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)		ACTGGGCATGAATTTTACCCA	0.393000													1	1	1	1	1	1	1.000000	25	47	0	80	0	0	0	0	0	80	5
NHLRC3	387921	broad.mit.edu	37	13	39616246	39616246	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:39616246C>A	ENST00000379600.3	+	4	712	c.390C>A	c.(388-390)ttC>ttA	p.F130L	NHLRC3_ENST00000470258.1_5'UTR|NHLRC3_ENST00000379599.2_Intron	NM_001012754.2	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	15	18	0	25	130						extracellular region		p.F130L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		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)		TTATAGGATTCTTTGGTCATA	0.318000													1	1	1	1	1	1	0.999978	15	18	0	27	1	9.999346e-01	13	15	0	27	5
COG6	57511	broad.mit.edu	37	13	40261896	40261896	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:40261896G>T	ENST00000416691.1	+	10	1069	c.969G>T	c.(967-969)aaG>aaT	p.K323N	COG6_ENST00000455146.3_Missense_Mutation_p.K323N	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	10	31	0	35	323					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		CTTCTGAAAAGGAACACCTTG	0.368000													1	1	1	1	1	1	0.997930	10	37	0	37	1	9.382686e-01	8	13	0	37	5
KBTBD6	89890	broad.mit.edu	37	13	41706285	41706285	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41706285G>T	ENST00000379485.1	-	1	597	c.363C>A	c.(361-363)tcC>tcA	p.S121S	KBTBD6_ENST00000499385.2_Silent_p.S55S	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	23	42	0	109	121	BTB.						protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		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)		ACACCTCGAAGGACTCGGCGT	0.602000													1	1	1	1	0	1	1.000000	25	45	0	94	0	0	0	0	0	94	4
KBTBD6	89890	broad.mit.edu	37	13	41706525	41706525	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41706525C>A	ENST00000379485.1	-	1	357	c.123G>T	c.(121-123)aaG>aaT	p.K41N	KBTBD6_ENST00000499385.2_Missense_Mutation_p.K41N	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	81	138	0	215	41							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		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)		GGGCCGTGTCCTTTAATTCCT	0.607000													1	1	1	1	1	1	1.000000	87	146	0	230	0	3.164018e-01	1	2	0	230	5
KBTBD7	84078	broad.mit.edu	37	13	41767897	41767897	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41767897C>T	ENST00000379483.3	-	1	805	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	38	64	0	145	166							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		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)		GTCAAGACGTCGGGCTAAGAA	0.572000													1	1	1	1	0	1	1.000000	39	67	0	142	0	0	0	0	0	142	4
MTRF1	9617	broad.mit.edu	37	13	41834816	41834816	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41834816C>A	ENST00000379480.4	-	2	328	c.228G>T	c.(226-228)caG>caT	p.Q76H	MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000379477.1_Missense_Mutation_p.Q76H|MTRF1_ENST00000430347.2_Missense_Mutation_p.Q89H	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	19	93	0	138	76					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		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)		CCATATATTTCTGTAGTGCTT	0.423000													1	1	1	1	1	1	0.999999	21	97	0	151	1	7.983580e-01	2	14	0	151	5
NAA16	79612	broad.mit.edu	37	13	41933048	41933048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41933048C>T	ENST00000379406.3	+	12	1684	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	NAA16_ENST00000379367.3_Nonsense_Mutation_p.R454*	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	25	48	0	63	454					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.R454*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						ATACATGCTTCGAGCAAATAT	0.378000													1	1	1	1	1	1	1.000000	27	52	0	67	0	4.289353e-01	1	3	0	67	5
NAA16	79612	broad.mit.edu	37	13	41943339	41943339	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:41943339A>C	ENST00000379406.3	+	15	2191	c.1867A>C	c.(1867-1869)Aat>Cat	p.N623H	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	20	27	0	50	623					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						tcaacagaaaaatcaaaagaa	0.358000													1	1	1	1	1	1	1.000000	21	27	0	50	1	7.174377e-01	2	3	0	50	5
VWA8	23078	broad.mit.edu	37	13	42361621	42361621	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:42361621C>A	ENST00000379310.3	-	18	2190	c.2122G>T	c.(2122-2124)Gaa>Taa	p.E708*	VWA8_ENST00000281496.6_Nonsense_Mutation_p.E708*	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8	10	20	0	40																		GTATTTATTTCTATTGTAGCA	0.353000													1	1	1	1	1	1	0.999842	13	23	0	45	0	4.672657e-01	1	3	0	45	5
TSC22D1	8848	broad.mit.edu	37	13	45010884	45010884	+	Translation_Start_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:45010884A>C	ENST00000261489.2	-	0	97				TSC22D1_ENST00000458659.2_Intron|TSC22D1_ENST00000501704.2_Intron	NM_006022.3	NP_006013.1	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	12	43	0	49						transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		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)		CGGCAGCCCTAATTTAAAGAA	0.537000													0	0	1	1	1	1	0.999478	12	43	0	49	1	1	117	204	0	49	3
TSC22D1	8848	broad.mit.edu	37	13	45148935	45148935	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:45148935A>G	ENST00000458659.2	-	1	1766	c.1276T>C	c.(1276-1278)Tgc>Cgc	p.C426R	TSC22D1_ENST00000501704.2_Missense_Mutation_p.C426R	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	33	48	0	87	426					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		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)		AACTCAGTGCAAGTCCATCTA	0.403000													1	1	1	1	1	1	1.000000	33	50	0	87	1	9.618167e-01	6	5	0	87	5
KCTD4	386618	broad.mit.edu	37	13	45768375	45768375	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:45768375G>T	ENST00000405872.1	-	2	731	c.328C>A	c.(328-330)Ctt>Att	p.L110I	GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000379108.1_Missense_Mutation_p.L110I	NM_198404.2	NP_940686.2	Q8WVF5	KCTD4_HUMAN	potassium channel tetramerization domain containing 4	30	54	0	86	110	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		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)		TCTTGTGCAAGAAGTTGATTT	0.443000													1	1	1	1	1	1	1.000000	30	58	0	91	0	0	0	0	0	91	5
ZC3H13	23091	broad.mit.edu	37	13	46549910	46549910	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:46549910C>A	ENST00000242848.4	-	12	2324	c.1976G>T	c.(1975-1977)aGa>aTa	p.R659I	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R659I			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	3	46	0	51	659	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		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)		TTCCTCTCTTCTTTCATCACG	0.458000													0	0	0	0	1	1	0.812588	3	49	0	54	1	5.985990e-01	5	25	0	54	1
RB1	5925	broad.mit.edu	37	13	48937070	48937070	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:48937070G>T	ENST00000267163.4	+	8	976	c.838G>T	c.(838-840)Gaa>Taa	p.E280*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	22	41	0	44	280					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?(15)|p.?(6)|p.E280*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		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)	TCTCTGTAAAGAACATGAATG	0.333000		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	1	1	1	1	1	1.000000	23	47	0	49	0	0	0	1	0	49	5
RB1	5925	broad.mit.edu	37	13	48955517	48955517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:48955517G>T	ENST00000267163.4	+	17	1771	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	8	22	0	35	545	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.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		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)	CTTGACAAGAGAAATGATAAA	0.338000		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	1	1	1	0.992492	8	25	0	39	0	2.788051e-01	1	3	0	39	4
CYSLTR2	57105	broad.mit.edu	37	13	49281071	49281071	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:49281071T>G	ENST00000282018.3	+	1	121	c.118T>G	c.(118-120)Ttt>Gtt	p.F40V		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	16	36	0	64	40					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		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)	CAAGAGAGAATTTTTCCCAAT	0.398000													1	1	1	1	1	1	0.999975	16	41	0	67	0	0	0	0	0	67	5
FNDC3A	22862	broad.mit.edu	37	13	49776035	49776035	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:49776035T>C	ENST00000492622.2	+	24	3392	c.3087T>C	c.(3085-3087)gcT>gcC	p.A1029A	FNDC3A_ENST00000398316.3_Silent_p.A973A|FNDC3A_ENST00000541916.1_Silent_p.A1029A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	12	21	0	42	1029	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		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)		GTAATGAAGCTGGGGAAGGTC	0.373000													1	1	1	1	1	1	0.999648	12	23	0	45	1	9.999974e-01	33	33	0	45	5
CDADC1	81602	broad.mit.edu	37	13	49841919	49841919	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:49841919T>A	ENST00000251108.6	+	5	837	c.724T>A	c.(724-726)Tta>Ata	p.L242I	CDADC1_ENST00000444959.1_Missense_Mutation_p.L44I	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	6	15	0	30	242							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		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)		ATATGAAATGTTATTTTTGGT	0.289000													1	0	1	1	1	1	0.972347	6	17	0	31	0	2.010256e-01	1	2	0	31	4
ARL11	115761	broad.mit.edu	37	13	50204716	50204716	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:50204716G>T	ENST00000282026.1	+	2	468	c.133G>T	c.(133-135)Ggt>Tgt	p.G45C	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	28	56	0	103	45					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|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;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		GCCCACTGTTGGTTTCAACGT	0.622000													1	1	1	1	1	1	1.000000	30	59	0	105	0	1.184902e-01	0	2	0	105	5
CCDC70	83446	broad.mit.edu	37	13	52439882	52439882	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52439882A>C	ENST00000242819.4	+	2	664	c.368A>C	c.(367-369)aAa>aCa	p.K123T		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	65	118	0	201	123						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		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)		ACTTTCTGGAAAAAGTACCGC	0.468000													1	1	1	1	1	1	1.000000	72	124	0	222	0	0	1	0	0	222	5
ATP7B	540	broad.mit.edu	37	13	52548571	52548571	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52548571C>A	ENST00000242839.4	-	2	941	c.785G>T	c.(784-786)aGa>aTa	p.R262I	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.R262I|ATP7B_ENST00000400366.3_Missense_Mutation_p.R262I|ATP7B_ENST00000448424.2_Missense_Mutation_p.R262I|ATP7B_ENST00000418097.2_Missense_Mutation_p.R262I|ATP7B_ENST00000542656.1_Missense_Mutation_p.R230I|ATP7B_ENST00000344297.5_Missense_Mutation_p.R262I	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	24	66	0	105	262	HMA 3.				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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		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)		TCCATCTATTCTCAGTTGGAG	0.418000									Wilson disease				1	1	1	1	1	1	1.000000	25	71	0	113	0	7.235622e-02	0	2	0	113	5
UTP14C	9724	broad.mit.edu	37	13	52604309	52604309	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52604309G>A	ENST00000521776.2	+	2	2102	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	50	101	0	167	457					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		p.E457K(1)		breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		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)		GGTGCTGTCCGAATTGAGGGC	0.483000													1	1	1	1	1	1	1.000000	56	106	0	173	1	9.744540e-01	6	8	0	173	5
THSD1	55901	broad.mit.edu	37	13	52971819	52971819	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52971819G>A	ENST00000349258.4	-	3	1113	c.569C>T	c.(568-570)aCc>aTc	p.T190I	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.T190I	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	15	38	0	45	190						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		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)		CCTTTTGCTGGTTCTTATTTC	0.517000													1	1	1	1	1	1	0.999948	15	40	0	46	1	7.468607e-01	4	5	0	46	5
THSD1	55901	broad.mit.edu	37	13	52976790	52976790	+	Translation_Start_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:52976790G>T	ENST00000349258.4	-	0	490				THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_De_novo_Start_OutOfFrame	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	10	15	0	13							extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		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)		CTCACGTCCAGATTGTGATTT	0.343000													0	0	1	1	1	1	0.999439	11	15	0	13	0	0	0	0	0	13	3
PCDH8	5100	broad.mit.edu	37	13	53419685	53419685	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:53419685G>T	ENST00000377942.3	-	2	2917	c.2714C>A	c.(2713-2715)tCt>tAt	p.S905Y	PCDH8_ENST00000338862.4_Missense_Mutation_p.S808Y	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	5	54	0	76	905					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		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)		TTCTCTGCCAGAAATGGTGTT	0.577000													1	1	1	1	0	1	0.940233	5	57	0	79	0	0	0	0	0	79	4
PCDH17	27253	broad.mit.edu	37	13	58206862	58206862	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:58206862C>T	ENST00000377918.3	+	1	208	c.182C>T	c.(181-183)tCg>tTg	p.S61L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	14	26	0	47	61	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGCAGCAAGTCGGGTAGCTAC	0.692000													1	1	1	1	1	1	0.999962	15	28	0	47	0	0	0	0	0	47	5
DIAPH3	81624	broad.mit.edu	37	13	60348377	60348377	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:60348377G>A	ENST00000400324.4	-	27	3485	c.3265C>T	c.(3265-3267)Cgg>Tgg	p.R1089W	DIAPH3_ENST00000377908.2_Missense_Mutation_p.R1078W|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R1089W|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R1019W|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R1043W|DIAPH3_ENST00000400330.1_Missense_Mutation_p.R1089W	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	19	28	0	41	1089					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGACTCTGCCGAACATCTGtt	0.323000													1	1	1	1	1	1	0.999999	20	29	0	44	1	9.998126e-01	17	10	0	44	5
PCDH20	64881	broad.mit.edu	37	13	61986041	61986041	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:61986041G>T	ENST00000409186.1	-	5	4296	c.2191C>A	c.(2191-2193)Ctc>Atc	p.L731I	PCDH20_ENST00000409204.4_Missense_Mutation_p.L731I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	50	84	0	162	704	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCTAGAAGGAGAATTGTGATT	0.463000													1	1	1	1	1	1	1.000000	52	95	0	173	0	0	0	0	0	173	5
PCDH20	64881	broad.mit.edu	37	13	61987061	61987061	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:61987061G>A	ENST00000409186.1	-	5	3276	c.1171C>T	c.(1171-1173)Ctg>Ttg	p.L391L	PCDH20_ENST00000409204.4_Silent_p.L391L			Q8N6Y1	PCD20_HUMAN	protocadherin 20	41	72	0	105	364	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TGGGACTCCAGAACACTTCCT	0.423000													1	1	1	1	1	1	1.000000	43	79	0	109	0	0	0	0	0	109	5
PCDH20	64881	broad.mit.edu	37	13	61987509	61987509	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:61987509A>C	ENST00000409186.1	-	5	2828	c.723T>G	c.(721-723)atT>atG	p.I241M	PCDH20_ENST00000409204.4_Missense_Mutation_p.I241M			Q8N6Y1	PCD20_HUMAN	protocadherin 20	47	79	0	146	214	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTACCCCATTAATGCCTACAT	0.532000													1	1	1	1	1	1	1.000000	49	82	0	153	0	0	0	0	0	153	5
PCDH9	5101	broad.mit.edu	37	13	67802265	67802265	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:67802265T>G	ENST00000544246.1	-	2	999	c.308A>C	c.(307-309)tAt>tCt	p.Y103S	PCDH9_ENST00000456367.1_Missense_Mutation_p.Y103S|PCDH9_ENST00000328454.5_Missense_Mutation_p.Y103S|PCDH9_ENST00000377865.2_Missense_Mutation_p.Y103S|PCDH9_ENST00000377861.3_Missense_Mutation_p.Y103S	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	25	46	0	73	103	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTCCTCAGCATATGAGGCGCC	0.438000													1	1	1	1	1	1	1.000000	27	50	0	77	0	0	0	0	0	77	5
PIBF1	10464	broad.mit.edu	37	13	73467988	73467988	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:73467988A>C	ENST00000326291.6	+	11	1727	c.1389A>C	c.(1387-1389)aaA>aaC	p.K463N		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	13	32	0	46	463						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTAAATTAAAATCTTTTGAAA	0.348000													1	1	1	1	1	1	0.999780	13	35	0	49	1	9.951561e-01	14	15	0	49	5
SCEL	8796	broad.mit.edu	37	13	78130826	78130826	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:78130826A>C	ENST00000535157.1	+	3	309	c.139A>C	c.(139-141)Aag>Cag	p.K47Q	SCEL_ENST00000349847.3_Missense_Mutation_p.K47Q|SCEL_ENST00000377246.3_Missense_Mutation_p.K47Q	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	16	126	0	153	47					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CAGTTGGATAAAGAAACGCCC	0.468000													1	1	1	1	1	1	0.999950	16	134	0	165	0	1.021406e-01	0	5	0	165	5
SCEL	8796	broad.mit.edu	37	13	78173503	78173503	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:78173503G>T	ENST00000535157.1	+	13	941	c.771G>T	c.(769-771)aaG>aaT	p.K257N	SCEL_ENST00000349847.3_Missense_Mutation_p.K279N|SCEL_ENST00000377246.3_Missense_Mutation_p.K259N|SCEL_ENST00000469982.1_Intron	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	9	21	0	23	279	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		CAAATCCAAAGGTAGAAGAAA	0.368000													1	1	1	1	1	1	0.998225	10	26	0	26	1	7.546322e-01	8	1	0	26	5
SCEL	8796	broad.mit.edu	37	13	78202083	78202083	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:78202083G>A	ENST00000535157.1	+	26	1674	c.1502_splice	c.e26-1	p.D502_splice	SCEL_ENST00000349847.3_Splice_Site_p.D544_splice|SCEL_ENST00000377246.3_Splice_Site_p.D524_splice	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	14	15	0	30	544	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TTTCCTTAGAGACCAGAACCT	0.249000													1	1	1	1	1	1	0.999954	14	16	0	32	1	9.951501e-01	5	10	0	32	5
RNF219	79596	broad.mit.edu	37	13	79213182	79213182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:79213182C>A	ENST00000282003.6	-	4	383	c.325G>T	c.(325-327)Gaa>Taa	p.E109*		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	11	38	0	56	109							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TCTTCTACTTCTTTCTGTAAA	0.383000													1	1	1	1	1	1	0.998969	11	39	0	61	1	6.312965e-01	4	5	0	61	5
SLITRK1	114798	broad.mit.edu	37	13	84454060	84454060	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:84454060C>T	ENST00000377084.2	-	1	2468	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	25	37	0	81	528						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCAGGGGTTTCCGTGGAGGTC	0.552000													1	1	1	1	1	1	1.000000	27	42	0	91	0	0	0	0	0	91	5
SLITRK1	114798	broad.mit.edu	37	13	84454778	84454778	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:84454778G>T	ENST00000377084.2	-	1	1750	c.865C>A	c.(865-867)Cct>Act	p.P289T		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	14	32	0	57	289						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTCTTGAAAGGAGTTGGCAGG	0.542000													1	1	1	1	1	1	0.999956	15	33	0	62	0	0	0	0	0	62	5
SLITRK5	26050	broad.mit.edu	37	13	88328028	88328028	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:88328028C>T	ENST00000325089.6	+	2	604	c.385C>T	c.(385-387)Cgg>Tgg	p.R129W	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	45	78	0	130	129						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCATGGGCTACGGGGTTTGAG	0.448000													1	1	1	1	1	1	1.000000	48	79	0	139	1	8.063783e-01	5	2	0	139	5
SLITRK5	26050	broad.mit.edu	37	13	88330517	88330517	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:88330517C>A	ENST00000325089.6	+	2	3093	c.2874C>A	c.(2872-2874)ttC>ttA	p.F958L	SLITRK5_ENST00000400028.3_Missense_Mutation_p.F717L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	31	64	0	115	958						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTAGCCAGTTCTAAAAGCAAA	0.398000													1	1	1	1	1	1	1.000000	34	66	0	125	1	9.998973e-01	17	16	0	125	5
DCT	1638	broad.mit.edu	37	13	95121172	95121172	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:95121172G>T	ENST00000377028.5	-	2	836	c.423C>A	c.(421-423)ttC>ttA	p.F141L	DCT_ENST00000446125.1_Missense_Mutation_p.F141L	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	98	175	0	313	141					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	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)		AGGCGCCCAAGAACTGCTCTC	0.567000													1	1	1	1	1	1	1.000000	106	186	0	342	0	0	0	0	0	342	5
TGDS	23483	broad.mit.edu	37	13	95231015	95231015	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:95231015A>C	ENST00000261296.5	-	8	748	c.628T>G	c.(628-630)Ttt>Gtt	p.F210V	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	6	53	0	29	210					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					AAAGATATAAATTTTGGAATA	0.274000													1	0	1	1	1	1	0.995241	9	62	0	35	1	9.898310e-01	16	44	0	35	4
ABCC4	10257	broad.mit.edu	37	13	95847160	95847160	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:95847160C>T	ENST00000376887.4	-	9	1307	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.R323H|ABCC4_ENST00000431522.1_Missense_Mutation_p.R398H|ABCC4_ENST00000412704.1_Missense_Mutation_p.R398H	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	5	25	0	36	398					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			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTGACGGTTGCGCTGTGATAT	0.378000													1	0	1	1	1	1	0.969998	6	27	0	43	1	4.815468e-01	3	5	0	43	4
UGGT2	55757	broad.mit.edu	37	13	96555127	96555127	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:96555127A>C	ENST00000376747.3	-	21	2553	c.2483T>G	c.(2482-2484)aTt>aGt	p.I828S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	19	40	0	59	828					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GAATGTTTTAATTTTATCTCC	0.318000													1	1	1	1	1	1	0.999999	20	43	0	64	1	9.790484e-01	6	11	0	64	5
UGGT2	55757	broad.mit.edu	37	13	96589253	96589253	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:96589253A>C	ENST00000376747.3	-	17	1972	c.1902T>G	c.(1900-1902)aaT>aaG	p.N634K		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	16	55	0	63	634					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTTCTTTAATATTCATCTCTT	0.338000													1	1	1	1	1	1	0.999993	18	60	0	64	1	3.414090e-01	2	3	0	64	5
STK24	8428	broad.mit.edu	37	13	99127579	99127579	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:99127579C>T	ENST00000397517.2	-	4	440	c.364G>A	c.(364-366)Gct>Act	p.A122T	STK24_ENST00000376547.3_Missense_Mutation_p.A134T|STK24_ENST00000539966.1_Missense_Mutation_p.A103T	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	10	28	0	47	134	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AATATAGTAGCGATCTGGGTT	0.333000													1	1	1	1	1	1	0.999078	11	31	0	51	1	1	87	132	0	51	5
DOCK9	23348	broad.mit.edu	37	13	99667807	99667807	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:99667807C>A	ENST00000448493.2	-	1	166	c.56G>T	c.(55-57)aGa>aTa	p.R19I	DOCK9_ENST00000339416.2_Intron			Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	11	20	0	43	0					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGCACAGTTTCTTTCAAAAAC	0.398000													1	1	1	1	1	1	0.999648	12	23	0	49	0	0	0	1	0	49	5
TM9SF2	9375	broad.mit.edu	37	13	100188971	100188971	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:100188971A>G	ENST00000376387.4	+	5	761	c.571A>G	c.(571-573)Aaa>Gaa	p.K191E	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	17	23	0	41	191					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AGGCCATGCAAAAGATGCCTG	0.363000													1	1	1	1	1	1	0.999995	17	23	0	45	1	1	91	110	0	45	5
CLYBL	171425	broad.mit.edu	37	13	100518526	100518526	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:100518526C>A	ENST00000376355.3	+	5	596	c.565C>A	c.(565-567)Ctc>Atc	p.L189I	CLYBL_ENST00000376360.1_Missense_Mutation_p.L223I|CLYBL_ENST00000339105.4_Missense_Mutation_p.L223I|CLYBL_ENST00000444838.2_Missense_Mutation_p.L189I|CLYBL_ENST00000376354.1_Missense_Mutation_p.L189I	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	38	64	0	126	223					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTGGATATTCTCTACGCCCG	0.428000													1	1	1	1	1	1	1.000000	47	76	0	146	1	9.557627e-01	5	6	0	146	5
ZIC5	85416	broad.mit.edu	37	13	100617759	100617759	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:100617759C>A	ENST00000267294.4	-	2	2097	c.1864G>T	c.(1864-1866)Gag>Tag	p.E622*		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	37	59	0	135	622					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACGTACCACTCATTGAGGTTG	0.607000													1	1	1	1	1	1	1.000000	40	61	0	139	1	3.505975e-01	2	1	0	139	5
TMTC4	84899	broad.mit.edu	37	13	101258625	101258625	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:101258625G>T	ENST00000342624.5	-	18	2379	c.2121C>A	c.(2119-2121)taC>taA	p.Y707*	TMTC4_ENST00000376234.3_Nonsense_Mutation_p.Y688*|TMTC4_ENST00000328767.5_Nonsense_Mutation_p.Y577*	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	12	17	0	26	688						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AATTACCATGGTAACTTGCAG	0.313000													1	1	1	1	1	1	0.999855	13	21	0	30	1	9.830963e-01	5	10	0	30	5
FGF14	2259	broad.mit.edu	37	13	102378997	102378997	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:102378997T>G	ENST00000376131.4	-	4	682	c.587A>C	c.(586-588)aAa>aCa	p.K196T	FGF14_ENST00000376143.4_Missense_Mutation_p.K191T	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	26	37	0	65	191					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCTGCTGGTTTGGTTTTCTT	0.358000													1	1	1	1	1	1	1.000000	29	43	0	69	0	0	0	0	0	69	5
FGF14	2259	broad.mit.edu	37	13	102379130	102379130	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:102379130C>A	ENST00000376131.4	-	4	549	c.454G>T	c.(454-456)Gaa>Taa	p.E152*	FGF14_ENST00000376143.4_Nonsense_Mutation_p.E147*	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	3	19	0	30	147					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.E147*(1)|p.E152*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAACAGATTCTTTAAACTTG	0.358000													1	0	1	1	1	1	0.944924	5	19	0	35	0	0	0	0	0	35	4
TPP2	7174	broad.mit.edu	37	13	103299592	103299592	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:103299592A>G	ENST00000376052.3	+	21	2542	c.2526A>G	c.(2524-2526)ctA>ctG	p.L842L	TPP2_ENST00000376065.4_Silent_p.L842L			P29144	TPP2_HUMAN	tripeptidyl peptidase II	8	22	0	28	842					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTGCCCACTACTTTGTGAAC	0.358000													1	1	1	1	1	1	0.992492	8	25	0	29	1	9.991032e-01	21	30	0	29	5
METTL21C	196541	broad.mit.edu	37	13	103343277	103343277	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:103343277C>A	ENST00000267273.6	-	2	173	c.168G>T	c.(166-168)caG>caT	p.Q56H		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	19	45	0	62	56							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						GAACAAATTTCTGGAGGCTAT	0.418000													1	1	1	1	1	1	1.000000	27	50	0	65	0	0	0	0	0	65	5
TEX30	93081	broad.mit.edu	37	13	103419691	103419691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:103419691C>A	ENST00000376019.1	-	3	1149	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	TEX30_ENST00000376021.4_Nonsense_Mutation_p.E105*|TEX30_ENST00000376032.4_Nonsense_Mutation_p.E146*|TEX30_ENST00000376027.1_Intron|TEX30_ENST00000376029.3_Intron|TEX30_ENST00000376022.1_Intron			Q5JUR7	CM027_HUMAN	testis expressed 30	5	56	0	59	146								p.E105*(2)|p.E146*(2)		lung(1)|urinary_tract(1)	2						AAGAGGTCTTCATCTCTGAGT	0.408000													1	0	1	1	0	1	0.940188	5	58	0	65	0	9.603756e-01	0	73	0	65	3
LIG4	3981	broad.mit.edu	37	13	108862660	108862660	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:108862660G>T	ENST00000356922.4	-	2	1229	c.957C>A	c.(955-957)ttC>ttA	p.F319L	LIG4_ENST00000405925.1_Missense_Mutation_p.F319L|LIG4_ENST00000442234.1_Missense_Mutation_p.F319L	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	22	41	0	51	319					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			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TATCTGCTTTGAATGCATTAT	0.333000								Non-homologous end-joining					1	1	1	1	1	1	1.000000	23	43	0	55	0	4.414724e-01	1	3	0	55	5
TNFSF13B	10673	broad.mit.edu	37	13	108922412	108922412	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:108922412C>T	ENST00000375887.4	+	1	347	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	TNFSF13B_ENST00000430559.1_Silent_p.L57L|TNFSF13B_ENST00000542136.1_Silent_p.L57L	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	30	147	0	209	57					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	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)			GCTGGCACTGCTGTCTTGCTG	0.622000													1	1	1	1	1	1	1.000000	31	165	0	241	0	1.267352e-01	1	3	0	241	5
COL4A1	1282	broad.mit.edu	37	13	110829261	110829261	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:110829261T>G	ENST00000375820.4	-	34	2961	c.2840A>C	c.(2839-2841)aAg>aCg	p.K947T		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	16	57	0	78	947	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	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)			TTTCTGGCCCTTCATGCTGCC	0.577000													1	1	1	1	1	1	0.999998	20	60	0	83	1	9.999999e-01	9	93	0	83	5
PROZ	8858	broad.mit.edu	37	13	113824786	113824786	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:113824786T>G	ENST00000342783.4	+	8	706	c.699T>G	c.(697-699)aaT>aaG	p.N233K	PROZ_ENST00000375547.2_Missense_Mutation_p.N211K|PROZ_ENST00000493630.1_3'UTR	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	14	27	0	35	211	Peptidase S1.				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			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	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)	TACGGGAAAATTTTGTACTGA	0.299000													1	1	1	1	1	1	0.999982	16	30	0	35	0	0	0	0	0	35	5
CDC16	8881	broad.mit.edu	37	13	115030682	115030682	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:115030682G>A	ENST00000360383.3	+	17	1768	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	CDC16_ENST00000375310.1_Missense_Mutation_p.E430K|CDC16_ENST00000252457.5_Missense_Mutation_p.E523K|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000375312.3_Missense_Mutation_p.E379K|CDC16_ENST00000252458.6_Missense_Mutation_p.E379K|CDC16_ENST00000375308.1_Missense_Mutation_p.E430K|CDC16_ENST00000356221.3_Missense_Mutation_p.E524K	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	35	64	0	111	524					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	p.E523K(1)		endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	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)			TCATTGCATCGAAATGTACAT	0.333000													1	1	1	1	1	1	1.000000	38	71	0	130	1	1	68	93	0	130	5
POTEG	404785	broad.mit.edu	37	14	19553564	19553564	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:19553564G>A	ENST00000409832.3	+	1	200	c.148G>A	c.(148-150)Gac>Aac	p.D50N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	88	603	0	985	50										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGAGACCACGACGATTCTGC	0.607000													1	0	1	1	0	1	1.000000	95	649	0	710	0	0	0	0	0	710	3
OR4N2	390429	broad.mit.edu	37	14	20295871	20295871	+	Silent	SNP	G	G	A	rs144051874	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20295871G>A	ENST00000568211.1	+	1	264	c.264G>A	c.(262-264)gcG>gcA	p.A88A	OR4N2_ENST00000315947.1_Silent_p.A88A			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	56	289	1	323	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCTCTCTGCGAAGAAGATAA	0.517000													1	0	1	1	1	1	1.000000	62	307	1	331	0	0	0	0	1	331	4
OR11H6	122748	broad.mit.edu	37	14	20692492	20692492	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20692492C>A	ENST00000315519.2	+	1	702	c.624C>A	c.(622-624)atC>atA	p.I208I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	12	24	0	28	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TGGCCTGCATCTCTGCTCCTT	0.498000													1	1	1	1	1	1	0.999836	13	24	0	34	0	0	0	0	0	34	5
OR11H6	122748	broad.mit.edu	37	14	20692796	20692796	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20692796C>A	ENST00000315519.2	+	1	1006	c.928C>A	c.(928-930)Ctt>Att	p.L310I		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	40	75	0	118	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATCTATAGTCTTCGAAACAA	0.418000													1	1	1	1	1	1	1.000000	42	84	0	128	0	0	0	0	0	128	5
TTC5	91875	broad.mit.edu	37	14	20760161	20760161	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20760161C>T	ENST00000258821.3	-	9	1240	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	19	33	0	48	395					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		GTGCTGAATTCGGTGAAGCCG	0.448000													1	1	1	1	1	1	0.999999	20	35	0	49	1	9.999895e-01	16	27	0	49	5
TTC5	91875	broad.mit.edu	37	14	20763928	20763928	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20763928C>T	ENST00000258821.3	-	7	838	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	46	69	0	121	261					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CTCTCGTTGCCGGGGCTCTGG	0.493000													1	1	1	1	1	1	1.000000	47	73	0	130	1	9.999947e-01	19	16	0	130	5
PARP2	10038	broad.mit.edu	37	14	20825862	20825862	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20825862C>G	ENST00000250416.5	+	16	1685	c.1658C>G	c.(1657-1659)aCc>aGc	p.T553S	PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_Missense_Mutation_p.T540S	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	17	54	0	97	553	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	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)		GATGGTTATACCCTCAACTAC	0.413000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					1	1	1	1	1	1	0.999997	19	58	0	100	1	9.999950e-01	21	53	0	100	5
TEP1	7011	broad.mit.edu	37	14	20872882	20872882	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20872882T>G	ENST00000262715.5	-	5	960	c.920A>C	c.(919-921)aAc>aCc	p.N307T	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	19	64	0	88	307	TROVE.		N -> K (in dbSNP:rs1760898).		telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	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)		GGCCAAGATGTTATTGGCCAC	0.552000													1	1	1	1	1	1	0.999998	20	70	0	96	0	5.399719e-02	0	2	0	96	5
APEX1	328	broad.mit.edu	37	14	20925288	20925288	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20925288G>A	ENST00000216714.3	+	5	846	c.578G>A	c.(577-579)cGc>cAc	p.R193H	APEX1_ENST00000557054.1_Missense_Mutation_p.A12T|APEX1_ENST00000555414.1_Missense_Mutation_p.R193H|APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000398030.4_Missense_Mutation_p.R193H	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	18	29	0	50	193					base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity	p.R193H(1)		breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	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)	Lucanthone(DB04967)	GAAGCCTTTCGCAAGTTCCTG	0.542000								Other BER factors					1	1	1	1	1	1	0.999997	18	29	0	56	1	1	254	291	0	56	5
RNASE10	338879	broad.mit.edu	37	14	20979224	20979224	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:20979224A>C	ENST00000430083.1	+	2	1082	c.678A>C	c.(676-678)aaA>aaC	p.K226N	RNASE10_ENST00000328444.5_Missense_Mutation_p.K198N			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	15	19	0	36	198						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	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)		CTGTTATAAAAAAGCACATTA	0.413000													1	1	1	1	1	1	0.999988	16	21	0	40	0	0	0	0	0	40	5
METTL17	64745	broad.mit.edu	37	14	21460309	21460309	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21460309C>T	ENST00000339374.6	+	4	624	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	METTL17_ENST00000556670.2_Missense_Mutation_p.R131C|METTL17_ENST00000382985.4_Missense_Mutation_p.R131C|METTL17_ENST00000555177.1_3'UTR	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	32	57	0	100	131					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						GGAGAAACTTCGTGGAGCAGT	0.483000													1	1	1	1	1	1	1.000000	39	64	0	120	1	1	29	43	0	120	5
ARHGEF40	55701	broad.mit.edu	37	14	21542507	21542507	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21542507C>T	ENST00000298694.4	+	3	745	c.618C>T	c.(616-618)ccC>ccT	p.P206P	ARHGEF40_ENST00000298693.3_Silent_p.P206P			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	18	42	0	64	206					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CAGAACTGCCCTCTGGACCTC	0.622000													1	1	1	1	1	1	0.999994	18	49	0	67	0	7.867495e-02	0	2	0	67	5
RPGRIP1	57096	broad.mit.edu	37	14	21793213	21793213	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21793213C>T	ENST00000206660.6	+	14	2199	c.2199C>T	c.(2197-2199)ggC>ggT	p.G733G	RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000307974.4_Silent_p.G92G|RPGRIP1_ENST00000557771.1_Silent_p.G695G|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Silent_p.G733G			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	32	75	0	92	733					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	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)		AAGTCCATGGCTTGGCCACAC	0.512000													1	1	1	1	1	1	1.000000	34	83	0	105	0	0	0	0	0	105	5
RPGRIP1	57096	broad.mit.edu	37	14	21795831	21795831	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21795831A>C	ENST00000206660.6	+	17	2760	c.2760A>C	c.(2758-2760)caA>caC	p.Q920H	RPGRIP1_ENST00000307974.4_Missense_Mutation_p.Q279H|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q882H|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.Q246H|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q577H|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.Q920H			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	27	34	0	64	920					response to stimulus|visual perception	cilium		p.Q920H(1)|p.Q536H(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	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)		GATCTATTCAAGTGCAACTGG	0.428000													1	1	1	1	1	1	1.000000	32	35	0	76	0	0	0	0	0	76	5
SUPT16H	11198	broad.mit.edu	37	14	21828672	21828672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21828672G>A	ENST00000216297.2	-	18	2415	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	20	46	0	75	693					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			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTGTCTCCTCGAACAGATGTG	0.408000													1	1	1	1	1	1	0.999999	21	52	0	85	1	1	5	103	0	85	5
CHD8	57680	broad.mit.edu	37	14	21859710	21859710	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21859710A>C	ENST00000399982.2	-	35	7041	c.6977T>G	c.(6976-6978)cTg>cGg	p.L2326R	CHD8_ENST00000557364.1_Missense_Mutation_p.L2326R|CHD8_ENST00000430710.3_Missense_Mutation_p.L2047R	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	12	28	0	50	2326					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTCACCCACCAGCAAAGTACC	0.552000													1	1	1	1	1	1	0.999808	13	29	0	54	1	1	57	54	0	54	5
CHD8	57680	broad.mit.edu	37	14	21870219	21870219	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21870219T>C	ENST00000399982.2	-	19	4023	c.3959A>G	c.(3958-3960)gAt>gGt	p.D1320G	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.D1320G|CHD8_ENST00000430710.3_Missense_Mutation_p.D1041G	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	33	43	0	86	1320					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGAGCCTTCATCATCTTCCTC	0.393000													1	1	1	1	1	1	1.000000	34	46	0	88	1	9.999918e-01	13	19	0	88	5
CHD8	57680	broad.mit.edu	37	14	21870647	21870647	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:21870647G>T	ENST00000399982.2	-	18	3794	c.3730C>A	c.(3730-3732)Cat>Aat	p.H1244N	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.H1244N|CHD8_ENST00000430710.3_Missense_Mutation_p.H965N	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	9	23	0	30	1244	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			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCAATTCGATGACATCGTGCC	0.418000													0	0	1	0	0	1	0.996349	9	25	0	31	1	9.986129e-01	21	20	0	31	1
SLC7A7	9056	broad.mit.edu	37	14	23242890	23242890	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23242890A>G	ENST00000397532.3	-	10	1990	c.1465T>C	c.(1465-1467)Tca>Cca	p.S489P	SLC7A7_ENST00000285850.7_Missense_Mutation_p.S489P|SLC7A7_ENST00000397528.4_Missense_Mutation_p.S489P|SLC7A7_ENST00000397529.2_Missense_Mutation_p.S489P|SLC7A7_ENST00000555702.1_Missense_Mutation_p.S489P|SLC7A7_ENST00000554517.1_Missense_Mutation_p.S223P|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	19	35	0	53	489			S -> P (in LPI).		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			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GCAGCAACTGACATACACAGG	0.478000													1	1	1	1	1	1	1.000000	21	38	0	60	1	9.999812e-01	2	39	0	60	5
CMTM5	0	broad.mit.edu	37	14	23847687	23847687	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23847687G>A	ENST00000359320.3	+	2	700	c.256G>A	c.(256-258)Gac>Aac	p.D86N	CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000339180.4_Missense_Mutation_p.D86N|CMTM5_ENST00000382809.2_Missense_Mutation_p.D86N|CMTM5_ENST00000555731.1_Missense_Mutation_p.D48N	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	64	104	0	167	86	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CCAGCGCTTCGACCGAATTAA	0.567000													1	1	1	1	1	1	1.000000	71	113	0	202	0	0	0	0	0	202	5
MYH6	4624	broad.mit.edu	37	14	23874928	23874928	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23874928C>T	ENST00000405093.3	-	4	323	c.253G>A	c.(253-255)Gac>Aac	p.D85N	MYH6_ENST00000356287.3_Missense_Mutation_p.D85N	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	33	74	0	117	85	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			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCAATCTTGTCGAACTTGGGT	0.582000													1	1	1	1	1	1	1.000000	35	82	0	135	0	0	0	0	0	135	5
MYH7	4625	broad.mit.edu	37	14	23902789	23902789	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:23902789G>A	ENST00000355349.3	-	3	315	c.153C>T	c.(151-153)atC>atT	p.I51I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	25	47	0	67	51	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			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTCGAGACACGATCTTGGCCT	0.557000													1	0	1	1	1	1	0.999990	26	50	1	73	0	0	0	0	1	73	4
JPH4	84502	broad.mit.edu	37	14	24040637	24040637	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24040637C>T	ENST00000397118.3	-	6	2205	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	JPH4_ENST00000356300.4_Missense_Mutation_p.D435N|JPH4_ENST00000544177.1_Missense_Mutation_p.D100N	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	19	42	0	69	435					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGCTCCGTGTCGGAACCTTCT	0.617000													1	1	1	1	1	1	1.000000	22	47	0	76	0	2.499839e-01	0	3	0	76	5
LRRC16B	90668	broad.mit.edu	37	14	24528924	24528924	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24528924C>T	ENST00000342740.5	+	22	2005	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	8	25	0	32	617										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TCCTGGACATCGCAAGGGCCC	0.597000													1	1	0	1	1	1	0.992313	8	27	0	37	0	0	0	0	0	37	4
LRRC16B	90668	broad.mit.edu	37	14	24533552	24533552	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24533552C>A	ENST00000342740.5	+	32	3231	c.3077C>A	c.(3076-3078)tCt>tAt	p.S1026Y	LRRC16B_ENST00000334420.7_Missense_Mutation_p.S122Y	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	3	9	0	15	1026										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GAGGAAAGTTCTAGGTGTGAT	0.582000													0	0	1	1	1	1	0.950983	5	9	0	16	0	0	0	0	0	16	3
RIPK3	11035	broad.mit.edu	37	14	24808484	24808484	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24808484C>A	ENST00000216274.5	-	3	426	c.208G>T	c.(208-210)Gaa>Taa	p.E70*	RIPK3_ENST00000554338.1_5'UTR	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	37	63	1	88	70	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		AGCACGAATTCGTTATCCAGA	0.562000													1	0	1	1	1	1	1.000000	42	64	1	94	0	9.882103e-01	1	13	1	94	4
NFATC4	4776	broad.mit.edu	37	14	24836377	24836377	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24836377T>A	ENST00000413692.2	+	1	261	c.117T>A	c.(115-117)ttT>ttA	p.F39L	NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554591.1_Missense_Mutation_p.F39L	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	13	40	0	61	0					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			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGCCTGACTTTCCCGGAAACT	0.627000													1	1	1	1	1	1	0.999881	14	42	0	61	0	0	0	0	0	61	5
CMA1	1215	broad.mit.edu	37	14	24975706	24975706	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:24975706G>T	ENST00000250378.3	-	3	343	c.314C>A	c.(313-315)tCt>tAt	p.S105Y	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_5'UTR	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	44	73	0	94	105	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GTGAAGAGTAGAAGTGTTATA	0.433000													1	1	1	1	1	1	1.000000	49	78	0	106	0	0	0	1	0	106	5
GZMB	3002	broad.mit.edu	37	14	25101296	25101296	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:25101296G>T	ENST00000216341.4	-	4	474	c.368C>A	c.(367-369)gCt>gAt	p.A123D	GZMB_ENST00000382540.1_Missense_Mutation_p.A78D|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000415355.3_Missense_Mutation_p.A111D|GZMB_ENST00000382542.1_Missense_Mutation_p.A157D|GZMB_ENST00000526004.1_Missense_Mutation_p.L78M|RP11-104E19.1_ENST00000557736.1_RNA			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	12	46	0	61	123	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			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GGGCTGCACAGCTCTGGTCCG	0.637000													1	1	1	1	1	1	0.999440	12	50	0	61	0	9.999178e-01	0	82	0	61	5
G2E3	55632	broad.mit.edu	37	14	31077225	31077225	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31077225C>T	ENST00000206595.6	+	12	1604	c.1450C>T	c.(1450-1452)Cca>Tca	p.P484S	G2E3_ENST00000438909.2_Missense_Mutation_p.P438S|G2E3_ENST00000553504.1_Missense_Mutation_p.P514S	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	4	64	0	75	484	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						AAATACCCAGCCAATTTTAGA	0.363000													1	0	1	1	0	1	0.939658	5	73	0	90	0	5.170032e-01	0	24	0	90	3
COCH	1690	broad.mit.edu	37	14	31354209	31354209	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31354209G>A	ENST00000382493.4	+	3	348	c.248G>A	c.(247-249)aGt>aAt	p.S83N	COCH_ENST00000475087.1_Intron|COCH_ENST00000460581.2_Intron|COCH_ENST00000396618.3_Intron|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Intron|RP11-829H16.3_ENST00000555421.1_RNA			O43405	COCH_HUMAN	cochlin	39	69	0	113	244	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	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)		GAAAGAATGAGTAGCACTACC	0.383000													1	1	1	1	0	1	1.000000	43	76	0	128	1	9.999806e-01	2	33	0	128	4
HECTD1	25831	broad.mit.edu	37	14	31585633	31585633	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31585633G>A	ENST00000399332.1	-	30	5915	c.5427C>T	c.(5425-5427)gtC>gtT	p.V1809V	HECTD1_ENST00000553700.1_Silent_p.V1809V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	22	31	0	65	1809					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	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)		GAGTACATTCGACTTCTTCCA	0.418000													1	1	1	1	1	1	1.000000	24	34	0	71	1	9.999752e-01	15	17	0	71	5
HECTD1	25831	broad.mit.edu	37	14	31614112	31614112	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31614112A>C	ENST00000399332.1	-	16	3020	c.2532T>G	c.(2530-2532)caT>caG	p.H844Q	HECTD1_ENST00000553700.1_Missense_Mutation_p.H844Q	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	15	18	0	20	844					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	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)		CAGCTTTAAAATGGTCATCGT	0.343000													1	1	1	1	1	1	0.999990	16	19	0	21	1	9.895413e-01	7	6	0	21	5
HECTD1	25831	broad.mit.edu	37	14	31637631	31637631	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31637631C>A	ENST00000399332.1	-	10	1983	c.1495G>T	c.(1495-1497)Gat>Tat	p.D499Y	HECTD1_ENST00000553700.1_Missense_Mutation_p.D499Y	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	44	65	0	94	499					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	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)		TTGTTTGTATCTTTCTTTTTC	0.328000													1	1	1	1	1	1	1.000000	48	70	0	100	0	0	0	1	0	100	5
HEATR5A	25938	broad.mit.edu	37	14	31828138	31828138	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:31828138A>C	ENST00000543095.2	-	15	2381	c.2197T>G	c.(2197-2199)Ttc>Gtc	p.F733V	HEATR5A_ENST00000439348.1_Missense_Mutation_p.F727V|HEATR5A_ENST00000439727.1_Missense_Mutation_p.F440V|HEATR5A_ENST00000389961.3_Missense_Mutation_p.F727V|HEATR5A_ENST00000404677.3_Missense_Mutation_p.F733V	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	15	33	0	54	727							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	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)		TCTTGTAGGAAAGGACTTAGT	0.393000													1	1	1	1	0	1	0.999980	16	33	0	57	0	0	0	1	0	57	4
NUBPL	80224	broad.mit.edu	37	14	32315743	32315743	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:32315743T>G	ENST00000281081.7	+	9	805	c.760T>G	c.(760-762)Ttt>Gtt	p.F254V	NUBPL_ENST00000418681.2_3'UTR|NUBPL_ENST00000536705.1_Missense_Mutation_p.F158V	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	9	12	0	15	254					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	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)		AACTCATATTTTTGGTGCTGA	0.383000													0	1	1	1	1	1	0.999471	11	14	0	17	1	9.973441e-01	9	10	0	17	4
ARHGAP5	394	broad.mit.edu	37	14	32560867	32560867	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:32560867T>C	ENST00000345122.3	+	2	1307	c.992T>C	c.(991-993)aTa>aCa	p.I331T	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.I331T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.I331T|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.I331T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	23	37	0	72	331					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	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)		CAGGAACATATAAGAAAAAGG	0.313000													1	1	1	1	1	1	1.000000	24	38	0	74	1	9.917765e-01	9	5	0	74	5
ARHGAP5	394	broad.mit.edu	37	14	32561892	32561892	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:32561892G>A	ENST00000345122.3	+	2	2332	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E673K|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E673K|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E673K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	21	50	0	90	673					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	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)		TTTTATTGGGGAATTTATTGG	0.358000													1	1	1	1	1	1	0.999999	21	54	0	92	1	9.049257e-01	5	8	0	92	5
AKAP6	9472	broad.mit.edu	37	14	33290942	33290942	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:33290942A>G	ENST00000280979.4	+	13	4093	c.3923A>G	c.(3922-3924)aAt>aGt	p.N1308S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	10	28	0	32	1308					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	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)		CTGAAAAACAATCCAAAGGTC	0.408000													1	1	1	1	1	1	0.999111	11	29	0	33	0	0	0	0	0	33	5
AKAP6	9472	broad.mit.edu	37	14	33292587	33292587	+	Silent	SNP	C	C	A	rs149001001		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:33292587C>A	ENST00000280979.4	+	13	5738	c.5568C>A	c.(5566-5568)gtC>gtA	p.V1856V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	28	40	0	63	1856					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	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)		TAAAACGTGTCTCTGAAAATA	0.353000													1	1	1	1	1	1	1.000000	31	44	0	68	0	0	0	0	0	68	5
NPAS3	64067	broad.mit.edu	37	14	34269487	34269487	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:34269487C>T	ENST00000346562.2	+	11	1952	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	NPAS3_ENST00000551492.1_Silent_p.F663F|NPAS3_ENST00000357798.5_Silent_p.F645F|NPAS3_ENST00000548645.1_Silent_p.F628F|NPAS3_ENST00000356141.4_Silent_p.F658F	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	17	56	0	105	658					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	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)		CCATCAATTTCGACAATGACA	0.617000													1	1	1	1	0	1	0.999996	19	61	0	114	0	0	0	0	0	114	4
NPAS3	64067	broad.mit.edu	37	14	34270072	34270072	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:34270072C>T	ENST00000346562.2	+	11	2537	c.2463C>T	c.(2461-2463)ttC>ttT	p.F821F	NPAS3_ENST00000551492.1_Silent_p.F858F|NPAS3_ENST00000357798.5_Silent_p.F840F|NPAS3_ENST00000548645.1_Silent_p.F823F|NPAS3_ENST00000356141.4_Silent_p.F853F	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	11	9	0	19	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	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)		CTGTTAACTTCGTGGACGTTA	0.647000													1	1	1	1	1	1	0.999972	14	11	0	22	0	0	0	0	0	22	5
RALGAPA1	253959	broad.mit.edu	37	14	36096694	36096694	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:36096694G>A	ENST00000258840.6	-	34	5472	c.5082C>T	c.(5080-5082)tgC>tgT	p.C1694C	RALGAPA1_ENST00000389698.3_Silent_p.C1647C|RALGAPA1_ENST00000382366.3_Silent_p.C1660C|RALGAPA1_ENST00000307138.6_Silent_p.C1647C			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	24	43	0	92	1647	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TATCTTCTAAGCATTCATTAG	0.403000													1	1	1	1	0	1	1.000000	26	48	0	76	0	0	0	0	0	76	4
RALGAPA1	253959	broad.mit.edu	37	14	36133883	36133883	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:36133883G>A	ENST00000258840.6	-	27	4306	c.3916C>T	c.(3916-3918)Cct>Tct	p.P1306S	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.P1259S|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1272S|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1259S			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	10	23	0	33	1259					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCAACATCAGGAATGTTGGGA	0.348000													0	1	1	1	1	1	0.998296	10	24	0	37	0	0	0	0	0	37	4
RALGAPA1	253959	broad.mit.edu	37	14	36155765	36155765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:36155765G>A	ENST00000258840.6	-	19	3073	c.2683C>T	c.(2683-2685)Cga>Tga	p.R895*	RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.R848*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.R861*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.R848*			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	11	10	0	14	848					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTACCACTTCGAAGTCGTTCT	0.368000													0	1	1	1	1	1	0.999809	12	12	0	16	0	6.743295e-01	1	3	0	16	4
MIPOL1	145282	broad.mit.edu	37	14	37969124	37969124	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:37969124C>A	ENST00000327441.7	+	13	1509	c.1043C>A	c.(1042-1044)tCt>tAt	p.S348Y	MIPOL1_ENST00000537471.1_Missense_Mutation_p.S348Y|MIPOL1_ENST00000545536.1_Missense_Mutation_p.S317Y|MIPOL1_ENST00000536774.1_Missense_Mutation_p.S167Y|MIPOL1_ENST00000396294.2_Missense_Mutation_p.S348Y|MIPOL1_ENST00000539062.2_Missense_Mutation_p.S317Y|MIPOL1_ENST00000556451.1_Missense_Mutation_p.S317Y	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	12	23	0	27	348										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	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)		TTACACAAATCTTTATCTCAA	0.274000													1	0	1	1	0	1	0.999648	12	23	0	32	0	0	1	0	0	32	3
SSTR1	0	broad.mit.edu	37	14	38678969	38678969	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:38678969C>T	ENST00000267377.2	+	3	992	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	74	172	0	261	125					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			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	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)	ACTGGCCCTTCGGTGCGCTGC	0.597000													1	1	1	1	1	1	1.000000	79	189	0	297	0	3.402132e-01	0	4	0	297	5
CLEC14A	161198	broad.mit.edu	37	14	38724396	38724396	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:38724396C>T	ENST00000342213.2	-	1	1178	c.832G>A	c.(832-834)Gag>Aag	p.E278K		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	46	90	0	160	278	EGF-like.					integral to membrane	sugar binding	p.E278Q(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	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)		TTCCCCAGCTCGAAGCCCGTA	0.672000													1	1	1	1	1	1	1.000000	48	94	0	165	0	9.987890e-01	0	24	0	165	5
RP11-407N17.3	0	broad.mit.edu	37	14	39784901	39784901	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:39784901G>T	ENST00000553728.1	+	20	3189	c.2976G>T	c.(2974-2976)gaG>gaT	p.E992D	CTAGE5_ENST00000341749.3_Missense_Mutation_p.E445D|CTAGE5_ENST00000557038.1_Missense_Mutation_p.E377D|CTAGE5_ENST00000556148.1_Missense_Mutation_p.E382D|CTAGE5_ENST00000553352.1_Missense_Mutation_p.E428D|CTAGE5_ENST00000341502.5_Missense_Mutation_p.E457D|CTAGE5_ENST00000280083.3_Missense_Mutation_p.E457D|CTAGE5_ENST00000396158.2_Missense_Mutation_p.E462D|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.E428D|CTAGE5_ENST00000396165.4_Missense_Mutation_p.E428D|CTAGE5_ENST00000348007.3_Missense_Mutation_p.E457D						20	58	0	63																		TTTCCCATGAGAAAAAAGCAC	0.269000													1	1	1	1	0	1	1.000000	23	64	0	77	1	9.999995e-01	31	48	0	77	4
FSCB	84075	broad.mit.edu	37	14	44975624	44975624	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:44975624C>A	ENST00000340446.4	-	1	858	c.567G>T	c.(565-567)aaG>aaT	p.K189N		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	35	92	0	114	189						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TAGCAAAAATCTTTCCCGACG	0.378000													1	1	1	1	1	1	1.000000	35	98	0	123	0	0	0	0	0	123	5
FSCB	84075	broad.mit.edu	37	14	44975941	44975941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:44975941C>A	ENST00000340446.4	-	1	541	c.250G>T	c.(250-252)Gaa>Taa	p.E84*		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	46	105	0	129	84						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AACTTGACTTCTTTTTTCTCT	0.408000													1	1	1	1	1	1	1.000000	48	110	0	138	0	0	0	0	0	138	5
FAM179B	23116	broad.mit.edu	37	14	45433195	45433195	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45433195G>A	ENST00000361462.2	+	1	1754	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.R524H|FAM179B_ENST00000382233.2_Missense_Mutation_p.R524H			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	31	72	0	104	524							binding	p.R524H(1)		endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GATAGCAAACGCAGGGTACGC	0.463000													1	1	1	1	1	1	1.000000	37	78	0	114	1	5.196065e-01	2	3	0	114	5
FAM179B	23116	broad.mit.edu	37	14	45535797	45535797	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45535797C>T	ENST00000361462.2	+	17	4759	c.4576C>T	c.(4576-4578)Cgt>Tgt	p.R1526C	FAM179B_ENST00000361577.3_Missense_Mutation_p.R1473C|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	16	31	0	53	1473							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AACTGAAGTTCGTGAAGTCAC	0.323000													1	1	1	1	1	1	0.999980	16	33	0	55	1	9.986179e-01	15	13	0	55	5
FANCM	57697	broad.mit.edu	37	14	45624629	45624629	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45624629G>A	ENST00000267430.5	+	8	1448	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	FANCM_ENST00000556036.1_Missense_Mutation_p.E455K|FANCM_ENST00000542564.2_Missense_Mutation_p.E429K	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	15	17	0	27	455	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAATTAGAAGAAGTTGTAAT	0.274000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				1	1	1	1	1	1	0.999996	17	19	0	31	0	0	0	0	0	31	5
FANCM	57697	broad.mit.edu	37	14	45633577	45633577	+	Missense_Mutation	SNP	C	C	T	rs146151355		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:45633577C>T	ENST00000267430.5	+	10	1682	c.1597C>T	c.(1597-1599)Cgt>Tgt	p.R533C	FANCM_ENST00000556036.1_Missense_Mutation_p.R533C|FANCM_ENST00000542564.2_Missense_Mutation_p.R507C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	14	24	0	48	533	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAACAGTTTCGTGACGGTGG	0.363000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				1	1	1	1	1	1	0.999986	16	24	0	53	1	5.288432e-01	2	2	0	53	5
MDGA2	161357	broad.mit.edu	37	14	47530619	47530619	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:47530619T>G	ENST00000426342.1	-	7	1210	c.464A>C	c.(463-465)gAg>gCg	p.E155A	MDGA2_ENST00000439988.2_Missense_Mutation_p.E384A|MDGA2_ENST00000357362.3_Missense_Mutation_p.E155A|MDGA2_ENST00000399232.2_Missense_Mutation_p.E453A	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	28	53	0	128	384	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GACCATCCGCTCAGAACTTCT	0.413000													1	1	1	1	1	1	1.000000	31	57	0	141	0	0	0	0	0	141	5
POLE2	5427	broad.mit.edu	37	14	50118061	50118061	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:50118061G>T	ENST00000539565.2	-	15	1386	c.1168C>A	c.(1168-1170)Cgt>Agt	p.R390S	POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Missense_Mutation_p.R416S|POLE2_ENST00000216367.5_Missense_Mutation_p.R416S	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	6	16	0	28	416					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			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					AAGTCTTCACGGAAGACAGTA	0.308000													1	0	1	1	1	1	0.993175	8	19	0	31	1	9.950577e-01	14	15	0	31	4
KLHDC2	23588	broad.mit.edu	37	14	50244960	50244960	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:50244960G>A	ENST00000298307.5	+	5	1393	c.532G>A	c.(532-534)Gat>Aat	p.D178N	KLHDC2_ENST00000557247.1_Missense_Mutation_p.D178N|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Missense_Mutation_p.D178N	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	21	35	0	55	178						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					TTTTGAATTCGATGAAACATC	0.303000													1	1	1	1	1	1	1.000000	22	43	0	59	1	9.999973e-01	19	33	0	59	5
ATL1	51062	broad.mit.edu	37	14	51057742	51057742	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:51057742A>C	ENST00000441560.2	+	4	847	c.366A>C	c.(364-366)ggA>ggC	p.G122G	ATL1_ENST00000357032.3_Silent_p.G122G|ATL1_ENST00000358385.6_Silent_p.G122G|ATL1_ENST00000354525.4_Silent_p.G122G	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	16	17	0	23	122					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AGACCACAGGAATTCAGATAT	0.353000													1	1	1	1	1	1	0.999991	16	18	0	23	1	6.361746e-01	3	1	0	23	5
NIN	51199	broad.mit.edu	37	14	51210967	51210967	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:51210967G>A	ENST00000245441.5	-	23	5371	c.5181C>T	c.(5179-5181)gtC>gtT	p.V1727V	NIN_ENST00000530997.2_Silent_p.V1727V|NIN_ENST00000453196.1_Silent_p.V1727V|NIN_ENST00000389868.3_Silent_p.V1014V|NIN_ENST00000324330.9_Silent_p.V1727V|NIN_ENST00000382041.3_Silent_p.V1727V|NIN_ENST00000382043.4_Silent_p.V1014V	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	25	55	0	72	1727					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTACCTTATCGACACAGCTAT	0.408000			T	PDGFRB	MPD								1	1	1	1	1	1	1.000000	26	63	0	82	1	8.681541e-01	4	7	0	82	5
TXNDC16	57544	broad.mit.edu	37	14	52949572	52949572	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:52949572G>A	ENST00000281741.4	-	13	1591	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	9	12	0	30	407	Thioredoxin.				cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GCTGTCAGAAGCCATCACTGT	0.368000													1	1	1	1	1	1	0.997517	9	12	0	32	1	7.864734e-01	3	3	0	32	5
STYX	6815	broad.mit.edu	37	14	53224469	53224469	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:53224469C>A	ENST00000354586.4	+	7	642	c.349C>A	c.(349-351)Ctt>Att	p.L117I	STYX_ENST00000556861.1_Intron|STYX_ENST00000442123.2_Missense_Mutation_p.L117I	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	18	18	0	40	117	Tyrosine-protein phosphatase.				protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity	p.L117I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					AGGAAAAGTTCTTGTGCATGG	0.318000													1	1	1	1	1	1	0.999999	19	20	0	43	1	9.939517e-01	6	7	0	43	5
DDHD1	0	broad.mit.edu	37	14	53619307	53619307	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:53619307C>T	ENST00000357758.3	-	1	693	c.510G>A	c.(508-510)tgG>tgA	p.W170*	DDHD1_ENST00000395606.1_Nonsense_Mutation_p.W170*|DDHD1_ENST00000323669.5_Nonsense_Mutation_p.W170*	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	13	39	0	56	170					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CCTTGTAGAACCAGCGTACCT	0.672000													1	1	1	1	1	1	0.999743	13	45	0	64	0	0	0	0	0	64	5
BMP4	652	broad.mit.edu	37	14	54417207	54417207	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:54417207G>A	ENST00000245451.4	-	4	1163	c.770C>T	c.(769-771)tCg>tTg	p.S257L	BMP4_ENST00000559087.1_Missense_Mutation_p.S257L|BMP4_ENST00000417573.1_Missense_Mutation_p.S257L|BMP4_ENST00000558984.1_Missense_Mutation_p.S257L	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	32	66	2	108	257					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			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TTGAGGTAACGATCGGCTAAT	0.632000													1	0	0	1	1	1	1.000000	35	76	2	118	1	1	145	125	2	118	3
BMP4	652	broad.mit.edu	37	14	54418862	54418862	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:54418862T>C	ENST00000245451.4	-	3	472	c.79A>G	c.(79-81)Ata>Gta	p.I27V	BMP4_ENST00000559087.1_Missense_Mutation_p.I27V|BMP4_ENST00000417573.1_Missense_Mutation_p.I27V|BMP4_ENST00000558984.1_Missense_Mutation_p.I27V	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	4	72	0	102	27					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			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GTCTCAGGTATCAAACTAGCA	0.587000													0	0	1	0	0	1	0.892071	4	80	0	111	1	9.790857e-01	11	147	0	111	1
SAMD4A	23034	broad.mit.edu	37	14	55168871	55168871	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55168871C>T	ENST00000251091.5	+	2	593	c.288C>T	c.(286-288)gaC>gaT	p.D96D	SAMD4A_ENST00000392067.3_Silent_p.D96D|SAMD4A_ENST00000554335.1_Silent_p.D96D|SAMD4A_ENST00000357634.3_Silent_p.D95D|SAMD4A_ENST00000555112.1_3'UTR	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	23	45	0	51	96					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GAAACCTCGACGCGAAAGTAG	0.458000													1	1	1	1	1	1	1.000000	24	45	0	56	0	7.571444e-01	0	7	0	56	5
SAMD4A	23034	broad.mit.edu	37	14	55169170	55169170	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55169170C>A	ENST00000251091.5	+	2	892	c.587C>A	c.(586-588)tCt>tAt	p.S196Y	SAMD4A_ENST00000392067.3_Missense_Mutation_p.S196Y|SAMD4A_ENST00000554335.1_Missense_Mutation_p.S196Y|SAMD4A_ENST00000357634.3_Missense_Mutation_p.S195Y|SAMD4A_ENST00000555112.1_3'UTR	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	25	53	0	87	196					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TCTCGGGATTCTGGGATTTGC	0.522000													1	1	1	1	1	1	1.000000	26	54	0	90	1	6.331820e-01	4	2	0	90	5
DLGAP5	9787	broad.mit.edu	37	14	55625460	55625460	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55625460C>T	ENST00000247191.2	-	14	1870		c.e14-1		DLGAP5_ENST00000395425.2_Splice_Site	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	11	20	0	31						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			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAACTTTTTTCTGCAAAGAGA	0.338000													1	1	1	1	1	1	0.999673	12	21	0	31	0	9.998773e-01	1	37	0	31	5
DLGAP5	9787	broad.mit.edu	37	14	55629731	55629731	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:55629731G>T	ENST00000247191.2	-	13	1827	c.1611C>A	c.(1609-1611)gtC>gtA	p.V537V	DLGAP5_ENST00000395425.2_Silent_p.V537V	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	11	17	0	29	537					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			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TATTATTATTGACTTGCCACC	0.294000													1	1	1	1	1	1	0.999855	13	21	0	36	1	9.998551e-01	31	3	0	36	5
KTN1	0	broad.mit.edu	37	14	56078943	56078943	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:56078943G>T	ENST00000416613.1	+	1	249	c.177G>T	c.(175-177)aaG>aaT	p.K59N	KTN1_ENST00000395309.3_Missense_Mutation_p.K59N|KTN1_ENST00000395314.3_Missense_Mutation_p.K59N|KTN1_ENST00000413890.2_Missense_Mutation_p.K59N|KTN1_ENST00000395308.1_Missense_Mutation_p.K59N|KTN1_ENST00000438792.2_Missense_Mutation_p.K59N|KTN1_ENST00000395311.1_Missense_Mutation_p.K59N			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	12	29	0	30	59					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						aagcagaaaagaaaaagaata	0.338000			T	RET	papillary thryoid								1	1	1	1	1	1	0.999566	12	31	0	30	1	9.998445e-01	18	31	0	30	5
KTN1	0	broad.mit.edu	37	14	56103931	56103931	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:56103931T>G	ENST00000416613.1	+	10	1637	c.1565T>G	c.(1564-1566)tTt>tGt	p.F522C	KTN1_ENST00000395309.3_Missense_Mutation_p.F522C|KTN1_ENST00000395314.3_Missense_Mutation_p.F522C|KTN1_ENST00000413890.2_Missense_Mutation_p.F522C|KTN1_ENST00000395308.1_Missense_Mutation_p.F522C|KTN1_ENST00000438792.2_Missense_Mutation_p.F522C|KTN1_ENST00000395311.1_Missense_Mutation_p.F522C			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	25	28	0	36	522					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CAGAGTAAATTTGTGGCCAAA	0.358000			T	RET	papillary thryoid								1	1	1	1	1	1	1.000000	27	29	0	42	1	1	70	106	0	42	5
NAA30	122830	broad.mit.edu	37	14	57876118	57876118	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:57876118A>G	ENST00000556492.1	+	5	1127	c.973A>G	c.(973-975)Aca>Gca	p.T325A	NAA30_ENST00000555166.1_Missense_Mutation_p.T67A|NAA30_ENST00000554703.1_Missense_Mutation_p.N48S	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	13	27	0	36	325	N-acetyltransferase.					cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						AACCGAAATAACAAATAAGTC	0.274000													1	1	1	1	1	1	0.999819	13	27	0	38	1	9.931327e-01	10	12	0	38	5
ACTR10	55860	broad.mit.edu	37	14	58701269	58701269	+	Nonstop_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:58701269G>T	ENST00000254286.4	+	13	1334	c.1254G>T	c.(1252-1254)taG>taT	p.*418Y	ACTR10_ENST00000554402.1_3'UTR	NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	5	31	0	51	0						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CTGAGAAATAGAAGTTTGATT	0.338000													1	0	1	1	1	1	0.942179	5	32	0	54	1	9.955716e-01	2	78	0	54	4
KIAA0586	9786	broad.mit.edu	37	14	58965566	58965566	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:58965566G>A	ENST00000423743.3	+	28	4182	c.3924G>A	c.(3922-3924)gaG>gaA	p.E1308E	KIAA0586_ENST00000261244.5_Silent_p.E1276E|KIAA0586_ENST00000354386.6_Silent_p.E1405E|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Silent_p.E1337E	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	5	33	0	37	1276										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGCAGCAGAGAACATCTTAA	0.403000													1	0	1	1	1	1	0.968965	6	35	0	40	1	9.348878e-01	6	26	0	40	4
DAAM1	23002	broad.mit.edu	37	14	59792754	59792754	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:59792754C>T	ENST00000395125.1	+	9	1156	c.1133C>T	c.(1132-1134)cCg>cTg	p.P378L	DAAM1_ENST00000351081.1_Missense_Mutation_p.P378L|DAAM1_ENST00000360909.3_Missense_Mutation_p.P378L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	7	50	0	55	378	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GAAGCTTACCCGCATTTCATG	0.443000													1	1	1	1	1	1	0.982642	7	58	0	61	0	7.757704e-02	1	3	0	61	5
DAAM1	23002	broad.mit.edu	37	14	59835509	59835509	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:59835509C>T	ENST00000395125.1	+	25	3192	c.3169C>T	c.(3169-3171)Cgc>Tgc	p.R1057C	DAAM1_ENST00000351081.1_Missense_Mutation_p.R1057C|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1047C|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	19	33	0	40	1057	DAD.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	p.R1057C(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GAAACGGAATCGCAAACGTAT	0.368000													1	1	1	1	1	1	1.000000	21	36	0	47	1	9.991858e-01	16	9	0	47	5
PCNXL4	64430	broad.mit.edu	37	14	60574497	60574497	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:60574497T>G	ENST00000406854.1	+	2	695	c.141T>G	c.(139-141)ctT>ctG	p.L47L	PCNXL4_ENST00000391611.2_Silent_p.L47L|PCNXL4_ENST00000404681.2_Silent_p.L47L|PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000406949.1_Intron					pecanex-like 4 (Drosophila)	21	34	0	48																		AAATTATTCTTTTTCTAATGC	0.413000													1	1	1	1	1	1	1.000000	22	37	0	53	1	9.712889e-01	9	4	0	53	5
SIX1	6495	broad.mit.edu	37	14	61115666	61115666	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:61115666G>T	ENST00000247182.6	-	1	514	c.242C>A	c.(241-243)cCc>cAc	p.P81H	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	69	162	0	246	81					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			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CTGCAGTTTGGGGTGGTTGTG	0.627000													1	1	1	1	1	1	1.000000	73	177	0	273	0	8.352872e-01	1	9	0	273	5
MNAT1	4331	broad.mit.edu	37	14	61275130	61275130	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:61275130A>G	ENST00000261245.4	+	4	505	c.404A>G	c.(403-405)aAa>aGa	p.K135R	MNAT1_ENST00000539616.2_Missense_Mutation_p.K135R	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	7	8	0	22	135					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			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GTTATTCAGAAAAATAAATTA	0.303000								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					1	1	1	1	1	1	0.998141	9	8	0	23	1	1	49	36	0	23	5
TRMT5	57570	broad.mit.edu	37	14	61444313	61444313	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:61444313T>C	ENST00000261249.6	-	3	1095	c.711A>G	c.(709-711)gtA>gtG	p.V237V	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	14	23	0	24	237						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TTATTTTATTTACTGCTGAGG	0.313000													1	1	1	1	1	1	0.999986	16	25	0	25	1	9.987531e-01	11	12	0	25	5
SNAPC1	6617	broad.mit.edu	37	14	62249055	62249055	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:62249055A>G	ENST00000216294.4	+	8	1020	c.916A>G	c.(916-918)Aaa>Gaa	p.K306E		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	16	26	0	50	306					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		AGCAACTAGGAAAAAAGAGAA	0.388000													1	1	1	1	1	1	0.999997	18	27	0	52	1	1	43	27	0	52	5
WDR89	112840	broad.mit.edu	37	14	64066363	64066363	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64066363G>A	ENST00000394942.2	-	2	386	c.298C>T	c.(298-300)Cga>Tga	p.R100*	WDR89_ENST00000267522.3_Nonsense_Mutation_p.R100*	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	10	24	0	27	100										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		CTGGCTACTCGAGCATCCCAG	0.383000													1	1	1	1	1	1	0.999186	11	25	0	31	1	9.745675e-01	9	9	0	31	5
WDR89	112840	broad.mit.edu	37	14	64066622	64066622	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64066622A>G	ENST00000394942.2	-	2	127	c.39T>C	c.(37-39)atT>atC	p.I13I	WDR89_ENST00000267522.3_Silent_p.I13I	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	6	64	0	47	13										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		AACATTTAACAATGTGCAGAT	0.343000													1	0	1	1	0	1	0.966926	6	74	0	56	0	3.049632e-01	0	13	0	56	3
SYNE2	23224	broad.mit.edu	37	14	64421617	64421617	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64421617A>C	ENST00000358025.3	+	8	1001	c.771A>C	c.(769-771)agA>agC	p.R257S	SYNE2_ENST00000554584.1_Missense_Mutation_p.R257S|SYNE2_ENST00000356081.3_Missense_Mutation_p.R257S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.R257S|SYNE2_ENST00000341472.5_Missense_Mutation_p.R257S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	8	34	0	43	257	Actin-binding.|CH 2.				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			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAATCCCCAGATTGCTGGAAC	0.353000													1	1	1	1	1	1	0.997930	10	37	0	48	1	5.387755e-02	2	0	0	48	5
SYNE2	23224	broad.mit.edu	37	14	64430710	64430710	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:64430710A>C	ENST00000358025.3	+	10	1212	c.982A>C	c.(982-984)Aag>Cag	p.K328Q	SYNE2_ENST00000554584.1_Missense_Mutation_p.K328Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.K328Q	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	12	14	0	23	328					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			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTACTTTAAAAAGTATAATGT	0.318000													1	1	1	1	1	1	0.999984	15	14	0	24	0	0	1	0	0	24	5
PLEKHG3	26030	broad.mit.edu	37	14	65208583	65208583	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:65208583C>T	ENST00000247226.7	+	14	2488	c.2180C>T	c.(2179-2181)tCg>tTg	p.S727L	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.S783L|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.S316L|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.S288L|PLEKHG3_ENST00000492928.1_Intron	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	48	62	1	140	783				YYENAEHHDAGFSV -> WWPHCTPASCSSPT (in Ref. 2; AAH04298).	regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CGGCCGACTTCGTGGGCCCTG	0.592000													1	0	1	1	1	1	1.000000	49	67	1	143	1	1	28	37	1	143	4
MPP5	64398	broad.mit.edu	37	14	67745898	67745898	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:67745898C>T	ENST00000261681.4	+	3	672	c.11C>T	c.(10-12)tCc>tTc	p.S4F	MPP5_ENST00000555925.1_Intron|MPP5_ENST00000556345.1_Missense_Mutation_p.S4F	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	9	23	0	31	4					tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		ATGACAACATCCCATATGAAT	0.368000													1	1	1	1	0	1	0.996349	9	25	0	32	1	8.495632e-01	6	5	0	32	4
EIF2S1	1965	broad.mit.edu	37	14	67847476	67847476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:67847476C>T	ENST00000256383.4	+	5	1035	c.574C>T	c.(574-576)Cga>Tga	p.R192*	EIF2S1_ENST00000466499.2_Nonsense_Mutation_p.R192*	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	12	28	1	56	192						cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule	protein binding|ribosome binding|translation initiation factor activity			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		TGTCAAAATTCGAGCAGGTAA	0.318000													1	0	1	1	1	1	0.996675	13	30	1	62	0	9.996222e-01	0	75	1	62	4
RAD51B	5890	broad.mit.edu	37	14	68353863	68353863	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:68353863A>C	ENST00000487270.1	+	7	746	c.698A>C	c.(697-699)aAg>aCg	p.K233T	RAD51B_ENST00000488612.1_Missense_Mutation_p.K233T|RAD51B_ENST00000469165.2_3'UTR|RAD51B_ENST00000487861.1_Missense_Mutation_p.K233T|RAD51B_ENST00000390683.3_Missense_Mutation_p.K233T|RAD51B_ENST00000471583.1_Missense_Mutation_p.K233T	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	18	30	0	57	233					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAAAGAAACAAGTTCTTGGCA	0.363000								Direct reversal of damage					1	1	1	1	1	1	0.999998	19	33	0	63	1	9.547777e-01	5	6	0	63	5
DCAF5	8816	broad.mit.edu	37	14	69588977	69588977	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:69588977A>C	ENST00000341516.5	-	2	462	c.315T>G	c.(313-315)ttT>ttG	p.F105L	DCAF5_ENST00000389997.6_Missense_Mutation_p.F105L|DCAF5_ENST00000556847.1_Missense_Mutation_p.F23L|DCAF5_ENST00000554215.1_Missense_Mutation_p.F23L|DCAF5_ENST00000557386.1_Missense_Mutation_p.F105L	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	33	57	0	81	105						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AAGCCAGGCAAAAAATGTTGG	0.488000													1	1	1	1	1	1	1.000000	34	59	0	89	1	9.994095e-01	12	13	0	89	5
EXD2	0	broad.mit.edu	37	14	69695675	69695675	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:69695675G>A	ENST00000409014.1	+	5	758	c.101G>A	c.(100-102)gGc>gAc	p.G34D	EXD2_ENST00000312994.5_Missense_Mutation_p.G159D|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.G34D|EXD2_ENST00000409018.3_Missense_Mutation_p.G159D|EXD2_ENST00000409675.1_Missense_Mutation_p.G34D|EXD2_ENST00000409949.1_Missense_Mutation_p.G34D|EXD2_ENST00000409242.1_Missense_Mutation_p.G34D	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	34	56	0	100	34	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TTGGCAGATGGCACCATTTTG	0.507000													1	1	1	1	1	1	1.000000	38	58	0	107	1	9.739063e-01	5	7	0	107	5
SLC39A9	55334	broad.mit.edu	37	14	69866118	69866118	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:69866118C>T	ENST00000031146.4	+	1	710	c.32C>T	c.(31-33)tCt>tTt	p.S11F	SLC39A9_ENST00000556605.1_Missense_Mutation_p.S11F|SLC39A9_ENST00000557046.1_Missense_Mutation_p.S11F|SLC39A9_ENST00000555245.1_Intron|SLC39A9_ENST00000336643.5_Missense_Mutation_p.S11F			Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	5	15	0	27	11					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AGCCTGCTGTCTCTGGCTATG	0.438000													1	0	1	1	1	1	0.946554	5	15	0	29	1	9.967152e-01	17	26	0	29	4
SLC8A3	6547	broad.mit.edu	37	14	70633726	70633726	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:70633726C>T	ENST00000381269.2	-	2	2167	c.1414G>A	c.(1414-1416)Gac>Aac	p.D472N	SLC8A3_ENST00000534137.1_Missense_Mutation_p.D472N|SLC8A3_ENST00000356921.2_Missense_Mutation_p.D472N|SLC8A3_ENST00000357887.3_Missense_Mutation_p.D472N|SLC8A3_ENST00000528359.1_Missense_Mutation_p.D472N	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	60	124	0	195	472	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCAAAAATGTCGTCATCAATT	0.512000													1	1	1	1	1	1	1.000000	65	137	0	215	0	0	0	0	0	215	5
MAP3K9	4293	broad.mit.edu	37	14	71205013	71205013	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:71205013G>A	ENST00000554752.2	-	8	1792	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	MAP3K9_ENST00000553414.1_Missense_Mutation_p.T340M|MAP3K9_ENST00000555993.2_Missense_Mutation_p.T598M|MAP3K9_ENST00000381250.4_Missense_Mutation_p.T598M|MAP3K9_ENST00000554146.1_Missense_Mutation_p.T335M			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	29	57	0	83	598					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGGCCCCCACGTCCGTCCCTT	0.557000													1	1	1	1	1	1	1.000000	31	60	0	86	1	8.107306e-01	6	2	0	86	5
PCNX	22990	broad.mit.edu	37	14	71478246	71478246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:71478246C>T	ENST00000304743.2	+	10	3204	c.2758C>T	c.(2758-2760)Cga>Tga	p.R920*	PCNX_ENST00000439984.3_Nonsense_Mutation_p.R814*|PCNX_ENST00000238570.5_Nonsense_Mutation_p.R920*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	4	23	0	21	920						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			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)		TACCTCAGTTCGATTTTATCC	0.269000													0	0	1	0	1	1	0.894938	4	26	0	26	0	1.858289e-01	0	5	0	26	2
DPF3	8110	broad.mit.edu	37	14	73138003	73138003	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:73138003G>A	ENST00000541685.1	-	9	927	c.915C>T	c.(913-915)gcC>gcT	p.A305A	DPF3_ENST00000546183.1_Silent_p.A315A|DPF3_ENST00000556509.1_Intron|DPF3_ENST00000557704.1_5'UTR	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	31	43	0	68	134					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TACGTGCTGCGGCCGCTGCCT	0.498000													1	1	1	1	1	1	1.000000	32	46	0	76	0	0	0	0	0	76	5
PNMA1	9240	broad.mit.edu	37	14	74179915	74179915	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74179915T>C	ENST00000316836.3	-	1	1213	c.428A>G	c.(427-429)tAt>tGt	p.Y143C		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	54	72	0	168	143					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		atccaaaatatagtttagcat	0.532000													1	1	1	1	1	1	1.000000	56	78	0	186	1	1	51	55	0	186	5
ZNF410	57862	broad.mit.edu	37	14	74363124	74363124	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74363124A>G	ENST00000555044.1	+	4	469	c.275A>G	c.(274-276)cAg>cGg	p.Q92R	ZNF410_ENST00000540593.1_Intron|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000442160.3_Missense_Mutation_p.Q109R|ZNF410_ENST00000334521.4_Missense_Mutation_p.Q39R|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000324593.6_Missense_Mutation_p.Q92R|ZNF410_ENST00000556797.1_Missense_Mutation_p.Q39R	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	33	58	0	90	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		ACGAGAGCTCAGACTGTACAG	0.463000													1	1	1	1	1	1	1.000000	33	63	0	97	1	1	52	38	0	97	5
ALDH6A1	4329	broad.mit.edu	37	14	74539002	74539002	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74539002A>C	ENST00000553458.1	-	4	350	c.252T>G	c.(250-252)gcT>gcG	p.A84A	CCDC176_ENST00000553773.1_Intron|ALDH6A1_ENST00000350259.4_Silent_p.A84A|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'UTR	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	26	44	0	50	84						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GTTTGCAGGAAGCAATGGCTG	0.483000													1	1	1	1	1	1	1.000000	27	45	0	54	1	9.950682e-01	8	10	0	54	5
VRTN	55237	broad.mit.edu	37	14	74823942	74823942	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:74823942G>A	ENST00000256362.4	+	2	697	c.456G>A	c.(454-456)acG>acA	p.T152T		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	19	55	0	65	152					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCCCCGCCACGCTGGAGGCCA	0.612000													1	1	1	1	1	1	1.000000	23	58	0	68	0	0	0	0	0	68	5
MLH3	27030	broad.mit.edu	37	14	75506691	75506691	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:75506691C>T	ENST00000355774.2	-	5	3708	c.3493G>A	c.(3493-3495)Gct>Act	p.A1165T	MLH3_ENST00000556257.1_Intron|MLH3_ENST00000238662.7_Missense_Mutation_p.A1165T|MLH3_ENST00000556740.1_Missense_Mutation_p.A1165T|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000544985.1_Intron|MLH3_ENST00000380968.2_Missense_Mutation_p.A111T	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	20	24	0	29	1165					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		AAGCTCTCAGCCTGGCCACTG	0.338000								Mismatch excision repair (MMR)					1	1	1	1	1	1	1.000000	23	31	0	36	1	9.979375e-01	7	11	0	36	5
MLH3	27030	broad.mit.edu	37	14	75515305	75515305	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:75515305T>G	ENST00000355774.2	-	2	1269	c.1054A>C	c.(1054-1056)Aaa>Caa	p.K352Q	MLH3_ENST00000556257.1_Missense_Mutation_p.K352Q|MLH3_ENST00000238662.7_Missense_Mutation_p.K352Q|MLH3_ENST00000556740.1_Missense_Mutation_p.K352Q|MLH3_ENST00000380968.2_5'UTR	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	18	19	0	45	352					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACAAATAATTTTTCTTGCTTT	0.363000								Mismatch excision repair (MMR)					1	1	1	1	1	1	0.999998	18	20	0	48	1	6.412365e-01	2	2	0	48	5
ZC2HC1C	79696	broad.mit.edu	37	14	75537671	75537671	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:75537671G>A	ENST00000524913.1	+	2	884	c.395G>A	c.(394-396)cGa>cAa	p.R132Q	ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.R132Q|ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.R132Q|ZC2HC1C_ENST00000526748.1_Intron	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	61	100	0	152	132																	ACAAAGAAACGAGTTGGAGTG	0.512000													1	1	1	1	1	1	1.000000	65	104	0	162	0	3.328487e-01	1	2	0	162	5
KIAA1737	85457	broad.mit.edu	37	14	77580149	77580149	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77580149G>A	ENST00000361786.2	+	4	1005	c.688G>A	c.(688-690)Ggt>Agt	p.G230S	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	23	47	0	64	230										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGCTCTGCAGGGTGTGCCCTC	0.617000													1	1	1	1	1	1	1.000000	23	52	0	74	1	8.858698e-01	5	6	0	74	5
ZDHHC22	283576	broad.mit.edu	37	14	77605688	77605688	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77605688A>G	ENST00000319374.4	-	2	596	c.394T>C	c.(394-396)Tac>Cac	p.Y132H	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	8	5	0	22	132						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGGGAGGTGTAGAGGCAGAAC	0.607000													1	1	1	1	1	1	0.996352	8	6	0	24	0	0	0	0	0	24	5
NGB	58157	broad.mit.edu	37	14	77737225	77737225	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77737225C>T	ENST00000298352.4	-	1	430	c.56G>A	c.(55-57)aGc>aAc	p.S19N		NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	5	9	0	12	19	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CTCCAGCGGGCTGCGGCTCAC	0.746000													0	0	1	1	0	1	0.975154	6	11	0	14	0	0	0	0	0	14	2
POMT2	29954	broad.mit.edu	37	14	77751907	77751907	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77751907G>T	ENST00000261534.4	-	13	1603	c.1401C>A	c.(1399-1401)atC>atA	p.I467I		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	155	310	2	525	467	MIR 3.				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TCAGCACTTTGATCCGGTTTC	0.453000													1	1	0	1	1	1	1.000000	171	345	2	603	1	9.999946e-01	10	28	2	603	4
SAMD15	161394	broad.mit.edu	37	14	77844235	77844235	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77844235T>C	ENST00000216471.4	+	1	760	c.474T>C	c.(472-474)gaT>gaC	p.D158D	SAMD15_ENST00000533095.2_Intron	NM_001010860.1	NP_001010860.1	Q9P1V8	SAM15_HUMAN	sterile alpha motif domain containing 15	80	125	0	202	158										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGAAACAGATCCAGATCCAG	0.488000													1	1	1	1	1	1	1.000000	88	136	0	218	1	5.133783e-01	3	1	0	218	5
AHSA1	10598	broad.mit.edu	37	14	77935522	77935522	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:77935522G>A	ENST00000216479.3	+	9	1107	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	AHSA1_ENST00000555457.1_3'UTR	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	10	191	0	216	316					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GAGCGGACGCGACAGGGCTGG	0.577000													1	0	1	1	0	1	0.998456	11	215	0	245	1	9.999891e-01	26	442	0	245	3
TSHR	7253	broad.mit.edu	37	14	81422098	81422098	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:81422098C>T	ENST00000541158.2	+	2	396	c.74C>T	c.(73-75)tCg>tTg	p.S25L	TSHR_ENST00000298171.2_Missense_Mutation_p.S25L|TSHR_ENST00000554263.1_Missense_Mutation_p.S25L|TSHR_ENST00000342443.6_Missense_Mutation_p.S25L|TSHR_ENST00000554435.1_Missense_Mutation_p.S25L|TSHR_ENST00000557096.1_3'UTR			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	75	119	0	213	25					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	ATGGGGTGTTCGTCTCCACCC	0.607000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						1	1	1	1	1	1	1.000000	80	124	0	233	0	1.557619e-01	1	1	0	233	5
TSHR	7253	broad.mit.edu	37	14	81610603	81610603	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:81610603A>G	ENST00000541158.2	+	11	2523	c.2201A>G	c.(2200-2202)aAc>aGc	p.N734S	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.N734S			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	37	59	0	121	734					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGTCTCCACAACATGGAAGAT	0.473000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						1	1	1	1	1	1	1.000000	37	64	0	124	0	0	0	0	0	124	5
GALC	2581	broad.mit.edu	37	14	88407879	88407879	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:88407879T>C	ENST00000261304.2	-	15	1800	c.1694A>G	c.(1693-1695)gAt>gGt	p.D565G	GALC_ENST00000544807.2_Missense_Mutation_p.D509G|GALC_ENST00000393569.2_Missense_Mutation_p.D539G|GALC_ENST00000393568.4_Missense_Mutation_p.D542G	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	48	67	0	82	565					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TATGTATACATCACACTTTAT	0.373000													1	1	1	1	1	1	1.000000	51	71	0	87	1	9.949634e-01	7	8	0	87	5
KCNK10	54207	broad.mit.edu	37	14	88789139	88789139	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:88789139T>G	ENST00000319231.5	-	1	454	c.4A>C	c.(4-6)Aaa>Caa	p.K2Q	KCNK10_ENST00000340700.5_Intron	NM_138317.2	NP_612190.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	15	52	0	71	0					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						attggaaatttcattgcttcg	0.473000													1	1	1	1	1	1	0.999934	15	55	0	74	0	0	0	0	0	74	5
SPATA7	55812	broad.mit.edu	37	14	88892857	88892857	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:88892857G>A	ENST00000556553.1	+	6	1117	c.558G>A	c.(556-558)tcG>tcA	p.S186S	SPATA7_ENST00000045347.7_Silent_p.S218S|SPATA7_ENST00000393545.4_Silent_p.S218S|SPATA7_ENST00000356583.5_Silent_p.S186S			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	27	51	0	64	218					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TAGTCATTTCGAAAGCACCCA	0.468000													1	1	1	1	1	1	1.000000	29	55	0	67	1	9.606841e-01	2	10	0	67	5
EML5	161436	broad.mit.edu	37	14	89131693	89131693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:89131693G>A	ENST00000554922.1	-	22	3513	c.3265C>T	c.(3265-3267)Cga>Tga	p.R1089*	EML5_ENST00000352093.5_Nonsense_Mutation_p.R1051*|EML5_ENST00000380664.5_Nonsense_Mutation_p.R1089*	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	8	8	0	11	1089						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGTGAAAATCGAATATCTGAA	0.343000													0	1	1	1	1	1	0.995588	8	8	0	11	0	0	0	0	0	11	4
EML5	161436	broad.mit.edu	37	14	89202808	89202808	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:89202808A>T	ENST00000554922.1	-	7	1197	c.949T>A	c.(949-951)Ttt>Att	p.F317I	EML5_ENST00000352093.5_Missense_Mutation_p.F317I|EML5_ENST00000380664.5_Missense_Mutation_p.F317I	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	52	89	0	123	317				F -> S (in Ref. 2; AAH32685).		cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATAATTAGAAAAGGTTTATTT	0.428000													1	1	1	1	1	1	1.000000	55	91	0	124	0	0	0	0	0	124	5
TDP1	55775	broad.mit.edu	37	14	90429920	90429920	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:90429920T>G	ENST00000335725.4	+	3	712	c.462T>G	c.(460-462)atT>atG	p.I154M	TDP1_ENST00000393452.3_Missense_Mutation_p.I154M|TDP1_ENST00000393454.2_Missense_Mutation_p.I154M|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555880.1_Missense_Mutation_p.I154M	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	9	63	0	52	154					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			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GCCAGGACATTTGGGACATGC	0.522000								Repair of DNA-protein crosslinks					1	1	1	1	1	1	0.997499	10	70	0	55	1	9.707728e-01	6	40	0	55	5
NRDE2	55051	broad.mit.edu	37	14	90752753	90752753	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:90752753C>T	ENST00000354366.3	-	12	3474	c.3242G>A	c.(3241-3243)cGc>cAc	p.R1081H	NRDE2_ENST00000357904.3_Missense_Mutation_p.R850H	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing	3	58	0	46																		ACTGTCGCTGCGCATGGCATT	0.493000													1	0	0	1	0	1	0.939984	5	63	0	49	0	5.186530e-01	1	20	0	49	2
RPS6KA5	9252	broad.mit.edu	37	14	91338638	91338638	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:91338638A>G	ENST00000261991.3	-	17	2362	c.2189T>C	c.(2188-2190)tTt>tCt	p.F730S	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.F651S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	17	22	0	36	730					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			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		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)		CTGAAGGCAAAACCCCTCTCT	0.458000													1	1	1	1	1	1	0.999995	17	23	0	38	0	5.681063e-01	1	3	0	38	5
CATSPERB	79820	broad.mit.edu	37	14	92159544	92159544	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92159544A>C	ENST00000256343.3	-	9	913	c.757T>G	c.(757-759)Ttt>Gtt	p.F253V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	20	53	0	62	253					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATAACTAAAAAATGATTCGTT	0.338000													1	1	1	1	1	1	0.999999	21	57	0	72	0	7.808642e-02	0	2	0	72	5
FBLN5	10516	broad.mit.edu	37	14	92353567	92353567	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:92353567C>A	ENST00000267620.10	-	8	1001	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	FBLN5_ENST00000556154.1_Nonsense_Mutation_p.E242*|FBLN5_ENST00000342058.4_Nonsense_Mutation_p.E237*			Q9UBX5	FBLN5_HUMAN	fibulin 5	70	117	0	213	237	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TCCTCAAGTTCATATCCTGGG	0.552000													1	1	1	1	1	1	1.000000	75	122	0	223	0	9.999995e-01	0	41	0	223	5
UBR7	55148	broad.mit.edu	37	14	93685599	93685599	+	Silent	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:93685599T>A	ENST00000013070.6	+	8	1088	c.852T>A	c.(850-852)tcT>tcA	p.S284S	UBR7_ENST00000416753.1_Silent_p.S208S	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	4	31	0	29	284							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AATCAAAATCTGGCTGCAAAC	0.383000													0	0	1	0	0	1	0.893960	4	34	0	30	1	9.319831e-01	7	39	0	30	1
UNC79	57578	broad.mit.edu	37	14	94007016	94007016	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:94007016G>T	ENST00000553484.1	+	13	1517	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	UNC79_ENST00000256339.4_Nonsense_Mutation_p.E278*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.E455*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.E455*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	21	43	0	76	455						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTGTTGAAAGAAGCCGAGTT	0.498000													1	1	1	1	1	1	1.000000	23	52	0	87	0	0	0	0	0	87	5
UNC79	57578	broad.mit.edu	37	14	94121601	94121601	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:94121601T>G	ENST00000553484.1	+	40	6641	c.6487T>G	c.(6487-6489)Tta>Gta	p.L2163V	UNC79_ENST00000256339.4_Missense_Mutation_p.L1964V|UNC79_ENST00000393151.2_Missense_Mutation_p.L2141V|UNC79_ENST00000555664.1_Missense_Mutation_p.L2102V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	34	41	0	50	2141						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CAAAAAGAATTTACCAGCAGG	0.418000													1	1	1	1	1	1	1.000000	35	44	0	52	0	0	0	0	0	52	5
DDX24	57062	broad.mit.edu	37	14	94545825	94545825	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:94545825C>A	ENST00000330836.5	-	2	395	c.264G>T	c.(262-264)gaG>gaT	p.E88D	DDX24_ENST00000555054.1_Missense_Mutation_p.E45D|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	7	94	0	98	88	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		ACTTTCCCTCCTCCTCCTCCT	0.438000													1	1	1	1	0	1	0.981812	7	98	0	101	1	9.327429e-01	3	66	0	101	4
DICER1	23405	broad.mit.edu	37	14	95560464	95560464	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:95560464C>T	ENST00000526495.1	-	26	5416	c.5125G>A	c.(5125-5127)Gat>Aat	p.D1709N	DICER1_ENST00000343455.3_Missense_Mutation_p.D1709N|DICER1_ENST00000541352.1_Missense_Mutation_p.D1709N|DICER1_ENST00000393063.1_Missense_Mutation_p.D1709N|DICER1_ENST00000556045.1_Missense_Mutation_p.D607N|DICER1_ENST00000527414.1_Missense_Mutation_p.D1709N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	31	47	0	79	1709	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	p.D1709N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAATCGCATCTCCCAGGAAT	0.527000			Mis F, N		sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				1	1	1	1	1	1	1.000000	34	53	0	90	1	9.999641e-01	19	12	0	90	5
SYNE3	161176	broad.mit.edu	37	14	95884214	95884214	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:95884214G>A	ENST00000334258.5	-	17	2891	c.2877C>T	c.(2875-2877)ttC>ttT	p.F959F	SYNE3_ENST00000557275.1_Silent_p.F954F|SYNE3_ENST00000554873.1_Silent_p.F716F	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3	58	97	0	154											breast(1)|endometrium(2)|lung(25)	28						AGGAGCGGGCGAAGTTGTTGG	0.612000													1	1	1	1	1	1	1.000000	68	115	0	184	0	0	0	0	0	184	5
TCL1B	9623	broad.mit.edu	37	14	96157608	96157608	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:96157608G>T	ENST00000340722.7	+	3	388	c.337G>T	c.(337-339)Gac>Tac	p.D113Y	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	18	24	0	24	113										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCTGCAGATTGACTCTATGGA	0.587000													1	1	1	1	0	1	0.999999	19	24	0	27	0	0	0	0	0	27	4
BDKRB1	0	broad.mit.edu	37	14	96730613	96730613	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:96730613G>A	ENST00000216629.6	+	3	1200	c.594G>A	c.(592-594)tgG>tgA	p.W198*	BDKRB1_ENST00000553356.1_Nonsense_Mutation_p.W198*|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	30	43	0	97	198					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		ATGAGGCCTGGCACTTTGCAA	0.567000													1	1	1	1	1	1	1.000000	36	49	0	105	0	6.990174e-01	0	5	0	105	5
ATG2B	55102	broad.mit.edu	37	14	96798990	96798990	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:96798990C>A	ENST00000359933.4	-	9	2103	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	18	19	0	47	404										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AATACTTCTTCTTCTAGAGAG	0.378000													1	1	1	1	1	1	1.000000	20	19	0	47	0	0	0	0	0	47	5
BCL11B	64919	broad.mit.edu	37	14	99697799	99697799	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:99697799C>T	ENST00000357195.3	-	3	532	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	BCL11B_ENST00000345514.2_Intron|BCL11B_ENST00000443726.2_Intron	NM_138576.2	NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	5	20	0	18	175						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGAGAGCGCCCAGGGCACGC	0.706000			T	TLX3	T-ALL								1	0	1	1	0	1	0.944603	5	20	0	21	0	0	0	0	0	21	3
EML1	2009	broad.mit.edu	37	14	100376649	100376649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:100376649C>A	ENST00000262233.6	+	12	1449	c.1310C>A	c.(1309-1311)tCa>tAa	p.S437*	EML1_ENST00000327921.9_Nonsense_Mutation_p.S425*|EML1_ENST00000334192.4_Nonsense_Mutation_p.S456*	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	8	32	0	50	437						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ACTGGAGATTCAAGTGGCAAC	0.343000													1	1	1	1	1	1	0.997909	10	38	0	58	0	4.695129e-01	0	7	0	58	5
WARS	7453	broad.mit.edu	37	14	100826997	100826997	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:100826997G>A	ENST00000355338.2	-	4	934	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	WARS_ENST00000556645.1_Missense_Mutation_p.R65W|WARS_ENST00000557135.1_Missense_Mutation_p.R106W|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000358655.4_Missense_Mutation_p.R65W|WARS_ENST00000344102.5_Missense_Mutation_p.R65W|WARS_ENST00000392882.2_Missense_Mutation_p.R106W	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	31	36	0	44	106					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTTCCAAACCGAACTGGAAAA	0.418000													0	0	1	0	0	1	1.000000	32	37	0	45	1	1	335	289	0	45	1
BEGAIN	57596	broad.mit.edu	37	14	101005179	101005179	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:101005179G>T	ENST00000556751.1	-	5	4121	c.717C>A	c.(715-717)ttC>ttA	p.F239L	BEGAIN_ENST00000443071.2_Missense_Mutation_p.F303L|BEGAIN_ENST00000355173.2_Missense_Mutation_p.F303L			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	5	15	0	15	303						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				ACGTGGCGCTGAAGCTGGAGT	0.687000													1	0	1	1	1	1	0.946554	5	15	0	17	0	1.936759e-01	0	3	0	17	4
DYNC1H1	1778	broad.mit.edu	37	14	102502923	102502923	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:102502923G>A	ENST00000360184.4	+	57	11016	c.10852G>A	c.(10852-10854)Gcc>Acc	p.A3618T	DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	8	119	0	78	3618	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			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCTGGATGACGCCTTCAGAAA	0.468000													1	1	1	1	0	1	0.990092	8	123	0	87	1	9.933840e-01	9	135	0	87	4
MOK	5891	broad.mit.edu	37	14	102729915	102729915	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:102729915A>C	ENST00000361847.2	-	4	482	c.251T>G	c.(250-252)cTt>cGt	p.L84R	MOK_ENST00000522874.1_Missense_Mutation_p.L84R|MOK_ENST00000524214.1_Missense_Mutation_p.L54R|MOK_ENST00000193029.6_5'UTR	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	8	18	0	16	84	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding										CATGTCCATAAGTTCACATAT	0.303000													1	1	1	1	1	1	0.996543	9	22	0	18	1	9.865210e-01	12	11	0	18	5
CDC42BPB	9578	broad.mit.edu	37	14	103406031	103406031	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:103406031T>G	ENST00000361246.2	-	34	5031	c.4743A>C	c.(4741-4743)aaA>aaC	p.K1581N		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	16	166	0	181	1581					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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGGATATCATTTTGGATCTCA	0.557000													1	1	1	1	0	1	0.999972	17	178	0	193	1	9.995470e-01	9	127	0	193	4
EIF5	1983	broad.mit.edu	37	14	103803151	103803151	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:103803151C>A	ENST00000216554.3	+	5	968	c.292C>A	c.(292-294)Ctc>Atc	p.L98I	EIF5_ENST00000560200.1_3'UTR|EIF5_ENST00000392715.2_Missense_Mutation_p.L98I|EIF5_ENST00000558506.1_Missense_Mutation_p.L98I	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	19	40	0	58	98					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AAAATTTGTTCTCTGTCCTGA	0.393000													1	1	1	1	1	1	0.999999	20	42	0	67	1	1	43	67	0	67	5
KLC1	3831	broad.mit.edu	37	14	104143808	104143808	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:104143808A>C	ENST00000389744.4	+	12	1705	c.1436A>C	c.(1435-1437)aAa>aCa	p.K479T	KLC1_ENST00000557450.1_Missense_Mutation_p.K479T|KLC1_ENST00000334553.6_Missense_Mutation_p.K479T|KLC1_ENST00000445352.4_Missense_Mutation_p.K477T|KLC1_ENST00000554280.1_Missense_Mutation_p.K479T|KLC1_ENST00000555836.1_Missense_Mutation_p.K479T|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.K651T|KLC1_ENST00000553286.1_Missense_Mutation_p.K479T|KLC1_ENST00000347839.6_Missense_Mutation_p.K479T|KLC1_ENST00000557575.1_Missense_Mutation_p.K479T|KLC1_ENST00000246489.7_Missense_Mutation_p.K479T|KLC1_ENST00000348520.6_Missense_Mutation_p.K479T|KLC1_ENST00000380038.3_Missense_Mutation_p.K479T|KLC1_ENST00000452929.2_Missense_Mutation_p.K479T			Q07866	KLC1_HUMAN	kinesin light chain 1	45	52	0	75	479					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				CGTCAAGGCAAATTTGAAGCT	0.418000													1	1	1	1	0	1	1.000000	49	53	0	87	1	1	69	111	0	87	4
AHNAK2	113146	broad.mit.edu	37	14	105406167	105406167	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105406167T>C	ENST00000333244.5	-	7	15740	c.15621A>G	c.(15619-15621)agA>agG	p.R5207R	AHNAK2_ENST00000557457.1_Silent_p.R205R	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	140	150	0	424	5207						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		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)			CAGCCCCGCCTCTGTCCCTGA	0.552000													1	1	1	1	1	1	1.000000	177	263	0	443	1	9.999988e-01	19	15	0	443	5
AHNAK2	113146	broad.mit.edu	37	14	105411897	105411897	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105411897G>A	ENST00000333244.5	-	7	10010	c.9891C>T	c.(9889-9891)gcC>gcT	p.A3297A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	133	270	2	364	3297						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		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)			CATCCTTGTCGGCCAGGGACA	0.622000													1	0	0	1	1	1	1.000000	143	294	3	388	0	1.076067e-01	0	2	3	388	3
AHNAK2	113146	broad.mit.edu	37	14	105411964	105411964	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105411964T>C	ENST00000333244.5	-	7	9943	c.9824A>G	c.(9823-9825)gAg>gGg	p.E3275G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	98	176	0	268	3275						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		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)			GACGTCCACCTCCATGCTGGG	0.627000													1	1	1	1	1	1	1.000000	100	190	0	276	1	9.048427e-01	6	4	0	276	5
AHNAK2	113146	broad.mit.edu	37	14	105413705	105413705	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105413705C>T	ENST00000333244.5	-	7	8202	c.8083G>A	c.(8083-8085)Gac>Aac	p.D2695N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	12	281	0	224	2695						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		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)			ATGCTGATGTCAGTGGTCTTA	0.627000													1	0	1	1	0	1	0.999562	13	291	0	234	0	6.391823e-03	0	3	0	234	3
GPR132	29933	broad.mit.edu	37	14	105517481	105517481	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105517481C>A	ENST00000329797.3	-	4	1904	c.993G>T	c.(991-993)atG>atT	p.M331I	GPR132_ENST00000392585.2_Missense_Mutation_p.M322I|GPR132_ENST00000539291.2_Missense_Mutation_p.M331I	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	23	37	0	62	331					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CGTCTGTCTTCATGGACCACT	0.612000													1	1	1	1	1	1	1.000000	25	42	0	71	0	7.184685e-01	1	5	0	71	5
PACS2	23241	broad.mit.edu	37	14	105857575	105857575	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105857575C>T	ENST00000447393.1	+	20	2250	c.2075C>T	c.(2074-2076)tCg>tTg	p.S692L	PACS2_ENST00000325438.8_Missense_Mutation_p.S688L|PACS2_ENST00000430725.2_Missense_Mutation_p.S613L|PACS2_ENST00000458164.2_Missense_Mutation_p.S703L|PACS2_ENST00000547217.1_Missense_Mutation_p.S658L|PACS2_ENST00000551743.1_Missense_Mutation_p.S202L	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	21	44	1	62	688					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		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)		GAGCCATCCTCGGCCACATCA	0.602000													1	0	1	1	1	1	0.999932	23	47	1	70	1	9.999926e-01	33	60	1	70	4
PACS2	23241	broad.mit.edu	37	14	105860899	105860899	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr14:105860899G>A	ENST00000447393.1	+	24	2747	c.2572G>A	c.(2572-2574)Gac>Aac	p.D858N	PACS2_ENST00000325438.8_Missense_Mutation_p.D854N|PACS2_ENST00000430725.2_Missense_Mutation_p.D779N|PACS2_ENST00000458164.2_Missense_Mutation_p.D869N|PACS2_ENST00000551801.1_Missense_Mutation_p.D55N|PACS2_ENST00000547217.1_Missense_Mutation_p.D824N|PACS2_ENST00000551743.1_Missense_Mutation_p.D368N	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	25	59	0	88	854					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		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)		AGTCCTCATCGACGGCGTGGA	0.677000													1	1	1	1	1	1	1.000000	27	66	0	96	1	1	58	55	0	96	5
OR4N4	283694	broad.mit.edu	37	15	22382507	22382507	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22382507T>G	ENST00000328795.4	+	1	126	c.35T>G	c.(34-36)tTt>tGt	p.F12C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	20	252	0	322	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		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)		GTGACAGAATTTATCCTCCTT	0.348000													1	1	1	1	0	1	1.000000	23	292	0	297	0	0	0	0	0	297	4
OR4N4	283694	broad.mit.edu	37	15	22383340	22383340	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22383340C>T	ENST00000328795.4	+	1	959	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	15	123	0	178	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		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)		TTATACCCTTCGCAACCAGGA	0.413000													1	1	1	1	0	1	0.999901	15	132	0	185	0	0	0	0	0	185	4
CYFIP1	23191	broad.mit.edu	37	15	22933766	22933766	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:22933766G>A	ENST00000313077.7	+	8	810	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	CYFIP1_ENST00000560848.1_Missense_Mutation_p.E229K	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	53	93	0	183	229					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			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		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)		GCAGCAGCTCGAAGTGATTTC	0.532000													1	1	1	1	1	1	1.000000	57	102	0	197	1	1	41	36	0	197	5
MAGEL2	54551	broad.mit.edu	37	15	23889613	23889613	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:23889613G>T	ENST00000532292.1	-	1	1562	c.1468C>A	c.(1468-1470)Ctg>Atg	p.L490M		NM_019066.4	NP_061939.3			MAGE-like 2	12	25	0	36											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		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)		TGGTAGCCCAGCTTGTTGATG	0.428000													1	1	1	1	1	1	0.999615	12	26	0	40	0	0	0	1	0	40	5
NPAP1	23742	broad.mit.edu	37	15	24922007	24922007	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:24922007G>A	ENST00000329468.2	+	1	1467	c.993G>A	c.(991-993)tcG>tcA	p.S331S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1	27	51	0	90																		GGAAAATGTCGATTCCATTGC	0.587000													1	1	1	1	1	1	1.000000	28	55	0	97	0	0	0	0	0	97	5
UBE3A	7337	broad.mit.edu	37	15	25615832	25615832	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:25615832G>A	ENST00000232165.3	-	6	2145	c.1489C>T	c.(1489-1491)Cgc>Tgc	p.R497C	SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.R500C|UBE3A_ENST00000428984.2_Missense_Mutation_p.R477C|UBE3A_ENST00000566215.1_Missense_Mutation_p.R477C|UBE3A_ENST00000438097.1_Missense_Mutation_p.R477C	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	15	33	0	43	500	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	p.R500C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		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)		CTGTACATGCGAATTCTATTG	0.343000													1	1	1	1	1	1	0.999979	16	35	0	45	0	2.468839e-01	0	3	0	45	5
ATP10A	57194	broad.mit.edu	37	15	25925385	25925385	+	Missense_Mutation	SNP	G	G	A	rs146387652		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:25925385G>A	ENST00000356865.6	-	20	3860	c.3749C>T	c.(3748-3750)gCg>gTg	p.A1250V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	51	83	0	152	1250					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.A1250V(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		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)		GGCACAAGACGCATTGTAAAT	0.493000													1	1	1	1	1	1	1.000000	54	87	0	163	1	9.999957e-01	7	28	0	163	5
GABRB3	2562	broad.mit.edu	37	15	26793009	26793009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:26793009C>T	ENST00000541819.2	-	10	1623	c.1521G>A	c.(1519-1521)tgG>tgA	p.W507*	GABRB3_ENST00000311550.5_Nonsense_Mutation_p.W451*|GABRB3_ENST00000299267.4_Nonsense_Mutation_p.W451*|GABRB3_ENST00000545868.1_Nonsense_Mutation_p.W366*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.W380*			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	7	68	0	73	451					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		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)	CGATCCTGGACCATCTGTCTA	0.408000													1	1	1	1	0	1	0.982170	7	76	0	80	0	0	0	0	0	80	4
HERC2	8924	broad.mit.edu	37	15	28414768	28414768	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:28414768C>A	ENST00000261609.7	-	66	10199	c.10091G>T	c.(10090-10092)aGt>aTt	p.S3364I		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	8	80	0	91	3364					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			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		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)		TATTTTATTACTGGCAGCAGA	0.373000													1	1	1	1	0	1	0.994937	9	90	0	102	0	4.360196e-01	1	14	0	102	4
GOLGA8M	653720	broad.mit.edu	37	15	28947824	28947824	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:28947824C>T	ENST00000563027.1	-	16	1435	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H						golgin A8 family, member M	24	31	0	62																		TTGAATGAAGCGAAGTTCTTG	0.567000													1	0	0	1	0	1	1.000000	25	33	0	58	0	0	0	0	0	58	2
APBA2	321	broad.mit.edu	37	15	29368262	29368262	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:29368262A>C	ENST00000558402.1	+	7	1636	c.1037A>C	c.(1036-1038)aAg>aCg	p.K346T	APBA2_ENST00000411764.1_Missense_Mutation_p.K346T|APBA2_ENST00000558330.1_Missense_Mutation_p.K346T|APBA2_ENST00000558259.1_Missense_Mutation_p.K346T|APBA2_ENST00000561069.1_Missense_Mutation_p.K346T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	5	67	0	102	346					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		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)		TAACAGACAAAGAAGGTGGCA	0.368000													0	0	1	0	0	1	0.939576	5	76	0	117	1	7.724909e-01	2	41	0	117	1
APBA2	321	broad.mit.edu	37	15	29406121	29406121	+	Missense_Mutation	SNP	G	G	A	rs144849809		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:29406121G>A	ENST00000558402.1	+	15	2679	c.2080G>A	c.(2080-2082)Gtc>Atc	p.V694I	APBA2_ENST00000411764.1_Missense_Mutation_p.V682I|APBA2_ENST00000558330.1_Missense_Mutation_p.V682I|APBA2_ENST00000558259.1_Missense_Mutation_p.V694I|APBA2_ENST00000561069.1_Missense_Mutation_p.V694I			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	20	47	0	101	694	PDZ 2.				nervous system development|protein transport		protein binding	p.V694I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		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)		GCGAGGGGGCGTCCGTGTGGG	0.627000													1	1	1	1	1	1	1.000000	22	50	0	110	1	9.999995e-01	30	38	0	110	5
TJP1	7082	broad.mit.edu	37	15	30034962	30034962	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:30034962C>A	ENST00000346128.6	-	9	1508	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I	TJP1_ENST00000356107.6_Missense_Mutation_p.R345I|TJP1_ENST00000545208.2_Missense_Mutation_p.R345I|TJP1_ENST00000400011.2_Missense_Mutation_p.R349I	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	14	33	0	44	345					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		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)		TTTAGAAATTCTCTCTTCATC	0.373000													1	1	1	1	1	1	0.999951	15	37	0	48	1	9.432772e-01	4	11	0	48	5
FAN1	22909	broad.mit.edu	37	15	31197613	31197613	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:31197613G>T	ENST00000362065.4	+	2	1038	c.747G>T	c.(745-747)gaG>gaT	p.E249D	FAN1_ENST00000561594.1_Missense_Mutation_p.E249D|FAN1_ENST00000561607.1_Missense_Mutation_p.E249D|FAN1_ENST00000565466.1_Missense_Mutation_p.E249D	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	12	45	0	60	249					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			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GGGAATGTGAGAAATCAGCCC	0.403000								Direct reversal of damage					1	1	1	1	1	1	0.999455	12	47	0	65	0	7.714150e-01	1	12	0	65	5
FAN1	22909	broad.mit.edu	37	15	31210381	31210381	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:31210381C>T	ENST00000362065.4	+	6	2117	c.1826C>T	c.(1825-1827)aCg>aTg	p.T609M		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	21	91	0	109	609					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			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GCAGCAGCCACGCACATGCTG	0.468000								Direct reversal of damage					1	1	1	1	1	1	0.999999	21	94	0	115	0	3.158134e-01	0	6	0	115	5
MTMR10	54893	broad.mit.edu	37	15	31251300	31251300	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:31251300T>C	ENST00000435680.1	-	8	880	c.783A>G	c.(781-783)ccA>ccG	p.P261P	MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000563714.1_Silent_p.P179P|MTMR10_ENST00000314404.8_Silent_p.P13P	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	4	8	0	15	261	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		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)		CTAAAGAACTTGGCACTACAA	0.393000													0	0	1	1	0	1	0.903106	4	8	0	15	0	5.609244e-01	0	5	0	15	2
ARHGAP11A	9824	broad.mit.edu	37	15	32917394	32917394	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:32917394G>A	ENST00000361627.3	+	5	1387	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.R222Q|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.R33Q|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.R33Q|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.R222Q	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	28	32	0	53	222	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		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)		AAGAAGCTACGATTACAGGCT	0.358000													1	1	1	1	1	1	1.000000	29	33	0	55	1	9.996952e-01	11	9	0	55	5
ARHGAP11A	9824	broad.mit.edu	37	15	32929102	32929102	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:32929102G>T	ENST00000361627.3	+	12	2850	c.2128G>T	c.(2128-2130)Gat>Tat	p.D710Y	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.D521Y|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.D521Y	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	17	26	0	27	710					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.D710H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		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)		TATGCCAAAAGATTATTTAAG	0.284000													1	1	1	1	1	1	0.999999	19	27	0	31	1	9.999424e-01	11	20	0	31	5
ARHGAP11A	9824	broad.mit.edu	37	15	32929515	32929515	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:32929515T>G	ENST00000361627.3	+	12	3263	c.2541T>G	c.(2539-2541)tcT>tcG	p.S847S	ARHGAP11A_ENST00000543522.1_Silent_p.S658S|ARHGAP11A_ENST00000565905.1_Silent_p.S658S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	40	54	0	99	847					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		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)		GAATTAATTCTTTGTTGGAGT	0.408000													1	1	1	1	1	1	1.000000	41	57	0	106	1	1	29	25	0	106	5
FMN1	342184	broad.mit.edu	37	15	33091084	33091084	+	Missense_Mutation	SNP	C	C	T	rs76835557	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:33091084C>T	ENST00000334528.9	-	15	3381	c.3382G>A	c.(3382-3384)Gtg>Atg	p.V1128M	FMN1_ENST00000559047.1_Missense_Mutation_p.V1351M|FMN1_ENST00000561249.1_Missense_Mutation_p.V1253M	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	7	24	0	31	1351	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		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)		ACCATAAACACGTAGCTGGGT	0.398000													1	1	1	1	1	1	0.992492	8	25	0	32	0	7.142857e-02	0	2	0	32	5
FMN1	342184	broad.mit.edu	37	15	33261472	33261472	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:33261472C>A	ENST00000334528.9	-	4	1760	c.1761G>T	c.(1759-1761)gaG>gaT	p.E587D	FMN1_ENST00000559047.1_Missense_Mutation_p.E810D|FMN1_ENST00000561249.1_Missense_Mutation_p.E712D	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	24	343	0	400	810	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		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)		TGAGGAAGGTCTCTCTGTCTG	0.483000													1	1	1	1	0	1	1.000000	26	384	0	454	0	3.549999e-01	1	18	0	454	4
RYR3	6263	broad.mit.edu	37	15	33954392	33954392	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:33954392T>G	ENST00000389232.4	+	35	4731	c.4661T>G	c.(4660-4662)cTg>cGg	p.L1554R	RYR3_ENST00000415757.3_Missense_Mutation_p.L1554R	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	6	11	0	17	1554	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		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)		CAGGAGGACCTGATGCGGTTC	0.612000													1	1	1	1	1	1	0.987544	7	13	0	18	0	0	0	0	0	18	5
RYR3	6263	broad.mit.edu	37	15	34040342	34040342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34040342C>T	ENST00000389232.4	+	54	8087	c.8017C>T	c.(8017-8019)Cga>Tga	p.R2673*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R2673*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	24	61	0	109	2673	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		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)		CTGGCCTGCGCGAGAGTCCCT	0.527000													1	1	1	1	1	1	1.000000	29	73	0	115	0	0	0	0	0	115	5
RYR3	6263	broad.mit.edu	37	15	34049726	34049726	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34049726C>A	ENST00000389232.4	+	60	8704	c.8634C>A	c.(8632-8634)ttC>ttA	p.F2878L	RYR3_ENST00000415757.3_Missense_Mutation_p.F2878L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	7	13	0	21	2878					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		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)		GCCTCTACTTCTTGTCATCCC	0.498000													1	0	1	1	1	1	0.987210	7	14	0	22	0	0	0	0	0	22	4
RYR3	6263	broad.mit.edu	37	15	34080594	34080594	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34080594C>T	ENST00000389232.4	+	67	9835	c.9765C>T	c.(9763-9765)ttC>ttT	p.F3255F	RYR3_ENST00000415757.3_Silent_p.F3255F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	32	74	0	96	3255					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		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)		TGGACGAGTTCGCGGTCCTCT	0.567000													1	1	1	1	1	1	1.000000	34	79	0	98	0	0	0	0	0	98	5
RYR3	6263	broad.mit.edu	37	15	34115220	34115220	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34115220G>T	ENST00000389232.4	+	81	11089	c.11019G>T	c.(11017-11019)gaG>gaT	p.E3673D	RYR3_ENST00000415757.3_Missense_Mutation_p.E3668D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	15	49	0	57	3673					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		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)		ACCTAAAGGAGAAAAAGGATG	0.423000													1	1	1	1	1	1	0.999970	16	51	0	64	0	0	0	0	0	64	5
RYR3	6263	broad.mit.edu	37	15	34123245	34123245	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34123245C>A	ENST00000389232.4	+	86	11486	c.11416C>A	c.(11416-11418)Ctg>Atg	p.L3806M	RYR3_ENST00000415757.3_Missense_Mutation_p.L3801M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	9	24	0	17	3806					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		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)		TTCCAAAGCTCTGGCAGTCAC	0.378000													1	0	1	1	1	1	0.999166	11	26	0	18	0	0	0	0	0	18	4
RYR3	6263	broad.mit.edu	37	15	34130278	34130278	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34130278G>A	ENST00000389232.4	+	89	12167	c.12097G>A	c.(12097-12099)Gag>Aag	p.E4033K	RYR3_ENST00000415757.3_Missense_Mutation_p.E4028K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	45	84	0	126	4033					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		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)		AGGACGCATCGAGATCATGGG	0.488000													1	1	1	1	1	1	1.000000	46	86	0	130	0	0	0	1	0	130	5
CHRM5	0	broad.mit.edu	37	15	34356260	34356260	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34356260C>A	ENST00000383263.5	+	3	2012	c.1342C>A	c.(1342-1344)Ctc>Atc	p.L448I	CHRM5_ENST00000557872.1_Missense_Mutation_p.L448I	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	31	54	0	83	448					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	GAGTGCCATTCTCCTGGCCTT	0.512000													1	1	1	1	1	1	1.000000	32	57	0	91	0	0	0	0	0	91	5
SLC12A6	9990	broad.mit.edu	37	15	34531322	34531322	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:34531322A>C	ENST00000354181.3	-	20	2968	c.2476T>G	c.(2476-2478)Ttc>Gtc	p.F826V	SLC12A6_ENST00000397707.2_Missense_Mutation_p.F811V|SLC12A6_ENST00000458406.2_Missense_Mutation_p.F767V|SLC12A6_ENST00000558589.1_Missense_Mutation_p.F817V|SLC12A6_ENST00000558667.1_Missense_Mutation_p.F826V|SLC12A6_ENST00000397702.2_Missense_Mutation_p.F767V|SLC12A6_ENST00000560164.1_Missense_Mutation_p.F638V|SLC12A6_ENST00000451844.2_Missense_Mutation_p.F638V|SLC12A6_ENST00000560611.1_Missense_Mutation_p.F826V|SLC12A6_ENST00000290209.5_Missense_Mutation_p.F775V			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	52	101	0	179	826					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)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		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)	AGCTGGCAGAATCCTTTTACC	0.527000													1	1	1	1	1	1	1.000000	55	106	0	194	0	1.194075e-01	1	1	0	194	5
MEIS2	4212	broad.mit.edu	37	15	37387806	37387806	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:37387806C>T	ENST00000338564.5	-	5	843	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	MEIS2_ENST00000559561.1_Missense_Mutation_p.E133K|MEIS2_ENST00000559085.1_Missense_Mutation_p.E120K|MEIS2_ENST00000424352.2_Missense_Mutation_p.E133K|MEIS2_ENST00000397624.3_Missense_Mutation_p.E45K|MEIS2_ENST00000397620.2_Missense_Mutation_p.E45K|MEIS2_ENST00000382766.2_Missense_Mutation_p.E133K|MEIS2_ENST00000340545.5_Missense_Mutation_p.E120K|MEIS2_ENST00000219869.9_5'UTR|MEIS2_ENST00000561208.1_Missense_Mutation_p.E133K|MEIS2_ENST00000557796.2_Missense_Mutation_p.E120K|MEIS2_ENST00000444725.1_Missense_Mutation_p.E133K	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	16	36	1	75	133					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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		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)		AGTGGCTTTTCGGCGCGAACC	0.478000													1	0	1	1	1	1	0.999544	18	37	1	78	1	9.891184e-01	14	11	1	78	4
FAM98B	283742	broad.mit.edu	37	15	38766438	38766438	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:38766438G>A	ENST00000397609.2	+	6	703	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	FAM98B_ENST00000491535.1_Missense_Mutation_p.R223Q	NM_173611.2	NP_775882.2	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	33	75	0	123	223						tRNA-splicing ligase complex	protein binding			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		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)		TGCCGCCGACGAATGTTAATG	0.378000													1	1	1	1	1	1	1.000000	33	77	0	126	1	1	47	56	0	126	5
PLCB2	5330	broad.mit.edu	37	15	40599857	40599857	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:40599857G>T	ENST00000260402.3	-	1	266	c.17C>A	c.(16-18)cCt>cAt	p.P6H	PLCB2_ENST00000456256.2_Missense_Mutation_p.P6H|PLCB2_ENST00000543785.2_Missense_Mutation_p.P6H|PLCB2_ENST00000557821.1_Missense_Mutation_p.P6H	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	4	36	0	44	6					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			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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)		CAGCAGGACAGGGTTGAGCAG	0.607000													1	0	1	1	1	1	0.941311	5	40	0	52	0	1.861702e-02	0	2	0	52	4
BAHD1	22893	broad.mit.edu	37	15	40754371	40754371	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:40754371C>T	ENST00000561234.1	+	3	1949	c.1690C>T	c.(1690-1692)Cgc>Tgc	p.R564C	BAHD1_ENST00000560846.1_Missense_Mutation_p.R565C|BAHD1_ENST00000416165.1_Missense_Mutation_p.R565C			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	39	59	0	122	565	Arg-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		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)		CAAGGCTGCCCGCAGGCCTAG	0.692000													1	1	1	1	1	1	1.000000	42	66	0	133	1	9.985790e-01	9	11	0	133	5
NDUFAF1	51103	broad.mit.edu	37	15	41680707	41680707	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:41680707T>C	ENST00000260361.4	-	4	1154	c.773A>G	c.(772-774)aAa>aGa	p.K258R		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	11	26	0	30	258					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		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)		GAAGAAAAATTTGGAAAAAGG	0.343000													1	1	1	1	1	1	0.999147	11	27	0	30	1	9.999035e-01	18	35	0	30	5
MGA	23269	broad.mit.edu	37	15	42040968	42040968	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42040968T>G	ENST00000219905.7	+	16	5527	c.5346T>G	c.(5344-5346)ctT>ctG	p.L1782L	MGA_ENST00000389936.4_Intron|MGA_ENST00000566586.1_Silent_p.L1573L|MGA_ENST00000570161.1_Silent_p.L1782L|MGA_ENST00000545763.1_Silent_p.L1573L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	12	46	0	48	1763						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		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)		ACACACAACTTCAGGGACATC	0.488000													1	1	1	1	0	1	0.999728	13	50	0	52	1	2.965017e-01	3	2	0	52	4
JMJD7-PLA2G4B	0	broad.mit.edu	37	15	42136685	42136685	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42136685T>G	ENST00000382448.4	+	17	1598	c.1589T>G	c.(1588-1590)aTt>aGt	p.I530S	JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.I299S|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.I530S|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.I299S	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		14	179	0	200	299	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			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GTGGTAGCTATTATGGCCACT	0.572000													1	1	1	1	0	1	0.999972	17	191	0	215	0	6.366787e-02	1	4	0	215	4
SPTBN5	51332	broad.mit.edu	37	15	42143119	42143119	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42143119C>A	ENST00000320955.6	-	66	11081	c.10854G>T	c.(10852-10854)gaG>gaT	p.E3618D		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	11	11	0	19	3618	PH.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		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)		CAAACAGGATCTCTGCCCCAC	0.672000													1	1	1	1	1	1	0.999826	12	11	0	20	1	9.998717e-01	9	15	0	20	5
PLA2G4E	123745	broad.mit.edu	37	15	42275988	42275988	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42275988C>A	ENST00000399518.3	-	20	3057	c.2571G>T	c.(2569-2571)gaG>gaT	p.E857D	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E828D	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	10	11	0	12	845					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCTTCTTCTTCTCCACTGCGA	0.562000													0	1	1	1	1	1	0.998849	10	13	0	13	0	0	0	0	0	13	4
ZNF106	64397	broad.mit.edu	37	15	42742156	42742156	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42742156G>A	ENST00000263805.4	-	2	2571	c.2245C>T	c.(2245-2247)Cca>Tca	p.P749S	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106	26	89	0	77									p.P749T(1)									TTGAGGTTTGGCTCAGGAAGG	0.512000													1	1	1	1	1	1	1.000000	26	93	0	79	0	2.165033e-01	0	3	0	79	5
ZNF106	64397	broad.mit.edu	37	15	42742690	42742690	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42742690C>A	ENST00000263805.4	-	2	2037	c.1711G>T	c.(1711-1713)Gaa>Taa	p.E571*	ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron	NM_022473.1	NP_071918.1			zinc finger protein 106	29	74	0	79																		TTTTCAGATTCTTCTACATTT	0.393000													1	1	1	1	1	1	1.000000	29	76	0	83	0	5.323499e-01	1	5	0	83	5
SNAP23	8773	broad.mit.edu	37	15	42807447	42807447	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:42807447G>A	ENST00000249647.3	+	5	629	c.161G>A	c.(160-162)cGc>cAc	p.R54H	SNAP23_ENST00000397138.1_Missense_Mutation_p.R54H|SNAP23_ENST00000567094.1_Missense_Mutation_p.R54H|SNAP23_ENST00000564153.1_Missense_Mutation_p.R54H|SNAP23_ENST00000349777.1_Missense_Mutation_p.R54H	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	12	45	0	56	54	t-SNARE coiled-coil homology 1.				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			large_intestine(1)|lung(1)	2		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)		CAACTAAACCGCATAGAAGAA	0.383000													1	1	0	1	1	1	0.999445	12	49	0	67	1	9.995490e-01	29	34	0	67	4
EPB42	2038	broad.mit.edu	37	15	43503726	43503726	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:43503726G>T	ENST00000300215.3	-	4	984	c.527C>A	c.(526-528)gCt>gAt	p.A176D	EPB42_ENST00000441366.2_Missense_Mutation_p.A146D|EPB42_ENST00000540029.1_Missense_Mutation_p.A68D			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	13	64	0	84	146					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			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		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)		CAGGAACACAGCATCCTCTGG	0.572000													1	1	1	1	1	1	0.999964	16	67	0	93	0	0	0	0	0	93	5
ADAL	161823	broad.mit.edu	37	15	43628012	43628012	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:43628012G>T	ENST00000422466.2	+	5	756	c.182G>T	c.(181-183)aGa>aTa	p.R61I	ADAL_ENST00000428046.3_Missense_Mutation_p.R61I|ADAL_ENST00000562188.1_Missense_Mutation_p.R61I|ADAL_ENST00000389651.4_Missense_Mutation_p.R61I			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	32	60	0	94	61					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GGAAAGAAAAGAACTTTGGAA	0.363000													1	1	1	1	1	1	1.000000	38	69	0	107	1	9.545329e-01	5	7	0	107	5
STRC	161497	broad.mit.edu	37	15	43892823	43892823	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:43892823C>A	ENST00000450892.2	-	26	4979	c.4902G>T	c.(4900-4902)gaG>gaT	p.E1634D	STRC_ENST00000541030.1_Missense_Mutation_p.E861D	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	17	77	0	79	1634					sensory perception of sound	cell surface				skin(4)	4		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)		GGGCCAGAACCTCCAGTTGTT	0.542000													1	1	1	1	1	1	0.999980	17	82	0	81	0	0	0	0	0	81	5
FRMD5	84978	broad.mit.edu	37	15	44180393	44180393	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44180393G>A	ENST00000417257.1	-	10	1040	c.864C>T	c.(862-864)atC>atT	p.I288I	FRMD5_ENST00000402883.1_Silent_p.I288I|FRMD5_ENST00000484674.1_Silent_p.I194I	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	17	33	0	52	288	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		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)		CTTGGTTCTCGATTCCACATT	0.448000													1	1	1	1	1	1	0.999990	17	38	0	61	1	9.675434e-01	5	11	0	61	5
CASC4	113201	broad.mit.edu	37	15	44673090	44673090	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44673090T>G	ENST00000299957.6	+	8	1287	c.988T>G	c.(988-990)Ttg>Gtg	p.L330V	CASC4_ENST00000345795.2_Missense_Mutation_p.L330V|CASC4_ENST00000360824.3_3'UTR	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	14	35	0	57	330						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		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)		AGGCTCAAACTTGGACAGTGA	0.393000													1	1	1	1	1	1	0.999889	14	39	0	63	1	9.999898e-01	35	36	0	63	5
CTDSPL2	51496	broad.mit.edu	37	15	44789312	44789312	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44789312G>A	ENST00000260327.4	+	7	1421	c.858G>A	c.(856-858)ccG>ccA	p.P286P	CTDSPL2_ENST00000558373.1_Silent_p.P214P|CTDSPL2_ENST00000558966.1_Silent_p.P286P|CTDSPL2_ENST00000561189.1_3'UTR|CTDSPL2_ENST00000396780.1_Silent_p.P214P	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	16	43	0	53	286	FCP1 homology.						phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		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)		GAAGCACACCGGAATTCTCCC	0.358000													1	1	1	1	1	1	0.999987	17	48	0	63	1	9.845681e-01	15	8	0	63	5
CTDSPL2	51496	broad.mit.edu	37	15	44811443	44811443	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44811443C>A	ENST00000260327.4	+	11	1752	c.1189C>A	c.(1189-1191)Ctt>Att	p.L397I	CTDSPL2_ENST00000558373.1_Missense_Mutation_p.L325I|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.L397I|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.L325I	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	17	29	0	48	397	FCP1 homology.						phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		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)		TGGAAGAGATCTTTCAAAAAC	0.313000													1	1	1	1	1	1	0.999996	18	32	0	49	1	9.997456e-01	15	15	0	49	5
SPG11	80208	broad.mit.edu	37	15	44943956	44943956	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:44943956T>G	ENST00000261866.7	-	6	1205	c.1189A>C	c.(1189-1191)Aat>Cat	p.N397H	SPG11_ENST00000558319.1_Missense_Mutation_p.N397H|SPG11_ENST00000535302.2_Missense_Mutation_p.N397H|SPG11_ENST00000559193.1_Missense_Mutation_p.N397H|SPG11_ENST00000427534.2_Missense_Mutation_p.N397H	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	34	54	0	91	397					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		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)		TGTAGAACATTATATTGCCCA	0.428000													1	1	1	1	1	1	1.000000	36	60	0	96	1	6.185837e-01	2	3	0	96	5
SEMA6D	80031	broad.mit.edu	37	15	48052094	48052094	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48052094C>T	ENST00000316364.5	+	2	538	c.99C>T	c.(97-99)gtC>gtT	p.V33V	SEMA6D_ENST00000537942.1_Silent_p.V33V|SEMA6D_ENST00000389433.2_Silent_p.V33V|SEMA6D_ENST00000389428.3_Silent_p.V33V|SEMA6D_ENST00000558014.1_Silent_p.V33V|SEMA6D_ENST00000389425.3_Silent_p.V33V|SEMA6D_ENST00000354744.4_Silent_p.V33V|SEMA6D_ENST00000558816.1_Silent_p.V33V|SEMA6D_ENST00000536845.2_Silent_p.V33V|SEMA6D_ENST00000355997.3_Silent_p.V33V|SEMA6D_ENST00000389432.2_Silent_p.V33V|SEMA6D_ENST00000358066.4_Silent_p.V33V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	14	22	0	43	33	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		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)		TTAATACTGTCGACTATCACT	0.438000													1	1	1	1	1	1	0.999934	14	22	0	46	0	0	0	0	0	46	5
SLC24A5	283652	broad.mit.edu	37	15	48434414	48434414	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48434414C>A	ENST00000341459.3	+	9	1442	c.1369C>A	c.(1369-1371)Cac>Aac	p.H457N	MYEF2_ENST00000324324.7_3'UTR|SLC24A5_ENST00000449382.2_Missense_Mutation_p.H397N|MYEF2_ENST00000267836.6_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	3	53	0	65	457					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TTTAGCAGTTCACTTCAATGG	0.348000													0	0	0	0	1	1	0.812573	3	54	0	68	1	9.588789e-01	17	101	0	68	1
SLC24A5	283652	broad.mit.edu	37	15	48434526	48434526	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48434526A>C	ENST00000341459.3	+	9	1554	c.1481A>C	c.(1480-1482)aAa>aCa	p.K494T	MYEF2_ENST00000324324.7_3'UTR|SLC24A5_ENST00000449382.2_Missense_Mutation_p.K434T|MYEF2_ENST00000267836.6_3'UTR	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	5	29	0	40	494					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GGAAATAATAAAATAAGGGGC	0.348000													1	0	1	1	1	1	0.969424	6	31	0	41	1	9.969922e-01	16	52	0	41	4
SLC12A1	6557	broad.mit.edu	37	15	48580301	48580301	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48580301A>C	ENST00000396577.3	+	22	2906	c.2691A>C	c.(2689-2691)gaA>gaC	p.E897D	SLC12A1_ENST00000380993.3_Missense_Mutation_p.E897D|SLC12A1_ENST00000558405.1_Missense_Mutation_p.E897D	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	6	9	0	20	897					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		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)	AACTGGTGGAAGCCAGCACTC	0.403000													1	0	1	1	1	1	0.975837	6	10	0	21	0	0	0	0	0	21	4
SLC12A1	6557	broad.mit.edu	37	15	48594949	48594949	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48594949G>A	ENST00000396577.3	+	27	3382	c.3167G>A	c.(3166-3168)aGc>aAc	p.S1056N	SLC12A1_ENST00000380993.3_Missense_Mutation_p.S1056N|SLC12A1_ENST00000558405.1_Missense_Mutation_p.S1056N	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	13	30	0	43	1056					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		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)	GTCATTAGGAGCCTTCCCGTG	0.388000													1	1	1	1	1	1	0.999956	15	33	0	55	0	0	0	0	0	55	5
FBN1	2200	broad.mit.edu	37	15	48776136	48776136	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:48776136G>A	ENST00000316623.5	-	31	4172	c.3717C>T	c.(3715-3717)atC>atT	p.I1239I		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	14	25	0	26	1239	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			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CACACTCATCGATGTCTGCAA	0.413000													1	1	1	1	1	1	0.999967	15	25	0	32	0	3.286016e-01	0	3	0	32	5
CEP152	22995	broad.mit.edu	37	15	49083511	49083511	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:49083511C>A	ENST00000380950.2	-	8	1082	c.895G>T	c.(895-897)Gaa>Taa	p.E299*	CEP152_ENST00000325747.5_Nonsense_Mutation_p.E206*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.E299*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	13	15	0	20	299					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ATCTCTCTTTCTTTTCCATTC	0.338000													1	1	1	1	1	1	0.999958	14	15	0	21	0	0	0	0	0	21	5
FGF7	2252	broad.mit.edu	37	15	49775360	49775360	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:49775360T>G	ENST00000267843.4	+	3	910	c.299T>G	c.(298-300)aTc>aGc	p.I100S	FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron|FAM227B_ENST00000299338.6_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	14	44	0	60	100					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	ATCATGGAAATCAGGACAGTG	0.373000													1	1	1	1	1	1	0.999939	15	49	0	67	1	8.631118e-01	2	12	0	67	5
ATP8B4	79895	broad.mit.edu	37	15	50366349	50366349	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:50366349T>C	ENST00000284509.6	-	3	203	c.62A>G	c.(61-63)gAa>gGa	p.E21G	ATP8B4_ENST00000559829.1_Missense_Mutation_p.E21G	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	17	30	0	43	21					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCATTATATTCACGGTCATT	0.368000													1	1	1	1	1	1	0.999999	20	31	0	46	0	0	0	0	0	46	5
USP8	9101	broad.mit.edu	37	15	50769684	50769684	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:50769684G>T	ENST00000433963.1	+	11	1706	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N	USP8_ENST00000425032.3_Missense_Mutation_p.K325N|USP8_ENST00000307179.4_Missense_Mutation_p.K402N|USP8_ENST00000396444.3_Missense_Mutation_p.K402N	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	29	48	0	59	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			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTAGTATAAAGAATGTTCCAC	0.373000													1	1	1	1	1	1	1.000000	30	52	0	66	1	9.939244e-01	7	11	0	66	5
AP4E1	23431	broad.mit.edu	37	15	51201024	51201024	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:51201024C>A	ENST00000261842.5	+	1	155	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	AP4E1_ENST00000560508.1_5'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	9	10	0	18	17					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GGGACTCTTTCTGCAGAACCA	0.721000													1	1	1	1	0	1	0.999070	10	10	0	22	0	0	0	0	0	22	4
AP4E1	23431	broad.mit.edu	37	15	51285572	51285572	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:51285572A>C	ENST00000261842.5	+	17	2202	c.2096A>C	c.(2095-2097)aAt>aCt	p.N699T	AP4E1_ENST00000560508.1_Missense_Mutation_p.N624T	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	6	24	0	16	699					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTTAGGACAAATAGCTTGAAG	0.388000													1	0	1	1	1	1	0.992492	8	25	0	17	1	7.142857e-02	2	0	0	17	4
MYO5C	55930	broad.mit.edu	37	15	52538226	52538226	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52538226T>A	ENST00000261839.7	-	17	2154	c.1993A>T	c.(1993-1995)Aga>Tga	p.R665*	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	5	17	0	21	665	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGAACAATTCTTTTGGAGTCA	0.458000													0	0	1	0	0	1	0.945659	5	17	0	22	1	5.324757e-01	2	5	0	22	1
MYO5A	4644	broad.mit.edu	37	15	52718065	52718065	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52718065G>T	ENST00000399231.3	-	4	660	c.417C>A	c.(415-417)atC>atA	p.I139I	MYO5A_ENST00000553916.1_Silent_p.I139I|MYO5A_ENST00000356338.6_Silent_p.I139I|MYO5A_ENST00000358212.6_Silent_p.I139I|MYO5A_ENST00000399233.2_Silent_p.I139I	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	20	32	0	64	139	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTACTGCAAAGATATGTGGAT	0.363000													1	1	1	1	1	1	1.000000	21	39	0	76	0	1.295443e-01	1	1	0	76	5
FAM214A	56204	broad.mit.edu	37	15	52897382	52897382	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52897382G>A	ENST00000261844.7	-	7	2560	c.2408C>T	c.(2407-2409)aCt>aTt	p.T803I	FAM214A_ENST00000546305.2_Missense_Mutation_p.T810I	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	6	103	0	87	803																	TCTGGTTGAAGTTCCATCCAA	0.338000													0	0	1	0	0	1	0.966191	6	117	0	102	1	5.158003e-01	2	30	0	102	1
FAM214A	56204	broad.mit.edu	37	15	52900777	52900777	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:52900777A>C	ENST00000261844.7	-	6	2486	c.2334T>G	c.(2332-2334)aaT>aaG	p.N778K	FAM214A_ENST00000546305.2_Missense_Mutation_p.N785K	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	29	34	0	57	778																	ATACCTCTGTATTTTTTGGTT	0.318000													1	1	1	1	1	1	1.000000	36	38	0	70	1	9.999060e-01	6	14	0	70	5
UNC13C	440279	broad.mit.edu	37	15	54307590	54307590	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:54307590G>T	ENST00000545554.1	+	1	2490	c.2490G>T	c.(2488-2490)atG>atT	p.M830I	UNC13C_ENST00000537900.1_Missense_Mutation_p.M830I|UNC13C_ENST00000260323.11_Missense_Mutation_p.M830I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	26	35	0	69	830					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTTCATTAATGGGGAGATTTC	0.443000													1	1	1	1	1	1	1.000000	29	42	0	73	0	0	0	0	0	73	5
CCPG1	9236	broad.mit.edu	37	15	55652205	55652205	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:55652205T>C	ENST00000310958.6	-	8	2064	c.1766A>G	c.(1765-1767)cAa>cGa	p.Q589R	CCPG1_ENST00000442196.3_Missense_Mutation_p.Q589R|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Missense_Mutation_p.Q589R	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	35	62	0	67	589					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TCCATCATTTTGCATAGTAGG	0.348000													1	1	1	1	1	1	1.000000	37	67	0	75	1	1	46	56	0	75	5
DYX1C1	161582	broad.mit.edu	37	15	55759161	55759161	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:55759161T>G	ENST00000321149.3	-	5	971	c.604A>C	c.(604-606)Aga>Cga	p.R202R	DYX1C1_ENST00000448430.2_Silent_p.R202R|DYX1C1_ENST00000348518.3_Silent_p.R202R|DYX1C1_ENST00000380679.1_Silent_p.R202R|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_Silent_p.R202R	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	11	31	0	38	202					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GCCAAATTTCTAGTAAGACtc	0.289000													1	1	1	1	1	1	0.999048	11	33	0	42	1	8.583822e-01	3	10	0	42	5
PRTG	283659	broad.mit.edu	37	15	55912375	55912375	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:55912375A>G	ENST00000389286.4	-	20	3335	c.3288T>C	c.(3286-3288)ggT>ggC	p.G1096G		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	35	60	0	111	1096					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGGTTGTCTGACCTGGGGAGC	0.488000													1	1	1	1	1	1	1.000000	39	64	0	119	0	0	0	0	0	119	5
RFX7	64864	broad.mit.edu	37	15	56388073	56388073	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:56388073T>C	ENST00000423270.1	-	9	1852	c.1853A>G	c.(1852-1854)aAt>aGt	p.N618S	RFX7_ENST00000422057.1_Missense_Mutation_p.N521S|RFX7_ENST00000317318.6_Missense_Mutation_p.N618S|RFX7_ENST00000559447.2_Missense_Mutation_p.N521S	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	21	18	0	38	521					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGTGCTTTGATTATTGCCTGT	0.413000													1	1	1	1	1	1	1.000000	23	19	0	40	0	3.030303e-01	1	1	0	40	5
MNS1	55329	broad.mit.edu	37	15	56748695	56748695	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:56748695C>A	ENST00000260453.3	-	3	414	c.250G>T	c.(250-252)Gaa>Taa	p.E84*		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	6	30	0	21	84	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		AGCTGGAGTTCTTTCAATCTC	0.333000													1	0	0	1	1	1	0.969070	6	34	0	24	1	9.532021e-01	6	29	0	24	3
MNS1	55329	broad.mit.edu	37	15	56748713	56748713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:56748713C>A	ENST00000260453.3	-	3	396	c.232G>T	c.(232-234)Gaa>Taa	p.E78*		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	6	28	0	22	78	Glu-rich.				meiosis			p.E78*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CTCTTGTTTTCTTCTGCCTGA	0.333000													1	0	1	1	1	1	0.991818	8	34	0	25	1	9.091609e-01	3	18	0	25	4
TCF12	6938	broad.mit.edu	37	15	57511760	57511760	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:57511760C>A	ENST00000343827.3	+	1	97	c.41C>A	c.(40-42)tCt>tAt	p.S14Y	TCF12_ENST00000267811.5_Intron|TCF12_ENST00000438423.2_Intron|TCF12_ENST00000333725.5_Intron|TCF12_ENST00000543579.1_Missense_Mutation_p.S14Y|TCF12_ENST00000452095.2_Intron|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000537840.1_5'UTR|TCF12_ENST00000557843.1_Intron	NM_207040.1	NP_996923.1	Q99081	HTF4_HUMAN	transcription factor 12	7	11	0	26	0					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		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GGCAGCAATTCTTTGATGTAT	0.358000			T	TEC	extraskeletal myxoid chondrosarcoma								1	0	1	1	1	1	0.994215	8	13	0	31	0	0	0	0	0	31	4
CCNB2	9133	broad.mit.edu	37	15	59399854	59399854	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:59399854A>C	ENST00000288207.2	+	3	443	c.252A>C	c.(250-252)gaA>gaC	p.E84D	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	16	39	0	70	84					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TACAGATGGAAAAGTTGGCTC	0.403000													1	1	1	1	1	1	0.999975	16	42	0	74	1	1	77	84	0	74	5
NARG2	79664	broad.mit.edu	37	15	60741464	60741464	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:60741464G>T	ENST00000261520.4	-	10	1936	c.1702C>A	c.(1702-1704)Ctc>Atc	p.L568I	NARG2_ENST00000439632.1_Missense_Mutation_p.L431I	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	26	37	0	49	568						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CTGCTGCAGAGAACTGTATCT	0.368000													1	1	1	1	1	1	1.000000	28	40	0	52	1	9.999021e-01	14	13	0	52	5
NARG2	79664	broad.mit.edu	37	15	60748989	60748989	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:60748989A>C	ENST00000261520.4	-	6	767	c.533T>G	c.(532-534)aTt>aGt	p.I178S	NARG2_ENST00000439632.1_Missense_Mutation_p.I41S|NARG2_ENST00000561114.1_Missense_Mutation_p.I178S	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	15	29	0	28	178						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGCTCTTAAAATTTTCTGAGA	0.303000													1	1	1	1	1	1	0.999992	17	31	0	33	1	9.038173e-01	7	3	0	33	5
VPS13C	54832	broad.mit.edu	37	15	62306143	62306143	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:62306143T>G	ENST00000261517.5	-	10	806	c.733A>C	c.(733-735)Att>Ctt	p.I245L	VPS13C_ENST00000395896.4_Missense_Mutation_p.I245L|VPS13C_ENST00000249837.3_Missense_Mutation_p.I202L|VPS13C_ENST00000395898.3_Missense_Mutation_p.I202L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	13	25	0	28	245					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGTATATAATTTTGTCTGCT	0.318000													1	1	1	1	1	1	0.999982	16	30	0	34	0	0	0	0	0	34	5
VPS13C	54832	broad.mit.edu	37	15	62315708	62315708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:62315708C>A	ENST00000261517.5	-	8	599	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E176*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E133*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E133*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	5	9	0	12	176	Lys-rich.				protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTTTGGCTTCTTTTGGCTTA	0.279000													0	0	1	1	1	1	0.950983	5	9	0	13	0	0	0	0	0	13	3
HERC1	8925	broad.mit.edu	37	15	63970231	63970231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:63970231G>A	ENST00000443617.2	-	37	6970	c.6883C>T	c.(6883-6885)Cag>Tag	p.Q2295*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	39	59	0	52	2295					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTCCTCAGCTGCAGCTCTGAG	0.512000													1	1	1	1	0	1	1.000000	39	61	0	53	0	0	0	0	0	53	4
HERC1	8925	broad.mit.edu	37	15	63972977	63972977	+	Splice_Site	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:63972977T>A	ENST00000443617.2	-	35	6313		c.e35-2		RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	23	30	0	71						protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AATATAAAACTAAAATAAAAG	0.313000													1	1	1	1	1	1	1.000000	23	31	0	75	0	0	0	0	0	75	5
ANKDD1A	348094	broad.mit.edu	37	15	65223707	65223707	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65223707C>T	ENST00000380230.3	+	8	721	c.692C>T	c.(691-693)tCg>tTg	p.S231L	ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.S140L|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.S140L|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.S231L|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.S231L	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	16	24	0	38	231					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GCCCTGCATTCGGCTGCTGGA	0.622000													1	1	1	1	1	1	0.999997	18	26	0	42	1	8.879357e-01	4	4	0	42	5
MTFMT	123263	broad.mit.edu	37	15	65295412	65295412	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65295412T>C	ENST00000220058.4	-	9	1171	c.1158A>G	c.(1156-1158)caA>caG	p.Q386Q		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	6	27	0	32	386						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	ACTCAATGCATTGTTGCATAG	0.323000													1	1	1	1	1	1	0.984402	7	29	0	35	1	9.844019e-01	17	19	0	35	5
CLPX	10845	broad.mit.edu	37	15	65450140	65450140	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65450140G>T	ENST00000300107.3	-	8	1189	c.1001C>A	c.(1000-1002)tCt>tAt	p.S334Y		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	10	81	0	76	334					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			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TGCAATCACAGATTCAATATC	0.418000													1	1	0	1	1	1	0.997397	10	85	0	81	1	9.837192e-01	10	54	0	81	4
CILP	8483	broad.mit.edu	37	15	65489882	65489882	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65489882G>T	ENST00000261883.4	-	9	2908	c.2742C>A	c.(2740-2742)ttC>ttA	p.F914L		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	33	62	0	72	914					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAATCTGGTAGAACCGGAAGT	0.547000													1	1	1	1	1	1	1.000000	36	65	0	73	1	5.852681e-01	2	3	0	73	5
DENND4A	10260	broad.mit.edu	37	15	65959785	65959785	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:65959785A>G	ENST00000443035.3	-	29	5454		c.e29+1		DENND4A_ENST00000431932.2_Splice_Site	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	16	27	0	31						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTAGTCTCATACCTTTGAATA	0.333000													1	1	1	1	1	1	0.999992	17	30	0	34	0	0	0	0	0	34	5
DENND4A	10260	broad.mit.edu	37	15	66048662	66048662	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:66048662C>A	ENST00000443035.3	-	3	342	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	DENND4A_ENST00000431932.2_Nonsense_Mutation_p.E43*	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	6	15	0	22	43	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.E43*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GTAATAGGTTCTTTTGGTTTA	0.373000													1	1	1	1	1	1	0.973097	6	15	0	22	0	1.014493e-01	0	2	0	22	5
MEGF11	84465	broad.mit.edu	37	15	66206168	66206168	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:66206168G>A	ENST00000409699.2	-	20	2789	c.2617C>T	c.(2617-2619)Cgg>Tgg	p.R873W	MEGF11_ENST00000395625.2_Missense_Mutation_p.R798W|MEGF11_ENST00000422354.1_Missense_Mutation_p.R873W|MEGF11_ENST00000395614.1_Missense_Mutation_p.R46W|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.R798W			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	12	46	0	46	873						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCCGCCGCCGATGCCAGGCA	0.612000													1	1	1	1	1	1	0.999734	13	48	0	46	1	1.306090e-01	3	0	0	46	5
DIS3L	115752	broad.mit.edu	37	15	66599214	66599214	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:66599214C>A	ENST00000319194.5	+	3	358	c.97C>A	c.(97-99)Ctc>Atc	p.L33I	DIS3L_ENST00000441424.2_Intron|DIS3L_ENST00000319212.4_Missense_Mutation_p.L116I	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	21	48	0	66	116					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGATTGCATTCTCTTTGCTAA	0.478000													1	1	1	1	1	1	1.000000	22	50	0	70	1	5.953416e-01	3	3	0	70	5
MAP2K5	5607	broad.mit.edu	37	15	68061960	68061960	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68061960T>C	ENST00000178640.5	+	20	1782	c.1155T>C	c.(1153-1155)gtT>gtC	p.V385V	MAP2K5_ENST00000340972.4_Silent_p.V195V|MAP2K5_ENST00000395476.2_Silent_p.V375V|MAP2K5_ENST00000354498.5_Silent_p.V349V	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	4	28	0	40	385	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TCCTTCCAGTTGGAGAGTTCT	0.453000													1	0	1	1	1	1	0.942316	5	31	0	45	1	9.926021e-01	8	60	0	45	4
SKOR1	390598	broad.mit.edu	37	15	68118465	68118465	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68118465T>C	ENST00000380035.2	+	2	357	c.299T>C	c.(298-300)cTg>cCg	p.L100P	SKOR1_ENST00000389002.1_Missense_Mutation_p.L91P|SKOR1_ENST00000341418.5_Missense_Mutation_p.L286P|SKOR1_ENST00000554054.1_Missense_Mutation_p.L72P|SKOR1_ENST00000554240.1_Missense_Mutation_p.L61P			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	6	76	0	93	100					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			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGCCTATGCCTGGCGCAGATC	0.627000													1	0	1	1	0	1	0.966826	6	78	0	97	0	0	0	0	0	97	3
PIAS1	8554	broad.mit.edu	37	15	68378827	68378827	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68378827A>G	ENST00000545237.1	+	3	955	c.214A>G	c.(214-216)Atg>Gtg	p.M72V	PIAS1_ENST00000249636.6_Missense_Mutation_p.M70V			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	36	71	0	95	70					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						ACAGAAAATCATGACGCCTGC	0.478000													1	1	1	1	1	1	1.000000	39	75	0	98	1	9.999857e-01	21	18	0	98	5
FEM1B	10116	broad.mit.edu	37	15	68583077	68583077	+	Missense_Mutation	SNP	G	G	A	rs147988457		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68583077G>A	ENST00000306917.4	+	2	1996	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	30	67	0	88	461					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	p.E461delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						ACAGTGCAGCGAAGAAGATCA	0.403000													1	1	1	1	1	1	1.000000	32	70	0	94	1	9.795347e-01	5	11	0	94	5
ITGA11	22801	broad.mit.edu	37	15	68654041	68654041	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:68654041G>A	ENST00000423218.2	-	5	454	c.357_splice	c.e5-1	p.A120_splice	ITGA11_ENST00000315757.7_Splice_Site_p.A120_splice|ITGA11_ENST00000562826.1_5'UTR			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	5	18	0	13	120					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGGGCTGCAGGCCTGGGGAGG	0.602000													0	0	1	0	1	1	0.944924	5	19	0	14	0	5.982906e-02	0	2	0	14	2
ANP32A	8125	broad.mit.edu	37	15	69076874	69076874	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69076874C>T	ENST00000465139.2	-	4	531	c.388G>A	c.(388-390)Gac>Aac	p.D130N	ANP32A_ENST00000560303.1_Missense_Mutation_p.D130N|ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	36	48	0	57	130	LRRCT.				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			endometrium(1)|large_intestine(1)|lung(2)	4						TCTCGGTAGTCGTTCAGGTTG	0.483000													1	1	1	1	1	1	1.000000	40	56	0	66	1	1	109	147	0	66	5
SPESP1	246777	broad.mit.edu	37	15	69238254	69238254	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69238254C>T	ENST00000310673.3	+	2	535	c.381C>T	c.(379-381)aaC>aaT	p.N127N	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	17	38	0	42	127					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TCAAACCAAACAATGTTTCCA	0.443000													1	1	1	1	1	1	0.999990	17	38	0	43	0	0	0	0	0	43	5
SPESP1	246777	broad.mit.edu	37	15	69238515	69238515	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69238515T>G	ENST00000310673.3	+	2	796	c.642T>G	c.(640-642)ttT>ttG	p.F214L	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	47	67	0	94	214					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CCGAAGAGTTTGGAAAGCACC	0.403000													1	0	1	1	1	1	1.000000	51	68	1	97	0	0	0	0	1	97	4
KIF23	9493	broad.mit.edu	37	15	69715499	69715499	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:69715499C>T	ENST00000260363.4	+	7	682	c.563_splice	c.e7-1	p.R189_splice	KIF23_ENST00000537891.1_5'UTR|KIF23_ENST00000395392.2_Splice_Site_p.R189_splice|KIF23_ENST00000559279.1_Splice_Site_p.R189_splice|KIF23_ENST00000558585.1_5'UTR|KIF23_ENST00000352331.4_Splice_Site_p.R189_splice	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	12	30	0	55	189	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			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTTTTTTAGACGACAAGTAGA	0.373000													1	1	1	1	0	1	0.999533	12	34	0	62	0	8.671692e-01	0	13	0	62	4
UACA	55075	broad.mit.edu	37	15	70960671	70960671	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:70960671T>A	ENST00000322954.6	-	16	2537	c.2352A>T	c.(2350-2352)aaA>aaT	p.K784N	UACA_ENST00000560441.1_Missense_Mutation_p.K769N|UACA_ENST00000379983.2_Missense_Mutation_p.K771N|UACA_ENST00000539319.1_Missense_Mutation_p.K675N	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	7	21	0	28	784						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CCAGTAGCAATTTCTCCATTT	0.328000													1	1	1	1	1	1	0.985354	7	22	0	28	1	9.887123e-01	15	16	0	28	5
MYO9A	4649	broad.mit.edu	37	15	72190380	72190380	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:72190380C>A	ENST00000356056.5	-	25	4936	c.4464G>T	c.(4462-4464)aaG>aaT	p.K1488N	MYO9A_ENST00000564571.1_Missense_Mutation_p.K1488N|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.K1108N|MYO9A_ENST00000444904.1_Missense_Mutation_p.K1469N|MYO9A_ENST00000424560.1_Missense_Mutation_p.K1488N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	16	42	0	46	1488	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			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTCTAACTTCTTAAGCACAG	0.378000													1	1	1	1	1	1	0.999997	19	45	0	47	0	9.497965e-02	1	1	0	47	5
PKM	5315	broad.mit.edu	37	15	72499185	72499185	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:72499185G>A	ENST00000319622.6	-	8	1480	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	PKM_ENST00000568459.1_Missense_Mutation_p.R342W|PKM_ENST00000565184.1_Missense_Mutation_p.R342W|PKM_ENST00000565154.1_Missense_Mutation_p.R342W|PKM_ENST00000449901.2_Missense_Mutation_p.R327W|PKM_ENST00000389093.3_Missense_Mutation_p.R342W|PKM_ENST00000335181.5_Missense_Mutation_p.R342W|PKM_ENST00000568883.1_Missense_Mutation_p.R177W	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle	17	28	0	47											endometrium(1)|lung(7)	8						CCTTCAGCCCGAGTGGGGCGG	0.547000													1	1	1	1	1	1	0.999992	17	29	0	55	1	1	1859	2227	0	55	5
ARIH1	25820	broad.mit.edu	37	15	72855808	72855808	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:72855808A>G	ENST00000379887.4	+	7	1192	c.878A>G	c.(877-879)aAa>aGa	p.K293R		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	11	44	0	62	293					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						CCTGATGCTAAACCTGTTCGC	0.393000													1	1	1	1	1	1	0.998843	11	52	0	69	1	9.954663e-01	25	23	0	69	5
ADPGK	83440	broad.mit.edu	37	15	73045231	73045231	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:73045231G>A	ENST00000311669.8	-	7	1035	c.942C>T	c.(940-942)gtC>gtT	p.V314V	ADPGK_ENST00000456471.2_Silent_p.V40V	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	22	24	0	36	315	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CCGCGGGAAAGACCTGCTAAC	0.483000													1	1	1	1	1	1	1.000000	22	24	0	37	1	1	30	40	0	37	5
NEO1	4756	broad.mit.edu	37	15	73470720	73470720	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:73470720G>T	ENST00000339362.5	+	8	1690	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	NEO1_ENST00000560262.1_Missense_Mutation_p.D415Y|NEO1_ENST00000261908.6_Missense_Mutation_p.D415Y|NEO1_ENST00000558964.1_Missense_Mutation_p.D415Y			Q92859	NEO1_HUMAN	neogenin 1	5	18	0	38	415	Ig-like C2-type 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TGCTGAAAATGATGTTGGAAA	0.383000													1	0	1	1	1	1	0.944603	5	20	0	42	1	8.891095e-01	8	11	0	42	4
NEO1	4756	broad.mit.edu	37	15	73566199	73566199	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:73566199T>C	ENST00000339362.5	+	21	3460	c.3013T>C	c.(3013-3015)Tgg>Cgg	p.W1005R	NEO1_ENST00000560262.1_Missense_Mutation_p.W1005R|NEO1_ENST00000261908.6_Missense_Mutation_p.W1005R|NEO1_ENST00000558964.1_Missense_Mutation_p.W1005R			Q92859	NEO1_HUMAN	neogenin 1	18	41	0	57	1005	Fibronectin type-III 6.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GATACATGACTGGGTTATTGA	0.403000													1	1	1	1	1	1	0.999999	20	46	0	67	1	9.999906e-01	30	24	0	67	5
TBC1D21	161514	broad.mit.edu	37	15	74174038	74174038	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:74174038C>A	ENST00000300504.2	+	3	305	c.222C>A	c.(220-222)ttC>ttA	p.F74L	TBC1D21_ENST00000535547.2_Missense_Mutation_p.F38L|TBC1D21_ENST00000562056.1_Missense_Mutation_p.F74L	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	21	44	0	58	74	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CGGGCTACTTCTCATGGCAGA	0.617000													1	1	1	1	1	1	1.000000	22	49	0	70	0	0	0	0	0	70	5
C15orf27	123591	broad.mit.edu	37	15	76462186	76462186	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:76462186C>A	ENST00000388942.3	+	6	762	c.486C>A	c.(484-486)atC>atA	p.I162I		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	86	152	0	214	162						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TGCTTGGGATCTGGGATTACA	0.498000													1	1	1	1	1	1	1.000000	96	167	0	243	0	1.348560e-01	0	2	0	243	5
PSTPIP1	9051	broad.mit.edu	37	15	77329411	77329411	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:77329411C>T	ENST00000558012.1	+	15	1634	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	PSTPIP1_ENST00000379595.3_Missense_Mutation_p.A379V|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.A363V|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.A362V|PSTPIP1_ENST00000557995.1_3'UTR	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	19	42	0	85	382	SH3.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GACCTGTCCGCGGGAGACATC	0.627000													1	1	1	1	1	1	0.999999	20	44	0	94	0	7.631465e-01	0	8	0	94	5
PEAK1	79834	broad.mit.edu	37	15	77473298	77473298	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:77473298G>T	ENST00000560626.2	-	4	1446	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	PEAK1_ENST00000312493.4_Missense_Mutation_p.S324Y|PEAK1_ENST00000558305.1_Missense_Mutation_p.S324Y			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	25	34	0	59	324	Ser-rich.				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										AGAGACCACAGAATTTTCCTC	0.443000													1	1	1	1	1	1	1.000000	25	38	0	61	0	3.541384e-01	0	3	0	61	5
DNAJA4	55466	broad.mit.edu	37	15	78557106	78557106	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78557106A>C	ENST00000394855.3	+	2	316	c.88A>C	c.(88-90)Atg>Ctg	p.M30L	DNAJA4_ENST00000489435.2_Missense_Mutation_p.M30L|DNAJA4_ENST00000394852.3_Start_Codon_SNP_p.M1L|DNAJA4_ENST00000343789.3_Start_Codon_SNP_p.M1L	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	8	21	0	18	1	J.				protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						CAGACACAAGATGGTGAAGGA	0.721000													0	0	1	0	0	1	0.992801	8	22	0	22	1	6.765486e-01	7	1	0	22	1
CRABP1	1381	broad.mit.edu	37	15	78633519	78633519	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78633519G>A	ENST00000299529.6	+	2	310	c.205G>A	c.(205-207)Gga>Aga	p.G69R		NM_004378.2	NP_004369.1	P29762	RABP1_HUMAN	cellular retinoic acid binding protein 1	5	14	0	25	69					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	CTTCAAGGTCGGAGAAGGCTT	0.637000													1	0	1	1	1	1	0.987210	7	14	0	25	1	9.655623e-01	7	9	0	25	4
HYKK	123688	broad.mit.edu	37	15	78805633	78805633	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78805633A>G	ENST00000566332.1	+	2	263	c.203A>G	c.(202-204)aAc>aGc	p.N68S	HYKK_ENST00000408962.2_Missense_Mutation_p.N68S|HYKK_ENST00000569878.1_Missense_Mutation_p.N68S|HYKK_ENST00000388988.4_Missense_Mutation_p.N68S|HYKK_ENST00000563233.1_Missense_Mutation_p.N68S|HYKK_ENST00000360519.3_Missense_Mutation_p.N68S					hydroxylysine kinase	34	73	0	92																		AAAATAAGCAACACCAAGGCT	0.438000													1	1	1	1	1	1	1.000000	36	78	0	99	1	8.675538e-01	6	4	0	99	5
PSMA4	5685	broad.mit.edu	37	15	78837280	78837280	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:78837280A>C	ENST00000044462.7	+	6	507	c.357A>C	c.(355-357)caA>caC	p.Q119H	PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558281.1_Missense_Mutation_p.Q119H|PSMA4_ENST00000558341.1_Intron|PSMA4_ENST00000559082.1_Missense_Mutation_p.Q119H|PSMA4_ENST00000558094.1_Missense_Mutation_p.Q31H|PSMA4_ENST00000560217.1_Missense_Mutation_p.Q88H|PSMA4_ENST00000413382.2_Missense_Mutation_p.Q48H	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	11	18	0	29	119					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			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						ATATCAAACAAGCTTATACAC	0.313000													1	1	1	1	1	1	0.999869	13	19	0	31	1	1	272	350	0	31	5
RASGRF1	5923	broad.mit.edu	37	15	79294116	79294116	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:79294116G>T	ENST00000419573.3	-	17	2785	c.2511C>A	c.(2509-2511)tcC>tcA	p.S837S	RASGRF1_ENST00000558480.2_Silent_p.S821S|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Silent_p.S53S	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	20	39	0	62	839					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			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCTCTCTCATGGAGACTTCTG	0.284000													0	0	1	0	0	1	0.999999	20	41	0	63	1	3.983209e-01	4	0	0	63	1
RASGRF1	5923	broad.mit.edu	37	15	79320125	79320125	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:79320125A>C	ENST00000419573.3	-	9	1613	c.1339T>G	c.(1339-1341)Tgt>Ggt	p.C447G	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.C447G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	5	109	0	108	447					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			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGGATCTCACAGCCTTCGATG	0.577000													1	0	1	1	0	1	0.966202	6	116	0	120	0	0	0	0	0	120	3
MTHFS	10588	broad.mit.edu	37	15	80137599	80137599	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:80137599C>T	ENST00000258874.3	-	3	625	c.565G>A	c.(565-567)Gac>Aac	p.D189N	ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.D165N	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	13	78	0	105	189					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	p.D189N(1)		endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		ACCTTCATGTCGTTTTCATTC	0.433000													1	1	1	1	0	1	0.999980	17	87	0	118	1	9.999886e-01	32	80	0	118	4
IL16	3603	broad.mit.edu	37	15	81565534	81565534	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:81565534G>T	ENST00000394660.2	+	6	1139	c.779G>T	c.(778-780)aGg>aTg	p.R260M	IL16_ENST00000302987.4_Missense_Mutation_p.R260M	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	16	35	0	54	260	Interaction with GRIN2A.|PDZ 1.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCCGATGGAAGGCTACAGGAA	0.517000													1	1	1	1	1	1	0.999991	17	35	0	61	0	0	1	0	0	61	5
IL16	3603	broad.mit.edu	37	15	81598795	81598795	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:81598795G>T	ENST00000394660.2	+	18	4071	c.3711G>T	c.(3709-3711)gaG>gaT	p.E1237D	IL16_ENST00000394652.2_Missense_Mutation_p.E537D|IL16_ENST00000302987.4_Missense_Mutation_p.E1238D|RP11-761I4.4_ENST00000607019.1_RNA	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	57	122	0	192	1238	PDZ 4.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGACACTGGAGAAGATGTCGG	0.567000													1	1	1	1	1	1	1.000000	59	135	0	206	0	4.831846e-01	0	5	0	206	5
FAM154B	283726	broad.mit.edu	37	15	82575144	82575144	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:82575144T>G	ENST00000339465.5	+	3	1007	c.938T>G	c.(937-939)tTt>tGt	p.F313C	FAM154B_ENST00000427381.2_Missense_Mutation_p.F298C|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	25	39	0	43	313										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TCTGGAAAATTTGATGGTTTG	0.393000													1	1	1	1	1	1	1.000000	28	41	0	47	0	0	0	0	0	47	5
BNC1	646	broad.mit.edu	37	15	83926268	83926268	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:83926268G>A	ENST00000345382.2	-	5	2996	c.2911C>T	c.(2911-2913)Cgc>Tgc	p.R971C	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R964C	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	47	88	0	157	971					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTTCGACTGCGAACAGACGAA	0.507000													1	1	1	1	1	1	1.000000	48	95	0	163	0	0	1	0	0	163	5
ADAMTSL3	57188	broad.mit.edu	37	15	84558912	84558912	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:84558912T>G	ENST00000286744.5	+	11	1348	c.1124T>G	c.(1123-1125)gTt>gGt	p.V375G	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.V375G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	15	96	0	98	375						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGAGGGTAGTTCCTGACCAT	0.403000													1	1	1	1	1	1	0.999955	16	102	0	102	0	2.107438e-02	1	1	0	102	5
PDE8A	5151	broad.mit.edu	37	15	85664054	85664054	+	Silent	SNP	C	C	T	rs149557632		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:85664054C>T	ENST00000310298.4	+	19	2013	c.1761C>T	c.(1759-1761)gtC>gtT	p.V587V	PDE8A_ENST00000557957.1_Silent_p.V515V|PDE8A_ENST00000394553.1_Silent_p.V587V|PDE8A_ENST00000339708.5_Silent_p.V541V			O60658	PDE8A_HUMAN	phosphodiesterase 8A	24	48	0	80	587	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.V587V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TTGATGAGGTCGCTGCACTCA	0.448000													1	1	1	1	1	1	1.000000	29	53	0	88	1	9.947585e-01	9	10	0	88	5
ISG20	3669	broad.mit.edu	37	15	89198710	89198710	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:89198710C>T	ENST00000306072.5	+	4	852	c.494C>T	c.(493-495)tCc>tTc	p.S165F	ISG20_ENST00000560746.1_3'UTR|ISG20_ENST00000560741.1_Missense_Mutation_p.S165F	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	20	33	0	70	165					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			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			TATCAAATCTCCCAGAGAATC	0.587000													1	1	1	1	1	1	0.999999	20	37	0	72	1	1	36	60	0	72	5
ACAN	176	broad.mit.edu	37	15	89401045	89401045	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:89401045T>C	ENST00000439576.2	+	12	5603	c.5229T>C	c.(5227-5229)ccT>ccC	p.P1743P	ACAN_ENST00000561243.1_Silent_p.P1743P|ACAN_ENST00000352105.7_Silent_p.P1743P|ACAN_ENST00000559004.1_Silent_p.P1743P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	52	99	0	132	1743					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGGGTTTCCTGACACTAGTG	0.512000													1	1	1	1	1	1	1.000000	52	101	0	133	0	0	0	0	0	133	5
FANCI	55215	broad.mit.edu	37	15	89817466	89817466	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:89817466A>C	ENST00000310775.7	+	12	1129	c.1043A>C	c.(1042-1044)aAa>aCa	p.K348T	FANCI_ENST00000300027.8_Missense_Mutation_p.K348T	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	7	9	0	12	348					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAAGGCTCAAAATTTCTTCAG	0.328000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				0	0	1	1	1	1	0.989284	7	9	0	13	1	9.819123e-01	9	5	0	13	3
RHCG	51458	broad.mit.edu	37	15	90039673	90039673	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:90039673C>T	ENST00000268122.4	-	1	171	c.103G>A	c.(103-105)Gag>Aag	p.E35K	RHCG_ENST00000544600.1_Missense_Mutation_p.E35K	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	57	134	2	208	35					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			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GCGTCGGCCTCGAAGTCGTAG	0.592000													1	0	0	1	1	1	1.000000	65	148	2	224	0	0	0	0	2	224	3
ANPEP	290	broad.mit.edu	37	15	90349269	90349269	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:90349269G>A	ENST00000300060.6	-	2	859	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	10	107	0	113	182	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			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	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)	ACTCCCCCTCGAACTCGCTGT	0.607000													1	1	1	1	0	1	0.997258	10	117	0	124	0	6.552449e-01	1	26	0	124	4
IDH2	3418	broad.mit.edu	37	15	90630471	90630471	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:90630471C>A	ENST00000330062.3	-	7	953	c.840G>T	c.(838-840)aaG>aaT	p.K280N	IDH2_ENST00000540499.2_Missense_Mutation_p.K228N|IDH2_ENST00000539790.1_Missense_Mutation_p.K150N|IDH2_ENST00000559482.1_Missense_Mutation_p.K171N	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	32	51	0	86	280					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			AGATCTTATTCTTGTCGAAGT	0.542000			M		GBM						OREG0023466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	34	54	0	87	1	1	115	177	0	87	5
SV2B	9899	broad.mit.edu	37	15	91827259	91827259	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:91827259G>A	ENST00000394232.1	+	11	1986	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	SV2B_ENST00000330276.4_Missense_Mutation_p.E506K|SV2B_ENST00000545111.2_Missense_Mutation_p.E355K	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	73	147	0	190	506					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AGACCTCTACGAGCACAAGTT	0.512000													1	1	1	1	1	1	1.000000	84	155	0	211	0	0	0	0	0	211	5
IGF1R	3480	broad.mit.edu	37	15	99500656	99500656	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:99500656G>A	ENST00000268035.6	+	21	4700	c.4089G>A	c.(4087-4089)caG>caA	p.Q1363Q	IGF1R_ENST00000558762.1_Silent_p.Q1362Q|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	23	41	0	58	1363					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	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)	CGCTGCCCCAGTCTTCGACCT	0.622000													1	1	1	1	1	1	1.000000	26	48	0	67	1	9.976393e-01	10	11	0	67	5
SYNM	23336	broad.mit.edu	37	15	99672121	99672121	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:99672121G>T	ENST00000336292.6	+	5	3673	c.3553G>T	c.(3553-3555)Gaa>Taa	p.E1185*	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	16	25	0	35	1186	Interaction with TLN1 and VCL.|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			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						ACTGTCCAGAGAAGTCATCTT	0.627000													1	1	1	1	1	1	0.999994	17	25	0	36	0	0	0	1	0	36	5
CERS3	204219	broad.mit.edu	37	15	101031086	101031086	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101031086C>T	ENST00000284382.4	-	5	647	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	CERS3_ENST00000538112.2_Missense_Mutation_p.R75Q|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000394113.1_Missense_Mutation_p.R75Q	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	16	33	0	36	75						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGTAACCTTTCGAACTGTCTC	0.308000													1	1	1	1	1	1	0.999995	18	39	0	42	0	0	0	0	0	42	5
CERS3	204219	broad.mit.edu	37	15	101031134	101031134	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101031134A>C	ENST00000284382.4	-	5	599	c.176T>G	c.(175-177)tTt>tGt	p.F59C	CERS3_ENST00000538112.2_Missense_Mutation_p.F59C|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000394113.1_Missense_Mutation_p.F59C	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	16	25	0	30	59						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGAAGCAACAAATCTACAAAA	0.313000													1	1	1	1	1	1	0.999997	18	26	0	30	0	0	0	0	0	30	5
LINS	55180	broad.mit.edu	37	15	101109703	101109703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101109703C>A	ENST00000314742.8	-	7	2236	c.2014G>T	c.(2014-2016)Gaa>Taa	p.E672*		NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	22	48	0	71	672										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AGGCTAAATTCTTTTTTATCC	0.438000													1	1	1	1	1	1	1.000000	23	48	0	72	1	9.920740e-01	6	13	0	72	5
ALDH1A3	220	broad.mit.edu	37	15	101432738	101432738	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101432738G>A	ENST00000329841.5	+	4	901	c.369G>A	c.(367-369)ggG>ggA	p.G123G	ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	45	78	0	114	123					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	TGGATACAGGGAAGCCATTTC	0.463000													1	1	1	1	1	1	1.000000	47	89	0	126	0	4.328792e-01	0	4	0	126	5
LRRK1	79705	broad.mit.edu	37	15	101464879	101464879	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101464879T>G	ENST00000388948.3	+	2	401	c.42T>G	c.(40-42)tgT>tgG	p.C14W	LRRK1_ENST00000532029.2_Missense_Mutation_p.C14W|LRRK1_ENST00000284395.5_5'UTR	NM_024652.3	NP_078928.3	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	12	81	0	92	14					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	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)			TGTACTGGTGTGTGGGGCCGG	0.602000													1	1	1	1	1	1	0.999826	14	91	0	103	0	0	0	0	0	103	5
SNRPA1	6627	broad.mit.edu	37	15	101832242	101832242	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101832242A>G	ENST00000254193.6	-	3	306	c.234T>C	c.(232-234)cgT>cgC	p.R78R	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	56	91	0	117	78						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	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)			CCTCACCTATACGGCTAAAAT	0.388000													1	1	1	1	1	1	1.000000	58	97	0	127	1	1	65	74	0	127	5
PCSK6	5046	broad.mit.edu	37	15	101938712	101938712	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:101938712T>C	ENST00000348070.1	-	8	889	c.890A>G	c.(889-891)tAc>tGc	p.Y297C	PCSK6_ENST00000398181.2_Missense_Mutation_p.Y297C|PCSK6_ENST00000358417.3_Missense_Mutation_p.Y297C|PCSK6_ENST00000331826.7_Missense_Mutation_p.Y132C|PCSK6_ENST00000344273.2_Missense_Mutation_p.Y297C|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	46	63	0	124	298	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			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	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)			AATGTCGATGTAGTTGGGTCT	0.607000													1	1	1	1	1	1	1.000000	49	68	0	126	1	9.993738e-01	8	12	0	126	5
OR4F15	390649	broad.mit.edu	37	15	102359228	102359228	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr15:102359228C>A	ENST00000332238.4	+	1	863	c.839C>A	c.(838-840)cCt>cAt	p.P280H		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	20	33	0	57	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	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)			TTTATTACTCCTTTTCTGAAT	0.388000													1	1	1	1	1	1	1.000000	21	33	0	60	0	0	0	0	0	60	5
MPG	4350	broad.mit.edu	37	16	129447	129447	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:129447G>T	ENST00000219431.4	+	3	294	c.63G>T	c.(61-63)aaG>aaT	p.K21N	MPG_ENST00000475280.1_3'UTR|MPG_ENST00000397817.1_Missense_Mutation_p.K4N	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	20	57	0	114	21					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		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)				TGGGGCAAAAGAAGCAGCGAC	0.562000								Base excision repair (BER), DNA glycosylases					1	1	1	1	1	1	1.000000	22	66	0	132	1	1	43	67	0	132	5
C16orf11	146325	broad.mit.edu	37	16	613438	613438	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:613438G>T	ENST00000409413.3	+	2	423	c.144G>T	c.(142-144)gaG>gaT	p.E48D		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	33	88	0	78	48										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTGCCTGGAGAAGTCACACC	0.612000													1	1	1	1	1	1	1.000000	37	101	0	90	0	0	0	0	0	90	5
WDR90	197335	broad.mit.edu	37	16	700589	700589	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:700589G>A	ENST00000549091.1	+	5	531	c.439G>A	c.(439-441)Gat>Aat	p.D147N	WDR90_ENST00000293879.4_Missense_Mutation_p.D147N	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	3	65	0	77	147								p.D147N(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCTGCAGCTCGATCTGCAGGA	0.647000													0	0	0	0	1	1	0.892251	4	71	0	81	1	4.061804e-01	4	18	0	81	1
JMJD8	339123	broad.mit.edu	37	16	733859	733859	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:733859A>G	ENST00000293882.4	-	3	435		c.e3+1		JMJD8_ENST00000454700.1_Splice_Site|JMJD8_ENST00000412368.2_Splice_Site|JMJD8_ENST00000562824.1_Splice_Site|JMJD8_ENST00000562111.1_Splice_Site			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	4	8	0	9											breast(1)	1						GCACGCGCTCACCGAGTTGTC	0.731000													0	0	1	0	0	1	0.901932	4	9	0	9	1	9.983880e-01	14	5	0	9	1
FBXL16	146330	broad.mit.edu	37	16	747067	747067	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:747067C>A	ENST00000397621.1	-	2	670	c.339G>T	c.(337-339)gaG>gaT	p.E113D	FBXL16_ENST00000324361.5_Missense_Mutation_p.E113D	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	19	42	0	38	113	F-box.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GCACACACTTCTCGCAGGCCG	0.662000													1	1	1	1	0	1	1.000000	22	45	0	46	0	0	0	0	0	46	4
PRR25	388199	broad.mit.edu	37	16	855733	855733	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:855733G>A	ENST00000301698.1	+	1	291	c.291G>A	c.(289-291)gcG>gcA	p.A97A		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	11	22	0	31	97										large_intestine(1)|lung(1)|skin(1)	3						CAGGAACAGCGCAGCCGCTCG	0.647000													1	1	1	1	1	1	0.999594	12	27	0	33	0	0	0	0	0	33	5
SSTR5	0	broad.mit.edu	37	16	1129540	1129540	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1129540C>T	ENST00000293897.4	+	1	760	c.672C>T	c.(670-672)atC>atT	p.I224I	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Silent_p.I224I	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	17	25	0	54	224					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	ACCTGCTCATCGTGGTGAAGG	0.687000													1	1	1	1	1	1	0.999999	19	30	0	61	0	0	0	0	0	61	5
CACNA1H	8912	broad.mit.edu	37	16	1255242	1255242	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1255242C>T	ENST00000348261.5	+	11	2828	c.2580C>T	c.(2578-2580)ttC>ttT	p.F860F	CACNA1H_ENST00000358590.4_Silent_p.F860F|CACNA1H_ENST00000565831.1_Silent_p.F860F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	41	47	1	106	860					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(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACAACATCTTCGACGGCATCA	0.602000													1	0	1	1	1	1	1.000000	47	50	1	128	0	6.609781e-01	0	4	1	128	4
CACNA1H	8912	broad.mit.edu	37	16	1267977	1267977	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1267977C>T	ENST00000348261.5	+	32	5630	c.5382C>T	c.(5380-5382)ttC>ttT	p.F1794F	CACNA1H_ENST00000358590.4_Silent_p.F1788F|CACNA1H_ENST00000565831.1_Silent_p.F1788F	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	6	9	0	14	1794					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(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCAGCAACTTCGGCATGGCCT	0.682000													0	0	1	1	1	1	0.975837	6	10	0	15	0	7.818459e-01	0	7	0	15	3
CACNA1H	8912	broad.mit.edu	37	16	1270813	1270813	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1270813C>A	ENST00000348261.5	+	35	7129	c.6881C>A	c.(6880-6882)gCt>gAt	p.A2294D	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A2288D|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A2288D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	33	77	0	149	2294					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(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GAATCCAGAGCTTCCTCTTCA	0.632000													1	1	1	1	1	1	1.000000	38	90	0	160	0	5.757725e-01	1	5	0	160	5
CACNA1H	8912	broad.mit.edu	37	16	1270889	1270889	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1270889G>T	ENST00000348261.5	+	35	7205	c.6957G>T	c.(6955-6957)gaG>gaT	p.E2319D	CACNA1H_ENST00000358590.4_Missense_Mutation_p.E2313D|CACNA1H_ENST00000565831.1_Missense_Mutation_p.E2313D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	30	60	0	162	2319					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(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACCCCCCAGAGAAGAGGCGGG	0.652000													1	1	1	1	1	1	1.000000	32	68	0	182	0	8.722965e-01	0	10	0	182	5
BAIAP3	8938	broad.mit.edu	37	16	1394064	1394064	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1394064C>T	ENST00000324385.5	+	16	1691	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	BAIAP3_ENST00000397489.1_Silent_p.F493F|BAIAP3_ENST00000421665.2_Silent_p.F440F|BAIAP3_ENST00000562208.1_Silent_p.F453F|BAIAP3_ENST00000397488.2_Silent_p.F493F|BAIAP3_ENST00000568887.1_Silent_p.F448F|BAIAP3_ENST00000426824.3_Silent_p.F476F	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	18	37	0	64	511					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCTCTGAGTTCGGGCTGCAGC	0.657000													1	1	1	1	1	1	0.999995	18	39	0	66	1	8.210428e-01	3	6	0	66	5
CLCN7	1186	broad.mit.edu	37	16	1510831	1510831	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1510831C>T	ENST00000382745.4	-	5	1075	c.470G>A	c.(469-471)aGg>aAg	p.R157K	CLCN7_ENST00000262318.8_Missense_Mutation_p.R133K|CLCN7_ENST00000448525.1_Missense_Mutation_p.R133K	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	15	41	0	69	157						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CTTGATGACCCTGTACTTGAG	0.637000													1	1	1	1	1	1	0.999988	17	42	0	76	1	9.999947e-01	32	31	0	76	5
HS3ST6	64711	broad.mit.edu	37	16	1961750	1961750	+	Missense_Mutation	SNP	C	C	A	rs114001278	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:1961750C>A	ENST00000454677.2	-	2	986	c.921G>T	c.(919-921)aaG>aaT	p.K307N	HS3ST6_ENST00000293937.3_Missense_Mutation_p.K290N|HS3ST6_ENST00000443547.1_Missense_Mutation_p.K259N			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	35	53	0	81	259										endometrium(2)|lung(2)	4						CCTGGGCCTTCTTGAGGCAGG	0.692000													1	1	0	1	0	1	1.000000	41	55	0	83	0	1.861472e-01	1	1	0	83	3
ABCA3	21	broad.mit.edu	37	16	2354003	2354003	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:2354003G>A	ENST00000301732.5	-	12	2134	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	ABCA3_ENST00000382381.3_Silent_p.F420F	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	57	77	0	127	478					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GAGGCACGCCGAACTGCCCTG	0.607000													1	1	1	1	1	1	1.000000	60	82	0	128	1	5.587093e-01	2	2	0	128	5
SRRM2	23524	broad.mit.edu	37	16	2813312	2813312	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:2813312G>T	ENST00000301740.8	+	11	3332	c.2783G>T	c.(2782-2784)aGa>aTa	p.R928I		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	31	74	0	100	928	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.R928I(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCAAGACAAAGAAGCCATTCT	0.498000													1	1	0	1	1	1	1.000000	33	77	0	109	1	9.999977e-01	30	25	0	109	4
ZNF174	7727	broad.mit.edu	37	16	3454597	3454597	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:3454597T>C	ENST00000268655.4	+	2	1159	c.574T>C	c.(574-576)Tgg>Cgg	p.W192R	ZNF174_ENST00000571936.1_Missense_Mutation_p.W192R|ZNF174_ENST00000344823.5_Missense_Mutation_p.W192R|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000575752.1_Missense_Mutation_p.W192R|ZNF174_ENST00000572544.1_Missense_Mutation_p.W192R	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	39	82	0	140	192					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCCCCATCATTGGGAGAAATC	0.552000													1	1	1	1	1	1	1.000000	43	96	0	162	1	9.738611e-01	3	13	0	162	5
CREBBP	1387	broad.mit.edu	37	16	3789684	3789684	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:3789684C>T	ENST00000262367.5	-	25	4984	c.4175G>A	c.(4174-4176)cGa>cAa	p.R1392Q	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1354Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	17	43	0	48	1392	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			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGCTTTGGTTCGATATGGGAA	0.473000			T, N, F, Mis, O	MLL, MORF, RUNXBP2	ALL, AML, DLBCL, B-NHL		Rubinstein-Taybi syndrome						1	1	1	1	1	1	1.000000	21	46	0	54	1	8.605343e-01	8	2	0	54	5
CREBBP	1387	broad.mit.edu	37	16	3817823	3817823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:3817823C>A	ENST00000262367.5	-	16	3957	c.3148G>T	c.(3148-3150)Gaa>Taa	p.E1050*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E1012*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	35	56	0	71	1050					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			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGTTTCTTTTCATCCACTTCC	0.433000			T, N, F, Mis, O	MLL, MORF, RUNXBP2	ALL, AML, DLBCL, B-NHL		Rubinstein-Taybi syndrome						1	1	1	1	1	1	1.000000	36	56	0	73	0	9.409209e-01	0	10	0	73	5
MGRN1	0	broad.mit.edu	37	16	4707338	4707338	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4707338G>T	ENST00000399577.5	+	5	628	c.535G>T	c.(535-537)Gac>Tac	p.D179Y	MGRN1_ENST00000586183.1_Missense_Mutation_p.D179Y|MGRN1_ENST00000588994.1_Missense_Mutation_p.D179Y|MGRN1_ENST00000415496.1_Missense_Mutation_p.D179Y|MGRN1_ENST00000262370.7_Missense_Mutation_p.D179Y	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	29	40	0	67	179					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	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CTTCAAGATTGACTTCTCGGA	0.602000													1	1	1	1	1	1	1.000000	30	42	0	73	1	1	23	30	0	73	5
C16orf71	146562	broad.mit.edu	37	16	4794991	4794991	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4794991A>G	ENST00000299320.5	+	6	1500	c.1022A>G	c.(1021-1023)aAa>aGa	p.K341R	C16orf71_ENST00000590191.1_Missense_Mutation_p.K355R|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	5	70	0	79	341										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CAGGACACCAAAGAGGCAGAT	0.602000													0	1	1	0	0	1	0.939576	5	76	0	81	0	0	0	0	0	81	2
UBN1	29855	broad.mit.edu	37	16	4908061	4908061	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4908061A>C	ENST00000396658.4	+	2	1023	c.320A>C	c.(319-321)aAa>aCa	p.K107T	UBN1_ENST00000262376.6_Missense_Mutation_p.K107T|UBN1_ENST00000545171.1_Missense_Mutation_p.K107T|UBN1_ENST00000590769.1_Missense_Mutation_p.K107T	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	22	53	0	51	107	Sufficient for interaction with HIRA.				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			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CTTGCCCGAAAATTTGAAGAA	0.378000													1	1	1	1	1	1	1.000000	25	59	0	54	1	9.728484e-01	8	9	0	54	5
UBN1	29855	broad.mit.edu	37	16	4910743	4910743	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4910743G>T	ENST00000396658.4	+	6	1453	c.750G>T	c.(748-750)aaG>aaT	p.K250N	UBN1_ENST00000262376.6_Missense_Mutation_p.K250N|UBN1_ENST00000545171.1_Missense_Mutation_p.K250N|UBN1_ENST00000590769.1_Missense_Mutation_p.K250N	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	40	84	0	141	250	Lys-rich.				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			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGATGCTAAAGAAATTTCAGA	0.488000													1	1	1	1	1	1	1.000000	40	90	0	142	1	9.844664e-01	8	10	0	142	5
UBN1	29855	broad.mit.edu	37	16	4910745	4910745	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:4910745A>C	ENST00000396658.4	+	6	1455	c.752A>C	c.(751-753)aAa>aCa	p.K251T	UBN1_ENST00000262376.6_Missense_Mutation_p.K251T|UBN1_ENST00000545171.1_Missense_Mutation_p.K251T|UBN1_ENST00000585857.1_Intron|UBN1_ENST00000590769.1_Missense_Mutation_p.K251T	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	49	72	0	134	251	Lys-rich.				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			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATGCTAAAGAAATTTCAGAAA	0.483000													1	1	1	1	1	1	1.000000	52	76	0	135	1	9.991729e-01	8	12	0	135	5
C16orf89	146556	broad.mit.edu	37	16	5115773	5115773	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:5115773G>A	ENST00000315997.5	-	1	338	c.137C>T	c.(136-138)gCc>gTc	p.A46V	ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000422873.1_Missense_Mutation_p.A84V|C16orf89_ENST00000472572.3_Missense_Mutation_p.A46V|C16orf89_ENST00000474471.3_Missense_Mutation_p.A46V|C16orf89_ENST00000350219.4_Missense_Mutation_p.A84V	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	26	43	0	46	46						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GAAGACGGTGGCTCTCTCCAG	0.587000													1	1	1	1	1	1	1.000000	27	48	0	55	0	0	0	0	0	55	5
TMEM186	25880	broad.mit.edu	37	16	8890295	8890295	+	Missense_Mutation	SNP	C	C	A	rs145897590		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:8890295C>A	ENST00000333050.6	-	2	189	c.156G>T	c.(154-156)gaG>gaT	p.E52D	PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	37	71	0	129	52						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						ATTTCTCAGTCTCTGCGTTTG	0.537000													1	1	1	1	1	1	1.000000	43	75	0	142	1	9.999908e-01	16	21	0	142	5
USP7	7874	broad.mit.edu	37	16	8989562	8989562	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:8989562A>C	ENST00000344836.4	-	27	3054	c.2856T>G	c.(2854-2856)gtT>gtG	p.V952V	USP7_ENST00000535863.1_Silent_p.V853V|USP7_ENST00000381886.4_Silent_p.V936V	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	7	22	0	26	952					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			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTCTTGATGAACACCAATGA	0.363000													1	1	1	1	1	1	0.992589	8	24	0	30	1	9.999846e-01	52	43	0	30	5
GRIN2A	0	broad.mit.edu	37	16	10274037	10274037	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:10274037C>T	ENST00000396573.2	-	3	541	c.232G>A	c.(232-234)Gac>Aac	p.D78N	GRIN2A_ENST00000330684.3_Missense_Mutation_p.D78N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D78N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D78N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D78N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	46	95	0	134	78					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			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCTTGGGGTCGGTGCGGTTC	0.667000													1	1	1	1	1	1	1.000000	49	105	0	142	0	0	0	0	0	142	5
ERCC4	2072	broad.mit.edu	37	16	14029408	14029408	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:14029408C>T	ENST00000311895.7	+	8	1628	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	30	56	0	69	540					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			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AATTTGTCATCGGATGCTGCT	0.468000			Mis, N, F			skin basal cell, skin squamous cell, melanoma		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				1	1	1	1	1	1	1.000000	31	57	0	70	1	9.514509e-01	5	7	0	70	5
BFAR	51283	broad.mit.edu	37	16	14761493	14761493	+	Splice_Site	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:14761493A>G	ENST00000261658.2	+	8	1439	c.1160_splice	c.e8-1	p.T388_splice	BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000563971.1_Splice_Site_p.T263_splice|BFAR_ENST00000426842.2_Splice_Site_p.T260_splice	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	28	65	0	94	388					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						TTGTTTCAGGACCGTGCCTCA	0.557000													1	1	1	1	1	1	1.000000	32	68	0	107	1	1	44	61	0	107	5
KIAA0430	9665	broad.mit.edu	37	16	15710987	15710987	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:15710987A>G	ENST00000396368.3	-	15	3205	c.2999T>C	c.(2998-3000)gTg>gCg	p.V1000A	KIAA0430_ENST00000551742.1_Missense_Mutation_p.V1000A|KIAA0430_ENST00000540441.2_Missense_Mutation_p.V835A|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000548025.1_Missense_Mutation_p.V997A|KIAA0430_ENST00000602337.1_Missense_Mutation_p.V997A	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	12	69	0	74	999						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGAAAGAATCACAAAAGGAAT	0.453000													1	1	1	1	1	1	0.999679	13	72	0	78	1	3.750164e-01	4	4	0	78	5
MYH11	4629	broad.mit.edu	37	16	15833968	15833968	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:15833968C>A	ENST00000338282.6	-	23	3043	c.2937G>T	c.(2935-2937)aaG>aaT	p.K979N	MYH11_ENST00000300036.5_Missense_Mutation_p.K979N|MYH11_ENST00000576790.1_Missense_Mutation_p.K979N|MYH11_ENST00000452625.2_Missense_Mutation_p.K986N|MYH11_ENST00000396324.3_Missense_Mutation_p.K986N	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	37	75	0	112	979					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	p.K979N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GTTTCTTGATCTTGGCCTCAG	0.507000			T	CBFB	AML								1	1	1	1	1	1	1.000000	42	84	0	122	0	9.985268e-01	0	24	0	122	5
ABCC1	4363	broad.mit.edu	37	16	16108405	16108405	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:16108405A>G	ENST00000399408.2	+	4	584	c.409A>G	c.(409-411)Atc>Gtc	p.I137V	ABCC1_ENST00000346370.5_Missense_Mutation_p.I137V|ABCC1_ENST00000349029.5_Missense_Mutation_p.I137V|ABCC1_ENST00000399410.3_Missense_Mutation_p.I137V|ABCC1_ENST00000351154.5_Missense_Mutation_p.I137V|ABCC1_ENST00000345148.5_Missense_Mutation_p.I137V			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	15	35	0	78	137					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			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GTCTTCAGGGATCATGCTCAC	0.473000													1	1	1	1	1	1	0.999978	16	37	0	82	1	7.986233e-01	6	3	0	82	5
XYLT1	64131	broad.mit.edu	37	16	17202841	17202841	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:17202841C>T	ENST00000261381.6	-	12	2675	c.2591G>A	c.(2590-2592)cGc>cAc	p.R864H		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	20	42	0	104	864					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTAGGCATTGCGGAGGGGCCC	0.567000													1	1	1	1	1	1	1.000000	23	48	0	111	0	0	0	0	0	111	5
XYLT1	64131	broad.mit.edu	37	16	17353254	17353254	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:17353254G>A	ENST00000261381.6	-	3	588	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	45	69	0	92	168					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCTGGGTGCGAAGTTGCTGT	0.498000													1	1	1	1	1	1	1.000000	48	73	0	96	0	0	0	0	0	96	5
SMG1	23049	broad.mit.edu	37	16	18823418	18823418	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:18823418C>T	ENST00000446231.2	-	61	11065	c.10653G>A	c.(10651-10653)caG>caA	p.Q3551Q	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Silent_p.Q3552Q			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	16	39	0	55	3551					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			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGACATCAGGCTGAGTCTTCT	0.483000													1	1	1	1	0	1	0.999995	18	44	0	57	1	9.833600e-01	12	8	0	57	4
CCP110	9738	broad.mit.edu	37	16	19547870	19547870	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:19547870A>G	ENST00000396212.2	+	5	1315	c.879A>G	c.(877-879)ccA>ccG	p.P293P	CCP110_ENST00000381396.5_Silent_p.P293P|CCP110_ENST00000396208.2_Silent_p.P293P	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	7	61	0	44	293					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CTGACAAACCAAGCCTTAATA	0.413000													1	1	1	1	0	1	0.982403	7	66	0	48	0	1.719642e-01	1	5	0	48	4
C16orf62	57020	broad.mit.edu	37	16	19656250	19656250	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:19656250G>T	ENST00000438132.3	+	23	2223	c.2175G>T	c.(2173-2175)ttG>ttT	p.L725F	C16orf62_ENST00000251143.5_Missense_Mutation_p.L636F|C16orf62_ENST00000542263.1_Missense_Mutation_p.L658F|C16orf62_ENST00000543152.1_Missense_Mutation_p.L385F|C16orf62_ENST00000448695.1_Missense_Mutation_p.L486F|C16orf62_ENST00000417362.2_Missense_Mutation_p.L569F	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	16	30	0	42	636						integral to membrane		p.L636F(1)|p.L725F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGTCATATTTGATTAATGGAT	0.318000													1	1	1	1	1	1	0.999980	16	33	0	50	1	9.999991e-01	28	40	0	50	5
C16orf62	57020	broad.mit.edu	37	16	19702791	19702791	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:19702791G>A	ENST00000438132.3	+	29	2959	c.2911G>A	c.(2911-2913)Gag>Aag	p.E971K	C16orf62_ENST00000251143.5_Missense_Mutation_p.E882K|C16orf62_ENST00000542263.1_Missense_Mutation_p.E878K|C16orf62_ENST00000543152.1_Missense_Mutation_p.E631K|C16orf62_ENST00000417362.2_Missense_Mutation_p.E789K|C16orf62_ENST00000448695.1_Missense_Mutation_p.E732K	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	9	15	0	37	882						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGCCAAGGACGAGGTGGGTGC	0.537000													1	1	1	1	1	1	0.997155	9	15	0	42	1	1	63	63	0	42	5
GPR139	124274	broad.mit.edu	37	16	20043162	20043162	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20043162A>G	ENST00000570682.1	-	2	1257	c.957T>C	c.(955-957)ttT>ttC	p.F319F		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	55	87	0	157	319						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTGTTATGGAAAAGTTATGAT	0.483000													1	1	1	1	1	1	1.000000	61	90	0	166	0	0	0	0	0	166	5
ACSM2A	123876	broad.mit.edu	37	16	20491925	20491925	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20491925C>T	ENST00000573854.1	+	11	1426	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R438*|ACSM2A_ENST00000536134.1_Nonsense_Mutation_p.R210*|ACSM2A_ENST00000417235.2_Nonsense_Mutation_p.R359*	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	54	90	0	172	438					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCCAACATTCGAGGAGACTT	0.512000													1	0	1	1	0	1	1.000000	60	98	0	168	0	0	0	0	0	168	3
ACSM2A	123876	broad.mit.edu	37	16	20497922	20497922	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20497922G>T	ENST00000573854.1	+	14	1770	c.1656G>T	c.(1654-1656)aaG>aaT	p.K552N	ACSM2A_ENST00000396104.2_Missense_Mutation_p.K552N|ACSM2A_ENST00000219054.6_Missense_Mutation_p.K552N|ACSM2A_ENST00000575690.1_Missense_Mutation_p.K552N|ACSM2A_ENST00000536134.1_Missense_Mutation_p.K324N|ACSM2A_ENST00000417235.2_Missense_Mutation_p.K473N	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	18	159	0	181	552					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ACCTGCCCAAGACTGTCACAG	0.468000													1	1	1	1	1	1	0.999998	21	180	0	198	0	0	0	0	0	198	5
ACSM1	116285	broad.mit.edu	37	16	20682930	20682930	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20682930G>A	ENST00000307493.4	-	4	742	c.675C>T	c.(673-675)ttC>ttT	p.F225F	ACSM1_ENST00000520010.1_Silent_p.F225F|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	21	56	0	81	225					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCCACTGGTGAAGAAGATGA	0.502000													1	1	1	1	1	1	1.000000	23	58	0	85	0	0	1	0	0	85	5
DNAH3	55567	broad.mit.edu	37	16	20944541	20944541	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20944541T>C	ENST00000261383.3	-	62	12285	c.12286A>G	c.(12286-12288)Aca>Gca	p.T4096A	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	45	85	0	194	4096					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCATGTCTGTTGGAAGCTCA	0.498000													1	1	1	1	1	1	1.000000	51	92	0	226	0	0	0	0	0	226	5
DNAH3	55567	broad.mit.edu	37	16	20944632	20944632	+	Nonsense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:20944632A>C	ENST00000261383.3	-	62	12194	c.12195T>G	c.(12193-12195)taT>taG	p.Y4065*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	12	123	0	146	4065					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTGGACACACATAGATGTCCT	0.512000													1	1	1	1	0	1	0.999249	12	132	0	160	0	0	0	0	0	160	4
DNAH3	55567	broad.mit.edu	37	16	21011661	21011661	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:21011661A>T	ENST00000261383.3	-	43	6305	c.6306T>A	c.(6304-6306)aaT>aaA	p.N2102K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	27	51	0	79	2102	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGCAGAGAAATTGATGCAGT	0.517000													1	1	1	1	1	1	1.000000	27	56	0	84	0	0	0	0	0	84	5
DNAH3	55567	broad.mit.edu	37	16	21145624	21145624	+	Silent	SNP	C	C	T	rs138812210		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:21145624C>T	ENST00000261383.3	-	7	1037	c.1038G>A	c.(1036-1038)acG>acA	p.T346T	DNAH3_ENST00000415178.1_Silent_p.T346T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	45	86	0	116	346	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGGGTTCACCGTGTGCAGAT	0.527000													1	1	1	1	1	1	1.000000	48	90	0	128	0	0	0	1	0	128	5
ZP2	7783	broad.mit.edu	37	16	21218215	21218215	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:21218215C>A	ENST00000574002.1	-	6	909	c.427G>T	c.(427-429)Gta>Tta	p.V143L	ZP2_ENST00000219593.4_Missense_Mutation_p.V143L|ZP2_ENST00000574091.1_Missense_Mutation_p.V143L			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	36	82	0	140	143					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			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCTCTTCTACTTGCATAGCT	0.498000													1	1	1	1	1	1	1.000000	38	89	0	150	0	0	0	0	0	150	5
COG7	91949	broad.mit.edu	37	16	23415025	23415025	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23415025G>A	ENST00000307149.5	-	13	1978	c.1793C>T	c.(1792-1794)tCg>tTg	p.S598L		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	23	37	0	65	598					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			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GTCCATCTTCGAAATAAGCAA	0.537000													1	1	1	1	1	1	1.000000	27	43	0	73	1	9.999859e-01	19	17	0	73	5
UBFD1	56061	broad.mit.edu	37	16	23573949	23573949	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23573949C>T	ENST00000395878.3	+	5	1015	c.634C>T	c.(634-636)Cgc>Tgc	p.R212C	UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000219638.4_Missense_Mutation_p.R436C|UBFD1_ENST00000567212.1_Missense_Mutation_p.R203C	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	16	23	0	41	212										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		CCTTCAGGAGCGCCTGCCAAC	0.517000													1	1	1	1	1	1	0.999993	17	27	0	45	1	9.999999e-01	30	34	0	45	5
DCTN5	84516	broad.mit.edu	37	16	23672543	23672543	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23672543T>G	ENST00000300087.2	+	4	440	c.289T>G	c.(289-291)Tgt>Ggt	p.C97G	DCTN5_ENST00000563998.1_Missense_Mutation_p.C97G|DCTN5_ENST00000568589.1_Missense_Mutation_p.C97G	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	11	35	0	57	97						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		TGAGGAAGATTGTGTGGTCAA	0.413000													1	1	1	1	1	1	0.999511	12	38	0	61	1	9.989115e-01	17	27	0	61	5
PRKCB	5579	broad.mit.edu	37	16	23848713	23848713	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:23848713G>A	ENST00000303531.7	+	2	343	c.191G>A	c.(190-192)gGa>gAa	p.G64E	PRKCB_ENST00000321728.7_Missense_Mutation_p.G64E|PRKCB_ENST00000498058.1_Intron	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	59	113	0	202	64					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			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GGGAAGCAGGGATTCCAGTGC	0.547000													1	1	1	1	1	1	1.000000	60	121	0	223	0	0	0	1	0	223	5
CACNG3	10368	broad.mit.edu	37	16	24358084	24358084	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24358084G>A	ENST00000005284.3	+	2	1443	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	29	39	0	80	81					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			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CAAGAAAATCGATCACTTCCC	0.582000													1	1	1	1	1	1	1.000000	31	42	0	97	0	0	0	0	0	97	5
RBBP6	5930	broad.mit.edu	37	16	24560270	24560270	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24560270C>T	ENST00000319715.4	+	3	703	c.271C>T	c.(271-273)Cga>Tga	p.R91*	RBBP6_ENST00000452655.2_Nonsense_Mutation_p.R91*|RBBP6_ENST00000348022.2_Nonsense_Mutation_p.R91*|RBBP6_ENST00000381039.3_Nonsense_Mutation_p.R91*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	6	7	0	8	91					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			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TTTTAGAAGTCGAACTGAACC	0.274000													0	0	1	1	0	1	0.995588	8	8	0	9	1	9.998554e-01	6	24	0	9	2
RBBP6	5930	broad.mit.edu	37	16	24582569	24582569	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24582569C>A	ENST00000319715.4	+	18	4614	c.4182C>A	c.(4180-4182)aaC>aaA	p.N1394K	RBBP6_ENST00000348022.2_Missense_Mutation_p.N1360K|RBBP6_ENST00000381039.3_Missense_Mutation_p.N554K	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	21	25	0	47	1394					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			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTCAAAAAACTCTGCATCTA	0.398000													1	1	1	1	1	1	1.000000	24	26	0	49	1	1	14	36	0	49	5
TNRC6A	27327	broad.mit.edu	37	16	24834300	24834300	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:24834300G>T	ENST00000395799.3	+	24	5608	c.5479G>T	c.(5479-5481)Gaa>Taa	p.E1827*	TNRC6A_ENST00000432286.2_Nonsense_Mutation_p.E305*|TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.E1778*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	52	112	0	183	1827	RRM.|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			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAGTTCAAAAGAAGAGGTAGT	0.542000													1	1	1	1	1	1	1.000000	54	119	0	196	1	9.999997e-01	21	35	0	196	5
GTF3C1	2975	broad.mit.edu	37	16	27481617	27481617	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:27481617G>T	ENST00000356183.4	-	31	4641	c.4626C>A	c.(4624-4626)ttC>ttA	p.F1542L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.F1542L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	61	138	0	183	1542						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTTTGAAAGAGAAACGATCAG	0.522000													1	1	1	1	1	1	1.000000	66	151	0	196	1	1	62	59	0	196	5
CD19	930	broad.mit.edu	37	16	28948597	28948597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:28948597G>T	ENST00000538922.1	+	9	1266	c.1204G>T	c.(1204-1206)Gaa>Taa	p.E402*	CD19_ENST00000324662.3_Nonsense_Mutation_p.E402*|CD19_ENST00000567541.1_Nonsense_Mutation_p.E402*	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	3	18	0	21	402					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						CCCAGGCCCAGAAGAAGAGGA	0.622000													0	0	1	1	1	1	0.896421	4	19	0	21	0	1.914530e-01	0	4	0	21	3
TAOK2	9344	broad.mit.edu	37	16	30002147	30002147	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30002147C>T	ENST00000279394.3	+	18	2891	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	50	79	0	148	709	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			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCAGGCCCTTCGGCAGCAGCT	0.602000													1	1	1	1	1	1	1.000000	54	85	0	167	1	1	15	39	0	167	5
FAM57B	83723	broad.mit.edu	37	16	30037010	30037010	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30037010C>T	ENST00000564806.1	-	3	472	c.427G>A	c.(427-429)Gag>Aag	p.E143K	FAM57B_ENST00000380495.4_Intron|FAM57B_ENST00000279389.4_Intron			Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	43	125	0	179	0	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCTGTGACCTCCCCATTGGGC	0.607000													1	0	1	1	1	1	1.000000	45	131	0	189	0	0	0	0	0	189	4
ITGAL	0	broad.mit.edu	37	16	30507506	30507506	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30507506T>G	ENST00000356798.6	+	14	1772	c.1592T>G	c.(1591-1593)aTc>aGc	p.I531S	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.I448S	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	23	125	0	186	531					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			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CTGACAGACATCAACGGCGAT	0.617000													1	1	1	1	1	1	1.000000	24	141	0	204	0	0	0	0	0	204	5
FBRS	64319	broad.mit.edu	37	16	30680679	30680679	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30680679G>T	ENST00000356166.6	+	18	3744	c.2656G>T	c.(2656-2658)Gca>Tca	p.A886S	FBRS_ENST00000568722.1_Missense_Mutation_p.A278S|FBRS_ENST00000395073.2_Missense_Mutation_p.A278S|FBRS_ENST00000287468.5_Missense_Mutation_p.A366S			Q9HAH7	FBRS_HUMAN	fibrosin	19	43	0	63	366										ovary(1)	1			Colorectal(24;0.103)			AACCTGGTTGGCAGCACCCCC	0.692000													1	1	1	1	0	1	0.999997	19	43	0	63	1	9.999943e-01	24	33	0	63	4
ZNF629	23361	broad.mit.edu	37	16	30793260	30793260	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30793260T>C	ENST00000262525.4	-	3	2596	c.2389A>G	c.(2389-2391)Aat>Gat	p.N797D		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	10	135	0	156	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TCCTCGGGATTGGGGGGTTTT	0.657000													1	1	1	1	0	1	0.997161	10	155	0	184	0	5.220675e-01	0	27	0	184	4
FBXL19	54620	broad.mit.edu	37	16	30939819	30939819	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30939819A>C	ENST00000338343.4	+	6	1046	c.659A>C	c.(658-660)aAg>aCg	p.K220T	FBXL19_ENST00000380310.2_Missense_Mutation_p.K240T|FBXL19_ENST00000562319.1_Missense_Mutation_p.K220T|FBXL19_ENST00000565690.1_Splice_Site_p.K147_splice|FBXL19_ENST00000471231.2_5'UTR			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	12	15	0	31	240	Pro-rich.						DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CACCTGAAGAAGGTGGGTGGA	0.627000													1	1	1	1	0	1	0.999743	12	16	0	37	1	1	42	55	0	37	4
SETD1A	9739	broad.mit.edu	37	16	30970433	30970433	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:30970433G>A	ENST00000262519.8	+	3	858	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	61	124	0	156	58					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			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TATACCAGTCGAAGACCTCCA	0.522000													1	1	1	1	1	1	1.000000	74	136	0	180	1	8.783932e-01	5	4	0	180	5
ZNF646	9726	broad.mit.edu	37	16	31087953	31087953	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31087953G>A	ENST00000394979.2	+	1	731	c.308G>A	c.(307-309)cGc>cAc	p.R103H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R103H			O15015	ZN646_HUMAN	zinc finger protein 646	30	32	1	52	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAGGGCCGCCGCAGGCACAGG	0.617000													1	0	1	1	1	1	1.000000	36	34	1	54	1	9.957204e-01	4	8	1	54	4
BCKDK	10295	broad.mit.edu	37	16	31122015	31122015	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31122015T>G	ENST00000394951.1	+	9	1272	c.649T>G	c.(649-651)Ttt>Gtt	p.F217V	BCKDK_ENST00000394950.3_Missense_Mutation_p.F217V|BCKDK_ENST00000287507.3_Missense_Mutation_p.F217V|BCKDK_ENST00000219794.6_Missense_Mutation_p.F217V			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	7	135	0	157	217	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CCAGCCTGACTTTGTCGGCAT	0.577000													1	0	1	1	0	1	0.989941	8	152	0	179	1	9.957724e-01	15	179	0	179	3
ITGAM	3684	broad.mit.edu	37	16	31341654	31341654	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31341654G>T	ENST00000544665.3	+	27	3160	c.3089G>T	c.(3088-3090)aGa>aTa	p.R1030I	ITGAM_ENST00000287497.8_Missense_Mutation_p.R1029I	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	22	55	0	69	1029					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GTCTGCCAGAGAATCCAGTGT	0.557000													1	1	1	1	1	1	1.000000	22	62	0	76	0	8.544035e-01	0	12	0	76	5
SLC5A2	6524	broad.mit.edu	37	16	31500065	31500065	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31500065G>A	ENST00000330498.3	+	10	1271	c.1252G>A	c.(1252-1254)Ggc>Agc	p.G418S		NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	12	26	0	28	418					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCCACGCGCCGGCGACCGCGA	0.711000													1	1	1	1	0	1	0.999594	12	28	0	28	0	0	0	0	0	28	4
ZNF267	10308	broad.mit.edu	37	16	31926769	31926769	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:31926769G>T	ENST00000300870.10	+	4	1408	c.1199G>T	c.(1198-1200)aGa>aTa	p.R400I	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	16	41	0	38	400					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTGCATCAGAGAATTCACACT	0.368000													1	1	1	1	0	1	0.999975	16	42	0	38	1	9.175758e-01	10	4	0	38	4
MYLK3	91807	broad.mit.edu	37	16	46746599	46746599	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:46746599G>T	ENST00000394809.4	-	10	2190	c.2075C>A	c.(2074-2076)cCc>cAc	p.P692H	MYLK3_ENST00000536476.1_Missense_Mutation_p.P351H	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	24	69	0	88	692	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			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CATGTCTGTGGGGAATGAGAC	0.527000													1	1	1	1	1	1	1.000000	25	74	0	89	0	0	0	0	0	89	5
ABCC12	94160	broad.mit.edu	37	16	48121866	48121866	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:48121866C>T	ENST00000311303.3	-	25	3951	c.3606G>A	c.(3604-3606)caG>caA	p.Q1202Q	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	10	41	0	54	1202	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GGACAGGATCCTGTGGGATCA	0.438000													1	1	1	1	1	1	0.998905	11	45	0	56	0	0	0	0	0	56	5
ABCC12	94160	broad.mit.edu	37	16	48145699	48145699	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:48145699T>C	ENST00000311303.3	-	14	2457	c.2112A>G	c.(2110-2112)ggA>ggG	p.G704G	ABCC12_ENST00000448542.1_Silent_p.G704G|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	23	59	0	84	704						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGAACTGCAATCCTCGCAGGT	0.483000													1	1	1	1	1	1	1.000000	24	62	0	94	0	0	0	0	0	94	5
N4BP1	9683	broad.mit.edu	37	16	48594765	48594765	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:48594765G>A	ENST00000262384.3	-	2	2025	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	41	72	0	100	597					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				AGAGTATCTCGAAACCTTTGA	0.428000													1	1	1	1	1	1	1.000000	42	76	0	103	1	9.957617e-01	3	16	0	103	5
ADCY7	113	broad.mit.edu	37	16	50326626	50326626	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:50326626A>C	ENST00000394697.2	+	5	917	c.577A>C	c.(577-579)Aca>Cca	p.T193P	ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000538642.1_Missense_Mutation_p.T193P|ADCY7_ENST00000566433.2_Missense_Mutation_p.T193P|ADCY7_ENST00000254235.3_Missense_Mutation_p.T193P|ADCY7_ENST00000537579.1_Missense_Mutation_p.T193P			P51828	ADCY7_HUMAN	adenylate cyclase 7	23	55	0	116	193					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			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGGGAACCTGACAGGCGCCTT	0.597000													1	1	1	1	1	1	1.000000	25	59	0	124	0	3.533060e-01	0	4	0	124	5
BRD7	29117	broad.mit.edu	37	16	50384060	50384060	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:50384060G>T	ENST00000394688.3	-	5	624	c.465C>A	c.(463-465)ttC>ttA	p.F155L	BRD7_ENST00000401491.3_5'UTR|BRD7_ENST00000394689.2_Missense_Mutation_p.F155L			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	6	29	0	33	155	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			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GAAATGAAAAGAAAGCACTTG	0.333000													0	1	1	1	1	1	0.969300	6	32	0	32	1	9.863125e-01	22	25	0	32	4
NKD1	85407	broad.mit.edu	37	16	50667564	50667564	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:50667564C>T	ENST00000268459.3	+	10	1509	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	5	15	0	20	429					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TGTCCTGGGGCGGGAGCACCT	0.682000													1	0	1	1	0	1	0.945659	5	17	0	20	1	9.762856e-01	15	14	0	20	3
AKTIP	64400	broad.mit.edu	37	16	53528122	53528122	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:53528122A>C	ENST00000300245.4	-	9	855	c.638T>G	c.(637-639)gTt>gGt	p.V213G	AKTIP_ENST00000570004.1_Missense_Mutation_p.V213G|AKTIP_ENST00000394657.6_Missense_Mutation_p.V213G			Q9H8T0	AKTIP_HUMAN	AKT interacting protein	12	38	0	44	213					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				ACTGTCAACAACTTTACTTTT	0.348000													1	1	1	1	1	1	0.999764	13	39	0	48	1	7.003187e-01	2	7	0	48	5
RPGRIP1L	23322	broad.mit.edu	37	16	53682877	53682877	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:53682877G>A	ENST00000262135.4	-	16	2396	c.2304_splice	c.e16+1	p.S768_splice	RPGRIP1L_ENST00000563746.1_Splice_Site_p.S768_splice|RPGRIP1L_ENST00000379925.3_Splice_Site_p.S768_splice|RPGRIP1L_ENST00000564374.1_Splice_Site_p.S768_splice	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	11	61	0	68	768					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGAGCTTACCGACTGCATATG	0.353000													1	1	1	1	1	1	0.998735	11	69	0	76	1	5.284063e-01	2	10	0	76	5
IRX3	79191	broad.mit.edu	37	16	54319319	54319319	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:54319319G>A	ENST00000329734.3	-	2	1186	c.474C>T	c.(472-474)ggC>ggT	p.G158G		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	40	101	0	135	158					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						TGATCTTCTCGCCCTTGGTGG	0.622000													1	1	1	1	1	1	1.000000	41	106	0	129	0	0	0	0	0	129	5
SLC6A2	6530	broad.mit.edu	37	16	55733485	55733485	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:55733485C>T	ENST00000379906.2	+	11	1764	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	SLC6A2_ENST00000561820.1_Silent_p.N503N|SLC6A2_ENST00000568943.1_Silent_p.N503N|SLC6A2_ENST00000567238.1_Silent_p.N398N|SLC6A2_ENST00000414754.3_Silent_p.N503N|SLC6A2_ENST00000219833.8_Silent_p.N503N|SLC6A2_ENST00000566163.1_Silent_p.N458N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	22	45	0	73	503					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				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)	GGTTCAGCAACGACATCCAGC	0.597000													1	1	1	1	1	1	1.000000	23	49	0	90	0	0	0	0	0	90	5
GNAO1	2775	broad.mit.edu	37	16	56377721	56377721	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:56377721C>T	ENST00000262494.7	+	8	1184	c.924C>T	c.(922-924)taC>taT	p.Y308Y	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	13	26	0	52	308					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			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AGGCCCAGTACGAGAGCAAGA	0.577000													1	1	1	1	1	1	0.999819	13	27	0	58	0	0	0	0	0	58	5
CETP	1071	broad.mit.edu	37	16	57009049	57009049	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57009049G>A	ENST00000200676.3	+	10	1097	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	CETP_ENST00000566128.1_Missense_Mutation_p.E258K|CETP_ENST00000379780.2_Missense_Mutation_p.E263K	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	24	32	0	45	323					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			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CACCAACCAGGAAATCTTCCA	0.527000													1	1	1	1	1	1	1.000000	27	37	0	50	0	0	0	0	0	50	5
NLRC5	84166	broad.mit.edu	37	16	57113472	57113472	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57113472A>C	ENST00000262510.6	+	46	5477	c.5252A>C	c.(5251-5253)aAg>aCg	p.K1751T	NLRC5_ENST00000308149.7_Missense_Mutation_p.K1722T|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.K1722T	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	48	103	0	141	1751					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			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTTTCCTGTAAGATTGACAAC	0.577000													1	1	1	1	1	1	1.000000	54	113	0	160	1	9.997954e-01	20	9	0	160	5
CPNE2	221184	broad.mit.edu	37	16	57155661	57155661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57155661C>T	ENST00000535318.2	+	10	1217	c.856C>T	c.(856-858)Cga>Tga	p.R286*	CPNE2_ENST00000290776.8_Nonsense_Mutation_p.R286*|CPNE2_ENST00000537605.1_Nonsense_Mutation_p.R184*|CPNE2_ENST00000565874.1_Nonsense_Mutation_p.R286*			Q96FN4	CPNE2_HUMAN	copine II	16	119	0	114	286										central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CATCATCCTGCGATCCTGCAA	0.547000													1	1	1	1	1	1	0.999951	16	124	0	120	1	9.997398e-01	2	110	0	120	5
CIAPIN1	57019	broad.mit.edu	37	16	57466419	57466419	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57466419C>T	ENST00000394391.4	-	6	851	c.610G>A	c.(610-612)Gat>Aat	p.D204N	CIAPIN1_ENST00000569979.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.D191N|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.D204N|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.D177N	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	28	60	0	99	204					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCCTCCATATCGTTGGCTGAG	0.488000													1	1	1	1	1	1	1.000000	32	68	0	116	1	9.692232e-01	5	10	0	116	5
CNGB1	1258	broad.mit.edu	37	16	57950065	57950065	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:57950065G>A	ENST00000564448.1	-	22	2227	c.2167C>T	c.(2167-2169)Cga>Tga	p.R723*	CNGB1_ENST00000251102.8_Nonsense_Mutation_p.R729*			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	39	64	0	143	729					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TAGTTATTTCGCATGTCCTTT	0.512000													1	1	1	1	1	1	1.000000	42	69	0	156	0	0	0	0	0	156	5
ZNF319	0	broad.mit.edu	37	16	58031930	58031930	+	Silent	SNP	C	C	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:58031930C>G	ENST00000299237.2	-	2	862	c.240G>C	c.(238-240)gtG>gtC	p.V80V		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	24	41	0	92	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGTGACCACACACGCCACATT	0.642000													1	1	1	1	1	1	1.000000	28	46	0	102	0	3.278301e-01	0	3	0	102	5
CNOT1	23019	broad.mit.edu	37	16	58589167	58589167	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:58589167C>A	ENST00000317147.5	-	21	3211	c.2879G>T	c.(2878-2880)aGa>aTa	p.R960I	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.R960I|CNOT1_ENST00000569240.1_Missense_Mutation_p.R955I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	34	41	0	91	960					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GTTTTTAAATCTATCTAGTGC	0.468000													1	1	1	1	1	1	1.000000	36	43	0	99	1	9.999996e-01	21	16	0	99	5
CDH8	1006	broad.mit.edu	37	16	61858924	61858924	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:61858924A>G	ENST00000577390.1	-	5	1781	c.827T>C	c.(826-828)tTt>tCt	p.F276S	CDH8_ENST00000299345.6_Missense_Mutation_p.F276S|CDH8_ENST00000584337.1_Missense_Mutation_p.F276S|CDH8_ENST00000577730.1_Missense_Mutation_p.F276S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	14	28	0	51	276	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		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)		ACTCTGTGCAAATTTTGGAGG	0.373000													1	1	1	1	1	1	0.999913	14	29	0	56	0	0	0	0	0	56	5
CDH11	1009	broad.mit.edu	37	16	65016055	65016055	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:65016055G>T	ENST00000394156.3	-	8	1602	c.1149C>A	c.(1147-1149)ttC>ttA	p.F383L	CDH11_ENST00000268603.4_Missense_Mutation_p.F383L|CDH11_ENST00000566827.1_Missense_Mutation_p.F257L			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	41	53	0	121	383	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTGGGGCCAAGAACATAGGGG	0.532000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			1	1	1	1	1	1	1.000000	44	56	0	138	0	9.998308e-01	0	22	0	138	5
TK2	7084	broad.mit.edu	37	16	66565347	66565347	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:66565347C>T	ENST00000299697.7	-	5	661	c.437G>A	c.(436-438)cGc>cAc	p.R146H	TK2_ENST00000545043.2_Missense_Mutation_p.R79H|TK2_ENST00000525974.1_Missense_Mutation_p.R7H|TK2_ENST00000417693.3_Missense_Mutation_p.R86H|TK2_ENST00000527284.1_Missense_Mutation_p.R73H|TK2_ENST00000564917.1_Missense_Mutation_p.R104H|TK2_ENST00000527800.1_Missense_Mutation_p.R7H|TK2_ENST00000544898.1_Missense_Mutation_p.R55H|TK2_ENST00000451102.2_Missense_Mutation_p.R104H|TK2_ENST00000563369.2_Missense_Mutation_p.R7H	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	10	52	0	66	104					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		AAGACCCCAGCGAGAGGCATC	0.522000													1	1	1	1	1	1	0.997569	10	61	0	78	0	8.395453e-01	0	23	0	78	5
C16orf70	80262	broad.mit.edu	37	16	67168075	67168075	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67168075A>G	ENST00000219139.3	+	7	643	c.455A>G	c.(454-456)aAt>aGt	p.N152S	C16orf70_ENST00000569600.1_Missense_Mutation_p.N152S|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	27	48	0	74	152										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TTGCAGCCCAATTTTGCCCAT	0.493000													1	1	1	1	1	1	1.000000	29	49	0	82	1	9.963698e-01	9	10	0	82	5
TMEM208	29100	broad.mit.edu	37	16	67262716	67262716	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67262716A>G	ENST00000563953.1	+	5	532	c.106A>G	c.(106-108)Atc>Gtc	p.I36V	TMEM208_ENST00000565201.1_Missense_Mutation_p.I106V|TMEM208_ENST00000304800.9_Missense_Mutation_p.I106V|TMEM208_ENST00000563426.1_3'UTR			Q9BTX3	TM208_HUMAN	transmembrane protein 208	35	68	0	86	106						integral to membrane				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TAAGGATGTGATCCTACTGAC	0.527000													1	1	1	1	1	1	1.000000	37	73	0	95	1	1	111	153	0	95	5
KCTD19	146212	broad.mit.edu	37	16	67329205	67329205	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67329205A>G	ENST00000304372.5	-	9	1407	c.1352T>C	c.(1351-1353)tTc>tCc	p.F451S		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	19	23	0	39	451	BTB 2.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AAGTCTCAGGAAGTTGAGAAT	0.478000													1	1	1	1	1	1	1.000000	20	24	0	43	0	0	0	0	0	43	5
KCTD19	146212	broad.mit.edu	37	16	67335823	67335823	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67335823T>C	ENST00000304372.5	-	5	701	c.646A>G	c.(646-648)Aat>Gat	p.N216D	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	26	76	0	75	216						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CGAAGAAAATTCACTTGAAAA	0.403000													1	1	1	1	1	1	1.000000	28	84	0	79	0	0	0	0	0	79	5
KCTD19	146212	broad.mit.edu	37	16	67338374	67338374	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67338374T>G	ENST00000304372.5	-	3	456	c.401A>C	c.(400-402)aAg>aCg	p.K134T	KCTD19_ENST00000562860.1_Intron	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	38	70	0	82	134						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCTAATACACTTCCATGTACG	0.488000													1	1	1	1	1	1	1.000000	39	74	0	92	0	0	0	0	0	92	5
CTCF	10664	broad.mit.edu	37	16	67645132	67645132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67645132G>T	ENST00000264010.4	+	3	841	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	28	66	0	113	133					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			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		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)		TTCAGTAGAAGAACTTCAGGG	0.458000													1	1	1	1	1	1	1.000000	33	70	0	127	1	9.998807e-01	6	29	0	127	5
RLTPR	146206	broad.mit.edu	37	16	67681792	67681792	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67681792C>T	ENST00000334583.6	+	13	1330	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	RLTPR_ENST00000545661.1_Silent_p.F334F	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	9	18	0	26	334								p.F334F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		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)		ATGCCGCCTTCGACTCCACCC	0.672000													1	1	1	1	0	1	0.998417	10	21	0	29	0	2.655462e-01	1	2	0	29	4
NUTF2	10204	broad.mit.edu	37	16	67899124	67899124	+	Missense_Mutation	SNP	G	G	A	rs146730920		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67899124G>A	ENST00000219169.4	+	2	374	c.91G>A	c.(91-93)Gca>Aca	p.A31T	NUTF2_ENST00000569436.2_Missense_Mutation_p.A31T|NUTF2_ENST00000568396.2_Missense_Mutation_p.A31T	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	14	28	0	45	31	NTF2.				protein transport	cytosol|nuclear pore	protein binding|transporter activity	p.A31P(1)		kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		CCAACTAGGCGCAATTTACGT	0.468000													1	1	1	1	1	1	0.999958	15	31	0	47	1	1	116	140	0	47	5
SLC12A4	6560	broad.mit.edu	37	16	67991677	67991677	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:67991677A>G	ENST00000422611.2	-	4	557	c.518T>C	c.(517-519)aTg>aCg	p.M173T	SLC12A4_ENST00000576616.1_Missense_Mutation_p.M171T|SLC12A4_ENST00000537830.2_Missense_Mutation_p.M165T|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000338335.3_Missense_Mutation_p.M171T|SLC12A4_ENST00000541864.2_Missense_Mutation_p.M140T|SLC12A4_ENST00000572037.1_Missense_Mutation_p.M123T|SLC12A4_ENST00000316341.3_Missense_Mutation_p.M171T	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	18	29	0	61	171					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		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)	GATGGCACTCATGGAGATGGC	0.647000													1	1	1	1	1	1	0.999999	20	31	0	70	1	9.999858e-01	14	23	0	70	5
ZFP90	146198	broad.mit.edu	37	16	68598587	68598587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:68598587C>T	ENST00000570495.1	+	5	2189	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Nonsense_Mutation_p.R633*|ZFP90_ENST00000398253.2_Nonsense_Mutation_p.R633*			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	28	34	0	48	633					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R633R(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AATTCATACTCGAAATAAACT	0.378000													1	1	1	1	0	1	1.000000	28	37	0	49	1	9.948465e-01	6	9	0	49	4
TANGO6	79613	broad.mit.edu	37	16	68914501	68914501	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:68914501G>T	ENST00000261778.1	+	7	1357	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)	15	31	0	86																		GACAGAAGAAGAACTTAGTAG	0.303000													1	1	1	1	1	1	0.999990	17	37	0	102	0	6.989469e-01	0	7	0	102	5
VAC14	55697	broad.mit.edu	37	16	70765467	70765467	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:70765467A>G	ENST00000261776.5	-	14	1852	c.1592T>C	c.(1591-1593)aTg>aCg	p.M531T		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	41	69	0	120	531					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				AAGGTTGATCATGAACTTATA	0.468000													1	1	1	1	1	1	1.000000	42	71	0	122	1	1	58	44	0	122	5
VAC14	55697	broad.mit.edu	37	16	70817355	70817355	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:70817355G>A	ENST00000261776.5	-	6	957	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	22	40	0	62	233					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.R233C(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CACATTTTGCGAATCTCTTTG	0.587000													1	1	1	1	1	1	1.000000	23	44	0	68	1	9.999995e-01	21	38	0	68	5
PMFBP1	83449	broad.mit.edu	37	16	72184724	72184724	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:72184724A>C	ENST00000537465.1	-	5	577	c.419T>G	c.(418-420)aTt>aGt	p.I140S	PMFBP1_ENST00000237353.10_Missense_Mutation_p.I140S|PMFBP1_ENST00000355636.6_5'UTR			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	30	38	0	78	140										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTCATAGAGAATCACCTGTAG	0.498000													1	1	1	1	1	1	1.000000	30	41	0	88	0	0	0	0	0	88	5
ZFHX3	463	broad.mit.edu	37	16	72829497	72829497	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:72829497C>T	ENST00000268489.5	-	9	7756	c.7084G>A	c.(7084-7086)Gac>Aac	p.D2362N	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D1448N	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	50	74	0	126	2362					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			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTTGGCTGTCGTCCTGCCCC	0.532000													1	1	1	1	1	1	1.000000	55	79	0	135	0	0	0	0	0	135	5
CNTNAP4	85445	broad.mit.edu	37	16	76592493	76592493	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:76592493G>T	ENST00000307431.8	+	25	4222	c.3837G>T	c.(3835-3837)gaG>gaT	p.E1279D	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E1207D|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.E1283D|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E1231D|RP11-58C22.1_ENST00000563764.1_Intron|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	13	21	0	31	1280					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AAAGGTCAGAGAATGTAGACA	0.373000													1	1	1	1	1	1	0.999934	14	22	0	33	0	0	0	0	0	33	5
MON1B	22879	broad.mit.edu	37	16	77227525	77227525	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:77227525G>A	ENST00000248248.3	+	3	676	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	MON1B_ENST00000545553.1_Intron|MON1B_ENST00000439557.2_Intron|MON1B_ENST00000320859.6_Missense_Mutation_p.R109Q	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	21	44	0	73	109							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CGCAGCCAGCGGAAGCATGTG	0.612000													1	1	1	1	1	1	1.000000	22	47	0	77	1	9.883603e-01	9	10	0	77	5
ADAMTS18	170692	broad.mit.edu	37	16	77359844	77359844	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:77359844G>A	ENST00000282849.5	-	13	2369	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	21	29	0	47	651	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGTTGAGCCCGAAAATCCAAG	0.423000													1	1	1	1	1	1	1.000000	22	29	0	50	0	0	0	0	0	50	5
ATMIN	23300	broad.mit.edu	37	16	81077539	81077539	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:81077539T>G	ENST00000566488.1	+	3	1931	c.968T>G	c.(967-969)tTt>tGt	p.F323C	ATMIN_ENST00000299575.4_Missense_Mutation_p.F479C|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.F323C			O43313	ATMIN_HUMAN	ATM interactor	39	60	0	78	479	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						ACTGATGCATTTATGGACACC	0.458000													1	1	1	1	1	1	1.000000	39	61	0	79	1	9.999944e-01	13	23	0	79	5
PKD1L2	114780	broad.mit.edu	37	16	81224277	81224277	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:81224277C>A	ENST00000599697.1	-	9	1663	c.1664G>T	c.(1663-1665)gGa>gTa	p.G555V	PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	35	79	0	93	555	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CACACTCTTTCCTTCAGCATT	0.413000													1	1	1	1	1	1	1.000000	45	89	0	112	0	0	0	0	0	112	5
BCMO1	53630	broad.mit.edu	37	16	81279168	81279168	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:81279168C>T	ENST00000425577.2	+	2	373	c.76C>T	c.(76-78)Cga>Tga	p.R26*	BCMO1_ENST00000258168.2_Silent_p.F51F|BCMO1_ENST00000564552.1_Silent_p.F51F			Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	34	86	0	106	0					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACCATTGGTTCGACGGCCTTG	0.577000													1	0	1	1	1	1	1.000000	36	92	0	117	0	8.256019e-02	1	1	0	117	4
CDH13	1012	broad.mit.edu	37	16	83816998	83816998	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:83816998C>A	ENST00000566620.1	+	13	2345	c.2055C>A	c.(2053-2055)tcC>tcA	p.S685S	CDH13_ENST00000268613.10_Silent_p.S732S|CDH13_ENST00000428848.3_Silent_p.S646S	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	8	76	0	73	685	Cadherin 5.				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)		GCAGGAATTCCAAAGTGGACT	0.532000													1	1	1	1	0	1	0.990417	8	86	0	76	0	4.970545e-02	0	4	0	76	4
DNAAF1	123872	broad.mit.edu	37	16	84193391	84193391	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:84193391C>T	ENST00000378553.5	+	6	977	c.853C>T	c.(853-855)Cca>Tca	p.P285S	DNAAF1_ENST00000334315.5_Missense_Mutation_p.P285S|DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	18	33	0	38	285	LRRCT.				axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						ACCAGTGTTTCCAAAGGACAG	0.353000													1	1	1	1	1	1	1.000000	25	39	0	43	0	1.587517e-01	1	1	0	43	5
FAM92B	339145	broad.mit.edu	37	16	85135934	85135934	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:85135934C>A	ENST00000539556.1	-	7	693		c.e7-1			NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	12	35	0	41											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						AAAAAAATTTCTGTGGGGAGA	0.517000													1	1	1	1	0	1	0.999504	12	39	0	43	0	0	0	0	0	43	4
GSE1	23199	broad.mit.edu	37	16	85696959	85696959	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:85696959T>C	ENST00000253458.7	+	11	2559	c.2383T>C	c.(2383-2385)Ttt>Ctt	p.F795L	GSE1_ENST00000393243.1_Missense_Mutation_p.F722L|GSE1_ENST00000405402.2_Missense_Mutation_p.F691L	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein	78	124	0	190																		GAAGCTAGAGTTTTTGCAACT	0.547000													1	1	1	1	1	1	1.000000	88	137	0	216	1	9.999870e-01	15	16	0	216	5
GSE1	23199	broad.mit.edu	37	16	85697170	85697170	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:85697170A>C	ENST00000253458.7	+	11	2770	c.2594A>C	c.(2593-2595)aAg>aCg	p.K865T	GSE1_ENST00000393243.1_Missense_Mutation_p.K792T|GSE1_ENST00000405402.2_Missense_Mutation_p.K761T	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein	31	72	0	107																		GAAAAGAAGAAGTTCCTGACC	0.562000													1	1	1	1	1	1	1.000000	33	78	0	114	1	9.999614e-01	22	21	0	114	5
FOXF1	2294	broad.mit.edu	37	16	86544588	86544588	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:86544588G>A	ENST00000262426.4	+	1	456	c.413G>A	c.(412-414)cGg>cAg	p.R138Q		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	63	117	0	193	138					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			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GGCTCCTTTCGGCGGCGGCCG	0.647000													1	1	1	1	0	1	1.000000	70	125	0	216	0	1.310568e-01	0	2	0	216	4
ZCCHC14	23174	broad.mit.edu	37	16	87454256	87454256	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:87454256A>G	ENST00000268616.4	-	5	713	c.496T>C	c.(496-498)Ttt>Ctt	p.F166L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	5	21	0	19	166					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TCCACATAAAATGCGTCCGGA	0.562000													1	1	1	1	1	1	0.943142	5	25	0	20	0	9.518717e-02	0	3	0	20	5
ZC3H18	124245	broad.mit.edu	37	16	88666313	88666313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:88666313C>T	ENST00000301011.5	+	6	1245	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R373*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	44	76	0	137	349						nucleus	nucleic acid binding|zinc ion binding	p.R349*(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TGAAGTTTTTCGAGATTGGAA	0.488000													1	1	1	1	1	1	1.000000	51	83	0	149	0	9.999993e-01	1	41	0	149	5
CBFA2T3	863	broad.mit.edu	37	16	88945713	88945713	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:88945713G>T	ENST00000268679.4	-	11	2023	c.1627C>A	c.(1627-1629)Ctg>Atg	p.L543M	CBFA2T3_ENST00000436887.2_Missense_Mutation_p.L505M|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.L467M|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.L457M|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.L457M	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	5	68	0	67	543					cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		ATGACCGTCAGGGCGTCCTCG	0.711000			T	RUNX1	AML								1	0	1	1	0	1	0.982212	7	74	0	74	0	0	0	1	0	74	3
PRDM7	11105	broad.mit.edu	37	16	90124880	90124880	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr16:90124880G>T	ENST00000407825.1	-	9	1032	c.395C>A	c.(394-396)tCt>tAt	p.S132Y	PRDM7_ENST00000325921.6_Missense_Mutation_p.S132Y|PRDM7_ENST00000449207.2_Missense_Mutation_p.F432L			Q9NQW5	PRDM7_HUMAN	PR domain containing 7	36	85	0	157	340						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		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)		TGTTGACTGAGAAATTTTTGA	0.463000													1	1	1	1	1	1	1.000000	41	91	0	170	0	0	0	0	0	170	5
VPS53	55275	broad.mit.edu	37	17	465979	465979	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:465979G>A	ENST00000437048.2	-	14	1466	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L	VPS53_ENST00000291074.5_Silent_p.L411L|VPS53_ENST00000446250.2_Silent_p.L242L|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Silent_p.L163L|VPS53_ENST00000571805.1_Silent_p.L440L|VPS53_ENST00000576149.1_5'UTR	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	21	34	0	62	440					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TCAGCTCTCCGAGGTTCCTAG	0.468000													1	1	1	1	0	1	1.000000	23	36	0	65	1	9.958962e-01	5	13	0	65	4
SMYD4	114826	broad.mit.edu	37	17	1703308	1703308	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:1703308C>T	ENST00000305513.7	-	5	1547	c.1380G>A	c.(1378-1380)caG>caA	p.Q460Q		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	26	37	0	52	460	SET.						zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TTGGGATGGCCTGTAAACTGG	0.502000													1	1	1	1	1	1	1.000000	26	39	0	58	1	9.955775e-01	11	6	0	58	5
RPA1	6117	broad.mit.edu	37	17	1782331	1782331	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:1782331C>A	ENST00000254719.5	+	9	845	c.735C>A	c.(733-735)ttC>ttA	p.F245L	RPA1_ENST00000573924.1_3'UTR	NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	16	31	0	57	245					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			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TGGACAAGTTCTTTCCTCTTA	0.557000								Nucleotide excision repair (NER)					1	1	1	1	1	1	1.000000	21	33	0	62	1	1	76	82	0	62	5
RTN4RL1	146760	broad.mit.edu	37	17	1840609	1840609	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:1840609G>A	ENST00000331238.5	-	2	525	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	9	45	0	60	169					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CCAGGTCCACGAAGATGTCGT	0.632000													1	1	1	1	1	1	0.995547	9	46	0	65	0	8.628380e-02	1	2	0	65	5
TSR1	55720	broad.mit.edu	37	17	2227591	2227591	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:2227591G>A	ENST00000301364.4	-	15	3393	c.2314C>T	c.(2314-2316)Cga>Tga	p.R772*	SRR_ENST00000344595.5_3'UTR	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	32	50	0	52	772					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGGAAGACTCGTTTATACAGG	0.443000													1	1	1	1	1	1	1.000000	32	53	0	53	1	1	76	146	0	53	5
PAFAH1B1	5048	broad.mit.edu	37	17	2573541	2573541	+	Missense_Mutation	SNP	G	G	A	rs121434487		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:2573541G>A	ENST00000397195.5	+	6	935	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	PAFAH1B1_ENST00000397193.3_3'UTR	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	40	107	0	108	162	Interaction with dynein and dynactin.		G -> S (in LIS1; dbSNP:rs28936410).		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			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CGACCACAGCGGCAAGCTTCT	0.448000													1	1	1	1	1	1	1.000000	43	117	0	112	1	1	47	79	0	112	5
ZZEF1	23140	broad.mit.edu	37	17	3974124	3974124	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:3974124A>C	ENST00000381638.2	-	26	4053	c.3929T>G	c.(3928-3930)cTt>cGt	p.L1310R		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	30	67	0	70	1310							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCCTTTGAAAAGTTCTGAATA	0.463000													1	1	1	1	1	1	1.000000	30	71	0	76	0	3.508061e-01	0	4	0	76	5
UBE2G1	7326	broad.mit.edu	37	17	4210374	4210374	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4210374C>T	ENST00000396981.2	-	2	256	c.91G>A	c.(91-93)Gat>Aat	p.D31N	UBE2G1_ENST00000572484.1_5'UTR	NM_003342.4	NP_003333.1	P62253	UB2G1_HUMAN	ubiquitin-conjugating enzyme E2G 1	23	30	0	55	31					protein K48-linked ubiquitination|protein K63-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			large_intestine(2)|lung(4)|skin(1)	7						TCATTGTCATCTATTAAACCT	0.353000													1	1	1	1	1	1	1.000000	28	32	0	63	1	1	41	23	0	63	5
PELP1	27043	broad.mit.edu	37	17	4576196	4576196	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4576196G>A	ENST00000301396.4	-	16	2747	c.2522C>T	c.(2521-2523)tCg>tTg	p.S841L	PELP1_ENST00000574876.1_Missense_Mutation_p.S697L|PELP1_ENST00000269230.7_Missense_Mutation_p.S607L|PELP1_ENST00000572293.1_Missense_Mutation_p.S747L|PELP1_ENST00000436683.2_Missense_Mutation_p.S550L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	25	37	0	50	697	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	p.S747L(2)|p.S841L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AGGGCGTGCCGAGGGCACAGG	0.677000													1	1	1	1	1	1	1.000000	29	38	0	52	1	1	73	88	0	52	5
CAMTA2	23125	broad.mit.edu	37	17	4873207	4873207	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4873207C>T	ENST00000361571.5	-	17	3587	c.3176G>A	c.(3175-3177)cGa>cAa	p.R1059Q	CAMTA2_ENST00000572543.1_Missense_Mutation_p.R1065Q|CAMTA2_ENST00000358183.4_Missense_Mutation_p.R1060Q|CAMTA2_ENST00000348066.3_Missense_Mutation_p.R1060Q|CAMTA2_ENST00000414043.3_Missense_Mutation_p.R1083Q|CAMTA2_ENST00000381311.5_Missense_Mutation_p.R1062Q	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	89	134	0	229	1060	IQ 1.				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			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTGTACTTTCGGAAGGCCGT	0.547000													1	1	1	1	1	1	1.000000	94	147	0	264	1	1	30	26	0	264	5
ZFP3	124961	broad.mit.edu	37	17	4996205	4996205	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:4996205G>T	ENST00000318833.3	+	2	1742	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	16	42	0	56	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						ATACATCAGAGAATTCACACT	0.428000													1	1	1	1	1	1	0.999994	18	45	0	60	1	6.327803e-01	5	2	0	60	5
USP6	9098	broad.mit.edu	37	17	5064861	5064861	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:5064861G>A	ENST00000574788.1	+	32	5097	c.2867G>A	c.(2866-2868)cGa>cAa	p.R956Q	USP6_ENST00000250066.6_Missense_Mutation_p.R956Q|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.R639Q			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	16	36	0	34	956					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			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTCACTCTACGAGTTGTGCAG	0.393000			T	COL1A1, CDH11, ZNF9, OMD	aneurysmal bone cysts								1	1	1	1	1	1	0.999999	20	37	0	40	0	0	0	0	0	40	5
ZNF594	84622	broad.mit.edu	37	17	5085278	5085278	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:5085278C>A	ENST00000399604.4	-	1	2414	c.2274G>T	c.(2272-2274)aaG>aaT	p.K758N	ZNF594_ENST00000575779.1_Missense_Mutation_p.K758N			Q96JF6	ZN594_HUMAN	zinc finger protein 594	55	124	0	143	758					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AATAAACTTTCTTTTCCTGGT	0.418000													1	1	1	1	1	1	1.000000	57	135	0	153	1	8.423569e-01	6	4	0	153	5
MIS12	79003	broad.mit.edu	37	17	5392583	5392583	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:5392583C>A	ENST00000381165.3	+	3	954	c.401C>A	c.(400-402)aCt>aAt	p.T134N	MIS12_ENST00000573759.1_Missense_Mutation_p.T134N	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN	MIS12 kinetochore complex component	10	99	0	106	134					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						GAATTATGTACTAAGCAGGCC	0.378000													1	1	1	1	0	1	0.997318	10	101	0	110	1	7.535092e-01	6	22	0	110	4
ACKR6	0	broad.mit.edu	37	17	6358759	6358759	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:6358759C>T	ENST00000262483.8	-	20	2911	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	ACKR6_ENST00000421306.3_Missense_Mutation_p.E906K|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2				16	33	0	61																		TGGGCCCGCTCGGGCTTGGGG	0.726000													1	1	1	1	0	1	0.999996	18	37	0	69	1	6.379126e-01	4	2	0	69	4
KIAA0753	9851	broad.mit.edu	37	17	6493188	6493188	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:6493188G>A	ENST00000361413.3	-	18	3055	c.2697C>T	c.(2695-2697)atC>atT	p.I899I	KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000589033.1_Silent_p.I355I|KIAA0753_ENST00000572370.1_Silent_p.I600I|KIAA0753_ENST00000542606.1_Silent_p.I600I	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	20	42	0	53	899						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		AGTAGTCACCGATGCTGTGCT	0.512000													1	1	1	1	1	1	0.999999	20	45	0	55	1	9.986551e-01	15	14	0	55	5
FBXO39	162517	broad.mit.edu	37	17	6690193	6690193	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:6690193T>G	ENST00000321535.4	+	3	1248	c.1118T>G	c.(1117-1119)aTc>aGc	p.I373S		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	39	65	0	81	373										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TACTTCAAAATCTGGGCTTTC	0.463000													1	1	1	1	1	1	1.000000	43	69	0	84	0	0	0	0	0	84	5
DLG4	1742	broad.mit.edu	37	17	7106763	7106763	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7106763T>G	ENST00000399510.2	-	8	1466	c.614A>C	c.(613-615)aAg>aCg	p.K205T	DLG4_ENST00000302955.6_Missense_Mutation_p.K159T|DLG4_ENST00000485100.1_Missense_Mutation_p.K159T|DLG4_ENST00000399506.2_Missense_Mutation_p.K162T	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	36	64	0	81	162	PDZ 2.				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			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CTTGATGAGCTTGATCTCCAT	0.602000													1	1	1	1	1	1	1.000000	40	72	0	93	1	9.144392e-01	4	6	0	93	5
SLC2A4	6517	broad.mit.edu	37	17	7186949	7186949	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7186949C>A	ENST00000317370.8	+	3	576	c.308C>A	c.(307-309)tCt>tAt	p.S103Y	SLC2A4_ENST00000424875.2_Missense_Mutation_p.S93Y|SLC2A4_ENST00000571308.1_Missense_Mutation_p.S103Y|RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	27	62	0	102	103					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			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTATCATCTCTCAGTGGCTT	0.617000													1	1	1	1	1	1	1.000000	29	69	0	115	0	0	1	0	0	115	5
YBX2	51087	broad.mit.edu	37	17	7192940	7192940	+	Missense_Mutation	SNP	C	C	T	rs142210139		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7192940C>T	ENST00000007699.5	-	7	1016	c.953G>A	c.(952-954)cGc>cAc	p.R318H		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	15	32	0	35	318	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GTTTCGTGGGCGCTGGGGCTC	0.721000													1	1	1	1	0	1	0.999995	18	35	0	37	1	9.997730e-01	16	19	0	37	4
NEURL4	84461	broad.mit.edu	37	17	7219540	7219540	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7219540C>A	ENST00000399464.2	-	29	4606	c.4591G>T	c.(4591-4593)Gaa>Taa	p.E1531*	NEURL4_ENST00000315614.7_Nonsense_Mutation_p.E1529*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.E1507*|RP11-542C16.2_ENST00000575474.1_Intron	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4	19	50	0	56											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAGGAGGTTCTCCAAGGGCA	0.642000													1	1	1	1	1	1	0.999999	20	51	0	60	1	9.999999e-01	37	54	0	60	5
POLR2A	5430	broad.mit.edu	37	17	7404318	7404318	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7404318G>A	ENST00000322644.6	+	12	2340	c.1941G>A	c.(1939-1941)acG>acA	p.T647T		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	21	43	0	54	647					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|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|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ctCTGGGCACGTCAGCTGGCT	0.542000													1	1	1	1	1	1	1.000000	22	44	0	61	1	9.999999e-01	34	35	0	61	5
ATP1B2	482	broad.mit.edu	37	17	7557947	7557947	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7557947T>C	ENST00000250111.4	+	5	961	c.552_splice	c.e5-1	p.V185_splice		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	18	136	0	139	185					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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		TCACTCCAGGTCATCAACTTC	0.532000													1	1	1	1	1	1	0.999997	20	152	0	158	0	0	0	0	0	158	5
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	23	37	0	55	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		ACACTATGTCGAAAAGTGTTT	0.532000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	25	39	0	62	1	1	5	72	0	62	5
TP53	7157	broad.mit.edu	37	17	7578389	7578389	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7578389G>A	ENST00000420246.2	-	5	673	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	TP53_ENST00000445888.2_Missense_Mutation_p.R181C|TP53_ENST00000359597.4_Missense_Mutation_p.R181C|TP53_ENST00000413465.2_Missense_Mutation_p.R181C|TP53_ENST00000455263.2_Missense_Mutation_p.R181C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R181C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	16	44	0	62	181	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R181C(19)|p.0?(8)|p.P177_C182delPHHERC(8)|p.R174fs*24(3)|p.C176_R181delCPHHER(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.R49C(2)|p.R88C(2)|p.V173fs*59(2)|p.C176fs*65(1)|p.R181G(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.R181>XXXXXXX(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		TCTGAGCAGCGCTCATGGTGG	0.637000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	0.999972	16	47	0	65	1	9.999815e-01	49	17	0	65	5
WRAP53	55135	broad.mit.edu	37	17	7606440	7606440	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7606440C>T	ENST00000316024.5	+	9	3746	c.1398C>T	c.(1396-1398)ggC>ggT	p.G466G	WRAP53_ENST00000431639.2_Silent_p.G466G|WRAP53_ENST00000396463.2_Silent_p.G466G|WRAP53_ENST00000457584.2_Silent_p.G466G|WRAP53_ENST00000534050.1_Silent_p.G433G			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	14	48	0	61	466					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCACCAATGGCGTGAGGTCCT	0.592000													1	1	1	1	1	1	0.999868	14	51	0	67	1	9.998821e-01	24	42	0	67	5
DNAH2	146754	broad.mit.edu	37	17	7678128	7678128	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7678128A>C	ENST00000572933.1	+	29	6013	c.4553A>C	c.(4552-4554)aAa>aCa	p.K1518T	DNAH2_ENST00000389173.2_Missense_Mutation_p.K1518T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	26	28	0	28	1518	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GATATTCAGAAATCTCTGGAT	0.448000													1	1	1	1	1	1	1.000000	30	29	0	30	0	0	0	0	0	30	5
DNAH2	146754	broad.mit.edu	37	17	7678157	7678157	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7678157C>T	ENST00000572933.1	+	29	6042	c.4582C>T	c.(4582-4584)Cga>Tga	p.R1528*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.R1528*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	6	59	0	38	1528	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGAGACCAAGCGACATATTTT	0.463000													1	0	1	1	0	1	0.967229	6	64	0	40	0	0	0	0	0	40	3
DNAH2	146754	broad.mit.edu	37	17	7707670	7707670	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7707670G>T	ENST00000572933.1	+	59	10529	c.9069G>T	c.(9067-9069)gtG>gtT	p.V3023V	DNAH2_ENST00000389173.2_Silent_p.V3023V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	23	66	0	74	3023	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGTGCAAGTGATGTCGTTGG	0.542000													1	1	1	1	1	1	1.000000	24	68	0	81	0	1.774216e-01	1	2	0	81	5
DNAH2	146754	broad.mit.edu	37	17	7733753	7733753	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7733753A>C	ENST00000572933.1	+	78	13449	c.11989A>C	c.(11989-11991)Aag>Cag	p.K3997Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.K3997Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	35	71	0	106	3997	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			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAACGCAAAAAGTTCCTGCA	0.478000													1	1	1	1	1	1	1.000000	38	74	0	118	1	9.440856e-01	4	8	0	118	5
DNAH2	146754	broad.mit.edu	37	17	7735091	7735091	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:7735091A>C	ENST00000572933.1	+	82	14184	c.12724A>C	c.(12724-12726)Aag>Cag	p.K4242Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.K4242Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	13	31	0	32	4242					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCTCTGGGGAAAGGCAAGATT	0.488000													1	1	1	1	1	1	0.999980	16	33	0	33	1	9.880942e-01	4	15	0	33	5
MYH10	4628	broad.mit.edu	37	17	8508286	8508286	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:8508286G>T	ENST00000360416.3	-	3	498	c.360C>A	c.(358-360)ctC>ctA	p.L120L	MYH10_ENST00000269243.4_Silent_p.L120L|MYH10_ENST00000379980.4_Silent_p.L120L|MYH10_ENST00000396239.1_Silent_p.L120L	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	10	23	0	25	120	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			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTACACAGAAGAGTCCAGAAT	0.343000													0	0	1	0	0	1	0.998296	10	24	0	26	1	9.687217e-01	10	8	0	26	1
MYH13	8735	broad.mit.edu	37	17	10206514	10206514	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10206514G>A	ENST00000418404.3	-	38	5829	c.5667_splice	c.e38+1	p.A1889_splice	MYH13_ENST00000570743.1_Splice_Site_p.A1889_splice|MYH13_ENST00000252172.4_Splice_Site_p.A1889_splice			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	62	119	0	166	1889					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGTGCTTACCGCCTCCTCAGC	0.597000													1	1	1	1	1	1	1.000000	70	129	0	183	0	0	0	0	0	183	5
MYH1	4619	broad.mit.edu	37	17	10402095	10402095	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10402095G>T	ENST00000226207.5	-	30	4123	c.4029C>A	c.(4027-4029)gaC>gaA	p.D1343E	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	31	54	0	80	1343						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGGTCACAGTCATGGCGGG	0.507000													1	1	1	1	1	1	1.000000	46	73	0	89	0	0	0	0	0	89	5
MYH2	4620	broad.mit.edu	37	17	10427885	10427885	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10427885G>A	ENST00000245503.5	-	35	5457	c.5073C>T	c.(5071-5073)atC>atT	p.I1691I	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.I1691I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	26	58	0	76	1691					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCAGCTCCTCGATCTCAGCCT	0.592000													1	1	1	1	1	1	1.000000	28	61	0	74	0	0	0	0	0	74	5
MYH2	4620	broad.mit.edu	37	17	10441078	10441078	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10441078G>A	ENST00000245503.5	-	15	1875	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	MYH2_ENST00000532183.1_Silent_p.F497F|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.F497F	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	52	106	0	130	497	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			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTCCAGCACGAACATGTGGT	0.478000													1	1	1	1	1	1	1.000000	56	112	0	130	0	0	0	0	0	130	5
MYH2	4620	broad.mit.edu	37	17	10447242	10447242	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:10447242C>A	ENST00000245503.5	-	7	1009	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	MYH2_ENST00000532183.1_Nonsense_Mutation_p.E209*|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Nonsense_Mutation_p.E209*	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	22	38	0	53	209	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			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAAGTAATTTCTTCCTTCTTC	0.458000													1	1	1	1	1	1	1.000000	22	40	0	56	0	0	0	0	0	56	5
DNAH9	1770	broad.mit.edu	37	17	11573031	11573031	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11573031C>A	ENST00000262442.3	+	17	3341	c.3273C>A	c.(3271-3273)ccC>ccA	p.P1091P	DNAH9_ENST00000454412.2_Silent_p.P1091P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	18	119	0	118	1091	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			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		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)		ATATTCGACCCTTTAAGGCAT	0.443000													1	1	1	1	1	1	0.999994	19	127	0	125	0	0	0	0	0	125	5
DNAH9	1770	broad.mit.edu	37	17	11593429	11593429	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11593429G>T	ENST00000262442.3	+	20	4358	c.4290G>T	c.(4288-4290)gaG>gaT	p.E1430D	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1430D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	19	38	0	26	1430	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			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		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)		CTGCAAAAGAGATGGGTATGG	0.562000													1	1	1	1	0	1	0.999998	19	39	0	27	0	0	0	0	0	27	4
MAP2K4	6416	broad.mit.edu	37	17	11984700	11984700	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11984700G>A	ENST00000415385.3	+	4	332	c.279G>A	c.(277-279)gaG>gaA	p.E93E	MAP2K4_ENST00000353533.5_Silent_p.E82E			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	21	30	0	51	82					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.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		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)		ACAGCATTGAGTCATCAGGAA	0.378000			D, Mis, N		pancreatic, breast, colorectal								1	1	1	1	1	1	1.000000	21	33	0	61	1	5.097511e-01	4	0	0	61	5
RP11-385D13.1	0	broad.mit.edu	37	17	15519060	15519060	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:15519060G>A	ENST00000455584.2	-	8	1542	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	CDRT1_ENST00000395906.3_Missense_Mutation_p.A190V						5	33	0	73																		TTGTGAGGTCGCAGACTTGGA	0.478000													0	0	1	1	0	1	0.942049	5	33	0	53	0	0	0	0	0	53	2
ZNF286A	57335	broad.mit.edu	37	17	15620126	15620126	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:15620126T>G	ENST00000464847.2	+	5	1641	c.1088T>G	c.(1087-1089)tTt>tGt	p.F363C	ZNF286A_ENST00000413242.2_Missense_Mutation_p.F363C|ZNF286A_ENST00000583566.1_Missense_Mutation_p.F363C|ZNF286A_ENST00000593105.1_Missense_Mutation_p.F353C|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.F363C|ZNF286A_ENST00000395894.2_3'UTR			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	9	30	0	41	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GATAAAGCTTTTATTCATTCA	0.368000													1	0	1	1	0	1	0.998047	10	32	0	31	0	0	0	1	0	31	3
ZNF286A	57335	broad.mit.edu	37	17	15620411	15620411	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:15620411G>T	ENST00000464847.2	+	5	1926	c.1373G>T	c.(1372-1374)aGa>aTa	p.R458I	ZNF286A_ENST00000413242.2_Missense_Mutation_p.R458I|ZNF286A_ENST00000583566.1_Missense_Mutation_p.R458I|ZNF286A_ENST00000593105.1_Missense_Mutation_p.R448I|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Missense_Mutation_p.R458I|ZNF286A_ENST00000395894.2_3'UTR			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	19	26	0	36	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R458I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		AAACATCAAAGAATTCATATT	0.408000													1	1	1	1	1	1	1.000000	21	26	0	38	1	9.477524e-01	4	5	0	38	5
ZNF624	57547	broad.mit.edu	37	17	16527311	16527311	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:16527311T>C	ENST00000311331.7	-	6	980	c.889A>G	c.(889-891)Act>Gct	p.T297A		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	21	51	0	55	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTAGTATGAGTTCTTTGATGT	0.343000													1	1	1	1	1	1	0.999999	21	56	0	57	0	8.006329e-02	0	2	0	57	5
CCDC144A	9720	broad.mit.edu	37	17	16612833	16612833	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:16612833G>T	ENST00000443444.2	+	5	1602	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*	CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Nonsense_Mutation_p.E488*|CCDC144A_ENST00000360524.8_Nonsense_Mutation_p.E488*|CCDC144A_ENST00000340621.5_Nonsense_Mutation_p.E487*|CCDC144A_ENST00000399273.1_Nonsense_Mutation_p.E488*			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	20	47	0	81	488																	CAGAACATCAGAAGTATATCT	0.353000													0	0	1	1	0	1	0.999999	20	47	0	65	0	0	0	0	0	65	2
COPS3	8533	broad.mit.edu	37	17	17179423	17179423	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:17179423C>A	ENST00000539941.2	-	2	259	c.51G>T	c.(49-51)aaG>aaT	p.K17N	COPS3_ENST00000268717.5_Missense_Mutation_p.K37N|COPS3_ENST00000439936.2_Missense_Mutation_p.K17N	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	20	45	0	66	37					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GGGATAAGTTCTTCGCAAGGA	0.458000													1	1	1	1	1	1	0.999999	20	50	0	71	1	1	51	60	0	71	5
LRRC48	83450	broad.mit.edu	37	17	17909551	17909551	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:17909551G>A	ENST00000313838.8	+	12	1565	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	LRRC48_ENST00000411504.2_Missense_Mutation_p.E396K|LRRC48_ENST00000399187.1_Missense_Mutation_p.E396K|LRRC48_ENST00000399182.1_Missense_Mutation_p.E396K|LRRC48_ENST00000584166.1_Missense_Mutation_p.E396K	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	4	12	0	12	396						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					ACTGTTTATCGAAAATGTCCA	0.433000													0	0	1	0	1	1	0.947670	5	13	0	12	1	6.346732e-01	4	3	0	12	2
GID4	79018	broad.mit.edu	37	17	17957474	17957474	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:17957474G>A	ENST00000268719.4	+	3	705	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	GID4_ENST00000376345.3_Missense_Mutation_p.E178K	NM_024052.4	NP_076957.3			GID complex subunit 4	28	34	0	46																		CTTCGAAGGAGAAATAATCAG	0.388000													1	1	1	1	1	1	1.000000	32	37	0	52	1	9.989145e-01	7	10	0	52	5
EVPLL	645027	broad.mit.edu	37	17	18284997	18284997	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:18284997G>A	ENST00000399134.4	+	4	657	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	16	41	0	52	100										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CTGCCGCCCCGACGTGGGATC	0.607000													1	0	1	1	1	1	0.999994	18	46	0	52	1	8.593397e-02	2	0	0	52	4
TBC1D28	254272	broad.mit.edu	37	17	18539887	18539887	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:18539887A>C	ENST00000345096.4	-	9	1220	c.521T>G	c.(520-522)cTc>cGc	p.L174R	TBC1D28_ENST00000405044.1_Missense_Mutation_p.L174R			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	16	138	0	183	174	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						ATAGGCCACGAGGATGTCACA	0.463000													1	1	1	1	0	1	0.999997	20	160	0	188	0	0	0	0	0	188	4
TVP23B	51030	broad.mit.edu	37	17	18694243	18694243	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:18694243C>T	ENST00000307767.8	+	3	429	c.130C>T	c.(130-132)Cga>Tga	p.R44*	TVP23B_ENST00000574226.1_Nonsense_Mutation_p.R44*|TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000581733.1_5'UTR	NM_016078.4	NP_057162.4			trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)	36	83	0	168																		CTTATTCTTTCGAGTCAGTGC	0.383000													1	1	1	1	0	1	1.000000	37	93	0	121	1	9.911706e-01	2	20	0	121	4
MAP2K3	5606	broad.mit.edu	37	17	21202199	21202199	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:21202199G>A	ENST00000342679.4	+	3	375	c.126G>A	c.(124-126)cgG>cgA	p.R42R	MAP2K3_ENST00000316920.6_Silent_p.R13R|MAP2K3_ENST00000361818.5_Silent_p.R13R	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	6	95	0	111	42					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								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GACCCCCCCGGAACCTGGACT	0.622000													1	0	1	1	0	1	0.966312	6	107	0	129	1	9.775879e-01	37	91	0	129	3
KCNJ12	3768	broad.mit.edu	37	17	21319491	21319491	+	Silent	SNP	G	G	A	rs111560549	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:21319491G>A	ENST00000583088.1	+	3	1732	c.837G>A	c.(835-837)ccG>ccA	p.P279P	KCNJ12_ENST00000331718.5_Silent_p.P279P	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12	24	91	0	115											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		AGGCCAGCCCGCTCTTCGGCA	0.607000										Prostate(3;0.18)			1	1	1	1	0	1	1.000000	24	110	0	121	0	0	0	0	0	121	4
WSB1	26118	broad.mit.edu	37	17	25639387	25639387	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:25639387C>T	ENST00000262394.2	+	9	1574	c.1258C>T	c.(1258-1260)Cgt>Tgt	p.R420C	WSB1_ENST00000348811.2_Missense_Mutation_p.R274C	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	86	151	0	263	420	SOCS box.				intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCTCTCGTATCGTATTTAGAA	0.423000													1	1	1	1	1	1	1.000000	93	160	0	281	1	1	80	123	0	281	5
NOS2	4843	broad.mit.edu	37	17	26109077	26109077	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26109077C>A	ENST00000313735.6	-	7	919	c.686G>T	c.(685-687)aGa>aTa	p.R229I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	5	39	0	39	229					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			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ACGCACGTGTCTGCAGATGTG	0.542000													0	0	1	0	1	1	0.940987	5	44	0	45	0	0	0	0	0	45	2
NOS2	4843	broad.mit.edu	37	17	26114738	26114738	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26114738C>T	ENST00000313735.6	-	5	666	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	50	81	0	140	145					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			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TTGACAAATTCGATAGCTTGA	0.527000													1	1	1	1	1	1	1.000000	51	83	0	149	0	0	0	0	0	149	5
VTN	7448	broad.mit.edu	37	17	26696426	26696426	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26696426C>T	ENST00000226218.4	-	4	1171	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	SEBOX_ENST00000536498.1_5'UTR|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	32	69	0	105	185	Hemopexin-like 1.				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	p.E185K(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	ACTGCCTTTTCGTCCAGTTCA	0.607000													1	1	1	1	1	1	1.000000	32	78	0	112	0	2.115244e-01	0	3	0	112	5
PIGS	94005	broad.mit.edu	37	17	26890915	26890915	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:26890915T>G	ENST00000308360.7	-	4	672	c.297A>C	c.(295-297)aaA>aaC	p.K99N	PIGS_ENST00000543734.1_Missense_Mutation_p.K38N|PIGS_ENST00000395346.2_Missense_Mutation_p.K91N	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	4	124	0	116	99					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGCATTTGATTTTCATTTTGT	0.522000													0	0	1	0	0	1	0.891513	4	131	0	125	1	8.051642e-01	2	98	0	125	1
RAB34	83871	broad.mit.edu	37	17	27041840	27041840	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:27041840G>A	ENST00000395245.3	-	9	1309	c.683C>T	c.(682-684)tCg>tTg	p.S228L	RAB34_ENST00000453384.3_Intron|RAB34_ENST00000395243.3_Missense_Mutation_p.S220L|RAB34_ENST00000301043.6_Missense_Mutation_p.S228L|RAB34_ENST00000447716.1_Missense_Mutation_p.S285L|RAB34_ENST00000415040.2_Missense_Mutation_p.S206L|RAB34_ENST00000395242.2_Missense_Mutation_p.S229L|RAB34_ENST00000436730.3_Missense_Mutation_p.S228L|RAB34_ENST00000450529.1_Missense_Mutation_p.S220L	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	25	58	0	92	228					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TCGAGCCCCCGATTTCTCCAG	0.547000													1	1	1	1	1	1	1.000000	25	61	0	105	1	1	327	450	0	105	5
NUFIP2	57532	broad.mit.edu	37	17	27620866	27620866	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:27620866T>G	ENST00000225388.4	-	1	270	c.212A>C	c.(211-213)aAg>aCg	p.K71T	NUFIP2_ENST00000579665.1_Missense_Mutation_p.K71T	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	9	201	0	244	71						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TTTCAGCGGCTTTGGCTGGGC	0.597000													1	0	1	1	0	1	0.998447	11	227	0	277	0	2.647201e-01	0	20	0	277	3
SSH2	85464	broad.mit.edu	37	17	27959445	27959445	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:27959445G>A	ENST00000269033.3	-	15	2837	c.2686C>T	c.(2686-2688)Cgt>Tgt	p.R896C	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.R923C	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	76	138	0	281	896					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		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAATTCTTACGAGTGGACAAT	0.512000													1	1	1	1	1	1	1.000000	82	151	0	323	1	5.760443e-01	2	3	0	323	5
SSH2	85464	broad.mit.edu	37	17	28003889	28003889	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28003889G>A	ENST00000269033.3	-	7	633	c.482C>T	c.(481-483)tCg>tTg	p.S161L	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.S188L|SSH2_ENST00000324677.7_5'UTR	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	11	33	0	31	161					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		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTATCCGTCGATACACTGAA	0.368000													1	1	1	1	1	1	0.999006	11	36	0	35	0	3.566966e-01	1	4	0	35	5
EFCAB5	374786	broad.mit.edu	37	17	28405274	28405274	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28405274G>A	ENST00000394835.3	+	15	2971	c.2779G>A	c.(2779-2781)Gaa>Aaa	p.E927K	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E803K	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	18	47	0	65	927							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCCTGGTCACGAAGTGAGATT	0.413000													1	1	1	1	1	1	0.999994	18	48	0	65	0	0	0	0	0	65	5
EFCAB5	374786	broad.mit.edu	37	17	28414099	28414099	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28414099C>T	ENST00000394835.3	+	19	3790	c.3598C>T	c.(3598-3600)Cgc>Tgc	p.R1200C	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R1076C	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	17	40	0	50	1200							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTATGTTTTACGCAACATGAT	0.393000													1	1	1	1	1	1	0.999995	18	43	0	57	0	0	0	0	0	57	5
EFCAB5	374786	broad.mit.edu	37	17	28417440	28417440	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28417440G>A	ENST00000394835.3	+	20	3877	c.3683_splice	c.e20-1	p.D1229_splice	RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Splice_Site_p.D1105_splice	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	18	29	0	36	1229							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGATTTCAGAGATTTCCTCTT	0.398000													1	1	1	1	0	1	0.999999	19	29	0	36	0	0	0	0	0	36	4
CPD	1362	broad.mit.edu	37	17	28776572	28776572	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:28776572T>G	ENST00000225719.4	+	13	2951	c.2873_splice	c.e13-1	p.L959_splice	CPD_ENST00000543464.2_Splice_Site_p.L712_splice	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	8	70	0	57	959	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TTTTGAAAGTTTGGGACAGAG	0.348000													0	0	1	0	0	1	0.990553	8	76	0	62	1	9.495289e-01	12	41	0	62	1
ATAD5	79915	broad.mit.edu	37	17	29162582	29162582	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29162582A>C	ENST00000321990.4	+	2	1861	c.1483A>C	c.(1483-1485)Aac>Cac	p.N495H	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	23	45	0	57	495					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCCAGGCAAAAACAGAGAGGG	0.308000													1	1	1	1	1	1	1.000000	25	48	0	62	0	0	0	0	0	62	5
ATAD5	79915	broad.mit.edu	37	17	29220402	29220402	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29220402C>A	ENST00000321990.4	+	21	4909	c.4531C>A	c.(4531-4533)Ctt>Att	p.L1511I		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	27	68	0	99	1511					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATATAGTAATCTTGAGTTTAT	0.348000													1	1	1	1	1	1	1.000000	29	76	0	103	1	6.204904e-01	3	4	0	103	5
ADAP2	55803	broad.mit.edu	37	17	29253886	29253886	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29253886C>T	ENST00000330889.3	+	3	602	c.267C>T	c.(265-267)ttC>ttT	p.F89F	ADAP2_ENST00000580525.1_Silent_p.F95F	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	19	43	0	39	89	Arf-GAP.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)|p.F89F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGGCCAAGTTCGAAGCCAGAG	0.488000													1	1	1	1	1	1	1.000000	22	45	0	42	0	7.898074e-01	1	7	0	42	5
ADAP2	55803	broad.mit.edu	37	17	29261312	29261312	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29261312A>G	ENST00000330889.3	+	5	842	c.507A>G	c.(505-507)gaA>gaG	p.E169E	ADAP2_ENST00000580525.1_Silent_p.E175E	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	9	22	0	19	169	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCACAAAGGAACAGGTAAGAT	0.473000													1	1	1	1	1	1	0.996410	9	24	0	19	0	6.189241e-01	0	7	0	19	5
NF1	4763	broad.mit.edu	37	17	29684049	29684049	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:29684049C>A	ENST00000358273.4	+	53	8193	c.7810C>A	c.(7810-7812)Ctc>Atc	p.L2604I	NF1_ENST00000356175.3_Missense_Mutation_p.L2583I|NF1_ENST00000444181.2_Missense_Mutation_p.L397I|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	46	90	0	124	2604					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?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		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)		ATCAAATGTTCTCTTGGATGA	0.423000			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)			1	1	1	1	1	1	1.000000	47	99	0	127	1	9.915947e-01	10	9	0	127	5
CCT6B	10693	broad.mit.edu	37	17	33269503	33269503	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:33269503C>A	ENST00000314144.5	-	7	1000	c.885_splice	c.e7+1	p.K295_splice	CCT6B_ENST00000436961.3_Splice_Site_p.K250_splice|CCT6B_ENST00000421975.3_Splice_Site_p.K258_splice	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	10	13	0	17	295					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TCTTTCTCACCTTTTGATTAA	0.323000													1	1	1	1	0	1	0.998784	10	14	0	19	0	0	0	0	0	19	4
SLFN11	91607	broad.mit.edu	37	17	33679887	33679887	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:33679887G>A	ENST00000394566.1	-	7	2466	c.2194C>T	c.(2194-2196)Cgc>Tgc	p.R732C	SLFN11_ENST00000308377.4_Missense_Mutation_p.R732C	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	46	92	0	127	732						nucleus	ATP binding	p.R732C(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGCATTGCGAACTATTCTG	0.443000													1	1	1	1	1	1	1.000000	50	101	0	138	1	1	59	74	0	138	5
SLFN11	91607	broad.mit.edu	37	17	33690361	33690361	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:33690361T>G	ENST00000394566.1	-	4	738	c.466A>C	c.(466-468)Agg>Cgg	p.R156R	SLFN11_ENST00000308377.4_Silent_p.R156R	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	38	72	0	97	156						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTTGGCTTCCTTTTGGTCTTC	0.483000													1	1	1	1	1	1	1.000000	42	74	0	102	1	9.999997e-01	28	20	0	102	5
SLFN13	146857	broad.mit.edu	37	17	33772094	33772094	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:33772094T>G	ENST00000285013.6	-	3	881	c.606A>C	c.(604-606)gaA>gaC	p.E202D	SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.E202D|SLFN13_ENST00000526861.1_Missense_Mutation_p.E202D|SLFN13_ENST00000542635.1_Missense_Mutation_p.E202D|SLFN13_ENST00000534689.1_Intron	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	12	92	0	80	202						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGATAGGATTTCACCATATT	0.343000													1	1	0	1	1	1	0.999300	12	96	0	85	1	8.640226e-01	8	23	0	85	4
TAF15	8148	broad.mit.edu	37	17	34163181	34163181	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34163181G>T	ENST00000588240.1	+	10	834	c.719G>T	c.(718-720)gGa>gTa	p.G240V	TAF15_ENST00000311979.3_Missense_Mutation_p.G237V|TAF15_ENST00000592237.1_Missense_Mutation_p.G149V	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	16	24	0	41	240	RRM.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTTGTGCAAGGACTTGGGGAG	0.318000			T	TEC, CHN1, ZNF384	extraskeletal myxoid chondrosarcomas, ALL								1	1	1	1	1	1	1.000000	20	27	0	54	1	1	183	223	0	54	5
C17orf66	256957	broad.mit.edu	37	17	34182689	34182689	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34182689G>A	ENST00000311880.2	-	14	1492	c.1344C>T	c.(1342-1344)aaC>aaT	p.N448N	C17orf66_ENST00000592980.1_Silent_p.N408N	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	30	67	0	65	448							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CAGCCTGGTGGTTTTCTGCAT	0.527000													1	1	1	1	1	1	1.000000	33	74	0	74	0	0	0	0	0	74	5
MYO19	80179	broad.mit.edu	37	17	34854398	34854398	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34854398T>C	ENST00000431794.3	-	25	2991	c.2469A>G	c.(2467-2469)agA>agG	p.R823R	MYO19_ENST00000268852.9_Silent_p.R623R|ZNHIT3_ENST00000588253.1_3'UTR	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	11	16	0	27	823						mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGCAGGCCATTCTGATCTTAA	0.428000													1	1	1	1	1	1	0.999743	12	16	0	28	1	1	51	49	0	28	5
MRM1	79922	broad.mit.edu	37	17	34958728	34958728	+	Silent	SNP	G	G	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34958728G>C	ENST00000250156.7	+	1	728	c.489G>C	c.(487-489)ctG>ctC	p.L163L	MRM1_ENST00000585770.1_Intron	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	23	32	0	49	163					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GGGCTGTGCTGCGTTCCGCAC	0.622000													1	1	1	1	1	1	1.000000	24	36	0	50	1	9.999844e-01	17	18	0	50	5
MRM1	79922	broad.mit.edu	37	17	34959070	34959070	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:34959070T>G	ENST00000250156.7	+	2	870	c.631T>G	c.(631-633)Tta>Gta	p.L211V	MRM1_ENST00000585770.1_Missense_Mutation_p.L16V	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	4	77	0	96	211					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CACCGGATTTTTACAGGTAAT	0.582000											OREG0024338	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	1	0	0	1	0.892071	4	80	0	99	1	3.952712e-01	2	22	0	99	1
GPR179	440435	broad.mit.edu	37	17	36482602	36482602	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:36482602C>A	ENST00000342292.4	-	11	6870	c.6850G>T	c.(6850-6852)Gat>Tat	p.D2284Y	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	62	107	0	162	2284						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AAGAAGTGATCCAGAGGCCCA	0.493000													1	1	1	1	1	1	1.000000	69	114	0	180	0	0	0	0	0	180	5
PIP4K2B	8396	broad.mit.edu	37	17	36933975	36933975	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:36933975T>G	ENST00000269554.3	-	7	1252	c.772A>C	c.(772-774)Aag>Cag	p.K258Q	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	35	62	0	105	258	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			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGGAAGTTCTTTTTACTCTCC	0.473000													1	1	1	1	1	1	1.000000	40	68	0	124	1	9.998508e-01	14	14	0	124	5
MED1	5469	broad.mit.edu	37	17	37564014	37564014	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:37564014C>T	ENST00000300651.6	-	17	4683	c.4460G>A	c.(4459-4461)cGa>cAa	p.R1487Q	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	15	24	0	56	1487					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			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		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)		TGGAAGTGGTCGGATACCATC	0.458000										HNSCC(31;0.082)			1	1	1	1	1	1	0.999967	15	25	0	59	1	9.968684e-01	7	14	0	59	5
STARD3	0	broad.mit.edu	37	17	37814703	37814703	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:37814703T>G	ENST00000336308.5	+	6	693	c.475T>G	c.(475-477)Ttt>Gtt	p.F159V	STARD3_ENST00000580611.1_Missense_Mutation_p.F133V|STARD3_ENST00000394250.4_Missense_Mutation_p.F141V|STARD3_ENST00000544210.2_Silent_p.L154L|STARD3_ENST00000578232.1_3'UTR	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	21	34	0	63	159	MENTAL.				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	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)			CATCGTCTCTTTTGTCCTCGC	0.602000													1	1	1	1	1	1	1.000000	21	38	0	67	1	1	51	70	0	67	5
WIPF2	147179	broad.mit.edu	37	17	38421170	38421170	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:38421170C>T	ENST00000323571.4	+	5	982	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	WIPF2_ENST00000583130.1_Silent_p.L248L|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Silent_p.L248L|WIPF2_ENST00000394103.3_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	14	224	0	245	248						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TGGCCAGTCTCTGGCTCCTCC	0.602000										HNSCC(43;0.11)			1	1	1	1	1	1	0.999779	14	233	0	258	1	4.420086e-01	4	20	0	258	5
CDC6	990	broad.mit.edu	37	17	38458221	38458221	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:38458221A>C	ENST00000209728.4	+	12	2122	c.1651A>C	c.(1651-1653)Att>Ctt	p.I551L		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	20	47	0	48	551					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			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TAAAGCTTTAATTGGAAATAT	0.368000													1	1	1	1	1	1	1.000000	24	51	0	53	1	9.999948e-01	23	28	0	53	5
KRT24	192666	broad.mit.edu	37	17	38859658	38859658	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:38859658G>T	ENST00000264651.2	-	1	344	c.288C>A	c.(286-288)gtC>gtA	p.V96V		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	85	160	0	291	96	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CAAATCCAGAGACCCCGCCAA	0.567000													1	1	1	1	1	1	1.000000	91	185	0	335	0	0	0	0	0	335	5
KRTAP1-1	81851	broad.mit.edu	37	17	39197617	39197617	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39197617A>C	ENST00000306271.4	-	1	96	c.33T>G	c.(31-33)ttT>ttG	p.F11L		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	24	61	0	76	11						extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCAGCTGGGAAATCCACAGA	0.582000													1	1	1	1	1	1	1.000000	24	62	0	79	0	0	0	0	0	79	5
KRTAP9-4	85280	broad.mit.edu	37	17	39406152	39406152	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39406152C>T	ENST00000334109.2	+	1	214	c.180C>T	c.(178-180)acC>acT	p.T60T		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	52	106	0	133	60	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTCAAAACACCTGCTGCCAGC	0.642000													1	1	1	1	1	1	1.000000	54	109	0	133	0	0	0	0	0	133	5
KRT33B	3884	broad.mit.edu	37	17	39521451	39521451	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39521451G>A	ENST00000251646.3	-	5	901	c.852C>T	c.(850-852)atC>atT	p.I284I		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	53	103	0	146	284	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CCTGCAGCTCGATCTCCAGGG	0.597000													1	1	1	1	1	1	1.000000	60	114	0	148	0	0	0	0	0	148	5
KRT19	3880	broad.mit.edu	37	17	39681143	39681143	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39681143G>A	ENST00000361566.3	-	3	672	c.612C>T	c.(610-612)atC>atT	p.I204I		NM_002276.4	NP_002267.2			keratin 19	60	93	0	136									p.L195fs*3(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TCAGGCCTTCGATCTGCATCT	0.607000													1	1	1	1	1	1	1.000000	64	98	0	142	1	1	2023	2159	0	142	5
FKBP10	60681	broad.mit.edu	37	17	39978543	39978543	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:39978543G>T	ENST00000321562.4	+	10	1736	c.1632G>T	c.(1630-1632)gaG>gaT	p.E544D	FKBP10_ENST00000544340.1_Missense_Mutation_p.E317D	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	7	21	0	24	544	EF-hand 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AGGACCCTGAGAAAACCATAG	0.602000													1	1	1	1	1	1	0.985528	7	21	0	29	1	1	138	252	0	29	5
KLHL10	317719	broad.mit.edu	37	17	40001831	40001831	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40001831A>G	ENST00000293303.4	+	3	1291	c.1138A>G	c.(1138-1140)Agt>Ggt	p.S380G		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	6	81	0	83	380						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TTGCTATGTCAGTGTGACAGT	0.453000													1	0	1	1	0	1	0.982003	7	85	0	88	0	0	0	0	0	88	3
ACLY	47	broad.mit.edu	37	17	40063734	40063734	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40063734G>A	ENST00000352035.2	-	7	838	c.708C>T	c.(706-708)atC>atT	p.I236I	ACLY_ENST00000590151.1_Silent_p.I236I|ACLY_ENST00000393896.2_Silent_p.I236I|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Silent_p.I236I	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	35	69	0	106	236					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		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GAGGGAACTCGATGTCACCCC	0.587000													1	1	1	1	1	1	1.000000	43	75	0	120	1	1	41	18	0	120	5
WNK4	65266	broad.mit.edu	37	17	40947053	40947053	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40947053T>C	ENST00000246914.5	+	14	2635	c.2614T>C	c.(2614-2616)Ttt>Ctt	p.F872L		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	55	82	0	125	872					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CACACCCGAGTTTCCGGTCCC	0.567000													1	1	1	1	1	1	1.000000	58	86	0	128	1	9.780427e-01	3	9	0	128	5
CNTD1	124817	broad.mit.edu	37	17	40956314	40956314	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:40956314C>A	ENST00000588408.1	+	3	593	c.317C>A	c.(316-318)tCt>tAt	p.S106Y	CNTD1_ENST00000588527.1_Missense_Mutation_p.S23Y	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	28	69	0	98	106	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAGAGAGAGTCTCAGAATTGG	0.458000													1	1	1	1	1	1	1.000000	31	73	0	105	0	0	0	0	0	105	5
G6PC3	92579	broad.mit.edu	37	17	42152412	42152412	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42152412C>A	ENST00000269097.4	+	4	723	c.492C>A	c.(490-492)atC>atA	p.I164I		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	49	118	0	208	164					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GAATCTTCATCTTAGCACATT	0.552000													1	1	1	1	1	1	1.000000	54	130	0	228	1	1	48	81	0	228	5
C17orf53	78995	broad.mit.edu	37	17	42225299	42225299	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42225299G>T	ENST00000319977.4	+	3	365	c.128G>T	c.(127-129)aGa>aTa	p.R43I	C17orf53_ENST00000585683.1_Missense_Mutation_p.R43I|C17orf53_ENST00000245382.6_Missense_Mutation_p.R43I	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	6	86	0	95	43										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGGCGCCTGAGACCTGTCTCT	0.572000													1	0	1	1	0	1	0.966410	6	100	0	105	0	9.624685e-02	1	7	0	105	3
ASB16	92591	broad.mit.edu	37	17	42255579	42255579	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42255579G>A	ENST00000293414.1	+	5	1267	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000588785.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	7	26	0	27	395					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTAGGAGCACGAAGCCTTCTA	0.637000													1	1	1	1	1	1	0.992009	8	31	0	33	0	3.895780e-01	0	2	0	33	5
TMUB2	79089	broad.mit.edu	37	17	42268132	42268132	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42268132G>A	ENST00000319511.6	+	3	1456	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000357984.3_Missense_Mutation_p.R269Q|TMUB2_ENST00000446571.3_Missense_Mutation_p.R232Q|TMUB2_ENST00000589785.1_Missense_Mutation_p.R269Q|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000538716.2_Missense_Mutation_p.R289Q|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000587989.1_Missense_Mutation_p.R289Q	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	37	85	0	87	289						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGGTACTTCCGAATCAATTAC	0.547000													1	0	1	1	1	1	1.000000	38	87	0	87	1	1	28	52	0	87	4
RUNDC3A	10900	broad.mit.edu	37	17	42392102	42392102	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42392102G>T	ENST00000426726.3	+	5	732		c.e5-1		RUNDC3A_ENST00000590941.1_Splice_Site|RUNDC3A_ENST00000225441.7_Splice_Site|AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	16	21	0	43						small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCTCCCCACAGACGGTTCTAT	0.632000													1	1	1	1	0	1	0.999998	18	21	0	45	1	9.795970e-01	8	0	0	45	4
ITGA2B	3674	broad.mit.edu	37	17	42466810	42466810	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42466810A>G	ENST00000262407.5	-	1	63	c.32T>C	c.(31-33)cTc>cCc	p.L11P	ITGA2B_ENST00000353281.4_Missense_Mutation_p.L11P	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	22	47	0	79	11					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAGAAGCCAGAGGGCTTGCAG	0.602000													1	1	1	1	1	1	1.000000	24	50	0	87	0	0	0	0	0	87	5
C17orf104	284071	broad.mit.edu	37	17	42745125	42745125	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42745125C>T	ENST00000409122.2	+	5	1988	c.1846C>T	c.(1846-1848)Cat>Tat	p.H616Y	C17orf104_ENST00000359945.3_Missense_Mutation_p.H616Y|C17orf104_ENST00000409464.1_Missense_Mutation_p.H450Y	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	3	21	0	26	616										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CCAGAGTGGACATTATGATCC	0.383000													0	0	1	0	0	1	0.812891	3	22	0	27	1	1.187739e-01	3	1	0	27	1
GJC1	10052	broad.mit.edu	37	17	42882757	42882757	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:42882757C>A	ENST00000426548.1	-	3	698	c.429G>T	c.(427-429)gaG>gaT	p.E143D	GJC1_ENST00000592524.1_Missense_Mutation_p.E143D|GJC1_ENST00000330514.4_Missense_Mutation_p.E143D|GJC1_ENST00000590758.1_Missense_Mutation_p.E143D	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	10	137	0	121	143					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CTAACTCCATCTCTGGATACA	0.498000													1	1	1	1	0	1	0.997184	10	144	0	127	0	2.603174e-01	0	14	0	127	4
CRHR1	1394	broad.mit.edu	37	17	43906647	43906647	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:43906647G>A	ENST00000314537.5	+	5	619	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000398285.3_Missense_Mutation_p.V132M|CRHR1_ENST00000339069.5_Missense_Mutation_p.V31M|CRHR1_ENST00000352855.5_Missense_Mutation_p.V92M|CRHR1_ENST00000577353.1_Missense_Mutation_p.V132M	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	5	29	0	21	132					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.V132L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TATCTCCCTGGTGGCCCTCCT	0.587000													1	0	1	1	1	1	0.969424	6	31	0	23	0	0	0	0	0	23	4
KANSL1	284058	broad.mit.edu	37	17	44127980	44127980	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:44127980C>T	ENST00000262419.6	-	7	2409	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	KANSL1_ENST00000575318.1_Missense_Mutation_p.E647K|KANSL1_ENST00000393476.3_Missense_Mutation_p.E4K|KANSL1_ENST00000572904.1_Missense_Mutation_p.E647K|KANSL1_ENST00000574590.1_Missense_Mutation_p.E647K|KANSL1_ENST00000432791.1_Missense_Mutation_p.E647K	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	19	29	0	35	647						MLL1 complex	protein binding										TAGTGAATTTCGGGAGGCATG	0.502000													1	1	1	1	1	1	0.999999	20	30	0	37	1	9.999271e-01	10	21	0	37	5
CDC27	996	broad.mit.edu	37	17	45258949	45258949	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45258949C>T	ENST00000066544.3	-	2	175	c.82G>A	c.(82-84)Gca>Aca	p.A28T	CDC27_ENST00000527547.1_Missense_Mutation_p.A28T|CDC27_ENST00000531206.1_Missense_Mutation_p.A28T|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Missense_Mutation_p.R16H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	5	12	0	17	28					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	p.A28T(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGGCGTTCTGCGAGGAAAACC	0.348000													1	1	1	1	1	1	0.947080	5	14	0	22	1	9.470799e-01	9	10	0	22	5
EFCAB13	124989	broad.mit.edu	37	17	45452066	45452066	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45452066T>G	ENST00000331493.2	+	12	1517	c.1106T>G	c.(1105-1107)tTt>tGt	p.F369C	EFCAB13_ENST00000517484.1_Missense_Mutation_p.F273C	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13	20	38	0	43																		ATAAGAAAATTTCTGGGTGGG	0.318000													1	1	1	1	1	1	1.000000	23	41	0	48	1	4.599763e-01	3	1	0	48	5
EFCAB13	124989	broad.mit.edu	37	17	45455157	45455157	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:45455157A>C	ENST00000331493.2	+	13	1809	c.1398A>C	c.(1396-1398)aaA>aaC	p.K466N	EFCAB13_ENST00000517484.1_Missense_Mutation_p.K370N	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13	16	30	0	19																		CTATCAGTAAACTTCAAGAAA	0.303000													1	1	1	1	1	1	0.999980	16	33	0	21	0	0	1	0	0	21	5
PNPO	55163	broad.mit.edu	37	17	46022057	46022057	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:46022057C>T	ENST00000225573.4	+	3	444	c.339C>T	c.(337-339)ttC>ttT	p.F113F	PNPO_ENST00000534893.1_Silent_p.F18F|PNPO_ENST00000544840.1_Silent_p.F113F|PNPO_ENST00000434554.2_Silent_p.F113F	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	50	92	0	152	113					pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5					Pyridoxal Phosphate(DB00114)	TCACTAACTTCGAGAGTCGAA	0.507000													1	1	1	1	1	1	1.000000	54	94	0	159	1	1	26	27	0	159	5
CALCOCO2	10241	broad.mit.edu	37	17	46933497	46933497	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:46933497T>G	ENST00000258947.3	+	10	1057	c.956T>G	c.(955-957)aTt>aGt	p.I319S	CALCOCO2_ENST00000448105.2_Missense_Mutation_p.I343S|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.I277S|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.I340S|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.I247S	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	18	33	0	43	319					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GAGAACGAAATTATATGTAAT	0.378000													1	1	1	1	1	1	0.999999	20	35	0	44	1	1	47	49	0	44	5
IGF2BP1	10642	broad.mit.edu	37	17	47075230	47075230	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:47075230C>A	ENST00000290341.3	+	1	457	c.123C>A	c.(121-123)ttC>ttA	p.F41L	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.F41L|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	17	133	0	159	41	RRM 1.				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			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTACGCCTTCGTGGACTGCC	0.587000													1	1	1	1	1	1	0.999997	20	144	0	183	0	4.491904e-02	0	3	0	183	5
ZNF652	22834	broad.mit.edu	37	17	47394794	47394794	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:47394794C>A	ENST00000362063.2	-	2	612	c.294G>T	c.(292-294)gaG>gaT	p.E98D	ZNF652_ENST00000430262.2_Missense_Mutation_p.E98D	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	41	63	0	97	98	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	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)			CATCAGAATTCTCCCGGTCTT	0.428000													1	1	1	1	1	1	1.000000	46	66	0	103	1	8.981374e-01	4	4	0	103	5
DLX3	1747	broad.mit.edu	37	17	48068973	48068973	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:48068973T>C	ENST00000434704.2	-	3	997	c.772A>G	c.(772-774)Agt>Ggt	p.S258G	DLX3_ENST00000512495.2_Missense_Mutation_p.S138G	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	17	25	0	39	258						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						TGGGGTCCACTCAGGTTCTGT	0.682000													1	1	1	1	1	1	0.999997	18	29	0	46	1	6.321074e-01	2	3	0	46	5
MYCBPAP	84073	broad.mit.edu	37	17	48606124	48606124	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:48606124G>T	ENST00000323776.5	+	17	2767	c.2605G>T	c.(2605-2607)Gga>Tga	p.G869*	MYCBPAP_ENST00000436259.2_Nonsense_Mutation_p.G832*	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	15	25	0	50	832					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GGAGCGGAAAGGAGCAGCCCA	0.527000													1	1	1	1	1	1	0.999992	17	29	0	57	0	0	1	0	0	57	5
SPATA20	64847	broad.mit.edu	37	17	48625670	48625670	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:48625670G>A	ENST00000006658.6	+	3	272	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	SPATA20_ENST00000393244.3_5'UTR|SPATA20_ENST00000356488.4_Missense_Mutation_p.R35Q|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	15	23	0	43	35					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GACAAGGACCGAAGTGCGACG	0.647000													1	1	1	1	1	1	0.999965	15	26	0	49	1	1	37	44	0	49	5
CA10	56934	broad.mit.edu	37	17	49731017	49731017	+	Silent	SNP	A	A	C	rs145659285		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:49731017A>C	ENST00000451037.2	-	5	1486	c.546T>G	c.(544-546)gtT>gtG	p.V182V	CA10_ENST00000285273.4_Silent_p.V182V|CA10_ENST00000570565.1_Silent_p.V107V|CA10_ENST00000340813.6_Silent_p.V188V|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Silent_p.V182V	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	11	13	0	36	182					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TAAATATAGAAACTACCACCA	0.403000													1	1	1	1	1	1	0.999775	12	14	0	39	0	0	0	0	0	39	5
TRIM25	7706	broad.mit.edu	37	17	54978869	54978869	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:54978869A>G	ENST00000316881.4	-	4	1047	c.998T>C	c.(997-999)cTg>cCg	p.L333P	TRIM25_ENST00000537230.1_Missense_Mutation_p.L333P	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	89	232	0	345	333	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			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					GCCTTTTATCAGCTTGTGGTT	0.542000													1	1	1	1	1	1	1.000000	108	256	0	391	1	9.999798e-01	22	19	0	391	5
MSI2	0	broad.mit.edu	37	17	55478757	55478757	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:55478757G>T	ENST00000284073.2	+	6	539	c.330G>T	c.(328-330)aaG>aaT	p.K110N	MSI2_ENST00000416426.2_Missense_Mutation_p.K88N|MSI2_ENST00000322684.3_Missense_Mutation_p.K106N|MSI2_ENST00000442934.2_Missense_Mutation_p.K49N|MSI2_ENST00000579180.1_Missense_Mutation_p.K6N	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	29	49	0	84	110	RRM 1.|RRM 2.					cytoplasm	nucleotide binding|RNA binding	p.K106K(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CAAGAACAAAGAAAATATTTG	0.448000			T	HOXA9	CML								1	1	1	1	1	1	1.000000	30	55	0	94	1	9.901837e-01	6	11	0	94	5
SRSF1	6426	broad.mit.edu	37	17	56084470	56084470	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56084470G>A	ENST00000582730.2	-	1	152	c.29C>T	c.(28-30)cCc>cTc	p.P10L	SRSF1_ENST00000258962.4_Missense_Mutation_p.P10L|SRSF1_ENST00000584773.1_Missense_Mutation_p.P10L|SRSF1_ENST00000585096.1_Missense_Mutation_p.P10L	NM_001078166.1	NP_001071634.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	7	80	0	79	10					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			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCCCTGCGGGGCCACGAAT	0.597000													1	1	1	1	1	1	0.990417	8	86	0	92	1	9.983878e-01	19	119	0	92	5
SEPT4	5414	broad.mit.edu	37	17	56598957	56598957	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56598957G>T	ENST00000457347.2	-	9	1155	c.1011C>A	c.(1009-1011)gaC>gaA	p.D337E	SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Missense_Mutation_p.D314E|SEPT4_ENST00000580844.1_Missense_Mutation_p.D223E|SEPT4_ENST00000580809.1_3'UTR|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000393086.1_Missense_Mutation_p.D303E|SEPT4_ENST00000317268.3_Missense_Mutation_p.D322E|SEPT4_ENST00000583114.1_Missense_Mutation_p.D175E|SEPT4_ENST00000579371.1_Missense_Mutation_p.D223E|SEPT4_ENST00000317256.6_Missense_Mutation_p.D303E	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN	septin 4	21	48	0	62	322					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGAGTCACAGTCTGGGAATT	0.493000													1	1	1	1	1	1	1.000000	23	52	0	68	1	9.322605e-01	5	8	0	68	5
SEPT4	5414	broad.mit.edu	37	17	56604289	56604289	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56604289G>A	ENST00000426861.1	-	2	140	c.54C>T	c.(52-54)ttC>ttT	p.F18F	SEPT4_ENST00000412945.3_Silent_p.F29F|SEPT4_ENST00000580844.1_Intron|SEPT4_ENST00000580809.1_Intron|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000457347.2_Silent_p.F52F|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000393086.1_Silent_p.F18F|SEPT4_ENST00000317268.3_Silent_p.F37F|SEPT4_ENST00000583114.1_5'UTR|SEPT4_ENST00000580791.1_5'UTR|SEPT4_ENST00000579371.1_Intron|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000317256.6_Silent_p.F18F	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN	septin 4	41	68	0	107	37					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	p.F37F(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATCCTTCACGAACTTGCTCA	0.617000													1	1	1	1	1	1	1.000000	41	70	0	114	0	3.133067e-01	0	3	0	114	5
C17orf47	284083	broad.mit.edu	37	17	56620179	56620179	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56620179G>T	ENST00000321691.3	-	1	1550	c.1369C>A	c.(1369-1371)Ctt>Att	p.L457I	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	85	157	0	221	457										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACAATAAAAGATCTAGGGAA	0.478000													1	1	1	1	1	1	1.000000	87	165	0	234	0	0	0	0	0	234	5
TEX14	56155	broad.mit.edu	37	17	56682459	56682459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:56682459G>A	ENST00000389934.3	-	11	1333	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	TEX14_ENST00000349033.5_Nonsense_Mutation_p.R406*|TEX14_ENST00000240361.8_Nonsense_Mutation_p.R412*	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	21	38	0	29	412	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGGGCACTCGAGTCAGGTCC	0.478000													1	1	1	1	1	1	1.000000	21	40	0	30	0	0	0	0	0	30	5
TRIM37	4591	broad.mit.edu	37	17	57106003	57106003	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57106003C>A	ENST00000376149.3	-	19	2473	c.1664G>T	c.(1663-1665)aGa>aTa	p.R555I	TRIM37_ENST00000393065.2_Missense_Mutation_p.R643I|TRIM37_ENST00000393066.3_Missense_Mutation_p.R677I|TRIM37_ENST00000262294.7_Missense_Mutation_p.R677I			O94972	TRI37_HUMAN	tripartite motif containing 37	22	33	0	54	677						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGTTTTGAGTCTTTTTAGCAT	0.393000									Mulibrey Nanism				1	1	1	1	1	1	1.000000	23	37	0	58	1	9.999964e-01	19	24	0	58	5
SKA2	348235	broad.mit.edu	37	17	57196697	57196697	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57196697T>C	ENST00000330137.7	-	3	385	c.280A>G	c.(280-282)Aag>Gag	p.K94E	SKA2_ENST00000583927.1_Intron|SKA2_ENST00000578105.1_Missense_Mutation_p.K65E|SKA2_ENST00000581068.1_Intron|SKA2_ENST00000580541.1_Intron|SKA2_ENST00000583380.1_Missense_Mutation_p.K94E|SKA2_ENST00000437036.2_Intron	NM_182620.3	NP_872426.1	Q8WVK7	SKA2_HUMAN	spindle and kinetochore associated complex subunit 2	15	32	0	40	94					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			lung(4)	4						TCTGTTTGCTTCTGTAGTTTT	0.378000													1	1	1	1	1	1	0.999956	15	33	0	44	1	1	147	62	0	44	5
SMG8	55181	broad.mit.edu	37	17	57288858	57288858	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57288858T>C	ENST00000543872.2	+	2	1710	c.1446T>C	c.(1444-1446)atT>atC	p.I482I	SMG8_ENST00000578922.1_Silent_p.I482I|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Silent_p.I482I|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	27	48	0	47	482					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TAAGCAGTATTAAAGTCTTGG	0.423000													1	1	1	1	1	1	1.000000	28	50	0	49	1	9.964943e-01	8	12	0	49	5
CLTC	1213	broad.mit.edu	37	17	57724861	57724861	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57724861C>T	ENST00000269122.3	+	3	627	c.353C>T	c.(352-354)aCg>aTg	p.T118M	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.T118M	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	10	74	0	79	118	Globular terminal domain.				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)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCTTTGAATACGGTTGCTCTT	0.403000			T	ALK, TFE3	ALCL, renal								1	1	1	1	1	1	0.997434	10	78	0	91	1	9.868808e-01	10	53	0	91	5
TUBD1	51174	broad.mit.edu	37	17	57958404	57958404	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:57958404A>C	ENST00000325752.3	-	4	665	c.388T>G	c.(388-390)Tgt>Ggt	p.C130G	TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.C130G|TUBD1_ENST00000592426.1_Missense_Mutation_p.C130G|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.C130G|TUBD1_ENST00000394239.3_Missense_Mutation_p.C130G|TUBD1_ENST00000591611.1_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	53	85	0	127	130					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			AAAGAGTCACATTTCTCCACT	0.403000													1	1	1	1	1	1	1.000000	57	90	0	133	1	8.754980e-01	2	6	0	133	5
HEATR6	63897	broad.mit.edu	37	17	58136792	58136792	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58136792G>A	ENST00000184956.6	-	11	1730	c.1714C>T	c.(1714-1716)Cgc>Tgc	p.R572C	HEATR6_ENST00000585976.1_Missense_Mutation_p.R572C	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	20	46	0	60	572							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	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)			CCTTTGTGGCGAATATAAGGC	0.348000													1	1	1	1	1	1	1.000000	24	47	0	70	1	9.974701e-01	10	13	0	70	5
HEATR6	63897	broad.mit.edu	37	17	58137338	58137338	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58137338G>A	ENST00000184956.6	-	10	1552	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	HEATR6_ENST00000585976.1_Silent_p.I512I	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	82	153	0	214	512							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	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)			TGCTGCAAGCGATCATTACGG	0.443000													1	1	1	1	1	1	1.000000	86	162	0	225	1	7.590759e-01	5	2	0	225	5
HEATR6	63897	broad.mit.edu	37	17	58137400	58137400	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58137400G>T	ENST00000184956.6	-	10	1490	c.1474C>A	c.(1474-1476)Ctt>Att	p.L492I	HEATR6_ENST00000585976.1_Missense_Mutation_p.L492I	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	21	128	0	123	492							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	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)			GCAACAGAAAGAAACTGCTTT	0.433000													1	1	1	1	1	1	1.000000	23	133	0	130	1	6.393401e-01	2	12	0	130	5
HEATR6	63897	broad.mit.edu	37	17	58153597	58153597	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58153597T>C	ENST00000184956.6	-	2	237	c.219_splice	c.e2-1	p.D74_splice	HEATR6_ENST00000585976.1_Splice_Site_p.D74_splice	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	9	22	0	27	74							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	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)			AGCACTAACGTCCTACCAAAA	0.368000													1	1	1	1	1	1	0.996086	9	30	0	28	0	2.564622e-01	1	3	0	28	5
APPBP2	10513	broad.mit.edu	37	17	58525055	58525055	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58525055G>A	ENST00000083182.3	-	13	1932	c.1645C>T	c.(1645-1647)Cgg>Tgg	p.R549W		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	53	119	0	161	549					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GAATATTGCCGATCTCGCAAC	0.443000													1	1	1	1	1	1	1.000000	60	137	0	183	1	9.998832e-01	14	21	0	183	5
BCAS3	54828	broad.mit.edu	37	17	58824611	58824611	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:58824611C>T	ENST00000589222.1	+	6	442	c.374C>T	c.(373-375)gCg>gTg	p.A125V	BCAS3_ENST00000407086.3_Missense_Mutation_p.A125V|BCAS3_ENST00000390652.5_Missense_Mutation_p.A125V|BCAS3_ENST00000588462.1_Missense_Mutation_p.A125V|BCAS3_ENST00000408905.3_Missense_Mutation_p.A125V			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	45	87	0	115	125						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCAATTCGAGCGGCTAGAATC	0.428000													1	1	1	1	1	1	1.000000	54	99	0	141	1	7.684169e-01	3	4	0	141	5
TBX2	6909	broad.mit.edu	37	17	59485502	59485502	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:59485502G>A	ENST00000240328.3	+	7	2055	c.1774G>A	c.(1774-1776)Gcc>Acc	p.A592T	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	17	16	0	49	592	Ala-rich.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						ggctttgcccgccactagtgc	0.672000													1	1	0	1	0	1	1.000000	22	33	0	53	1	9.998436e-01	13	16	0	53	3
TBX4	9496	broad.mit.edu	37	17	59560407	59560407	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:59560407G>T	ENST00000393853.4	+	9	1334	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	TBX4_ENST00000240335.1_Nonsense_Mutation_p.E390*|TBX4_ENST00000589449.1_3'UTR			P57082	TBX4_HUMAN	T-box 4	28	54	0	67	390					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACCCCCAGAGAAGCATGTAT	0.607000													1	1	1	1	1	1	1.000000	31	57	0	80	0	0	0	0	0	80	5
BRIP1	83990	broad.mit.edu	37	17	59886056	59886056	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:59886056C>T	ENST00000259008.2	-	7	957	c.690G>A	c.(688-690)tcG>tcA	p.S230S	BRIP1_ENST00000577598.1_Silent_p.S230S	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	23	38	0	50	230	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			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TAATGGTATTCGATGACTCTT	0.408000			F, N, Mis			AML, leukemia, breast		Involved in tolerance or repair of DNA crosslinks					1	1	1	1	1	1	1.000000	23	41	0	56	0	0	0	1	0	56	5
MED13	9969	broad.mit.edu	37	17	60040120	60040120	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:60040120G>A	ENST00000397786.2	-	21	5133	c.5057C>T	c.(5056-5058)tCt>tTt	p.S1686F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	20	47	0	53	1686					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(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TACCTGTACAGAAACAGTACT	0.368000													1	1	1	1	1	1	0.999999	21	51	0	56	1	9.904846e-01	12	10	0	56	5
TANC2	26115	broad.mit.edu	37	17	61497761	61497761	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61497761C>A	ENST00000424789.2	+	25	4422	c.4418C>A	c.(4417-4419)tCt>tAt	p.S1473Y	TANC2_ENST00000389520.4_Missense_Mutation_p.S1483Y|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	33	53	0	66	1473							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCCAGTAGTTCTGTAGGCTCT	0.552000													1	1	1	1	1	1	1.000000	36	60	0	77	1	8.008118e-01	3	4	0	77	5
ACE	1636	broad.mit.edu	37	17	61555323	61555323	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61555323C>T	ENST00000290866.4	+	2	305	c.281C>T	c.(280-282)gCg>gTg	p.A94V	ACE_ENST00000538928.1_Missense_Mutation_p.A94V|ACE_ENST00000428043.1_Missense_Mutation_p.A94V|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	7	14	0	14	94	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			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					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)	CAGGAGTTTGCGGAGGCCTGG	0.617000													1	1	1	1	1	1	0.997155	9	15	0	17	1	9.489089e-01	2	10	0	17	5
ACE	1636	broad.mit.edu	37	17	61571794	61571794	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61571794G>T	ENST00000577647.1	+	11	1666	c.1621G>T	c.(1621-1623)Gcc>Tcc	p.A541S	ACE_ENST00000290866.4_Missense_Mutation_p.A1115S|ACE_ENST00000421982.2_Missense_Mutation_p.A361S|ACE_ENST00000490216.2_Missense_Mutation_p.A541S|ACE_ENST00000290863.6_Missense_Mutation_p.A541S|ACE_ENST00000428043.1_Missense_Mutation_p.A1115S|ACE_ENST00000413513.3_Missense_Mutation_p.A541S			P12821	ACE_HUMAN	angiotensin I converting enzyme	11	25	0	43	1115	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			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					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)	TGACCCAGGGGCCAAGTTCCA	0.547000													1	1	1	1	1	1	0.999808	13	29	0	47	0	9.979017e-01	1	28	0	47	5
KCNH6	81033	broad.mit.edu	37	17	61601590	61601590	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:61601590G>A	ENST00000583023.1	+	2	178	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	KCNH6_ENST00000314672.5_Missense_Mutation_p.R56Q|KCNH6_ENST00000580652.1_Missense_Mutation_p.R56Q|KCNH6_ENST00000581784.1_Missense_Mutation_p.R56Q|KCNH6_ENST00000456941.2_Missense_Mutation_p.R56Q	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	71	125	0	208	56	PAS.				regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GGCTACTCCCGAGTGGAGGTG	0.617000													1	1	1	1	1	1	1.000000	78	139	0	223	0	0	0	0	0	223	5
SCN4A	6329	broad.mit.edu	37	17	62021173	62021173	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62021173T>G	ENST00000435607.1	-	22	4026	c.3950A>C	c.(3949-3951)aAg>aCg	p.K1317T	SCN4A_ENST00000578147.1_Missense_Mutation_p.K1317T	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	12	25	0	42	1317					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ATAGTATTTCTTCTGTTCCTC	0.547000													1	1	1	1	1	1	0.999808	13	29	0	50	1	2.444005e-01	2	1	0	50	5
SCN4A	6329	broad.mit.edu	37	17	62034759	62034759	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62034759G>A	ENST00000435607.1	-	13	2215	c.2139C>T	c.(2137-2139)atC>atT	p.I713I	SCN4A_ENST00000578147.1_Silent_p.I713I	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	24	53	0	59	713					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CCACGGCGAAGATGAACACGA	0.557000													1	1	1	1	1	1	1.000000	25	56	0	63	0	0	0	0	0	63	5
CEP95	90799	broad.mit.edu	37	17	62518818	62518818	+	Splice_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62518818A>C	ENST00000556440.2	+	8	1225		c.e8-1		CEP95_ENST00000553412.1_Splice_Site	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	20	33	0	46							centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						TTGTCTTACTAGCGGAAACCC	0.388000													1	1	1	1	1	1	1.000000	22	36	0	49	1	9.736985e-01	13	0	0	49	5
CEP95	90799	broad.mit.edu	37	17	62530763	62530763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:62530763C>T	ENST00000556440.2	+	17	2488	c.1978C>T	c.(1978-1980)Cga>Tga	p.R660*	CEP95_ENST00000553412.1_Nonsense_Mutation_p.R496*	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	3	24	0	27	660						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AAAAGAAAATCGACAGCAAAT	0.413000													0	1	1	0	1	1	0.894938	4	26	0	28	1	9.796997e-01	21	35	0	28	3
CEP112	201134	broad.mit.edu	37	17	64001835	64001835	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:64001835T>C	ENST00000392769.2	-	17	1927	c.1709A>G	c.(1708-1710)aAa>aGa	p.K570R	CEP112_ENST00000541355.1_Missense_Mutation_p.K205R|CEP112_ENST00000537949.1_Missense_Mutation_p.K528R|CEP112_ENST00000535342.2_Missense_Mutation_p.K570R	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	8	16	0	10	570						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TTTATGAATTTTCTTTTGAGT	0.323000													0	1	1	1	1	1	0.999379	11	17	0	11	1	9.469204e-01	4	7	0	11	4
NOL11	25926	broad.mit.edu	37	17	65722653	65722653	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:65722653T>A	ENST00000253247.4	+	7	857	c.742T>A	c.(742-744)Tca>Aca	p.S248T	NOL11_ENST00000535137.1_Missense_Mutation_p.S66T	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	16	37	0	46	248						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	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)			CTTAGTTAAATCACTGCTGCT	0.458000													1	1	1	1	1	1	0.999977	16	39	0	49	1	9.999999e-01	47	50	0	49	5
ARSG	22901	broad.mit.edu	37	17	66303753	66303753	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:66303753T>C	ENST00000448504.2	+	2	915	c.119T>C	c.(118-120)aTt>aCt	p.I40T	ARSG_ENST00000452479.2_Intron	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	5	66	0	68	40					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			AACTTTGTGATTATTTTGGCC	0.473000													1	1	1	1	0	1	0.939687	5	72	0	71	0	1.259000e-01	1	7	0	71	4
ABCA8	10351	broad.mit.edu	37	17	66887695	66887695	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:66887695A>G	ENST00000269080.2	-	22	3096	c.2959T>C	c.(2959-2961)Ttc>Ctc	p.F987L	ABCA8_ENST00000586539.1_Missense_Mutation_p.F1027L|ABCA8_ENST00000430352.2_Missense_Mutation_p.F1027L	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	4	13	0	24	987						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACCAGCCAGAACATGATATAT	0.363000													1	0	1	1	1	1	0.947670	5	13	0	25	0	3.517787e-01	0	4	0	25	4
ABCA8	10351	broad.mit.edu	37	17	66903902	66903902	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:66903902C>A	ENST00000269080.2	-	16	2274	c.2137G>T	c.(2137-2139)Gaa>Taa	p.E713*	ABCA8_ENST00000586539.1_Nonsense_Mutation_p.E753*|ABCA8_ENST00000430352.2_Nonsense_Mutation_p.E753*	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	6	9	0	13	713						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTTGTTCTTTCTAAGGGTAAT	0.303000													0	1	1	1	1	1	0.975837	6	10	0	14	0	1.637427e-01	0	2	0	14	4
ABCA6	23460	broad.mit.edu	37	17	67111054	67111054	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67111054T>C	ENST00000284425.2	-	13	1805	c.1631A>G	c.(1630-1632)aAt>aGt	p.N544S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	15	27	0	27	544	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCAGAGAGATTTTTATTATA	0.308000													1	1	1	1	1	1	0.999958	15	31	0	29	0	0	0	1	0	29	5
ABCA5	23461	broad.mit.edu	37	17	67257334	67257334	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67257334G>A	ENST00000392676.3	-	26	3560	c.3496C>T	c.(3496-3498)Ctt>Ttt	p.L1166F	ABCA5_ENST00000392677.2_Missense_Mutation_p.L1167F|ABCA5_ENST00000588877.1_Missense_Mutation_p.L1166F			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	4	27	0	13	1166					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			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GCATAATGAAGAATAGTTGCA	0.289000													0	0	1	0	0	1	0.894387	4	30	0	13	1	2.058176e-01	2	4	0	13	1
ABCA5	23461	broad.mit.edu	37	17	67270154	67270154	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67270154G>T	ENST00000392676.3	-	20	2774	c.2710C>A	c.(2710-2712)Cct>Act	p.P904T	ABCA5_ENST00000392677.2_Missense_Mutation_p.P904T|ABCA5_ENST00000588877.1_Missense_Mutation_p.P904T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	17	43	0	55	904					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			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTGTCTCCAGGTTTTAGAAAA	0.363000													1	1	1	1	1	1	0.999995	18	44	0	56	0	0	0	0	0	56	5
ABCA5	23461	broad.mit.edu	37	17	67302906	67302906	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:67302906C>A	ENST00000392676.3	-	6	812	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	ABCA5_ENST00000392677.2_Nonsense_Mutation_p.E250*|ABCA5_ENST00000588877.1_Nonsense_Mutation_p.E250*			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	7	17	0	11	250					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			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTTAAAAATTCTTTTATTTTT	0.239000													0	0	1	1	1	1	0.993175	8	19	0	11	0	0	0	1	0	11	3
SDK2	54549	broad.mit.edu	37	17	71334925	71334925	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:71334925G>A	ENST00000392650.3	-	45	6320	c.6320C>T	c.(6319-6321)tCg>tTg	p.S2107L	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.S2088L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	15	23	0	35	2107					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGCTCACCCGAGTCGCTCTC	0.627000													1	1	1	1	1	1	0.999999	19	24	0	36	1	9.981692e-01	11	7	0	36	5
SDK2	54549	broad.mit.edu	37	17	71390374	71390374	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:71390374G>A	ENST00000392650.3	-	26	3682	c.3682C>T	c.(3682-3684)Cgc>Tgc	p.R1228C	SDK2_ENST00000388726.3_Missense_Mutation_p.R1228C	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	8	15	0	12	1228	Fibronectin type-III 7.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGCCCGTTGCGATCAGCCTCG	0.657000													0	0	1	1	1	1	0.996951	9	17	0	14	1	9.742666e-01	8	8	0	14	3
RPL38	6169	broad.mit.edu	37	17	72205359	72205359	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:72205359A>C	ENST00000311111.6	+	4	229	c.98A>C	c.(97-99)aAg>aCg	p.K33T	RPL38_ENST00000533498.1_Missense_Mutation_p.K33T|RPL38_ENST00000584577.1_Missense_Mutation_p.K33T|RPL38_ENST00000534490.1_Missense_Mutation_p.K33T|RPL38_ENST00000439590.2_Missense_Mutation_p.K33T			P63173	RL38_HUMAN	ribosomal protein L38	9	107	0	102	33					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			large_intestine(1)|pancreas(1)	2						GACAACGTGAAGTTTAAAGTT	0.458000													1	1	1	1	0	1	0.994784	9	114	0	107	1	1	288	2169	0	107	4
CD300C	10871	broad.mit.edu	37	17	72539095	72539095	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:72539095G>A	ENST00000330793.1	-	3	792	c.432C>T	c.(430-432)agC>agT	p.S144S		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	26	37	0	70	144	Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGCCCATGGAGCTCTGGGGGC	0.622000													1	1	1	1	1	1	1.000000	28	38	0	81	0	1.854220e-01	0	2	0	81	5
FDXR	2232	broad.mit.edu	37	17	72860427	72860427	+	Missense_Mutation	SNP	C	C	T	rs111830964		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:72860427C>T	ENST00000455107.2	-	10	1129	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	FDXR_ENST00000420580.2_Missense_Mutation_p.R242Q|FDXR_ENST00000581530.1_Missense_Mutation_p.R288Q|FDXR_ENST00000442102.2_Missense_Mutation_p.R325Q|FDXR_ENST00000413947.2_Missense_Mutation_p.R313Q|FDXR_ENST00000582944.1_Missense_Mutation_p.R274Q|FDXR_ENST00000544854.1_Missense_Mutation_p.R230Q|FDXR_ENST00000583917.1_Missense_Mutation_p.R254Q|FDXR_ENST00000293195.5_Missense_Mutation_p.R282Q			P22570	ADRO_HUMAN	ferredoxin reductase	15	28	0	52	282					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TGTGGCCGTTCGAAGCAGCAG	0.687000													1	0	1	1	1	1	0.999960	15	30	0	57	1	9.999917e-01	23	31	0	57	4
SEPT9	10801	broad.mit.edu	37	17	75398271	75398271	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:75398271G>T	ENST00000329047.8	+	2	965	c.153G>T	c.(151-153)aaG>aaT	p.K51N	SEPT9_ENST00000427177.1_Missense_Mutation_p.K69N|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000590294.1_Missense_Mutation_p.K51N|SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.K62N|SEPT9_ENST00000591198.1_Missense_Mutation_p.K50N|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000592420.1_5'UTR	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	26	43	0	75	69					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGGGCGTGAAGAACTCAGAAC	0.672000													1	0	1	1	1	1	1.000000	29	47	0	88	1	1	125	133	0	88	4
DNAH17	8632	broad.mit.edu	37	17	76503679	76503679	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:76503679G>A	ENST00000389840.5	-	28	4557	c.4433C>T	c.(4432-4434)gCg>gTg	p.A1478V	DNAH17_ENST00000585328.1_Missense_Mutation_p.A1479V					dynein, axonemal, heavy chain 17	22	27	0	35											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GACGGAGTCCGCCGTGGACAG	0.602000													1	1	1	1	1	1	1.000000	22	28	0	37	0	0	0	0	0	37	5
USP36	57602	broad.mit.edu	37	17	76799474	76799474	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:76799474G>A	ENST00000312010.6	-	16	3127	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	USP36_ENST00000542802.2_Missense_Mutation_p.R935W|USP36_ENST00000449938.2_Missense_Mutation_p.R540W	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	19	50	0	56	935					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TACCTGTGCCGAAGTGGGTCC	0.562000													1	1	1	1	1	1	0.999999	20	55	0	58	1	9.754795e-01	15	5	0	58	5
ENGASE	64772	broad.mit.edu	37	17	77073826	77073826	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:77073826G>A	ENST00000579016.1	+	3	296	c.296G>A	c.(295-297)cGc>cAc	p.R99H	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	33	59	0	89	99						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	p.A95_L100delAWKPRL(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGGAAGCCCCGCTTGGAGGAT	0.557000													1	1	1	1	1	1	1.000000	35	60	0	96	1	4.733860e-01	3	1	0	96	5
GAA	2548	broad.mit.edu	37	17	78078718	78078718	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:78078718C>T	ENST00000302262.3	+	2	552	c.333C>T	c.(331-333)atC>atT	p.I111I	GAA_ENST00000390015.3_Silent_p.I111I	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	15	23	0	41	111	P-type.				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			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GTTGCTACATCCCTGCAAAGC	0.647000													1	1	1	1	1	1	0.999986	16	24	0	43	1	1	37	61	0	43	5
RNF213	57674	broad.mit.edu	37	17	78353468	78353468	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:78353468A>C	ENST00000582970.1	+	55	13737	c.13594A>C	c.(13594-13596)Att>Ctt	p.I4532L	RNF213_ENST00000336301.6_Missense_Mutation_p.I2605L|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.I4581L|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	21	47	0	88	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCATGCGCCGATTGGAGGCAT	0.507000													1	1	1	1	1	1	1.000000	24	51	0	97	1	1	38	42	0	97	5
FASN	2194	broad.mit.edu	37	17	80049219	80049219	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:80049219G>A	ENST00000306749.2	-	9	1589	c.1371C>T	c.(1369-1371)atC>atT	p.I457I		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	6	16	0	18	457	Acyl and malonyl transferases (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(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	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)	GGACAGCCGCGATGTCGTTCA	0.711000													1	1	1	1	1	1	0.972704	6	16	0	18	1	9.962632e-01	16	21	0	18	5
HEXDC	284004	broad.mit.edu	37	17	80377718	80377718	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:80377718G>A	ENST00000337014.6	+	2	517	c.43G>A	c.(43-45)Gac>Aac	p.D15N	HEXDC_ENST00000327949.9_Missense_Mutation_p.D15N|HEXDC_ENST00000577944.1_Missense_Mutation_p.D15N	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	8	36	0	30	15					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGTTCATTTAGACCTTAAAGG	0.433000													1	0	1	1	1	1	0.995711	9	40	0	32	1	9.866369e-01	19	19	0	32	4
RAB40B	10966	broad.mit.edu	37	17	80617462	80617462	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:80617462G>A	ENST00000571995.1	-	4	467	c.336C>T	c.(334-336)atC>atT	p.I112I	RAB40B_ENST00000269347.6_5'UTR|RAB40B_ENST00000538809.2_Silent_p.I112I	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	19	42	0	41	112					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	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)			ATACCTCATCGATCTCCTTAA	0.562000													1	1	1	1	1	1	0.999999	20	47	0	42	1	7.945429e-01	2	7	0	42	5
CETN1	1068	broad.mit.edu	37	18	580627	580627	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:580627C>A	ENST00000327228.3	+	1	261	c.219C>A	c.(217-219)atC>atA	p.I73I		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	20	37	0	67	73	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AGAAAATGATCTCCGAGGTGG	0.552000													1	1	1	1	1	1	1.000000	22	40	0	67	0	0	0	0	0	67	5
YES1	7525	broad.mit.edu	37	18	736808	736808	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:736808C>T	ENST00000584307.1	-	10	1461	c.1291_splice	c.e10+1	p.G431_splice	YES1_ENST00000577961.1_Splice_Site_p.G436_splice|RP11-769O8.1_ENST00000583314.1_RNA|YES1_ENST00000314574.4_Splice_Site_p.G431_splice			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	5	27	0	31	431	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			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GTAATTTTACCTTGTCTTGCT	0.343000													1	0	1	1	0	1	0.969555	6	30	0	33	1	7.434813e-01	3	12	0	33	3
SMCHD1	23347	broad.mit.edu	37	18	2778221	2778221	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:2778221A>C	ENST00000320876.6	+	44	5869	c.5531A>C	c.(5530-5532)aAt>aCt	p.N1844T	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.N1844T	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	7	8	0	11	1844					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GATGCGGCCAATCATTATAGA	0.279000													0	1	1	1	1	1	0.994961	8	10	0	12	1	9.999014e-01	9	27	0	12	4
EMILIN2	84034	broad.mit.edu	37	18	2890578	2890578	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:2890578C>A	ENST00000254528.3	+	4	612	c.453C>A	c.(451-453)ttC>ttA	p.F151L		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	21	54	0	63	151					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAGCCAATTCTCAGAGCCCA	0.443000													1	1	1	1	1	1	1.000000	22	55	0	72	0	2.081106e-01	0	3	0	72	5
MYOM1	8736	broad.mit.edu	37	18	3151809	3151809	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:3151809C>T	ENST00000356443.4	-	12	2059	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	MYOM1_ENST00000261606.7_Missense_Mutation_p.E576K|MYOM1_ENST00000400569.3_Missense_Mutation_p.E576K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	20	39	0	60	576	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAACGACCTTCGATCAATCCA	0.507000											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.999999	20	40	0	63	0	0	0	0	0	63	5
PTPRM	5797	broad.mit.edu	37	18	8143718	8143718	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:8143718C>T	ENST00000332175.8	+	14	3278	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	PTPRM_ENST00000444013.1_Silent_p.I534I|PTPRM_ENST00000400053.4_Silent_p.I685I|PTPRM_ENST00000400060.4_Silent_p.I747I|PTPRM_ENST00000580170.1_Silent_p.I747I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	46	76	0	97	747					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			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTGGAGTCATCGCGGGCATCT	0.438000													1	1	1	1	1	1	1.000000	47	80	0	106	0	1.402504e-01	0	2	0	106	5
PTPRM	5797	broad.mit.edu	37	18	8406109	8406109	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:8406109T>G	ENST00000332175.8	+	31	5345	c.4308T>G	c.(4306-4308)gaT>gaG	p.D1436E	PTPRM_ENST00000444013.1_Missense_Mutation_p.D1223E|PTPRM_ENST00000400053.4_Missense_Mutation_p.D1374E|PTPRM_ENST00000400060.4_Missense_Mutation_p.D1450E|PTPRM_ENST00000580170.1_Missense_Mutation_p.D1449E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	14	31	0	43	1436	Tyrosine-protein phosphatase 2.				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			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTTTCCAGGATCAGTACAAGT	0.443000													1	1	1	1	1	1	0.999896	14	36	0	45	0	9.200427e-01	0	14	0	45	5
NDUFV2	4729	broad.mit.edu	37	18	9134277	9134277	+	Nonstop_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:9134277A>C	ENST00000400033.1	+	9	876	c.759A>C	c.(757-759)taA>taC	p.*253Y	RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000318388.6_Nonstop_Mutation_p.*250Y|RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	15	29	0	38	0					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	CAGGCCTTTAATTTATATTGA	0.403000													1	1	1	1	0	1	0.999981	16	31	0	44	1	1	76	98	0	44	4
PIEZO2	63895	broad.mit.edu	37	18	10671631	10671631	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:10671631G>A	ENST00000302079.6	-	51	7962	c.7963C>T	c.(7963-7965)Cga>Tga	p.R2655*	PIEZO2_ENST00000285141.4_Nonsense_Mutation_p.R510*|PIEZO2_ENST00000538948.1_Nonsense_Mutation_p.R675*|PIEZO2_ENST00000503781.3_Nonsense_Mutation_p.R2718*|PIEZO2_ENST00000580640.1_Nonsense_Mutation_p.R2743*			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	12	22	0	34	2718						integral to membrane	ion channel activity	p.R2718R(1)|p.R510R(1)									CCTGTCTCTCGAACTAAAAAA	0.383000													1	1	1	1	1	1	0.999648	12	23	0	38	0	0	0	0	0	38	5
SPIRE1	56907	broad.mit.edu	37	18	12512515	12512515	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:12512515G>T	ENST00000409402.4	-	5	1012	c.745C>A	c.(745-747)Caa>Aaa	p.Q249K	SPIRE1_ENST00000309836.5_Missense_Mutation_p.Q52K|SPIRE1_ENST00000410092.3_Missense_Mutation_p.Q249K|SPIRE1_ENST00000453447.2_Missense_Mutation_p.Q129K|SPIRE1_ENST00000383356.2_Missense_Mutation_p.Q90K	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	9	24	0	42	249			Q -> P (in dbSNP:rs1785296).			cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TCCATTTCTTGAATCTTCTTA	0.338000													1	1	1	1	1	1	0.999147	11	27	0	43	1	8.201410e-01	5	5	0	43	5
CEP192	55125	broad.mit.edu	37	18	13059163	13059163	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:13059163T>C	ENST00000506447.1	+	21	4420	c.4340T>C	c.(4339-4341)cTt>cCt	p.L1447P	CEP192_ENST00000430049.2_Missense_Mutation_p.L972P|CEP192_ENST00000325971.8_Missense_Mutation_p.L851P	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	41	81	0	95	1042										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATAAAAGTGCTTTTTATACCA	0.413000													1	1	1	1	1	1	1.000000	47	86	0	101	1	9.834523e-01	8	7	0	101	5
ESCO1	114799	broad.mit.edu	37	18	19144267	19144267	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:19144267C>T	ENST00000269214.5	-	7	2655	c.1718G>A	c.(1717-1719)cGa>cAa	p.R573Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	5	13	0	8	573					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.R573Q(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AGAATGATTTCGTGGTGTCTC	0.294000													0	0	1	0	0	1	0.947080	5	14	0	8	1	9.020123e-01	8	7	0	8	1
NPC1	4864	broad.mit.edu	37	18	21136259	21136259	+	Missense_Mutation	SNP	G	G	A	rs140149624		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21136259G>A	ENST00000269228.5	-	8	1828	c.1274C>T	c.(1273-1275)tCg>tTg	p.S425L	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Missense_Mutation_p.S175L	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	24	54	0	89	425					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			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	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)					ATCAGCTCCCGAAGGGTATGG	0.498000													1	1	1	1	1	1	1.000000	26	63	0	92	1	9.914593e-01	9	13	0	92	5
LAMA3	3909	broad.mit.edu	37	18	21330920	21330920	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21330920A>C	ENST00000313654.9	+	5	964	c.723A>C	c.(721-723)aaA>aaC	p.K241N	LAMA3_ENST00000399516.3_Missense_Mutation_p.K241N	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	32	41	0	62	241	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			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	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)	CAGGTGCAAAAAATTTTACTT	0.423000													1	1	1	1	1	1	1.000000	34	46	0	68	0	0	0	0	0	68	5
LAMA3	3909	broad.mit.edu	37	18	21399891	21399891	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21399891G>A	ENST00000313654.9	+	19	2475	c.2234G>A	c.(2233-2235)cGa>cAa	p.R745Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R745Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	19	39	0	63	745					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	p.R745Q(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	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)	AGAGACCTTCGATTTGGATTT	0.443000													1	1	1	1	1	1	1.000000	22	43	0	68	0	0	0	0	0	68	5
TTC39C	125488	broad.mit.edu	37	18	21644103	21644103	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21644103G>T	ENST00000317571.3	+	2	403		c.e2-1		TTC39C_ENST00000304621.6_Splice_Site|TTC39C_ENST00000578150.1_Splice_Site	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	22	30	0	66								binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TTTTTTAACAGAAATCATAGC	0.294000													1	0	1	1	1	1	1.000000	26	32	0	73	0	0	0	0	0	73	4
CABYR	26256	broad.mit.edu	37	18	21736538	21736538	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21736538A>C	ENST00000399481.2	+	2	931	c.779A>C	c.(778-780)aAa>aCa	p.K260T	CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399496.3_Intron|CABYR_ENST00000415309.2_Intron|CABYR_ENST00000581397.1_Intron|CABYR_ENST00000399499.1_Intron			O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	25	62	0	69	358					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					ATGTCTAAAAAATCTGTAGAG	0.408000													1	1	1	1	1	1	1.000000	28	67	0	81	1	7.897780e-01	8	1	0	81	5
OSBPL1A	114876	broad.mit.edu	37	18	21819302	21819302	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:21819302G>T	ENST00000319481.3	-	16	1532	c.1326C>A	c.(1324-1326)atC>atA	p.I442I	OSBPL1A_ENST00000399443.3_5'UTR|OSBPL1A_ENST00000357041.4_Silent_p.I60I	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	16	24	0	35	442					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	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)					CTTCTGACAAGATTTTGTTTT	0.443000													1	1	1	1	1	1	0.999994	17	24	0	36	1	9.744561e-01	6	6	0	36	5
IMPACT	55364	broad.mit.edu	37	18	22028085	22028085	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:22028085T>G	ENST00000284202.4	+	9	838	c.697T>G	c.(697-699)Tta>Gta	p.L233V		NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	6	68	0	83	233										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	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)					ACAGACCTTCTTACAGGATTG	0.353000													1	0	1	1	0	1	0.990455	8	83	0	100	1	6.352041e-01	2	21	0	100	3
TAF4B	6875	broad.mit.edu	37	18	23895323	23895323	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:23895323C>A	ENST00000269142.5	+	10	2961	c.1963C>A	c.(1963-1965)Ctt>Att	p.L655I	TAF4B_ENST00000578121.1_Missense_Mutation_p.L660I	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	12	27	0	36	655	Histone-fold.				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			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	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)			TGAACCATTTCTTTTTATTGG	0.358000													1	1	1	1	1	1	0.999799	13	31	0	40	1	3.574732e-01	2	2	0	40	5
CHST9	83539	broad.mit.edu	37	18	24496352	24496352	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:24496352G>A	ENST00000284224.8	-	6	1480	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Silent_p.S401S|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	34	77	0	83	401					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			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TTCTTTCATCGGAAGAGTGCC	0.368000													1	1	1	1	1	1	1.000000	36	88	0	101	1	7.236445e-01	6	2	0	101	5
DSC3	1825	broad.mit.edu	37	18	28574328	28574328	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28574328C>T	ENST00000360428.4	-	16	2584	c.2504G>A	c.(2503-2505)cGa>cAa	p.R835Q	DSC3_ENST00000434452.1_3'UTR	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	13	23	0	35	835					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTGATTACATCGATGCAATTT	0.318000													1	1	1	1	1	1	0.999836	13	24	0	38	0	0	0	0	0	38	5
DSC2	1824	broad.mit.edu	37	18	28671063	28671063	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28671063C>T	ENST00000280904.6	-	4	845	c.402G>A	c.(400-402)aaG>aaA	p.K134K	DSC2_ENST00000251081.6_Silent_p.K134K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	17	41	0	43	134					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CCCATCTTCTCTTGGCGCGCC	0.388000													1	0	1	1	1	1	0.996246	18	45	1	46	1	9.660352e-01	16	13	1	46	4
DSC1	1823	broad.mit.edu	37	18	28712594	28712594	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28712594T>C	ENST00000257197.3	-	14	2436	c.2175A>G	c.(2173-2175)ccA>ccG	p.P725P	DSC1_ENST00000257198.5_Silent_p.P725P|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	15	37	0	55	725					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTATGTCTTCTGGAAAACATT	0.343000													1	1	1	1	1	1	0.999977	16	39	0	56	0	0	0	0	0	56	5
DSC1	1823	broad.mit.edu	37	18	28712606	28712606	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28712606C>A	ENST00000257197.3	-	14	2424	c.2163G>T	c.(2161-2163)aaG>aaT	p.K721N	DSC1_ENST00000257198.5_Missense_Mutation_p.K721N|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	14	35	0	47	721					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GAAAACATTTCTTGACTGTTC	0.333000													1	1	1	1	1	1	0.999896	14	36	0	48	0	0	0	0	0	48	5
DSC1	1823	broad.mit.edu	37	18	28720011	28720011	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28720011C>A	ENST00000257197.3	-	10	1775	c.1514G>T	c.(1513-1515)gGc>gTc	p.G505V	DSC1_ENST00000257198.5_Missense_Mutation_p.G505V|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	17	40	0	54	505	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCACCTTAAGCCTTCACCACT	0.368000													1	1	1	1	1	1	0.999994	18	46	0	59	0	0	0	0	0	59	5
DSG4	147409	broad.mit.edu	37	18	28968937	28968937	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28968937C>T	ENST00000359747.4	+	5	502	c.473C>T	c.(472-474)tCg>tTg	p.S158L	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.S158L|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	26	55	0	81	158	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S158L(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCAGTCTTTTCGCAAAGTGTA	0.413000													1	1	1	1	1	1	1.000000	28	57	0	87	0	0	0	0	0	87	5
DSG4	147409	broad.mit.edu	37	18	28979455	28979455	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:28979455G>A	ENST00000359747.4	+	9	1255	c.1226G>A	c.(1225-1227)gGc>gAc	p.G409D	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.G409D|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	34	57	0	80	409	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TATGTGCTTGGCACATATACA	0.398000													1	1	1	1	1	1	1.000000	34	63	0	86	0	0	0	0	0	86	5
TRAPPC8	22878	broad.mit.edu	37	18	29487555	29487555	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:29487555T>G	ENST00000283351.4	-	9	1592	c.1257A>C	c.(1255-1257)ccA>ccC	p.P419P	TRAPPC8_ENST00000582539.1_Silent_p.P365P|TRAPPC8_ENST00000582513.1_Silent_p.P419P	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	19	16	0	34	419					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTGAAGTTCTGGTGCTTCCG	0.328000													1	1	1	1	1	1	1.000000	21	17	0	38	1	9.966972e-01	4	8	0	38	5
MEP1B	4225	broad.mit.edu	37	18	29772619	29772619	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:29772619C>T	ENST00000269202.6	+	3	140	c.93C>T	c.(91-93)ggC>ggT	p.G31G	MEP1B_ENST00000581447.1_Silent_p.G31G	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	39	74	0	124	31					digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATGTAGATGGCGGAATGGACC	0.284000													1	1	1	1	1	1	1.000000	42	83	0	142	0	0	0	0	0	142	5
MEP1B	4225	broad.mit.edu	37	18	29797891	29797891	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:29797891G>T	ENST00000269202.6	+	14	2101	c.2054G>T	c.(2053-2055)aGg>aTg	p.R685M	MEP1B_ENST00000581447.1_Missense_Mutation_p.R685M	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	22	25	0	52	685					digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TATCGTGAAAGGATGAGCTCA	0.398000													1	1	1	1	1	1	1.000000	24	29	0	63	0	0	0	0	0	63	5
KLHL14	57565	broad.mit.edu	37	18	30350502	30350502	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:30350502T>C	ENST00000359358.4	-	2	491	c.53A>G	c.(52-54)aAc>aGc	p.N18S	KLHL14_ENST00000358095.4_Missense_Mutation_p.N18S|AC012123.1_ENST00000426194.1_Intron	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	38	59	0	100	18						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GTGCAGCAGGTTGTCGCTGTG	0.632000													1	1	1	1	1	1	1.000000	43	66	0	113	1	9.993628e-01	9	13	0	113	5
DTNA	1837	broad.mit.edu	37	18	32407596	32407596	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32407596C>A	ENST00000283365.9	+	12	1401	c.1050C>A	c.(1048-1050)ttC>ttA	p.F350L	DTNA_ENST00000599844.1_Missense_Mutation_p.F29L|DTNA_ENST00000597599.1_Missense_Mutation_p.F347L|DTNA_ENST00000554864.3_Missense_Mutation_p.F347L|DTNA_ENST00000591182.1_Missense_Mutation_p.F29L|DTNA_ENST00000601125.1_Missense_Mutation_p.F29L|DTNA_ENST00000348997.5_Missense_Mutation_p.F347L|DTNA_ENST00000598334.1_Missense_Mutation_p.F347L|DTNA_ENST00000598774.1_Missense_Mutation_p.F350L|DTNA_ENST00000595022.1_Missense_Mutation_p.F347L|DTNA_ENST00000269190.7_Missense_Mutation_p.F351L|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000598142.1_Missense_Mutation_p.F350L|DTNA_ENST00000399121.5_Missense_Mutation_p.F347L|DTNA_ENST00000399113.3_Missense_Mutation_p.F350L|DTNA_ENST00000315456.6_Missense_Mutation_p.F350L|DTNA_ENST00000269191.6_Missense_Mutation_p.F350L|DTNA_ENST00000399097.3_Missense_Mutation_p.F29L|DTNA_ENST00000444659.1_Missense_Mutation_p.F350L|DTNA_ENST00000556414.3_Missense_Mutation_p.F29L|DTNA_ENST00000269192.7_Missense_Mutation_p.F29L|DTNA_ENST00000597674.1_Missense_Mutation_p.F29L	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	29	48	1	98	350					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACACCCTGTTCTCCCACTCTG	0.403000													1	0	1	1	1	1	1.000000	33	52	2	119	1	9.951331e-01	8	9	2	119	4
DTNA	1837	broad.mit.edu	37	18	32459636	32459636	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32459636T>C	ENST00000283365.9	+	19	2214	c.1863T>C	c.(1861-1863)ccT>ccC	p.P621P	DTNA_ENST00000591182.1_Silent_p.P326P|DTNA_ENST00000601125.1_Silent_p.P300P|DTNA_ENST00000598334.1_Silent_p.P618P|DTNA_ENST00000595022.1_Silent_p.P618P|DTNA_ENST00000269190.7_Silent_p.P679P|DTNA_ENST00000598142.1_Silent_p.P621P|DTNA_ENST00000590831.2_Silent_p.P104P|DTNA_ENST00000399121.5_Silent_p.P625P|DTNA_ENST00000399113.3_Silent_p.P678P|DTNA_ENST00000399097.3_Silent_p.P326P|DTNA_ENST00000444659.1_Silent_p.P678P|DTNA_ENST00000556414.3_Silent_p.P330P|DTNA_ENST00000269192.7_Silent_p.P387P	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	18	27	0	33	678					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCCGAAAACCTGGGTACATTC	0.458000													1	1	1	1	1	1	0.999996	18	31	0	38	1	9.552488e-01	6	5	0	38	5
ZSCAN30	100101467	broad.mit.edu	37	18	32844236	32844236	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32844236T>A	ENST00000420878.3	-	3	536	c.81A>T	c.(79-81)gaA>gaT	p.E27D	ZNF397_ENST00000589420.1_Intron|ZSCAN30_ENST00000589178.1_Missense_Mutation_p.E27D|ZSCAN30_ENST00000383091.2_Missense_Mutation_p.E27D|ZSCAN30_ENST00000333206.5_Missense_Mutation_p.E27D|ZSCAN30_ENST00000592278.1_Missense_Mutation_p.E27D|ZSCAN30_ENST00000601405.1_Missense_Mutation_p.E27D	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	23	33	0	56	27					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						AAACATAATTTTCTTCTTCAA	0.488000													1	1	1	1	1	1	1.000000	25	34	0	60	1	7.929967e-01	2	4	0	60	5
ZNF396	252884	broad.mit.edu	37	18	32949295	32949295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:32949295G>A	ENST00000306346.1	-	4	1023	c.892C>T	c.(892-894)Cga>Tga	p.R298*	ZNF396_ENST00000589332.1_Nonsense_Mutation_p.R298*	NM_145756.2	NP_665699.1	Q96N95	ZN396_HUMAN	zinc finger protein 396	4	38	0	58	298					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TGGGTTCGTCGATGCTGAATC	0.438000													0	0	1	0	0	1	0.893343	4	42	0	68	1	2.440959e-01	2	7	0	68	1
FHOD3	80206	broad.mit.edu	37	18	34298177	34298177	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:34298177G>A	ENST00000257209.4	+	16	2513	c.2391G>A	c.(2389-2391)ccG>ccA	p.P797P	FHOD3_ENST00000359247.4_Silent_p.P780P|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Silent_p.P759P|FHOD3_ENST00000590592.1_Silent_p.P972P	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	30	52	0	112	780					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGGTGCAGCCGAAGACAGAGT	0.537000													1	1	1	1	1	1	1.000000	30	55	0	117	1	9.334109e-01	6	5	0	117	5
PIK3C3	5289	broad.mit.edu	37	18	39567792	39567792	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:39567792G>A	ENST00000262039.4	+	5	634	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	PIK3C3_ENST00000398870.3_Missense_Mutation_p.R120Q	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	14	45	0	78	183					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			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AAAGCTCATCGACAAGGACAC	0.328000										TSP Lung(28;0.18)			1	1	1	1	1	1	0.999997	19	47	0	93	1	9.931157e-01	8	16	0	93	5
PIK3C3	5289	broad.mit.edu	37	18	39617746	39617746	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:39617746G>T	ENST00000262039.4	+	17	2016	c.1930G>T	c.(1930-1932)Gat>Tat	p.D644Y	PIK3C3_ENST00000587402.1_5'UTR|PIK3C3_ENST00000589056.1_5'UTR|PIK3C3_ENST00000593098.1_Missense_Mutation_p.D129Y|PIK3C3_ENST00000398870.3_Missense_Mutation_p.D581Y	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	34	89	0	137	644	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			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTTACGTCAAGATCAACTTAT	0.373000										TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	35	94	0	153	1	9.999434e-01	15	31	0	153	5
SYT4	6860	broad.mit.edu	37	18	40851677	40851677	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:40851677C>A	ENST00000255224.3	-	3	1338	c.970_splice	c.e3+1	p.D324_splice	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Splice_Site_p.D306_splice	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	16	35	0	97	324	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GCATTCTTACCTGAAAGTCCG	0.393000													1	1	1	1	1	1	0.999990	17	37	0	105	0	0	0	0	0	105	5
EPG5	57724	broad.mit.edu	37	18	43523145	43523145	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:43523145C>T	ENST00000282041.5	-	9	1959	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	37	73	0	100	642					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATAACCAATTCGCTTCACAAA	0.433000													1	1	1	1	1	1	1.000000	41	80	0	110	1	5.522174e-01	2	3	0	110	5
KATNAL2	83473	broad.mit.edu	37	18	44579309	44579309	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:44579309G>T	ENST00000356157.7	+	3	199	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	KATNAL2_ENST00000245121.5_5'UTR|KATNAL2_ENST00000592005.1_Intron			Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	17	36	0	42	61						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						ACGACGGTTTGAAGTTTGTGA	0.333000													1	0	1	1	1	1	0.999996	18	36	0	42	0	9.616619e-01	1	13	0	42	4
DYM	54808	broad.mit.edu	37	18	46570519	46570519	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:46570519A>C	ENST00000269445.6	-	17	2373	c.1916T>G	c.(1915-1917)tTt>tGt	p.F639C	RP11-15F12.1_ENST00000584252.1_RNA|DYM_ENST00000442713.2_Missense_Mutation_p.F449C	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	66	118	0	199	639						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ATAGGGGATAAAAAACTCCTC	0.443000													1	1	1	1	1	1	1.000000	68	133	0	209	1	1	49	78	0	209	5
MYO5B	4645	broad.mit.edu	37	18	47404165	47404165	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:47404165C>T	ENST00000285039.7	-	25	3663	c.3364G>A	c.(3364-3366)Gga>Aga	p.G1122R	MYO5B_ENST00000324581.6_Missense_Mutation_p.G263R	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	31	47	0	75	1122					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCAGTGTCTCCGATCTCAGAT	0.507000													1	1	1	1	1	1	1.000000	33	50	0	81	1	1	25	56	0	81	5
CXXC1	30827	broad.mit.edu	37	18	47809356	47809356	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:47809356G>A	ENST00000589940.1	-	14	1716	c.1655C>T	c.(1654-1656)gCg>gTg	p.A552V	CXXC1_ENST00000285106.6_Silent_p.C564C|CXXC1_ENST00000412036.2_Silent_p.C568C			Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	23	46	0	71	0					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			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GGGGGCACCCGCATACCTCGT	0.592000													1	1	1	1	1	1	1.000000	26	51	0	84	1	1	59	84	0	84	5
MAPK4	5596	broad.mit.edu	37	18	48252489	48252489	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:48252489C>T	ENST00000400384.2	+	5	2047	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	MAPK4_ENST00000540640.1_Silent_p.I126I|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	34	64	0	72	337					cell cycle		ATP binding|MAP kinase activity	p.I337I(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TCGACGACATCGTGCTGATGG	0.602000													1	1	1	1	1	1	1.000000	38	72	0	83	0	0	0	0	0	83	5
ME2	4200	broad.mit.edu	37	18	48446854	48446854	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:48446854G>A	ENST00000321341.5	+	8	1035	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	ME2_ENST00000382927.3_Missense_Mutation_p.E255K	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	8	23	0	27	255					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		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)	CATTCAGTTCGAAGACTTTGG	0.338000													1	0	1	1	1	1	0.996349	9	25	0	31	1	9.976145e-01	16	21	0	31	4
DCC	1630	broad.mit.edu	37	18	49867163	49867163	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:49867163G>T	ENST00000442544.2	+	1	622	c.6G>T	c.(4-6)gaG>gaT	p.E2D		NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	37	91	0	169	2					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAATATGGAGAATAGTCTTA	0.542000													1	1	1	1	1	1	1.000000	41	97	0	198	0	0	0	0	0	198	5
DCC	1630	broad.mit.edu	37	18	50278454	50278454	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50278454G>A	ENST00000442544.2	+	2	738	c.122G>A	c.(121-123)cGc>cAc	p.R41H		NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	13	17	0	39	41	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAGCACTGCGCTTCCTCTCA	0.483000													1	1	1	1	1	1	0.999876	13	18	0	46	0	0	0	0	0	46	5
DCC	1630	broad.mit.edu	37	18	50432692	50432692	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50432692T>G	ENST00000442544.2	+	3	1307	c.691T>G	c.(691-693)Tta>Gta	p.L231V	DCC_ENST00000412726.1_Missense_Mutation_p.L79V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	30	41	0	80	231					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGTCAGAATTTTATCAGGTAT	0.383000													1	1	1	1	1	1	1.000000	32	43	0	94	0	0	0	0	0	94	5
DCC	1630	broad.mit.edu	37	18	50450145	50450145	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50450145G>T	ENST00000442544.2	+	4	1382	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	DCC_ENST00000412726.1_Missense_Mutation_p.D104Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	18	21	0	36	256	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGAAGGAAAAGATGCTGTCCT	0.423000													1	1	1	1	1	1	0.999997	18	25	0	39	0	0	0	0	0	39	5
DCC	1630	broad.mit.edu	37	18	50731697	50731697	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50731697G>T	ENST00000442544.2	+	10	2301	c.1685G>T	c.(1684-1686)aGa>aTa	p.R562I	DCC_ENST00000581580.1_Missense_Mutation_p.R217I|DCC_ENST00000412726.1_Missense_Mutation_p.R410I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	71	111	1	163	562	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAAGGTTACAGATTGTTCTGC	0.488000													1	0	1	1	1	1	1.000000	77	117	2	178	0	0	0	0	2	178	4
DCC	1630	broad.mit.edu	37	18	50923743	50923743	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:50923743C>A	ENST00000442544.2	+	18	3370	c.2754C>A	c.(2752-2754)ttC>ttA	p.F918L	DCC_ENST00000581580.1_Missense_Mutation_p.F553L|DCC_ENST00000412726.1_Missense_Mutation_p.F746L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	15	35	0	48	918	Fibronectin type-III 5.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.F918L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTATGAATTCTCGGTCATGG	0.403000													1	1	1	1	1	1	0.999950	15	38	0	51	0	0	0	0	0	51	5
DCC	1630	broad.mit.edu	37	18	51053053	51053053	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:51053053C>A	ENST00000442544.2	+	28	4794	c.4178C>A	c.(4177-4179)cCt>cAt	p.P1393H	DCC_ENST00000581580.1_Missense_Mutation_p.P1026H|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	34	53	0	81	1393					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCAAGATCCCCTTTGCTTCCT	0.468000													1	1	1	1	1	1	1.000000	36	59	0	87	0	0	0	0	0	87	5
POLI	11201	broad.mit.edu	37	18	51810358	51810358	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:51810358G>T	ENST00000579534.1	+	7	1185	c.1042G>T	c.(1042-1044)Gaa>Taa	p.E348*	POLI_ENST00000406285.3_Nonsense_Mutation_p.E269*|POLI_ENST00000217800.5_Nonsense_Mutation_p.E222*|POLI_ENST00000579434.1_Nonsense_Mutation_p.E245*	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	3	16	0	15	348					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TAAGATTGAAGAACTACTTGC	0.299000								DNA polymerases (catalytic subunits)					0	0	1	0	0	1	0.813118	3	17	0	18	1	4.254642e-01	2	6	0	18	1
C18orf54	162681	broad.mit.edu	37	18	51898953	51898953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:51898953G>T	ENST00000300091.5	+	6	1293	c.961G>T	c.(961-963)Gaa>Taa	p.E321*	C18orf54_ENST00000578138.1_Nonsense_Mutation_p.E100*|C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000382911.4_Nonsense_Mutation_p.E482*	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	17	36	0	62	321						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		AGATCCAAAAGAAGAGATTAA	0.303000													1	1	1	1	1	1	0.999995	18	39	0	67	0	0	0	0	0	67	5
ST8SIA3	51046	broad.mit.edu	37	18	55021708	55021708	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:55021708G>T	ENST00000324000.3	+	2	2289	c.255G>T	c.(253-255)gaG>gaT	p.E85D		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	45	69	0	108	85					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(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AACTCCAAGAGAAACCTTCTA	0.433000													1	1	1	1	1	1	1.000000	46	72	0	111	0	0	0	0	0	111	5
ATP8B1	5205	broad.mit.edu	37	18	55338749	55338749	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:55338749C>T	ENST00000536015.1	-	17	2002	c.1883G>A	c.(1882-1884)cGg>cAg	p.R628Q	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.R628Q	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	12	37	0	56	628			R -> W (in BRIC1).		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(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TCGATGTAACCGTTCATAAAT	0.373000													1	1	1	1	1	1	0.999946	15	41	0	61	1	9.880940e-01	14	10	0	61	5
CCBE1	147372	broad.mit.edu	37	18	57363940	57363940	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:57363940C>A	ENST00000439986.4	-	2	170	c.131_splice	c.e2-1	p.E45_splice	RP11-2N1.2_ENST00000588946.1_RNA	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	24	51	0	54	45					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GAGCAGATTTCTCTATGAAAA	0.587000											OREG0025022	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	25	55	0	62	0	0	0	0	0	62	5
PMAIP1	5366	broad.mit.edu	37	18	57569889	57569889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:57569889C>T	ENST00000269518.9	+	3	382	c.220C>T	c.(220-222)Cga>Tga	p.R74*	PMAIP1_ENST00000316660.6_Silent_p.V23V			Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	24	38	0	75	0					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding			breast(1)	1		Colorectal(73;0.0946)				AGCTGGAAGTCGAGTGTGCTA	0.433000													1	1	1	1	1	1	1.000000	27	44	0	82	1	9.912506e-01	9	7	0	82	5
PMAIP1	5366	broad.mit.edu	37	18	57569963	57569963	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:57569963A>C	ENST00000316660.6	+	2	373	c.143A>C	c.(142-144)aAa>aCa	p.K48T	PMAIP1_ENST00000269518.9_Missense_Mutation_p.Q98H	NM_021127.2	NP_066950.1	Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	18	33	0	66	48	Required for mitochondrial location.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding			breast(1)	1		Colorectal(73;0.0946)				CTGATATCCAAACTCTTCTGC	0.438000													1	1	1	1	1	1	1.000000	22	33	0	75	1	9.990636e-01	12	10	0	75	5
TNFRSF11A	8792	broad.mit.edu	37	18	60025530	60025530	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:60025530C>A	ENST00000586569.1	+	5	515	c.477C>A	c.(475-477)ttC>ttA	p.F159L	TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.F159L	NM_003839.2	NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	39	50	0	99	159					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|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 JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CAGGCTACTTCTCTGATGCCT	0.418000													1	1	1	1	1	1	1.000000	44	62	0	112	0	1.758410e-01	1	1	0	112	5
PHLPP1	23239	broad.mit.edu	37	18	60646231	60646231	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:60646231C>T	ENST00000400316.4	+	17	4966	c.3185C>T	c.(3184-3186)gCc>gTc	p.A1062V	PHLPP1_ENST00000262719.5_Missense_Mutation_p.A1574V	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	10	17	0	18	1574				L -> F (in Ref. 4; AAH47653).	apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TGCAGCCGGGCCAAGGAGAAG	0.622000													1	1	1	1	1	1	0.998557	10	18	0	19	1	9.982341e-01	10	17	0	19	5
KDSR	2531	broad.mit.edu	37	18	61002592	61002592	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:61002592C>T	ENST00000406396.3	-	9	1169		c.e9-1		KDSR_ENST00000326575.5_Splice_Site|KDSR_ENST00000589592.1_Splice_Site	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	20	29	0	51						3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						AATTTCCTTGCTAAAAGAGAA	0.468000													1	1	1	1	1	1	0.999955	21	30	1	56	1	9.998939e-01	40	1	1	56	5
SERPINB5	5268	broad.mit.edu	37	18	61166405	61166405	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:61166405G>A	ENST00000382771.4	+	6	912	c.620G>A	c.(619-621)gGa>gAa	p.G207E	SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	31	43	0	92	207					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TTCTGTATGGGAAACATTGAC	0.408000													1	1	1	1	1	1	1.000000	34	46	0	107	0	0	0	1	0	107	5
SERPINB3	6317	broad.mit.edu	37	18	61324590	61324590	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:61324590G>T	ENST00000283752.5	-	6	669	c.526C>A	c.(526-528)Ctt>Att	p.L176I	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.L176I	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	4	65	0	84	176					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCGTTCACAAGAACCAATGTG	0.323000													0	0	1	0	1	1	0.892207	4	73	0	96	1	9.889037e-01	45	132	0	96	2
CDH19	28513	broad.mit.edu	37	18	64212074	64212074	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:64212074T>G	ENST00000262150.2	-	6	1134	c.842A>C	c.(841-843)tAt>tCt	p.Y281S	CDH19_ENST00000540086.1_Missense_Mutation_p.Y281S	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	8	15	0	25	281	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GTCATTATCATATGCCATGAT	0.358000													1	1	1	1	1	1	0.996951	9	17	0	28	0	0	0	0	0	28	5
DSEL	92126	broad.mit.edu	37	18	65178668	65178668	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:65178668T>G	ENST00000310045.7	-	2	4681	c.3208A>C	c.(3208-3210)Aaa>Caa	p.K1070Q	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	12	35	0	46	1060						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTAAACAATTTTGCTAAATGC	0.333000													1	1	1	1	1	1	0.999533	12	35	0	46	1	7.428571e-02	2	0	0	46	5
DSEL	92126	broad.mit.edu	37	18	65178964	65178964	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:65178964A>C	ENST00000310045.7	-	2	4385	c.2912T>G	c.(2911-2913)tTt>tGt	p.F971C	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	14	34	0	56	961						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TCTCCTTTTAAATTTTCTTTT	0.378000													1	1	1	1	1	1	0.999953	15	35	0	56	0	8.388386e-01	0	10	0	56	5
DSEL	92126	broad.mit.edu	37	18	65180565	65180565	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:65180565T>C	ENST00000310045.7	-	2	2784	c.1311A>G	c.(1309-1311)acA>acG	p.T437T	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	14	33	0	51	427						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGTTGGTCTGTGTGTTTGGCA	0.483000													1	1	1	1	1	1	0.999898	14	35	0	54	0	3.397934e-01	0	4	0	54	5
TMX3	54495	broad.mit.edu	37	18	66365258	66365258	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:66365258G>A	ENST00000299608.2	-	7	719	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	TMX3_ENST00000443099.2_Missense_Mutation_p.R108W|TMX3_ENST00000562706.1_Missense_Mutation_p.R135W	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	12	21	0	25	135					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						GGAAGTGGCCGAATTAGAGCC	0.318000													1	1	1	1	1	1	0.999968	15	24	0	25	1	9.991113e-01	16	9	0	25	5
CCDC102B	79839	broad.mit.edu	37	18	66505962	66505962	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:66505962A>C	ENST00000360242.5	+	3	743	c.626A>C	c.(625-627)gAt>gCt	p.D209A	CCDC102B_ENST00000319445.6_Missense_Mutation_p.D209A|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D209A|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D209A	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	9	26	0	46	209										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GTGGTTATTGATTCTCTAAAA	0.343000													1	1	1	1	1	1	0.998192	10	27	0	49	0	0	0	0	0	49	5
CCDC102B	79839	broad.mit.edu	37	18	66721328	66721328	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:66721328G>T	ENST00000360242.5	+	8	1613	c.1496G>T	c.(1495-1497)aGa>aTa	p.R499I	CCDC102B_ENST00000319445.6_Missense_Mutation_p.R499I	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	21	42	0	43	499								p.R499K(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GAGAAAGAAAGAAATGAAAAC	0.368000													1	1	1	1	1	1	1.000000	24	45	0	52	0	0	0	1	0	52	5
NETO1	81832	broad.mit.edu	37	18	70526222	70526222	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:70526222A>G	ENST00000327305.6	-	4	965	c.308T>C	c.(307-309)gTt>gCt	p.V103A	NETO1_ENST00000299430.2_Missense_Mutation_p.V102A|NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000583169.1_Missense_Mutation_p.V103A|NETO1_ENST00000397929.1_Missense_Mutation_p.V102A	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	16	20	0	43	103	CUB 1.				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			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCCATCTCGAACTTCAATATG	0.378000													1	1	1	1	1	1	0.999995	17	21	0	45	0	0	0	0	0	45	5
CNDP1	84735	broad.mit.edu	37	18	72247405	72247405	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:72247405A>C	ENST00000582365.1	+	9	1144	c.1078A>C	c.(1078-1080)Agt>Cgt	p.S360R	CNDP1_ENST00000358821.3_Missense_Mutation_p.S403R			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	11	15	0	23	403					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.S403G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CAAAAGAAATAGTTCCAACAA	0.388000													1	1	1	1	1	1	0.999759	12	15	0	24	0	0	0	0	0	24	5
ZNF407	55628	broad.mit.edu	37	18	72344194	72344194	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:72344194G>A	ENST00000299687.5	+	1	1219	c.1219G>A	c.(1219-1221)Ggt>Agt	p.G407S	ZNF407_ENST00000577538.1_Missense_Mutation_p.G407S|ZNF407_ENST00000309902.6_Missense_Mutation_p.G407S|ZNF407_ENST00000582337.1_Missense_Mutation_p.G407S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	16	39	0	43	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCAGCACACGGTAACAGTGT	0.468000													1	1	1	1	1	1	0.999977	16	39	0	44	0	9.255898e-02	0	2	0	44	5
GALR1	2587	broad.mit.edu	37	18	74980781	74980781	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:74980781G>T	ENST00000299727.3	+	3	973	c.973G>T	c.(973-975)Gat>Tat	p.D325Y		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	12	100	0	96	325					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		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)		CATTCGCAAAGATTCACACCT	0.388000													1	1	1	1	1	1	0.999813	14	111	0	107	0	0	0	0	0	107	5
SALL3	27164	broad.mit.edu	37	18	76754412	76754412	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:76754412C>T	ENST00000536229.3	+	1	2731	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	SALL3_ENST00000537592.2_Silent_p.D807D|SALL3_ENST00000575389.2_Silent_p.D807D			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	15	25	0	48	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		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)		CCATGGAGGACGACGCTGAGC	0.652000													1	1	1	1	1	1	0.999965	15	26	0	49	0	0	0	0	0	49	5
ATP9B	374868	broad.mit.edu	37	18	76953202	76953202	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:76953202C>T	ENST00000426216.2	+	9	910	c.893C>T	c.(892-894)gCt>gTt	p.A298V	ATP9B_ENST00000307671.7_Missense_Mutation_p.A298V	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	6	45	0	61	298					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			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		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)		TCTATCAGTGCTTATGTTTAT	0.318000													1	0	1	1	1	1	0.995478	9	49	0	70	0	2.661550e-01	0	6	0	70	4
RBFA	79863	broad.mit.edu	37	18	77797377	77797377	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:77797377G>T	ENST00000306735.5	+	3	387	c.249G>T	c.(247-249)aaG>aaT	p.K83N	RBFADN_ENST00000569722.1_Intron|RBFA_ENST00000586847.1_3'UTR|RBFA_ENST00000262197.7_Missense_Mutation_p.K83N	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	35	76	0	109	83					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GCACCTCAAAGAAAACCAGGA	0.532000													1	1	1	1	1	1	1.000000	39	82	0	116	1	9.999986e-01	21	30	0	116	5
RBFA	79863	broad.mit.edu	37	18	77805878	77805878	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr18:77805878A>G	ENST00000306735.5	+	7	893	c.755A>G	c.(754-756)aAa>aGa	p.K252R	RBFADN_ENST00000569722.1_Intron|RBFA_ENST00000262197.7_Missense_Mutation_p.K224E	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	53	69	0	131	252					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						ATGGAGTACAAAAGGAGGAAA	0.587000													1	1	1	1	1	1	1.000000	60	75	0	148	1	1	20	34	0	148	5
TMEM259	91304	broad.mit.edu	37	19	1012473	1012473	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1012473A>C	ENST00000356663.3	-	4	828	c.707T>G	c.(706-708)gTg>gGg	p.V236G	TMEM259_ENST00000333175.5_Missense_Mutation_p.V236G	NM_001033026.1	NP_001028198.1			transmembrane protein 259	4	10	0	16																		CAGGGTGACCACCATGACGGG	0.677000													1	0	1	1	1	1	0.949096	5	11	0	17	1	9.999999e-01	64	193	0	17	4
ABCA7	10347	broad.mit.edu	37	19	1042699	1042699	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1042699A>G	ENST00000435683.2	+	1	39	c.39A>G	c.(37-39)ctA>ctG	p.L13L	ABCA7_ENST00000433129.1_Intron|ABCA7_ENST00000263094.6_Intron			Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	9	49	0	67	0					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		CTGGACCCCTAGTGAGTGTTC	0.552000													1	0	1	1	1	1	0.995456	9	50	0	68	1	4.931978e-01	5	5	0	68	4
SBNO2	22904	broad.mit.edu	37	19	1147372	1147372	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1147372T>C	ENST00000361757.3	-	4	452	c.215A>G	c.(214-216)gAc>gGc	p.D72G	SBNO2_ENST00000587024.1_Missense_Mutation_p.D72G	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	26	31	1	77	72					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		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)		ATAGCTGGTGTCTGGGCAGGG	0.687000													1	0	1	1	0	1	1.000000	29	35	1	85	1	9.999998e-01	27	29	1	85	3
APC2	10297	broad.mit.edu	37	19	1453536	1453536	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1453536C>T	ENST00000535453.1	+	3	2052	c.339C>T	c.(337-339)tcC>tcT	p.S113S	APC2_ENST00000233607.2_Silent_p.S113S|APC2_ENST00000238483.4_Silent_p.S113S			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	13	36	0	45	113					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)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		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)		TACACGGCTCCGGGCCCTCCA	0.692000													1	1	1	1	0	1	0.999951	15	37	0	45	0	0	0	0	0	45	4
ATP8B3	148229	broad.mit.edu	37	19	1787174	1787174	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1787174T>G	ENST00000539485.1	-	25	3344	c.3111A>C	c.(3109-3111)gaA>gaC	p.E1037D	ATP8B3_ENST00000310127.6_Missense_Mutation_p.E1027D|ATP8B3_ENST00000525591.1_Missense_Mutation_p.E990D			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	8	14	0	19	1027					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GGAACCATCCTTCATACAGGG	0.597000													1	1	1	1	1	1	0.994006	8	14	0	21	1	8.268047e-01	4	4	0	21	5
REXO1	57455	broad.mit.edu	37	19	1816537	1816537	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1816537C>T	ENST00000170168.4	-	14	3443	c.3349G>A	c.(3349-3351)Gac>Aac	p.D1117N		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	23	47	0	69	1117	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		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)		ACACTTGTGTCGGCAAGGTCA	0.662000													1	1	1	1	1	1	1.000000	24	52	0	79	1	1	41	48	0	79	5
SCAMP4	113178	broad.mit.edu	37	19	1918133	1918133	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:1918133C>T	ENST00000316097.8	+	4	411	c.144C>T	c.(142-144)tgC>tgT	p.C48C	SCAMP4_ENST00000409472.1_Silent_p.C48C|SCAMP4_ENST00000414057.2_3'UTR	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	14	32	0	50	48					protein transport	integral to membrane							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)		CAGTTTACTGCGCCACCCTCG	0.662000													1	1	1	1	0	1	0.999979	16	34	0	61	1	1	52	53	0	61	4
AP3D1	8943	broad.mit.edu	37	19	2151286	2151286	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:2151286C>A	ENST00000355272.6	-	1	254	c.48G>T	c.(46-48)aaG>aaT	p.K16N	AP3D1_ENST00000350812.6_Missense_Mutation_p.K16N|AP3D1_ENST00000356926.4_Missense_Mutation_p.K16N|AP3D1_ENST00000345016.5_Missense_Mutation_p.K16N	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	10	26	0	30	16					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			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		CCTGCAGATTCTTGTCGAACA	0.692000													1	0	1	1	0	1	0.999584	12	29	0	36	1	9.806309e-01	7	13	0	36	3
ATCAY	85300	broad.mit.edu	37	19	3905590	3905590	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:3905590G>A	ENST00000450849.2	+	4	762	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ATCAY_ENST00000600960.1_Missense_Mutation_p.E99K|ATCAY_ENST00000301260.6_Missense_Mutation_p.E99K|ATCAY_ENST00000398448.3_Missense_Mutation_p.E105K	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	47	55	0	130	99					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		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)		GGATGACATCGAGACCCCCGA	0.557000													1	1	1	1	1	1	1.000000	53	66	0	150	0	0	0	0	0	150	5
ZBTB7A	51341	broad.mit.edu	37	19	4054879	4054879	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:4054879C>T	ENST00000322357.4	-	2	630	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.A118T	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	12	9	0	17	118					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		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)		TGGCTCACGGCGGGGATCTCC	0.682000													0	1	1	1	0	1	0.999862	13	20	0	17	1	9.999979e-01	16	39	0	17	3
TMIGD2	126259	broad.mit.edu	37	19	4294612	4294612	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:4294612A>G	ENST00000301272.2	-	4	559	c.514T>C	c.(514-516)Ttc>Ctc	p.F172L	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000600114.1_Missense_Mutation_p.F52L|TMIGD2_ENST00000595645.1_Missense_Mutation_p.F172L	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	117	229	0	458	172						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCCCAGAACCAGGCACCC	0.617000													1	1	1	1	1	1	1.000000	129	259	0	540	0	0	0	0	0	540	5
CATSPERD	257062	broad.mit.edu	37	19	5766116	5766116	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:5766116G>A	ENST00000381624.3	+	17	1570	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	CATSPERD_ENST00000381614.2_Silent_p.S161S|CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	14	23	0	26	503						integral to membrane											CTCTGCAGTCGACACTGATTT	0.522000													1	1	1	1	1	1	0.999965	15	26	0	30	0	0	0	0	0	30	5
FUT5	2527	broad.mit.edu	37	19	5867215	5867215	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:5867215G>A	ENST00000252675.5	-	5	1084	c.522C>T	c.(520-522)agC>agT	p.S174S	FUT5_ENST00000588525.1_Silent_p.S174S			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	24	43	0	79	174					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			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TGTCGGAGTCGCTGCGGTAGG	0.652000													1	1	1	1	0	1	1.000000	26	46	0	66	0	0	0	0	0	66	4
NDUFA11	126328	broad.mit.edu	37	19	5894850	5894850	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:5894850A>C	ENST00000308961.4	-	4	376	c.329T>G	c.(328-330)aTt>aGt	p.I110S	NDUFA11_ENST00000592634.1_3'UTR|AC024592.12_ENST00000586349.1_Intron|NDUFA11_ENST00000418389.2_Intron|FUT5_ENST00000252675.5_Intron	NM_175614.4	NP_783313.1	Q86Y39	NDUAB_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa	4	10	0	16	110					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I	protein transporter activity			central_nervous_system(1)|lung(1)	2					NADH(DB00157)	GGCGGCGCCAATCCCGTAGTT	0.682000													1	1	1	1	1	1	0.975837	6	10	0	18	1	1	289	413	0	18	5
MLLT1	4298	broad.mit.edu	37	19	6262312	6262312	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:6262312T>C	ENST00000252674.7	-	3	366	c.203A>G	c.(202-204)gAg>gGg	p.E68G		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	16	37	0	36	68	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GTAGGGGGGCTCCTTGCACAC	0.567000			T	MLL	AL								1	1	1	1	1	1	0.999977	16	39	0	40	1	9.999920e-01	36	26	0	40	5
KHSRP	8570	broad.mit.edu	37	19	6416504	6416504	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:6416504G>A	ENST00000398148.3	-	14	1577	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	MIR3940_ENST00000579148.1_RNA	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	8	17	0	27	495	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	p.I495I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						AACCCACCTCGATCTTTTCCT	0.587000													1	1	1	1	1	1	0.998557	10	18	0	28	1	1	153	220	0	28	5
EMR1	2015	broad.mit.edu	37	19	6906479	6906479	+	Missense_Mutation	SNP	G	G	A	rs151096072		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:6906479G>A	ENST00000312053.4	+	9	1022	c.985G>A	c.(985-987)Gat>Aat	p.D329N	EMR1_ENST00000381407.5_Missense_Mutation_p.D188N|EMR1_ENST00000381404.4_Missense_Mutation_p.D277N|EMR1_ENST00000250572.8_Missense_Mutation_p.D329N|EMR1_ENST00000450315.3_Missense_Mutation_p.D152N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	29	43	0	40	329	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.D329Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGTGATACCCGATAATAAGCA	0.393000													1	1	1	1	1	1	1.000000	30	51	0	46	0	0	0	0	0	46	5
INSR	0	broad.mit.edu	37	19	7125368	7125368	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:7125368A>G	ENST00000341500.5	-	16	3187	c.3148T>C	c.(3148-3150)Tca>Cca	p.S1050P	INSR_ENST00000302850.5_Missense_Mutation_p.S1062P	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	29	67	0	94	1062	Protein kinase.				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			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGACTGGCTGACTCGTTGACC	0.612000													1	1	1	1	1	1	1.000000	31	70	0	97	0	8.885196e-01	1	10	0	97	5
ARHGEF18	23370	broad.mit.edu	37	19	7523545	7523545	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:7523545T>C	ENST00000359920.6	+	9	2018	c.1765T>C	c.(1765-1767)Tgg>Cgg	p.W589R	CTD-2207O23.3_ENST00000593531.1_Silent_p.P546P|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.W431R	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	10	48	0	53	589	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			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CAGGAACGCCTGGATGGCCCA	0.582000													1	1	1	1	1	1	0.999868	14	51	0	54	1	9.996142e-01	15	41	0	54	5
SNAPC2	6618	broad.mit.edu	37	19	7987561	7987561	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:7987561C>T	ENST00000221573.6	+	5	968	c.917C>T	c.(916-918)tCg>tTg	p.S306L	SNAPC2_ENST00000597584.1_Missense_Mutation_p.S69L	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	45	79	0	128	306					snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						GAACTGAAATCGCCTTGGCAA	0.682000													1	1	1	1	1	1	1.000000	48	85	0	138	1	1	22	45	0	138	5
FBN3	84467	broad.mit.edu	37	19	8191614	8191614	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:8191614G>T	ENST00000600128.1	-	19	2813	c.2399C>A	c.(2398-2400)tCt>tAt	p.S800Y	FBN3_ENST00000270509.2_Missense_Mutation_p.S800Y|FBN3_ENST00000601739.1_Missense_Mutation_p.S800Y			Q75N90	FBN3_HUMAN	fibrillin 3	21	39	0	61	800	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAGGTACCAGAGGGGTCCAG	0.667000													1	1	1	1	1	1	1.000000	21	41	0	63	0	0	0	0	0	63	5
MYO1F	4542	broad.mit.edu	37	19	8612994	8612994	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:8612994C>T	ENST00000338257.8	-	12	1462	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	94	117	0	162	399	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CAAAACTGCTCGAAGCCATTT	0.547000													1	1	1	1	1	1	1.000000	109	124	0	185	0	7.674797e-01	0	5	0	185	5
MUC16	94025	broad.mit.edu	37	19	9014641	9014641	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9014641T>C	ENST00000397910.4	-	31	38537	c.38334A>G	c.(38332-38334)aaA>aaG	p.K12778K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	52	70	0	122	12780	SEA 5.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCAGGGCTTTTGGGGTCAA	0.557000													0	1	1	1	0	1	1.000000	52	71	0	94	0	0	0	0	0	94	3
MUC16	94025	broad.mit.edu	37	19	9049889	9049889	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9049889G>A	ENST00000397910.4	-	5	31945	c.31742C>T	c.(31741-31743)cCg>cTg	p.P10581L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	47	55	0	68	10583	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGAATAACCGGACTTCTCTC	0.483000													1	1	1	1	1	1	1.000000	48	56	0	69	0	0	0	1	0	69	5
MUC16	94025	broad.mit.edu	37	19	9057532	9057532	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9057532T>C	ENST00000397910.4	-	3	30117	c.29914A>G	c.(29914-29916)Acc>Gcc	p.T9972A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	85	194	2	213	9974	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGCCAAGGTAAGAGTACTC	0.478000													1	0	0	1	1	1	1.000000	92	216	2	253	0	0	0	1	2	253	3
MUC16	94025	broad.mit.edu	37	19	9062453	9062453	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9062453C>T	ENST00000397910.4	-	3	25196	c.24993G>A	c.(24991-24993)gaG>gaA	p.E8331E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	42	88	0	77	8333	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCAGTCTCTCATGGGAGG	0.498000													1	1	1	1	1	1	1.000000	43	97	0	87	0	0	1	0	0	87	5
MUC16	94025	broad.mit.edu	37	19	9085753	9085753	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9085753G>T	ENST00000397910.4	-	1	6265	c.6062C>A	c.(6061-6063)tCt>tAt	p.S2021Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	33	64	0	92	2021	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTTCCAGAAGAGACTGAATT	0.468000													1	1	1	1	1	1	1.000000	39	70	0	102	0	0	0	0	0	102	5
MUC16	94025	broad.mit.edu	37	19	9089181	9089181	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9089181C>A	ENST00000397910.4	-	1	2837	c.2634G>T	c.(2632-2634)gaG>gaT	p.E878D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11	30	0	36	878	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAACAGAAGTCTCAGGTTGAG	0.478000													1	1	1	1	1	1	0.999078	11	31	0	37	0	0	0	0	0	37	5
OR7G2	390882	broad.mit.edu	37	19	9213578	9213578	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9213578G>T	ENST00000305456.2	-	1	404	c.405C>A	c.(403-405)ctC>ctA	p.L135L		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	17	76	0	52	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TTGCTGCAAGGAGACAATTTT	0.507000													1	1	1	1	1	1	0.999981	17	76	0	54	0	0	0	0	0	54	5
ZNF317	57693	broad.mit.edu	37	19	9271130	9271130	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9271130G>T	ENST00000247956.6	+	7	1114	c.809G>T	c.(808-810)aGa>aTa	p.R270I	ZNF317_ENST00000360385.3_Missense_Mutation_p.R238I	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	40	66	0	104	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AGCCACGCAAGAACTCACCTC	0.567000													1	1	1	1	1	1	1.000000	44	69	0	114	1	9.998940e-01	12	15	0	114	5
OR7D2	162998	broad.mit.edu	37	19	9296569	9296569	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9296569A>G	ENST00000344248.2	+	1	291	c.112A>G	c.(112-114)Acg>Gcg	p.T38A		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	12	83	0	55	38					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						GTACCTGGTGACGGTGCTGGG	0.507000													1	1	1	1	1	1	0.999320	12	86	0	60	0	0	0	0	0	60	5
ZNF560	147741	broad.mit.edu	37	19	9577913	9577913	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9577913T>C	ENST00000301480.4	-	10	1923	c.1710A>G	c.(1708-1710)aaA>aaG	p.K570K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	35	63	0	82	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ATTCATAGGGTTTCTCTCCAG	0.398000													1	1	1	1	1	1	1.000000	37	68	0	87	0	0	0	0	0	87	5
ZNF560	147741	broad.mit.edu	37	19	9583919	9583919	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9583919T>C	ENST00000301480.4	-	5	387	c.174A>G	c.(172-174)aaA>aaG	p.K58K		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	61	75	0	110	58	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGACACTGGGTTTAAAGAGCT	0.453000													1	1	1	1	1	1	1.000000	67	81	0	116	0	0	0	1	0	116	5
ZNF426	79088	broad.mit.edu	37	19	9639180	9639180	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9639180G>A	ENST00000593003.1	-	6	1904	c.1427C>T	c.(1426-1428)aCg>aTg	p.T476M	ZNF426_ENST00000253115.2_Missense_Mutation_p.T514M|ZNF426_ENST00000535489.1_Missense_Mutation_p.T514M			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	20	34	1	54	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ACTGGAACACGTGAAGGCTTT	0.428000													1	0	1	1	1	1	0.999974	22	34	1	59	1	8.216970e-01	3	4	1	59	4
ZNF121	7675	broad.mit.edu	37	19	9677366	9677366	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:9677366T>G	ENST00000586602.1	-	6	839	c.423A>C	c.(421-423)gaA>gaC	p.E141D	ZNF121_ENST00000320451.6_Missense_Mutation_p.E141D			P58317	ZN121_HUMAN	zinc finger protein 121	17	24	0	23	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CGTAGGGTTTTTCTACAGTAT	0.378000													1	1	1	1	1	1	0.999993	17	26	0	24	1	8.222113e-01	2	5	0	24	5
COL5A3	50509	broad.mit.edu	37	19	10079070	10079070	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10079070C>A	ENST00000264828.3	-	59	4390	c.4305G>T	c.(4303-4305)aaG>aaT	p.K1435N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	65	109	0	189	1435	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAGGGTCTCCCTTGGGACCAG	0.607000													1	1	1	1	1	1	1.000000	73	117	0	219	0	3.319718e-01	0	3	0	219	5
ICAM4	3386	broad.mit.edu	37	19	10398049	10398049	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10398049A>G	ENST00000393717.2	+	1	370	c.361A>G	c.(361-363)Aca>Gca	p.T121A	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Missense_Mutation_p.T121A|ICAM4_ENST00000340992.4_Missense_Mutation_p.T121A	NM_022377.3	NP_071772.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	12	8	0	22	121	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CGCAGGAAAAACACGCTGGGC	0.672000													1	1	1	1	0	1	0.999881	12	8	0	22	0	0	0	0	0	22	4
ILF3	3609	broad.mit.edu	37	19	10793809	10793809	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10793809A>C	ENST00000449870.1	+	14	1874	c.1557A>C	c.(1555-1557)aaA>aaC	p.K519N	ILF3_ENST00000589998.1_Intron|ILF3_ENST00000318511.3_Intron|ILF3_ENST00000250241.8_Intron|ILF3_ENST00000420083.1_Intron|ILF3_ENST00000590261.1_Intron|ILF3_ENST00000592763.1_Missense_Mutation_p.K519N|ILF3_ENST00000407004.3_Missense_Mutation_p.K519N|ILF3_ENST00000588657.1_Missense_Mutation_p.K519N	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	63	108	0	128	516					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			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGAACGTAAAACAGCAGGGGC	0.562000													1	1	1	1	1	1	1.000000	66	111	0	142	1	1	282	70	0	142	5
ILF3	3609	broad.mit.edu	37	19	10794354	10794354	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:10794354G>A	ENST00000449870.1	+	16	2223	c.1906G>A	c.(1906-1908)Gaa>Aaa	p.E636K	ILF3_ENST00000589998.1_Missense_Mutation_p.E632K|ILF3_ENST00000318511.3_Missense_Mutation_p.E632K|ILF3_ENST00000250241.8_Missense_Mutation_p.E632K|ILF3_ENST00000420083.1_Missense_Mutation_p.E632K|ILF3_ENST00000590261.1_Missense_Mutation_p.E632K|ILF3_ENST00000592763.1_Missense_Mutation_p.E636K|ILF3_ENST00000407004.3_Missense_Mutation_p.E636K|ILF3_ENST00000588657.1_Missense_Mutation_p.E636K	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	21	38	0	53	632	Interaction with PRMT1.|Poly-Pro.				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			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CATGCACAACGAAGTGCCCCC	0.622000													1	1	1	1	1	1	1.000000	25	42	0	57	1	1	147	167	0	57	5
SMARCA4	6597	broad.mit.edu	37	19	11114067	11114067	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:11114067G>T	ENST00000358026.2	+	13	2279	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D	SMARCA4_ENST00000589677.1_Missense_Mutation_p.E665D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E665D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E665D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E665D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E665D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E665D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	19	98	0	67	665	Poly-Glu.				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)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGAAGAAGAGGAAGAGGTAA	0.507000			F, N, Mis		NSCLC								1	1	1	1	1	1	1.000000	23	106	0	76	1	9.999853e-01	18	73	0	76	5
DKFZP761J1410	0	broad.mit.edu	37	19	11473304	11473304	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:11473304G>A	ENST00000251473.5	+	7	1155	c.779G>A	c.(778-780)cGa>cAa	p.R260Q	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.R235Q	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2				29	41	0	84																		GCCGAGTACCGAAACCACTGG	0.652000													1	1	1	1	1	1	1.000000	34	47	0	90	1	9.999999e-01	12	34	0	90	5
ZNF439	90594	broad.mit.edu	37	19	11978295	11978295	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:11978295G>T	ENST00000304030.2	+	3	611	c.411G>T	c.(409-411)atG>atT	p.M137I	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Start_Codon_SNP_p.M1I	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	68	134	0	186	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CTTCTAATATGAACATCAGAG	0.423000													1	1	1	1	1	1	1.000000	72	147	0	203	1	7.269401e-01	5	2	0	203	5
ZNF700	90592	broad.mit.edu	37	19	12059468	12059468	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12059468G>A	ENST00000482090.1	+	3	993	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	ZNF700_ENST00000254321.5_Missense_Mutation_p.R210Q|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	32	67	0	79	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCAAGCATTCGAAGACACATG	0.378000													1	1	1	1	1	1	1.000000	35	72	0	86	1	9.510185e-01	10	3	0	86	5
ZNF433	163059	broad.mit.edu	37	19	12127029	12127029	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12127029C>T	ENST00000419886.2	-	5	839	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000344980.6_Missense_Mutation_p.R218Q			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	16	41	0	39	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AGTGTGAGTTCGTTTGTGGAT	0.403000													1	1	1	1	1	1	0.999975	16	41	0	43	1	8.095627e-01	5	2	0	43	5
ZNF20	7568	broad.mit.edu	37	19	12243602	12243602	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12243602G>A	ENST00000334213.5	-	4	1623	c.1399C>T	c.(1399-1401)Cga>Tga	p.R467*	ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	23	73	0	77	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						TCATGATATCGAATGGAACTG	0.403000													1	1	1	1	1	1	1.000000	24	76	0	82	1	7.779499e-01	4	6	0	82	5
ZNF20	7568	broad.mit.edu	37	19	12243874	12243874	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12243874A>C	ENST00000334213.5	-	4	1351	c.1127T>G	c.(1126-1128)tTt>tGt	p.F376C	ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	11	48	0	20	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						AGCACATCTAAAGCCTTTCCC	0.418000													1	1	1	1	1	1	0.998868	11	49	0	21	1	8.741327e-01	4	15	0	21	5
ZNF20	7568	broad.mit.edu	37	19	12244261	12244261	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12244261C>A	ENST00000334213.5	-	4	964	c.740G>T	c.(739-741)aGa>aTa	p.R247I	ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	29	59	0	62	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						TGTGTGAGTTCTTTCATGTAC	0.403000													1	1	1	1	1	1	1.000000	30	62	0	65	1	9.620808e-01	4	10	0	65	5
ZNF625	90589	broad.mit.edu	37	19	12256655	12256655	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12256655T>G	ENST00000355738.1	-	4	727	c.378A>C	c.(376-378)aaA>aaC	p.K126N	ZNF625_ENST00000439556.2_Missense_Mutation_p.K192N|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000542938.1_Missense_Mutation_p.K126N			Q96I27	ZN625_HUMAN	zinc finger protein 625	53	78	0	95	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						AAAAGTTACATTTGTAGGGTC	0.413000													1	1	1	1	1	1	1.000000	57	85	0	108	1	5.283664e-01	2	2	0	108	5
ZNF136	7695	broad.mit.edu	37	19	12298485	12298485	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12298485C>A	ENST00000343979.4	+	4	1432	c.1292C>A	c.(1291-1293)tCt>tAt	p.S431Y	ZNF136_ENST00000398616.2_Missense_Mutation_p.S365Y	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	4	32	0	25	431					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			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						GCTTTCGTTTCTTCAACATCA	0.388000													0	0	1	0	1	1	0.894057	4	33	0	26	0	1.822793e-01	0	6	0	26	2
ZNF443	10224	broad.mit.edu	37	19	12541287	12541287	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12541287T>G	ENST00000301547.5	-	4	1896	c.1699A>C	c.(1699-1701)Aaa>Caa	p.K567Q	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	15	65	0	47	567					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GAGAATGCTTTCCCACATTCC	0.393000													1	1	1	1	0	1	0.999927	15	65	0	42	0	0	0	0	0	42	4
ZNF443	10224	broad.mit.edu	37	19	12542031	12542031	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12542031T>G	ENST00000301547.5	-	4	1152	c.955A>C	c.(955-957)Agt>Cgt	p.S319R	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	65	108	0	118	319					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CCGGAAACACTGAAGGCTTTC	0.438000													1	1	1	1	1	1	1.000000	67	115	0	123	1	9.642667e-01	8	4	0	123	5
ZNF709	163051	broad.mit.edu	37	19	12575681	12575681	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12575681C>T	ENST00000397732.3	-	4	1226	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	ZNF709_ENST00000428311.1_Missense_Mutation_p.R352Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	38	46	0	65	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CATATGTCTTCGATAGCTTGG	0.368000													1	1	1	1	1	1	1.000000	41	46	0	70	1	2.205128e-01	2	0	0	70	5
ZNF709	163051	broad.mit.edu	37	19	12576017	12576017	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12576017C>T	ENST00000397732.3	-	4	890	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	ZNF709_ENST00000428311.1_Missense_Mutation_p.R240Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	23	39	0	47	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						TTCATGATTTCGAAAAGAACT	0.383000													1	1	1	1	1	1	1.000000	27	41	0	52	0	0	0	0	0	52	5
ZNF564	163050	broad.mit.edu	37	19	12638272	12638272	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12638272C>A	ENST00000339282.7	-	4	846	c.650G>T	c.(649-651)aGa>aTa	p.R217I	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564	47	84	0	57									p.R217I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGTGTGAGTTCTTTCATGTAT	0.403000													1	1	1	1	1	1	1.000000	47	87	0	59	1	8.275092e-01	3	5	0	59	5
ZNF791	163049	broad.mit.edu	37	19	12739611	12739611	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12739611C>A	ENST00000343325.4	+	4	1430	c.1268C>A	c.(1267-1269)tCt>tAt	p.S423Y	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.S391Y|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.S314Y	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	43	76	0	93	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ACCTTCATTTCTCTTGAGAAC	0.403000													1	1	1	1	1	1	1.000000	47	86	0	99	1	9.984280e-01	8	14	0	99	5
TNPO2	30000	broad.mit.edu	37	19	12825950	12825950	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12825950C>T	ENST00000425528.1	-	9	1039	c.682G>A	c.(682-684)Gag>Aag	p.E228K	TNPO2_ENST00000441499.1_Missense_Mutation_p.E228K|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000450764.2_Missense_Mutation_p.E228K|TNPO2_ENST00000592287.1_Missense_Mutation_p.E228K|TNPO2_ENST00000588216.1_Missense_Mutation_p.E228K|TNPO2_ENST00000356861.5_Missense_Mutation_p.E228K			O14787	TNPO2_HUMAN	transportin 2	24	37	0	54	228					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTCCGCACCTCGGGGTCATCA	0.617000													1	1	1	1	1	1	1.000000	25	40	0	58	1	9.998682e-01	10	19	0	58	5
MAST1	22983	broad.mit.edu	37	19	12958187	12958187	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:12958187C>T	ENST00000251472.4	+	5	450	c.411C>T	c.(409-411)ttC>ttT	p.F137F	MAST1_ENST00000591495.1_Silent_p.F133F	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	25	48	0	88	137					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAAACACTTCGGGAGCACCG	0.677000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	29	49	0	96	1	4.798571e-01	2	2	0	96	5
SYCE2	256126	broad.mit.edu	37	19	13015378	13015378	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:13015378G>A	ENST00000293695.7	-	3	252	c.234C>T	c.(232-234)atC>atT	p.I78I	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	54	98	0	164	78					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TGATGTTTTCGATCAGCTCCT	0.552000													1	1	1	1	1	1	1.000000	56	103	0	178	0	4.438384e-01	1	3	0	178	5
CLEC17A	388512	broad.mit.edu	37	19	14705455	14705455	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:14705455G>T	ENST00000547437.1	+	6	399	c.322G>T	c.(322-324)Gag>Tag	p.E108*	CLEC17A_ENST00000397439.2_Nonsense_Mutation_p.E91*|CLEC17A_ENST00000417570.1_Nonsense_Mutation_p.E108*	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	23	59	0	71	108						cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										AAAGGAAACAGAGAAACCCCC	0.572000													1	1	1	1	1	1	1.000000	25	64	0	79	0	0	0	0	0	79	5
OR7C1	26664	broad.mit.edu	37	19	14910876	14910876	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:14910876A>G	ENST00000248073.2	-	1	147	c.73T>C	c.(73-75)Ttc>Ctc	p.F25L	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	39	81	0	103	25					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAGAGAATGAACTGAATCTCT	0.483000													1	1	1	1	1	1	1.000000	42	85	0	110	0	0	0	0	0	110	5
OR7A10	390892	broad.mit.edu	37	19	14952650	14952650	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:14952650G>T	ENST00000248058.1	-	1	39	c.40C>A	c.(40-42)Ctc>Atc	p.L14I		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	26	43	0	49	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					ATTCCCAGGAGAAGAAATTCT	0.443000													1	1	1	1	1	1	1.000000	28	45	0	52	0	0	0	0	0	52	5
OR7C2	26658	broad.mit.edu	37	19	15052725	15052725	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15052725G>A	ENST00000248072.3	+	1	425	c.425G>A	c.(424-426)gGa>gAa	p.G142E		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	52	85	0	122	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CGGCTCTGTGGACTGCTGGTT	0.542000													1	1	1	1	1	1	1.000000	55	87	0	127	0	0	0	0	0	127	5
CYP4F12	66002	broad.mit.edu	37	19	15795927	15795927	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15795927G>A	ENST00000550308.1	+	9	1415	c.1035G>A	c.(1033-1035)gcG>gcA	p.A345A	CYP4F12_ENST00000324632.9_Silent_p.A345A	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12	22	36	0	71											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ACAACCTTGCGAGGCACCCAG	0.592000													1	1	1	1	1	1	1.000000	23	37	0	72	0	0	0	0	0	72	5
CYP4F2	8529	broad.mit.edu	37	19	15997104	15997104	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:15997104C>A	ENST00000221700.5	-	8	1028	c.933G>T	c.(931-933)aaG>aaT	p.K311N	CYP4F2_ENST00000592328.1_Missense_Mutation_p.K311N|CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	97	158	0	249	311					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			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGATAACTTCTTCCCGTCTT	0.532000													1	1	1	1	1	1	1.000000	106	169	0	267	0	0	0	0	0	267	5
NXNL1	115861	broad.mit.edu	37	19	17571484	17571484	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:17571484G>T	ENST00000301944.2	-	1	279	c.195C>A	c.(193-195)ttC>ttA	p.F65L	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1	42	74	0	106	65	Thioredoxin.				cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						GCAGTACATAGAACTCATCTG	0.597000													1	1	1	1	1	1	1.000000	42	76	0	113	0	0	0	0	0	113	5
SLC27A1	376497	broad.mit.edu	37	19	17598015	17598015	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:17598015A>C	ENST00000252595.7	+	3	692	c.595A>C	c.(595-597)Agt>Cgt	p.S199R	SLC27A1_ENST00000598424.1_Missense_Mutation_p.S20R|SLC27A1_ENST00000442725.1_Missense_Mutation_p.S199R	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	10	51	0	61	199	Sufficient for oligomerization (By similarity).				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			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTGGGGAAAAGTTTGATCAA	0.647000													1	0	1	1	0	1	0.998799	11	58	0	66	1	5.117834e-01	2	8	0	66	3
SLC5A5	6528	broad.mit.edu	37	19	17986847	17986847	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:17986847C>A	ENST00000222248.3	+	5	977	c.630C>A	c.(628-630)gtC>gtA	p.V210V		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	25	59	0	88	210					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			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CACGCGGTGTCATGCTTGTGG	0.607000													1	1	1	1	1	1	1.000000	26	64	0	92	0	0	0	0	0	92	5
IL12RB1	0	broad.mit.edu	37	19	18170414	18170414	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:18170414A>G	ENST00000593993.1	-	17	2145	c.1980T>C	c.(1978-1980)cgT>cgC	p.R660R	IL12RB1_ENST00000430026.2_3'UTR|IL12RB1_ENST00000600835.1_3'UTR			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	11	17	0	23	0					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			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						ctgagcctcaacgatcacatc	0.527000													1	0	1	1	1	1	0.999713	12	18	0	23	0	1.723485e-01	0	2	0	23	4
LRRC25	126364	broad.mit.edu	37	19	18507553	18507553	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:18507553C>T	ENST00000339007.3	-	1	874	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	LRRC25_ENST00000595840.1_Missense_Mutation_p.R74Q	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	15	29	0	52	74						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TGGAAGCTCTCGCAGGCCGTT	0.612000													1	1	1	1	1	1	0.999961	15	29	0	56	0	8.531874e-01	0	9	0	56	5
YJEFN3	374887	broad.mit.edu	37	19	19643488	19643488	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:19643488G>A	ENST00000514277.3	+	3	292	c.257G>A	c.(256-258)cGc>cAc	p.R86H	CTC-260F20.3_ENST00000586674.1_3'UTR|CTC-260F20.3_ENST00000555938.1_Intron|YJEFN3_ENST00000436027.4_Missense_Mutation_p.R36H	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	3	9	0	11	86	YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						GAGGATTATCGCTTTGGGCGG	0.642000											OREG0025384	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	1	0	0	1	0.814286	3	9	0	13	1	9.261481e-01	2	17	0	13	1
ZNF101	94039	broad.mit.edu	37	19	19790391	19790391	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:19790391A>C	ENST00000592502.1	+	4	703	c.593A>C	c.(592-594)aAa>aCa	p.K198T	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.K78T			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	30	46	0	72	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AGGTCCTATAAATGTAGGGAA	0.383000													1	1	1	1	1	1	1.000000	31	51	0	75	1	9.302874e-01	2	8	0	75	5
ZNF626	199777	broad.mit.edu	37	19	20808063	20808063	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:20808063C>T	ENST00000601440.1	-	4	766	c.620G>A	c.(619-621)gGc>gAc	p.G207D	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	22	39	0	31	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAAGGCTTTGCCACATTCTTC	0.368000													1	1	1	1	1	1	1.000000	23	41	0	34	0	0	0	0	0	34	5
ZNF85	7639	broad.mit.edu	37	19	21132912	21132912	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21132912T>G	ENST00000601023.1	+	2	2061	c.1415T>G	c.(1414-1416)aTt>aGt	p.I472S	ZNF85_ENST00000345030.6_Missense_Mutation_p.I498S|ZNF85_ENST00000328178.8_Missense_Mutation_p.I531S			Q03923	ZNF85_HUMAN	zinc finger protein 85	19	23	0	30	531						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CATAAGAAAATTCATACTGGA	0.348000													1	1	1	1	1	1	1.000000	20	24	0	36	1	9.678263e-01	6	4	0	36	5
ZNF714	148206	broad.mit.edu	37	19	21300262	21300262	+	Silent	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21300262T>G	ENST00000596143.1	+	5	1117	c.792T>G	c.(790-792)gcT>gcG	p.A264A	ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	9	24	0	14	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTGGTAAAGCTTTTAACCACC	0.373000													1	1	1	1	1	1	0.999186	11	25	0	16	0	0	1	0	0	16	5
ZNF431	170959	broad.mit.edu	37	19	21365476	21365476	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21365476G>T	ENST00000311048.7	+	5	514	c.370G>T	c.(370-372)Gat>Tat	p.D124Y	ZNF431_ENST00000600692.1_Missense_Mutation_p.R131I|ZNF431_ENST00000594425.1_Intron	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	20	25	0	48	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGACATAAAAGATTCTTTTCA	0.333000													1	1	1	1	1	1	1.000000	20	26	0	51	1	9.114059e-01	4	4	0	51	5
ZNF493	284443	broad.mit.edu	37	19	21606234	21606234	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21606234T>G	ENST00000392288.2	+	4	882	c.773T>G	c.(772-774)aTt>aGt	p.I258S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.I130S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	15	38	0	34	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CATAAGAGAATTCATACTGGA	0.368000													1	1	1	1	1	1	0.999977	16	38	0	34	0	0	0	1	0	34	5
ZNF100	163227	broad.mit.edu	37	19	21909894	21909894	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21909894C>T	ENST00000358296.6	-	5	1418	c.1220G>A	c.(1219-1221)gGc>gAc	p.G407D	ZNF100_ENST00000305570.6_Missense_Mutation_p.G343D	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	7	48	0	37	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGCCTTTGCCGCATTCTTC	0.378000													1	1	1	1	1	1	0.983039	7	48	0	37	1	3.122905e-01	4	4	0	37	5
ZNF43	7594	broad.mit.edu	37	19	21991559	21991559	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21991559T>G	ENST00000594012.1	-	7	1776	c.1262A>C	c.(1261-1263)aAa>aCa	p.K421T	ZNF43_ENST00000598381.1_Missense_Mutation_p.K421T|ZNF43_ENST00000595461.1_Missense_Mutation_p.K421T|ZNF43_ENST00000354959.4_Missense_Mutation_p.K427T	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	37	44	0	49	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTCTTCACATTTGTAGGGTTT	0.393000													1	1	1	1	1	1	1.000000	37	48	0	51	0	0	1	0	0	51	5
ZNF43	7594	broad.mit.edu	37	19	21992001	21992001	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:21992001G>A	ENST00000594012.1	-	7	1334	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	ZNF43_ENST00000598381.1_Missense_Mutation_p.R274C|ZNF43_ENST00000595461.1_Missense_Mutation_p.R274C|ZNF43_ENST00000354959.4_Missense_Mutation_p.R280C	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	19	31	0	53	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCTCCAGTGCGAATTATCTTA	0.333000													1	1	1	1	1	1	1.000000	21	34	0	59	0	0	0	1	0	59	5
ZNF257	113835	broad.mit.edu	37	19	22271895	22271895	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22271895G>A	ENST00000594947.1	+	4	1487	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	20	28	0	47	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TACCTTATTCGACATAAGATA	0.378000													1	1	1	1	1	1	1.000000	21	28	0	47	0	0	0	0	0	47	5
ZNF676	163223	broad.mit.edu	37	19	22364033	22364033	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22364033A>C	ENST00000397121.2	-	3	803	c.486T>G	c.(484-486)atT>atG	p.I162M		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	20	42	0	43	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTCTAGTATAAATTCTTTCAT	0.338000													1	1	1	1	1	1	1.000000	21	42	0	44	0	0	0	0	0	44	5
ZNF676	163223	broad.mit.edu	37	19	22364261	22364261	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22364261G>T	ENST00000397121.2	-	3	575	c.258C>A	c.(256-258)acC>acA	p.T86T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	24	52	0	47	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CATCCACATTGGTACAACTAA	0.333000													1	1	1	1	1	1	1.000000	26	57	0	52	0	0	0	1	0	52	5
ZNF729	100287226	broad.mit.edu	37	19	22497351	22497351	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22497351T>C	ENST00000601693.1	+	4	1250	c.1132T>C	c.(1132-1134)Tgt>Cgt	p.C378R	ZNF729_ENST00000357491.6_Missense_Mutation_p.C378R					zinc finger protein 729	26	30	0	42											breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						ACCCTACAAATGTGAAGAATG	0.383000													1	0	0	1	0	1	1.000000	27	30	0	43	0	0	0	0	0	43	2
ZNF729	100287226	broad.mit.edu	37	19	22498328	22498328	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22498328G>T	ENST00000601693.1	+	4	2227	c.2109G>T	c.(2107-2109)aaG>aaT	p.K703N	ZNF729_ENST00000357491.6_Missense_Mutation_p.K703N					zinc finger protein 729	14	24	0	26											breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						GAAGACATAAGATAATTCATA	0.358000													1	0	0	1	0	1	0.999965	15	26	0	32	0	0	0	0	0	32	2
ZNF98	148198	broad.mit.edu	37	19	22574423	22574423	+	Missense_Mutation	SNP	C	C	A	rs138762234		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22574423C>A	ENST00000357774.5	-	4	1735	c.1614G>T	c.(1612-1614)atG>atT	p.M538I		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	14	22	0	31	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M538I(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				CAGTATGAATCATCTTATGTC	0.358000													0	1	0	1	0	1	0.999927	14	24	0	27	0	0	0	0	0	27	2
ZNF99	7652	broad.mit.edu	37	19	22939559	22939559	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22939559T>G	ENST00000397104.3	-	7	2611	c.2612A>C	c.(2611-2613)aAt>aCt	p.N871T						zinc finger protein 99	16	35	0	34											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GGTTGAGGAATTGTTAAAAGC	0.358000													1	1	1	1	1	1	0.999990	17	38	0	36	0	0	0	0	0	36	5
ZNF99	7652	broad.mit.edu	37	19	22940624	22940624	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:22940624T>G	ENST00000397104.3	-	5	1813	c.1814A>C	c.(1813-1815)aAg>aCg	p.K605T	ZNF99_ENST00000596209.1_Missense_Mutation_p.K696T					zinc finger protein 99	27	50	0	40											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGAATTATCTTATGTTTCCT	0.363000													1	1	1	1	1	1	1.000000	29	58	0	44	0	0	0	0	0	44	5
ZNF728	388523	broad.mit.edu	37	19	23158472	23158472	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23158472C>A	ENST00000594710.1	-	4	1812	c.1667G>T	c.(1666-1668)aGa>aTa	p.R556I		NM_001267716.1	NP_001254645.1			zinc finger protein 728	14	29	0	35																		AGTATGAATTCTCTTATGTTC	0.378000													1	0	0	1	0	1	0.999956	15	33	0	38	0	0	0	0	0	38	2
ZNF728	388523	broad.mit.edu	37	19	23158792	23158792	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23158792C>A	ENST00000594710.1	-	4	1492	c.1347G>T	c.(1345-1347)gaG>gaT	p.E449D		NM_001267716.1	NP_001254645.1			zinc finger protein 728	14	34	0	34																		TGTAGTGTTTCTCTCCAGTAT	0.383000													1	0	0	1	0	1	0.999894	14	37	0	34	0	0	0	1	0	34	2
ZNF724P	0	broad.mit.edu	37	19	23405633	23405633	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23405633G>T	ENST00000418100.1	-	4	1531	c.1414C>A	c.(1414-1416)Cat>Aat	p.H472N							17	48	0	51											endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TCTCCAGTATGAATTATCCTA	0.368000													1	0	1	1	1	1	0.999986	17	53	0	53	0	6.506849e-02	0	2	0	53	4
ZNF724P	0	broad.mit.edu	37	19	23405890	23405890	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23405890C>A	ENST00000418100.1	-	4	1274	c.1157G>T	c.(1156-1158)aGa>aTa	p.R386I							17	22	0	16											endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						AGTATGAATTCTCTTATGTTG	0.388000													0	0	1	1	1	1	0.999994	17	24	0	17	0	0	0	0	0	17	3
ZNF724P	0	broad.mit.edu	37	19	23406199	23406199	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23406199T>C	ENST00000418100.1	-	4	965	c.848A>G	c.(847-849)aAa>aGa	p.K283R							7	16	0	11											endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TTCTTTACATTTGTAGGCATT	0.373000													0	0	1	0	1	1	0.986135	7	18	0	11	0	0	0	0	0	11	2
ZNF91	7644	broad.mit.edu	37	19	23543617	23543617	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23543617C>T	ENST00000300619.7	-	4	2369	c.2164G>A	c.(2164-2166)Gct>Act	p.A722T	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.A690T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	7	19	0	29	722						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CGATTAAAAGCTTTGCCACAT	0.338000													0	0	1	1	0	1	0.985917	7	19	0	14	0	0	0	0	0	14	2
ZNF91	7644	broad.mit.edu	37	19	23544756	23544756	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:23544756C>A	ENST00000300619.7	-	4	1230	c.1025G>T	c.(1024-1026)aGa>aTa	p.R342I	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.R310I	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	19	49	0	58	342						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R342I(2)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGTATGAATTCTCTTATGTTT	0.373000													1	1	1	1	1	1	0.999999	21	51	0	59	1	2.159317e-01	3	0	0	59	5
ZNF726	730087	broad.mit.edu	37	19	24102284	24102284	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:24102284G>T	ENST00000594466.1	+	2	218	c.113G>T	c.(112-114)aGa>aTa	p.R38I	CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000575986.1_Missense_Mutation_p.R38I|ZNF726_ENST00000334589.5_Missense_Mutation_p.R38I|ZNF726_ENST00000322487.7_Missense_Mutation_p.R38I|ZNF726_ENST00000531821.2_Missense_Mutation_p.R38I|ZNF726_ENST00000525354.2_Missense_Mutation_p.R38I	NM_001244038.1	NP_001230967.1	E9PLI7	E9PLI7_HUMAN	zinc finger protein 726	49	87	0	111	38					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										GAGAACTACAGAAACCTGGCC	0.353000													1	0	1	1	1	1	1.000000	54	96	0	122	1	8.409533e-01	4	4	0	122	4
ZNF254	9534	broad.mit.edu	37	19	24309134	24309134	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:24309134G>T	ENST00000357002.4	+	4	447	c.332G>T	c.(331-333)aGa>aTa	p.R111I	ZNF254_ENST00000342944.6_Missense_Mutation_p.R26I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	7	40	0	43	111					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATACTGAGAAGATATGGAAAA	0.343000													1	1	1	1	1	1	0.991417	8	42	0	48	1	8.717119e-01	2	20	0	48	5
ZNF254	9534	broad.mit.edu	37	19	24310052	24310052	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:24310052G>A	ENST00000357002.4	+	4	1365	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	ZNF254_ENST00000342944.6_Missense_Mutation_p.R332Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	16	19	0	32	417					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGTTTTAATCGATCTTCAAAT	0.358000													1	1	1	1	1	1	0.999989	16	20	0	33	1	9.996956e-01	3	21	0	33	5
C19orf12	83636	broad.mit.edu	37	19	30193874	30193874	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:30193874G>A	ENST00000323670.9	-	3	310	c.171C>T	c.(169-171)gtC>gtT	p.V57V	C19orf12_ENST00000392276.1_5'UTR|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000592153.1_Silent_p.V57V|C19orf12_ENST00000392278.2_Silent_p.V68V	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	42	73	0	148	57						integral to membrane		p.V68V(1)				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)			ACAGCCCCCCGACAGCCCCCC	0.522000													1	1	1	1	1	1	1.000000	47	88	0	163	0	5.647169e-01	1	4	0	163	5
ZNF536	9745	broad.mit.edu	37	19	30934829	30934829	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:30934829C>T	ENST00000355537.3	+	2	507	c.360C>T	c.(358-360)atC>atT	p.I120I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	19	39	0	73	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGAGCGACATCGAGGACGACG	0.637000													1	1	1	1	1	1	1.000000	21	41	0	82	0	0	0	0	0	82	5
ZNF536	9745	broad.mit.edu	37	19	31025807	31025807	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31025807C>T	ENST00000355537.3	+	3	2371	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	77	92	1	216	742					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCGCTGCTTCGCGACAGAAG	0.577000													1	1	1	1	1	1	1.000000	81	96	1	228	0	0	0	0	1	228	5
ZNF536	9745	broad.mit.edu	37	19	31038888	31038888	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31038888G>A	ENST00000355537.3	+	4	2509	c.2362G>A	c.(2362-2364)Ggc>Agc	p.G788S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	24	53	0	101	788					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGACTATGCCGGCACGCAGTC	0.507000													1	1	1	1	1	1	1.000000	25	57	0	110	0	0	0	0	0	110	5
ZNF536	9745	broad.mit.edu	37	19	31039523	31039523	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31039523A>G	ENST00000355537.3	+	4	3144	c.2997A>G	c.(2995-2997)gcA>gcG	p.A999A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	45	84	0	92	999					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACAGCATTGCATGGCACGGCT	0.567000													1	1	1	1	1	1	1.000000	45	86	0	92	0	0	0	0	0	92	5
TSHZ3	57616	broad.mit.edu	37	19	31769642	31769642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:31769642G>A	ENST00000240587.4	-	2	1384	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	15	181	0	213	353					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			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GAGTTCTTCTGAAGTGCATCG	0.562000													1	1	1	1	0	1	0.999890	15	197	0	237	0	1.659939e-02	0	3	0	237	4
ANKRD27	84079	broad.mit.edu	37	19	33134529	33134529	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:33134529C>T	ENST00000306065.4	-	6	692	c.534G>A	c.(532-534)gcG>gcA	p.A178A	ANKRD27_ENST00000587352.1_Silent_p.A178A	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	79	158	1	213	178					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AGAGAGCATTCGCTGAGTCCT	0.577000													1	0	1	1	1	1	1.000000	81	170	1	240	1	9.810305e-01	6	10	1	240	4
CHST8	64377	broad.mit.edu	37	19	34263626	34263626	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:34263626C>T	ENST00000262622.3	+	4	1691	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CHST8_ENST00000438847.2_Silent_p.F311F|CHST8_ENST00000434302.1_Silent_p.F311F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	21	35	0	66	311					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			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TTCCCGAGTTCGTCCAGTACC	0.652000													1	1	1	1	1	1	1.000000	23	37	0	72	0	0	0	0	0	72	5
KIAA0355	9710	broad.mit.edu	37	19	34832663	34832663	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:34832663G>A	ENST00000299505.6	+	10	2697	c.1824G>A	c.(1822-1824)caG>caA	p.Q608Q		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	33	50	0	80	608										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AGTCAGCTCAGAATTCCAGTA	0.448000													1	1	1	1	1	1	1.000000	35	52	0	88	1	9.975351e-01	4	14	0	88	5
SCGB2B2	284402	broad.mit.edu	37	19	35085454	35085454	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35085454G>A	ENST00000601241.1	-	2	2115	c.15C>T	c.(13-15)tcC>tcT	p.S5S	SCGB2B2_ENST00000379204.2_Silent_p.S5S|SCGB2B2_ENST00000595326.1_Intron			Q4G0G5	SCGBL_HUMAN	secretoglobin, family 2B, member 2	15	44	0	49	5						extracellular region	binding										CACAGGTGGCGGATGTCACCC	0.587000													1	1	1	1	1	1	0.999971	16	50	0	57	0	0	0	0	0	57	5
ZNF181	339318	broad.mit.edu	37	19	35232056	35232056	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35232056G>T	ENST00000392232.3	+	6	1070	c.902G>T	c.(901-903)aGa>aTa	p.R301I	ZNF181_ENST00000459757.1_Missense_Mutation_p.R256I|ZNF181_ENST00000492450.1_Missense_Mutation_p.R257I			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	63	78	0	119	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	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)			CGCCACTGGAGAATTCATACA	0.448000													1	1	1	1	1	1	1.000000	68	84	0	126	0	0	1	0	0	126	5
ZNF599	148103	broad.mit.edu	37	19	35251258	35251258	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35251258A>C	ENST00000329285.7	-	4	821	c.448T>G	c.(448-450)Ttg>Gtg	p.L150V		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	22	81	0	110	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	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)			TTATAACTCAACTTCTCAGGG	0.453000													1	1	1	1	1	1	1.000000	23	89	0	117	0	0	0	1	0	117	5
MAG	4099	broad.mit.edu	37	19	35786762	35786762	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:35786762G>T	ENST00000361922.4	+	4	443	c.293G>T	c.(292-294)cGa>cTa	p.R98L	MAG_ENST00000392213.3_Missense_Mutation_p.R98L|MAG_ENST00000537831.2_Missense_Mutation_p.R73L|MAG_ENST00000597035.1_Intron	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	75	127	0	251	98	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	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)			CTGGGCCTGCGAAACTGCACC	0.642000													1	1	1	1	1	1	1.000000	77	138	0	272	0	0	0	0	0	272	5
TMEM147	10430	broad.mit.edu	37	19	36038136	36038136	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36038136T>C	ENST00000392204.2	+	5	726	c.398T>C	c.(397-399)gTt>gCt	p.V133A	TMEM147_ENST00000392205.1_Missense_Mutation_p.V182A|TMEM147_ENST00000222284.5_Missense_Mutation_p.V182A	NM_001242597.1	NP_001229526.1	Q9BVK8	TM147_HUMAN	transmembrane protein 147	4	79	0	88	182						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	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)			AAGGCCTTTGTTATGGAGTGA	0.527000													0	0	1	0	0	1	0.892003	4	84	0	96	1	9.984946e-01	25	328	0	96	1
HAUS5	23354	broad.mit.edu	37	19	36108227	36108227	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36108227C>T	ENST00000203166.5	+	8	619	c.594C>T	c.(592-594)ttC>ttT	p.F198F	HAUS5_ENST00000379045.2_Silent_p.F198F	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	30	51	0	92	198					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GGGCCCAGTTCCTGCAGAACC	0.632000													1	1	1	1	1	1	1.000000	36	56	0	112	1	9.999112e-01	10	17	0	112	5
HAUS5	23354	broad.mit.edu	37	19	36110954	36110954	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36110954C>A	ENST00000203166.5	+	16	1472	c.1447C>A	c.(1447-1449)Ctg>Atg	p.L483M	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	62	114	0	254	483					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CATCCACCAGCTGCACCCCGC	0.652000													1	1	1	1	1	1	1.000000	69	128	0	293	1	9.999999e-01	20	30	0	293	5
ZBTB32	27033	broad.mit.edu	37	19	36205547	36205547	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36205547A>C	ENST00000392197.2	+	3	337	c.19A>C	c.(19-21)Aga>Cga	p.R7R	ZBTB32_ENST00000262630.3_Silent_p.R7R			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	66	148	0	242	7					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			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	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)			GCCCCCCATAAGACTGCCCAG	0.582000													1	1	1	1	1	1	1.000000	71	164	0	272	0	0	0	1	0	272	5
ARHGAP33	115703	broad.mit.edu	37	19	36273380	36273380	+	Silent	SNP	G	G	A	rs138321382	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:36273380G>A	ENST00000007510.4	+	13	1335	c.1191G>A	c.(1189-1191)ccG>ccA	p.P397P	ARHGAP33_ENST00000378944.5_Silent_p.P261P|ARHGAP33_ENST00000314737.5_Silent_p.P397P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	28	37	0	49	397	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GAGAGCTTCCGAACCCTCTGC	0.607000													1	0	1	1	1	1	1.000000	31	40	0	53	1	9.766855e-01	4	7	0	53	4
ZNF461	92283	broad.mit.edu	37	19	37130011	37130011	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37130011A>C	ENST00000588268.1	-	6	1463	c.1236T>G	c.(1234-1236)ccT>ccG	p.P412P	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Silent_p.P389P	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	32	59	0	68	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GACATTCATAAGGTTTCTTGC	0.418000													1	1	1	1	1	1	1.000000	33	63	0	74	0	1.226551e-01	0	2	0	74	5
ZNF567	163081	broad.mit.edu	37	19	37210849	37210849	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37210849T>G	ENST00000585696.1	+	3	2360	c.1130T>G	c.(1129-1131)cTt>cGt	p.L377R	ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.L377R|ZNF567_ENST00000588311.1_Missense_Mutation_p.L377R|ZNF567_ENST00000392163.2_Missense_Mutation_p.L377R|ZNF567_ENST00000536254.2_Missense_Mutation_p.L408R			Q8N184	ZN567_HUMAN	zinc finger protein 567	24	35	0	53	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGGCAAATCTTACTGTACAT	0.423000													1	1	1	1	1	1	1.000000	29	36	0	54	0	8.225300e-01	1	5	0	54	5
ZNF850	342892	broad.mit.edu	37	19	37240057	37240057	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37240057G>A	ENST00000591344.1	-	5	2043	c.1885C>T	c.(1885-1887)Cgt>Tgt	p.R629C	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	10	14	0	14	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGTCGTAAACGAAGTCTAAAG	0.408000													0	0	1	1	1	1	0.999408	11	16	0	14	0	0	0	0	0	14	3
ZNF420	147923	broad.mit.edu	37	19	37581896	37581896	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37581896G>T	ENST00000337995.3	+	4	224		c.e4-1		ZNF420_ENST00000304239.7_Splice_Site	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	20	34	0	46						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTTGTTTCAGAAATTAGTGA	0.353000													1	1	1	1	1	1	1.000000	21	35	0	50	0	0	0	0	0	50	5
ZNF585A	199704	broad.mit.edu	37	19	37644184	37644184	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:37644184C>A	ENST00000356958.4	-	5	875	c.617G>T	c.(616-618)aGa>aTa	p.R206I	ZNF585A_ENST00000355533.2_Missense_Mutation_p.R151I|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.R151I|ZNF585A_ENST00000292841.5_Missense_Mutation_p.R151I			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	23	54	0	64	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTATGAATTCTCTGATGCCT	0.388000													1	1	1	1	1	1	1.000000	23	56	0	71	0	0	0	0	0	71	5
ZNF793	390927	broad.mit.edu	37	19	38027836	38027836	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38027836G>A	ENST00000445217.1	+	4	311	c.276G>A	c.(274-276)cgG>cgA	p.R92R	ZNF793_ENST00000542455.1_Silent_p.R92R|ZNF793_ENST00000588578.1_3'UTR|ZNF793_ENST00000587143.1_Silent_p.R92R|ZNF793_ENST00000589319.1_Silent_p.R92R			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	10	13	0	19	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAAAGACGGCAAGACATGC	0.393000													1	1	1	1	1	1	0.999505	11	13	0	20	0	0	0	1	0	20	5
ZNF571	51276	broad.mit.edu	37	19	38056098	38056098	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38056098C>A	ENST00000328550.2	-	4	1331	c.1232G>T	c.(1231-1233)aGa>aTa	p.R411I	ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.R411I|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000358744.3_Missense_Mutation_p.R411I|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.R411I|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000589750.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	13	17	0	30	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTATGAATTCTTTGATGTTG	0.373000													1	1	1	1	1	1	0.999978	15	18	0	30	0	2.158730e-01	1	1	0	30	5
ZNF781	163115	broad.mit.edu	37	19	38160724	38160724	+	Missense_Mutation	SNP	C	C	A	rs138038465		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38160724C>A	ENST00000358582.4	-	4	1074	c.326G>T	c.(325-327)aGa>aTa	p.R109I	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.R109I	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	30	61	0	81	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AGTATGAATTCTTTGATGTCG	0.373000													1	1	1	1	1	1	1.000000	31	63	0	84	0	0	1	0	0	84	5
C19orf33	64073	broad.mit.edu	37	19	38795572	38795572	+	Missense_Mutation	SNP	G	G	A	rs1064154		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38795572G>A	ENST00000301246.5	+	4	390	c.289G>A	c.(289-291)Gag>Aag	p.E97K	C19orf33_ENST00000588605.1_3'UTR	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	chromosome 19 open reading frame 33	5	29	0	38	97						nucleus						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			gggcaagaaggagaagggcaa	0.597000													1	1	0	1	0	1	0.969694	6	29	0	38	1	9.999999e-01	68	359	0	38	3
KCNK6	9424	broad.mit.edu	37	19	38817882	38817882	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38817882G>A	ENST00000263372.3	+	3	888	c.781G>A	c.(781-783)Gac>Aac	p.D261N		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	19	56	0	86	261						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CCACGTGTCCGACCTCCACGG	0.657000													1	1	1	1	1	1	0.999998	20	67	0	97	1	9.996602e-01	25	24	0	97	5
RYR1	6261	broad.mit.edu	37	19	38985162	38985162	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38985162G>A	ENST00000355481.4	+	39	6576	c.6445G>A	c.(6445-6447)Gtg>Atg	p.V2149M	RYR1_ENST00000360985.3_Missense_Mutation_p.V2149M|RYR1_ENST00000359596.3_Missense_Mutation_p.V2149M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	26	39	0	52	2149	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			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCGTCCTCCGTGGAAGACAC	0.657000													1	1	1	1	1	1	1.000000	28	41	0	57	0	0	0	0	0	57	5
RYR1	6261	broad.mit.edu	37	19	38990408	38990408	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:38990408C>T	ENST00000355481.4	+	44	7292	c.7161C>T	c.(7159-7161)tcC>tcT	p.S2387S	RYR1_ENST00000360985.3_Silent_p.S2387S|RYR1_ENST00000359596.3_Silent_p.S2387S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	9	21	0	27	2387	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			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCGCATCTCCGAGGACCCTG	0.706000													1	1	1	1	1	1	0.996543	9	22	0	28	0	0	0	0	0	28	5
SIRT2	22933	broad.mit.edu	37	19	39384111	39384111	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:39384111G>A	ENST00000249396.7	-	4	470	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	SIRT2_ENST00000392081.2_Missense_Mutation_p.R20C|SIRT2_ENST00000358931.5_Missense_Mutation_p.R57C	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	13	16	0	42	57					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			TCCAGCAGACGCTCCTTCTGG	0.617000													1	1	1	1	1	1	0.999991	16	18	0	47	1	9.999958e-01	18	19	0	47	5
FBXO27	126433	broad.mit.edu	37	19	39517572	39517572	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:39517572G>T	ENST00000292853.4	-	5	765	c.646C>A	c.(646-648)Cta>Ata	p.L216I	FBXO27_ENST00000600828.1_Missense_Mutation_p.L215I|FBXO27_ENST00000509137.2_Missense_Mutation_p.L216I	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	52	122	0	144	216	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	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)			AATTTATCTAGAACAGTCTGG	0.557000													1	1	1	1	1	1	1.000000	56	132	0	156	1	9.467497e-01	7	7	0	156	5
IFNL3	282617	broad.mit.edu	37	19	39735436	39735436	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:39735436C>A	ENST00000413851.2	-	1	210	c.172G>T	c.(172-174)Gat>Tat	p.D58Y		NM_172139.2	NP_742151.2			interferon, lambda 3	19	26	0	41																		ACTAAGGCATCTTTGGCCCTC	0.627000													0	1	1	1	0	1	1.000000	20	27	0	38	0	0	0	0	0	38	3
DYRK1B	9149	broad.mit.edu	37	19	40318227	40318227	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40318227C>T	ENST00000593685.1	-	7	1345	c.877G>A	c.(877-879)Gcc>Acc	p.A293T	DYRK1B_ENST00000323039.5_Missense_Mutation_p.A293T|DYRK1B_ENST00000430012.2_Missense_Mutation_p.A293T|DYRK1B_ENST00000597639.1_Missense_Mutation_p.A293T|DYRK1B_ENST00000348817.3_Missense_Mutation_p.A293T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	20	62	0	81	293	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	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)			ATGTCAATGGCCAGGTCGTAG	0.592000													1	1	1	1	1	1	0.999999	21	66	0	87	1	9.999973e-01	27	51	0	87	5
FCGBP	8857	broad.mit.edu	37	19	40363943	40363943	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40363943T>C	ENST00000221347.6	-	31	14706	c.14699A>G	c.(14698-14700)gAg>gGg	p.E4900G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	31	53	0	80	4900	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	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)			TGCATTCTTCTCAAGCACGAT	0.587000													1	1	1	1	1	1	1.000000	34	54	0	84	1	1	29	34	0	84	5
ZNF546	339327	broad.mit.edu	37	19	40514459	40514459	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40514459G>A	ENST00000347077.4	+	6	597	c.381G>A	c.(379-381)agG>agA	p.R127R	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Silent_p.R101R	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	29	52	0	66	127	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGGGACAAGGAATTGGTTCA	0.463000													1	1	1	1	1	1	1.000000	29	55	0	76	0	0	0	0	0	76	5
ZNF780B	163131	broad.mit.edu	37	19	40542471	40542471	+	Translation_Start_Site	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40542471A>C	ENST00000221355.6	-	0	552				ZNF780B_ENST00000598845.1_3'UTR|ZNF780B_ENST00000434248.1_Missense_Mutation_p.L99V			Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	6	8	0	15						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTTTGGGTAAATTTATTTCA	0.313000													0	1	1	1	1	1	0.977511	6	8	0	15	0	4.117647e-01	0	3	0	15	4
MAP3K10	4294	broad.mit.edu	37	19	40719431	40719431	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:40719431C>T	ENST00000253055.3	+	9	2133	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	15	17	0	28	615					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			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CAGAGGAGTTCGCGGAGGCAG	0.706000													1	1	1	1	1	1	0.999999	18	17	0	31	1	9.567938e-01	3	5	0	31	5
CYP2A7	1549	broad.mit.edu	37	19	41386003	41386003	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:41386003T>C	ENST00000301146.4	-	4	1181	c.640A>G	c.(640-642)Acc>Gcc	p.T214A	CYP2A7_ENST00000291764.3_Missense_Mutation_p.T163A|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	37	70	0	134	214						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCGTGGAGGTTGACGTGAAC	0.572000													1	1	1	1	0	1	1.000000	41	80	0	132	0	0	0	0	0	132	4
ATP5SL	55101	broad.mit.edu	37	19	41944166	41944166	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:41944166A>G	ENST00000221943.9	-	2	177	c.172T>C	c.(172-174)Tac>Cac	p.Y58H	ATP5SL_ENST00000589970.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000592922.2_Missense_Mutation_p.Y58H|ATP5SL_ENST00000590641.2_Missense_Mutation_p.Y64H|ATP5SL_ENST00000438807.3_Missense_Mutation_p.Y58H|ATP5SL_ENST00000417807.3_Missense_Mutation_p.Y64H|ATP5SL_ENST00000595425.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000597457.1_Missense_Mutation_p.Y58H|ATP5SL_ENST00000301183.11_Missense_Mutation_p.Y64H	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	4	122	0	118	58										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						TGGAGCAAGTAATCCCTCAGA	0.537000													0	0	1	0	1	1	0.891493	4	133	0	138	1	6.614251e-01	7	64	0	138	2
DMRTC2	63946	broad.mit.edu	37	19	42352862	42352862	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:42352862G>T	ENST00000269945.3	+	5	498		c.e5-1		DMRTC2_ENST00000596827.1_Splice_Site|DMRTC2_ENST00000602098.1_3'UTR	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	64	119	0	197						cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TGCCCCTGCAGAACTCCTGTG	0.622000													1	1	1	1	1	1	1.000000	73	132	0	233	0	0	0	0	0	233	5
ATP1A3	478	broad.mit.edu	37	19	42485761	42485761	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:42485761A>G	ENST00000545399.1	-	11	1522	c.1369T>C	c.(1369-1371)Tct>Cct	p.S457P	ATP1A3_ENST00000302102.5_Missense_Mutation_p.S444P|ATP1A3_ENST00000602133.1_Missense_Mutation_p.S414P|ATP1A3_ENST00000543770.1_Missense_Mutation_p.S455P	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	18	32	0	47	444					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCAGGGCAGACTCAGACGCA	0.572000													1	1	1	1	1	1	0.999998	19	35	0	48	0	0	0	0	0	48	5
PSG6	5675	broad.mit.edu	37	19	43411078	43411078	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:43411078G>T	ENST00000187910.2	-	5	1301	c.1236C>A	c.(1234-1236)gtC>gtA	p.V412V	PSG6_ENST00000292125.2_Silent_p.V412V|PSG6_ENST00000402603.4_Silent_p.V319V	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6	102	197	0	247											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACTTACCAGAGACTTTGACTA	0.443000													1	1	1	1	1	1	1.000000	108	214	0	286	0	0	0	0	0	286	5
ZNF227	7770	broad.mit.edu	37	19	44740349	44740349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44740349C>A	ENST00000313040.7	+	6	1971	c.1766C>A	c.(1765-1767)tCa>tAa	p.S589*	ZNF227_ENST00000391961.2_Nonsense_Mutation_p.S538*|ZNF227_ENST00000589005.1_Nonsense_Mutation_p.S538*|ZNF235_ENST00000589799.1_3'UTR	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	33	35	0	57	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AGTTGGAGATCAAATCTTCAT	0.388000													1	1	1	1	1	1	1.000000	34	36	0	60	1	9.973342e-01	9	5	0	60	5
ZNF233	353355	broad.mit.edu	37	19	44777266	44777266	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44777266C>A	ENST00000391958.2	+	5	580	c.453C>A	c.(451-453)gtC>gtA	p.V151V	ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	24	38	0	49	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CTAGTCAGGTCTCTGAAGATG	0.418000													1	1	1	1	1	1	1.000000	26	38	0	50	0	0	0	0	0	50	5
ZNF112	7665	broad.mit.edu	37	19	44833664	44833664	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44833664T>G	ENST00000354340.4	-	4	697	c.646A>C	c.(646-648)Aaa>Caa	p.K216Q	ZNF112_ENST00000536500.1_Missense_Mutation_p.K239Q|ZNF112_ENST00000337401.4_Missense_Mutation_p.K222Q	NM_013380.3	NP_037512.3			zinc finger protein 112	25	59	0	74																		ACTTCCAGTTTATCATTGTGA	0.368000													1	1	1	1	1	1	1.000000	25	63	0	81	0	0	1	0	0	81	5
ZNF285	26974	broad.mit.edu	37	19	44891906	44891906	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44891906C>A	ENST00000330997.4	-	4	565	c.501G>T	c.(499-501)aaG>aaT	p.K167N	ZNF285_ENST00000591679.1_Missense_Mutation_p.K174N|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.K167N	NM_152354.3	NP_689567.3			zinc finger protein 285	27	55	0	74											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGTAAATTCCCTTATATCTTC	0.463000													0	1	1	1	1	1	1.000000	29	57	0	65	0	0	0	0	0	65	4
ZNF229	7772	broad.mit.edu	37	19	44933963	44933963	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44933963T>C	ENST00000291187.4	-	6	1297	c.975A>G	c.(973-975)agA>agG	p.R325R	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Silent_p.R331R|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	5	64	0	55	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GCGTGTTCTGTCTGACGCCCC	0.507000													1	1	1	1	0	1	0.939911	5	65	0	56	0	0	0	0	0	56	4
ZNF180	7733	broad.mit.edu	37	19	44981496	44981496	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:44981496C>A	ENST00000221327.4	-	5	1483	c.1202G>T	c.(1201-1203)aGa>aTa	p.R401I	ZNF180_ENST00000592529.1_Missense_Mutation_p.R374I|ZNF180_ENST00000391956.4_Missense_Mutation_p.R376I	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	17	40	0	40	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R401I(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGTATGAGTTCTCTGATGGGA	0.448000													1	1	1	1	1	1	0.999999	20	45	0	44	1	9.754712e-01	5	12	0	44	5
KLC3	147700	broad.mit.edu	37	19	45853653	45853653	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:45853653G>T	ENST00000470402.1	+	8	1340	c.1240G>T	c.(1240-1242)Gaa>Taa	p.E414*	KLC3_ENST00000585434.1_Nonsense_Mutation_p.E399*|ERCC2_ENST00000391945.4_3'UTR|KLC3_ENST00000391946.2_Nonsense_Mutation_p.E400*			Q6P597	KLC3_HUMAN	kinesin light chain 3	20	57	0	70	400						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCTGTACAAAGAAATCCTCCA	0.562000													1	1	1	1	1	1	0.999998	20	60	0	71	1	9.973907e-01	11	23	0	71	5
PRKD2	25865	broad.mit.edu	37	19	47204175	47204175	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47204175C>T	ENST00000433867.1	-	8	1479	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	PRKD2_ENST00000600194.1_Silent_p.E177E|PRKD2_ENST00000595515.1_Silent_p.E334E|PRKD2_ENST00000291281.4_Silent_p.E334E|PRKD2_ENST00000601806.1_Silent_p.E177E	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN	protein kinase D2	4	42	0	63	334					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			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		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)		TCTTGTCAGCCTCGCTGAAAT	0.627000													0	0	1	0	0	1	0.892964	4	49	0	71	1	9.682571e-01	18	67	0	71	1
STRN4	29888	broad.mit.edu	37	19	47223872	47223872	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47223872T>G	ENST00000391910.3	-	17	2720	c.2270A>C	c.(2269-2271)aAg>aCg	p.K757T	STRN4_ENST00000539396.1_Missense_Mutation_p.K631T|STRN4_ENST00000263280.6_Missense_Mutation_p.K750T			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	18	26	0	54	750						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)		TACGAAGACCTTGGCCAGGGC	0.677000													1	1	1	1	1	1	0.999997	18	29	0	62	1	1	124	145	0	62	5
FKRP	79147	broad.mit.edu	37	19	47258711	47258711	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47258711C>T	ENST00000318584.5	+	4	301	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.R2W	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	8	16	0	23	2						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		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)		CGGCCCCATGCGGCTCACCCG	0.657000													1	1	1	1	1	1	0.996951	9	17	0	24	1	9.991496e-01	18	15	0	24	5
ARHGAP35	2909	broad.mit.edu	37	19	47424921	47424921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:47424921C>T	ENST00000404338.3	+	1	2989	c.2989C>T	c.(2989-2991)Cga>Tga	p.R997*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	32	39	0	47	997					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										CAGCCTGTTTCGAGAAGACAC	0.478000													1	1	1	1	1	1	1.000000	35	40	0	50	1	9.941173e-01	4	9	0	50	5
SULT2A1	6822	broad.mit.edu	37	19	48378009	48378009	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48378009T>C	ENST00000222002.3	-	5	789	c.650A>G	c.(649-651)aAc>aGc	p.N217S		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	11	40	0	55	217					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		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)		AAAGGAGCTGTTCTTGAGAAT	0.378000													1	1	1	1	1	1	0.999466	12	45	0	61	0	0	0	0	0	61	5
SULT2A1	6822	broad.mit.edu	37	19	48385443	48385443	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48385443T>C	ENST00000222002.3	-	3	509	c.370A>G	c.(370-372)Aga>Gga	p.R124G		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	9	65	0	69	124					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		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)		AAAACATCTCTGGGATTTCTC	0.328000													1	1	1	1	1	1	0.998725	11	70	0	77	0	0	0	0	0	77	5
ELSPBP1	64100	broad.mit.edu	37	19	48525433	48525433	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48525433C>T	ENST00000339841.2	+	6	699	c.521C>T	c.(520-522)tCc>tTc	p.S174F	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.S26F	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	31	64	0	74	174					single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CTAGGAATTTCCGCGTTGGTC	0.453000													1	1	1	1	1	1	1.000000	32	70	0	81	0	0	0	0	0	81	5
CCDC114	93233	broad.mit.edu	37	19	48800598	48800598	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48800598T>C	ENST00000315396.7	-	14	2330	c.1648A>G	c.(1648-1650)Act>Gct	p.T550A		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	7	92	0	72	550										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		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)		TCTCTGCTAGTCTTGTGGCTC	0.647000													1	1	1	1	0	1	0.981800	7	99	0	80	1	5.754018e-01	2	25	0	80	4
CCDC114	93233	broad.mit.edu	37	19	48806990	48806990	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:48806990A>G	ENST00000315396.7	-	8	1476	c.794T>C	c.(793-795)cTt>cCt	p.L265P		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	40	70	0	114	265										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		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)		CTCGTAGCAAAGCACCAGCCT	0.627000													1	1	1	1	1	1	1.000000	43	78	0	119	1	9.916872e-01	10	7	0	119	5
ALDH16A1	126133	broad.mit.edu	37	19	49963000	49963000	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:49963000C>T	ENST00000293350.4	+	4	557	c.394C>T	c.(394-396)Cga>Tga	p.R132*	ALDH16A1_ENST00000455361.2_Nonsense_Mutation_p.R132*|ALDH16A1_ENST00000540132.1_Intron|ALDH16A1_ENST00000433981.2_5'UTR	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	25	47	0	79	132							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		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)		GCGGGCTGTTCGAGAGGTTCG	0.642000													1	1	1	1	1	1	1.000000	26	48	0	85	1	9.999998e-01	3	53	0	85	5
TSKS	60385	broad.mit.edu	37	19	50251695	50251695	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:50251695T>C	ENST00000246801.3	-	3	513	c.431A>G	c.(430-432)aAa>aGa	p.K144R		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	12	45	0	39	144							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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)		GATGGAGTCTTTGGCGCGGAC	0.562000													1	1	1	1	1	1	0.999455	12	47	0	48	0	4.812269e-02	0	2	0	48	5
NUP62	23636	broad.mit.edu	37	19	50412779	50412779	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:50412779T>G	ENST00000596217.1	-	2	2173	c.286A>C	c.(286-288)Aag>Cag	p.K96Q	NUP62_ENST00000352066.3_Missense_Mutation_p.K96Q|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Missense_Mutation_p.K96Q|NUP62_ENST00000597723.1_Missense_Mutation_p.K96Q|CTC-326K19.6_ENST00000451973.1_3'UTR|NUP62_ENST00000413454.1_Missense_Mutation_p.K96Q|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000597029.1_Missense_Mutation_p.K96Q			P37198	NUP62_HUMAN	nucleoporin 62kDa	61	90	0	121	96	15 X 9 AA approximate repeats.|Thr-rich.				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			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		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)		AAGTTGAGCTTTGAAGCACCG	0.572000													1	1	1	1	1	1	1.000000	64	95	0	129	1	1	42	52	0	129	5
MYBPC2	4606	broad.mit.edu	37	19	50946777	50946777	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:50946777A>C	ENST00000357701.5	+	10	980	c.929A>C	c.(928-930)aAg>aCg	p.K310T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	10	16	0	10	310	Ig-like C2-type 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)		GTTGGTAAGAAGCGAATTCTT	0.498000													0	1	1	1	1	1	0.998609	10	17	0	10	0	1.517241e-01	1	1	0	10	4
MYBPC2	4606	broad.mit.edu	37	19	50965211	50965211	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:50965211A>C	ENST00000357701.5	+	26	3197	c.3146A>C	c.(3145-3147)aAg>aCg	p.K1049T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	6	14	0	7	1049	Ig-like C2-type 7.				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)		ATGGCTCCCAAGTTCCTGACA	0.587000											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	1	0	0	0	1	0.973097	6	15	0	8	1	7.648966e-01	6	3	0	8	1
SHANK1	50944	broad.mit.edu	37	19	51205732	51205732	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51205732T>G	ENST00000293441.1	-	11	1757	c.1739A>C	c.(1738-1740)aAg>aCg	p.K580T	SHANK1_ENST00000391814.1_Missense_Mutation_p.K580T|SHANK1_ENST00000359082.3_Missense_Mutation_p.K580T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	4	25	0	24	580	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACCTTTGATCTTCTCGCCCTT	0.627000													0	0	1	0	1	1	0.894387	4	30	0	27	0	0	0	0	0	27	2
SHANK1	50944	broad.mit.edu	37	19	51218983	51218983	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51218983C>T	ENST00000293441.1	-	3	482	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	SHANK1_ENST00000391814.1_Missense_Mutation_p.R155Q|SHANK1_ENST00000359082.3_Missense_Mutation_p.R155Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	44	79	0	81	155					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGTCTTGTATCGGAACTGAGG	0.532000													1	1	1	1	1	1	1.000000	51	92	0	91	0	0	0	0	0	91	5
GPR32	2854	broad.mit.edu	37	19	51274539	51274539	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51274539C>T	ENST00000270590.4	+	1	819	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	25	50	0	53	228						integral to plasma membrane	N-formyl peptide receptor activity	p.P228S(2)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTTCCTGGGGCCCTTAGCAAT	0.597000													1	1	1	1	1	1	1.000000	26	53	0	55	0	0	0	0	0	55	5
CEACAM18	729767	broad.mit.edu	37	19	51986322	51986322	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:51986322T>C	ENST00000396477.4	+	4	746	c.725T>C	c.(724-726)aTt>aCt	p.I242T	CEACAM18_ENST00000451626.1_Missense_Mutation_p.I303T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	24	175	0	194	303						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TTCAACGGCATTGTGACAGCT	0.537000													1	1	1	1	1	1	1.000000	25	195	0	223	0	0	0	0	0	223	5
HAS1	3036	broad.mit.edu	37	19	52216986	52216986	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52216986G>A	ENST00000540069.2	-	5	1488	c.1428C>T	c.(1426-1428)ttC>ttT	p.F476F	HAS1_ENST00000601714.1_Silent_p.F484F|HAS1_ENST00000222115.1_Silent_p.F477F			Q92839	HAS1_HUMAN	hyaluronan synthase 1	8	14	0	19	477					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CTAGCGCCAGGAACTTGGCAG	0.692000													1	0	1	1	1	1	0.998722	10	15	0	20	0	0	0	0	0	20	4
FPR2	2358	broad.mit.edu	37	19	52271959	52271959	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52271959C>A	ENST00000598776.1	+	2	820	c.48C>A	c.(46-48)tcC>tcA	p.S16S	FPR2_ENST00000598953.1_Silent_p.S16S|FPR2_ENST00000340023.6_Silent_p.S16S	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	24	50	0	57	16					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						AAGAAGTGTCCTATGAGTCTG	0.517000													1	1	1	1	1	1	1.000000	26	54	0	61	0	0	0	1	0	61	5
FPR3	2359	broad.mit.edu	37	19	52327920	52327920	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52327920C>T	ENST00000339223.4	+	2	1098	c.919C>T	c.(919-921)Cgt>Tgt	p.R307C	FPR3_ENST00000595991.1_Missense_Mutation_p.R307C	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	33	61	0	109	307					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTTTATGGGTCGTAACTTCCA	0.473000													1	0	1	1	1	1	1.000000	35	65	0	118	0	5.734688e-01	0	5	0	118	4
ZNF614	80110	broad.mit.edu	37	19	52519497	52519497	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52519497C>A	ENST00000270649.6	-	5	1898	c.1354G>T	c.(1354-1356)Gaa>Taa	p.E452*	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	43	75	0	73	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TAGGGTTTTTCTCCTGTATGA	0.403000													1	1	1	1	1	1	1.000000	45	79	0	77	1	7.027890e-01	4	1	0	77	5
ZNF841	284371	broad.mit.edu	37	19	52569565	52569565	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52569565A>C	ENST00000389534.4	-	7	2029	c.1570T>G	c.(1570-1572)Tgg>Ggg	p.W524G	ZNF841_ENST00000426391.2_Missense_Mutation_p.W408G|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.W524G	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	11	23	0	24	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AATGAGCCCCAATTAAAGGCT	0.403000													1	0	1	1	1	1	0.999228	11	23	0	25	0	6.320647e-01	1	5	0	25	4
ZNF616	90317	broad.mit.edu	37	19	52619047	52619047	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52619047C>A	ENST00000600228.1	-	4	1631	c.1370G>T	c.(1369-1371)aGa>aTa	p.R457I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	37	60	0	76	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGTATGAATTCTCCAATGCAC	0.403000													1	1	1	1	1	1	1.000000	39	65	0	83	1	8.999951e-01	5	4	0	83	5
PPP2R1A	5518	broad.mit.edu	37	19	52705261	52705261	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52705261G>A	ENST00000322088.6	+	2	201	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.E27K	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	16	22	0	38	48	PP2A subunit B binding.|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			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GAAAGGACCCGAAGTGAGCTT	0.512000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	0.999993	17	26	0	47	1	1	198	203	0	47	5
ZNF528	84436	broad.mit.edu	37	19	52918955	52918955	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:52918955C>A	ENST00000360465.3	+	7	1276	c.850C>A	c.(850-852)Ctt>Att	p.L284I	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	26	57	0	71	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CAGTTCAAAGCTTGCACAACA	0.378000													1	1	1	1	1	1	1.000000	27	61	0	76	1	4.918286e-01	3	2	0	76	5
ZNF808	388558	broad.mit.edu	37	19	53057257	53057257	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53057257G>T	ENST00000359798.4	+	5	1268	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	6	96	0	75	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R363T(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CGCCATCAAAGACTTCATACT	0.383000													0	1	1	0	0	1	0.981800	7	99	0	75	0	0	0	0	0	75	2
ZNF28	7576	broad.mit.edu	37	19	53303889	53303889	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53303889C>T	ENST00000438150.2	-	2	1943	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	ZNF28_ENST00000457749.2_Silent_p.R403R|ZNF28_ENST00000414252.2_Silent_p.R350R|ZNF28_ENST00000360272.4_Silent_p.R350R			P17035	ZNF28_HUMAN	zinc finger protein 28	41	83	0	88	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CAGTATGAATCCTCTTATGTC	0.373000													1	1	1	1	1	1	1.000000	41	85	0	92	1	1.093750e-01	2	0	0	92	5
ZNF816	125893	broad.mit.edu	37	19	53454211	53454211	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53454211C>T	ENST00000357666.4	-	5	1117	c.817G>A	c.(817-819)Gta>Ata	p.V273I	ZNF816_ENST00000444460.2_Missense_Mutation_p.V273I|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	31	75	0	69	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TGATGATATACAATGTATTGC	0.383000													1	1	1	1	1	1	1.000000	33	83	0	74	1	6.382736e-01	4	3	0	74	5
ZNF816	125893	broad.mit.edu	37	19	53454447	53454447	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53454447C>A	ENST00000357666.4	-	5	881	c.581G>T	c.(580-582)aGa>aTa	p.R194I	ZNF816_ENST00000444460.2_Missense_Mutation_p.R194I|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	37	76	0	91	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R194I(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACAAGAAATTCTTTGGGATTC	0.373000													1	0	1	1	1	1	1.000000	38	78	0	97	1	7.912228e-01	4	4	0	97	4
ZNF160	90338	broad.mit.edu	37	19	53578315	53578315	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53578315G>A	ENST00000601421.1	-	1	905	c.29C>T	c.(28-30)tCt>tTt	p.S10F	ZNF160_ENST00000599056.1_Missense_Mutation_p.S46F|ZNF160_ENST00000418871.1_Missense_Mutation_p.S46F|ZNF160_ENST00000429604.1_Missense_Mutation_p.S46F|ZNF160_ENST00000355147.5_Missense_Mutation_p.S46F			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	42	72	0	88	46	KRAB.				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		CTCACCCAGAGAAACAAGGTT	0.483000													1	1	1	1	1	1	1.000000	47	79	0	97	1	8.991284e-01	4	5	0	97	5
ZNF347	84671	broad.mit.edu	37	19	53644730	53644730	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53644730G>T	ENST00000452676.2	-	5	1780	c.1354C>A	c.(1354-1356)Cac>Aac	p.H452N	ZNF347_ENST00000601469.2_Missense_Mutation_p.H452N|ZNF347_ENST00000334197.7_Missense_Mutation_p.H451N|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	46	74	0	113	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCTCCGGTGTGAATTACCAGA	0.438000													1	1	1	1	1	1	1.000000	50	80	0	122	0	0	0	0	0	122	5
VN1R2	317701	broad.mit.edu	37	19	53762110	53762110	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53762110G>A	ENST00000341702.3	+	1	566	c.482G>A	c.(481-483)gGa>gAa	p.G161E		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	18	33	0	38	161					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.G161E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AATTATTTTGGATGCAAATTT	0.458000													1	1	1	1	1	1	0.999998	19	35	0	40	0	0	0	0	0	40	5
VN1R2	317701	broad.mit.edu	37	19	53762646	53762646	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53762646C>A	ENST00000341702.3	+	1	1102	c.1018C>A	c.(1018-1020)Ctc>Atc	p.L340I	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	51	98	0	142	340					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTATTTAGCTCTCTTCGATAA	0.463000													1	1	1	1	1	1	1.000000	54	106	0	148	0	0	0	0	0	148	5
VN1R4	317703	broad.mit.edu	37	19	53770013	53770013	+	Nonstop_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53770013T>C	ENST00000311170.4	-	1	959	c.906A>G	c.(904-906)tgA>tgG	p.*302W		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	21	37	0	56	0					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GGAGATCTTGTCATCTTTTCC	0.388000										HNSCC(26;0.072)			1	1	1	1	1	1	1.000000	23	43	0	57	0	0	0	0	0	57	5
VN1R4	317703	broad.mit.edu	37	19	53770552	53770552	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53770552C>A	ENST00000311170.4	-	1	420	c.367G>T	c.(367-369)Gcc>Tcc	p.A123S		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	11	51	0	71	123					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TGCTTGGGGGCTTTCTCTTTA	0.507000										HNSCC(26;0.072)			1	0	1	1	1	1	0.999425	12	53	0	59	0	0	0	0	0	59	4
ZNF845	91664	broad.mit.edu	37	19	53848860	53848860	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53848860G>T	ENST00000458035.1	+	3	234	c.117G>T	c.(115-117)gaG>gaT	p.E39D	ZNF845_ENST00000595091.1_Missense_Mutation_p.E39D	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	54	113	0	158	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TGATGCTGGAGAATTATAGGA	0.463000													1	0	1	1	0	1	1.000000	55	119	0	142	0	0	0	0	0	142	3
ZNF765	91661	broad.mit.edu	37	19	53911394	53911394	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53911394T>G	ENST00000396408.3	+	4	703	c.586T>G	c.(586-588)Ttc>Gtc	p.F196V	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	9	71	0	47	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TGGGAATAATTTCCTGAATTC	0.373000													1	1	1	1	1	1	0.995086	9	74	0	48	0	7.460258e-02	0	4	0	48	5
ZNF813	126017	broad.mit.edu	37	19	53989942	53989942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:53989942C>A	ENST00000396403.4	+	3	200	c.72C>A	c.(70-72)tgC>tgA	p.C24*	ZNF813_ENST00000396421.4_Nonsense_Mutation_p.C24*	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	32	109	0	193	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGTGGAAATGCCTGGACCCTG	0.473000													0	0	1	1	0	1	1.000000	29	101	0	115	0	0	0	0	0	115	2
ZNF331	55422	broad.mit.edu	37	19	54080743	54080743	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54080743G>A	ENST00000253144.9	+	7	2262	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	ZNF331_ENST00000512387.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000449416.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000513999.1_Missense_Mutation_p.R310Q|ZNF331_ENST00000411977.2_Missense_Mutation_p.R310Q|ZNF331_ENST00000511593.2_Missense_Mutation_p.R310Q|ZNF331_ENST00000511154.1_Missense_Mutation_p.R310Q	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	22	42	0	54	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GCCTTTACTCGAGTCAATTAC	0.473000			T	?	follicular thyroid adenoma								1	1	1	1	1	1	1.000000	22	44	0	57	0	4.159072e-01	1	3	0	57	5
NLRP12	91662	broad.mit.edu	37	19	54327368	54327368	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54327368C>T	ENST00000324134.6	-	1	229	c.61G>A	c.(61-63)Gag>Aag	p.E21K	NLRP12_ENST00000354278.3_Missense_Mutation_p.E21K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E21K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E21K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E21K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E21K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E21K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E21K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	31	40	0	69	21	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			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCCACAGCCTCGAGTTCTTCC	0.612000													1	1	1	1	1	1	1.000000	33	44	0	77	0	0	0	0	0	77	5
CACNG7	59284	broad.mit.edu	37	19	54418757	54418757	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:54418757C>T	ENST00000391767.1	+	4	634	c.422C>T	c.(421-423)tCg>tTg	p.S141L	CACNG7_ENST00000391766.1_Missense_Mutation_p.S141L|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000222212.2_Missense_Mutation_p.S141L			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	16	25	0	40	141					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			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	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)		TTCATACTATCGGGTGAGCCT	0.562000													1	1	1	1	1	1	1.000000	20	25	0	42	0	0	0	0	0	42	5
LILRB1	0	broad.mit.edu	37	19	55144057	55144057	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55144057C>T	ENST00000396331.1	+	7	1161	c.804C>T	c.(802-804)ctC>ctT	p.L268L	LILRB1_ENST00000427581.2_Silent_p.L304L|LILRB1_ENST00000418536.2_Silent_p.L268L|LILRB1_ENST00000396317.1_Silent_p.L268L|LILRB1_ENST00000396315.1_Silent_p.L268L|LILRB1_ENST00000396327.3_Silent_p.L268L|LILRB1_ENST00000324602.7_Silent_p.L268L|LILRB1_ENST00000448689.1_Silent_p.L268L|LILRB1_ENST00000396321.2_Silent_p.L268L|LILRB1_ENST00000434867.2_Silent_p.L268L|LILRB1_ENST00000396332.4_Silent_p.L268L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	36	77	0	119	268	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCCTTCAGCTCGCTGGCGCAC	0.612000										HNSCC(37;0.09)			1	1	1	1	1	1	1.000000	38	84	0	124	0	2.364363e-01	0	3	0	124	5
NLRP7	199713	broad.mit.edu	37	19	55449593	55449593	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55449593T>G	ENST00000588756.1	-	7	2434	c.1948A>C	c.(1948-1950)Att>Ctt	p.I650L	NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000340844.2_Missense_Mutation_p.I650L|NLRP7_ENST00000592784.1_Missense_Mutation_p.I650L|NLRP7_ENST00000590030.1_Missense_Mutation_p.I650L|NLRP7_ENST00000446217.1_Missense_Mutation_p.I678L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	30	60	0	112	650							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAGTTCGGAATGGTTAGGTAA	0.488000													1	1	1	1	1	1	1.000000	31	61	0	123	0	0	0	1	0	123	5
NLRP7	199713	broad.mit.edu	37	19	55450260	55450260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55450260C>A	ENST00000588756.1	-	6	2413	c.1927G>T	c.(1927-1929)Gaa>Taa	p.E643*	NLRP7_ENST00000448121.2_Nonsense_Mutation_p.E643*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.E643*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.E643*|NLRP7_ENST00000592784.1_Nonsense_Mutation_p.E643*|NLRP7_ENST00000590030.1_Nonsense_Mutation_p.E643*|NLRP7_ENST00000446217.1_Nonsense_Mutation_p.E671*			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	30	77	0	116	643							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCTTACCTTTCAAATTCAATG	0.483000													1	1	1	1	1	1	1.000000	33	84	0	129	0	0	0	1	0	129	5
NLRP7	199713	broad.mit.edu	37	19	55451265	55451265	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55451265C>T	ENST00000588756.1	-	6	1408	c.922G>A	c.(922-924)Gac>Aac	p.D308N	NLRP7_ENST00000448121.2_Missense_Mutation_p.D308N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D308N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D308N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D308N|NLRP7_ENST00000590030.1_Missense_Mutation_p.D308N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D336N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	17	27	0	51	308	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGCTGGAGGTCCCTCAGTGCC	0.617000													1	1	1	1	1	1	0.999992	17	30	0	54	0	0	0	0	0	54	5
TNNT1	7138	broad.mit.edu	37	19	55649407	55649407	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55649407C>A	ENST00000588981.1	-	10	627	c.423G>T	c.(421-423)aaG>aaT	p.K141N	TNNT1_ENST00000536926.1_Missense_Mutation_p.K130N|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000585321.2_Missense_Mutation_p.K71N|TNNT1_ENST00000356783.5_Missense_Mutation_p.K130N|TNNT1_ENST00000588426.1_Missense_Mutation_p.K38N|TNNT1_ENST00000587758.1_Missense_Mutation_p.K130N|TNNT1_ENST00000587465.2_Missense_Mutation_p.K71N|TNNT1_ENST00000291901.8_Missense_Mutation_p.K141N	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	13	98	0	98	141					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CTGCCCGCTTCTTGGCCTCTT	0.572000													1	1	1	1	1	1	0.999907	15	109	0	107	1	1	63	429	0	107	5
TNNI3	7137	broad.mit.edu	37	19	55665401	55665401	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:55665401C>A	ENST00000344887.5	-	7	688	c.546G>T	c.(544-546)gaG>gaT	p.E182D	TNNI3_ENST00000588882.1_Missense_Mutation_p.E157D	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	37	66	0	93	182					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			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACTCACCTTCTCGGTGTCCT	0.622000													1	1	1	1	1	1	1.000000	40	77	0	107	1	1	32	36	0	107	5
NLRP9	338321	broad.mit.edu	37	19	56243645	56243645	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56243645C>A	ENST00000332836.2	-	2	1579	c.1552G>T	c.(1552-1554)Gac>Tac	p.D518Y		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	41	63	0	63	518						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGCTTTAGGTCTTTTGACAGT	0.418000													1	1	1	1	1	1	1.000000	42	67	0	67	0	0	0	0	0	67	5
NLRP11	204801	broad.mit.edu	37	19	56329275	56329275	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56329275C>T	ENST00000443188.1	-	4	976	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Missense_Mutation_p.R89Q|NLRP11_ENST00000360133.3_Missense_Mutation_p.R89Q|NLRP11_ENST00000589093.1_Missense_Mutation_p.R89Q	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	27	39	0	65	89	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTCACGGTTTCGTCTGCCAAT	0.418000													1	1	1	1	0	1	1.000000	30	41	0	81	0	0	0	0	0	81	4
NLRP5	126206	broad.mit.edu	37	19	56538862	56538862	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56538862C>T	ENST00000390649.3	+	7	1263	c.1263C>T	c.(1261-1263)gtC>gtT	p.V421V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	17	22	0	38	421	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGTCAGAGGTCGTGTCTCCCC	0.547000													1	1	1	1	0	1	0.999995	17	23	0	42	0	0	0	0	0	42	4
ZSCAN5A	79149	broad.mit.edu	37	19	56736267	56736267	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56736267A>C	ENST00000587340.1	-	4	844	c.149T>G	c.(148-150)tTc>tGc	p.F50C	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.F50C|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.F50C			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	27	50	0	87	50	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CGGGCAGCTGAACATCCTGAA	0.557000													1	1	1	1	1	1	1.000000	27	55	0	82	1	6.412920e-01	2	4	0	82	5
ZNF583	147949	broad.mit.edu	37	19	56935607	56935607	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56935607A>C	ENST00000333201.9	+	5	1790	c.1580A>C	c.(1579-1581)aAa>aCa	p.K527T	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.K527T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	25	56	0	57	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GATTGCAGGAAATCTTTCAGG	0.408000													1	1	1	1	1	1	1.000000	27	58	0	58	0	0	0	0	0	58	5
ZNF583	147949	broad.mit.edu	37	19	56935644	56935644	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56935644G>A	ENST00000333201.9	+	5	1827	c.1617G>A	c.(1615-1617)gaG>gaA	p.E539E	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Silent_p.E539E	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	13	42	0	46	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTCATCATGAGAGAATTCATa	0.418000													1	1	1	1	1	1	0.999746	13	44	0	47	0	0	0	0	0	47	5
ZNF667	63934	broad.mit.edu	37	19	56953524	56953524	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:56953524T>C	ENST00000504904.3	-	7	1559	c.840A>G	c.(838-840)acA>acG	p.T280T	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.T408T|ZNF667_ENST00000292069.6_Silent_p.T280T			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	14	49	0	58	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TATATTTATGTGTTTTCTTTC	0.363000													1	1	1	1	1	1	0.999869	14	50	0	59	0	0	0	0	0	59	5
ZNF471	57573	broad.mit.edu	37	19	57036962	57036962	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57036962A>G	ENST00000308031.5	+	5	1659	c.1526A>G	c.(1525-1527)cAt>cGt	p.H509R	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	25	42	0	53	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CAGAGAATTCATACTGGAGAG	0.378000													1	1	1	1	1	1	1.000000	26	44	0	56	0	0	0	1	0	56	5
ZNF470	388566	broad.mit.edu	37	19	57088168	57088168	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57088168G>T	ENST00000330619.8	+	6	1057	c.371G>T	c.(370-372)aGa>aTa	p.R124I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R124I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	10	34	0	58	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAATGGAAAGACTTAAAAGC	0.363000													1	1	1	1	1	1	0.997974	10	35	0	61	0	0	0	1	0	61	5
PEG3	5178	broad.mit.edu	37	19	57326134	57326134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57326134G>A	ENST00000326441.9	-	10	4039	c.3676C>T	c.(3676-3678)Cga>Tga	p.R1226*	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Nonsense_Mutation_p.R1100*|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Nonsense_Mutation_p.R1102*|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Nonsense_Mutation_p.R1226*	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	30	48	0	86	1226					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1226>?(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAAAGGCATCGAATGGCCGAC	0.502000													1	1	1	1	1	1	1.000000	32	54	0	95	0	0	0	0	0	95	5
PEG3	5178	broad.mit.edu	37	19	57327758	57327758	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57327758G>A	ENST00000326441.9	-	10	2415	c.2052C>T	c.(2050-2052)ctC>ctT	p.L684L	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.L558L|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.L560L|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Silent_p.L684L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	16	62	0	95	684					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAAAGTCACAGAGCTTCTCCT	0.448000													1	1	1	1	1	1	0.999983	17	65	0	101	0	0	0	0	0	101	5
PEG3	5178	broad.mit.edu	37	19	57335881	57335881	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57335881C>A	ENST00000326441.9	-	4	506	c.143G>T	c.(142-144)aGg>aTg	p.R48M	PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000391708.3_De_novo_Start_InFrame|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_De_novo_Start_InFrame|PEG3_ENST00000423103.2_Missense_Mutation_p.R48M	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	24	32	0	70	48	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTTCCGAAACCTCTGATGAAA	0.507000													1	1	1	1	1	1	1.000000	25	33	0	71	0	0	0	0	0	71	5
USP29	0	broad.mit.edu	37	19	57640183	57640183	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57640183T>G	ENST00000254181.4	+	4	594	c.140T>G	c.(139-141)tTt>tGt	p.F47C	USP29_ENST00000598197.1_Missense_Mutation_p.F47C	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	9	25	0	32	47					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		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)		TCTGGAAAATTTATAAGAATT	0.363000													1	1	1	1	1	1	0.998130	10	29	0	36	0	0	0	0	0	36	5
USP29	0	broad.mit.edu	37	19	57640189	57640189	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57640189G>T	ENST00000254181.4	+	4	600	c.146G>T	c.(145-147)aGa>aTa	p.R49I	USP29_ENST00000598197.1_Missense_Mutation_p.R49I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	13	17	0	31	49					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		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)		AAATTTATAAGAATTTTTCAG	0.353000													1	1	1	1	1	1	0.999973	15	21	0	34	0	0	0	0	0	34	5
USP29	0	broad.mit.edu	37	19	57642424	57642424	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57642424A>G	ENST00000254181.4	+	4	2835	c.2381A>G	c.(2380-2382)aAc>aGc	p.N794S	USP29_ENST00000598197.1_Missense_Mutation_p.N794S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	5	37	0	29	794					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		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)		AACCCAGGAAACAAAAACATT	0.458000													1	1	1	1	1	1	0.968768	6	37	0	31	0	0	0	0	0	31	5
ZIM3	0	broad.mit.edu	37	19	57646993	57646993	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57646993G>T	ENST00000269834.1	-	5	1097	c.712C>A	c.(712-714)Ctc>Atc	p.L238I		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	28	51	0	86	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		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)		TGTTGAAAGAGATTTGACTTC	0.403000													1	1	1	1	1	1	1.000000	29	53	0	86	0	0	0	0	0	86	5
ZIM3	0	broad.mit.edu	37	19	57647266	57647266	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57647266C>T	ENST00000269834.1	-	5	824	c.439G>A	c.(439-441)Gat>Aat	p.D147N		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	41	87	0	101	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		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)		CCATTATCATCGTGAGAATTA	0.353000													1	1	1	1	1	1	1.000000	42	93	0	105	0	0	0	0	0	105	5
ZNF460	10794	broad.mit.edu	37	19	57802428	57802428	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57802428C>T	ENST00000360338.3	+	3	841	c.519C>T	c.(517-519)ttC>ttT	p.F173F	ZNF460_ENST00000537645.1_Silent_p.F132F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	32	64	0	100	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		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)		CCTATAAATTCGAGGAAATGT	0.428000													1	1	1	1	1	1	1.000000	33	65	0	103	0	0	0	0	0	103	5
ZNF543	125919	broad.mit.edu	37	19	57839976	57839976	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57839976C>A	ENST00000321545.4	+	4	1491	c.1146C>A	c.(1144-1146)ctC>ctA	p.L382L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	26	56	0	51	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		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)		GTGCAGACCTCATTCAACACT	0.507000													1	1	1	1	1	1	1.000000	27	59	0	51	1	5.058042e-01	2	3	0	51	5
TRAPPC2P1	0	broad.mit.edu	37	19	57876402	57876402	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57876402C>A	ENST00000596755.1	+	1	1468	c.201C>A	c.(199-201)ttC>ttA	p.F67L	ZNF547_ENST00000282282.3_Intron|AC003002.4_ENST00000597658.1_Intron|TRAPPC2P1_ENST00000543226.1_Missense_Mutation_p.F67L						7	17	0	18											kidney(1)|lung(2)	3						TGGACAAGTTCAACGAGTGGT	0.428000													1	0	0	1	1	1	0.986135	7	18	0	21	1	9.950119e-01	13	19	0	21	3
VN1R1	57191	broad.mit.edu	37	19	57967372	57967372	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:57967372C>A	ENST00000321039.3	-	1	482	c.483G>T	c.(481-483)aaG>aaT	p.K161N	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	7	72	0	74	161					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GGGATCTAATCTTGATCTCCA	0.483000													1	1	1	1	0	1	0.982170	7	76	0	77	0	0	0	1	0	77	4
ZNF549	256051	broad.mit.edu	37	19	58049412	58049412	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58049412T>G	ENST00000376233.3	+	4	1221	c.1040T>G	c.(1039-1041)tTt>tGt	p.F347C	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.F334C|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	29	50	0	60	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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)		AAACAAACATTTGTTGGCCAT	0.438000													1	1	1	1	1	1	1.000000	30	55	0	63	0	0	0	1	0	63	5
ZNF549	256051	broad.mit.edu	37	19	58049766	58049766	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58049766G>T	ENST00000376233.3	+	4	1575	c.1394G>T	c.(1393-1395)aGa>aTa	p.R465I	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R452I|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	21	39	0	58	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		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)		CGACACCAGAGAATTCACACT	0.428000													1	1	1	1	1	1	1.000000	22	42	0	65	0	0	0	1	0	65	5
ZNF416	55659	broad.mit.edu	37	19	58084262	58084262	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58084262T>G	ENST00000196489.3	-	4	1232	c.1010A>C	c.(1009-1011)cAa>cCa	p.Q337P		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	28	60	0	58	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		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;0.0259)		GTTGGAACTTTGGCTAAAAGA	0.428000													1	1	1	1	1	1	1.000000	29	62	0	58	0	6.207716e-01	1	5	0	58	5
ZIK1	284307	broad.mit.edu	37	19	58101659	58101659	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58101659C>A	ENST00000597850.1	+	4	695	c.480C>A	c.(478-480)ttC>ttA	p.F160L	ZIK1_ENST00000536878.2_Missense_Mutation_p.F147L|ZIK1_ENST00000599456.1_Missense_Mutation_p.F105L|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	22	41	0	65	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		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)		GCTGCCTATTCTGTATGTCAT	0.493000													1	1	1	1	1	1	1.000000	24	41	0	70	0	0	0	0	0	70	5
ZNF530	348327	broad.mit.edu	37	19	58118092	58118092	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58118092T>G	ENST00000332854.6	+	3	1419	c.1199T>G	c.(1198-1200)tTt>tGt	p.F400C	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	56	69	0	78	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		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)		CACCAAAGATTTCACACTGGA	0.423000													1	1	1	1	1	1	1.000000	59	71	0	81	1	2.084757e-01	2	0	0	81	5
ZNF551	90233	broad.mit.edu	37	19	58199270	58199270	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58199270C>T	ENST00000282296.5	+	3	1812	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R527C	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	23	60	0	72	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		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)		TTTTAGACAGCGCTCTGGCCT	0.443000													1	1	1	1	1	1	1.000000	25	63	0	80	1	5.502229e-01	2	4	0	80	5
ZNF814	730051	broad.mit.edu	37	19	58388316	58388316	+	Missense_Mutation	SNP	G	G	A	rs145957248	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58388316G>A	ENST00000435989.2	-	2	365	c.131C>T	c.(130-132)aCg>aTg	p.T44M	ZNF814_ENST00000597342.1_Missense_Mutation_p.T73M|ZNF814_ENST00000596604.1_Missense_Mutation_p.T44M|ZNF814_ENST00000600634.1_Missense_Mutation_p.T44M|CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597807.1_Missense_Mutation_p.T44M|ZNF814_ENST00000597832.1_Missense_Mutation_p.T44M	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	32	65	0	98	44	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						GTTCTCCAGCGTCACATCACG	0.498000													1	0	1	1	1	1	1.000000	33	70	0	101	1	7.787332e-01	4	4	0	101	4
ZNF418	147686	broad.mit.edu	37	19	58441904	58441904	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58441904C>A	ENST00000396147.1	-	3	316	c.25G>T	c.(25-27)Gat>Tat	p.D9Y	ZNF418_ENST00000595830.1_Missense_Mutation_p.D9Y|ZNF418_ENST00000600989.1_Missense_Mutation_p.D9Y|ZNF418_ENST00000599852.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.D30Y	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	34	82	0	99	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		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)		ACAGCCACATCTTCAAATGCC	0.512000													1	0	1	1	1	1	1.000000	38	84	1	112	0	0	0	0	1	112	4
ZNF256	10172	broad.mit.edu	37	19	58452990	58452990	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58452990T>C	ENST00000282308.3	-	3	1382	c.1186A>G	c.(1186-1188)Aaa>Gaa	p.K396E	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	30	41	0	69	396					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		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)		CTCCGGTGTTTAATGAGGTGA	0.428000													1	1	1	1	1	1	1.000000	30	42	0	73	0	0	1	0	0	73	5
C19orf18	147685	broad.mit.edu	37	19	58472793	58472793	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58472793C>T	ENST00000314391.3	-	5	599	c.498G>A	c.(496-498)gaG>gaA	p.E166E		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	19	41	0	56	166						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		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)		CATTTTCGTTCTCTGGAAGTA	0.488000													1	1	1	1	1	1	1.000000	21	45	0	60	0	0	0	1	0	60	5
ZNF135	7694	broad.mit.edu	37	19	58578538	58578538	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58578538T>G	ENST00000506786.1	+	5	1114	c.560T>G	c.(559-561)cTt>cGt	p.L187R	ZNF135_ENST00000401053.4_Missense_Mutation_p.L253R|ZNF135_ENST00000439855.2_Missense_Mutation_p.L229R|ZNF135_ENST00000359978.6_Missense_Mutation_p.L241R|ZNF135_ENST00000511556.1_Missense_Mutation_p.L241R|ZNF135_ENST00000313434.5_Missense_Mutation_p.L229R			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	69	130	0	188	241					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGCTCAGCACTTATCGAACAC	0.473000													1	1	1	1	1	1	1.000000	70	144	0	198	0	1.090630e-01	0	2	0	198	5
ZNF544	27300	broad.mit.edu	37	19	58773431	58773431	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:58773431A>G	ENST00000269829.4	+	7	1933	c.1459A>G	c.(1459-1461)Act>Gct	p.T487A	ZNF544_ENST00000415203.2_Missense_Mutation_p.T459A|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600220.1_Missense_Mutation_p.T459A|ZNF544_ENST00000596652.1_Missense_Mutation_p.T487A|ZNF544_ENST00000600044.1_Missense_Mutation_p.T459A|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Missense_Mutation_p.T345A|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	27	73	0	82	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		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)		AAGAACGCACACTGGAGAAAA	0.433000													1	1	1	1	1	1	1.000000	28	75	0	84	1	9.997008e-01	11	11	0	84	5
UBE2M	9040	broad.mit.edu	37	19	59067707	59067707	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr19:59067707A>C	ENST00000253023.3	-	5	965	c.387T>G	c.(385-387)atT>atG	p.I129M		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	28	63	0	110	129					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		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)		GCAGGCCATAAATTATGGAGT	0.547000													1	1	1	1	1	1	1.000000	33	68	0	132	1	1	123	197	0	132	5
DEFB126	81623	broad.mit.edu	37	20	126299	126299	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:126299C>T	ENST00000382398.3	+	2	562	c.302C>T	c.(301-303)tCg>tTg	p.S101L	DEFB126_ENST00000542572.1_3'UTR	NM_030931.2	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	48	73	0	116	101					defense response to bacterium	extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		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)			TCGATGTCTTCGATGGCTCCT	0.453000													1	1	1	1	1	1	1.000000	54	78	0	127	0	0	0	0	0	127	5
SNPH	9751	broad.mit.edu	37	20	1285531	1285531	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:1285531G>A	ENST00000381867.1	+	7	1092	c.450G>A	c.(448-450)gaG>gaA	p.E150E	SNPH_ENST00000381873.3_Silent_p.E106E			O15079	SNPH_HUMAN	syntaphilin	29	72	0	121	106					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGGACACAGAGATTGATGACC	0.627000													1	1	1	1	1	1	1.000000	32	76	0	137	0	9.025097e-02	0	2	0	137	5
SIRPB2	284759	broad.mit.edu	37	20	1460374	1460374	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:1460374G>A	ENST00000359801.3	-	2	458	c.422C>T	c.(421-423)tCg>tTg	p.S141L	SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.S3L|SIRPB2_ENST00000444444.1_Intron	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	55	119	1	172	141	Ig-like V-type 1.					integral to membrane		p.S240L(1)|p.S141L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTTCATCCGATTTCATTTC	0.478000													1	0	1	1	1	1	1.000000	56	130	1	179	0	0	0	0	1	179	4
SIRPG	55423	broad.mit.edu	37	20	1617063	1617063	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:1617063G>T	ENST00000381580.1	-	3	599	c.420C>A	c.(418-420)ttC>ttA	p.F140L	RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Missense_Mutation_p.F173L|SIRPG_ENST00000216927.4_Missense_Mutation_p.F173L|SIRPG_ENST00000381583.2_Missense_Mutation_p.F173L|SIRPG_ENST00000344103.4_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	37	50	1	95	173					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	p.F173L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTCTGGGAGAGAAGCCATGGG	0.557000													1	0	1	1	1	1	1.000000	38	52	1	100	0	0	0	0	1	100	4
TMC2	117532	broad.mit.edu	37	20	2597824	2597824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2597824G>T	ENST00000358864.1	+	16	2062	c.2047G>T	c.(2047-2049)Gaa>Taa	p.E683*	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	9	92	0	111	683						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CGTACCCCATGAACGCGTGTT	0.582000													1	1	1	1	0	1	0.997313	10	102	0	126	0	0	0	0	0	126	4
NOP56	10528	broad.mit.edu	37	20	2638687	2638687	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2638687C>A	ENST00000329276.5	+	12	2048	c.1532C>A	c.(1531-1533)tCt>tAt	p.S511Y	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	28	51	0	79	511	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAAAAGAAATCTTTTTCCAAG	0.448000													1	1	1	1	1	1	1.000000	31	52	0	75	0	0	0	0	0	75	5
IDH3B	3420	broad.mit.edu	37	20	2641599	2641599	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2641599C>T	ENST00000380843.4	-	5	384	c.354G>A	c.(352-354)ccG>ccA	p.P118P	IDH3B_ENST00000380851.5_Silent_p.P118P|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	24	35	0	59	118					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	p.P118P(1)		breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	TATACTCCATCGGGGTATGAA	0.547000													1	1	1	1	1	1	1.000000	30	38	0	61	1	1	86	77	0	61	5
VPS16	64601	broad.mit.edu	37	20	2841107	2841107	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2841107A>T	ENST00000380445.3	+	5	454	c.382A>T	c.(382-384)Aac>Tac	p.N128Y	VPS16_ENST00000380469.3_Missense_Mutation_p.N128Y	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	30	49	0	85	128					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGTGCTCCAGAACCGGGTTCT	0.602000													1	1	1	1	1	1	1.000000	32	51	0	94	1	9.987145e-01	13	8	0	94	5
VPS16	64601	broad.mit.edu	37	20	2843543	2843543	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:2843543C>T	ENST00000380445.3	+	13	1366	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W	VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380443.3_Missense_Mutation_p.R118W|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	72	105	0	156	432					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CAATGCTGTTCGGGACTATCA	0.587000													1	1	1	1	1	1	1.000000	83	110	0	164	1	1	28	29	0	164	5
FASTKD5	60493	broad.mit.edu	37	20	3127883	3127883	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:3127883T>G	ENST00000380266.3	-	2	2155	c.1834A>C	c.(1834-1836)Aat>Cat	p.N612H	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	40	65	0	69	612					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						TTGGCTACATTTTCAGCCGGC	0.428000													1	1	1	1	1	1	1.000000	43	67	0	71	1	1	24	29	0	71	5
FASTKD5	60493	broad.mit.edu	37	20	3129698	3129698	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:3129698A>G	ENST00000380266.3	-	2	340	c.19T>C	c.(19-21)Tca>Cca	p.S7P	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	16	24	0	53	7					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AGTTTTAATGACTTGAGAGTA	0.453000													1	1	1	1	1	1	0.999986	16	25	0	59	1	9.977975e-01	11	9	0	59	5
SIGLEC1	6614	broad.mit.edu	37	20	3680010	3680010	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:3680010C>T	ENST00000344754.4	-	7	1624	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R542H	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	14	10	0	15	542	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCAGGAGAAGCGGGCATCAGG	0.672000													0	1	1	1	1	1	0.999972	14	11	0	16	0	0	0	0	0	16	4
PRNP	5621	broad.mit.edu	37	20	4680119	4680119	+	Missense_Mutation	SNP	C	C	A	rs144328292		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:4680119C>A	ENST00000379440.4	+	2	540	c.253C>A	c.(253-255)Cat>Aat	p.H85N	PRNP_ENST00000430350.2_Missense_Mutation_p.H85N	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	15	59	0	65	85	5 X 8 AA tandem repeats of P-H-G-G-G-W-G- Q.|Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	GGGACAGCCTCATGGTGGTGG	0.647000													1	1	1	1	1	1	0.999967	16	60	0	65	1	9.910635e-01	15	18	0	65	5
PRND	23627	broad.mit.edu	37	20	4705395	4705395	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:4705395C>T	ENST00000305817.2	+	2	269	c.198C>T	c.(196-198)ctC>ctT	p.L66L		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	25	45	0	69	66	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GCCGCAAGCTCGACATTGACT	0.602000													1	1	1	1	1	1	1.000000	25	49	0	69	0	0	0	0	0	69	5
RASSF2	9770	broad.mit.edu	37	20	4776603	4776603	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:4776603C>T	ENST00000379400.3	-	5	340	c.145G>A	c.(145-147)Gag>Aag	p.E49K	RASSF2_ENST00000379376.2_Missense_Mutation_p.E49K	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	6	49	0	73	49					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						ACAATGAACTCGTCTTCTTCC	0.552000													1	0	1	1	1	1	0.810584	7	54	1	83	0	8.653846e-02	1	3	1	83	4
GPCPD1	56261	broad.mit.edu	37	20	5560680	5560680	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:5560680C>A	ENST00000379019.4	-	7	659	c.447G>T	c.(445-447)aaG>aaT	p.K149N	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	13	21	0	26	149					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TTAATTTTTTCTTGGTTATTG	0.338000													1	1	1	1	1	1	0.999849	13	22	0	27	1	9.852035e-01	4	12	0	27	5
C20orf196	149840	broad.mit.edu	37	20	5843907	5843907	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:5843907A>G	ENST00000303142.6	+	3	503	c.416A>G	c.(415-417)aAg>aGg	p.K139R		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	22	35	0	64	139										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GAGAGCCAAAAGTATGCCCTC	0.537000													1	1	1	1	1	1	1.000000	22	39	0	64	1	5.936445e-01	2	3	0	64	5
CHGB	1114	broad.mit.edu	37	20	5904272	5904272	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:5904272A>C	ENST00000378961.4	+	4	1686	c.1482A>C	c.(1480-1482)gaA>gaC	p.E494D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	34	50	0	74	494						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACACTAAAGAAAACAGGGAGG	0.488000													1	1	1	1	1	1	1.000000	35	50	0	77	1	1.739812e-01	2	0	0	77	5
LRRN4	164312	broad.mit.edu	37	20	6022404	6022404	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:6022404G>A	ENST00000378858.4	-	5	1711	c.1487C>T	c.(1486-1488)tCg>tTg	p.S496L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	61	93	0	157	496						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						GGGCTGAGGCGAGCTTATGCT	0.637000													1	1	1	1	1	1	1.000000	68	97	0	164	1	9.966014e-01	6	10	0	164	5
FERMT1	55612	broad.mit.edu	37	20	6057898	6057898	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:6057898G>T	ENST00000217289.4	-	15	2744	c.1956C>A	c.(1954-1956)ttC>ttA	p.F652L	FERMT1_ENST00000536936.1_Missense_Mutation_p.F395L|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	21	47	1	73	652	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GGGTGGACAAGAAAATGTAGC	0.507000											OREG0025763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1	1	1	1	0.999590	22	50	1	76	1	8.875926e-01	10	6	1	76	4
FERMT1	55612	broad.mit.edu	37	20	6069709	6069709	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:6069709G>T	ENST00000217289.4	-	10	1955	c.1167C>A	c.(1165-1167)ttC>ttA	p.F389L	FERMT1_ENST00000536936.1_Missense_Mutation_p.F132L|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	5	48	0	33	389	FERM.|PH.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AATATTGTTTGAAAGCTTTTG	0.353000													1	0	1	1	1	1	0.967838	6	50	0	34	1	3.830290e-01	3	8	0	34	4
ISM1	140862	broad.mit.edu	37	20	13251302	13251302	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:13251302G>T	ENST00000262487.3	+	2	296	c.290G>T	c.(289-291)aGa>aTa	p.R97I	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	12	32	0	35	97						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TCATTGCAAAGAGATTTCCCC	0.498000													1	1	1	1	1	1	0.999525	12	36	0	41	0	7.945443e-01	0	10	0	41	5
ESF1	51575	broad.mit.edu	37	20	13755837	13755837	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:13755837A>C	ENST00000202816.1	-	4	1222	c.1115T>G	c.(1114-1116)tTt>tGt	p.F372C		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	35	61	0	78	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTGGGTTTAAATGAATTGAA	0.308000													1	1	1	1	1	1	1.000000	40	70	0	84	1	9.973902e-01	8	12	0	84	5
MACROD2	140733	broad.mit.edu	37	20	13982972	13982972	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:13982972G>T	ENST00000217246.4	+	2	480	c.85G>T	c.(85-87)Gaa>Taa	p.E29*	MACROD2_ENST00000310348.4_Nonsense_Mutation_p.E29*	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	10	48	0	47	29										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GAGACGCAAAGAATACCTAAG	0.358000													1	1	1	1	1	1	0.998843	11	52	0	50	0	3.636364e-02	0	2	0	50	5
KIF16B	55614	broad.mit.edu	37	20	16359822	16359822	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:16359822A>C	ENST00000354981.2	-	19	2982	c.2825T>G	c.(2824-2826)cTt>cGt	p.L942R	KIF16B_ENST00000408042.1_Missense_Mutation_p.L942R|KIF16B_ENST00000355755.3_Missense_Mutation_p.L942R|KIF16B_ENST00000378003.2_Missense_Mutation_p.L168R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	39	81	0	80	942	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			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TACTTGATAAAGAGTGTTGTC	0.438000													1	1	1	1	1	1	1.000000	40	92	0	83	1	9.871110e-01	7	12	0	83	5
RRBP1	6238	broad.mit.edu	37	20	17640992	17640992	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:17640992T>C	ENST00000377813.1	-	3	464	c.161A>G	c.(160-162)cAc>cGc	p.H54R	RRBP1_ENST00000377807.2_Missense_Mutation_p.H54R|RRBP1_ENST00000360807.4_Missense_Mutation_p.H54R|RRBP1_ENST00000246043.4_Missense_Mutation_p.H54R|RRBP1_ENST00000455029.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	3	22	0	33	54					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GACTTTCTGGTGGTGAGTTTT	0.448000													0	0	1	0	1	1	0.812861	3	23	0	33	1	9.993369e-01	45	160	0	33	2
ZNF133	7692	broad.mit.edu	37	20	18296758	18296758	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:18296758G>T	ENST00000377671.3	+	7	1819	c.1260G>T	c.(1258-1260)caG>caT	p.Q420H	ZNF133_ENST00000396026.3_Missense_Mutation_p.Q424H|ZNF133_ENST00000538547.1_Missense_Mutation_p.Q326H|ZNF133_ENST00000401790.1_Missense_Mutation_p.Q421H|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000316358.4_Missense_Mutation_p.Q421H|ZNF133_ENST00000535822.1_Missense_Mutation_p.Q326H|ZNF133_ENST00000402618.2_Missense_Mutation_p.Q358H	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	42	81	0	105	421						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GCTTCAGCCAGAATTCAACCC	0.562000													1	1	1	1	1	1	1.000000	45	85	0	115	1	9.999928e-01	17	23	0	115	5
C20orf26	26074	broad.mit.edu	37	20	20177339	20177339	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:20177339G>A	ENST00000245957.5	+	16	1792	c.1716G>A	c.(1714-1716)aaG>aaA	p.K572K	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	26	44	0	56	572										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTACACCAAGTTCTTTCTGA	0.458000													1	1	1	1	1	1	1.000000	28	45	0	61	1	1.526316e-01	2	0	0	61	5
CST8	10047	broad.mit.edu	37	20	23472478	23472478	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:23472478A>C	ENST00000246012.1	+	2	531	c.174A>C	c.(172-174)aaA>aaC	p.K58N		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	49	95	0	152	58						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					AATACAACAAAGAGAGCGAGG	0.463000													1	1	1	1	1	1	1.000000	53	101	0	168	0	0	0	0	0	168	5
GGTLC1	92086	broad.mit.edu	37	20	23967198	23967198	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:23967198G>A	ENST00000335694.4	-	2	255	c.51C>T	c.(49-51)gaC>gaT	p.D17D	GGTLC1_ENST00000286890.4_Silent_p.D17D|GGTLC1_ENST00000278765.4_Silent_p.D17D	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	24	67	0	104	17							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GGTGAGTGGTGTCGTCAGAGA	0.632000													1	1	1	1	1	1	1.000000	28	75	0	120	0	0	0	0	0	120	5
ZNF337	26152	broad.mit.edu	37	20	25656309	25656309	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:25656309A>G	ENST00000376436.1	-	4	2154	c.1615T>C	c.(1615-1617)Tca>Cca	p.S539P	ZNF337_ENST00000252979.5_Missense_Mutation_p.S539P|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.S507P					zinc finger protein 337	27	58	0	87											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCTCTCCTGAGTGTGTCCTC	0.483000													1	1	1	1	1	1	1.000000	30	60	0	91	1	7.335434e-01	3	2	0	91	5
ZNF337	26152	broad.mit.edu	37	20	25656432	25656432	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:25656432G>A	ENST00000376436.1	-	4	2031	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W	ZNF337_ENST00000252979.5_Missense_Mutation_p.R498W|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Missense_Mutation_p.R466W					zinc finger protein 337	46	77	0	115									p.R498W(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACTTATCCCGAAACCTTCGC	0.498000													1	0	1	1	1	1	1.000000	48	81	0	127	1	9.999577e-01	11	17	0	127	4
FRG1B	0	broad.mit.edu	37	20	29631559	29631559	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:29631559G>T	ENST00000278882.3	+	7	735	c.355G>T	c.(355-357)Gaa>Taa	p.E119*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E119*						11	28	0	44											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGCTGAAAAAGAAACCAAGAA	0.333000													1	0	1	1	1	1	0.999575	12	30	0	47	0	9.500991e-01	0	16	0	47	4
DEFB118	117285	broad.mit.edu	37	20	29960797	29960797	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:29960797C>A	ENST00000253381.2	+	2	229	c.196C>A	c.(196-198)Cct>Act	p.P66T		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	38	79	0	92	66					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAGGCGAGTTCCTGCGACATC	0.438000													1	1	1	1	1	1	1.000000	40	86	0	103	0	0	0	0	0	103	5
HCK	3055	broad.mit.edu	37	20	30689247	30689247	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:30689247G>A	ENST00000534862.1	+	14	1809	c.1446G>A	c.(1444-1446)ccG>ccA	p.P482P	HCK_ENST00000538448.1_Silent_p.P481P|HCK_ENST00000518730.1_Silent_p.P480P|HCK_ENST00000520553.1_Silent_p.P481P|HCK_ENST00000375852.2_Silent_p.P502P|HCK_ENST00000375862.2_Silent_p.P501P	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	6	18	0	25	502	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			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGGAGCGGCCGACCTTCGAAT	0.592000													1	0	1	1	1	1	0.971191	6	21	0	26	0	8.332235e-01	0	14	0	26	4
POFUT1	23509	broad.mit.edu	37	20	30797902	30797902	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:30797902C>A	ENST00000375749.3	+	2	215	c.153C>A	c.(151-153)ttC>ttA	p.F51L	POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000375730.3_Missense_Mutation_p.F51L|POFUT1_ENST00000486717.1_Intron	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	7	129	0	143	51					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCGATCACTTCTTGGGCTCTC	0.552000													1	0	1	1	0	1	0.981455	7	136	0	156	1	4.473396e-01	3	25	0	156	3
KIF3B	9371	broad.mit.edu	37	20	30898040	30898040	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:30898040G>T	ENST00000375712.3	+	2	627	c.460G>T	c.(460-462)Gat>Tat	p.D154Y		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	10	44	0	59	154	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			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAGATCCGAGATTTGCTCTC	0.458000													1	1	1	1	1	1	0.997722	10	49	0	59	1	9.242450e-01	4	21	0	59	5
MAPRE1	22919	broad.mit.edu	37	20	31424467	31424467	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31424467G>T	ENST00000375571.5	+	4	434	c.295G>T	c.(295-297)Gga>Tga	p.G99*		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	11	30	0	47	99	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						ATTAGTAAAAGGAAAGTTTCA	0.393000													1	1	1	1	1	1	0.999794	13	32	0	48	0	9.999951e-01	1	71	0	48	5
BPIFA3	128861	broad.mit.edu	37	20	31814249	31814249	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31814249C>A	ENST00000375454.3	+	5	784	c.574C>A	c.(574-576)Ctc>Atc	p.L192I	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.L156I	NM_178466.3	NP_848561.2	Q9BQP9	SPLC3_HUMAN	BPI fold containing family A, member 3	9	23	0	42	192						extracellular region	lipid binding										TCTCTACAACCTCAAAGAGAA	0.428000													1	1	1	1	1	1	0.996291	9	26	0	47	0	0	0	0	0	47	5
BPIFA1	51297	broad.mit.edu	37	20	31830330	31830330	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31830330C>A	ENST00000354297.4	+	8	839	c.768C>A	c.(766-768)gtC>gtA	p.V256V	BPIFA1_ENST00000375413.4_Silent_p.V256V|BPIFA1_ENST00000375422.2_Silent_p.V256V	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	13	31	0	28	256					innate immune response	extracellular region	lipid binding										TCATCAAGGTCTAAGCCTTCC	0.507000													1	1	1	1	1	1	0.999900	14	34	0	35	0	0	0	0	0	35	5
BPIFB1	92747	broad.mit.edu	37	20	31873907	31873907	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:31873907C>A	ENST00000253354.1	+	2	189	c.28C>A	c.(28-30)Ctc>Atc	p.L10I		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	29	54	0	100	10						extracellular space	lipid binding										CTTCACCCTTCTCTGTGGTTT	0.577000													1	1	1	1	1	1	1.000000	32	58	0	116	0	0	0	0	0	116	5
ITCH	83737	broad.mit.edu	37	20	33080315	33080315	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33080315G>T	ENST00000374864.4	+	23	2542	c.2329G>T	c.(2329-2331)Gaa>Taa	p.E777*	ITCH_ENST00000262650.6_Nonsense_Mutation_p.E818*|ITCH_ENST00000535650.1_Nonsense_Mutation_p.E667*	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	16	37	0	55	818	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			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GTTTGTTAAAGAAATTGATAA	0.318000													1	1	1	1	1	1	0.999995	18	40	0	58	0	9.884064e-01	1	19	0	58	5
ITCH	83737	broad.mit.edu	37	20	33092154	33092154	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33092154A>C	ENST00000374864.4	+	24	2648	c.2435A>C	c.(2434-2436)aAa>aCa	p.K812T	ITCH_ENST00000262650.6_Missense_Mutation_p.K853T|ITCH_ENST00000535650.1_Missense_Mutation_p.K702T	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	10	25	0	42	853	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			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GGACCACAGAAATTCTGCATT	0.378000													1	1	1	1	1	1	0.999129	11	28	0	54	1	9.954968e-01	16	13	0	54	5
DYNLRB1	83658	broad.mit.edu	37	20	33122566	33122566	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33122566C>T	ENST00000417166.2	+	3	247	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000357156.2_Missense_Mutation_p.R72C|DYNLRB1_ENST00000374846.3_Missense_Mutation_p.R124C			Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	31	48	0	67	72					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity	p.R72C(1)		endometrium(1)|large_intestine(1)|lung(1)	3						CCTTCGAATTCGCTCCAAGAA	0.527000													1	1	1	1	1	1	1.000000	31	51	0	71	1	1	177	258	0	71	5
EIF6	3692	broad.mit.edu	37	20	33867534	33867534	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:33867534C>T	ENST00000374450.3	-	6	827	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000374443.3_Missense_Mutation_p.R169Q|EIF6_ENST00000374436.3_Missense_Mutation_p.R188Q	NM_002212.3	NP_002203.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6	23	91	0	91	188					mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTCACTGCCTCGGTTCACAGT	0.577000													1	1	1	1	1	1	1.000000	26	100	0	102	1	1	161	653	0	102	5
CEP250	11190	broad.mit.edu	37	20	34091280	34091280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:34091280C>T	ENST00000397527.1	+	30	5803	c.5083C>T	c.(5083-5085)Cga>Tga	p.R1695*	CEP250_ENST00000342580.4_Nonsense_Mutation_p.R1639*	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	52	99	0	159	1695	Gln/Glu-rich.				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			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTGAGAGAGCGAGGCCGGGA	0.592000													1	1	1	1	1	1	1.000000	54	100	0	168	1	9.993840e-01	6	19	0	168	5
RBM12	10137	broad.mit.edu	37	20	34241692	34241692	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:34241692C>T	ENST00000374114.3	-	3	1816	c.1553G>A	c.(1552-1554)cGa>cAa	p.R518Q	CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.R518Q|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.R518Q	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	61	115	0	137	518						nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAGTCTTTTTCGAATCATATC	0.398000													1	1	1	1	1	1	1.000000	65	122	0	140	1	1	42	177	0	140	5
DSN1	79980	broad.mit.edu	37	20	35399573	35399573	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:35399573T>C	ENST00000426836.1	-	3	430	c.58A>G	c.(58-60)Act>Gct	p.T20A	DSN1_ENST00000373745.3_Missense_Mutation_p.T20A|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000373750.4_Missense_Mutation_p.T20A|DSN1_ENST00000448110.1_Missense_Mutation_p.T4A	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	47	93	0	138	20					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TGATCATGAGTCTTAGACATC	0.378000													1	1	1	1	1	1	1.000000	50	98	0	145	1	9.999936e-01	24	17	0	145	5
CTNNBL1	56259	broad.mit.edu	37	20	36488328	36488328	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:36488328G>A	ENST00000405275.2	+	15	1582	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	CTNNBL1_ENST00000373469.1_Missense_Mutation_p.D222N|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.D474N|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.D287N			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	14	21	0	40	474					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGATCATCGACAATGACAC	0.517000													1	1	1	1	1	1	0.999937	14	21	0	42	1	1	81	110	0	42	5
KIAA1755	85449	broad.mit.edu	37	20	36874470	36874470	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:36874470A>G	ENST00000279024.4	-	2	333	c.62T>C	c.(61-63)tTc>tCc	p.F21S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	18	29	0	49	21										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGTGGCCTCGAAAGGAGGATA	0.597000													1	1	1	1	1	1	0.999996	18	32	0	54	0	0	0	1	0	54	5
BPI	671	broad.mit.edu	37	20	36938940	36938940	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:36938940C>T	ENST00000262865.4	+	4	523	c.434C>T	c.(433-435)tCg>tTg	p.S145L	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	25	42	0	76	145					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			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ATGTCCATTTCGGCTGATCTG	0.507000													1	1	1	1	1	1	1.000000	27	45	0	80	0	0	0	0	0	80	5
SLC32A1	140679	broad.mit.edu	37	20	37356342	37356342	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37356342A>G	ENST00000217420.1	+	2	901	c.638A>G	c.(637-639)gAg>gGg	p.E213G		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	5	63	0	64	213					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CAGATCATCGAGCTGGTGATG	0.632000													1	0	1	1	0	1	0.939843	5	67	0	67	0	0	0	0	0	67	3
PPP1R16B	26051	broad.mit.edu	37	20	37547186	37547186	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37547186G>A	ENST00000299824.1	+	11	1770	c.1581G>A	c.(1579-1581)ccG>ccA	p.P527P	PPP1R16B_ENST00000373331.2_Silent_p.P485P	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	18	43	0	66	527					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GAACTTCACCGTACAGCAGCA	0.587000													1	1	1	1	1	1	0.999997	19	47	0	73	0	0	0	1	0	73	5
DHX35	60625	broad.mit.edu	37	20	37601234	37601234	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37601234T>C	ENST00000252011.3	+	3	240	c.207T>C	c.(205-207)aaT>aaC	p.N69N	DHX35_ENST00000373323.4_Intron|DHX35_ENST00000373325.2_Silent_p.N69N	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	9	19	0	36	69	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TGATAGAAAATTATCAGACAG	0.343000													1	0	1	1	1	1	0.999250	11	22	0	43	1	5.481948e-01	2	3	0	43	4
DHX35	60625	broad.mit.edu	37	20	37621001	37621001	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:37621001T>C	ENST00000252011.3	+	7	548	c.515T>C	c.(514-516)gTc>gCc	p.V172A	DHX35_ENST00000373323.4_Missense_Mutation_p.V141A|DHX35_ENST00000373325.2_Missense_Mutation_p.V172A	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	19	35	0	77	172	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				ATTCTTAGTGTCATCATGCTG	0.433000													1	1	1	1	1	1	1.000000	22	41	0	85	1	7.589326e-01	4	3	0	85	5
PLCG1	5335	broad.mit.edu	37	20	39800865	39800865	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:39800865G>A	ENST00000373272.2	+	25	3246	c.2841G>A	c.(2839-2841)aaG>aaA	p.K947K	PLCG1_ENST00000373271.1_Silent_p.K947K|PLCG1_ENST00000244007.3_Silent_p.K947K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	27	177	0	216	947					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			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AACGGAGGAAGAAGATTGCCC	0.592000													1	1	1	1	1	1	1.000000	29	191	0	251	1	9.990528e-01	5	69	0	251	5
PTPRT	11122	broad.mit.edu	37	20	40827896	40827896	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:40827896C>T	ENST00000373198.3	-	17	2776	c.2541G>A	c.(2539-2541)caG>caA	p.Q847Q	PTPRT_ENST00000373190.1_Silent_p.Q825Q|PTPRT_ENST00000373187.1_Silent_p.Q825Q|PTPRT_ENST00000373193.3_Silent_p.Q828Q|PTPRT_ENST00000373184.1_Silent_p.Q815Q|PTPRT_ENST00000373201.1_Silent_p.Q815Q|PTPRT_ENST00000356100.2_Silent_p.Q834Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	155	348	0	502	825					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			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGTTGACGTCCTGAGAACTAG	0.567000													1	1	1	1	1	1	1.000000	164	383	0	562	0	0	0	0	0	562	5
PTPRT	11122	broad.mit.edu	37	20	40944562	40944562	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:40944562G>A	ENST00000373198.3	-	12	2175	c.1940C>T	c.(1939-1941)tCg>tTg	p.S647L	PTPRT_ENST00000373190.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373187.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373193.3_Missense_Mutation_p.S647L|PTPRT_ENST00000373184.1_Missense_Mutation_p.S647L|PTPRT_ENST00000373201.1_Missense_Mutation_p.S647L|PTPRT_ENST00000356100.2_Missense_Mutation_p.S647L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	51	78	0	96	647	Fibronectin type-III 4.				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			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACGGGCACCGAAAAGCACTC	0.517000													1	1	1	1	1	1	1.000000	54	81	0	98	0	0	0	0	0	98	5
L3MBTL1	26013	broad.mit.edu	37	20	42163004	42163004	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:42163004C>T	ENST00000444063.1	+	12	1542	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	L3MBTL1_ENST00000418998.1_Silent_p.S538S|L3MBTL1_ENST00000427442.2_Silent_p.S538S|L3MBTL1_ENST00000373135.3_Silent_p.S470S|L3MBTL1_ENST00000373134.1_Silent_p.S470S			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	27	38	0	69	470					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			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCGTGGCCAGCGTGGAGGATG	0.602000													1	1	1	1	1	1	1.000000	33	40	0	81	1	8.903251e-01	3	4	0	81	5
SGK2	10110	broad.mit.edu	37	20	42203567	42203567	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:42203567C>T	ENST00000373100.1	+	11	1076	c.616C>T	c.(616-618)Ctt>Ttt	p.L206F	SGK2_ENST00000341458.4_Missense_Mutation_p.L266F|SGK2_ENST00000373092.3_Missense_Mutation_p.L206F|SGK2_ENST00000423407.3_Missense_Mutation_p.L206F|SGK2_ENST00000426287.1_Missense_Mutation_p.L232F|SGK2_ENST00000373077.1_Missense_Mutation_p.L205F			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	22	23	0	57	266	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			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCTGAAGTGCTTCGGAAAGA	0.502000													1	1	1	1	1	1	1.000000	23	24	0	64	1	9.948825e-01	7	6	0	64	5
KCNK15	60598	broad.mit.edu	37	20	43378957	43378957	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43378957G>T	ENST00000372861.3	+	2	602	c.471G>T	c.(469-471)gaG>gaT	p.E157D		NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	15	8	0	13	157						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				TGTCCACGGAGAACCTGGTGG	0.701000													0	1	1	1	1	1	0.999991	15	10	0	14	1	9.976768e-01	4	8	0	14	4
STK4	6789	broad.mit.edu	37	20	43653766	43653766	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43653766G>A	ENST00000372806.3	+	10	1395	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	STK4_ENST00000396731.4_Missense_Mutation_p.E434K|STK4_ENST00000372801.1_Missense_Mutation_p.E434K|STK4_ENST00000499879.2_Missense_Mutation_p.E379K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	12	37	0	44	434	SARAH.				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			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TGGAGACTACGAGTTTGTAAG	0.378000													1	1	1	1	1	1	0.999760	13	40	0	47	1	5.552602e-01	4	3	0	47	5
SEMG1	6406	broad.mit.edu	37	20	43836602	43836602	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43836602A>C	ENST00000372781.3	+	2	721	c.664A>C	c.(664-666)Aat>Cat	p.N222H	SEMG1_ENST00000244069.6_Missense_Mutation_p.N222H	NM_003007.3	NP_002998.1			semenogelin I	34	64	0	82											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GCATTACCAAAATGTGGTTGA	0.398000													1	1	1	1	1	1	1.000000	35	65	0	84	0	0	0	0	0	84	5
SEMG2	6407	broad.mit.edu	37	20	43851032	43851032	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:43851032T>G	ENST00000372769.3	+	2	849	c.759T>G	c.(757-759)atT>atG	p.I253M		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	38	73	0	101	253	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCAAAGACATTTTTACTACCC	0.403000													1	1	1	1	1	1	1.000000	42	80	0	112	0	0	0	0	0	112	5
SNX21	90203	broad.mit.edu	37	20	44469369	44469369	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:44469369G>A	ENST00000372542.1	+	3	824	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000342644.5_Missense_Mutation_p.R180Q|SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000491381.1_Missense_Mutation_p.R180Q			Q969T3	SNX21_HUMAN	sorting nexin family member 21	50	126	0	178	180	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CGGCTGCACCGAAACCTGCAG	0.637000													1	1	1	1	1	1	1.000000	57	134	0	184	1	9.599718e-01	3	12	0	184	5
MMP9	4318	broad.mit.edu	37	20	44639584	44639584	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:44639584G>A	ENST00000372330.3	+	4	563	c.544G>A	c.(544-546)Gac>Aac	p.D182N		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	33	55	0	86	182					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GTATCCCTTCGACGGGAAGGA	0.622000													1	1	1	1	1	1	1.000000	34	60	0	95	0	5.949123e-01	0	5	0	95	5
CDH22	64405	broad.mit.edu	37	20	44803550	44803550	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:44803550G>A	ENST00000372262.3	-	11	2482	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	CDH22_ENST00000537909.1_Silent_p.F694F	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	3	17	0	16	694					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TGAGCTCGCCGAAGTCGTAGA	0.731000													1	0	1	1	0	1	0.972020	6	18	0	16	0	0	0	0	0	16	3
SLC13A3	64849	broad.mit.edu	37	20	45194982	45194982	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:45194982C>A	ENST00000279027.4	-	11	1398	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	SLC13A3_ENST00000290317.5_Missense_Mutation_p.E413D|SLC13A3_ENST00000396360.1_Missense_Mutation_p.E378D|SLC13A3_ENST00000413164.2_Missense_Mutation_p.E410D|SLC13A3_ENST00000435032.1_Missense_Mutation_p.E45D|SLC13A3_ENST00000472148.1_Missense_Mutation_p.E378D|SLC13A3_ENST00000495082.1_Missense_Mutation_p.E413D	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	43	95	0	189	460						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGGGCACATTCTCCAGGGGGT	0.617000													1	1	1	1	1	1	1.000000	48	113	0	210	1	9.820282e-01	5	13	0	210	5
ZMYND8	23613	broad.mit.edu	37	20	45853141	45853141	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:45853141T>C	ENST00000311275.7	-	19	3278	c.3025A>G	c.(3025-3027)Aag>Gag	p.K1009E	ZMYND8_ENST00000372023.3_Missense_Mutation_p.K931E|ZMYND8_ENST00000540497.1_Missense_Mutation_p.K957E|ZMYND8_ENST00000360911.3_Missense_Mutation_p.K958E|ZMYND8_ENST00000536340.1_Missense_Mutation_p.K1036E|ZMYND8_ENST00000355972.4_Missense_Mutation_p.K1009E|ZMYND8_ENST00000262975.4_Missense_Mutation_p.K963E|ZMYND8_ENST00000461685.1_Missense_Mutation_p.K983E|ZMYND8_ENST00000352431.2_Missense_Mutation_p.K983E|ZMYND8_ENST00000396281.4_Missense_Mutation_p.K1009E|ZMYND8_ENST00000446994.2_Missense_Mutation_p.K900E|ZMYND8_ENST00000458360.2_Missense_Mutation_p.K877E|ZMYND8_ENST00000471951.2_Missense_Mutation_p.K1029E			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	60	110	0	139	1009							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCCAGCTGCTTCTTCACCTCG	0.592000													1	1	1	1	1	1	1.000000	62	117	0	156	1	9.999993e-01	23	23	0	156	5
ARFGEF2	10564	broad.mit.edu	37	20	47630161	47630161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47630161C>T	ENST00000371917.4	+	29	3979	c.3979C>T	c.(3979-3981)Cga>Tga	p.R1327*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	32	46	0	55	1327					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTCTGGGTCCGAGGCTGGTT	0.458000													1	1	1	1	1	1	1.000000	32	48	0	55	1	8.337794e-01	2	5	0	55	5
ARFGEF2	10564	broad.mit.edu	37	20	47649561	47649561	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47649561T>C	ENST00000371917.4	+	39	5183	c.5181_splice	c.e39-1	p.F1728_splice		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	16	28	0	47	1728					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CACCTCAAGTTCAAAGCACAT	0.403000													1	1	1	1	1	1	0.999983	16	29	0	52	1	9.043183e-01	8	2	0	52	5
STAU1	6780	broad.mit.edu	37	20	47733749	47733749	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47733749C>T	ENST00000371828.3	-	12	1808	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	STAU1_ENST00000347458.5_Missense_Mutation_p.E435K|STAU1_ENST00000360426.4_Missense_Mutation_p.E435K|STAU1_ENST00000340954.7_Missense_Mutation_p.E435K|STAU1_ENST00000371792.1_Missense_Mutation_p.E433K|STAU1_ENST00000371802.1_Missense_Mutation_p.E441K|STAU1_ENST00000371856.2_Missense_Mutation_p.E516K	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	39	56	0	83	516						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GATACAAATTCGTTCTTGTTG	0.483000													1	1	1	1	1	1	1.000000	41	59	0	84	1	1	74	112	0	84	5
KCNB1	3745	broad.mit.edu	37	20	47990349	47990349	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:47990349C>T	ENST00000371741.4	-	2	1914	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	33	47	0	84	583					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TGACATACTTCGCATGTCAAT	0.522000													1	1	1	1	1	1	1.000000	33	52	0	86	0	0	0	0	0	86	5
KCNG1	3755	broad.mit.edu	37	20	49621311	49621311	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:49621311G>T	ENST00000371571.4	-	3	1092	c.807C>A	c.(805-807)ttC>ttA	p.F269L	RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	9	14	0	16	269						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACTCCACGATGAAGACGTTGT	0.657000													1	1	1	1	1	1	0.998664	10	16	0	19	0	0	0	0	0	19	5
NFATC2	4773	broad.mit.edu	37	20	50092097	50092097	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:50092097C>T	ENST00000371564.3	-	4	1652	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	NFATC2_ENST00000396009.3_Missense_Mutation_p.R478Q|NFATC2_ENST00000414705.1_Missense_Mutation_p.R458Q	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	45	78	0	135	478	RHD.				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		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCCCGTGATTCGGTGCACCTG	0.522000													1	1	1	1	1	1	1.000000	49	88	0	143	1	2.964619e-01	3	0	0	143	5
DOK5	55816	broad.mit.edu	37	20	53171574	53171574	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:53171574C>A	ENST00000262593.5	+	2	519	c.169C>A	c.(169-171)Cat>Aat	p.H57N	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	11	14	0	24	57	PH.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CAGGTGTTATCATAAGGTAAG	0.373000													1	1	1	1	1	1	0.999984	15	14	0	27	0	0	0	0	0	27	5
AURKA	6790	broad.mit.edu	37	20	54948493	54948493	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:54948493A>G	ENST00000395909.4	-	9	1390	c.825T>C	c.(823-825)ttT>ttC	p.F275F	AURKA_ENST00000347343.2_Silent_p.F275F|AURKA_ENST00000395907.1_Silent_p.F275F|AURKA_ENST00000395913.3_Silent_p.F275F|AURKA_ENST00000395915.3_Silent_p.F275F|AURKA_ENST00000371356.2_Silent_p.F275F|AURKA_ENST00000312783.6_Silent_p.F275F|AURKA_ENST00000395914.1_Silent_p.F275F|AURKA_ENST00000395911.1_Silent_p.F275F	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	32	46	0	56	275	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			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			CTGACCACCCAAAATCTGCAA	0.423000													1	1	1	1	1	1	1.000000	35	48	0	59	1	1	51	49	0	59	5
FAM209A	200232	broad.mit.edu	37	20	55100881	55100881	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:55100881C>T	ENST00000371328.3	+	2	594	c.271C>T	c.(271-273)Cga>Tga	p.R91*	GCNT7_ENST00000243913.4_5'UTR|FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2			family with sequence similarity 209, member A	49	119	0	162																		TCCTGGCCTTCGAGGCGGCCA	0.438000													1	0	1	1	1	1	1.000000	51	125	0	175	0	0	0	0	0	175	4
PCK1	5105	broad.mit.edu	37	20	56137841	56137841	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:56137841G>A	ENST00000319441.4	+	4	660	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PCK1_ENST00000535860.1_Missense_Mutation_p.V34M|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	13	44	0	59	166					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			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	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)			TTCACCCTACGTGGTGGCCAG	0.617000													1	1	1	1	1	1	0.999731	13	49	0	61	0	5.048077e-02	0	2	0	61	5
RAB22A	57403	broad.mit.edu	37	20	56929309	56929309	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:56929309T>G	ENST00000244040.3	+	6	756	c.475T>G	c.(475-477)Ttt>Gtt	p.F159V		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	10	16	0	20	159					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			AAATGAACTCTTTATAGAAAT	0.393000													0	0	1	0	0	1	0.998664	10	16	0	20	1	9.999664e-01	20	26	0	20	1
GNAS	2778	broad.mit.edu	37	20	57428651	57428651	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:57428651T>G	ENST00000371100.4	+	1	883	c.331T>G	c.(331-333)Ttg>Gtg	p.L111V	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.L111V|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000306120.3_Silent_p.A47A|GNAS_ENST00000371102.4_Missense_Mutation_p.L111V	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	13	33	0	56	0					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			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACAGCCCAGCTTGGGAGGCTT	0.622000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)			1	1	1	1	1	1	0.999950	15	38	0	62	0	0	0	0	0	62	5
GNAS	2778	broad.mit.edu	37	20	57428722	57428722	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:57428722C>T	ENST00000306120.3	+	1	212	c.212C>T	c.(211-213)tCg>tTg	p.S71L	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371100.4_Silent_p.F134F|GNAS_ENST00000371099.2_Silent_p.F134F|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371102.4_Silent_p.F134F			P63092	GNAS2_HUMAN	GNAS complex locus	16	25	0	39	0					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			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TTGAGGCCTTCGGCCCAGCAC	0.617000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)			1	1	0	1	1	1	0.999983	16	28	0	43	0	0	0	0	0	43	4
SYCP2	10388	broad.mit.edu	37	20	58489048	58489048	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:58489048A>G	ENST00000357552.3	-	12	1037	c.812T>C	c.(811-813)aTg>aCg	p.M271T	SYCP2_ENST00000371001.2_Missense_Mutation_p.M271T			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	3	10	0	17	271					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GTCTCCAAGCATGCCATTTAC	0.299000													0	0	1	0	0	1	0.813793	3	11	0	18	1	1.715686e-01	3	0	0	18	1
FAM217B	63939	broad.mit.edu	37	20	58519545	58519545	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:58519545G>T	ENST00000358293.3	+	5	962	c.547G>T	c.(547-549)Gat>Tat	p.D183Y	FAM217B_ENST00000360816.3_Missense_Mutation_p.D183Y|FAM217B_ENST00000469084.1_3'UTR	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	24	43	0	59	183																	GAAGTATATCGATAGACTTAT	0.547000													1	1	1	1	1	1	1.000000	24	46	0	65	1	6.664399e-01	4	2	0	65	5
LSM14B	149986	broad.mit.edu	37	20	60701448	60701448	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:60701448C>T	ENST00000253001.4	+	3	586	c.380C>T	c.(379-381)gCg>gTg	p.A127V	LSM14B_ENST00000370915.1_Missense_Mutation_p.A127V|LSM14B_ENST00000279068.6_Missense_Mutation_p.A127V			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	3	25	0	35	127					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GGCCCGCTGGCGGCCAGCTCC	0.622000													0	0	0	1	1	1	0.894786	4	27	0	37	1	9.956482e-01	14	77	0	37	2
PSMA7	5688	broad.mit.edu	37	20	60713283	60713283	+	Missense_Mutation	SNP	C	C	T	rs12041		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:60713283C>T	ENST00000370873.4	-	5	661	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370861.1_Missense_Mutation_p.E109K	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	25	29	0	69	179					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			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TCAATGGCTTCGTCAGTATAG	0.493000													1	1	1	1	1	1	1.000000	26	31	0	74	1	1	353	556	0	74	5
ADRM1	11047	broad.mit.edu	37	20	60883729	60883729	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:60883729A>C	ENST00000253003.2	+	10	1182	c.1136A>C	c.(1135-1137)aAa>aCa	p.K379T	LAMA5_ENST00000492698.1_Intron	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	14	28	0	54	379	Interaction with UCHL5.				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			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			GCGTTTGCCAAAGCCATGCAG	0.552000													1	1	1	1	1	1	0.999981	16	31	0	60	1	1	155	237	0	60	5
GATA5	140628	broad.mit.edu	37	20	61040911	61040911	+	Missense_Mutation	SNP	C	C	T	rs148835474		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:61040911C>T	ENST00000252997.2	-	5	953	c.892G>A	c.(892-894)Gcc>Acc	p.A298T		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	4	10	0	15	298					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			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			CTGGCCTTGGCGATGGTCTTT	0.662000													1	0	0	1	1	1	0.899434	4	12	0	16	0	0	0	1	0	16	3
NTSR1	4923	broad.mit.edu	37	20	61341007	61341007	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:61341007G>A	ENST00000370501.3	+	1	819	c.448G>A	c.(448-450)Gcc>Acc	p.A150T		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	36	75	1	113	150						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CCTGCGCGACGCCTGCACCTA	0.667000													1	0	1	1	1	1	1.000000	38	77	1	119	0	0	0	1	1	119	4
NTSR1	4923	broad.mit.edu	37	20	61341123	61341123	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:61341123C>A	ENST00000370501.3	+	1	935	c.564C>A	c.(562-564)ttC>ttA	p.F188L		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	33	80	0	118	188						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CCAAGAAGTTCATCAGCGCCA	0.677000													1	1	1	1	1	1	1.000000	33	85	0	134	1	8.195592e-02	2	0	0	134	5
DIDO1	11083	broad.mit.edu	37	20	61527689	61527689	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:61527689G>T	ENST00000266070.4	-	8	2435	c.2110C>A	c.(2110-2112)Ctc>Atc	p.L704I	DIDO1_ENST00000395343.1_Missense_Mutation_p.L704I|DIDO1_ENST00000395340.1_Missense_Mutation_p.L704I|DIDO1_ENST00000395335.2_Missense_Mutation_p.L704I	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	20	34	0	56	704	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCAATATGGAGGGCAATTTTT	0.353000													1	1	1	1	1	1	0.999999	20	34	0	58	1	9.777719e-01	5	9	0	58	5
C20orf195	79025	broad.mit.edu	37	20	62187143	62187143	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:62187143G>T	ENST00000370098.3	+	2	219	c.127G>T	c.(127-129)Gag>Tag	p.E43*	C20orf195_ENST00000370097.1_Nonsense_Mutation_p.E43*	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	18	37	0	64	43										large_intestine(3)|lung(4)	7	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)			GACCTACACCGAGCGCCGCAA	0.627000													1	1	1	1	1	1	0.999995	18	41	0	70	1	8.815955e-01	4	7	0	70	5
C20orf195	79025	broad.mit.edu	37	20	62187416	62187416	+	Missense_Mutation	SNP	G	G	A	rs143315774	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:62187416G>A	ENST00000370098.3	+	2	492	c.400G>A	c.(400-402)Gac>Aac	p.D134N	C20orf195_ENST00000370097.1_Missense_Mutation_p.D134N	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	17	36	0	68	134										large_intestine(3)|lung(4)	7	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)			GGAACAGCTCGACCATGGCCG	0.667000													1	1	1	1	1	1	0.999990	17	37	0	71	1	8.191152e-01	5	4	0	71	5
OPRL1	4987	broad.mit.edu	37	20	62729974	62729974	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:62729974G>A	ENST00000349451.3	+	6	1347	c.935G>A	c.(934-936)aGc>aAc	p.S312N	OPRL1_ENST00000336866.2_Missense_Mutation_p.S312N|OPRL1_ENST00000355631.4_Missense_Mutation_p.S312N	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	35	50	0	103	312					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)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TACGTCAACAGCTGCCTCAAC	0.637000													1	1	1	1	1	1	1.000000	35	53	0	112	1	3.535595e-01	2	1	0	112	5
TPTE	7179	broad.mit.edu	37	21	10906987	10906987	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10906987C>T	ENST00000298232.7	-	23	1887	c.1520G>A	c.(1519-1521)aGa>aAa	p.R507K	TPTE_ENST00000361285.4_Missense_Mutation_p.R525K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R487K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	6	54	0	34	525	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TGGATAAATTCTCCGTGCTTT	0.358000													1	1	1	1	0	1	0.982642	7	58	0	35	0	0	0	0	0	35	4
TPTE	7179	broad.mit.edu	37	21	10908881	10908881	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10908881G>T	ENST00000298232.7	-	22	1777	c.1410C>A	c.(1408-1410)taC>taA	p.Y470*	TPTE_ENST00000361285.4_Nonsense_Mutation_p.Y488*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Nonsense_Mutation_p.Y450*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	8	29	0	20	488	C2 tensin-type.		L -> P (in dbSNP:rs150482).		signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		AATTGTCATAGTATGTAGGAA	0.274000													1	0	1	1	0	1	0.991943	8	32	0	21	0	0	0	0	0	21	3
TPTE	7179	broad.mit.edu	37	21	10920137	10920137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10920137G>A	ENST00000298232.7	-	18	1430	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	TPTE_ENST00000361285.4_Nonsense_Mutation_p.R373*|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Nonsense_Mutation_p.R335*	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	11	61	0	37	373	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TTATCTGTTCGCCTTTCTCCA	0.383000													1	1	1	1	0	1	0.999365	12	69	0	42	0	0	0	0	0	42	4
TPTE	7179	broad.mit.edu	37	21	10934966	10934966	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10934966C>T	ENST00000298232.7	-	14	1140	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	TPTE_ENST00000361285.4_Missense_Mutation_p.R276Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R238Q	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	17	91	0	72	276	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R258Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ATAGTGGTTTCGGTGTTTCTT	0.363000													1	1	0	1	0	1	0.999989	18	103	0	74	0	0	0	0	0	74	3
TPTE	7179	broad.mit.edu	37	21	10942994	10942994	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:10942994C>T	ENST00000298232.7	-	11	906	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	TPTE_ENST00000361285.4_Missense_Mutation_p.R198Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R160Q	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	6	44	0	26	198					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		AATAATAAGTCGTAGAAGTCG	0.308000													1	0	1	1	0	1	0.968206	6	44	0	29	0	0	0	0	0	29	3
LIPI	149998	broad.mit.edu	37	21	15561492	15561492	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:15561492T>C	ENST00000344577.2	-	2	383	c.358A>G	c.(358-360)Att>Gtt	p.I120V	LIPI_ENST00000536861.1_Missense_Mutation_p.I99V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	12	28	0	48	99					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTCAGCAAAATCCTTACGAAG	0.368000													1	1	1	1	1	1	0.999575	12	30	0	59	0	0	0	0	0	59	5
NRIP1	8204	broad.mit.edu	37	21	16337987	16337987	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:16337987C>A	ENST00000400202.1	-	3	3239	c.2527G>T	c.(2527-2529)Gaa>Taa	p.E843*	NRIP1_ENST00000318948.4_Nonsense_Mutation_p.E843*|NRIP1_ENST00000400199.1_Nonsense_Mutation_p.E843*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	27	39	0	71	843	Repression domain 3.				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			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				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)		AGTGCCATTTCATTATTTCTG	0.353000													1	1	1	1	1	1	1.000000	29	43	0	79	1	9.999829e-01	18	15	0	79	5
NRIP1	8204	broad.mit.edu	37	21	16339938	16339938	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:16339938A>G	ENST00000400202.1	-	3	1288	c.576T>C	c.(574-576)agT>agC	p.S192S	NRIP1_ENST00000318948.4_Silent_p.S192S|NRIP1_ENST00000400199.1_Silent_p.S192S			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	22	38	0	45	192	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			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				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)		CTTTAACTTTACTTTTCTTCA	0.378000													1	1	1	1	1	1	1.000000	22	40	0	46	1	9.501691e-01	7	5	0	46	5
USP25	29761	broad.mit.edu	37	21	17191113	17191113	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:17191113A>G	ENST00000285681.2	+	10	1397	c.1028A>G	c.(1027-1029)gAa>gGa	p.E343G	USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.E343G|USP25_ENST00000400183.2_Missense_Mutation_p.E343G			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	32	55	0	115	343					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				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)		GCAATGATTGAAGGAGAAATT	0.383000													1	1	1	1	1	1	1.000000	35	58	0	123	1	9.999843e-01	17	18	0	123	5
USP25	29761	broad.mit.edu	37	21	17214759	17214759	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:17214759G>T	ENST00000285681.2	+	18	2606	c.2237G>T	c.(2236-2238)aGa>aTa	p.R746I	USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.R746I|USP25_ENST00000400183.2_Missense_Mutation_p.R746I			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	21	53	0	72	746					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				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)		CAGCCATCAAGAAGTGATTTC	0.358000													1	1	1	1	1	1	1.000000	23	56	0	80	1	9.999983e-01	26	38	0	80	5
USP25	29761	broad.mit.edu	37	21	17250144	17250144	+	Silent	SNP	C	C	T	rs139540201		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:17250144C>T	ENST00000285681.2	+	24	3294	c.2925C>T	c.(2923-2925)ttC>ttT	p.F975F	USP25_ENST00000351097.5_Silent_p.F338F|USP25_ENST00000285679.6_Silent_p.F943F|USP25_ENST00000400183.2_Silent_p.F1013F			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	7	10	0	16	943					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				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)		CAGAACTCTTCGAATCTGGAG	0.323000													1	1	0	1	1	1	0.994961	8	10	0	18	1	9.999999e-01	52	52	0	18	4
USP25	29761	broad.mit.edu	37	21	17250772	17250772	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:17250772G>A	ENST00000285681.2	+	25	3611	c.3242G>A	c.(3241-3243)cGa>cAa	p.R1081Q	USP25_ENST00000351097.5_Missense_Mutation_p.R444Q|USP25_ENST00000285679.6_Missense_Mutation_p.R1049Q|USP25_ENST00000400183.2_Missense_Mutation_p.R1119Q			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	17	31	0	45	1049					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R1049Q(2)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				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)		TCCCTCAGTCGAACTCCTGCT	0.438000													1	1	1	1	1	1	1.000000	21	35	0	55	1	1	56	76	0	55	5
CHODL	140578	broad.mit.edu	37	21	19628962	19628962	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:19628962G>T	ENST00000299295.2	+	2	607	c.216G>T	c.(214-216)gaG>gaT	p.E72D	CHODL_ENST00000400128.1_Missense_Mutation_p.E31D|CHODL_ENST00000400127.1_Missense_Mutation_p.E31D|CHODL_ENST00000400131.1_Missense_Mutation_p.E31D|CHODL_ENST00000400135.1_Missense_Mutation_p.E31D|CHODL_ENST00000543733.1_Missense_Mutation_p.E53D|CHODL_ENST00000338326.3_Missense_Mutation_p.E31D	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	11	84	0	102	72	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		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)		TCAGCCTTGAGAATGAAGCAG	0.502000													1	1	1	1	1	1	0.998638	11	93	0	113	0	1.375419e-02	0	2	0	113	5
NCAM2	4685	broad.mit.edu	37	21	22790860	22790860	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:22790860G>T	ENST00000400546.1	+	11	1700	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I	NCAM2_ENST00000284894.7_Missense_Mutation_p.R342I	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	24	42	0	55	484	Ig-like C2-type 5.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		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)		ATAGGAACAAGATTTCAAGAA	0.308000													1	1	1	1	1	1	1.000000	26	47	0	60	0	4.538093e-01	0	4	0	60	5
MRPL39	54148	broad.mit.edu	37	21	26978793	26978793	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:26978793T>G	ENST00000307301.7	-	2	289	c.248A>C	c.(247-249)aAa>aCa	p.K83T	MRPL39_ENST00000352957.4_Missense_Mutation_p.K83T	NM_080794.3	NP_542984.2	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	10	25	0	49	83						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TGAAATGTTTTTATTCATCAC	0.433000													1	1	1	1	0	1	0.999584	12	29	0	59	1	9.999998e-01	53	50	0	59	4
APP	351	broad.mit.edu	37	21	27347537	27347537	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:27347537A>G	ENST00000358918.3	-	11	1503	c.1304T>C	c.(1303-1305)tTc>tCc	p.F435S	APP_ENST00000440126.3_Missense_Mutation_p.F411S|APP_ENST00000346798.3_Missense_Mutation_p.F435S|APP_ENST00000359726.3_Missense_Mutation_p.F379S|APP_ENST00000357903.3_Missense_Mutation_p.F416S|APP_ENST00000354192.3_Missense_Mutation_p.F304S|APP_ENST00000448388.2_Missense_Mutation_p.F325S|APP_ENST00000439274.2_Missense_Mutation_p.F379S|APP_ENST00000348990.5_Missense_Mutation_p.F360S	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	16	41	0	75	435					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|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TTTCTCCTGGAAATGCTGCCA	0.453000													1	1	1	1	1	1	1.000000	21	42	0	86	1	1	650	634	0	86	5
ADAMTS1	9510	broad.mit.edu	37	21	28212196	28212196	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:28212196T>A	ENST00000284984.2	-	6	2304	c.1850A>T	c.(1849-1851)aAt>aTt	p.N617I		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	31	72	0	102	617	Cys-rich.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CTCCTCACCATTATTGTCTGG	0.433000													1	1	1	1	1	1	1.000000	33	75	0	108	1	9.995800e-01	9	23	0	108	5
N6AMT1	29104	broad.mit.edu	37	21	30248814	30248814	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30248814C>A	ENST00000303775.5	-	6	564		c.e6-1		N6AMT1_ENST00000351429.3_Splice_Site	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	13	15	0	31						positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						AAAATTTCTTCTAAAATAAAA	0.323000													1	1	1	1	1	1	0.999898	13	15	0	31	0	7.492669e-01	0	5	0	31	5
LTN1	26046	broad.mit.edu	37	21	30358482	30358482	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30358482C>A	ENST00000361371.4	-	3	473	c.323G>T	c.(322-324)aGa>aTa	p.R108I	LTN1_ENST00000389195.2_Missense_Mutation_p.R154I|LTN1_ENST00000389194.2_Missense_Mutation_p.R154I	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	10	10	0	13	108							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GCAAAAAATTCTTGGCCAATA	0.318000													0	1	1	1	1	1	0.998784	10	14	0	15	0	3.894994e-01	0	3	0	15	4
RWDD2B	10069	broad.mit.edu	37	21	30380935	30380935	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30380935G>A	ENST00000493196.1	-	2	175	c.75C>T	c.(73-75)taC>taT	p.Y25Y	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	11	16	0	33	25										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						TTGGACATGTGTAAGTTTCTA	0.403000													1	1	1	1	1	1	0.999743	12	16	0	33	1	9.992902e-01	12	12	0	33	5
USP16	0	broad.mit.edu	37	21	30403021	30403021	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:30403021A>C	ENST00000334352.4	+	4	398	c.167A>C	c.(166-168)aAa>aCa	p.K56T	USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Missense_Mutation_p.K56T|USP16_ENST00000399976.2_Missense_Mutation_p.K56T	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	10	38	0	55	56					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			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ACTGACAATAAAGTGAAAGAT	0.368000													1	1	1	1	1	1	0.997889	10	39	0	60	1	9.057161e-01	10	9	0	60	5
KRTAP19-3	337970	broad.mit.edu	37	21	31864143	31864143	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:31864143C>A	ENST00000334063.4	-	1	132	c.133G>T	c.(133-135)Gga>Tga	p.G45*		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	143	245	0	343	45						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						GAGCCATATCCGTAGCCTCCA	0.567000													1	0	1	1	1	1	1.000000	157	261	1	380	0	0	0	0	1	380	4
KRTAP6-2	337967	broad.mit.edu	37	21	31971111	31971111	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:31971111C>T	ENST00000334897.3	-	1	108	c.83G>A	c.(82-84)gGa>gAa	p.G28E		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	36	64	0	78	28						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GCGCAGGCTTCCATAGCCATA	0.572000													1	1	1	1	1	1	1.000000	37	66	0	89	0	0	0	0	0	89	5
KRTAP21-2	337978	broad.mit.edu	37	21	32119291	32119291	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:32119291C>A	ENST00000333892.2	-	1	260	c.230G>T	c.(229-231)aGa>aTa	p.R77I		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	73	115	0	137	77						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						GGAATAGCATCTTCTGTAGCA	0.483000													1	1	1	1	1	1	1.000000	78	121	0	149	0	0	0	0	0	149	5
TIAM1	7074	broad.mit.edu	37	21	32638913	32638913	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:32638913T>G	ENST00000286827.3	-	5	847	c.376A>C	c.(376-378)Atg>Ctg	p.M126L	TIAM1_ENST00000541036.1_Missense_Mutation_p.M126L|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	44	60	0	89	126					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			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTGTCTGGCATGCTCTGCACA	0.552000													1	1	1	1	1	1	1.000000	44	63	0	92	0	0	1	0	0	92	5
HUNK	30811	broad.mit.edu	37	21	33346944	33346944	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:33346944T>C	ENST00000270112.2	+	7	1448	c.1088T>C	c.(1087-1089)aTc>aCc	p.I363T	HUNK_ENST00000465574.1_3'UTR	NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	16	92	0	62	363					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGCGACGTGATCAACACTGTG	0.542000													1	1	1	1	1	1	0.999989	18	96	0	64	1	1.907785e-01	2	3	0	64	5
EVA1C	59271	broad.mit.edu	37	21	33829907	33829907	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:33829907G>T	ENST00000300255.2	+	3	833	c.360G>T	c.(358-360)aaG>aaT	p.K120N	EVA1C_ENST00000401402.3_Missense_Mutation_p.K120N|EVA1C_ENST00000382699.3_Missense_Mutation_p.K120N	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)	33	43	0	65																		CCTTCTAGAAGGTGCTGGACG	0.557000													1	1	1	1	1	1	1.000000	36	46	0	74	1	9.997867e-01	12	6	0	74	5
TCP10L	140290	broad.mit.edu	37	21	33949164	33949164	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:33949164G>T	ENST00000300258.3	-	5	681	c.568C>A	c.(568-570)Ctt>Att	p.L190I	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like	31	52	0	63											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						CTCCTGGAAAGATTTTTATCT	0.448000													1	1	1	1	1	1	1.000000	33	55	0	65	0	7.224547e-01	1	5	0	65	5
SYNJ1	8867	broad.mit.edu	37	21	34003475	34003475	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34003475A>C	ENST00000382491.3	-	28	4535	c.4411T>G	c.(4411-4413)Ttg>Gtg	p.L1471V	SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Missense_Mutation_p.L1518V|SYNJ1_ENST00000433931.2_Missense_Mutation_p.L1557V|SYNJ1_ENST00000382499.2_3'UTR	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	16	72	0	75	1518	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCATCATTCAATGTCAGGTTG	0.493000													1	1	1	1	1	1	0.999991	18	75	0	82	0	0	0	1	0	82	5
SYNJ1	8867	broad.mit.edu	37	21	34045776	34045776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34045776G>A	ENST00000382499.2	-	14	1716	c.1717C>T	c.(1717-1719)Cga>Tga	p.R573*	SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R534*|SYNJ1_ENST00000322229.7_Nonsense_Mutation_p.R534*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R573*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R529*	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	14	26	0	39	534	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.R534*(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACACATACTCGAATTTTCTTA	0.388000													1	1	1	1	1	1	0.999919	14	27	0	43	0	0	0	1	0	43	5
C21orf62	56245	broad.mit.edu	37	21	34166104	34166104	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34166104T>C	ENST00000536776.1	-	2	769	c.629A>G	c.(628-630)aAc>aGc	p.N210S	C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000382375.4_Intron|C21orf62_ENST00000479548.1_Missense_Mutation_p.N210S|C21orf49_ENST00000477513.1_Intron|C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000490358.1_Missense_Mutation_p.N210S|C21orf49_ENST00000382378.1_Intron|C21orf62_ENST00000487113.1_Missense_Mutation_p.N210S	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	26	53	0	46	210										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				ATAGCTTTTGTTGCTTGGCAT	0.373000													1	1	1	1	1	1	1.000000	30	57	0	49	0	0	0	0	0	49	5
GART	2618	broad.mit.edu	37	21	34889392	34889392	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34889392G>A	ENST00000381831.3	-	16	2274	c.2011C>T	c.(2011-2013)Cgt>Tgt	p.R671C	GART_ENST00000543717.1_Missense_Mutation_p.R223C|GART_ENST00000381815.4_Missense_Mutation_p.R671C|GART_ENST00000381839.3_Missense_Mutation_p.R671C	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	5	93	0	95	671	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			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGTCCTGAACGTAGGACAGGT	0.448000													1	1	1	1	0	1	0.966472	6	96	0	102	1	9.804220e-01	5	115	0	102	4
SON	6651	broad.mit.edu	37	21	34921873	34921873	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34921873A>C	ENST00000356577.4	+	3	811	c.336A>C	c.(334-336)aaA>aaC	p.K112N	SON_ENST00000300278.4_Missense_Mutation_p.K112N|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.K112N|SON_ENST00000290239.6_Missense_Mutation_p.K112N	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	11	18	0	21	112					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			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AGAAGCATAAAAAGCACaaaa	0.328000											OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1	1	1	1	1	1	0.999855	13	21	0	21	1	9.830963e-01	4	11	0	21	5
SON	6651	broad.mit.edu	37	21	34927011	34927011	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34927011G>A	ENST00000356577.4	+	3	5949	c.5474G>A	c.(5473-5475)cGa>cAa	p.R1825Q	SON_ENST00000300278.4_Missense_Mutation_p.R1825Q|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.R1825Q|SON_ENST00000290239.6_Missense_Mutation_p.R1825Q	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	28	54	0	75	1825					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			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTAAGATCTCGAAGTAAGCGT	0.393000													1	1	1	1	1	1	1.000000	31	59	0	81	1	1	57	76	0	81	5
SON	6651	broad.mit.edu	37	21	34948145	34948145	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:34948145A>G	ENST00000356577.4	+	11	7642	c.7167A>G	c.(7165-7167)gaA>gaG	p.E2389E	SON_ENST00000470533.1_3'UTR|SON_ENST00000381692.2_Silent_p.E417E|DONSON_ENST00000303113.6_Intron|SON_ENST00000290239.6_3'UTR|AP000304.2_ENST00000439593.1_RNA	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	18	18	0	43	2389	DRBM.				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			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACCACCTGAATTTCTATTGG	0.358000													1	1	1	1	1	1	0.999999	19	18	0	55	1	1	77	94	0	55	5
RUNX1	861	broad.mit.edu	37	21	36259341	36259341	+	Silent	SNP	G	G	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:36259341G>C	ENST00000344691.4	-	1	1646	c.69C>G	c.(67-69)ggC>ggG	p.G23G	RUNX1_ENST00000358356.5_Silent_p.G23G|RUNX1_ENST00000300305.3_Silent_p.G50G|RUNX1_ENST00000325074.5_Silent_p.G38G|RUNX1_ENST00000437180.1_Silent_p.G50G|RUNX1_ENST00000486278.2_Silent_p.G26G|RUNX1_ENST00000399240.1_Silent_p.G23G	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	13	25	0	25	23					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	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.F40fs*14(1)|p.R38fs*16(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGCTCATCTTGCCTGGGCTCA	0.692000			T	RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4	AML, preB- ALL, T-ALL								1	1	1	1	0	1	0.999921	14	26	0	26	1	9.994972e-01	10	21	0	26	4
SETD4	54093	broad.mit.edu	37	21	37431146	37431146	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:37431146C>T	ENST00000399215.1	-	1	1413	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	SETD4_ENST00000332131.4_Missense_Mutation_p.R14Q|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399208.2_Missense_Mutation_p.R14Q|SETD4_ENST00000399212.1_5'UTR|SETD4_ENST00000399207.1_Missense_Mutation_p.R14Q|SETD4_ENST00000399205.1_5'UTR|SETD4_ENST00000399201.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4	31	74	0	107	14										autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GCAGAGTTTTCGTCTTCTGAT	0.348000													1	1	1	1	1	1	1.000000	35	85	0	123	1	9.983303e-01	15	13	0	123	5
DOPEY2	9980	broad.mit.edu	37	21	37626108	37626108	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:37626108C>T	ENST00000399151.3	+	23	5245	c.5160C>T	c.(5158-5160)gtC>gtT	p.V1720V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	40	78	0	128	1720					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TAACCCTTGTCGACTTGGTGT	0.493000													1	1	1	1	1	1	1.000000	49	86	0	154	1	9.860963e-01	2	13	0	154	5
TTC3	7267	broad.mit.edu	37	21	38538603	38538603	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:38538603A>C	ENST00000399017.2	+	33	6834	c.4087A>C	c.(4087-4089)Aga>Cga	p.R1363R	TTC3_ENST00000355666.1_Silent_p.R1363R|TTC3_ENST00000354749.2_Silent_p.R1363R|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	41	71	0	92	1363					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TCAGCTACCAAGATCAGTACC	0.468000													1	1	1	1	1	1	1.000000	45	73	0	95	1	9.998671e-01	13	14	0	95	5
ERG	2078	broad.mit.edu	37	21	39775498	39775498	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:39775498G>A	ENST00000442448.1	-	6	814	c.543C>T	c.(541-543)gaC>gaT	p.D181D	ERG_ENST00000288319.7_Silent_p.D174D|ERG_ENST00000398905.1_Silent_p.D174D|ERG_ENST00000429727.2_Intron|ERG_ENST00000398911.1_Silent_p.D181D|ERG_ENST00000398919.2_Silent_p.D181D|ERG_ENST00000398910.1_Silent_p.D181D|ERG_ENST00000398907.1_Silent_p.D174D|ERG_ENST00000417133.2_Silent_p.D181D|ERG_ENST00000398897.1_Silent_p.D82D|ERG_ENST00000453032.2_Silent_p.D82D	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	31	52	0	54	181	PNT.				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		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TCTGGAAGTCGTCCTTGGTCA	0.522000			T	EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1	Ewing sarcoma, prostate, AML								1	1	1	1	1	1	1.000000	34	56	0	59	0	3.258631e-01	0	3	0	59	5
IGSF5	150084	broad.mit.edu	37	21	41151135	41151135	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41151135G>A	ENST00000380588.4	+	5	940	c.837G>A	c.(835-837)ccG>ccA	p.P279P	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	26	41	1	73	279						integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTCTGACGCCGACGTGTACTC	0.483000													1	0	1	1	1	1	1.000000	28	44	1	78	0	0	0	0	1	78	4
IGSF5	150084	broad.mit.edu	37	21	41151230	41151230	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41151230G>T	ENST00000380588.4	+	5	1035	c.932G>T	c.(931-933)aGa>aTa	p.R311I	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	9	26	0	28	311						integral to membrane|tight junction		p.R311I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				AGAAGAAAAAGAGGTAATTTT	0.413000													1	1	1	1	1	1	0.996134	9	29	0	28	0	0	0	0	0	28	5
DSCAM	1826	broad.mit.edu	37	21	41447035	41447035	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41447035A>G	ENST00000400454.1	-	27	5294	c.4817T>C	c.(4816-4818)gTc>gCc	p.V1606A		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	23	28	0	59	1606					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGCAGCAAGACCCCCACCAG	0.582000													1	1	1	1	1	1	1.000000	24	29	0	64	0	0	0	0	0	64	5
DSCAM	1826	broad.mit.edu	37	21	41559882	41559882	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41559882G>T	ENST00000400454.1	-	13	3063	c.2586C>A	c.(2584-2586)ttC>ttA	p.F862L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	16	26	0	26	862	Ig-like C2-type 9.				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			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGCAGGAAAAGAAACCAGAAT	0.403000													1	1	1	1	1	1	0.999993	17	26	0	31	0	0	0	0	0	31	5
DSCAM	1826	broad.mit.edu	37	21	41710160	41710160	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:41710160C>T	ENST00000400454.1	-	8	2128	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	26	68	0	82	551	Ig-like C2-type 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			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAAATGCCACTTGGCGGTGG	0.458000													1	1	1	1	1	1	1.000000	27	71	0	91	0	0	0	0	0	91	5
FAM3B	54097	broad.mit.edu	37	21	42720602	42720602	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:42720602T>G	ENST00000398652.3	+	8	752	c.686T>G	c.(685-687)tTt>tGt	p.F229C	FAM3B_ENST00000398646.3_Missense_Mutation_p.F213C|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Missense_Mutation_p.F142C|FAM3B_ENST00000357985.2_Missense_Mutation_p.F190C			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	19	36	0	47	190					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				AGCTGGGTATTTATTGCAGCA	0.418000													1	1	1	1	1	1	0.999999	20	38	0	50	1	9.994740e-01	12	17	0	50	5
ZBTB21	49854	broad.mit.edu	37	21	43412056	43412056	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:43412056C>T	ENST00000310826.5	-	3	2332	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E717K|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E717K	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21	93	168	0	242																		TCCTTGTTTTCTACTGGACTT	0.478000													1	0	1	1	1	1	1.000000	102	182	1	266	1	6.970988e-01	2	4	1	266	4
UBASH3A	53347	broad.mit.edu	37	21	43846924	43846924	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:43846924T>C	ENST00000319294.6	+	8	1196	c.1165T>C	c.(1165-1167)Ttg>Ctg	p.L389L	UBASH3A_ENST00000398367.1_Silent_p.L351L|UBASH3A_ENST00000291535.6_Silent_p.L351L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	14	65	0	63	389						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTTACAGGCCTTGCAGGTAAT	0.448000													1	1	1	1	1	1	0.999842	14	72	0	67	0	0	0	1	0	67	5
UBASH3A	53347	broad.mit.edu	37	21	43862683	43862683	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:43862683T>G	ENST00000319294.6	+	12	1639	c.1608T>G	c.(1606-1608)aaT>aaG	p.N536K	UBASH3A_ENST00000398367.1_Missense_Mutation_p.N498K|UBASH3A_ENST00000291535.6_Missense_Mutation_p.N498K	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	32	52	0	85	536	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AAGAGGCAAATTTCAACATTG	0.413000													1	1	1	1	1	1	1.000000	34	60	0	96	0	0	0	0	0	96	5
PDE9A	5152	broad.mit.edu	37	21	44152236	44152236	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:44152236T>C	ENST00000291539.6	+	6	557		c.e6+2		PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000470987.1_Splice_Site|PDE9A_ENST00000398224.3_Splice_Site|PDE9A_ENST00000398225.3_Splice_Site|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000335512.4_Splice_Site|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000398232.3_Splice_Site|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398234.3_Splice_Site|PDE9A_ENST00000328862.6_Splice_Site|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000398236.3_Splice_Site	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	8	19	0	26						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			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GTTCTCAAGGTACAGAGTCTT	0.527000													1	1	1	1	1	1	0.996410	9	24	0	27	0	0	0	0	0	27	5
RRP1B	23076	broad.mit.edu	37	21	45107839	45107839	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45107839A>G	ENST00000340648.4	+	13	1701	c.1584A>G	c.(1582-1584)ggA>ggG	p.G528G		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	42	49	0	98	528					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GGAAACTTGGAGTTGTGCCCG	0.632000													1	1	1	1	1	1	1.000000	46	52	0	102	1	9.999980e-01	13	17	0	102	5
ICOSLG	23308	broad.mit.edu	37	21	45658337	45658337	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45658337G>A	ENST00000407780.3	-	2	176	c.49C>T	c.(49-51)Cga>Tga	p.R17*	ICOSLG_ENST00000400377.3_Nonsense_Mutation_p.R17*|ICOSLG_ENST00000400379.3_Nonsense_Mutation_p.R17*|ICOSLG_ENST00000344330.4_Nonsense_Mutation_p.R17*			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	5	34	0	38	17					B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	p.R17*(1)		endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TTACCAGCTCGAAGGCTGCTG	0.607000													1	0	1	1	1	1	0.941401	5	39	0	46	0	9.244086e-02	0	4	0	46	4
TRPM2	7226	broad.mit.edu	37	21	45819213	45819213	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45819213G>T	ENST00000397928.1	+	14	2542	c.2097G>T	c.(2095-2097)gaG>gaT	p.E699D	TRPM2_ENST00000300482.5_Missense_Mutation_p.E699D|TRPM2_ENST00000397932.2_Missense_Mutation_p.E699D|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.E679D	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	28	75	0	114	699						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGGACGAAGAGAGAGCCCAGA	0.627000													1	1	1	1	1	1	1.000000	31	83	0	127	0	0	0	1	0	127	5
TSPEAR	54084	broad.mit.edu	37	21	45949728	45949728	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:45949728G>T	ENST00000323084.4	-	5	808	c.743C>A	c.(742-744)gCt>gAt	p.A248D	TSPEAR_ENST00000397916.1_Missense_Mutation_p.A180D	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	15	42	0	66	248					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCCCGTGAGAGCCTGCAGGAC	0.642000													1	1	1	1	1	1	0.999972	16	48	0	73	0	0	0	0	0	73	5
COL6A2	0	broad.mit.edu	37	21	47536586	47536586	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47536586C>T	ENST00000300527.4	+	9	1053	c.949C>T	c.(949-951)Cgc>Tgc	p.R317C	COL6A2_ENST00000310645.5_Missense_Mutation_p.R317C|COL6A2_ENST00000397763.1_Missense_Mutation_p.R317C|COL6A2_ENST00000357838.4_Missense_Mutation_p.R317C|COL6A2_ENST00000409416.1_Missense_Mutation_p.R317C	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	15	31	0	47	317	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGCCGACGGTCGCAAGGTAGG	0.622000													1	1	1	1	1	1	0.999980	16	33	0	49	1	1	270	624	0	49	5
COL6A2	0	broad.mit.edu	37	21	47545863	47545863	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47545863G>A	ENST00000300527.4	+	26	2238	c.2134G>A	c.(2134-2136)Gac>Aac	p.D712N	COL6A2_ENST00000310645.5_Missense_Mutation_p.D712N|COL6A2_ENST00000397763.1_Missense_Mutation_p.D712N|COL6A2_ENST00000357838.4_Missense_Mutation_p.D712N|COL6A2_ENST00000409416.1_Missense_Mutation_p.D712N	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	33	49	0	75	712	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GTTTGCCTACGACCGCCTCAT	0.617000													1	1	0	1	1	1	1.000000	34	54	0	83	1	1	452	845	0	83	4
MCM3AP	8888	broad.mit.edu	37	21	47674319	47674319	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47674319C>T	ENST00000397708.1	-	20	4377	c.4123G>A	c.(4123-4125)Gag>Aag	p.E1375K	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1375K|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	22	50	0	80	1375					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCACAACTCTCTGGGGACTGC	0.612000													1	1	1	1	1	1	1.000000	29	61	0	94	1	1	48	51	0	94	5
MCM3AP	8888	broad.mit.edu	37	21	47705107	47705107	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47705107G>A	ENST00000397708.1	-	2	348	c.94C>T	c.(94-96)Cga>Tga	p.R32*	MCM3AP_ENST00000291688.1_Nonsense_Mutation_p.R32*			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	20	47	0	77	32					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGACCAAATCGAAATGGCGGC	0.463000													1	1	1	1	1	1	1.000000	22	49	0	82	1	9.822591e-01	12	6	0	82	5
PCNT	5116	broad.mit.edu	37	21	47773050	47773050	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr21:47773050C>T	ENST00000359568.5	+	10	1596	c.1489C>T	c.(1489-1491)Cgt>Tgt	p.R497C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	19	39	0	57	497	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GCGCACCTCTCGTGTGGAAGA	0.488000													1	0	1	1	1	1	0.999999	20	42	0	69	1	8.317911e-01	4	5	0	69	4
SLC25A18	83733	broad.mit.edu	37	22	18064149	18064149	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:18064149C>T	ENST00000327451.5	+	5	707	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Missense_Mutation_p.R57W|AC004019.13_ENST00000443935.1_RNA	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	45	98	0	172	57						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GAAGACGGCTCGGGCGGAGGG	0.652000													1	1	1	1	1	1	1.000000	49	109	0	208	0	0	0	0	0	208	5
CLTCL1	8218	broad.mit.edu	37	22	19203720	19203720	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19203720G>A	ENST00000263200.10	-	19	3038	c.2966C>T	c.(2965-2967)tCg>tTg	p.S989L	CLTCL1_ENST00000427926.1_Missense_Mutation_p.S989L|CLTCL1_ENST00000353891.5_Missense_Mutation_p.S989L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	25	28	1	43	989	Heavy chain arm.|Proximal segment.				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			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GACAGTGACCGAAATCTCTTC	0.423000			T	?	ALCL								1	0	1	1	0	1	0.999996	26	29	1	47	0	0	1	0	1	47	3
CLTCL1	8218	broad.mit.edu	37	22	19241726	19241726	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19241726T>G	ENST00000263200.10	-	3	347	c.275A>C	c.(274-276)aAt>aCt	p.N92T	CLTCL1_ENST00000427926.1_Missense_Mutation_p.N92T|CLTCL1_ENST00000353891.5_Missense_Mutation_p.N92T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	14	18	0	23	92	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			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CATCTCAATATTAAAGATCTG	0.343000			T	?	ALCL								1	1	1	1	1	1	0.999974	15	20	0	31	0	1.934566e-01	0	2	0	31	5
MRPL40	64976	broad.mit.edu	37	22	19423164	19423164	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19423164G>A	ENST00000333130.3	+	4	953	c.300G>A	c.(298-300)gaG>gaA	p.E100E	MRPL40_ENST00000471259.1_3'UTR|HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	40	290	0	296	100					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TTTGCAGAGAGCGGCCTCAGG	0.507000													1	1	1	1	0	1	1.000000	42	327	0	340	1	1	33	238	0	340	4
TBX1	6899	broad.mit.edu	37	22	19751728	19751728	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:19751728C>T	ENST00000332710.4	+	5	692	c.563C>T	c.(562-564)gCc>gTc	p.A188V	TBX1_ENST00000329705.7_Missense_Mutation_p.A188V|TBX1_ENST00000359500.3_Missense_Mutation_p.A188V	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	25	54	0	60	188					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GCCGACCCTGCCACGCCAGGC	0.662000													1	1	1	1	1	1	1.000000	27	58	0	63	0	2.466803e-01	0	3	0	63	5
DGCR8	54487	broad.mit.edu	37	22	20074084	20074084	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:20074084G>A	ENST00000351989.3	+	2	1027	c.598G>A	c.(598-600)Gat>Aat	p.D200N	DGCR8_ENST00000407755.1_Missense_Mutation_p.D200N|DGCR8_ENST00000383024.2_Missense_Mutation_p.D200N	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	46	102	0	149	200	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TGCAGTGCTCGATGAGTTAGA	0.483000													1	1	1	1	1	1	1.000000	48	104	0	152	1	9.905009e-01	5	14	0	152	5
PI4KA	5297	broad.mit.edu	37	22	21072993	21072993	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21072993G>A	ENST00000255882.6	-	44	5320	c.5234C>T	c.(5233-5235)tCg>tTg	p.S1745L	PI4KA_ENST00000572273.1_Missense_Mutation_p.S1687L|PI4KA_ENST00000414196.3_Missense_Mutation_p.S497L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	41	70	0	92	1687	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity).				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-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)			GATGATAGCCGACACGTTGGT	0.483000													1	1	1	1	1	1	1.000000	46	81	0	106	1	1	33	64	0	106	5
AIFM3	150209	broad.mit.edu	37	22	21331227	21331227	+	Splice_Site	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21331227G>A	ENST00000399167.2	+	13	1458	c.1218_splice	c.e13+1	p.K406_splice	AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Splice_Site_p.K406_splice|AIFM3_ENST00000405089.1_Splice_Site_p.K412_splice|AIFM3_ENST00000333607.6_Splice_Site_p.K406_splice|AIFM3_ENST00000335375.5_Splice_Site_p.K394_splice|AIFM3_ENST00000399163.2_Splice_Site_p.K406_splice	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3	24	57	0	83											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	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)			AGGAGGGAAAGGTGGGCCCTT	0.607000													1	1	1	1	1	1	1.000000	27	60	0	88	0	0	0	0	0	88	5
LZTR1	8216	broad.mit.edu	37	22	21344752	21344752	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21344752C>A	ENST00000215739.8	+	8	1088	c.729C>A	c.(727-729)ttC>ttA	p.F243L	LZTR1_ENST00000389355.3_Missense_Mutation_p.F224L|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	34	67	0	97	243					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	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)			TGTTTGTATTCTCTGGGCAAA	0.567000													1	1	1	1	1	1	1.000000	35	71	0	100	1	9.999210e-01	14	20	0	100	5
SLC7A4	6545	broad.mit.edu	37	22	21385316	21385316	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:21385316C>A	ENST00000382932.2	-	2	853	c.786G>T	c.(784-786)caG>caT	p.Q262H	SLC7A4_ENST00000403586.1_Missense_Mutation_p.Q262H	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	20	34	0	46	262					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	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)	GCCGTGGGTTCTGGGCCTCCT	0.622000													1	1	1	1	1	1	1.000000	22	35	0	49	0	0	0	0	0	49	5
PPIL2	23759	broad.mit.edu	37	22	22024873	22024873	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22024873T>G	ENST00000406385.1	+	3	161	c.101T>G	c.(100-102)tTt>tGt	p.F34C	PPIL2_ENST00000398831.3_Missense_Mutation_p.F34C|PPIL2_ENST00000335025.7_Missense_Mutation_p.F34C|PPIL2_ENST00000492445.2_Missense_Mutation_p.F34C|PPIL2_ENST00000412327.1_Missense_Mutation_p.F34C|PPIL2_ENST00000456792.2_Missense_Mutation_p.F34C			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	20	35	0	66	34					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CAAACAAATTTTCGTCGTTTA	0.368000													1	1	1	1	1	1	1.000000	23	37	0	70	1	9.998831e-01	10	20	0	70	5
ZNF280A	129025	broad.mit.edu	37	22	22869151	22869151	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22869151C>A	ENST00000302097.3	-	2	1056	c.804G>T	c.(802-804)aaG>aaT	p.K268N		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	26	51	0	88	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	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)		GATTTTCTTTCTTGGGATCAA	0.428000													1	1	1	1	1	1	1.000000	29	52	0	91	0	1.333907e-01	0	2	0	91	5
ZNF280A	129025	broad.mit.edu	37	22	22869289	22869289	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:22869289A>G	ENST00000302097.3	-	2	918	c.666T>C	c.(664-666)aaT>aaC	p.N222N		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	30	60	0	95	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	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)		ATGTTACTCCATTCTGAACAT	0.438000													1	1	1	1	1	1	1.000000	34	64	0	100	1	1.247525e-01	2	0	0	100	5
AP000349.1	0	broad.mit.edu	37	22	24124645	24124645	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24124645C>T	ENST00000598975.1	-	2	573	c.574G>A	c.(574-576)Gat>Aat	p.D192N	MMP11_ENST00000215743.3_Silent_p.I436I						11	21	0	32																		CCTCTGAGATCGACGCTGCCT	0.677000													1	1	1	1	1	1	0.999660	12	22	0	35	1	1	3	737	0	35	5
DDTL	100037417	broad.mit.edu	37	22	24313580	24313580	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24313580C>A	ENST00000215770.5	+	3	404	c.390C>A	c.(388-390)ttC>ttA	p.F130L	DDT_ENST00000398344.4_3'UTR|DDT_ENST00000404092.1_3'UTR|DDT_ENST00000350608.3_3'UTR	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	24	42	0	70	130						cytoplasm	lyase activity			kidney(1)|urinary_tract(1)	2						AAGCTCTCTTCATTTATTTCA	0.473000													1	1	1	1	1	1	1.000000	25	44	0	79	1	1	57	29	0	79	5
GSTT2	2953	broad.mit.edu	37	22	24323182	24323182	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24323182G>A	ENST00000215780.5	+	2	206	c.156G>A	c.(154-156)ggG>ggA	p.G52G	GSTT2_ENST00000402588.3_Silent_p.G52G	NM_000854.3	NP_000845.1	P0CG30	GSTT2_HUMAN	glutathione S-transferase theta 2	27	90	1	160	52	GST N-terminal.					cytoplasm	glutathione transferase activity			lung(1)	1						ACAGCCTGGGGAAACTGCCGA	0.542000													1	0	1	1	0	1	0.999998	28	99	1	166	1	6.269479e-01	2	7	1	166	3
SUSD2	56241	broad.mit.edu	37	22	24579121	24579121	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24579121T>G	ENST00000358321.3	+	2	434	c.173T>G	c.(172-174)tTc>tGc	p.F58C		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	21	112	0	139	58	SMB.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						TGCTTGGATTTCCGGGACTTC	0.617000													1	1	1	1	1	1	0.999999	22	128	0	159	0	6.350100e-02	0	3	0	159	5
UPB1	51733	broad.mit.edu	37	22	24911222	24911222	+	Silent	SNP	C	C	T	rs143438140	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24911222C>T	ENST00000413389.2	+	6	2064	c.471C>T	c.(469-471)ttC>ttT	p.F157F	UPB1_ENST00000326010.5_Silent_p.F225F			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	47	83	0	119	225	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding	p.F225F(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					AGACGCAGTTCGGAAGGATCG	0.537000													1	1	1	1	1	1	1.000000	52	86	0	135	0	0	0	0	0	135	5
UPB1	51733	broad.mit.edu	37	22	24911325	24911325	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:24911325A>G	ENST00000413389.2	+	6	2167	c.574A>G	c.(574-576)Ata>Gta	p.I192V	UPB1_ENST00000326010.5_Missense_Mutation_p.I260V			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	34	64	0	81	260	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CTCGGCCACGATAGGAGCACT	0.612000													1	1	1	1	1	1	1.000000	35	72	0	89	0	0	0	1	0	89	5
PIWIL3	440822	broad.mit.edu	37	22	25150111	25150111	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:25150111C>T	ENST00000332271.5	-	8	1263	c.847G>A	c.(847-849)Gat>Aat	p.D283N	PIWIL3_ENST00000533313.1_Missense_Mutation_p.D174N|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D174N	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	17	32	0	46	283					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGCTCACATCGGCACAGAGG	0.408000													1	1	1	1	1	1	0.999996	18	32	0	50	0	0	0	0	0	50	5
PIWIL3	440822	broad.mit.edu	37	22	25152504	25152504	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:25152504A>G	ENST00000332271.5	-	5	940	c.524T>C	c.(523-525)aTa>aCa	p.I175T	PIWIL3_ENST00000533313.1_Missense_Mutation_p.I66T|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.I66T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	9	18	0	28	175					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCCATCAAATATATGGCGCTC	0.343000													1	1	1	1	1	1	0.996692	9	20	0	33	0	0	0	0	0	33	5
ADRBK2	157	broad.mit.edu	37	22	26000402	26000402	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26000402A>C	ENST00000324198.5	+	2	364	c.172A>C	c.(172-174)Att>Ctt	p.I58L		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	22	43	0	41	58	N-terminal.|RGS.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CTTTGACAAGATTTTCAATCA	0.378000													1	1	1	1	1	1	1.000000	25	50	0	50	1	6.489731e-01	3	3	0	50	5
MYO18B	84700	broad.mit.edu	37	22	26343735	26343735	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26343735G>A	ENST00000335473.7	+	36	5939	c.5689G>A	c.(5689-5691)Gat>Aat	p.D1897N	MYO18B_ENST00000536101.1_Missense_Mutation_p.D1897N|MYO18B_ENST00000407587.2_Missense_Mutation_p.D1898N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	22	30	0	52	1897	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAGCGCATCGATGAGGACCA	0.552000													1	1	1	1	1	1	1.000000	23	34	0	64	0	0	0	0	0	64	5
MYO18B	84700	broad.mit.edu	37	22	26400763	26400763	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26400763G>T	ENST00000335473.7	+	42	6662	c.6412G>T	c.(6412-6414)Gat>Tat	p.D2138Y	MYO18B_ENST00000536101.1_Missense_Mutation_p.D2138Y|MYO18B_ENST00000407587.2_Missense_Mutation_p.D2139Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	9	101	0	103	2138						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTGGCCACAGATACTATGAG	0.552000													1	1	1	1	0	1	0.997286	10	109	0	119	0	0	0	0	0	119	4
HPS4	89781	broad.mit.edu	37	22	26868837	26868837	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:26868837G>T	ENST00000398145.2	-	5	961	c.345C>A	c.(343-345)ttC>ttA	p.F115L	HPS4_ENST00000398141.1_Missense_Mutation_p.F110L|HPS4_ENST00000336873.5_Missense_Mutation_p.F115L|HPS4_ENST00000402105.3_Missense_Mutation_p.F110L	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	43	78	0	132	115					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						AAAAATTAAAGAATCCAACTA	0.463000									Hermansky-Pudlak syndrome				1	1	1	1	1	1	1.000000	49	86	0	155	1	9.996943e-01	12	14	0	155	5
CHEK2	11200	broad.mit.edu	37	22	29091232	29091232	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:29091232T>G	ENST00000544772.1	-	13	2033		c.e13-2		CHEK2_ENST00000382566.1_Splice_Site|CHEK2_ENST00000328354.6_Splice_Site|CHEK2_ENST00000405598.1_Splice_Site|CHEK2_ENST00000403642.1_Splice_Site|CHEK2_ENST00000382578.1_Splice_Site|CHEK2_ENST00000382580.2_Splice_Site|CHEK2_ENST00000402731.1_Splice_Site|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Splice_Site|CHEK2_ENST00000404276.1_Splice_Site	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	7	10	0	11						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)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCACTAAGGCTTAATATTGGT	0.388000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					0	1	1	1	0	1	0.988776	7	10	0	12	0	0	0	0	0	12	3
C22orf31	25770	broad.mit.edu	37	22	29454749	29454749	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:29454749T>G	ENST00000216071.4	-	3	905	c.854A>C	c.(853-855)aAg>aCg	p.K285T		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	6	88	0	87	285										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						GCTCTTTAACTTGGGCCATTT	0.483000													1	0	1	1	0	1	0.981812	7	98	0	103	0	0	0	0	0	103	3
THOC5	8563	broad.mit.edu	37	22	29915099	29915099	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:29915099A>C	ENST00000490103.1	-	15	1507	c.1385T>G	c.(1384-1386)aTt>aGt	p.I462S	CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.I462S|THOC5_ENST00000397872.1_Missense_Mutation_p.I462S|THOC5_ENST00000397873.2_Missense_Mutation_p.I462S	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	30	58	0	97	462					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			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGGTCAGCAATCACTGTTTG	0.582000													1	1	1	1	1	1	1.000000	32	62	0	101	1	1	33	40	0	101	5
DRG1	4733	broad.mit.edu	37	22	31829935	31829935	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:31829935T>C	ENST00000331457.4	+	9	1243	c.1082T>C	c.(1081-1083)gTc>gCc	p.V361A		NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	14	29	0	29	361					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						GATGAGGATGTCATTCAAATT	0.478000													1	1	1	1	1	1	0.999961	15	29	0	33	1	1	89	79	0	33	5
DEPDC5	9681	broad.mit.edu	37	22	32289731	32289731	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32289731C>T	ENST00000400246.1	+	39	4339	c.4197C>T	c.(4195-4197)ttC>ttT	p.F1399F	DEPDC5_ENST00000382111.2_Silent_p.F1399F|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382112.3_Silent_p.F1390F|DEPDC5_ENST00000539165.1_Silent_p.F216F|DEPDC5_ENST00000266091.3_Silent_p.F1377F|DEPDC5_ENST00000400249.2_Silent_p.F1368F|DEPDC5_ENST00000400248.1_Silent_p.F1368F|DEPDC5_ENST00000535622.1_Silent_p.F1299F			O75140	DEPD5_HUMAN	DEP domain containing 5	26	31	0	44	1368				L -> P (in Ref. 6; CAH18159).	intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGTACTCTTCGAGATGGTGA	0.483000													1	1	1	1	1	1	1.000000	26	33	0	46	1	9.979564e-01	5	12	0	46	5
SLC5A4	6527	broad.mit.edu	37	22	32651209	32651209	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32651209A>C	ENST00000266086.4	-	1	119	c.108T>G	c.(106-108)ttT>ttG	p.F36L	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	76	120	0	195	36					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCACCACCAGAAAATAGATGA	0.542000													1	1	1	1	1	1	1.000000	78	127	0	207	0	0	0	0	0	207	5
RFPL3	10738	broad.mit.edu	37	22	32754065	32754065	+	Silent	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32754065A>C	ENST00000249007.4	+	1	212	c.7A>C	c.(7-9)Agg>Cgg	p.R3R	RFPL3_ENST00000397468.1_Intron	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	29	64	0	102	3							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ATGCATGAAAAGGTTGTCACT	0.483000													1	1	1	1	1	1	1.000000	34	69	0	116	0	0	0	0	0	116	5
BPIFC	254240	broad.mit.edu	37	22	32811907	32811907	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32811907G>T	ENST00000397452.1	-	15	1506	c.1396C>A	c.(1396-1398)Ctt>Att	p.L466I	BPIFC_ENST00000432451.2_Missense_Mutation_p.L223I|BPIFC_ENST00000300399.3_Missense_Mutation_p.L466I|BPIFC_ENST00000534972.1_Missense_Mutation_p.L190I			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	12	13	0	13	466						extracellular region	lipopolysaccharide binding|phospholipid binding										CTTACCTCAAGAACTTCAATA	0.343000													0	1	1	1	1	1	0.999961	14	14	0	15	0	0	0	0	0	15	4
BPIFC	254240	broad.mit.edu	37	22	32831749	32831749	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32831749G>T	ENST00000397452.1	-	9	976	c.866C>A	c.(865-867)tCt>tAt	p.S289Y	BPIFC_ENST00000432451.2_Missense_Mutation_p.S103Y|BPIFC_ENST00000300399.3_Missense_Mutation_p.S289Y|BPIFC_ENST00000534972.1_Missense_Mutation_p.S13Y			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	12	55	0	70	289						extracellular region	lipopolysaccharide binding|phospholipid binding										AAAGGACGCAGATTTAAAGAA	0.488000													1	1	1	1	1	1	0.999404	12	58	0	75	0	0	0	0	0	75	5
FBXO7	25793	broad.mit.edu	37	22	32894360	32894360	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:32894360C>T	ENST00000266087.7	+	9	1739	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	FBXO7_ENST00000382058.3_Missense_Mutation_p.T392M|FBXO7_ENST00000397426.1_Missense_Mutation_p.T357M	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	34	75	0	122	471					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGGGGAGACGCCCAGCCAG	0.562000													1	1	1	1	1	1	1.000000	36	82	0	128	1	1	120	192	0	128	5
HMGXB4	10042	broad.mit.edu	37	22	35661203	35661203	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:35661203C>T	ENST00000216106.5	+	5	950	c.822C>T	c.(820-822)ttC>ttT	p.F274F	HMGXB4_ENST00000444518.2_Silent_p.F165F	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	23	47	0	58	274					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	p.F274F(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCCCAGTTCGCAGAGTCCC	0.522000													1	1	1	1	1	1	1.000000	23	48	0	60	1	9.964365e-01	6	17	0	60	5
MCM5	4174	broad.mit.edu	37	22	35815913	35815913	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:35815913G>T	ENST00000216122.4	+	14	1894	c.1740G>T	c.(1738-1740)gaG>gaT	p.E580D	MCM5_ENST00000382011.5_Missense_Mutation_p.E537D	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	23	60	0	111	580					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			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						AGGCTGCAGAGAAACTGAAGA	0.632000													1	1	1	1	1	1	1.000000	24	66	0	118	1	1	103	144	0	118	5
APOL5	80831	broad.mit.edu	37	22	36122895	36122895	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:36122895G>T	ENST00000249044.2	+	3	780	c.780G>T	c.(778-780)aaG>aaT	p.K260N		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	10	166	0	173	260					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						CTATGGTCAAGAATTTTGTGG	0.498000													1	1	1	1	0	1	0.997124	10	176	0	179	0	0	0	0	0	179	4
MYH9	4627	broad.mit.edu	37	22	36685180	36685180	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:36685180C>T	ENST00000216181.5	-	32	4738	c.4508G>A	c.(4507-4509)cGc>cAc	p.R1503H		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	18	41	0	51	1503					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			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CATCTCCGTGCGGAACTGCTT	0.637000			T	ALK	ALCL		Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome		Hereditary Macrothrombocytopenia, MYH9-associated				1	1	1	1	1	1	0.999998	19	42	0	61	1	1	191	358	0	61	5
TEX33	339669	broad.mit.edu	37	22	37397962	37397962	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:37397962C>T	ENST00000405091.2	-	4	656	c.405G>A	c.(403-405)acG>acA	p.T135T	TEX33_ENST00000381821.1_Silent_p.T135T|TEX33_ENST00000402860.3_Silent_p.T50T			O43247	EAN57_HUMAN	testis expressed 33	13	12	0	26	135																	CCTTCTGGTTCGTGGGCGTGC	0.622000													1	1	1	1	1	1	0.999965	14	13	0	29	0	0	0	0	0	29	5
SH3BP1	23616	broad.mit.edu	37	22	38039669	38039669	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:38039669G>T	ENST00000599616.1	+	5	300	c.300G>T	c.(298-300)aaG>aaT	p.K100N	SH3BP1_ENST00000336738.5_Missense_Mutation_p.K164N|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Missense_Mutation_p.K164N|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Missense_Mutation_p.K164N			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	9	51	0	68	164	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGGCAACCAAGAATTCAGGCA	0.587000											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	0.998828	11	54	0	76	1	9.889666e-01	7	35	0	76	5
MICALL1	85377	broad.mit.edu	37	22	38329085	38329085	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:38329085C>T	ENST00000215957.6	+	13	2400	c.2274C>T	c.(2272-2274)gtC>gtT	p.V758V	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	37	58	0	108	758						cytoplasm|cytoskeleton	protein binding|zinc ion binding	p.V758V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGGCTGATGTCGAGTATGAGC	0.632000													1	1	1	1	1	1	1.000000	40	66	0	124	1	1	40	37	0	124	5
CBX6	23466	broad.mit.edu	37	22	39262755	39262755	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:39262755G>A	ENST00000407418.3	-	5	821	c.698C>T	c.(697-699)gCg>gTg	p.A233V	CBX6_ENST00000216083.6_Missense_Mutation_p.A215V			O95503	CBX6_HUMAN	chromobox homolog 6	29	58	0	114	233					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					CTTGTACAGCGCAAAGGCGCC	0.682000													1	1	1	1	0	1	1.000000	36	73	0	138	1	9.890204e-01	12	6	0	138	4
APOBEC3F	200316	broad.mit.edu	37	22	39441500	39441500	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:39441500C>T	ENST00000308521.5	+	4	876	c.519C>T	c.(517-519)ttC>ttT	p.F173F	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	85	164	0	202	178					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			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GGTACAAATTCGATGACAATT	0.507000													1	1	1	1	1	1	1.000000	95	185	0	227	1	9.276148e-01	5	6	0	227	5
CACNA1I	8911	broad.mit.edu	37	22	40015325	40015325	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:40015325T>C	ENST00000336649.4	+	6	493	c.493T>C	c.(493-495)Tac>Cac	p.Y165H	CACNA1I_ENST00000404898.1_Missense_Mutation_p.Y165H|CACNA1I_ENST00000407673.1_Missense_Mutation_p.Y165H|CACNA1I_ENST00000400164.3_Missense_Mutation_p.Y165H|CACNA1I_ENST00000401624.1_Missense_Mutation_p.Y165H|CACNA1I_ENST00000402142.3_Missense_Mutation_p.Y165H			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	7	114	0	114	165					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GATGGTCGAGTACTCCCTGGA	0.642000													1	1	1	1	0	1	0.981529	7	124	0	130	0	0	0	0	0	130	4
ST13	6767	broad.mit.edu	37	22	41222622	41222622	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:41222622T>C	ENST00000216218.3	-	12	1511	c.1030A>G	c.(1030-1032)Aat>Gat	p.N344D		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	40	61	0	94	344	STI1.						protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TTTGACATATTTGCTGGGTTC	0.393000													1	1	1	1	1	1	1.000000	43	60	0	92	1	1	146	189	0	92	5
MEI1	150365	broad.mit.edu	37	22	42141899	42141899	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:42141899G>T	ENST00000401548.3	+	14	1589	c.1549G>T	c.(1549-1551)Gaa>Taa	p.E517*	MEI1_ENST00000540833.1_Nonsense_Mutation_p.E257*|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	10	43	0	53	517							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTTGGCTATAGAATTCCAGAG	0.502000													1	1	1	1	1	1	0.997766	10	46	0	60	0	0	0	0	0	60	5
SEPT3	55964	broad.mit.edu	37	22	42377819	42377819	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:42377819G>A	ENST00000396425.3	+	2	312	c.181G>A	c.(181-183)Gac>Aac	p.D61N	SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000328414.8_Missense_Mutation_p.D61N|SEPT3_ENST00000396426.3_Missense_Mutation_p.D61N|SEPT3_ENST00000291236.11_Intron|CTA-250D10.19_ENST00000424613.1_RNA	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	16	20	0	19	61					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						GACCGGTTTCGACTTCAACAT	0.567000													1	1	1	1	1	1	1.000000	20	23	0	24	0	4.511255e-01	0	3	0	24	5
WBP2NL	164684	broad.mit.edu	37	22	42415733	42415733	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:42415733T>C	ENST00000328823.9	+	3	270	c.239T>C	c.(238-240)aTg>aCg	p.M80T	WBP2NL_ENST00000543212.1_Missense_Mutation_p.M6T	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	7	119	0	110	80	GRAM.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TTTGATCTGATGACGAACCTC	0.408000													1	0	1	1	0	1	0.981468	7	133	0	120	0	0	0	0	0	120	3
PPARA	5465	broad.mit.edu	37	22	46627934	46627934	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:46627934C>T	ENST00000396000.2	+	7	1222	c.957C>T	c.(955-957)gcC>gcT	p.A319A	PPARA_ENST00000402126.1_Silent_p.A319A|PPARA_ENST00000262735.5_Silent_p.A319A|PPARA_ENST00000407236.1_Silent_p.A319A|PPARA_ENST00000434345.2_3'UTR			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	33	36	0	111	319	Ligand-binding.|Required for heterodimerization with RXRA.				fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|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|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CCATATTCGCCATGCTGTCTT	0.463000													1	1	1	1	1	1	1.000000	36	37	0	121	1	4.901299e-01	2	1	0	121	5
TBC1D22A	25771	broad.mit.edu	37	22	47287219	47287219	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:47287219G>T	ENST00000337137.4	+	6	932	c.766G>T	c.(766-768)Gaa>Taa	p.E256*	TBC1D22A_ENST00000406733.1_Nonsense_Mutation_p.E209*|TBC1D22A_ENST00000380995.1_Nonsense_Mutation_p.E209*|TBC1D22A_ENST00000355704.3_Nonsense_Mutation_p.E178*|TBC1D22A_ENST00000407381.3_Nonsense_Mutation_p.E197*	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	14	26	0	59	256	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		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)		AAAACAAAAAGAATATTTTGC	0.398000													1	1	1	1	1	1	0.999993	17	28	0	65	0	9.996121e-01	1	27	0	65	5
BRD1	23774	broad.mit.edu	37	22	50191483	50191483	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:50191483C>T	ENST00000216267.8	-	5	2554	c.2068G>A	c.(2068-2070)Gca>Aca	p.A690T	BRD1_ENST00000404034.1_Missense_Mutation_p.A690T|BRD1_ENST00000404760.1_Missense_Mutation_p.A690T|BRD1_ENST00000342989.5_Missense_Mutation_p.A285T|BRD1_ENST00000542442.1_Missense_Mutation_p.A378T|BRD1_ENST00000457780.2_Missense_Mutation_p.A690T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	17	13	0	45	690					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		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)		CGCCGCGGTGCCGCAGCAGGC	0.647000													1	1	1	1	1	1	1.000000	21	17	0	48	1	9.999266e-01	15	5	0	48	5
TUBGCP6	85378	broad.mit.edu	37	22	50664759	50664759	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:50664759G>A	ENST00000439308.2	-	8	2142	c.1650C>T	c.(1648-1650)ggC>ggT	p.G550G	TUBGCP6_ENST00000248846.5_Silent_p.G550G	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	14	12	0	30	550					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		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)		TCATGAACTCGCCATAAGCGT	0.607000													1	0	1	1	0	1	0.999965	14	13	0	33	1	9.882718e-01	8	2	0	33	3
CPT1B	1375	broad.mit.edu	37	22	51008020	51008020	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr22:51008020G>T	ENST00000360719.2	-	18	2357	c.2220C>A	c.(2218-2220)ttC>ttA	p.F740L	CPT1B_ENST00000405237.3_Missense_Mutation_p.F740L|CPT1B_ENST00000312108.7_Missense_Mutation_p.F740L|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Missense_Mutation_p.F740L|CPT1B_ENST00000440709.1_Missense_Mutation_p.F659L|CPT1B_ENST00000457250.1_Missense_Mutation_p.F706L|CPT1B_ENST00000434492.2_Missense_Mutation_p.F535L	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	23	18	0	56	740					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		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)		CTGAGCTTGAGAACTTGCTGG	0.562000													1	1	1	1	1	1	1.000000	24	20	0	65	1	9.999888e-01	22	2	0	65	5
CSF2RA	0	broad.mit.edu	37	X	1407680	1407680	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1407680C>A	ENST00000381524.3	+	6	558	c.372C>A	c.(370-372)ttC>ttA	p.F124L	CSF2RA_ENST00000355432.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000381509.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000417535.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000381529.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000432318.2_Missense_Mutation_p.F124L|CSF2RA_ENST00000381500.1_Missense_Mutation_p.F124L|CSF2RA_ENST00000361536.3_Missense_Mutation_p.F124L|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355805.2_Missense_Mutation_p.F124L			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	64	138	0	231	124						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)	CTCAGAATTTCTCCTGTTTCA	0.488000													1	1	1	1	1	1	1.000000	71	149	0	259	0	0	0	0	0	259	5
CSF2RA	0	broad.mit.edu	37	X	1428454	1428454	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1428454T>A	ENST00000355432.3	+	11	1255	c.1106T>A	c.(1105-1107)cTt>cAt	p.L369H	CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_3'UTR|CSF2RA_ENST00000381524.3_3'UTR|CSF2RA_ENST00000381529.3_3'UTR|CSF2RA_ENST00000432318.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000501036.2_3'UTR|CSF2RA_ENST00000355805.2_3'UTR	NM_172246.2	NP_758449.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	17	114	0	146	0						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)	GCTGTGAACCTTTATATCATT	0.502000													1	1	1	1	1	1	0.999976	17	122	0	158	0	0	0	1	0	158	5
IL3RA	3563	broad.mit.edu	37	X	1460715	1460715	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1460715G>A	ENST00000331035.4	+	2	406	c.57G>A	c.(55-57)acG>acA	p.T19T	IL3RA_ENST00000381469.2_Silent_p.T19T	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	39	113	0	163	19						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	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)	TCCTGCAAACGAAGGAAGGTA	0.587000													1	1	1	1	1	1	1.000000	44	122	0	191	0	7.290786e-02	0	2	0	191	5
IL3RA	3563	broad.mit.edu	37	X	1467357	1467357	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1467357A>G	ENST00000331035.4	+	4	566	c.217A>G	c.(217-219)Att>Gtt	p.I73V	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	94	166	0	237	73						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	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)	GTTTGGAGCAATTTCCTTATG	0.453000													1	1	1	1	1	1	1.000000	105	182	0	272	0	8.947270e-01	0	9	0	272	5
SLC25A6	293	broad.mit.edu	37	X	1506218	1506218	+	Silent	SNP	G	G	A	rs147482209	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1506218G>A	ENST00000381401.5	-	3	1407	c.693C>T	c.(691-693)ttC>ttT	p.F231F	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	28	76	0	147	231					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			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		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)	GCACCGTGTCGAAGGGGTAGG	0.682000													1	1	1	1	1	1	1.000000	29	84	0	163	1	1	1190	1235	0	163	5
P2RY8	286530	broad.mit.edu	37	X	1584447	1584447	+	Silent	SNP	G	G	A	rs144046178	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:1584447G>A	ENST00000381297.4	-	2	1215	c.1005C>T	c.(1003-1005)tcC>tcT	p.S335S		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	25	66	0	135	335						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				CACCGGCCTCGGAGCGCACGG	0.701000			T	CRLF2	B-ALL, Downs associated ALL								1	1	1	1	1	1	1.000000	26	69	0	152	0	0	0	0	0	152	5
ARSD	414	broad.mit.edu	37	X	2835914	2835914	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:2835914G>A	ENST00000381154.1	-	5	869	c.794C>T	c.(793-795)aCg>aTg	p.T265M	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	19	29	0	36	265						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		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)				GGGTTGCTCCGTGACGTCATG	0.493000													1	1	1	1	1	1	0.999999	19	30	0	38	1	9.998075e-01	13	16	0	38	5
ARSE	415	broad.mit.edu	37	X	2861177	2861177	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:2861177G>A	ENST00000545496.1	-	9	1421	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L	ARSE_ENST00000381134.3_Missense_Mutation_p.S352L|ARSE_ENST00000540563.1_Missense_Mutation_p.S307L			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	11	24	0	48	352					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		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)				GCCGTGATCCGACGTAAAATA	0.473000													1	1	1	1	1	1	0.999988	17	42	0	51	1	9.559556e-01	2	14	0	51	5
MXRA5	25878	broad.mit.edu	37	X	3238669	3238669	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:3238669T>G	ENST00000217939.6	-	5	5211	c.5057A>C	c.(5056-5058)aAg>aCg	p.K1686T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	82	141	0	223	1686						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCAGTAAACTTACTAGGAAT	0.438000													1	1	1	1	1	1	1.000000	93	151	0	243	1	9.999966e-01	29	6	0	243	5
MXRA5	25878	broad.mit.edu	37	X	3240878	3240878	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:3240878C>A	ENST00000217939.6	-	5	3002	c.2848G>T	c.(2848-2850)Gga>Tga	p.G950*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	35	52	0	61	950						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTGACGATCCAACATCTGCT	0.507000													1	1	1	1	1	1	1.000000	35	56	0	64	0	6.352916e-01	0	5	0	64	5
MXRA5	25878	broad.mit.edu	37	X	3242220	3242220	+	Silent	SNP	G	G	A	rs151156772		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:3242220G>A	ENST00000217939.6	-	5	1660	c.1506C>T	c.(1504-1506)aaC>aaT	p.N502N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	50	96	0	155	502	Ig-like C2-type 1.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGCTTTCACGTTGCAGCTCA	0.542000													1	1	1	1	1	1	1.000000	52	103	0	166	0	7.386002e-01	0	7	0	166	5
NLGN4X	57502	broad.mit.edu	37	X	5811614	5811614	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:5811614T>G	ENST00000381095.3	-	6	2322	c.1695A>C	c.(1693-1695)aaA>aaC	p.K565N	NLGN4X_ENST00000381093.2_Missense_Mutation_p.K585N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.K565N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.K565N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.K565N	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	38	91	0	116	565					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			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGAGCTGGTCTTTGGGATTAT	0.468000													1	1	1	1	1	1	1.000000	42	97	0	100	0	0	0	0	0	100	5
NLGN4X	57502	broad.mit.edu	37	X	5821807	5821807	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:5821807G>A	ENST00000381095.3	-	5	1539	c.912C>T	c.(910-912)gtC>gtT	p.V304V	NLGN4X_ENST00000381093.2_Silent_p.V324V|NLGN4X_ENST00000275857.6_Silent_p.V304V|NLGN4X_ENST00000381092.1_Silent_p.V304V|NLGN4X_ENST00000538097.1_Silent_p.V304V	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	48	84	0	113	304					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			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGTTGCAGCCGACCTTGTCTG	0.577000													1	1	1	1	1	1	1.000000	50	90	0	118	0	0	0	0	0	118	5
KAL1	3730	broad.mit.edu	37	X	8553380	8553380	+	Nonsense_Mutation	SNP	G	G	A	rs137852516		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:8553380G>A	ENST00000262648.3	-	6	933	c.784C>T	c.(784-786)Cga>Tga	p.R262*		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	28	37	0	71	262	Fibronectin type-III 1.		R -> P (in KAL1).		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			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GCAGCCACTCGAAACTGGTAC	0.512000													1	1	1	1	1	1	1.000000	31	37	0	76	0	0	0	0	0	76	5
GPR143	4935	broad.mit.edu	37	X	9709432	9709432	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:9709432A>G	ENST00000467482.1	-	7	977	c.831T>C	c.(829-831)aaT>aaC	p.N277N	GPR143_ENST00000380929.2_Silent_p.N297N			P51810	GP143_HUMAN	G protein-coupled receptor 143	6	12	0	25	277					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AAGAACCTCCATTGATATCTG	0.318000													1	0	1	1	1	1	0.974550	6	12	0	26	0	8.649948e-01	0	10	0	26	4
SHROOM2	357	broad.mit.edu	37	X	9862500	9862500	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:9862500C>A	ENST00000380913.3	+	4	642	c.552C>A	c.(550-552)ccC>ccA	p.P184P		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	23	44	0	65	184					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			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGGACCACCCCTCCAGTCGCC	0.622000													1	1	1	1	1	1	1.000000	23	47	0	69	0	2.562014e-01	0	3	0	69	5
CLCN4	0	broad.mit.edu	37	X	10174814	10174814	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:10174814G>T	ENST00000380833.4	+	8	1232	c.841G>T	c.(841-843)Gag>Tag	p.E281*	CLCN4_ENST00000380829.1_Nonsense_Mutation_p.E281*|CLCN4_ENST00000421085.2_Nonsense_Mutation_p.E187*	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	45	84	0	126	281		Mediates proton transfer from the protein to the inner aqueous phase.				early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAGTCTAGAAGAGGTGAGAAT	0.468000													1	1	1	1	1	1	1.000000	48	93	0	145	0	6.623128e-01	0	6	0	145	5
MID1	0	broad.mit.edu	37	X	10491182	10491182	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:10491182C>A	ENST00000317552.4	-	3	1106	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	MID1_ENST00000380780.1_Nonsense_Mutation_p.E236*|MID1_ENST00000380782.2_Nonsense_Mutation_p.E236*|MID1_ENST00000380785.1_Nonsense_Mutation_p.E236*|MID1_ENST00000380787.1_Nonsense_Mutation_p.E236*|MID1_ENST00000453318.2_Nonsense_Mutation_p.E236*|MID1_ENST00000380779.1_Nonsense_Mutation_p.E236*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	46	63	0	106	236					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			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTCTCCAGTTCTGTGTTCCTC	0.338000													1	1	1	1	1	1	1.000000	52	72	0	111	0	3.828564e-01	0	3	0	111	5
HCCS	3052	broad.mit.edu	37	X	11139034	11139034	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:11139034C>T	ENST00000321143.4	+	6	731	c.529C>T	c.(529-531)Cct>Tct	p.P177S	HCCS_ENST00000380763.3_Missense_Mutation_p.P177S|HCCS_ENST00000380762.4_Missense_Mutation_p.P177S|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	33	147	0	168	177					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						TAGAGAGTGTCCTTGTGGTCC	0.383000													1	0	1	1	1	1	1.000000	41	164	0	196	0	9.999974e-01	0	83	0	196	4
ARHGAP6	395	broad.mit.edu	37	X	11162029	11162029	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:11162029A>G	ENST00000380718.1	-	11	3119	c.2247T>C	c.(2245-2247)tgT>tgC	p.C749C	ARHGAP6_ENST00000303025.6_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000337414.4_Intron	NM_006125.2	NP_006116.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	119	244	1	363	0					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			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GAAGAGCCCCACACCATGCCA	0.522000											OREG0019666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	131	264	1	399	0	0	0	0	1	399	5
ARHGAP6	395	broad.mit.edu	37	X	11187706	11187706	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:11187706C>A	ENST00000337414.4	-	9	2600	c.1728G>T	c.(1726-1728)caG>caT	p.Q576H	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q373H|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q385H|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q576H|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q373H|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q608H|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q401H|ARHGAP6_ENST00000491514.1_5'UTR	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	17	63	0	85	576	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			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGGCTGAACTCTGAACTGAGA	0.473000													1	1	1	1	1	1	0.999983	17	67	0	89	0	0	0	0	0	89	5
TLR8	51311	broad.mit.edu	37	X	12938499	12938499	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:12938499T>C	ENST00000218032.6	+	2	1427	c.1340T>C	c.(1339-1341)tTt>tCt	p.F447S	TLR8_ENST00000311912.5_Missense_Mutation_p.F465S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	43	18	0	69	447					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			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTTCCTCTTTTCAACGTCAT	0.378000													1	1	1	1	1	1	1.000000	47	18	0	81	0	0	0	0	0	81	5
ATXN3L	92552	broad.mit.edu	37	X	13337045	13337045	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:13337045C>T	ENST00000380622.2	-	1	1473	c.1009G>A	c.(1009-1011)Gct>Act	p.A337T	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	37	38	0	111	337					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTGTCGACAGCGGCCTGTACT	0.393000													1	1	1	1	1	1	1.000000	41	42	0	124	0	0	0	0	0	124	5
ATXN3L	92552	broad.mit.edu	37	X	13337601	13337601	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:13337601G>T	ENST00000380622.2	-	1	917	c.453C>A	c.(451-453)ttC>ttA	p.F151L	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	17	17	0	58	151	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.F151L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ATCGAGCCAAGAAATTTGCAA	0.398000													1	1	1	1	0	1	0.999996	17	18	0	60	0	0	0	0	0	60	4
PIGA	5277	broad.mit.edu	37	X	15344081	15344081	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15344081C>A	ENST00000333590.4	-	3	887	c.803G>T	c.(802-804)aGa>aTa	p.R268I	PIGA_ENST00000482148.1_Intron|PIGA_ENST00000542278.1_Missense_Mutation_p.R34I|PIGA_ENST00000428964.1_5'UTR	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	33	78	0	102	268					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			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CAAAATGATTCTCTTTGGTCC	0.358000													1	1	1	1	1	1	1.000000	35	85	0	107	0	8.986526e-01	0	12	0	107	5
PIGA	5277	broad.mit.edu	37	X	15349745	15349745	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15349745G>A	ENST00000333590.4	-	2	392	c.308C>T	c.(307-309)gCc>gTc	p.A103V	PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000428964.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	42	91	0	164	103					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			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GAGGGTCGTGGCTGTAGACTG	0.458000													1	1	1	1	1	1	1.000000	46	102	0	176	0	2.319179e-01	0	2	0	176	5
PIGA	5277	broad.mit.edu	37	X	15350106	15350106	+	Translation_Start_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15350106C>A	ENST00000333590.4	-	0	31				PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000428964.1_De_novo_Start_InFrame	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	12	26	0	45						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			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					GAGATGTGTCCTCTATTACCT	0.408000													0	0	1	1	1	1	0.999615	12	26	0	45	0	8.171624e-01	0	9	0	45	3
BMX	660	broad.mit.edu	37	X	15549500	15549500	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15549500A>G	ENST00000357607.2	+	11	1177	c.989A>G	c.(988-990)tAc>tGc	p.Y330C	BMX_ENST00000348343.6_Missense_Mutation_p.Y330C|BMX_ENST00000342014.6_Missense_Mutation_p.Y330C			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	36	70	0	100	330	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			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GTGGGAATGTACACAGTGTCC	0.338000													1	1	1	1	1	1	1.000000	41	89	0	118	0	0	0	1	0	118	5
CA5B	11238	broad.mit.edu	37	X	15800776	15800776	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:15800776G>A	ENST00000318636.3	+	8	1079	c.943G>A	c.(943-945)Gca>Aca	p.A315T	CA5B_ENST00000454127.2_Missense_Mutation_p.A315T	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	18	59	0	66	315					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CACCAGCCAAGCAACCCCCTA	0.438000													1	1	1	1	1	1	0.999999	21	66	0	75	1	1.561921e-01	3	0	0	75	5
GRPR	2925	broad.mit.edu	37	X	16170395	16170395	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:16170395G>A	ENST00000380289.2	+	3	1180	c.782G>A	c.(781-783)cGa>cAa	p.R261Q		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	47	91	0	140	261					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					TCCCGGAAGCGACTTGCCAAG	0.517000													1	1	1	1	1	1	1.000000	50	99	0	152	0	0	0	0	0	152	5
REPS2	9185	broad.mit.edu	37	X	17153397	17153397	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:17153397C>A	ENST00000357277.3	+	16	1847	c.1676C>A	c.(1675-1677)tCt>tAt	p.S559Y	REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000380064.4_Missense_Mutation_p.S358Y|REPS2_ENST00000303843.7_Missense_Mutation_p.S558Y	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	99	181	0	254	559	Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					GTACTGTATTCTCAGCCACCA	0.423000													1	1	1	1	0	1	1.000000	101	191	0	268	0	8.713003e-01	0	9	0	268	4
NHS	4810	broad.mit.edu	37	X	17746280	17746280	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:17746280A>G	ENST00000380060.3	+	6	4329	c.3991A>G	c.(3991-3993)Aaa>Gaa	p.K1331E	NHS_ENST00000398097.3_Missense_Mutation_p.K1175E	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	38	86	0	106	1331						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCACCATGACAAAGTGCCTGG	0.393000													1	1	1	1	1	1	1.000000	44	93	0	120	0	1.063720e-01	0	2	0	120	5
SCML2	10389	broad.mit.edu	37	X	18260638	18260638	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18260638G>T	ENST00000251900.4	-	14	2054	c.1895C>A	c.(1894-1896)tCt>tAt	p.S632Y	SCML2_ENST00000398048.3_Intron	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	13	84	0	91	632	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTCATCCACAGACCAGGTTGA	0.458000													1	1	1	1	1	1	0.999828	14	88	0	92	0	0	0	1	0	92	5
CDKL5	6792	broad.mit.edu	37	X	18622738	18622738	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18622738C>A	ENST00000379989.3	+	13	1979	c.1694C>A	c.(1693-1695)tCt>tAt	p.S565Y	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.S565Y	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	13	154	0	150	565					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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ACCAGACATTCTAAGACGATG	0.502000													1	1	1	1	0	1	0.999600	13	159	0	155	0	6.896552e-03	0	2	0	155	4
CDKL5	6792	broad.mit.edu	37	X	18638065	18638065	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:18638065G>T	ENST00000379989.3	+	17	2640	c.2355G>T	c.(2353-2355)aaG>aaT	p.K785N	CDKL5_ENST00000463994.1_3'UTR|CDKL5_ENST00000379996.3_Missense_Mutation_p.K785N	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	7	8	0	14	785	Poly-Lys.				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			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CAATGAAAAAGAAAAAGAAGA	0.308000													0	1	1	1	1	1	0.989284	7	9	0	14	0	0	0	0	0	14	4
GPR64	10149	broad.mit.edu	37	X	19009003	19009003	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19009003T>C	ENST00000354791.3	-	28	3226	c.2985A>G	c.(2983-2985)ttA>ttG	p.L995L	GPR64_ENST00000357544.3_Silent_p.L981L|GPR64_ENST00000379869.3_Silent_p.L1011L|GPR64_ENST00000357991.3_Silent_p.L1008L|GPR64_ENST00000360279.4_Silent_p.L989L|GPR64_ENST00000340581.3_Silent_p.L892L|GPR64_ENST00000379878.3_Silent_p.L995L|GPR64_ENST00000379873.2_Silent_p.L960L|GPR64_ENST00000379876.1_Silent_p.L987L|GPR64_ENST00000356606.4_Silent_p.L997L			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	38	62	1	124	1011					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CAATAAAGTGTAAGCTTCCCC	0.398000													1	0	1	1	1	1	1.000000	40	69	1	150	0	1	0	509	1	150	4
GPR64	10149	broad.mit.edu	37	X	19032031	19032031	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19032031T>G	ENST00000354791.3	-	15	1065	c.824A>C	c.(823-825)aAt>aCt	p.N275T	GPR64_ENST00000357544.3_Missense_Mutation_p.N261T|GPR64_ENST00000379869.3_Missense_Mutation_p.N291T|GPR64_ENST00000357991.3_Missense_Mutation_p.N288T|GPR64_ENST00000360279.4_Missense_Mutation_p.N269T|GPR64_ENST00000340581.3_Missense_Mutation_p.N261T|GPR64_ENST00000379878.3_Missense_Mutation_p.N275T|GPR64_ENST00000379873.2_Missense_Mutation_p.N291T|GPR64_ENST00000379876.1_Missense_Mutation_p.N267T|GPR64_ENST00000356606.4_Missense_Mutation_p.N277T			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	75	114	0	164	291					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGAGGGAACATTGTGGGTCAC	0.557000													1	1	1	1	1	1	1.000000	80	122	0	183	1	1	188	0	0	183	5
MAP3K15	389840	broad.mit.edu	37	X	19379463	19379463	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19379463C>T	ENST00000338883.4	-	28	3850	c.3851G>A	c.(3850-3852)cGa>cAa	p.R1284Q	MAP3K15_ENST00000469203.2_Missense_Mutation_p.R1116Q|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R719Q|PDHA1_ENST00000540249.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000422285.2_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	10	22	0	24	1284							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTACCGTAGTCGAAGGTATCT	0.393000													1	1	1	1	1	1	0.999637	12	24	0	28	0	9.920221e-01	0	21	0	28	5
SH3KBP1	30011	broad.mit.edu	37	X	19560162	19560162	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19560162G>A	ENST00000397821.3	-	16	2063	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	SH3KBP1_ENST00000379716.1_Silent_p.F353F|SH3KBP1_ENST00000541422.1_Silent_p.F330F|SH3KBP1_ENST00000379698.4_Silent_p.F554F	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	23	104	1	141	591					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			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CTTCCGTGCCGAACAGAGACG	0.647000													1	0	1	1	1	1	0.999976	24	113	1	161	0	9.899307e-01	0	49	1	161	4
SH3KBP1	30011	broad.mit.edu	37	X	19725022	19725022	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19725022C>T	ENST00000397821.3	-	4	657	c.367G>A	c.(367-369)Gac>Aac	p.D123N	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.D123N|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.D86N	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	17	40	0	43	123	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			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCTATGATGTCGCCAACTTTC	0.572000													1	1	1	1	1	1	0.999998	19	40	0	47	0	9.741790e-01	0	16	0	47	5
CXorf23	256643	broad.mit.edu	37	X	19947913	19947913	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:19947913C>A	ENST00000379687.3	-	10	2042	c.2009G>T	c.(2008-2010)aGa>aTa	p.R670I	CXorf23_ENST00000466702.1_5'UTR|CXorf23_ENST00000356980.3_3'UTR|CXorf23_ENST00000379682.4_Missense_Mutation_p.R699I	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	37	72	0	101	699						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						CTTCTTTTTTCTCATTAATCT	0.323000													1	1	1	1	1	1	1.000000	38	75	0	106	0	0	1	0	0	106	5
MAP7D2	256714	broad.mit.edu	37	X	20043155	20043155	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:20043155C>T	ENST00000379651.3	-	9	1221	c.1203G>A	c.(1201-1203)gcG>gcA	p.A401A	MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000543767.1_Silent_p.A286A|MAP7D2_ENST00000379643.5_Silent_p.A442A|MAP7D2_ENST00000443379.3_Silent_p.A356A|MAP7D2_ENST00000452324.3_Silent_p.A349A	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	52	93	0	151	401										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CCAAGATCTTCGCAGCCTCTC	0.522000													1	1	1	1	1	1	1.000000	60	96	0	165	0	0	0	0	0	165	5
MAP7D2	256714	broad.mit.edu	37	X	20060638	20060638	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:20060638G>T	ENST00000379651.3	-	7	884	c.866C>A	c.(865-867)tCt>tAt	p.S289Y	MAP7D2_ENST00000543767.1_Missense_Mutation_p.S174Y|MAP7D2_ENST00000379643.5_Missense_Mutation_p.S330Y|MAP7D2_ENST00000443379.3_Missense_Mutation_p.S244Y|MAP7D2_ENST00000452324.3_Missense_Mutation_p.S237Y	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	84	147	1	225	289										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CACAGGAGAAGATGGTCTCTT	0.502000													1	0	1	1	1	1	1.000000	91	156	1	238	0	0	0	1	1	238	4
SMS	6611	broad.mit.edu	37	X	22003283	22003283	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:22003283G>A	ENST00000404933.2	+	9	1139	c.887G>A	c.(886-888)aGa>aAa	p.R296K	SMS_ENST00000415881.2_Missense_Mutation_p.R200K|SMS_ENST00000379404.1_Missense_Mutation_p.R243K	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	14	35	0	55	296					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	GAGTTTCTCAGACTGATTCTT	0.348000													1	1	1	1	1	1	0.999949	15	39	0	62	0	0	0	0	0	62	5
ZNF645	158506	broad.mit.edu	37	X	22291306	22291306	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:22291306C>A	ENST00000323684.1	+	1	242	c.198C>A	c.(196-198)atC>atA	p.I66I		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	29	56	0	74	66						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CTATTAAAATCTATGGGCGAA	0.383000													1	1	1	1	1	1	1.000000	29	57	0	77	0	0	0	0	0	77	5
PTCHD1	139411	broad.mit.edu	37	X	23397857	23397857	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:23397857T>C	ENST00000379361.4	+	2	1361	c.501T>C	c.(499-501)aaT>aaC	p.N167N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	27	132	0	146	167					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GGGCCACCAATCGGACCAATT	0.488000													1	1	1	1	1	1	1.000000	27	135	0	153	0	0	0	0	0	153	5
CXorf58	254158	broad.mit.edu	37	X	23953371	23953371	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:23953371G>A	ENST00000379211.3	+	7	1163	c.614G>A	c.(613-615)cGc>cAc	p.R205H		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	55	87	0	158	205										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AACAGCTGGCGCAAATTAAAT	0.418000													1	1	1	1	1	1	1.000000	60	91	0	170	0	0	0	0	0	170	5
KLHL15	80311	broad.mit.edu	37	X	24006621	24006621	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:24006621G>A	ENST00000328046.8	-	4	1487	c.1232C>T	c.(1231-1233)cCt>cTt	p.P411L		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	44	68	0	123	411										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						AACTGGATAAGGATCCACAAA	0.428000													1	1	1	1	1	1	1.000000	45	75	0	131	1	4.838713e-01	3	1	0	131	5
KLHL15	80311	broad.mit.edu	37	X	24024277	24024277	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:24024277C>A	ENST00000328046.8	-	3	789	c.534G>T	c.(532-534)gaG>gaT	p.E178D		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	44	76	0	128	178	BACK.									autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						ACATGAGCTTCTCAAAGCTCA	0.478000													1	1	1	1	1	1	1.000000	46	78	0	134	0	0	0	0	0	134	5
ZFX	7543	broad.mit.edu	37	X	24228960	24228960	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:24228960G>T	ENST00000379177.1	+	11	2312	c.1885G>T	c.(1885-1887)Gaa>Taa	p.E629*	ZFX_ENST00000379188.3_Nonsense_Mutation_p.E629*|ZFX_ENST00000338565.3_Nonsense_Mutation_p.E579*|ZFX_ENST00000539115.1_Nonsense_Mutation_p.E400*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.E629*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.E668*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	32	69	0	90	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TATCCACCAAGAAAGCAAAAC	0.418000													1	1	1	1	1	1	1.000000	34	73	0	102	1	8.697947e-01	7	3	0	102	5
IL1RAPL1	11141	broad.mit.edu	37	X	29414549	29414549	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:29414549C>A	ENST00000378993.1	+	4	1210	c.537C>A	c.(535-537)atC>atA	p.I179I	IL1RAPL1_ENST00000302196.4_Silent_p.I179I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	28	79	0	121	179	Ig-like C2-type 2.				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			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AACCTGAAATCCTTTGGTACA	0.378000													1	1	1	1	1	1	1.000000	32	91	0	139	0	0	0	0	0	139	5
IL1RAPL1	11141	broad.mit.edu	37	X	29938105	29938105	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:29938105C>A	ENST00000378993.1	+	8	1624	c.951C>A	c.(949-951)atC>atA	p.I317I	IL1RAPL1_ENST00000302196.4_Silent_p.I317I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	33	54	1	105	317	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			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AAGTTTCCATCTCATTAATTG	0.393000													1	0	1	1	1	1	1.000000	41	58	1	119	0	0	0	0	1	119	4
IL1RAPL1	11141	broad.mit.edu	37	X	29959904	29959904	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:29959904C>T	ENST00000378993.1	+	9	1867	c.1194C>T	c.(1192-1194)ctC>ctT	p.L398L	IL1RAPL1_ENST00000302196.4_Silent_p.L398L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	18	49	0	73	398					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			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CTGAAGAGCTCGATGGAGGTA	0.358000													1	1	1	1	1	1	0.999997	19	52	0	76	0	0	0	0	0	76	5
MAGEB3	4114	broad.mit.edu	37	X	30254099	30254099	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:30254099G>T	ENST00000361644.2	+	5	795	c.58G>T	c.(58-60)Ggt>Tgt	p.G20C	MAGEB3_ENST00000378986.1_Missense_Mutation_p.G20C	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	15	49	0	85	20										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GCAGACCCGGGGTCAGACCCA	0.517000													1	1	1	1	1	1	0.999969	16	54	0	101	0	0	0	0	0	101	5
GK	2710	broad.mit.edu	37	X	30709251	30709251	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:30709251C>A	ENST00000378943.3	+	5	528	c.349C>A	c.(349-351)Cta>Ata	p.L117I	GK_ENST00000378946.3_Missense_Mutation_p.L117I|GK_ENST00000378945.3_Missense_Mutation_p.L117I|GK_ENST00000427190.1_5'UTR	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	20	45	0	56	117					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						GTGGCTTGATCTAAGAACCCA	0.289000													1	1	1	1	1	1	1.000000	24	50	0	67	0	0	0	1	0	67	5
TAB3	257397	broad.mit.edu	37	X	30872825	30872825	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:30872825G>T	ENST00000378933.1	-	3	1134	c.957C>A	c.(955-957)atC>atA	p.I319I	TAB3_ENST00000378932.2_Silent_p.I319I|TAB3_ENST00000378930.3_Silent_p.I319I|TAB3_ENST00000288422.2_Silent_p.I319I	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	11	49	0	51	319	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			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GTGGCATAAAGATGTGGCCCA	0.493000													1	1	1	1	1	1	0.998851	11	51	0	51	0	3.149168e-01	0	6	0	51	5
FTHL17	53940	broad.mit.edu	37	X	31089558	31089558	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:31089558G>A	ENST00000359202.3	-	1	612	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	24	50	0	97	171					cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TGAGCTTGTCGAACAGGTACT	0.632000													1	1	1	1	1	1	1.000000	25	56	0	107	0	0	0	0	0	107	5
DMD	1756	broad.mit.edu	37	X	31947829	31947829	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:31947829T>G	ENST00000357033.4	-	47	7002	c.6796A>C	c.(6796-6798)Att>Ctt	p.I2266L	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.I2262L|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	32	56	0	102	2266					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			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		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)				TGTTTGAGAATTCCCTGGCGC	0.418000													1	1	1	1	1	1	1.000000	35	58	0	109	0	0	0	0	0	109	5
DMD	1756	broad.mit.edu	37	X	32404483	32404483	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:32404483C>A	ENST00000357033.4	-	33	4824	c.4618G>T	c.(4618-4620)Gaa>Taa	p.E1540*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E1536*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	35	67	0	124	1540	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			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		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)				TCATCAAGTTCTTTGGGATTT	0.398000													1	1	1	1	1	1	1.000000	38	69	0	132	0	2.942091e-01	0	3	0	132	5
DMD	1756	broad.mit.edu	37	X	32827713	32827713	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:32827713G>A	ENST00000357033.4	-	7	752	c.546C>T	c.(544-546)gaC>gaT	p.D182D	DMD_ENST00000378677.2_Silent_p.D178D|DMD_ENST00000288447.4_Silent_p.D174D	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	24	38	0	48	182	Actin-binding.|CH 2.				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			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		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)				CACTATTCCAGTCAAATAGGT	0.393000													1	1	1	1	1	1	1.000000	27	41	0	50	0	1.633803e-01	0	2	0	50	5
FAM47A	158724	broad.mit.edu	37	X	34148674	34148674	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:34148674C>A	ENST00000346193.3	-	1	1773	c.1722G>T	c.(1720-1722)aaG>aaT	p.K574N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	17	67	0	123	574										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATGCTCGAATCTTGGGAGGCT	0.512000													1	1	1	1	1	1	0.999982	17	70	0	127	0	0	0	0	0	127	5
CXorf22	170063	broad.mit.edu	37	X	35974224	35974224	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:35974224G>T	ENST00000297866.5	+	8	1387	c.1321G>T	c.(1321-1323)Gaa>Taa	p.E441*		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	23	50	0	67	441								p.E441K(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AAATCAATGCGAATTACTTCC	0.358000													1	1	1	1	1	1	1.000000	23	51	0	70	0	5.006186e-01	0	5	0	70	5
CXorf22	170063	broad.mit.edu	37	X	35984785	35984785	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:35984785C>T	ENST00000297866.5	+	9	1580	c.1514C>T	c.(1513-1515)tCg>tTg	p.S505L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	27	44	0	69	505								p.S505L(2)|p.S505W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CAATCTTTGTCGGTAAAATCT	0.368000													1	1	1	1	1	1	1.000000	27	46	0	72	0	4.768936e-01	0	4	0	72	5
CXorf22	170063	broad.mit.edu	37	X	35988963	35988963	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:35988963G>A	ENST00000297866.5	+	11	1959	c.1893G>A	c.(1891-1893)aaG>aaA	p.K631K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	5	16	0	10	631										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AACAGCAAAAGAAATTACATG	0.308000													0	0	1	0	1	1	0.972347	6	17	0	10	0	5.195402e-01	0	6	0	10	2
XK	7504	broad.mit.edu	37	X	37586899	37586899	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:37586899G>T	ENST00000378616.3	+	3	722	c.519G>T	c.(517-519)atG>atT	p.M173I	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	9	34	0	59	173					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GTCTCCTCATGACCATATCCC	0.498000													1	1	1	1	1	1	0.995807	9	37	0	68	0	1.178571e-01	1	2	0	68	5
SYTL5	94122	broad.mit.edu	37	X	37893260	37893260	+	Splice_Site	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:37893260A>T	ENST00000357972.5	+	2	664	c.119_splice	c.e2+1	p.R40_splice	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Splice_Site_p.R40_splice|SYTL5_ENST00000456733.2_Splice_Site_p.R40_splice			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	6	19	0	25	40	RabBD.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CAAGAGAATAAGGTAGTATTC	0.368000													1	1	1	1	1	1	0.993042	8	20	0	28	0	2.237903e-01	0	3	0	28	5
CXorf38	159013	broad.mit.edu	37	X	40498296	40498296	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:40498296C>T	ENST00000378426.1	-	2	676	c.79G>A	c.(79-81)Gat>Aat	p.D27N	CXorf38_ENST00000440784.2_Intron|CXorf38_ENST00000378421.1_Missense_Mutation_p.D27N|CXorf38_ENST00000327877.5_Missense_Mutation_p.D146N			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	18	35	0	60	146										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						ACGAAGTGATCGCAGGAGTTG	0.493000													1	1	1	1	1	1	0.999996	18	36	0	65	1	9.870745e-01	14	4	0	65	5
MED14	9282	broad.mit.edu	37	X	40586033	40586033	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:40586033A>G	ENST00000324817.1	-	3	431	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	10	29	0	41	105					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			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTATTAGCCCATTTCACTAAA	0.323000													1	0	1	1	1	1	0.999034	11	34	0	46	0	7.836115e-01	0	11	0	46	4
USP9X	8239	broad.mit.edu	37	X	41043781	41043781	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41043781G>A	ENST00000324545.7	+	23	4044	c.3411G>A	c.(3409-3411)ccG>ccA	p.P1137P	USP9X_ENST00000378308.2_Silent_p.P1137P	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	7	39	0	56	1137					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			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACTTCCTACCGAATGCAGATA	0.453000													1	1	1	1	1	1	0.983416	7	41	0	59	1	6.797771e-01	4	11	0	59	5
USP9X	8239	broad.mit.edu	37	X	41055931	41055931	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41055931T>G	ENST00000324545.7	+	28	4806	c.4173T>G	c.(4171-4173)atT>atG	p.I1391M	USP9X_ENST00000378308.2_Missense_Mutation_p.I1391M	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	18	19	0	29	1391					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			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATAGTAATATTAATGTACCCA	0.328000													1	1	1	1	1	1	0.999998	18	19	0	29	1	9.999748e-01	3	25	0	29	5
USP9X	8239	broad.mit.edu	37	X	41057954	41057954	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41057954A>C	ENST00000324545.7	+	30	5187	c.4554A>C	c.(4552-4554)caA>caC	p.Q1518H	USP9X_ENST00000378308.2_Missense_Mutation_p.Q1518H	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	22	26	0	22	1518					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			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATCTCAAACAAATAGTAGATT	0.343000													1	1	1	1	1	1	1.000000	24	31	0	22	1	9.999086e-01	2	24	0	22	5
GPR34	2857	broad.mit.edu	37	X	41555424	41555424	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41555424A>G	ENST00000378142.4	+	3	822	c.538A>G	c.(538-540)Atg>Gtg	p.M180V	CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378154.1_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.M180V|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	22	55	0	59	180						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TATAGTATGGATGCTTGCTCT	0.348000													1	1	1	1	1	1	1.000000	24	59	0	62	0	9.486049e-01	0	4	0	62	5
GPR34	2857	broad.mit.edu	37	X	41555868	41555868	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:41555868T>G	ENST00000378142.4	+	3	1266	c.982T>G	c.(982-984)Ttc>Gtc	p.F328V	CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378154.1_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.F328V|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	5	39	0	31	328						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AGTCATGTATTTCCTGATGTC	0.363000													0	0	1	0	1	1	0.940987	5	44	0	35	0	6.019192e-01	0	7	0	35	2
CHST7	56548	broad.mit.edu	37	X	46433855	46433855	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:46433855C>T	ENST00000276055.3	+	1	637	c.489C>T	c.(487-489)tgC>tgT	p.C163C		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	18	28	0	69	163					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)|endometrium(2)|kidney(1)|lung(2)	8						TCTTCCGCTGCGACTTCTCCG	0.701000													1	1	1	1	0	1	0.999998	19	33	0	73	0	6.021834e-01	0	5	0	73	4
UBA1	7317	broad.mit.edu	37	X	47060346	47060346	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47060346C>T	ENST00000335972.6	+	6	717	c.534C>T	c.(532-534)ttC>ttT	p.F178F	UBA1_ENST00000377351.4_Silent_p.F178F	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	6	13	0	17	178	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGGGTGAGTTCTGTCACAACC	0.632000													1	0	1	1	1	1	0.993814	8	15	0	21	1	1	48	295	0	21	4
ARAF	369	broad.mit.edu	37	X	47424688	47424688	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47424688A>G	ENST00000377045.4	+	6	690	c.496A>G	c.(496-498)Aga>Gga	p.R166G	ARAF_ENST00000377039.2_Missense_Mutation_p.R166G|ARAF_ENST00000290277.6_Missense_Mutation_p.R166G	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	9	67	0	120	166					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			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CGGAGGCTCCAGACAGCATGA	0.582000													1	1	1	1	1	1	0.995076	9	75	0	139	0	9.981240e-01	0	102	0	139	5
TIMP1	7076	broad.mit.edu	37	X	47444652	47444652	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47444652G>A	ENST00000456754.2	+	4	325	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	SYN1_ENST00000295987.7_Intron|SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000218388.4_Missense_Mutation_p.V84I|TIMP1_ENST00000377017.1_Missense_Mutation_p.V20I|TIMP1_ENST00000377018.2_Silent_p.S7S			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	5	33	0	44	84	NTR.				erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						CATCCGGTTCGTCTACACCCC	0.562000													1	1	1	1	1	1	0.941927	5	34	0	47	1	1	8	3014	0	47	5
UXT	8409	broad.mit.edu	37	X	47516992	47516992	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47516992T>G	ENST00000335890.2	-	3	416	c.263A>C	c.(262-264)aAc>aCc	p.N88T	UXT_ENST00000333119.3_Missense_Mutation_p.N76T	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	11	21	0	21	76					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AACGAAGAAGTTACAGCCCAA	0.498000													1	1	1	1	1	1	0.999849	13	22	0	21	1	1	549	36	0	21	5
UXT	8409	broad.mit.edu	37	X	47517203	47517203	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47517203C>A	ENST00000335890.2	-	2	347	c.194G>T	c.(193-195)aGa>aTa	p.R65I	UXT_ENST00000333119.3_Missense_Mutation_p.R53I	NM_153477.2	NP_705582.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	6	36	0	30	53					centrosome organization|mitochondrion transport along microtubule|protein folding	centrosome|nucleus|prefoldin complex	beta-tubulin binding|microtubule binding|unfolded protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AATGACATTTCTCAGTTGAAG	0.488000													1	0	1	1	1	1	0.968276	6	43	0	35	0	9.999998e-01	0	538	0	35	4
ZNF81	347344	broad.mit.edu	37	X	47775478	47775478	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47775478C>A	ENST00000376954.1	+	6	1801	c.1433C>A	c.(1432-1434)tCt>tAt	p.S478Y	ZNF81_ENST00000338637.7_Missense_Mutation_p.S478Y			P51508	ZNF81_HUMAN	zinc finger protein 81	22	45	0	56	478						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TGTGGGAAATCTTTCCCTTCT	0.438000													1	1	1	1	1	1	1.000000	23	47	0	57	0	0	0	0	0	57	5
ZNF81	347344	broad.mit.edu	37	X	47775514	47775514	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47775514G>T	ENST00000376954.1	+	6	1837	c.1469G>T	c.(1468-1470)aGa>aTa	p.R490I	ZNF81_ENST00000338637.7_Missense_Mutation_p.R490I			P51508	ZNF81_HUMAN	zinc finger protein 81	24	43	0	51	490						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R490I(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ATGCATAAGAGAATTCATACA	0.408000													1	1	1	1	1	1	1.000000	25	44	0	53	0	0	1	0	0	53	5
ZNF630	57232	broad.mit.edu	37	X	47918899	47918899	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47918899C>A	ENST00000276054.4	-	5	1494	c.560G>T	c.(559-561)aGg>aTg	p.R187M	ZNF630_ENST00000409324.3_Missense_Mutation_p.R311M|ZNF630_ENST00000442455.3_Missense_Mutation_p.R297M|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	23	12	0	36	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AGTATGAATCCTCTGATGCAC	0.418000													1	1	1	1	1	1	1.000000	23	14	0	36	0	0	0	0	0	36	5
ZNF630	57232	broad.mit.edu	37	X	47919053	47919053	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:47919053C>T	ENST00000276054.4	-	5	1340	c.406G>A	c.(406-408)Gag>Aag	p.E136K	ZNF630_ENST00000409324.3_Missense_Mutation_p.E260K|ZNF630_ENST00000442455.3_Missense_Mutation_p.E246K|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	32	14	0	60	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						TTGGGTTTCTCTCTGGCTTGA	0.378000													1	1	1	1	1	1	1.000000	33	17	0	67	0	0	0	0	0	67	5
SSX5	6758	broad.mit.edu	37	X	48054555	48054555	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48054555C>T	ENST00000311798.1	-	3	132	c.80G>A	c.(79-81)aGa>aAa	p.R27K	SSX5_ENST00000347757.1_Intron|SSX5_ENST00000376923.1_Intron	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	15	74	0	100	23	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						ACAGACTTGTCTCCAGGGATG	0.557000													1	1	1	1	1	1	0.999980	17	83	0	115	0	0	0	0	0	115	5
WAS	7454	broad.mit.edu	37	X	48542671	48542671	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48542671G>T	ENST00000376701.4	+	2	207		c.e2-1		WAS_ENST00000483750.1_Splice_Site	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	26	43	0	49						blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				TCCTCTCCCAGACGCTGGCCA	0.602000			Mis, N, F, S			lymphoma							1	1	1	1	1	1	1.000000	30	48	0	55	0	0	0	0	0	55	5
WAS	7454	broad.mit.edu	37	X	48542779	48542779	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48542779G>T	ENST00000376701.4	+	2	315	c.240G>T	c.(238-240)caG>caT	p.Q80H	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	21	26	0	32	80	WH1.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				ATAACCCCCAGAAGTCCTACT	0.592000			Mis, N, F, S			lymphoma							1	1	1	1	1	1	1.000000	22	26	0	34	0	9.779597e-01	0	11	0	34	5
WAS	7454	broad.mit.edu	37	X	48549533	48549533	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48549533G>T	ENST00000376701.4	+	12	1564	c.1489G>T	c.(1489-1491)Gat>Tat	p.D497Y		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	23	35	0	62	497	Asp/Glu-rich (acidic).				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				TGAAGATGAAGATGATGAATG	0.597000			Mis, N, F, S			lymphoma							1	1	1	1	1	1	1.000000	27	42	0	71	0	9.999747e-01	0	34	0	71	5
GLOD5	392465	broad.mit.edu	37	X	48624299	48624299	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48624299C>T	ENST00000303227.6	+	2	164	c.123C>T	c.(121-123)atC>atT	p.I41I	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2			glyoxalase domain containing 5	11	9	0	20											endometrium(1)|lung(2)	3						TTGACCACATCGTGATGACGG	0.463000													1	1	1	1	1	1	0.999615	11	10	0	20	0	0	1	0	0	20	5
HDAC6	10013	broad.mit.edu	37	X	48682971	48682971	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48682971G>T	ENST00000334136.5	+	29	3775	c.3597G>T	c.(3595-3597)aaG>aaT	p.K1199N	HDAC6_ENST00000444343.2_Missense_Mutation_p.K1213N|HDAC6_ENST00000376619.2_Missense_Mutation_p.K1199N			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	16	24	0	48	1199					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			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TAGATGTGAAGAACATCGCCC	0.592000													1	1	1	1	1	1	0.999999	19	24	0	56	0	1	0	94	0	56	5
GRIPAP1	56850	broad.mit.edu	37	X	48839393	48839393	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48839393C>T	ENST00000376423.4	-	16	1470	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E533K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E488K|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E502K|GRIPAP1_ENST00000473581.1_5'UTR	NM_207672.1	NP_997555.1	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	13	35	0	44	533						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CAACTCACCTCGGCTTCCTTC	0.557000													0	1	1	0	0	1	0.999898	14	35	0	48	0	9.999997e-01	0	96	0	48	2
TFE3	7030	broad.mit.edu	37	X	48891263	48891263	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:48891263C>A	ENST00000315869.7	-	7	1297	c.1038G>T	c.(1036-1038)caG>caT	p.Q346H	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	10	19	0	48	346					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		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TGTCTTTCTTCTGCCGTTCCT	0.557000			T	SFPQ, ASPSCR1, PRCC, NONO, CLTC	papillary renal, alveolar soft part sarcoma, renal								1	1	1	1	1	1	0.998374	10	22	0	53	0	9.999858e-01	0	65	0	53	5
PLP2	5355	broad.mit.edu	37	X	49029577	49029577	+	Silent	SNP	C	C	T	rs149039155		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49029577C>T	ENST00000376327.5	+	2	273	c.198C>T	c.(196-198)gtC>gtT	p.V66V	PLP2_ENST00000376322.3_Silent_p.V66V	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	15	34	0	64	66	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						TCTTTGTTGTCTACATGTGTG	0.512000													1	1	1	1	1	1	0.999980	16	34	0	67	1	1	2	1017	0	67	5
PRICKLE3	4007	broad.mit.edu	37	X	49032046	49032046	+	Silent	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49032046T>A	ENST00000376317.3	-	9	1918	c.1824A>T	c.(1822-1824)cgA>cgT	p.R608R	PRICKLE3_ENST00000538114.1_Silent_p.R432R|PRICKLE3_ENST00000536904.1_Silent_p.R527R|PRICKLE3_ENST00000540849.1_Silent_p.R540R	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	21	36	0	67	608							protein binding|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						AGTTCTTGTCTCGGGCCTGAC	0.622000													1	1	1	1	1	1	1.000000	22	39	0	70	0	9.995981e-01	0	27	0	70	5
CACNA1F	778	broad.mit.edu	37	X	49061728	49061728	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49061728C>A	ENST00000376265.2	-	48	5864	c.5803G>T	c.(5803-5805)Gag>Tag	p.E1935*	CACNA1F_ENST00000376251.1_Nonsense_Mutation_p.E1870*|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.E1924*	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	14	30	0	48	1935					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTGTCCATCTCATCCAGCGTC	0.592000													1	1	1	1	1	1	0.999956	15	33	0	50	0	0	0	1	0	50	5
CACNA1F	778	broad.mit.edu	37	X	49084859	49084859	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49084859G>A	ENST00000376265.2	-	7	929	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	CACNA1F_ENST00000376251.1_Missense_Mutation_p.R225C|CACNA1F_ENST00000323022.5_Missense_Mutation_p.R290C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	15	18	0	27	290					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTGCACGCACGCCCTGATCCC	0.617000													1	1	1	1	1	1	0.999990	16	19	0	29	0	2.176387e-01	0	2	0	29	5
AKAP4	8852	broad.mit.edu	37	X	49958138	49958138	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:49958138C>A	ENST00000376056.2	-	5	1349	c.1199G>T	c.(1198-1200)aGa>aTa	p.R400I	AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.R409I|AKAP4_ENST00000376064.3_Missense_Mutation_p.R400I|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	18	49	0	112	409					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GAACAGATTTCTCTTGACAGC	0.448000													1	1	1	1	1	1	0.999997	19	51	0	119	0	0	0	0	0	119	5
CCNB3	85417	broad.mit.edu	37	X	50053473	50053473	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50053473G>T	ENST00000376042.1	+	6	2602	c.2304G>T	c.(2302-2304)ttG>ttT	p.L768F	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.L768F			Q8WWL7	CCNB3_HUMAN	cyclin B3	6	15	0	23	768					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGTTGGCTTTGAATGAGACCA	0.458000													1	0	1	1	1	1	0.973097	6	15	0	24	0	0	0	0	0	24	4
SHROOM4	57477	broad.mit.edu	37	X	50339755	50339755	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50339755G>A	ENST00000376020.2	-	9	4447	c.4422C>T	c.(4420-4422)ctC>ctT	p.L1474L	SHROOM4_ENST00000289292.7_Silent_p.L1474L|SHROOM4_ENST00000460112.3_Silent_p.L1358L	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	14	36	0	44	1474	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GCTCTTCCCCGAGCTTGATCT	0.522000													1	1	1	1	1	1	0.999978	16	37	0	48	1	7.435736e-01	7	1	0	48	5
SHROOM4	57477	broad.mit.edu	37	X	50377889	50377889	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:50377889G>T	ENST00000376020.2	-	4	1209	c.1184C>A	c.(1183-1185)tCt>tAt	p.S395Y	SHROOM4_ENST00000289292.7_Missense_Mutation_p.S395Y|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S279Y	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	10	15	0	22	395					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCTGCCAAAAGAAGCCTTAGC	0.552000													1	1	1	1	1	1	0.998722	10	15	0	22	0	0	0	0	0	22	5
SSX7	280658	broad.mit.edu	37	X	52681946	52681946	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:52681946C>A	ENST00000298181.5	-	3	316	c.158G>T	c.(157-159)aGa>aTa	p.R53I		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	36	66	0	69	53	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					CTCATACTTTCTCTTCATATA	0.393000													1	1	1	1	1	1	1.000000	39	70	0	74	0	0	0	0	0	74	5
KDM5C	8242	broad.mit.edu	37	X	53254069	53254069	+	Translation_Start_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:53254069C>T	ENST00000452825.3	-	1	535	c.3G>A	c.(1-3)atG>atA	p.M1I	KDM5C_ENST00000375379.3_Start_Codon_SNP_p.M1I|KDM5C_ENST00000375383.3_Start_Codon_SNP_p.M1I|KDM5C_ENST00000404049.3_Start_Codon_SNP_p.M1I|KDM5C_ENST00000375401.3_Start_Codon_SNP_p.M1I	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	17	15	0	18	0					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			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ACCCCGGCTCCATGGTGGGCC	0.652000			N, F, S		clear cell renal carcinoma								1	1	1	1	0	1	0.999999	18	15	0	19	1	1	49	31	0	19	4
HUWE1	10075	broad.mit.edu	37	X	53562435	53562435	+	Missense_Mutation	SNP	G	G	A	rs121918527		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:53562435G>A	ENST00000342160.3	-	80	13016	c.12559C>T	c.(12559-12561)Cgt>Tgt	p.R4187C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4187C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	12	25	0	64	4187	HECT.		R -> C (in MRXS-Turner).		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			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTGAGGTCACGAACTTCACAA	0.438000													1	1	1	1	1	1	0.999615	12	26	0	66	1	1	310	29	0	66	5
WNK3	65267	broad.mit.edu	37	X	54277993	54277993	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54277993G>T	ENST00000354646.2	-	14	2933	c.2495C>A	c.(2494-2496)tCt>tAt	p.S832Y	WNK3_ENST00000375159.2_Missense_Mutation_p.S832Y|WNK3_ENST00000375169.3_Missense_Mutation_p.S832Y	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	11	21	0	33	832					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			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CACAGTAATAGAATCAACTCC	0.378000													1	1	1	1	1	1	0.999615	12	26	0	39	0	0	0	0	0	39	5
ITIH6	347365	broad.mit.edu	37	X	54785156	54785156	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54785156G>A	ENST00000218436.6	-	8	1380	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	19	37	0	52	451	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TCATATATGCGCCGGGCTATT	0.577000													1	1	1	1	1	1	1.000000	21	40	0	52	0	0	0	0	0	52	5
TRO	7216	broad.mit.edu	37	X	54953058	54953058	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54953058G>T	ENST00000173898.7	+	9	1812	c.1700_splice	c.e9+1	p.G567_splice	TRO_ENST00000399736.1_Splice_Site_p.G170_splice|TRO_ENST00000375022.4_Splice_Site_p.G567_splice|TRO_ENST00000420798.2_Splice_Site_p.G98_splice|TRO_ENST00000375041.2_Splice_Site_p.G170_splice|TRO_ENST00000319167.8_Splice_Site_p.G567_splice	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	46	104	0	186	567	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CTGCGCCCTGGGTATGACTGG	0.577000													1	1	1	1	1	1	1.000000	53	111	0	204	0	3.932514e-01	0	4	0	204	5
PFKFB1	5207	broad.mit.edu	37	X	54978379	54978379	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:54978379G>A	ENST00000375006.3	-	8	875	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Missense_Mutation_p.R204C	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	8	19	0	16	269	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			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCTCCGATGCGGCCTCTGATG	0.587000													1	1	1	1	1	1	0.993175	8	19	0	16	1	1.034483e-01	2	0	0	16	5
ALAS2	212	broad.mit.edu	37	X	55042056	55042056	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:55042056G>A	ENST00000330807.5	-	8	1260	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	ALAS2_ENST00000335854.4_Missense_Mutation_p.R338C|ALAS2_ENST00000396198.3_Missense_Mutation_p.R362C|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	34	41	0	81	375					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	p.R375C(1)|p.R362C(1)		central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	ATTCCATCACGCTCCCCAATC	0.522000													1	1	1	1	1	1	1.000000	36	45	0	84	0	0	0	0	0	84	5
PAGE2B	389860	broad.mit.edu	37	X	55102524	55102524	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:55102524A>G	ENST00000374971.1	+	2	102	c.50A>G	c.(49-51)gAc>gGc	p.D17G	PAGE2B_ENST00000374974.3_Missense_Mutation_p.D17G	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	14	33	0	66	17										lung(3)	3						AGAGGAAATGACCAAGAGTCT	0.343000													1	1	1	1	1	1	0.999977	16	39	0	74	0	0	0	0	0	74	5
MAGEH1	28986	broad.mit.edu	37	X	55479290	55479290	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:55479290C>A	ENST00000342972.1	+	1	753	c.483C>A	c.(481-483)ttC>ttA	p.F161L		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	43	80	0	136	161	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						AGTATGAGTTCTTCTGGGGGC	0.502000													1	1	1	1	1	1	1.000000	44	85	0	151	0	9.998663e-01	0	31	0	151	5
FAAH2	158584	broad.mit.edu	37	X	57407418	57407418	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:57407418T>G	ENST00000374900.4	+	7	1072	c.952T>G	c.(952-954)Tta>Gta	p.L318V		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	34	47	0	53	318						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AGGCTCATTTTTAATGTCCAA	0.294000										HNSCC(52;0.14)			1	1	1	1	1	1	1.000000	36	50	0	57	0	9.999617e-01	0	28	0	57	5
ZXDA	7789	broad.mit.edu	37	X	57935107	57935107	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:57935107G>T	ENST00000358697.4	-	1	1960	c.1748C>A	c.(1747-1749)tCt>tAt	p.S583Y		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	46	98	0	177	583	Required for transcriptional activation.				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			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GGGTGTAAGAGAATTTGCTGC	0.453000													1	1	1	1	1	1	1.000000	51	105	0	192	0	5.247140e-01	0	5	0	192	5
ARHGEF9	23229	broad.mit.edu	37	X	62893985	62893985	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:62893985T>G	ENST00000253401.6	-	6	1657	c.857A>C	c.(856-858)gAa>gCa	p.E286A	ARHGEF9_ENST00000437457.2_Missense_Mutation_p.E233A|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.E284A|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.E184A|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.E265A|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.E57A|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	9	58	0	71	286	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			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TCGCTTGCGTTCGTTGATCTG	0.458000													1	1	1	1	1	1	0.995288	9	59	0	77	0	6.595143e-01	0	16	0	77	5
MTMR8	55613	broad.mit.edu	37	X	63574754	63574754	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:63574754T>G	ENST00000374852.3	-	4	438	c.371A>C	c.(370-372)gAa>gCa	p.E124A	MTMR8_ENST00000453546.1_Missense_Mutation_p.E124A	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	13	28	0	39	124						nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCATCCACTTTCCCTCATCTC	0.393000													1	1	1	1	1	1	0.999808	13	29	0	40	0	0	0	0	0	40	5
LAS1L	81887	broad.mit.edu	37	X	64743516	64743516	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:64743516C>T	ENST00000374811.3	-	11	1412	c.1372G>A	c.(1372-1374)Gcc>Acc	p.A458T	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374804.5_Missense_Mutation_p.A399T|LAS1L_ENST00000374807.5_Missense_Mutation_p.A441T	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	6	11	0	19	458						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TCAAGGGAGGCGGAGCAGTTG	0.577000													1	0	1	1	1	1	0.975154	6	11	0	20	1	9.999857e-01	77	4	0	20	4
LAS1L	81887	broad.mit.edu	37	X	64743963	64743963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:64743963C>A	ENST00000374811.3	-	10	1313	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374804.5_Nonsense_Mutation_p.E366*|LAS1L_ENST00000374807.5_Nonsense_Mutation_p.E408*	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	10	21	0	50	425						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ACGATCAGTTCAACGGTCCAT	0.597000													1	1	1	1	1	1	0.999648	12	23	0	59	0	1	0	113	0	59	5
LAS1L	81887	broad.mit.edu	37	X	64751318	64751318	+	Splice_Site	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:64751318C>T	ENST00000374811.3	-	4	473	c.432_splice	c.e4-1	p.V145_splice	LAS1L_ENST00000312391.8_Splice_Site_p.V145_splice|LAS1L_ENST00000374804.5_Splice_Site_p.V103_splice|LAS1L_ENST00000374807.5_Splice_Site_p.V145_splice	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	9	96	0	108	145						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GGAATATTTACCTGATTACAG	0.443000													1	1	1	1	0	1	0.997289	10	108	0	116	0	9.660729e-01	0	66	0	116	4
EDA2R	60401	broad.mit.edu	37	X	65819454	65819454	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:65819454C>T	ENST00000374719.3	-	6	822	c.766G>A	c.(766-768)Gag>Aag	p.E256K	EDA2R_ENST00000451436.2_Missense_Mutation_p.E132K|EDA2R_ENST00000456230.2_Missense_Mutation_p.E256K|EDA2R_ENST00000450752.1_Missense_Mutation_p.E277K|EDA2R_ENST00000396050.1_Missense_Mutation_p.E256K|EDA2R_ENST00000253392.5_Missense_Mutation_p.E277K	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	5	13	0	21	256					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			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AGGTCCAGCTCTGTGCATTCG	0.572000													1	0	0	1	0	1	0.946083	5	16	0	22	0	0	0	0	0	22	2
OPHN1	4983	broad.mit.edu	37	X	67333047	67333047	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:67333047G>T	ENST00000355520.5	-	17	2037	c.1396C>A	c.(1396-1398)Cac>Aac	p.H466N	OPHN1_ENST00000540071.1_Missense_Mutation_p.H466N	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	7	22	0	43	466	Rho-GAP.				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			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						AGCTCTTTGTGAAGTCTATAG	0.363000													1	0	1	1	1	1	0.996475	9	23	0	46	0	9.243697e-02	0	2	0	46	4
OPHN1	4983	broad.mit.edu	37	X	67426472	67426472	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:67426472C>A	ENST00000355520.5	-	10	1517	c.876G>T	c.(874-876)gaG>gaT	p.E292D	OPHN1_ENST00000540071.1_Missense_Mutation_p.E292D	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	20	53	0	87	292	PH.				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			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGGTCTCTTTCTCATACTGGC	0.413000													1	1	1	1	1	1	0.999999	21	63	0	111	0	0	0	0	0	111	5
STARD8	9754	broad.mit.edu	37	X	67943867	67943867	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:67943867C>T	ENST00000252336.6	+	13	3230	c.2858C>T	c.(2857-2859)tCg>tTg	p.S953L	STARD8_ENST00000374599.3_Missense_Mutation_p.S1033L|STARD8_ENST00000374597.3_Missense_Mutation_p.S953L	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	22	39	0	87	953	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GTGCCAGAGTCGGGTGTGCGA	0.617000													1	1	1	1	1	1	1.000000	22	47	0	93	0	7.743461e-01	0	8	0	93	5
PJA1	64219	broad.mit.edu	37	X	68381328	68381328	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:68381328T>C	ENST00000361478.1	-	2	2131	c.1754A>G	c.(1753-1755)gAt>gGt	p.D585G	PJA1_ENST00000374571.4_Missense_Mutation_p.D530G|PJA1_ENST00000374584.3_Missense_Mutation_p.D397G|PJA1_ENST00000374583.1_Missense_Mutation_p.D585G	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	36	57	0	108	585							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TGCGCCATGATCTTCAGTGAC	0.562000													1	1	1	1	1	1	1.000000	37	60	0	117	0	1	1	108	0	117	5
IGBP1	3476	broad.mit.edu	37	X	69366640	69366640	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69366640G>A	ENST00000342206.6	+	3	1139	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	IGBP1_ENST00000356413.4_Missense_Mutation_p.E214K			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	14	35	0	42	214					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(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CATTGACCAGGAAATAAAGAT	0.408000													1	1	1	1	1	1	0.999951	15	37	0	46	0	9.992523e-01	0	36	0	46	5
PDZD11	51248	broad.mit.edu	37	X	69507613	69507613	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69507613T>C	ENST00000239666.4	-	5	428	c.296A>G	c.(295-297)gAt>gGt	p.D99G	PDZD11_ENST00000473667.1_5'UTR|PDZD11_ENST00000374454.1_Missense_Mutation_p.D99G	NM_016484.4	NP_057568.1	Q5EBL8	PDZ11_HUMAN	PDZ domain containing 11	23	46	0	80	99	PDZ.					basolateral plasma membrane|cytosol|extracellular region	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(3)|lung(3)	9						GAAATCCACATCATTCACAGC	0.473000													1	1	1	1	1	1	1.000000	24	55	0	94	1	9.999986e-01	54	6	0	94	5
GDPD2	54857	broad.mit.edu	37	X	69652184	69652184	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69652184G>T	ENST00000453994.2	+	14	1849	c.1488G>T	c.(1486-1488)gtG>gtT	p.V496V	GDPD2_ENST00000374382.3_Silent_p.V445V|GDPD2_ENST00000538649.1_Silent_p.V366V|GDPD2_ENST00000536730.1_Silent_p.V366V|GDPD2_ENST00000472623.1_3'UTR	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	42	89	0	156	445					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					ATGTCTCGGTGAACCTATTTG	0.537000													1	1	1	1	1	1	1.000000	47	92	0	167	0	0	0	0	0	167	5
TEX11	0	broad.mit.edu	37	X	69890345	69890345	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:69890345G>A	ENST00000395889.2	-	17	1462	c.1307C>T	c.(1306-1308)gCc>gTc	p.A436V	TEX11_ENST00000344304.3_Missense_Mutation_p.A436V|TEX11_ENST00000374333.2_Missense_Mutation_p.A421V|TEX11_ENST00000374320.2_Missense_Mutation_p.A111V	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	13	33	0	60	436							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CCATTGTAGGGCATCAGTGTA	0.378000													1	1	1	1	1	1	0.999764	13	39	0	70	0	0	0	0	0	70	5
MED12	9968	broad.mit.edu	37	X	70344099	70344099	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70344099A>C	ENST00000333646.6	+	13	2034	c.1835A>C	c.(1834-1836)aAc>aCc	p.N612T	MED12_ENST00000374080.3_Missense_Mutation_p.N612T|MED12_ENST00000374102.1_Missense_Mutation_p.N612T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	22	33	0	53	612					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			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTCTCCCACAACATGTATACT	0.537000			M, S		uterine leiomyoma		Opitz-Kaveggia Syndrome						1	1	1	1	1	1	1.000000	24	38	0	58	0	9.674705e-01	0	12	0	58	5
NLGN3	54413	broad.mit.edu	37	X	70375128	70375128	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70375128G>A	ENST00000374051.3	+	4	904	c.582G>A	c.(580-582)ggG>ggA	p.G194G	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Silent_p.G174G|NLGN3_ENST00000358741.3_Silent_p.G214G	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	29	55	0	101	214					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACATGGAAGGGACAGGCAACA	0.552000													1	1	1	1	1	1	1.000000	31	57	0	108	0	0	0	0	0	108	5
GJB1	2705	broad.mit.edu	37	X	70444064	70444064	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70444064C>T	ENST00000374022.3	+	2	602	c.507C>T	c.(505-507)gaC>gaT	p.D169D	GJB1_ENST00000361726.6_Silent_p.D169D|GJB1_ENST00000374029.1_Silent_p.D169D	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	5	24	0	26	169					cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					TCAAGTGCGACGTCTACCCCT	0.562000													1	0	1	1	1	1	0.943558	5	24	0	27	0	6.972803e-01	0	13	0	27	4
ZMYM3	9203	broad.mit.edu	37	X	70460939	70460939	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70460939G>A	ENST00000373998.1	-	25	4601	c.3904C>T	c.(3904-3906)Cgc>Tgc	p.R1302C	ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1314C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1224C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1314C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1316C	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	14	20	0	50	1314					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACATCGTTGCGAGTCCGGAGG	0.577000													1	1	1	1	1	1	0.999973	15	21	0	51	1	1	77	3	0	51	5
ZMYM3	9203	broad.mit.edu	37	X	70461091	70461091	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70461091G>T	ENST00000373998.1	-	24	4567	c.3870C>A	c.(3868-3870)ttC>ttA	p.F1290L	ZMYM3_ENST00000353904.2_Missense_Mutation_p.F1302L|ZMYM3_ENST00000373984.3_Missense_Mutation_p.F1212L|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1302L|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1304L	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	21	34	0	38	1302					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGAGAGATAGAATTCATAGA	0.517000													1	1	1	1	1	1	1.000000	23	40	0	47	1	1	67	3	0	47	5
ZMYM3	9203	broad.mit.edu	37	X	70470017	70470017	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70470017C>T	ENST00000373978.1	-	5	898	c.821G>A	c.(820-822)aGa>aAa	p.R274K	ZMYM3_ENST00000373982.1_Silent_p.Q372Q|ZMYM3_ENST00000373981.1_Silent_p.Q370Q|ZMYM3_ENST00000353904.2_Silent_p.Q370Q|ZMYM3_ENST00000373984.3_Silent_p.Q372Q|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Silent_p.Q370Q|ZMYM3_ENST00000373988.1_Silent_p.Q372Q|ZMYM3_ENST00000373998.1_Silent_p.Q370Q			Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	19	19	0	25	178					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGAACCAGTCTGCGCCACAA	0.577000													1	1	1	1	1	1	1.000000	21	21	0	28	1	9.999998e-01	37	3	0	28	5
OGT	8473	broad.mit.edu	37	X	70757899	70757899	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70757899G>A	ENST00000373719.3	+	3	656	c.439G>A	c.(439-441)Gtc>Atc	p.V147I	OGT_ENST00000373701.3_Missense_Mutation_p.V137I|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	13	21	0	37	147					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			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ACAAGCTTACGTCTCTGCTCT	0.428000													1	1	1	1	1	1	0.999971	15	22	0	40	1	9.699757e-01	11	1	0	40	5
OGT	8473	broad.mit.edu	37	X	70793483	70793483	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70793483C>T	ENST00000373719.3	+	22	3197	c.2980C>T	c.(2980-2982)Cgt>Tgt	p.R994C	OGT_ENST00000373701.3_Missense_Mutation_p.R984C	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	16	33	0	35	994					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	p.R994C(1)|p.R984C(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GAAGAAAGTTCGTGGCAAAGT	0.418000													1	1	1	1	1	1	0.999995	18	38	0	39	0	1	0	91	0	39	5
ACRC	93953	broad.mit.edu	37	X	70823530	70823530	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70823530G>T	ENST00000373695.1	+	7	940	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	ACRC_ENST00000373696.3_Missense_Mutation_p.D135Y			Q96QF7	ACRC_HUMAN	acidic repeat containing	86	161	1	301	135	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CAACGGTAATGATTTGGAAGT	0.463000													1	1	1	1	1	1	1.000000	91	170	1	320	0	0	0	0	1	320	5
ACRC	93953	broad.mit.edu	37	X	70832208	70832208	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70832208G>A	ENST00000373695.1	+	11	2291	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q	ACRC_ENST00000373696.3_Missense_Mutation_p.R585Q|ACRC_ENST00000471950.1_3'UTR			Q96QF7	ACRC_HUMAN	acidic repeat containing	7	11	0	11	585						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TTTCAAGACCGAATCCGGGAT	0.378000													0	0	1	1	0	1	0.988321	7	11	0	11	0	0	1	0	0	11	2
ACRC	93953	broad.mit.edu	37	X	70832407	70832407	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:70832407G>A	ENST00000373695.1	+	11	2490	c.1953G>A	c.(1951-1953)acG>acA	p.T651T	ACRC_ENST00000373696.3_Silent_p.T651T|ACRC_ENST00000471950.1_3'UTR			Q96QF7	ACRC_HUMAN	acidic repeat containing	13	14	0	26	651						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GATGCAAAACGAGGTAAGACT	0.458000													1	1	1	1	1	1	0.999983	15	15	0	28	0	0	1	0	0	28	5
NHSL2	340527	broad.mit.edu	37	X	71358707	71358707	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71358707G>A	ENST00000373677.1	+	2	1473	c.211G>A	c.(211-213)Gag>Aag	p.E71K	NHSL2_ENST00000540800.1_Missense_Mutation_p.E437K|NHSL2_ENST00000535692.1_Missense_Mutation_p.E71K|NHSL2_ENST00000510661.1_Missense_Mutation_p.E206K			F5H593	F5H593_HUMAN	NHS-like 2	14	28	0	38	437										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GGTTCCTAAGGAGGCTGCTAC	0.522000													1	1	1	1	1	1	0.999913	14	29	0	39	0	0	0	0	0	39	5
NHSL2	340527	broad.mit.edu	37	X	71359836	71359836	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71359836C>T	ENST00000373677.1	+	2	2602	c.1340C>T	c.(1339-1341)aCt>aTt	p.T447I	NHSL2_ENST00000540800.1_Missense_Mutation_p.T813I|NHSL2_ENST00000535692.1_Missense_Mutation_p.T447I|NHSL2_ENST00000510661.1_Missense_Mutation_p.T582I			F5H593	F5H593_HUMAN	NHS-like 2	9	19	0	34	813										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GCCCAGAAAACTAATCCCAAC	0.502000													1	1	1	1	1	1	0.998508	10	19	0	37	0	0	0	0	0	37	5
ERCC6L	54821	broad.mit.edu	37	X	71425104	71425104	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71425104C>A	ENST00000373657.1	-	3	3746	c.3144G>T	c.(3142-3144)gaG>gaT	p.E1048D	ERCC6L_ENST00000334463.3_Missense_Mutation_p.E1171D|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	34	41	0	68	1171					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CAAGAGAGGTCTCTTGAGCTA	0.488000													1	1	1	1	1	1	1.000000	36	42	0	71	0	9.993335e-01	0	18	0	71	5
ERCC6L	54821	broad.mit.edu	37	X	71425342	71425342	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71425342G>T	ENST00000373657.1	-	3	3508	c.2906C>A	c.(2905-2907)tCt>tAt	p.S969Y	ERCC6L_ENST00000334463.3_Missense_Mutation_p.S1092Y|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	21	54	0	77	1092					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AGAAGCCAGAGATCTTCTAGA	0.418000													1	1	1	1	1	1	1.000000	22	57	0	80	0	8.078329e-01	0	10	0	80	5
PHKA1	5255	broad.mit.edu	37	X	71802319	71802319	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:71802319G>T	ENST00000373545.3	-	31	3739	c.3301C>A	c.(3301-3303)Cat>Aat	p.H1101N	PHKA1_ENST00000373539.3_Missense_Mutation_p.H1160N|PHKA1_ENST00000339490.3_Missense_Mutation_p.H1130N|PHKA1_ENST00000541944.1_Missense_Mutation_p.H1071N|PHKA1_ENST00000373542.4_Missense_Mutation_p.H1143N			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	18	37	0	55	1143					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCGATGCTATGAATTTCAATA	0.448000													1	1	1	1	1	1	0.999995	18	41	0	62	0	9.565920e-01	0	15	0	62	5
NAP1L2	4674	broad.mit.edu	37	X	72433253	72433253	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:72433253C>T	ENST00000373517.3	-	1	1431	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	NAP1L2_ENST00000536638.1_Missense_Mutation_p.R217Q	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	25	41	0	64	359					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					AGTTACAGTTCGGATTGTTCC	0.373000													1	1	1	1	1	1	1.000000	25	45	0	67	0	0	0	1	0	67	5
NAP1L2	4674	broad.mit.edu	37	X	72433721	72433721	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:72433721T>A	ENST00000373517.3	-	1	963	c.608A>T	c.(607-609)tAt>tTt	p.Y203F	NAP1L2_ENST00000536638.1_Missense_Mutation_p.Y61F	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	31	35	0	55	203	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					ATAGTCCTCATAACCATCGTC	0.443000													1	1	1	1	1	1	1.000000	32	35	0	55	0	0	0	0	0	55	5
RLIM	51132	broad.mit.edu	37	X	73811355	73811355	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:73811355G>A	ENST00000332687.6	-	4	2013	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	RLIM_ENST00000349225.2_Missense_Mutation_p.R599C	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	37	47	0	93	599					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			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GATAACCAGCGATCGATGCAG	0.408000													1	1	1	1	1	1	1.000000	41	53	0	102	0	8.766109e-01	0	7	0	102	5
ABCB7	22	broad.mit.edu	37	X	74282175	74282175	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:74282175C>T	ENST00000253577.3	-	14	1950	c.1926G>A	c.(1924-1926)tcG>tcA	p.S642S	ABCB7_ENST00000373394.3_Silent_p.S641S|ABCB7_ENST00000339447.4_Silent_p.S601S	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	11	16	0	27	641	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CTTCAGTAATCGAATCTAACG	0.353000													1	1	1	1	1	1	0.999379	11	17	0	28	0	1	0	104	0	28	5
ABCB7	22	broad.mit.edu	37	X	74318853	74318853	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:74318853G>T	ENST00000253577.3	-	4	404	c.380C>A	c.(379-381)tCt>tAt	p.S127Y	ABCB7_ENST00000373394.3_Missense_Mutation_p.S126Y|ABCB7_ENST00000339447.4_Intron	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	18	36	0	53	126					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CCACACATAAGAAAGCATTGC	0.373000													1	1	1	1	1	1	0.999995	18	38	0	55	0	9.982853e-01	0	26	0	55	5
MAGEE1	57692	broad.mit.edu	37	X	75650001	75650001	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:75650001C>A	ENST00000361470.2	+	1	1956	c.1678C>A	c.(1678-1680)Ctg>Atg	p.L560M		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	12	26	0	28	560	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCTACATTCTGTTAAACAA	0.483000													1	1	1	1	1	1	0.999814	13	28	0	28	0	0	0	0	0	28	5
ATRX	546	broad.mit.edu	37	X	76813007	76813007	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:76813007G>T	ENST00000373344.5	-	30	6828	c.6614C>A	c.(6613-6615)aCt>aAt	p.T2205N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.T2167N	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	14	94	0	102	2205	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	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATAAAGTTCAGTAAGCTCATT	0.383000			Mis, F, N		Pancreatic neuroendocrine tumors, paediatric GBM		ATR-X (alpha thalassemia/mental retardation) syndrome						1	1	1	1	1	1	0.999912	15	95	0	108	0	7.982186e-01	0	21	0	108	5
ATRX	546	broad.mit.edu	37	X	76888737	76888737	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:76888737G>A	ENST00000373344.5	-	19	5306	c.5092C>T	c.(5092-5094)Cgg>Tgg	p.R1698W	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1660W	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	33	206	1	232	1698	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	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAAGTTTCCGACTCTTCACA	0.358000			Mis, F, N		Pancreatic neuroendocrine tumors, paediatric GBM		ATR-X (alpha thalassemia/mental retardation) syndrome						1	0	1	1	1	1	1.000000	36	232	1	243	0	3.546186e-01	0	9	1	243	4
ATRX	546	broad.mit.edu	37	X	76907620	76907620	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:76907620C>T	ENST00000373344.5	-	15	4755	c.4541G>A	c.(4540-4542)cGa>cAa	p.R1514Q	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1476Q	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	12	150	0	145	1514					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	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CAATTTTTCTCGCTCACGCTC	0.428000			Mis, F, N		Pancreatic neuroendocrine tumors, paediatric GBM		ATR-X (alpha thalassemia/mental retardation) syndrome						1	1	1	1	0	1	0.999895	15	161	0	156	0	8.536815e-03	0	2	0	156	4
LPAR4	2846	broad.mit.edu	37	X	78010799	78010799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:78010799C>T	ENST00000435339.2	+	2	838	c.433C>T	c.(433-435)Cga>Tga	p.R145*	LPAR4_ENST00000373301.2_Nonsense_Mutation_p.R145*	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	35	69	0	119	145						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CTATCCTTTTCGATCTCGTAC	0.463000													1	1	1	1	1	1	1.000000	35	72	0	121	0	0	0	1	0	121	5
P2RY10	0	broad.mit.edu	37	X	78216975	78216975	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:78216975G>T	ENST00000171757.2	+	4	1238	c.958G>T	c.(958-960)Ggc>Tgc	p.G320C	P2RY10_ENST00000544091.1_Missense_Mutation_p.G320C	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	6	105	0	163	320						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						ATCCCGCCATGGCAGTTCTGT	0.448000													1	1	1	1	0	1	0.998528	11	143	0	182	0	6.288801e-03	0	2	0	182	4
BRWD3	254065	broad.mit.edu	37	X	79932179	79932179	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79932179A>G	ENST00000373275.4	-	41	5554	c.5338T>C	c.(5338-5340)Tcc>Ccc	p.S1780P		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	18	22	0	31	1780										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCTGATCTGGATGTACCAAGA	0.348000													1	1	1	1	1	1	0.999997	18	25	0	32	0	9.918078e-01	0	15	0	32	5
BRWD3	254065	broad.mit.edu	37	X	79932799	79932799	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79932799C>A	ENST00000373275.4	-	41	4934	c.4718G>T	c.(4717-4719)aGa>aTa	p.R1573I	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	16	18	0	57	1573										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AAGTAGTTTTCTCTTGATTCC	0.368000													1	1	1	1	1	1	0.999995	17	21	0	60	0	9.990581e-01	0	20	0	60	5
BRWD3	254065	broad.mit.edu	37	X	79947407	79947407	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79947407T>C	ENST00000373275.4	-	30	3612	c.3396A>G	c.(3394-3396)aaA>aaG	p.K1132K	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	11	23	0	34	1132										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTTCCTGGGGTTTGTATAGCA	0.448000													1	1	1	1	1	1	0.999637	12	24	0	36	0	2.763158e-01	0	3	0	36	5
BRWD3	254065	broad.mit.edu	37	X	79951425	79951425	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79951425C>A	ENST00000373275.4	-	27	3349	c.3133G>T	c.(3133-3135)Gaa>Taa	p.E1045*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	6	15	0	22	1045										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CAGTTCCTTTCTTTGGCTTCA	0.308000													1	0	1	1	1	1	0.986371	7	17	0	23	0	5.767662e-01	0	6	0	23	4
BRWD3	254065	broad.mit.edu	37	X	79979252	79979252	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79979252C>T	ENST00000373275.4	-	16	1861	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	16	24	0	40	549										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ctaacctttTCGTAGTATTTA	0.343000													1	1	1	1	1	1	0.999997	18	27	0	42	0	3.609422e-01	0	3	0	42	5
BRWD3	254065	broad.mit.edu	37	X	79980449	79980449	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:79980449G>A	ENST00000373275.4	-	15	1720	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	13	29	0	49	502										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AAGTAATTCCGAATTTTGGTC	0.368000													1	1	1	1	1	1	0.999960	15	30	0	55	0	6.491934e-01	0	6	0	55	5
POU3F4	5456	broad.mit.edu	37	X	82763427	82763427	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:82763427G>A	ENST00000373200.2	+	1	159	c.95G>A	c.(94-96)cGc>cAc	p.R32H	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	18	23	0	52	32					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGTCCTTTCCGCAACCCTCAG	0.597000													1	1	1	1	0	1	0.999997	18	25	0	55	0	0	0	0	0	55	4
POU3F4	5456	broad.mit.edu	37	X	82764037	82764037	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:82764037C>A	ENST00000373200.2	+	1	769	c.705C>A	c.(703-705)ttC>ttA	p.F235L	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	25	51	0	101	235	POU-specific.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TCTGCAGGTTCGAAGGCTTGC	0.562000													1	1	1	1	1	1	1.000000	32	53	0	113	0	0	0	0	0	113	5
CYLC1	1538	broad.mit.edu	37	X	83127903	83127903	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:83127903A>C	ENST00000329312.4	+	4	224	c.187A>C	c.(187-189)Aaa>Caa	p.K63Q		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	5	15	0	20	63					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAGACATGACAAAAGAAAACT	0.318000													1	0	1	1	1	1	0.973097	6	15	0	22	0	0	0	0	0	22	4
HDX	139324	broad.mit.edu	37	X	83730395	83730395	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:83730395C>T	ENST00000297977.5	-	2	122	c.11G>A	c.(10-12)cGt>cAt	p.R4H	HDX_ENST00000506585.2_Intron|HDX_ENST00000373177.2_Missense_Mutation_p.R4H	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	9	17	0	11	4						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R4H(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AAATACAGAACGTAGATTCAT	0.269000													0	0	1	0	0	1	0.996951	9	17	0	11	1	2.980296e-01	2	1	0	11	1
APOOL	139322	broad.mit.edu	37	X	84301495	84301495	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:84301495C>A	ENST00000373173.2	+	2	146	c.59C>A	c.(58-60)tCt>tAt	p.S20Y		NM_198450.5	NP_940852.3	Q6UXV4	APOOL_HUMAN	apolipoprotein O-like	10	25	0	46	20						extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATATATGCATCTGTAAGTGTA	0.358000													1	1	1	1	1	1	0.999799	13	31	0	56	0	3.574732e-01	0	4	0	56	5
POF1B	79983	broad.mit.edu	37	X	84563198	84563198	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:84563198G>A	ENST00000262753.4	-	10	1127	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F	POF1B_ENST00000373145.3_Missense_Mutation_p.L328F	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	11	28	0	31	328							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACTAGTCGGAGTGACTTATCA	0.338000													1	1	1	1	1	1	0.999896	14	36	0	36	0	0	0	0	0	36	5
DACH2	117154	broad.mit.edu	37	X	85404080	85404080	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:85404080C>T	ENST00000373131.1	+	1	619	c.456C>T	c.(454-456)ttC>ttT	p.F152F	DACH2_ENST00000373125.4_Silent_p.F152F	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	15	35	0	52	152	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGAAAGACTTCGAAACTTTGT	0.577000													1	1	1	1	1	1	0.999978	16	37	0	53	0	0	0	0	0	53	5
DACH2	117154	broad.mit.edu	37	X	85969606	85969606	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:85969606T>C	ENST00000373131.1	+	5	1111	c.948T>C	c.(946-948)ccT>ccC	p.P316P	DACH2_ENST00000373125.4_Silent_p.P329P|DACH2_ENST00000508860.1_Silent_p.P162P|DACH2_ENST00000510272.1_Silent_p.P110P	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	17	93	0	130	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TCAGCTTACCTCCTGCATCAG	0.438000													1	0	1	1	1	1	0.999978	17	103	0	143	0	0	0	1	0	143	4
KLHL4	0	broad.mit.edu	37	X	86924355	86924355	+	Missense_Mutation	SNP	C	C	A	rs12013438		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:86924355C>A	ENST00000373114.4	+	11	2204	c.2124C>A	c.(2122-2124)ttC>ttA	p.F708L	KLHL4_ENST00000373119.4_3'UTR	NM_057162.2	NP_476503.1	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	21	32	0	79	0						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TACAAAACTTCTATACCACAC	0.438000													1	1	1	1	1	1	1.000000	22	34	0	90	0	0	0	0	0	90	5
CPXCR1	53336	broad.mit.edu	37	X	88009147	88009147	+	Silent	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:88009147T>C	ENST00000276127.4	+	3	991	c.732T>C	c.(730-732)atT>atC	p.I244I	CPXCR1_ENST00000373111.1_Silent_p.I244I	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	8	4	0	29	244						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						AGATACAAATTGAAAGTATTT	0.318000													1	1	1	1	1	1	0.997288	8	4	0	29	0	0	0	0	0	29	5
PABPC5	140886	broad.mit.edu	37	X	90690889	90690889	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:90690889G>T	ENST00000312600.3	+	2	527	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	7	75	0	70	105						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AAAGTCTGGAGTGGGAAATAT	0.413000													1	1	1	1	0	1	0.982149	7	77	0	72	0	0	0	0	0	72	4
PABPC5	140886	broad.mit.edu	37	X	90691338	90691338	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:90691338G>T	ENST00000312600.3	+	2	976	c.762G>T	c.(760-762)aaG>aaT	p.K254N	PABPC5_ENST00000373105.1_Missense_Mutation_p.K90N	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	10	73	0	103	254	RRM 3.					cytoplasm	nucleotide binding|RNA binding	p.K254K(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTGCCCAAAAGGCTGTGCTAG	0.463000													1	1	1	1	1	1	0.999327	12	83	0	121	0	0	0	0	0	121	5
NAP1L3	4675	broad.mit.edu	37	X	92927916	92927916	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:92927916G>T	ENST00000373079.3	-	1	651	c.388C>A	c.(388-390)Cat>Aat	p.H130N	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	10	21	0	43	130					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCAAGATCATGAATTGCTTTT	0.408000													1	0	1	1	1	1	0.998296	10	24	0	48	0	0	0	0	0	48	4
DIAPH2	1730	broad.mit.edu	37	X	96192338	96192338	+	Missense_Mutation	SNP	G	G	A	rs41300144		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:96192338G>A	ENST00000324765.8	+	11	1543	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	DIAPH2_ENST00000373061.3_Missense_Mutation_p.R399Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.R399Q|DIAPH2_ENST00000355827.4_Missense_Mutation_p.R399Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R395Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	9	28	0	39	399	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.R399Q(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AATGACATTCGAGCAGAAATG	0.338000													1	1	1	1	1	1	0.999063	11	32	0	45	0	4.007202e-01	0	5	0	45	5
PCDH19	57526	broad.mit.edu	37	X	99657837	99657837	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99657837G>T	ENST00000373034.4	-	3	3976	c.2301C>A	c.(2299-2301)taC>taA	p.Y767*	PCDH19_ENST00000255531.7_Nonsense_Mutation_p.Y720*|PCDH19_ENST00000420881.2_Nonsense_Mutation_p.Y720*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	13	18	0	39	767					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCCCATAGGAGTACTCAGCAA	0.438000													1	1	1	1	1	1	0.999943	14	19	0	40	0	5.670934e-01	0	4	0	40	5
PCDH19	57526	broad.mit.edu	37	X	99662932	99662932	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99662932C>T	ENST00000373034.4	-	1	2339	c.664G>A	c.(664-666)Gtt>Att	p.V222I	PCDH19_ENST00000255531.7_Missense_Mutation_p.V222I|PCDH19_ENST00000420881.2_Missense_Mutation_p.V222I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	56	99	0	216	222	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTAAGGCCAACGGTGCCCAGG	0.607000													1	1	1	1	1	1	1.000000	62	122	0	239	0	0	0	0	0	239	5
TNMD	64102	broad.mit.edu	37	X	99852524	99852524	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99852524C>A	ENST00000373031.4	+	5	664	c.447C>A	c.(445-447)ttC>ttA	p.F149L	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	20	33	0	56	149	BRICHOS.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						CCACAACTTTCTTTGAACAGT	0.378000													1	1	1	1	1	1	0.999999	20	37	0	60	0	0	0	0	0	60	5
SRPX2	27286	broad.mit.edu	37	X	99922392	99922392	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:99922392C>A	ENST00000373004.3	+	9	1511	c.1083C>A	c.(1081-1083)atC>atA	p.I361I		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	27	45	0	68	361					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						AAATGCAGATCTCTATGCTAC	0.448000													1	1	1	1	1	1	1.000000	32	49	0	76	0	9.999334e-01	0	29	0	76	5
CSTF2	1478	broad.mit.edu	37	X	100088308	100088308	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100088308G>A	ENST00000415585.2	+	12	1429	c.1407G>A	c.(1405-1407)gcG>gcA	p.A469A	CSTF2_ENST00000372972.2_Silent_p.A449A|CSTF2_ENST00000486615.1_Intron			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	9	15	0	45	449	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|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AGGCCCGAGCGATGGAGGCCC	0.622000													1	1	1	1	1	1	0.996951	9	17	0	48	1	9.999255e-01	45	4	0	48	5
NOX1	27035	broad.mit.edu	37	X	100099015	100099015	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100099015G>A	ENST00000372966.3	-	13	1826	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	NOX1_ENST00000217885.5_Missense_Mutation_p.R492C|NOX1_ENST00000372960.4_Missense_Mutation_p.R504C|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	9	16	0	23	541					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			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CAGCATTTGCGCAGGCTCTTT	0.423000													1	1	1	1	1	1	0.999883	13	17	0	26	0	0	0	0	0	26	5
XKRX	402415	broad.mit.edu	37	X	100183298	100183298	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100183298G>A	ENST00000328526.5	-	1	600	c.35C>T	c.(34-36)tCg>tTg	p.S12L	XKRX_ENST00000372956.2_5'UTR|XKRX_ENST00000468904.1_5'UTR	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	94	195	0	238	0						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						GTCCATTGTCGAGGTTCTTTC	0.498000													1	1	1	1	1	1	1.000000	101	213	0	270	1	1.048796e-01	2	0	0	270	5
CENPI	2491	broad.mit.edu	37	X	100387279	100387279	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100387279C>A	ENST00000372927.1	+	13	1665	c.1388C>A	c.(1387-1389)cCt>cAt	p.P463H	CENPI_ENST00000423383.1_Missense_Mutation_p.P463H|CENPI_ENST00000372926.1_Missense_Mutation_p.P463H|CENPI_ENST00000218507.5_Missense_Mutation_p.P463H	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	49	88	0	147	463					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AGCTGGATTCCTTTTAGTAGC	0.388000													1	1	1	1	1	1	1.000000	56	95	0	165	0	7.168068e-01	0	6	0	165	5
DRP2	1821	broad.mit.edu	37	X	100500053	100500053	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100500053C>T	ENST00000395209.3	+	10	1629	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S	DRP2_ENST00000541709.1_Missense_Mutation_p.P290S|DRP2_ENST00000538510.1_Missense_Mutation_p.P368S|DRP2_ENST00000402866.1_Missense_Mutation_p.P368S	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	83	168	0	325	368	WW.				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAATAAAGTTCCCTACTACAT	0.493000													1	1	1	1	1	1	1.000000	92	185	0	370	0	0	0	0	0	370	5
TAF7L	54457	broad.mit.edu	37	X	100530220	100530220	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100530220T>A	ENST00000372907.3	-	12	1345	c.1334A>T	c.(1333-1335)aAa>aTa	p.K445I	TAF7L_ENST00000372905.2_Missense_Mutation_p.K285I|TAF7L_ENST00000356784.1_Missense_Mutation_p.K359I|TAF7L_ENST00000324762.6_Missense_Mutation_p.K285I	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	74	112	0	160	445					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CTTCTCATTTTTTTGTTTTTC	0.333000													1	1	1	1	1	1	1.000000	84	125	0	176	0	0	0	0	0	176	5
TAF7L	54457	broad.mit.edu	37	X	100532613	100532613	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100532613C>T	ENST00000372907.3	-	9	941	c.930G>A	c.(928-930)aaG>aaA	p.K310K	TAF7L_ENST00000372905.2_Silent_p.K224K|TAF7L_ENST00000356784.1_Silent_p.K224K|TAF7L_ENST00000324762.6_Silent_p.K224K	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	60	140	0	310	310					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TATGACCCTGCTTGTGGCTGC	0.438000													1	1	1	1	1	1	1.000000	67	160	0	369	0	0	0	0	0	369	5
GLA	2717	broad.mit.edu	37	X	100653892	100653892	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:100653892T>G	ENST00000218516.3	-	5	703	c.682A>C	c.(682-684)Aat>Cat	p.N228H	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000493905.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	55	74	0	128	228					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			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	TCAGCAAAATTTCGCCAGTGA	0.398000													1	1	1	1	1	1	1.000000	61	78	0	143	0	1	0	87	0	143	5
ZMAT1	84460	broad.mit.edu	37	X	101139144	101139144	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101139144C>A	ENST00000372782.3	-	7	1302	c.1255G>T	c.(1255-1257)Gat>Tat	p.D419Y	ZMAT1_ENST00000540921.1_Missense_Mutation_p.D419Y|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.D248Y	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	17	210	1	280	248						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						ACAGAGCTATCTCCTATCTTT	0.403000													1	0	1	1	0	1	0.998930	18	231	1	313	0	6.007715e-03	1	1	1	313	3
ZMAT1	84460	broad.mit.edu	37	X	101139766	101139766	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101139766C>A	ENST00000372782.3	-	7	680	c.633G>T	c.(631-633)aaG>aaT	p.K211N	ZMAT1_ENST00000540921.1_Missense_Mutation_p.K211N|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.K40N	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	45	93	0	129	40						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCCTTGAATTCTTCACTAGAT	0.313000													1	1	1	1	1	1	1.000000	46	99	0	146	0	0	0	1	0	146	5
NXF2B	728343	broad.mit.edu	37	X	101623766	101623766	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101623766G>T	ENST00000457521.2	-	19	2467	c.596C>A	c.(595-597)tCt>tAt	p.S199Y	NXF2B_ENST00000372752.1_Missense_Mutation_p.S111Y|NXF2B_ENST00000412230.2_Missense_Mutation_p.S199Y|NXF2B_ENST00000372750.1_Missense_Mutation_p.S199Y|NXF2B_ENST00000372749.1_Missense_Mutation_p.S199Y					nuclear RNA export factor 2B	12	62	0	186											breast(1)|kidney(1)|lung(4)|ovary(1)	7						GGGCGCAGTAGAATGATTGAC	0.488000													0	0	1	1	0	1	0.999389	12	62	0	99	0	0	0	0	0	99	2
GPRASP1	9737	broad.mit.edu	37	X	101911592	101911592	+	Silent	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101911592C>A	ENST00000537097.1	+	6	3564	c.2751C>A	c.(2749-2751)gtC>gtA	p.V917V	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.V917V|GPRASP1_ENST00000361600.5_Silent_p.V917V|GPRASP1_ENST00000415986.1_Silent_p.V917V	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	33	92	0	156	917	Glu-rich.|OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAAAAGAAGTCAGTGAAGAAG	0.463000													1	1	1	1	1	1	1.000000	33	95	0	165	0	6.536471e-01	1	7	0	165	5
GPRASP1	9737	broad.mit.edu	37	X	101912218	101912218	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101912218G>A	ENST00000537097.1	+	6	4190	c.3377G>A	c.(3376-3378)cGa>cAa	p.R1126Q	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.R1126Q|GPRASP1_ENST00000361600.5_Missense_Mutation_p.R1126Q|GPRASP1_ENST00000415986.1_Missense_Mutation_p.R1126Q	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	52	76	0	161	1126	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAGGAAATTCGAGAGCATCTT	0.463000													1	1	1	1	1	1	1.000000	57	83	0	171	1	3.651302e-01	2	1	0	171	5
GPRASP2	114928	broad.mit.edu	37	X	101970234	101970234	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:101970234C>T	ENST00000543253.1	+	5	1356	c.437C>T	c.(436-438)tCc>tTc	p.S146F	GPRASP2_ENST00000332262.5_Missense_Mutation_p.S146F|GPRASP2_ENST00000535209.1_Missense_Mutation_p.S146F	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2	93	156	0	277											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAGGAGTGTCCCAGACTAAT	0.532000													1	1	1	1	1	1	1.000000	97	159	0	290	0	8.670695e-01	0	8	0	290	5
BHLHB9	80823	broad.mit.edu	37	X	102005204	102005204	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102005204G>T	ENST00000372735.1	+	4	1866	c.1281G>T	c.(1279-1281)aaG>aaT	p.K427N	BHLHB9_ENST00000448867.1_Missense_Mutation_p.K427N|BHLHB9_ENST00000361229.4_Missense_Mutation_p.K427N|BHLHB9_ENST00000447531.1_Missense_Mutation_p.K427N|BHLHB9_ENST00000457056.1_Missense_Mutation_p.K427N			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	23	60	0	86	427						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGGATTAAAGATACTAGGAC	0.378000													1	1	1	1	1	1	1.000000	24	65	0	93	0	0	0	1	0	93	5
TCEAL5	340543	broad.mit.edu	37	X	102529347	102529347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102529347C>A	ENST00000372680.1	-	3	439	c.145G>T	c.(145-147)Gaa>Taa	p.E49*		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	32	48	0	89	49	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						ccctcgcattctgtcttcccc	0.512000													1	1	1	1	0	1	1.000000	33	50	0	89	0	6.571404e-01	0	5	0	89	4
BEX2	84707	broad.mit.edu	37	X	102564538	102564538	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102564538C>A	ENST00000536889.1	-	3	820	c.463G>T	c.(463-465)Gag>Tag	p.E155*	BEX2_ENST00000372674.1_Nonsense_Mutation_p.E123*|BEX2_ENST00000372677.3_Nonsense_Mutation_p.E123*	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	67	98	0	185	123					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						AGGCAAAACTCATCGTGATGG	0.483000													1	1	1	1	1	1	1.000000	72	105	0	203	0	9.962595e-01	1	15	0	203	5
MORF4L2	9643	broad.mit.edu	37	X	102931709	102931709	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102931709G>T	ENST00000423833.2	-	3	1472	c.247C>A	c.(247-249)Cct>Act	p.P83T	MORF4L2_ENST00000451301.1_Missense_Mutation_p.P83T|MORF4L2_ENST00000360458.1_Missense_Mutation_p.P83T|MORF4L2_ENST00000433176.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000441076.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000422154.2_Missense_Mutation_p.P83T|MORF4L2_ENST00000492116.1_5'UTR			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	43	80	0	105	83					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CCGTTTCCAGGAGTCTTCTGC	0.562000													1	1	1	1	1	1	1.000000	46	84	0	115	0	1	0	426	0	115	5
TMEM31	203562	broad.mit.edu	37	X	102968693	102968693	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:102968693G>A	ENST00000319560.6	+	3	465	c.274G>A	c.(274-276)Gag>Aag	p.E92K	GLRA4_ENST00000372617.4_Intron	NM_182541.2	NP_872347.2	Q5JXX7	TMM31_HUMAN	transmembrane protein 31	10	101	0	149	92						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						TGCTCTTTTTGAGCTTTATCC	0.453000													1	1	1	1	0	1	0.998592	11	110	0	160	0	1.022817e-02	1	1	0	160	4
PLP1	5354	broad.mit.edu	37	X	103040584	103040584	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103040584C>A	ENST00000418604.1	+	3	358	c.78C>A	c.(76-78)ttC>ttA	p.F26L	PLP1_ENST00000303958.2_Missense_Mutation_p.F26L|PLP1_ENST00000361621.2_Missense_Mutation_p.F26L	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	84	157	0	280	26					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GATTGTGTTTCTTTGGGGTGG	0.502000													1	1	1	1	1	1	1.000000	93	166	0	299	0	0	0	0	0	299	5
PLP1	5354	broad.mit.edu	37	X	103040636	103040636	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103040636G>A	ENST00000418604.1	+	3	410	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	PLP1_ENST00000303958.2_Missense_Mutation_p.E44K|PLP1_ENST00000361621.2_Missense_Mutation_p.E44K	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	60	124	0	218	44					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CACTGGCACAGAAAAGCTAAT	0.483000													1	1	1	1	1	1	1.000000	61	127	0	238	0	0	0	0	0	238	5
PLP1	5354	broad.mit.edu	37	X	103040659	103040659	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103040659C>A	ENST00000418604.1	+	3	433	c.153C>A	c.(151-153)ttC>ttA	p.F51L	PLP1_ENST00000303958.2_Missense_Mutation_p.F51L|PLP1_ENST00000361621.2_Missense_Mutation_p.F51L	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	58	103	0	166	51			F -> S (in HLD1).		cell death|synaptic transmission	integral to membrane		p.F51L(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGACCTATTTCTCCAAAAACT	0.478000													1	1	1	1	1	1	1.000000	60	112	0	184	0	0	0	0	0	184	5
H2BFM	286436	broad.mit.edu	37	X	103294803	103294803	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103294803C>T	ENST00000243297.5	+	3	569	c.569C>T	c.(568-570)tCt>tTt	p.S190F	H2BFM_ENST00000355016.3_Missense_Mutation_p.S87F					H2B histone family, member M	6	20	0	20											endometrium(1)|lung(1)|ovary(1)	3						GTCATGGATTCTATGATCCAT	0.602000													1	0	1	1	1	1	0.985528	7	21	0	20	0	0	0	0	0	20	4
FAM199X	139231	broad.mit.edu	37	X	103411476	103411476	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:103411476G>A	ENST00000493442.1	+	1	176	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	10	15	0	27	4										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CATGTCCGACGAGGCCTCGGC	0.692000													1	1	1	1	0	1	0.999759	12	15	0	32	0	9.970232e-01	0	18	0	32	4
IL1RAPL2	26280	broad.mit.edu	37	X	104478596	104478596	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:104478596A>C	ENST00000372582.1	+	4	1207	c.451A>C	c.(451-453)Aaa>Caa	p.K151Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.K151Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	31	59	0	98	151	Ig-like C2-type 2.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTATTTAGAAAAATCTGAAGT	0.418000													1	1	1	1	1	1	1.000000	31	60	0	100	0	0	1	0	0	100	5
NRK	203447	broad.mit.edu	37	X	105179175	105179175	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105179175C>T	ENST00000428173.2	+	21	3819	c.3516C>T	c.(3514-3516)ttC>ttT	p.F1172F	NRK_ENST00000243300.9_Silent_p.F1171F			Q7Z2Y5	NRK_HUMAN	Nik related kinase	28	65	0	84	1171							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACGCTGGATTCGTAGAAGTAC	0.373000										HNSCC(51;0.14)			1	1	1	1	1	1	1.000000	29	78	0	91	0	0	0	0	0	91	5
NRK	203447	broad.mit.edu	37	X	105190310	105190310	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105190310T>G	ENST00000428173.2	+	26	4513	c.4210T>G	c.(4210-4212)Ttt>Gtt	p.F1404V	NRK_ENST00000243300.9_Missense_Mutation_p.F1403V			Q7Z2Y5	NRK_HUMAN	Nik related kinase	5	20	0	27	1403	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTCACAGGTATTTCCAACACT	0.368000										HNSCC(51;0.14)			1	1	1	1	1	1	0.944603	5	20	0	27	0	0	0	0	0	27	5
SERPINA7	6906	broad.mit.edu	37	X	105280576	105280576	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105280576G>T	ENST00000327674.4	-	1	809	c.474C>A	c.(472-474)gtC>gtA	p.V158V	SERPINA7_ENST00000372563.1_Silent_p.V158V			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	55	97	0	178	158					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	CGGTAGAAAAGACTTCAGTCT	0.438000													1	1	1	1	1	1	1.000000	62	102	0	188	0	0	0	0	0	188	5
MUM1L1	139221	broad.mit.edu	37	X	105451046	105451046	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105451046C>A	ENST00000337685.2	+	5	2406	c.1621C>A	c.(1621-1623)Ctc>Atc	p.L541I	MUM1L1_ENST00000357175.2_Missense_Mutation_p.L541I|MUM1L1_ENST00000372552.1_Missense_Mutation_p.L541I	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	9	13	0	28	541										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAAAAAATTCTCCCTGACCG	0.473000													1	1	1	1	1	1	0.997267	9	14	0	32	0	1.692308e-01	0	2	0	32	5
CXorf57	55086	broad.mit.edu	37	X	105876450	105876450	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:105876450C>T	ENST00000372548.4	+	6	1380	c.1271C>T	c.(1270-1272)tCg>tTg	p.S424L	CXorf57_ENST00000372544.2_Missense_Mutation_p.S424L	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	20	44	0	52	424										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTTTCAACATCGCAGCCAGAA	0.318000													1	1	1	1	1	1	1.000000	22	46	0	57	0	0	0	1	0	57	5
RNF128	79589	broad.mit.edu	37	X	106038844	106038844	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106038844T>G	ENST00000255499.2	+	7	1438	c.1188T>G	c.(1186-1188)aaT>aaG	p.N396K	RNF128_ENST00000324342.3_Missense_Mutation_p.N370K	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	23	165	0	190	396						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATGAAGCAAATTCTGTGGCAG	0.358000													1	1	1	1	1	1	1.000000	26	186	0	214	1	8.261549e-01	7	18	0	214	5
TBC1D8B	54885	broad.mit.edu	37	X	106083350	106083350	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106083350C>T	ENST00000357242.5	+	9	1600	c.1426C>T	c.(1426-1428)Cga>Tga	p.R476*	TBC1D8B_ENST00000276175.3_Nonsense_Mutation_p.R470*|TBC1D8B_ENST00000310452.2_Nonsense_Mutation_p.R476*	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	33	67	0	99	476						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TAGTATGTTTCGAACCAAAAA	0.348000													1	0	1	1	1	1	1.000000	38	72	0	114	0	8.188844e-01	0	8	0	114	4
TBC1D8B	54885	broad.mit.edu	37	X	106093368	106093368	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106093368C>A	ENST00000357242.5	+	12	2125	c.1951C>A	c.(1951-1953)Ctc>Atc	p.L651I	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.L645I	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	28	43	0	73	651	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCTTGGTTTCTCACACTTTT	0.413000													1	1	1	1	1	1	1.000000	28	44	0	78	0	9.561949e-01	0	11	0	78	5
TBC1D8B	54885	broad.mit.edu	37	X	106116961	106116961	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106116961C>A	ENST00000357242.5	+	21	3303	c.3129C>A	c.(3127-3129)ttC>ttA	p.F1043L	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.F1037L	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	35	82	0	157	1043						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAAAGGATTCTCTGGTACTG	0.453000													1	1	1	1	1	1	1.000000	40	92	0	187	0	7.483811e-01	0	8	0	187	5
RIPPLY1	92129	broad.mit.edu	37	X	106146382	106146382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106146382C>A	ENST00000276173.4	-	1	165	c.136G>T	c.(136-138)Gaa>Taa	p.E46*	RIPPLY1_ENST00000411805.1_Nonsense_Mutation_p.E46*|CLDN2_ENST00000541806.1_Intron	NM_138382.2	NP_612391.1	Q0D2K3	RIPP1_HUMAN	ripply transcriptional repressor 1	8	16	0	37	46					negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus				lung(1)|urinary_tract(1)	2						CCATTTACTTCTTGTCCAGAG	0.527000													1	0	1	1	1	1	0.996951	9	17	0	40	0	0	0	0	0	40	4
NUP62CL	54830	broad.mit.edu	37	X	106396734	106396734	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106396734C>A	ENST00000372466.4	-	6	597		c.e6-1		NUP62CL_ENST00000372461.3_Splice_Site	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	10	14	0	15						protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						AAATACGAATCTATAAAGAGA	0.254000													0	1	1	1	1	1	0.999408	11	16	0	16	0	0	1	0	0	16	4
FRMPD3	84443	broad.mit.edu	37	X	106843539	106843539	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:106843539T>G	ENST00000276185.4	+	16	2369	c.2369T>G	c.(2368-2370)aTt>aGt	p.I790S				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	9	20	0	36	790						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CCAGGTCTGATTGTGCTGGCC	0.493000													1	1	1	1	1	1	0.996615	9	21	0	41	0	0	0	0	0	41	5
TSC22D3	1831	broad.mit.edu	37	X	107018442	107018442	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107018442G>A	ENST00000372383.4	-	1	575	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	TSC22D3_ENST00000514426.1_Missense_Mutation_p.R2W|TSC22D3_ENST00000506081.1_Missense_Mutation_p.R70W|TSC22D3_ENST00000315660.4_Missense_Mutation_p.R70W|TSC22D3_ENST00000372384.2_Missense_Mutation_p.R70W	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	43	59	0	130	0							sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						GAATCCTGCCGCATTATGCTG	0.562000													1	1	1	1	1	1	1.000000	44	65	0	140	0	9.978801e-01	0	18	0	140	5
MID2	11043	broad.mit.edu	37	X	107169924	107169924	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107169924A>G	ENST00000262843.6	+	10	2377	c.1829A>G	c.(1828-1830)aAa>aGa	p.K610R	RP6-191P20.4_ENST00000430140.1_RNA|MID2_ENST00000443968.2_Missense_Mutation_p.K580R	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	36	50	0	77	610	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ATTGCCTACAAATCAGCTCCA	0.398000													1	1	1	1	1	1	1.000000	41	54	0	86	1	9.157355e-01	8	0	0	86	5
TEX13B	0	broad.mit.edu	37	X	107224489	107224489	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107224489G>T	ENST00000302917.1	-	3	852	c.760C>A	c.(760-762)Ctc>Atc	p.L254I		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	11	226	0	258	254										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CAAGCCCAGAGAAGACAGACA	0.542000													1	0	1	1	0	1	0.999183	12	233	0	277	0	0	0	0	0	277	3
PSMD10	5716	broad.mit.edu	37	X	107331316	107331316	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107331316G>T	ENST00000217958.3	-	3	324	c.227C>A	c.(226-228)cCt>cAt	p.P76H	PSMD10_ENST00000340200.5_Missense_Mutation_p.P43H|PSMD10_ENST00000361815.5_Missense_Mutation_p.P76H|PSMD10_ENST00000372296.1_Intron|PSMD10_ENST00000372295.1_Intron	NM_002814.3|NM_170750.2	NP_002805.1|NP_736606.1	O75832	PSD10_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 10	7	104	0	119	76	Interaction with RELA.				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			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						AATATGAAGAGGAGACCAACC	0.453000													1	0	1	1	0	1	0.981685	7	109	0	129	0	9.179290e-01	0	72	0	129	3
COL4A6	1288	broad.mit.edu	37	X	107420147	107420147	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107420147A>G	ENST00000394872.2	-	28	2844	c.2613T>C	c.(2611-2613)aaT>aaC	p.N871N	COL4A6_ENST00000538570.1_Silent_p.N870N|COL4A6_ENST00000545689.1_Silent_p.N870N|COL4A6_ENST00000372216.4_Silent_p.N871N|COL4A6_ENST00000334504.7_Silent_p.N870N			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	62	104	0	220	871	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTAGGCCTGGATTTCCAGGAA	0.527000									Alport syndrome with Diffuse Leiomyomatosis				1	1	1	1	1	1	1.000000	69	107	0	228	0	0	0	1	0	228	5
COL4A5	1287	broad.mit.edu	37	X	107863490	107863490	+	Splice_Site	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107863490T>C	ENST00000328300.6	+	31	2755	c.2509_splice	c.e31-1	p.G837_splice	COL4A5_ENST00000361603.2_Splice_Site_p.G837_splice	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	23	50	0	98	837	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATTAACTAGGTTTACATGGAA	0.423000									Alport syndrome with Diffuse Leiomyomatosis				1	1	1	1	1	1	1.000000	25	53	0	112	0	2.510163e-01	0	3	0	112	5
COL4A5	1287	broad.mit.edu	37	X	107869523	107869523	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107869523G>A	ENST00000328300.6	+	36	3434	c.3190G>A	c.(3190-3192)Gac>Aac	p.D1064N	COL4A5_ENST00000361603.2_Missense_Mutation_p.D1064N	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	22	57	0	112	1064	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACAGAAAGGCGACAAAGGTGA	0.488000									Alport syndrome with Diffuse Leiomyomatosis				1	1	1	1	1	1	1.000000	24	58	0	121	0	9.103641e-02	0	2	0	121	5
COL4A5	1287	broad.mit.edu	37	X	107936062	107936062	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:107936062G>T	ENST00000328300.6	+	50	4857	c.4613G>T	c.(4612-4614)aGa>aTa	p.R1538I	COL4A5_ENST00000361603.2_Missense_Mutation_p.R1532I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	32	50	0	82	1532	Collagen IV NC1.		W -> S (in APSX; adult type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTGCTTCAAGAAATGACTAT	0.483000									Alport syndrome with Diffuse Leiomyomatosis				1	1	1	1	1	1	1.000000	34	55	0	85	0	3.317510e-01	0	3	0	85	5
ACSL4	2182	broad.mit.edu	37	X	108902619	108902619	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:108902619C>A	ENST00000340800.2	-	16	2446	c.1942G>T	c.(1942-1944)Gaa>Taa	p.E648*	ACSL4_ENST00000348502.6_Nonsense_Mutation_p.E607*|ACSL4_ENST00000469796.2_Nonsense_Mutation_p.E648*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	27	71	0	102	648					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TTCAGTATTTCAGCTTCCATA	0.383000													1	1	1	1	1	1	1.000000	28	80	0	114	0	1	0	99	0	114	5
ACSL4	2182	broad.mit.edu	37	X	108926385	108926385	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:108926385T>G	ENST00000340800.2	-	4	835	c.331A>C	c.(331-333)Aat>Cat	p.N111H	ACSL4_ENST00000348502.6_Missense_Mutation_p.N70H|ACSL4_ENST00000469796.2_Missense_Mutation_p.N111H	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	10	53	0	59	111					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	ACTTTTCCATTTGGCTGCATT	0.348000													1	1	1	1	1	1	0.997656	10	54	0	61	1	9.134726e-01	5	21	0	61	5
TMEM164	84187	broad.mit.edu	37	X	109414704	109414704	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:109414704C>A	ENST00000372073.1	+	6	979	c.643C>A	c.(643-645)Ctc>Atc	p.L215I	TMEM164_ENST00000372068.2_Missense_Mutation_p.L215I|TMEM164_ENST00000372072.3_Missense_Mutation_p.L66I|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000288381.4_Missense_Mutation_p.L176I			Q5U3C3	TM164_HUMAN	transmembrane protein 164	34	371	0	511	215						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						CTCAACTGGCCTCATGTTCTT	0.507000													1	1	1	1	0	1	1.000000	35	398	0	561	0	4.428638e-01	0	18	0	561	4
RGAG1	57529	broad.mit.edu	37	X	109694334	109694334	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:109694334G>A	ENST00000465301.2	+	3	735	c.489G>A	c.(487-489)gaG>gaA	p.E163E	RGAG1_ENST00000540313.1_Silent_p.E163E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	9	87	0	137	163										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATTCTGCAGAGATATCACCAT	0.478000													1	0	1	1	0	1	0.997375	10	89	0	141	0	0	0	0	0	141	3
RGAG1	57529	broad.mit.edu	37	X	109695280	109695280	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:109695280G>T	ENST00000465301.2	+	3	1681	c.1435G>T	c.(1435-1437)Ggc>Tgc	p.G479C	RGAG1_ENST00000540313.1_Missense_Mutation_p.G479C	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	15	311	0	295	479										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AATGCCCACAGGCTCTATGAA	0.507000													1	0	1	1	0	1	0.999880	15	320	0	309	0	0	0	0	0	309	3
CAPN6	827	broad.mit.edu	37	X	110496278	110496278	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:110496278A>G	ENST00000324068.1	-	4	631	c.464T>C	c.(463-465)aTg>aCg	p.M155T	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	28	45	0	69	155	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AAACTCATTCATGGAAGTGGA	0.433000													1	1	1	1	1	1	1.000000	29	47	0	73	0	0	0	0	0	73	5
ALG13	79868	broad.mit.edu	37	X	110978304	110978304	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:110978304C>A	ENST00000394780.3	+	22	2495	c.2483C>A	c.(2482-2484)tCt>tAt	p.S828Y	ALG13_ENST00000251943.4_Missense_Mutation_p.S724Y|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	15	28	0	37	828					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			endometrium(2)|lung(10)|skin(1)	13						AAGTCATGTTCTATGTCTCCT	0.323000													1	1	1	1	1	1	0.999992	17	31	0	45	1	9.038173e-01	10	0	0	45	5
ALG13	79868	broad.mit.edu	37	X	111003114	111003114	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111003114G>T	ENST00000394780.3	+	27	3313	c.3301G>T	c.(3301-3303)Gtt>Ttt	p.V1101F	ALG13_ENST00000251943.4_Missense_Mutation_p.V918F|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	17	26	0	47	1101					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			endometrium(2)|lung(10)|skin(1)	13						CTGGCATCCAGTTGGTACAGC	0.498000													1	1	1	1	1	1	0.999997	18	29	0	52	0	9.990587e-01	0	24	0	52	5
TRPC5	7224	broad.mit.edu	37	X	111019750	111019750	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111019750C>A	ENST00000262839.2	-	11	3631	c.2713G>T	c.(2713-2715)Gaa>Taa	p.E905*		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	6	51	0	45	905					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCACCTAATTCTACCTCACTG	0.483000													1	0	1	1	1	1	0.967784	6	51	0	47	0	0	0	0	0	47	4
TRPC5	7224	broad.mit.edu	37	X	111019917	111019917	+	Missense_Mutation	SNP	A	A	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111019917A>T	ENST00000262839.2	-	11	3464	c.2546T>A	c.(2545-2547)tTc>tAc	p.F849Y		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	47	81	0	136	849					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AAATTTGGAGAATAGGAGACC	0.458000													1	1	1	1	1	1	1.000000	54	84	0	151	0	0	0	0	0	151	5
TRPC5	7224	broad.mit.edu	37	X	111078180	111078180	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111078180G>T	ENST00000262839.2	-	7	2783	c.1865C>A	c.(1864-1866)gCt>gAt	p.A622D		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	85	163	0	269	622					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTCATCATAGCAATCAGCAT	0.448000													1	1	1	1	1	1	1.000000	87	172	0	290	0	0	0	0	0	290	5
LHFPL1	340596	broad.mit.edu	37	X	111874817	111874817	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:111874817A>C	ENST00000371968.3	-	4	733	c.494T>G	c.(493-495)cTt>cGt	p.L165R	LHFPL1_ENST00000478229.1_5'UTR|LHFPL1_ENST00000536453.1_Missense_Mutation_p.L132R	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	17	49	0	86	165						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGCCCAGCCAAGCCGACAGGT	0.473000													1	1	1	1	1	1	0.999994	18	51	0	93	0	0	0	0	0	93	5
SLC6A14	11254	broad.mit.edu	37	X	115574871	115574871	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:115574871A>C	ENST00000371900.4	+	5	657	c.569A>C	c.(568-570)aAa>aCa	p.K190T		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	7	28	0	40	190					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CAAATGAATAAAAGCTGGGTA	0.363000													1	0	1	1	0	1	0.992080	8	30	0	41	0	0	0	0	0	41	3
SLC6A14	11254	broad.mit.edu	37	X	115590115	115590115	+	Silent	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:115590115G>T	ENST00000371900.4	+	14	2011	c.1923G>T	c.(1921-1923)ccG>ccT	p.P641P		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	35	67	0	114	641					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	GCAGAAAACCGGAATGAGATC	0.343000													1	1	1	1	1	1	1.000000	37	71	0	130	0	0	0	0	0	130	5
KLHL13	90293	broad.mit.edu	37	X	117043459	117043459	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117043459G>T	ENST00000371876.1	-	4	3439	c.1018C>A	c.(1018-1020)Ctc>Atc	p.L340I	KLHL13_ENST00000371878.1_Missense_Mutation_p.L340I|KLHL13_ENST00000541812.1_Missense_Mutation_p.L375I|KLHL13_ENST00000540167.1_Missense_Mutation_p.L375I|KLHL13_ENST00000371882.1_Missense_Mutation_p.L340I|KLHL13_ENST00000469946.1_Missense_Mutation_p.L340I|KLHL13_ENST00000262820.3_Missense_Mutation_p.L391I|KLHL13_ENST00000545703.1_Missense_Mutation_p.L349I|KLHL13_ENST00000539496.1_Missense_Mutation_p.L394I			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	28	52	0	95	391					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACCACATAGAGAAAATTTCCA	0.443000													1	1	1	1	1	1	1.000000	30	55	0	96	1	9.993865e-01	26	0	0	96	5
WDR44	54521	broad.mit.edu	37	X	117527097	117527097	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117527097A>C	ENST00000254029.3	+	4	1084	c.689A>C	c.(688-690)aAg>aCg	p.K230T	WDR44_ENST00000371822.5_Missense_Mutation_p.K205T|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.K230T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	65	123	0	219	230	Pro-rich.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AGTACAAAGAAGCCTGTTCCA	0.517000													1	1	1	1	1	1	1.000000	70	126	0	235	1	9.707111e-01	10	3	0	235	5
DOCK11	139818	broad.mit.edu	37	X	117817047	117817047	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117817047T>G	ENST00000276204.6	+	52	6043	c.5969T>G	c.(5968-5970)tTt>tGt	p.F1990C	DOCK11_ENST00000276202.7_Missense_Mutation_p.F1990C			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	53	74	0	106	1990	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CACAGGAAATTTATACAAGCA	0.363000													1	1	1	1	1	1	1.000000	56	78	0	117	1	9.999999e-01	32	11	0	117	5
IL13RA1	3597	broad.mit.edu	37	X	117875003	117875003	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:117875003T>G	ENST00000371666.3	+	2	179	c.112T>G	c.(112-114)Ttg>Gtg	p.L38V	IL13RA1_ENST00000371642.1_Missense_Mutation_p.L38V	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	31	52	0	86	38						interleukin-13 receptor complex	cytokine receptor activity	p.L38V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TGTGACAAATTTGAGTGTCTC	0.373000													1	1	1	1	1	1	1.000000	38	55	0	98	0	9.999971e-01	0	36	0	98	5
SLC25A5	292	broad.mit.edu	37	X	118603829	118603829	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118603829G>T	ENST00000317881.8	+	2	433	c.317G>T	c.(316-318)aGa>aTa	p.R106I	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	51	142	0	212	106					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GTGGACAAGAGAACCCAGTTT	0.517000													1	1	1	1	1	1	1.000000	54	156	0	225	0	1	1	1390	0	225	5
NKRF	55922	broad.mit.edu	37	X	118724345	118724345	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118724345T>C	ENST00000371527.1	-	2	1695	c.1043A>G	c.(1042-1044)gAt>gGt	p.D348G	NKRF_ENST00000542113.1_Missense_Mutation_p.D363G|NKRF_ENST00000304449.5_Missense_Mutation_p.D348G|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	25	89	0	107	348					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						ACCAATTGCATCATTTGCATT	0.408000													1	1	1	1	1	1	1.000000	26	96	0	115	0	9.744868e-01	0	25	0	115	5
NKRF	55922	broad.mit.edu	37	X	118724928	118724928	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118724928G>T	ENST00000371527.1	-	2	1112	c.460C>A	c.(460-462)Cct>Act	p.P154T	NKRF_ENST00000542113.1_Missense_Mutation_p.P169T|NKRF_ENST00000304449.5_Missense_Mutation_p.P154T|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	30	74	0	116	154	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	p.P154S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GAAGGCTCAGGAGTTGACTGA	0.463000													1	1	1	1	1	1	1.000000	32	79	0	134	0	9.698883e-01	0	17	0	134	5
SEPT6	23157	broad.mit.edu	37	X	118763353	118763353	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118763353G>A	ENST00000394610.1	-	9	1472	c.1208C>T	c.(1207-1209)gCt>gTt	p.A403V	SEPT6_ENST00000354416.3_Missense_Mutation_p.A403V|SEPT6_ENST00000354228.4_Missense_Mutation_p.A403V|SEPT6_ENST00000360156.7_Missense_Mutation_p.A403V|SEPT6_ENST00000343984.5_Missense_Mutation_p.A403V|SEPT6_ENST00000394616.4_Missense_Mutation_p.A345V|SEPT6_ENST00000489216.1_Missense_Mutation_p.A403V|SEPT6_ENST00000467310.1_5'UTR|SEPT6_ENST00000394617.2_Missense_Mutation_p.A433V	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	49	90	0	186	403					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GAGCAGCTCAGCCGCCGTCTT	0.512000			T	MLL	AML								1	1	1	1	1	1	1.000000	52	94	0	200	1	1	87	14	0	200	5
UPF3B	0	broad.mit.edu	37	X	118979216	118979216	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:118979216T>A	ENST00000276201.2	-	4	483	c.414A>T	c.(412-414)aaA>aaT	p.K138N	UPF3B_ENST00000345865.2_Missense_Mutation_p.K138N|UPF3B_ENST00000478840.1_5'UTR	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	25	38	0	83	138	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				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			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTTTGCAGCTTTTTGAAAAG	0.343000													1	1	1	1	1	1	1.000000	29	42	0	90	1	9.999897e-01	34	0	0	90	5
NKAP	79576	broad.mit.edu	37	X	119070327	119070327	+	Silent	SNP	C	C	T	rs10577974		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119070327C>T	ENST00000371410.3	-	4	772	c.606G>A	c.(604-606)tcG>tcA	p.S202S	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	10	38	0	57	202	Lys-rich.|Necessary for interaction with CIR1.				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			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GTTTTCTTTTCGATGATTTTT	0.348000													1	1	1	1	1	1	0.998946	11	41	0	58	0	9.996442e-01	0	62	0	58	5
LAMP2	0	broad.mit.edu	37	X	119565273	119565273	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119565273C>T	ENST00000200639.4	-	9	1274	c.1138G>A	c.(1138-1140)Gcg>Acg	p.A380T	LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000538785.1_Intron			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	76	170	0	252	380					platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GCTCCCACCGCTATGGGCACA	0.438000													1	1	1	1	1	1	1.000000	83	184	0	278	0	1	0	197	0	278	5
CUL4B	8450	broad.mit.edu	37	X	119670796	119670796	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119670796G>T	ENST00000371322.5	-	15	2093	c.2032C>A	c.(2032-2034)Cat>Aat	p.H678N	CUL4B_ENST00000404115.3_Missense_Mutation_p.H696N|CUL4B_ENST00000336592.6_Missense_Mutation_p.H683N	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	22	37	0	67	696					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGTGGTAAATGAACTTCCATA	0.353000													1	1	1	1	1	1	1.000000	24	39	0	76	1	1	63	4	0	76	5
C1GALT1C1	29071	broad.mit.edu	37	X	119760240	119760240	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	C	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:119760240T>C	ENST00000304661.5	-	2	1020	c.782A>G	c.(781-783)tAt>tGt	p.Y261C	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.Y261C	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	24	59	0	86	261						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						GTTGGGGTGATAAGTCATTGC	0.383000													1	1	1	1	1	1	1.000000	24	61	0	91	0	1	0	155	0	91	5
GRIA3	2892	broad.mit.edu	37	X	122460031	122460031	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:122460031C>T	ENST00000264357.5	+	4	955	c.663C>T	c.(661-663)tgC>tgT	p.C221C	GRIA3_ENST00000542149.1_Silent_p.C221C|GRIA3_ENST00000371251.1_Silent_p.C221C|GRIA3_ENST00000371256.5_Silent_p.C221C|GRIA3_ENST00000541091.1_Silent_p.C205C	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	43	61	0	102	221					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			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TGATTGACTGCGAAGTCGAAA	0.418000													1	1	1	1	1	1	1.000000	50	68	0	114	0	0	0	0	0	114	5
GRIA3	2892	broad.mit.edu	37	X	122460038	122460038	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:122460038G>A	ENST00000264357.5	+	4	962	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	GRIA3_ENST00000542149.1_Missense_Mutation_p.E224K|GRIA3_ENST00000371251.1_Missense_Mutation_p.E224K|GRIA3_ENST00000371256.5_Missense_Mutation_p.E224K|GRIA3_ENST00000541091.1_Missense_Mutation_p.E208K	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	12	89	0	97	224					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			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CTGCGAAGTCGAAAGGATTAA	0.418000													1	1	1	1	1	1	0.999286	12	104	0	108	0	0	0	0	0	108	5
GRIA3	2892	broad.mit.edu	37	X	122561805	122561805	+	Missense_Mutation	SNP	C	C	T	rs137852351		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:122561805C>T	ENST00000264357.5	+	12	2183	c.1891C>T	c.(1891-1893)Cgc>Tgc	p.R631C	GRIA3_ENST00000542149.1_Missense_Mutation_p.R631C|GRIA3_ENST00000371251.1_Missense_Mutation_p.R631C|GRIA3_ENST00000371256.5_Missense_Mutation_p.R631C	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	15	113	0	140	631			R -> S (in MRX94; homomers have minimal or no current; heteromers have altered desensitization kinetics).		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	p.R631C(2)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ACTCTCCGGGCGCATTGTTGG	0.438000													1	1	1	1	1	1	0.999904	15	121	0	169	0	0	0	0	0	169	5
XIAP	331	broad.mit.edu	37	X	123019607	123019607	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123019607C>A	ENST00000371199.3	+	2	394	c.95C>A	c.(94-96)aCt>aAt	p.T32N	XIAP_ENST00000355640.3_Missense_Mutation_p.T32N|XIAP_ENST00000434753.3_Missense_Mutation_p.T32N|XIAP_ENST00000468691.1_Intron	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	47	81	0	133	32					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			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AGATTAAAAACTTTTGCTAAT	0.378000									X-linked Lymphoproliferative syndrome				1	1	1	1	1	1	1.000000	49	88	0	145	1	7.757586e-01	6	0	0	145	5
STAG2	10735	broad.mit.edu	37	X	123185195	123185195	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123185195G>T	ENST00000371160.1	+	13	1437	c.1147G>T	c.(1147-1149)Gaa>Taa	p.E383*	STAG2_ENST00000218089.9_Nonsense_Mutation_p.E383*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Nonsense_Mutation_p.E383*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.E383*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.E383*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.E314*			Q8N3U4	STAG2_HUMAN	stromal antigen 2	13	51	0	47	383					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCTTGACAAAGAATATGATGT	0.279000													1	1	1	1	1	1	0.999933	15	56	0	55	0	9.774079e-01	0	27	0	55	5
TENM1	10178	broad.mit.edu	37	X	123519848	123519848	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123519848G>T	ENST00000422452.2	-	29	5818	c.5755C>A	c.(5755-5757)Ctc>Atc	p.L1919I	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.L1912I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1	19	112	0	122																		GTGACTGAGAGCAGACAATCT	0.493000													1	1	1	1	1	1	0.999997	20	113	0	126	0	0	0	0	0	126	5
TENM1	10178	broad.mit.edu	37	X	123554640	123554640	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:123554640C>A	ENST00000422452.2	-	25	4566	c.4503G>T	c.(4501-4503)atG>atT	p.M1501I	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.M1494I	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1	48	60	0	141																		AAGGGGCTTTCATCTTTGCAT	0.463000													1	1	1	1	1	1	1.000000	51	64	0	165	0	0	0	0	0	165	5
TENM1	10178	broad.mit.edu	37	X	124097442	124097442	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:124097442C>A	ENST00000422452.2	-	1	224	c.161G>T	c.(160-162)aGg>aTg	p.R54M	TENM1_ENST00000371130.3_Missense_Mutation_p.R54M	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1	72	101	0	200																		GTAATTCATCCTCAGCTCCTG	0.373000													1	1	1	1	1	1	1.000000	78	121	0	231	0	0	0	0	0	231	5
ACTRT1	139741	broad.mit.edu	37	X	127185898	127185898	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:127185898C>T	ENST00000371124.3	-	1	484	c.288G>A	c.(286-288)gaG>gaA	p.E96E		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	127	218	0	384	96						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TTACTCCAAGCTCCCGCTCAA	0.473000													1	1	1	1	1	1	1.000000	143	237	0	435	0	0	0	0	0	435	5
SMARCA1	6594	broad.mit.edu	37	X	128599822	128599822	+	Splice_Site	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128599822T>G	ENST00000371122.4	-	22	2945	c.2817_splice	c.e22+1	p.K939_splice	SMARCA1_ENST00000371121.3_Splice_Site_p.K927_splice|SMARCA1_ENST00000371123.1_Splice_Site_p.K927_splice	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	12	82	0	89	939					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			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACATAGTACTTTGGCATCCAG	0.333000													1	1	1	1	1	1	0.999647	13	95	0	102	0	9.999882e-01	0	167	0	102	5
SMARCA1	6594	broad.mit.edu	37	X	128657270	128657270	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128657270G>A	ENST00000371122.4	-	1	207	c.78C>T	c.(76-78)gaC>gaT	p.D26D	SMARCA1_ENST00000371121.3_Silent_p.D26D|SMARCA1_ENST00000371123.1_Silent_p.D26D	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	16	93	0	129	26					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			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGGGCTGCTCGTCCTCTATGA	0.687000													1	1	1	1	0	1	0.999954	16	107	0	132	0	8.744648e-01	0	27	0	132	4
OCRL	4952	broad.mit.edu	37	X	128696430	128696430	+	Missense_Mutation	SNP	C	C	T	rs137853831		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128696430C>T	ENST00000371113.4	+	11	1174	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	OCRL_ENST00000357121.5_Missense_Mutation_p.R337C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	53	103	0	165	337			R -> C (in OCRL; associated with I-361; dbSNP:rs137853831).|R -> P (in OCRL).		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCGATACATTCGTGATATTGC	0.393000													1	1	1	1	1	1	1.000000	54	111	0	181	1	9.961167e-01	21	0	0	181	5
OCRL	4952	broad.mit.edu	37	X	128710410	128710410	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128710410G>T	ENST00000371113.4	+	18	2161	c.1996G>T	c.(1996-1998)Gat>Tat	p.D666Y	OCRL_ENST00000357121.5_Missense_Mutation_p.D666Y	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	6	62	0	84	666					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TCGAGGCAAAGATTACTTCTT	0.433000													1	0	1	1	0	1	0.967195	6	65	0	89	0	6.013349e-01	0	22	0	89	3
XPNPEP2	7512	broad.mit.edu	37	X	128902444	128902444	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:128902444C>A	ENST00000371106.3	+	21	2200	c.2008C>A	c.(2008-2010)Ctt>Att	p.L670I		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	7	29	0	51	670					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CCTTGCCATCCTTGGCTGGAG	0.612000													1	1	1	1	1	1	0.984194	7	31	0	57	0	0	0	0	0	57	5
UTP14A	10813	broad.mit.edu	37	X	129053155	129053155	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129053155G>T	ENST00000394422.3	+	7	570	c.542G>T	c.(541-543)aGa>aTa	p.R181I	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.R129I|UTP14A_ENST00000371042.3_Missense_Mutation_p.R13I|UTP14A_ENST00000371051.5_Missense_Mutation_p.R127I	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	42	76	0	143	181					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TTTAAGGCAAGAACTCCCCTG	0.438000													1	1	1	1	1	1	1.000000	44	81	0	153	0	9.999733e-01	0	34	0	153	5
BCORL1	63035	broad.mit.edu	37	X	129147295	129147295	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129147295G>T	ENST00000540052.1	+	3	591	c.547G>T	c.(547-549)Gtc>Ttc	p.V183F	BCORL1_ENST00000218147.7_Missense_Mutation_p.V183F|BCORL1_ENST00000359304.2_Missense_Mutation_p.V183F|BCORL1_ENST00000303743.5_Missense_Mutation_p.V183F	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	14	140	0	157	183					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGGAACTGGAGTCCCTGTGGA	0.577000													1	1	1	1	0	1	0.999797	14	151	0	170	0	6.965950e-02	0	5	0	170	4
BCORL1	63035	broad.mit.edu	37	X	129148945	129148945	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129148945G>T	ENST00000540052.1	+	3	2241	c.2197G>T	c.(2197-2199)Gac>Tac	p.D733Y	BCORL1_ENST00000218147.7_Missense_Mutation_p.D733Y|BCORL1_ENST00000359304.2_Missense_Mutation_p.D733Y|BCORL1_ENST00000303743.5_Missense_Mutation_p.D733Y	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	30	55	0	136	733					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.D733N(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCTGAACAAAGACCCCAACCT	0.597000													1	1	1	1	1	1	1.000000	31	60	0	155	0	9.910635e-01	0	18	0	155	5
BCORL1	63035	broad.mit.edu	37	X	129150157	129150157	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129150157A>G	ENST00000540052.1	+	3	3453	c.3409A>G	c.(3409-3411)Aag>Gag	p.K1137E	BCORL1_ENST00000218147.7_Missense_Mutation_p.K1137E|BCORL1_ENST00000359304.2_Missense_Mutation_p.K1137E|BCORL1_ENST00000303743.5_Missense_Mutation_p.K1137E	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	8	34	0	31	1137					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCACAAGCCAAGGCCGTGGT	0.587000													0	0	1	0	0	1	0.997869	10	40	0	31	1	9.343765e-01	21	1	0	31	1
RBMX2	51634	broad.mit.edu	37	X	129545332	129545332	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129545332G>T	ENST00000305536.6	+	5	378	c.314G>T	c.(313-315)aGa>aTa	p.R105I	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	6	97	0	120	105	RRM.						nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						ATCAAAGGAAGAACTATCCGA	0.458000													1	0	1	1	0	1	0.966299	6	108	0	129	0	5.957993e-01	0	35	0	129	3
ENOX2	10495	broad.mit.edu	37	X	129768979	129768979	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129768979C>A	ENST00000338144.3	-	13	1902	c.1485G>T	c.(1483-1485)atG>atT	p.M495I	ENOX2_ENST00000394363.1_Missense_Mutation_p.M466I|ENOX2_ENST00000370935.1_Missense_Mutation_p.M466I|ENOX2_ENST00000370927.1_Missense_Mutation_p.M495I	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	9	20	0	22	495					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			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GATTTTCCAACATTTTTTCCA	0.368000													1	1	1	1	1	1	0.996543	9	22	0	25	1	7.753938e-01	8	1	0	25	5
ENOX2	10495	broad.mit.edu	37	X	129843233	129843233	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:129843233G>A	ENST00000338144.3	-	4	450	c.33C>T	c.(31-33)taC>taT	p.Y11Y	ENOX2_ENST00000394363.1_Intron|ENOX2_ENST00000370935.1_Intron|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370927.1_Silent_p.Y11Y	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	28	38	0	79	11					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			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						AGCCTATTTCGTAGACCCACA	0.413000													1	1	1	1	1	1	1.000000	30	42	0	90	0	6.877151e-01	0	2	0	90	5
IGSF1	3547	broad.mit.edu	37	X	130412665	130412665	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:130412665G>A	ENST00000370904.1	-	18	2694	c.1784C>T	c.(1783-1785)cCg>cTg	p.P595L	IGSF1_ENST00000370903.3_Missense_Mutation_p.P609L|IGSF1_ENST00000361420.3_Missense_Mutation_p.P604L|IGSF1_ENST00000370910.1_Missense_Mutation_p.P595L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	39	100	0	160	604	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTTCTTCCACGGGGCCAGAGG	0.557000													1	1	1	1	1	1	1.000000	48	106	0	177	0	3.735636e-01	0	4	0	177	5
IGSF1	3547	broad.mit.edu	37	X	130417108	130417108	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:130417108C>A	ENST00000370904.1	-	12	1681	c.771G>T	c.(769-771)gaG>gaT	p.E257D	IGSF1_ENST00000370903.3_Missense_Mutation_p.E266D|IGSF1_ENST00000361420.3_Missense_Mutation_p.E266D|IGSF1_ENST00000370910.1_Missense_Mutation_p.E257D			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	26	52	0	77	266	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AAAAGGACTTCTCCAAGTCTT	0.428000													1	1	1	1	1	1	1.000000	27	58	0	80	0	0	0	1	0	80	5
OR13H1	347468	broad.mit.edu	37	X	130678387	130678387	+	Missense_Mutation	SNP	C	C	A	rs144245032	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:130678387C>A	ENST00000338616.3	+	1	438	c.340C>A	c.(340-342)Cta>Ata	p.L114I		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	38	83	0	92	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					AGAGTGCCTCCTACTGGCTGC	0.522000													1	1	1	1	1	1	1.000000	39	83	0	95	0	0	0	0	0	95	5
HS6ST2	90161	broad.mit.edu	37	X	132091120	132091120	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:132091120G>A	ENST00000370836.2	-	3	1078	c.663C>T	c.(661-663)ttC>ttT	p.F221F	HS6ST2_ENST00000521489.1_Silent_p.F221F|HS6ST2_ENST00000370837.1_Silent_p.F75F|HS6ST2_ENST00000370833.2_Silent_p.F75F	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	20	32	0	80	221						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					CCTTGATGTCGAAGTCTACCT	0.637000													1	1	1	1	1	1	1.000000	23	36	0	90	0	9.775748e-01	0	12	0	90	5
GPC4	2239	broad.mit.edu	37	X	132437257	132437257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:132437257G>A	ENST00000370828.3	-	8	1929	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	GPC4_ENST00000535467.1_Nonsense_Mutation_p.R399*	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	35	80	0	126	469					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			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTCATCACTCGAAGAGCCATG	0.453000													1	1	1	1	1	1	1.000000	38	84	0	134	0	6.059524e-01	0	6	0	134	5
PHF6	84295	broad.mit.edu	37	X	133527538	133527538	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:133527538C>A	ENST00000332070.3	+	4	450	c.248C>A	c.(247-249)tCt>tAt	p.S83Y	PHF6_ENST00000394292.1_Missense_Mutation_p.S83Y|PHF6_ENST00000370800.4_Missense_Mutation_p.S83Y|PHF6_ENST00000416404.2_Missense_Mutation_p.S49Y|PHF6_ENST00000370803.3_Missense_Mutation_p.S83Y|PHF6_ENST00000370799.1_Missense_Mutation_p.S83Y	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	40	60	0	63	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TAGATGTGTTCTTTGTGCCAT	0.368000			F, N, Splice, Mis		ETP ALL								1	1	1	1	1	1	1.000000	46	64	0	68	1	8.578905e-01	5	2	0	68	5
PHF6	84295	broad.mit.edu	37	X	133549119	133549119	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:133549119T>C	ENST00000332070.3	+	8	1005	c.803T>C	c.(802-804)gTa>gCa	p.V268A	PHF6_ENST00000394292.1_Missense_Mutation_p.V269A|PHF6_ENST00000370800.4_Missense_Mutation_p.V269A|PHF6_ENST00000416404.2_Missense_Mutation_p.V234A|PHF6_ENST00000370803.3_Missense_Mutation_p.V268A|PHF6_ENST00000370799.1_Missense_Mutation_p.V269A	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	3	49	0	36	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					ATTAAAACTGTACTTCAGGAG	0.338000			F, N, Splice, Mis		ETP ALL								0	0	0	0	1	1	0.812585	3	50	0	37	1	3.441754e-01	8	9	0	37	1
FAM122B	159090	broad.mit.edu	37	X	133922766	133922766	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:133922766G>A	ENST00000370790.1	-	5	1300	c.372C>T	c.(370-372)ttC>ttT	p.F124F	FAM122B_ENST00000486347.1_Silent_p.F124F|FAM122B_ENST00000298090.6_Silent_p.F143F|FAM122B_ENST00000343004.5_Silent_p.F143F|FAM122B_ENST00000493333.1_5'UTR	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	9	35	0	55	124										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					CTACCTTTCCGAATCCCCTGG	0.398000													1	1	1	1	1	1	0.998925	11	43	0	64	0	9.983249e-01	0	49	0	64	5
FAM122C	159091	broad.mit.edu	37	X	133988254	133988254	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:133988254A>G	ENST00000370784.4	+	7	982	c.576A>G	c.(574-576)caA>caG	p.Q192Q	FAM122C_ENST00000445123.1_3'UTR|FAM122C_ENST00000370785.3_3'UTR	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C	8	10	0	23	192										endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					CTAGTAGACAAACTTTCAACT	0.418000													0	0	1	0	0	1	0.994961	8	10	0	23	1	5.962733e-01	4	0	0	23	1
ZNF75D	7626	broad.mit.edu	37	X	134427749	134427749	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134427749C>A	ENST00000370766.3	-	3	3027	c.318G>T	c.(316-318)caG>caT	p.Q106H	ZNF75D_ENST00000370764.1_Missense_Mutation_p.Q106H|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	36	82	0	78	106	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCACCCAGTTCTGGGTCTCCT	0.502000													1	1	1	1	1	1	1.000000	38	88	0	80	0	2.238372e-01	0	3	0	80	5
ZNF449	203523	broad.mit.edu	37	X	134494128	134494128	+	Silent	SNP	C	C	T	rs144200813		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134494128C>T	ENST00000339249.4	+	5	824	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	22	36	0	53	228					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTGAGATCGGGATAGAAA	0.363000													1	1	1	1	1	1	1.000000	22	40	0	54	0	0	0	0	0	54	5
ZNF449	203523	broad.mit.edu	37	X	134494612	134494612	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134494612C>T	ENST00000339249.4	+	5	1308	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	43	80	0	134	390					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCGATTCACTCGGCGGTCACA	0.413000													1	1	1	1	1	1	1.000000	50	93	0	147	0	0	0	1	0	147	5
DDX26B	203522	broad.mit.edu	37	X	134713730	134713730	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134713730G>T	ENST00000370752.4	+	15	2360	c.2026G>T	c.(2026-2028)Gat>Tat	p.D676Y	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	19	50	0	78	676										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TATCATTCACGATGGCCATGA	0.428000													1	1	1	1	1	1	0.999999	21	57	0	88	1	9.443866e-01	16	0	0	88	5
DDX26B	203522	broad.mit.edu	37	X	134714991	134714991	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134714991C>A	ENST00000370752.4	+	16	2734	c.2400C>A	c.(2398-2400)ttC>ttA	p.F800L	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	5	13	0	11	800										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGAATTTTCATTTTGCTTG	0.308000													0	0	1	0	1	1	0.946083	5	16	0	11	1	8.918919e-01	14	2	0	11	2
SAGE1	55511	broad.mit.edu	37	X	134991921	134991921	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:134991921T>C	ENST00000535938.1	+	14	1873	c.1706T>C	c.(1705-1707)aTg>aCg	p.M569T	SAGE1_ENST00000537770.1_Missense_Mutation_p.M193T|SAGE1_ENST00000324447.3_Missense_Mutation_p.M569T|SAGE1_ENST00000370709.3_Missense_Mutation_p.M569T	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	17	114	0	149	569										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATTCCGGCCATGAGTACCAGG	0.413000													1	1	1	1	1	1	0.999976	17	124	0	163	0	9.374807e-01	0	37	0	163	5
SLC9A6	10479	broad.mit.edu	37	X	135104832	135104832	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135104832T>G	ENST00000370695.4	+	11	1473	c.1438T>G	c.(1438-1440)Ttt>Gtt	p.F480V	SLC9A6_ENST00000370701.1_Missense_Mutation_p.F428V|SLC9A6_ENST00000370698.3_Missense_Mutation_p.F448V	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	11	33	0	46	448					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGGATCAAATTTTCAACACAT	0.378000													1	1	1	1	1	1	0.999518	12	37	0	49	0	4.716365e-01	0	6	0	49	5
GPR112	139378	broad.mit.edu	37	X	135426790	135426790	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135426790G>T	ENST00000394143.1	+	6	1216	c.925G>T	c.(925-927)Gag>Tag	p.E309*	GPR112_ENST00000412101.1_Nonsense_Mutation_p.E104*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.E104*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.E246*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.E309*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	17	66	0	98	309					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTGGTAGATGAGACAGCTAC	0.368000													1	1	1	1	1	1	0.999992	18	67	0	111	0	0	0	0	0	111	5
GPR112	139378	broad.mit.edu	37	X	135430316	135430316	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135430316G>T	ENST00000394143.1	+	6	4742	c.4451G>T	c.(4450-4452)aGg>aTg	p.R1484M	GPR112_ENST00000412101.1_Missense_Mutation_p.R1279M|GPR112_ENST00000394141.1_Missense_Mutation_p.R1279M|GPR112_ENST00000287534.4_Missense_Mutation_p.R1421M|GPR112_ENST00000370652.1_Missense_Mutation_p.R1484M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	13	114	0	129	1484					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTCTCCGACAGGATCACTACA	0.443000													1	1	1	1	1	1	0.999903	15	122	0	144	0	0	0	0	0	144	5
BRS3	680	broad.mit.edu	37	X	135570694	135570694	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135570694C>A	ENST00000370648.3	+	1	649	c.421C>A	c.(421-423)Ctc>Atc	p.L141I		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	27	50	0	84	141					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATTAACAATTCTCAGCGCTGA	0.428000													1	1	1	1	1	1	1.000000	28	51	0	89	0	0	0	0	0	89	5
CD40LG	959	broad.mit.edu	37	X	135741501	135741501	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135741501T>G	ENST00000370629.2	+	5	769	c.713T>G	c.(712-714)tTt>tGt	p.F238C	CD40LG_ENST00000370628.2_Missense_Mutation_p.F217C	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	63	125	0	208	238					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	GCTTCGGTGTTTGTCAATGTG	0.502000									Immune Deficiency with Hyper-IgM				1	1	1	1	1	1	1.000000	67	129	0	213	0	0	0	0	0	213	5
ARHGEF6	9459	broad.mit.edu	37	X	135757212	135757212	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135757212G>A	ENST00000250617.6	-	19	3194	c.1989C>T	c.(1987-1989)atC>atT	p.I663I	ARHGEF6_ENST00000370620.1_Silent_p.I509I|ARHGEF6_ENST00000370622.1_Silent_p.I509I|ARHGEF6_ENST00000535227.1_Silent_p.I536I	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	9	19	0	39	663					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			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGTAGGCTTCGATCACTTTAA	0.413000													1	1	1	1	1	1	0.998508	10	19	0	42	0	2.943548e-01	0	3	0	42	5
ARHGEF6	9459	broad.mit.edu	37	X	135764991	135764991	+	Missense_Mutation	SNP	G	G	A	rs147323188		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135764991G>A	ENST00000250617.6	-	13	2610	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.R315W|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.R315W|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.R342W	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	13	21	0	46	469	PH.				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			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATAAGGTACCGCTCCTCTTTT	0.343000													1	1	1	1	1	1	0.999927	14	24	0	49	0	0	0	1	0	49	5
ARHGEF6	9459	broad.mit.edu	37	X	135827455	135827455	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135827455T>G	ENST00000250617.6	-	4	1591	c.386A>C	c.(385-387)aAt>aCt	p.N129T	ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	74	121	0	238	129					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			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTGAGAAGTATTAGCAGCACT	0.448000													1	1	1	1	1	1	1.000000	78	128	0	261	0	0	0	1	0	261	5
RBMX	27316	broad.mit.edu	37	X	135961190	135961190	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:135961190C>A	ENST00000562646.1	-	3	356	c.202G>T	c.(202-204)Gac>Tac	p.D68Y	RBMX_ENST00000320676.7_Missense_Mutation_p.D68Y|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000431446.3_Missense_Mutation_p.D68Y|RBMX_ENST00000570135.1_5'UTR			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	34	75	0	112	68	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCATTCATGTCTCTGGCTGCA	0.413000													1	1	1	1	1	1	1.000000	37	81	0	122	0	0	0	1	0	122	5
GPR101	83550	broad.mit.edu	37	X	136112733	136112733	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:136112733G>A	ENST00000298110.1	-	1	1100	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	47	127	0	177	367						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCACTGCCTCGACGTCATCCT	0.537000													1	1	1	1	1	1	1.000000	49	132	0	183	0	0	0	0	0	183	5
ATP11C	286410	broad.mit.edu	37	X	138880864	138880864	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:138880864G>A	ENST00000370557.1	-	9	1776	c.749C>T	c.(748-750)aCg>aTg	p.T250M	ATP11C_ENST00000359686.2_Missense_Mutation_p.T253M|ATP11C_ENST00000327569.3_Missense_Mutation_p.T253M|ATP11C_ENST00000370543.1_Missense_Mutation_p.T253M|ATP11C_ENST00000361648.2_Missense_Mutation_p.T253M			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	21	39	0	47	253					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ATTTTTTAGCGTAGCTCCTTT	0.338000													1	1	1	1	1	1	1.000000	23	44	0	55	0	4.325956e-01	0	4	0	55	5
ATP11C	286410	broad.mit.edu	37	X	138901568	138901568	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:138901568G>T	ENST00000370557.1	-	3	1193	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	ATP11C_ENST00000359686.2_Missense_Mutation_p.L59I|ATP11C_ENST00000327569.3_Missense_Mutation_p.L59I|ATP11C_ENST00000370543.1_Missense_Mutation_p.L59I|ATP11C_ENST00000361648.2_Missense_Mutation_p.L59I			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	5	19	0	30	59					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTGGGAGAAAATTCCAA	0.323000													1	0	1	1	1	1	0.944310	5	21	0	34	0	5.172414e-02	0	2	0	34	4
CXorf66	347487	broad.mit.edu	37	X	139038459	139038459	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:139038459A>G	ENST00000370540.1	-	3	705	c.682T>C	c.(682-684)Tcc>Ccc	p.S228P		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	70	124	0	190	228						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						AATGGCTTGGATGGTGAGATT	0.453000													1	0	1	1	1	1	1.000000	82	137	0	207	0	0	0	0	0	207	4
CDR1	1038	broad.mit.edu	37	X	139865861	139865861	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:139865861C>T	ENST00000370532.2	-	1	862	c.671G>A	c.(670-672)cGt>cAt	p.R224H		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	75	110	0	179	224								p.R224H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				GAAAAATCTACGTCTTCCACC	0.448000													1	1	1	1	1	1	1.000000	82	117	0	190	0	0	0	0	0	190	5
MAGEC3	139081	broad.mit.edu	37	X	140984575	140984575	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:140984575C>T	ENST00000544766.1	+	5	664	c.137C>T	c.(136-138)tCt>tTt	p.S46F	MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000409007.1_Missense_Mutation_p.S46F|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.S46F|MAGEC3_ENST00000483584.1_3'UTR	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	27	48	0	81	440										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					tcctcttcctctttccacttt	0.512000													1	1	1	1	1	1	1.000000	27	50	0	81	0	0	0	0	0	81	5
MAGEC1	9947	broad.mit.edu	37	X	140996502	140996502	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:140996502G>T	ENST00000285879.4	+	4	3598	c.3312G>T	c.(3310-3312)aaG>aaT	p.K1104N	MAGEC1_ENST00000406005.2_Missense_Mutation_p.K171N	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	62	85	0	149	1104	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTTACAAGGATGCTTTGA	0.463000										HNSCC(15;0.026)			1	1	1	1	1	1	1.000000	67	91	0	159	0	0	0	0	0	159	5
MAGEC1	9947	broad.mit.edu	37	X	140996562	140996562	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:140996562G>A	ENST00000285879.4	+	4	3658	c.3372G>A	c.(3370-3372)tcG>tcA	p.S1124S	MAGEC1_ENST00000406005.2_Silent_p.S191S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	32	72	0	109	1124							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATGATTCGACTGCCACAG	0.483000										HNSCC(15;0.026)			1	1	1	1	1	1	1.000000	34	82	0	121	0	0	0	0	0	121	5
MAGEC2	51438	broad.mit.edu	37	X	141291545	141291545	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:141291545G>A	ENST00000247452.3	-	3	576	c.229C>T	c.(229-231)Cca>Tca	p.P77S		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	22	59	0	91	77						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTAAGATTTGGTATCACACCA	0.517000										HNSCC(46;0.14)			1	1	1	1	1	1	1.000000	22	63	0	91	0	0	0	0	0	91	5
MAGEC2	51438	broad.mit.edu	37	X	141291629	141291629	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:141291629C>A	ENST00000247452.3	-	3	492	c.145G>T	c.(145-147)Gta>Tta	p.V49L		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	65	118	0	195	49	Ser-rich.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAAAATACTAAGTACAAA	0.517000										HNSCC(46;0.14)			1	1	1	1	1	1	1.000000	71	127	0	210	0	0	0	0	0	210	5
SPANXN1	494118	broad.mit.edu	37	X	144337190	144337190	+	Splice_Site	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:144337190G>T	ENST00000370493.3	+	2	834		c.e2-1			NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	22	71	0	59									p.?(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTTAACAGATGCAGGAGA	0.443000													1	1	1	1	1	1	1.000000	22	73	0	60	0	0	0	0	0	60	5
SPANXN1	494118	broad.mit.edu	37	X	144337199	144337199	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:144337199G>A	ENST00000370493.3	+	2	843	c.84G>A	c.(82-84)gaG>gaA	p.E28E		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	24	67	0	61	28										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGCAGGAGACACCAAACA	0.423000													1	1	1	1	1	1	1.000000	25	69	0	64	0	0	0	0	0	64	5
FMR1	2332	broad.mit.edu	37	X	147030228	147030228	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:147030228G>T	ENST00000370471.3	+	16	1721	c.1492G>T	c.(1492-1494)Gga>Tga	p.G498*	FMR1_ENST00000370477.1_Intron|FMR1_ENST00000439526.2_Intron|FMR1_ENST00000218200.8_Missense_Mutation_p.R567M|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000440235.2_Intron|FMR1_ENST00000370475.4_Missense_Mutation_p.R588M	NM_001185075.1|NM_001185081.1	NP_001172004.1|NP_001172010.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	8	84	0	68	608	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AATAATGAAAGGAGTGTCCAC	0.403000									Fragile X syndrome				1	1	1	1	0	1	0.990393	8	88	0	73	0	5.862841e-01	0	14	0	73	4
AFF2	2334	broad.mit.edu	37	X	147924957	147924957	+	Splice_Site	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:147924957C>A	ENST00000370460.2	+	7	1741	c.1262_splice	c.e7+1	p.S421_splice	AFF2_ENST00000370457.5_Splice_Site_p.S388_splice|AFF2_ENST00000286437.5_Splice_Site_p.S62_splice|AFF2_ENST00000370458.1_Intron|AFF2_ENST00000342251.3_Splice_Site_p.S388_splice	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	24	43	0	68	421					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTTCAAATCGTGAGTAGTT	0.408000													1	1	1	1	1	1	1.000000	25	49	0	76	0	0	0	0	0	76	5
MAGEA11	4110	broad.mit.edu	37	X	148797840	148797840	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:148797840T>G	ENST00000355220.5	+	5	796	c.694T>G	c.(694-696)Tta>Gta	p.L232V	MAGEA11_ENST00000333104.4_Missense_Mutation_p.L203V	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	47	88	0	141	232	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TTTGGTTCATTTATTGCTCCG	0.438000													1	1	1	1	1	1	1.000000	49	93	0	149	0	2.793851e-01	0	3	0	149	5
MAGEA8	4107	broad.mit.edu	37	X	149013420	149013420	+	Missense_Mutation	SNP	G	G	A	rs150893284		TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149013420G>A	ENST00000535454.1	+	4	923	c.374G>A	c.(373-375)cGc>cAc	p.R125H	MAGEA8_ENST00000286482.1_Missense_Mutation_p.R125H|MAGEA8_ENST00000542674.1_Missense_Mutation_p.R125H	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	51	110	0	120	125	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGCTCCGCAAATATCAA	0.498000													1	1	1	1	1	1	1.000000	53	116	0	130	0	0	0	0	0	130	5
MAMLD1	10046	broad.mit.edu	37	X	149638113	149638113	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149638113G>T	ENST00000370401.2	+	4	578	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	MAMLD1_ENST00000426613.2_Missense_Mutation_p.D65Y|MAMLD1_ENST00000432680.2_Missense_Mutation_p.D65Y|MAMLD1_ENST00000262858.5_Missense_Mutation_p.D90Y|MAMLD1_ENST00000468306.1_3'UTR			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	45	99	0	183	90					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCTTGAAGATGTCACCCT	0.502000													1	1	1	1	1	1	1.000000	53	111	0	208	0	0	0	0	0	208	5
MTM1	4534	broad.mit.edu	37	X	149764986	149764986	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149764986G>T	ENST00000370396.2	+	3	142	c.88G>T	c.(88-90)Gat>Tat	p.D30Y	MTM1_ENST00000413012.2_Missense_Mutation_p.D30Y|MTM1_ENST00000543350.1_5'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000542741.1_5'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	15	18	0	44	30	GRAM.				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			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AGTCAATCGAGATCTCACTGA	0.428000													1	1	1	1	1	1	0.999998	18	21	0	49	1	7.494350e-01	4	1	0	49	5
MTMR1	8776	broad.mit.edu	37	X	149899985	149899985	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	G	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149899985A>G	ENST00000445323.2	+	9	906	c.785A>G	c.(784-786)aAt>aGt	p.N262S	MTMR1_ENST00000451863.2_Missense_Mutation_p.N254S|MTMR1_ENST00000541925.1_Missense_Mutation_p.N160S|MTMR1_ENST00000544228.1_Missense_Mutation_p.N254S|MTMR1_ENST00000538506.1_Missense_Mutation_p.N141S|MTMR1_ENST00000542156.1_Missense_Mutation_p.N254S|MTMR1_ENST00000370390.3_Missense_Mutation_p.N254S			Q13613	MTMR1_HUMAN	myotubularin related protein 1	31	66	0	92	254	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAACAGTAATTATGAGTTC	0.398000													1	1	1	1	1	1	1.000000	32	70	0	98	0	9.936064e-01	0	21	0	98	5
CD99L2	83692	broad.mit.edu	37	X	149983348	149983348	+	Silent	SNP	A	A	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:149983348A>G	ENST00000370377.3	-	4	381	c.264T>C	c.(262-264)ggT>ggC	p.G88G	CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Silent_p.G88G	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	49	97	0	174	88					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTCCTATACCCGGTTTCC	0.473000													1	1	1	1	1	1	1.000000	54	105	0	200	1	9.239989e-01	7	4	0	200	5
HMGB3	3149	broad.mit.edu	37	X	150154631	150154631	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:150154631G>A	ENST00000325307.7	+	3	354	c.258G>A	c.(256-258)aaG>aaA	p.K86K	HMGB3_ENST00000448905.2_Silent_p.K86K	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	11	26	0	37	86					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCAAGAAGAAGAAGGATC	0.408000													0	1	1	1	1	1	0.999594	12	28	0	39	0	1	0	175	0	39	4
MAGEA4	4103	broad.mit.edu	37	X	151093031	151093031	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151093031C>T	ENST00000360243.2	+	3	1162	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MAGEA4_ENST00000370335.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000393920.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R299C|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R299C|MAGEA4_ENST00000370340.3_Missense_Mutation_p.R299C|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R299C	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	67	142	0	214	299	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGAGTTCGCATTGCCTA	0.567000													1	1	1	1	1	1	1.000000	72	149	0	232	0	0	0	0	0	232	5
GABRA3	2556	broad.mit.edu	37	X	151358217	151358217	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151358217C>A	ENST00000370314.4	-	9	1366	c.1128G>T	c.(1126-1128)gaG>gaT	p.E376D	GABRA3_ENST00000370311.1_Missense_Mutation_p.E376D|GABRA3_ENST00000497894.1_5'UTR|GABRA3_ENST00000535043.1_Missense_Mutation_p.E376D	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	33	46	0	74	376					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			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTCCAGGGCCTCTGGCACCT	0.502000													1	1	1	1	1	1	1.000000	35	48	0	91	0	0	0	0	0	91	5
GABRA3	2556	broad.mit.edu	37	X	151424408	151424408	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151424408G>A	ENST00000370314.4	-	5	631	c.393C>T	c.(391-393)ggC>ggT	p.G131G	GABRA3_ENST00000370311.1_Silent_p.G131G|GABRA3_ENST00000535043.1_Silent_p.G131G	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	27	83	0	98	131					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			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTTCATGGGGCCATCAAATT	0.428000													1	1	1	1	1	1	1.000000	30	86	0	105	0	0	0	0	0	105	5
MAGEA6	4105	broad.mit.edu	37	X	151869775	151869775	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151869775C>T	ENST00000329342.5	+	3	690	c.465C>T	c.(463-465)tcC>tcT	p.S155S		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	46	126	0	149	155	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCAAAGCTTCCGATTCCTTGC	0.552000													1	1	1	1	1	1	1.000000	47	133	0	151	0	0	0	0	0	151	5
MAGEA3	4102	broad.mit.edu	37	X	151935896	151935896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:151935896C>A	ENST00000393902.3	-	3	838	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	MAGEA3_ENST00000370278.3_Nonsense_Mutation_p.E91*			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	49	88	0	150	91										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCCTCTTCTTGGTTGCTG	0.567000													1	1	1	1	0	1	1.000000	51	90	0	113	0	0	0	0	0	113	4
PNMA5	114824	broad.mit.edu	37	X	152159547	152159547	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152159547C>T	ENST00000439251.1	-	2	1034	c.596G>A	c.(595-597)cGt>cAt	p.R199H	PNMA5_ENST00000535214.1_Missense_Mutation_p.R199H|PNMA5_ENST00000361887.5_Missense_Mutation_p.R199H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R199H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	32	84	0	112	199					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAGCAAACGCCGCCTCTT	0.557000													1	1	1	1	1	1	1.000000	35	90	0	124	0	0	0	0	0	124	5
PNMA3	29944	broad.mit.edu	37	X	152226514	152226514	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152226514C>A	ENST00000447306.1	+	2	1438	c.1102C>A	c.(1102-1104)Ctc>Atc	p.L368I	PNMA3_ENST00000370265.4_Missense_Mutation_p.L368I|PNMA3_ENST00000370264.4_Missense_Mutation_p.L368I	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	10	60	0	65	368					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GGCAGTACCTCTCCCTGCCTC	0.637000													1	1	1	1	1	1	0.997550	10	64	0	71	0	1.598696e-01	0	5	0	71	5
MAGEA1	4100	broad.mit.edu	37	X	152482977	152482977	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152482977G>A	ENST00000356661.5	-	3	252	c.34C>T	c.(34-36)Cct>Tct	p.P12S		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	14	119	0	140	12						cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCCTCAGGCTTGCAGTGC	0.627000													1	0	1	1	1	1	0.988834	15	128	1	149	0	0	0	0	1	149	4
ATP2B3	492	broad.mit.edu	37	X	152845520	152845520	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152845520G>A	ENST00000263519.4	+	20	3553	c.3427G>A	c.(3427-3429)Gcc>Acc	p.A1143T	ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000349466.2_Missense_Mutation_p.A1143T	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	92	220	0	309	1143					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACTTCATGGCCACGCCCGA	0.592000													1	1	1	1	1	1	1.000000	100	240	0	340	0	0	0	0	0	340	5
PNCK	139728	broad.mit.edu	37	X	152936421	152936421	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:152936421C>T	ENST00000393831.2	-	9	1261	c.827G>A	c.(826-828)cGa>cAa	p.R276Q	PNCK_ENST00000370142.1_Missense_Mutation_p.R276Q|PNCK_ENST00000447676.2_Missense_Mutation_p.R336Q|PNCK_ENST00000370145.4_Missense_Mutation_p.R270Q|PNCK_ENST00000340888.3_Missense_Mutation_p.R253Q|PNCK_ENST00000370150.1_Missense_Mutation_p.R253Q	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	40	73	0	111	253						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGGTCTCGCTCCAGAAG	0.642000													1	1	1	1	1	1	1.000000	42	78	0	124	0	8.259435e-01	0	8	0	124	5
SSR4	6748	broad.mit.edu	37	X	153063544	153063544	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153063544G>A	ENST00000320857.3	+	6	1454	c.370G>A	c.(370-372)Gac>Aac	p.D124N	SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370087.1_Missense_Mutation_p.D124N|SSR4_ENST00000370085.3_Missense_Mutation_p.D99N|SSR4_ENST00000370086.3_Missense_Mutation_p.D124N	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	66	151	0	256	124					intracellular protein transport	integral to membrane|Sec61 translocon complex	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(2)	4	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)					GAATAACGAGGACATTTCCAT	0.602000													1	1	1	1	1	1	1.000000	75	159	0	266	1	1	7	1378	0	266	5
L1CAM	3897	broad.mit.edu	37	X	153135092	153135092	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153135092T>C	ENST00000370060.1	-	11	1339	c.1150A>G	c.(1150-1152)Att>Gtt	p.I384V	L1CAM_ENST00000538883.1_Missense_Mutation_p.I386V|L1CAM_ENST00000543994.1_Missense_Mutation_p.I386V|L1CAM_ENST00000370057.3_Missense_Mutation_p.I384V|L1CAM_ENST00000361699.4_Missense_Mutation_p.I384V|L1CAM_ENST00000370055.1_Missense_Mutation_p.I379V|L1CAM_ENST00000361981.3_Missense_Mutation_p.I379V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	3	32	0	34	384	Ig-like C2-type 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	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)					CCACGCTGAATCCGGTACTTC	0.632000													0	0	1	1	1	1	0.894057	4	33	0	36	0	8.940575e-01	0	37	0	36	3
NAA10	8260	broad.mit.edu	37	X	153195617	153195617	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153195617C>A	ENST00000464845.1	-	8	849	c.531G>T	c.(529-531)gaG>gaT	p.E177D	NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000370009.1_Missense_Mutation_p.E162D|NAA10_ENST00000370015.4_3'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	31	58	0	114	177					DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						CCACCTTGTTCTCGATGGCAC	0.627000													1	1	1	1	1	1	1.000000	35	64	0	118	1	1	46	258	0	118	5
RENBP	5973	broad.mit.edu	37	X	153207461	153207461	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153207461C>A	ENST00000393700.3	-	7	791	c.711G>T	c.(709-711)gaG>gaT	p.E237D	RENBP_ENST00000369997.3_Missense_Mutation_p.E223D|RENBP_ENST00000412763.1_Intron	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	53	94	0	163	237					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	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)	CTGACACATTCTCCAGCACAG	0.627000													1	1	1	1	1	1	1.000000	59	108	0	181	1	9.683906e-01	4	9	0	181	5
HCFC1	3054	broad.mit.edu	37	X	153220472	153220472	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153220472G>A	ENST00000310441.7	-	17	4344	c.3378C>T	c.(3376-3378)agC>agT	p.S1126S	HCFC1_ENST00000354233.3_Silent_p.S1057S|HCFC1_ENST00000369984.4_Silent_p.S1126S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	14	30	0	36	1126					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			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	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)					TGGCGCCGACGCTCGACATGG	0.687000													1	1	1	1	1	1	0.999998	19	40	0	39	1	9.999793e-01	7	40	0	39	5
HCFC1	3054	broad.mit.edu	37	X	153227718	153227718	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153227718G>A	ENST00000310441.7	-	5	1718	c.752C>T	c.(751-753)gCg>gTg	p.A251V	HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000354233.3_Missense_Mutation_p.A251V|HCFC1_ENST00000369984.4_Missense_Mutation_p.A251V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	13	20	0	34	251					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			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	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)					AGGAAGAGGCGCCACCCCGCT	0.597000													1	1	1	1	1	1	0.999986	16	25	0	41	0	9.865508e-01	1	14	0	41	5
FLNA	0	broad.mit.edu	37	X	153581372	153581372	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153581372C>T	ENST00000422373.1	-	37	6447	c.6199G>A	c.(6199-6201)Gca>Aca	p.A2067T	FLNA_ENST00000344736.4_Missense_Mutation_p.A2035T|FLNA_ENST00000360319.4_Missense_Mutation_p.A2067T|FLNA_ENST00000369856.3_Missense_Mutation_p.A208T|FLNA_ENST00000369850.3_Missense_Mutation_p.A2075T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	7	51	0	53	2075					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)					TGCCTACCTGCATCGCGGGTA	0.602000													1	1	1	1	1	1	0.990952	8	56	0	54	1	1	2	675	0	54	5
ATP6AP1	537	broad.mit.edu	37	X	153663731	153663731	+	Silent	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153663731C>T	ENST00000369762.2	+	9	1144	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	27	58	0	62	361					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	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)					CTTCCCAGGTCACAGGGCCCA	0.612000													1	1	1	1	1	1	1.000000	29	63	0	65	0	1	1	365	0	65	5
PLXNA3	55558	broad.mit.edu	37	X	153692557	153692557	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153692557G>A	ENST00000369682.3	+	8	1904	c.1729G>A	c.(1729-1731)Gag>Aag	p.E577K		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	14	22	0	30	577					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.E577K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	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)					CTGCGCCTTCGAGGCGGCGGC	0.697000													1	1	1	1	1	1	0.999987	16	23	0	31	0	9.609534e-01	0	11	0	31	5
PLXNA3	55558	broad.mit.edu	37	X	153697246	153697246	+	Silent	SNP	G	G	A	rs140777906	byFrequency	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:153697246G>A	ENST00000369682.3	+	25	4543	c.4368G>A	c.(4366-4368)acG>acA	p.T1456T		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	26	73	0	98	1456					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	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)					ATGCCATCACGGGCGAGGCAC	0.617000													1	1	1	1	1	1	1.000000	27	83	0	110	0	9.844233e-01	0	24	0	110	5
DKC1	1736	broad.mit.edu	37	X	154004474	154004474	+	Missense_Mutation	SNP	A	A	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			A	C	A	A		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154004474A>C	ENST00000369550.5	+	14	1561	c.1351A>C	c.(1351-1353)Agt>Cgt	p.S451R	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	22	48	0	65	451	Nuclear and nucleolar localization.				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			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	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)					GAAGCGAGAGAGTGAGAGTGA	0.458000									Congenital Dyskeratosis				1	1	1	1	1	1	1.000000	24	58	0	70	0	1	1	130	0	70	5
MPP1	4354	broad.mit.edu	37	X	154007592	154007592	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154007592C>T	ENST00000413259.3	-	13	1563	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	MPP1_ENST00000369534.3_Missense_Mutation_p.A421T|MPP1_ENST00000393531.1_Missense_Mutation_p.A401T	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	20	57	0	76	421	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	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)					CTGCGGATGGCCTCAGAGTCC	0.527000													1	1	1	1	1	1	0.999998	20	59	0	88	1	9.744815e-01	3	18	0	88	5
F8	2157	broad.mit.edu	37	X	154157019	154157019	+	Silent	SNP	G	G	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154157019G>A	ENST00000360256.4	-	14	5246	c.5046C>T	c.(5044-5046)gaC>gaT	p.D1682D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	24	35	0	60	1682					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			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	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)	TATCATCATAGTCAATTTCCT	0.413000													1	1	1	1	1	1	1.000000	25	36	0	64	0	5.435065e-01	1	3	0	64	5
F8	2157	broad.mit.edu	37	X	154158062	154158062	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154158062T>C	ENST00000360256.4	-	14	4203	c.4003A>G	c.(4003-4005)Aaa>Gaa	p.K1335E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	49	80	0	118	1335	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			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	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)	CTGAATTGTTTCAAAGCTCTC	0.398000													1	1	1	1	1	1	1.000000	53	85	0	129	0	0	0	0	0	129	5
BRCC3	79184	broad.mit.edu	37	X	154319106	154319106	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154319106G>T	ENST00000369462.1	+	7	565	c.540G>T	c.(538-540)aaG>aaT	p.K180N	MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000340647.4_Missense_Mutation_p.K181N|BRCC3_ENST00000330045.7_Missense_Mutation_p.K180N|BRCC3_ENST00000369459.2_Missense_Mutation_p.K180N|BRCC3_ENST00000399042.1_Missense_Mutation_p.K180N	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	4	13	0	15	180					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	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)					AGGCCCAAAAGAGTTCAGAGT	0.353000													1	0	1	1	1	1	0.973097	6	15	0	17	0	9.770260e-01	0	21	0	17	4
TMLHE	55217	broad.mit.edu	37	X	154741450	154741450	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			T	G	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:154741450T>G	ENST00000334398.3	-	5	787	c.642A>C	c.(640-642)gaA>gaC	p.E214D	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.E214D	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	35	71	0	106	214					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			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	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)	CATAAATGGTTTCTCTGTTAG	0.393000													1	1	1	1	1	1	1.000000	39	77	0	111	0	9.951478e-01	0	20	0	111	5
LRIF1	55791	broad.mit.edu	37	1	111494605	111494606	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr1:111494605_111494606insA	ENST00000369763.4	-	2	1290_1291	c.900_901insT	c.(898-903)ttcgccfs	p.A301fs	LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	14	52	0	59	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AGAGATGGCGTAAAAGGCTGTA	0.337000													1	1	1	1	0	1	0.999846	14	68	0	60	0	9.207339e-01	0	24	0	60	4
ATAD2B	54454	broad.mit.edu	37	2	23980888	23980889	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:23980888_23980889insT	ENST00000238789.5	-	25	3820_3821	c.3477_3478insA	c.(3475-3480)aaatgafs	p.*1160fs	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	12	34	0	43	1160							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTCTTCATCTTTTTTTAAAT	0.386000													1	1	1	0	0	1	0.999455	12	47	0	43	0	1.214525e-01	0	3	0	43	3
HSPD1	3329	broad.mit.edu	37	2	198359410	198359411	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr2:198359410_198359411insT	ENST00000388968.3	-	5	843_844	c.576_577insA	c.(574-579)aattggfs	p.NW192fs	HSPD1_ENST00000345042.2_Frame_Shift_Ins_p.NW192fs	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	15	35	0	57	192					'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			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TTTCTTCCAACTTTTTTCATTG	0.327000													1	1	1	1	0	1	0.999937	15	51	0	59	1	1	20	506	0	59	4
ZNF608	57507	broad.mit.edu	37	5	123984088	123984089	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:123984088_123984089insT	ENST00000306315.5	-	4	2423_2424	c.1988_1989insA	c.(1987-1989)aaafs	p.K663fs	ZNF608_ENST00000504926.1_Frame_Shift_Ins_p.K236fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	33	77	0	110	663						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		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)		TAAGGCCCTTCTTTTTGCCAGA	0.510000													1	1	1	1	0	1	1.000000	33	113	0	115	1	9.613494e-01	3	18	0	115	4
KIF4B	285643	broad.mit.edu	37	5	154396021	154396021	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr5:154396021delA	ENST00000435029.4	+	1	2762	c.2602delA	c.(2602-2604)aafs	p.K868fs		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	25	46	0	77	868	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTGTGCCCTGAAATATTTGAT	0.473000													1	1	1	1	0	1	1.000000	25	71	0	77	0	7.235622e-02	0	2	0	77	4
DOCK4	9732	broad.mit.edu	37	7	111580272	111580273	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr7:111580272_111580273insT	ENST00000428084.1	-	11	1141_1142	c.869_870insA	c.(868-870)aaafs	p.K290fs	DOCK4_ENST00000437633.1_Frame_Shift_Ins_p.K290fs|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	49	69	0	159	290					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			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TACAGGCATTCTTTTTTTCTCC	0.450000													1	1	0	1	0	1	1.000000	49	121	0	163	0	8.569700e-02	0	2	0	163	3
MYOZ1	58529	broad.mit.edu	37	10	75393727	75393728	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr10:75393727_75393728insT	ENST00000359322.4	-	5	962_963	c.598_599insA	c.(598-600)ggafs	p.G200fs		NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN	myozenin 1	25	67	0	102	200					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GCCAAGTTCCATTTTTTGCTGG	0.515000													1	1	1	1	0	1	1.000000	25	94	0	106	0	0	0	1	0	106	4
TSPAN8	7103	broad.mit.edu	37	12	71523156	71523157	+	Frame_Shift_Ins	INS	-	-	T	rs139952436	by1000genomes	TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr12:71523156_71523157insT	ENST00000393330.2	-	11	1166_1167	c.614_615insA	c.(613-615)attfs	p.I205fs	TSPAN8_ENST00000546561.1_Frame_Shift_Ins_p.I205fs|TSPAN8_ENST00000247829.3_Frame_Shift_Ins_p.I205fs|TSPAN8_ENST00000552128.1_Frame_Shift_Ins_p.I122fs			P19075	TSN8_HUMAN	tetraspanin 8	6	19	0	30	205					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			CTATAATCAAATTTTTTGCCAA	0.267000													1	0	1	0	0	1	0.969841	6	28	0	31	1	4.017847e-01	2	5	0	31	2
SPERT	220082	broad.mit.edu	37	13	46276932	46276933	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr13:46276932_46276933insA	ENST00000310521.1	+	2	178_179	c.98_99insA	c.(97-99)aaafs	p.K33fs		NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	8	22	0	46	33						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		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)		AATTATACAAGAAAAAGAGATA	0.426000													1	0	1	1	0	1	0.992080	8	30	0	47							3
MAP2K4	6416	broad.mit.edu	37	17	11998922	11998923	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr17:11998922_11998923insA	ENST00000415385.3	+	5	510_511	c.457_458insA	c.(457-459)aaafs	p.K153fs	MAP2K4_ENST00000353533.5_Frame_Shift_Ins_p.K142fs			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	19	51	0	62	142	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.0?(10)|p.Q142L(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		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)		TGAAAAAGAACAAAAACAACTT	0.337000			D, Mis, N		pancreatic, breast, colorectal								1	1	1	1	0	1	0.999996	19	70	0	63	1	9.252722e-01	3	16	0	63	4
GINS1	9837	broad.mit.edu	37	20	25405867	25405868	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:25405867_25405868insA	ENST00000262460.4	+	5	445_446	c.351_352insA	c.(349-354)taaaagfs	p.*K117fs	GINS1_ENST00000429262.2_Frame_Shift_Ins_p.K158fs	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	17	25	0	37	117					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						TTAATAATTATAAAAGATCTCT	0.347000													1	1	1	1	0	1	0.999988	17	42	0	37	1	9.299872e-01	2	12	0	37	4
CTCFL	140690	broad.mit.edu	37	20	56093849	56093850	+	Frame_Shift_Ins	INS	-	-	T			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chr20:56093849_56093850insT	ENST00000426658.2	-	4	1684_1685	c.1023_1024insA	c.(1021-1026)ccttaafs	p.*342fs	CTCFL_ENST00000423479.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000432255.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000502686.2_Frame_Shift_Ins_p.*80fs|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000243914.3_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000371196.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000433949.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000539382.1_Frame_Shift_Ins_p.*137fs|CTCFL_ENST00000429804.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000422109.2_Frame_Shift_Ins_p.*342fs|CTCFL_ENST00000422869.2_Frame_Shift_Ins_p.*342fs			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	37	95	0	83	342					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			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	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)			GAACATTTAAAGGGTTTCTCAT	0.470000													1	1	1	1	0	1	1.000000	38	134	0	85	1	9.999832e-01	7	57	0	85	4
CHDC2	286464	broad.mit.edu	37	X	36090024	36090025	+	Frame_Shift_Ins	INS	-	-	A			TCGA-ND-A4WC-01A-21D-A28R-08	TCGA-ND-A4WC-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	112e587b-c2ae-4cf2-94c6-9dd3d20e7c17	c1de6b18-0ef6-4116-9c50-3abf60f52e24	g.chrX:36090024_36090025insA	ENST00000378660.1	+	3	314_315	c.126_127insA	c.(124-129)ataaaafs	p.IK42fs	CHDC2_ENST00000313548.4_Frame_Shift_Ins_p.IK42fs					calponin homology domain containing 2	17	29	0	43																		CTGCTTCAATTAAAAAGACATA	0.366000													1	1	1	1	0	1	0.999987	17	46	0	43							4
FLG	2312	broad.mit.edu	37	1	152287054	152287054	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:152287054T>C	ENST00000368799.1	-	3	343	c.308A>G	c.(307-309)aAg>aGg	p.K103R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	11	87	0	70	103					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGACTGTGCTTTCTGTGCTT	0.363000									Ichthyosis				1	1	1	1	1	1	0.998658	11	87	0	73	0	1.544554e-02	1	1	0	73	5
ARHGEF11	9826	broad.mit.edu	37	1	157014118	157014118	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:157014118C>G	ENST00000368194.3	-	1	1044	c.5G>C	c.(4-6)aGt>aCt	p.S2T	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S2T	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	60	49	0	137	2					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			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAACCTTACACTCATGGTTTC	0.433000													1	1	1	1	1	1	1.000000	66	54	0	156	0	5.729450e-01	1	2	0	156	5
DUSP27	92235	broad.mit.edu	37	1	167096275	167096275	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:167096275C>T	ENST00000361200.2	+	6	2073	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	DUSP27_ENST00000443333.1_Missense_Mutation_p.T636M|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.T636M			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	27	28	0	33	636					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCCGGCAGACGCTGGAGGAG	0.632000													1	1	1	1	1	1	1.000000	32	31	0	36	1	9.949521e-01	11	1	0	36	5
HEATR1	55127	broad.mit.edu	37	1	236746150	236746150	+	Silent	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:236746150T>C	ENST00000366582.3	-	19	2562	c.2448A>G	c.(2446-2448)gaA>gaG	p.E816E	HEATR1_ENST00000366581.2_Silent_p.E816E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	21	66	0	65	816					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTTCAGTTGTTCAGGATTCC	0.428000													1	1	1	1	1	1	1.000000	22	71	0	68	1	7.703931e-01	2	9	0	68	5
GCSAML	148823	broad.mit.edu	37	1	247737614	247737614	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr1:247737614T>G	ENST00000366491.2	+	7	775	c.278T>G	c.(277-279)cTt>cGt	p.L93R	RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000463359.1_Missense_Mutation_p.L81R|GCSAML_ENST00000366488.4_Missense_Mutation_p.L113R|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000527541.1_Missense_Mutation_p.L81R|GCSAML_ENST00000366489.1_Missense_Mutation_p.L93R|GCSAML_ENST00000527084.1_Missense_Mutation_p.L81R|GCSAML_ENST00000536561.1_Missense_Mutation_p.L93R					germinal center-associated, signaling and motility-like	18	61	0	71																		TATGCCCTTCTTAGGACTTCT	0.448000													1	1	1	1	1	1	0.999996	19	61	0	78	0	0	0	0	0	78	5
MEMO1	51072	broad.mit.edu	37	2	32108519	32108519	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr2:32108519C>G	ENST00000295065.4	-	7	902	c.593G>C	c.(592-594)cGt>cCt	p.R198P	DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.R175P|MEMO1_ENST00000490459.1_Intron|MEMO1_ENST00000404530.1_Missense_Mutation_p.R198P|MEMO1_ENST00000379383.3_Missense_Mutation_p.R201P	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	61	126	0	196	198					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					GTAACTGTAACGGAACCTTTG	0.338000													1	1	1	1	1	1	1.000000	64	138	0	227	1	1	11	86	0	227	5
PPIG	9360	broad.mit.edu	37	2	170494027	170494027	+	Silent	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr2:170494027C>T	ENST00000260970.3	+	14	2479	c.2259C>T	c.(2257-2259)agC>agT	p.S753S	PPIG_ENST00000448752.2_Silent_p.S753S|PPIG_ENST00000409714.3_Silent_p.S738S	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	14	11	0	45	753					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAGACAAAAGCGGATGAGTGA	0.313000													1	1	1	1	1	1	0.999989	15	11	0	52	1	1	74	68	0	52	5
FARSB	10056	broad.mit.edu	37	2	223499175	223499175	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr2:223499175T>C	ENST00000281828.6	-	6	804	c.541A>G	c.(541-543)Atc>Gtc	p.I181V	FARSB_ENST00000536361.1_Missense_Mutation_p.I82V	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	11	21	0	80	181					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		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)	TTGAATTTGATATCTGAAGGA	0.398000													1	1	1	1	1	1	0.999660	12	22	0	91	1	9.999991e-01	38	34	0	91	5
UBA7	7318	broad.mit.edu	37	3	49847420	49847420	+	Silent	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:49847420G>A	ENST00000333486.3	-	14	1988	c.1830C>T	c.(1828-1830)caC>caT	p.H610H		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	8	137	0	164	610					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCTGCAGGGTGTGCTCGGCTG	0.612000													1	0	1	1	0	1	0.989959	8	148	0	185	1	6.744669e-01	2	41	0	185	3
PTPRG	5793	broad.mit.edu	37	3	62188855	62188855	+	Silent	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:62188855G>A	ENST00000474889.1	+	12	1763	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	PTPRG_ENST00000295874.10_Silent_p.A462A	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	33	62	0	193	462					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGCCCACAGCGTCTCCTGCCT	0.547000													1	1	1	1	1	1	1.000000	35	65	0	216	1	7.622587e-01	5	2	0	216	5
NSUN3	63899	broad.mit.edu	37	3	93813928	93813928	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:93813928G>A	ENST00000314622.4	+	5	884	c.673G>A	c.(673-675)Gac>Aac	p.D225N		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	18	30	0	72	225							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GTTTTCTTCTGACTCTCAGAA	0.383000													1	1	1	1	1	1	0.999996	18	31	0	78	1	8.852119e-01	5	4	0	78	5
GOLGB1	2804	broad.mit.edu	37	3	121435639	121435639	+	Silent	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:121435639G>A	ENST00000393667.3	-	9	1343	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	GOLGB1_ENST00000340645.5_Silent_p.L406L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	18	28	0	75	406					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTTATCTTGGAGAAGCTTTG	0.433000													1	1	1	1	1	1	0.999999	19	30	0	85	0	1.583710e-01	0	2	0	85	5
TMEM108	66000	broad.mit.edu	37	3	133099186	133099186	+	Missense_Mutation	SNP	C	C	T	rs145373217	byFrequency	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:133099186C>T	ENST00000515826.1	+	3	754	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.R211W|TMEM108_ENST00000393130.3_Missense_Mutation_p.R211W			Q6UXF1	TM108_HUMAN	transmembrane protein 108	36	32	0	100	211						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGGGCAGAAGCGGCCCCTGGG	0.592000													1	1	1	1	1	1	1.000000	40	36	0	109	1	1	46	68	0	109	5
COPB2	9276	broad.mit.edu	37	3	139078198	139078198	+	Silent	SNP	A	A	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:139078198A>G	ENST00000333188.5	-	18	2398	c.2217T>C	c.(2215-2217)gaT>gaC	p.D739D	COPB2_ENST00000507777.1_Silent_p.D710D	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	29	37	0	78	739					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			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CTAGGCAGGCATCAACCCTAA	0.393000													1	1	1	1	1	1	1.000000	31	42	0	78	1	1	145	218	0	78	5
LRRIQ4	344657	broad.mit.edu	37	3	169540472	169540472	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:169540472G>A	ENST00000340806.6	+	1	763	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	95	21	0	72	255										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGCTTCGCCGAGCTCAGGAA	0.607000													1	1	1	1	1	1	1.000000	99	21	0	75	0	0	0	0	0	75	5
PIK3CA	5290	broad.mit.edu	37	3	178952007	178952007	+	Missense_Mutation	SNP	A	A	G	rs121913288		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:178952007A>G	ENST00000263967.3	+	21	3219	c.3062A>G	c.(3061-3063)tAc>tGc	p.Y1021C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	126	25	0	61	1021	PI3K/PI4K.		Y -> C (in cancer).|Y -> H (in cancer).|Y -> N (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.Y1021C(23)|p.Y1021F(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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)			GACATTGCATACATTCGAAAG	0.388000		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	132	28	0	63	1	1	109	21	0	63	5
LIPH	200879	broad.mit.edu	37	3	185252705	185252705	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr3:185252705C>T	ENST00000296252.4	-	2	406	c.265G>A	c.(265-267)Gat>Aat	p.D89N	LIPH_ENST00000424591.2_Missense_Mutation_p.D89N	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	153	45	0	147	89					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ACTAAGTCATCCATCCAAACA	0.438000													1	1	1	1	1	1	1.000000	158	47	0	155	0	0	1	0	0	155	5
TLR1	7096	broad.mit.edu	37	4	38800071	38800071	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr4:38800071C>A	ENST00000308979.2	-	4	655	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	TLR1_ENST00000502213.2_Missense_Mutation_p.A128S	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	46	62	0	158	128					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						ATAGGCAGGGCATCAAATGCA	0.418000													1	0	1	1	1	1	1.000000	48	65	1	174	0	0	0	1	1	174	4
WDR19	57728	broad.mit.edu	37	4	39229838	39229838	+	Silent	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr4:39229838C>T	ENST00000399820.3	+	16	1792	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D	WDR19_ENST00000288634.7_Silent_p.D386D	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	5	11	0	18	546					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AGGTCAATGACGCTACCTATG	0.383000													1	0	1	1	1	1	0.974550	6	12	0	22	1	2.909091e-01	2	1	0	22	4
GSTCD	79807	broad.mit.edu	37	4	106638979	106638979	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr4:106638979A>G	ENST00000515279.1	+	2	429	c.209A>G	c.(208-210)gAt>gGt	p.D70G	GSTCD_ENST00000507281.1_Intron|GSTCD_ENST00000394730.3_Intron|GSTCD_ENST00000360505.5_Missense_Mutation_p.D70G|GSTCD_ENST00000394728.3_Missense_Mutation_p.D70G|GSTCD_ENST00000515255.1_Intron			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	27	40	0	87	70						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CTGATCCAGGATGTTGAAATA	0.383000													1	1	1	1	1	1	1.000000	27	40	0	95	1	6.656008e-01	4	1	0	95	5
FBXW7	0	broad.mit.edu	37	4	153249384	153249384	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr4:153249384C>G	ENST00000281708.4	-	9	2623	c.1394G>C	c.(1393-1395)cGt>cCt	p.R465P	FBXW7_ENST00000263981.5_Missense_Mutation_p.R385P|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347P|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289P|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465P|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465P	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	42	57	0	169	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCATACAACGCACAGTGGA	0.408000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	46	61	0	187	1	9.638981e-01	3	7	0	187	5
FER	2241	broad.mit.edu	37	5	108203563	108203563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr5:108203563C>T	ENST00000281092.4	+	6	961	c.577C>T	c.(577-579)Cag>Tag	p.Q193*	FER_ENST00000536402.1_Nonsense_Mutation_p.Q193*|FER_ENST00000438717.2_Nonsense_Mutation_p.Q18*	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	7	32	0	48	193	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		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)		GAAAGGGGCACAGCTCCATCA	0.403000													1	1	1	1	1	1	0.983838	7	35	0	51	0	0	0	1	0	51	5
WDR36	134430	broad.mit.edu	37	5	110438053	110438053	+	Silent	SNP	A	A	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr5:110438053A>G	ENST00000506538.2	+	6	1293	c.720A>G	c.(718-720)ctA>ctG	p.L240L	WDR36_ENST00000505303.1_Silent_p.L184L|WDR36_ENST00000513710.2_Silent_p.L240L	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	19	9	0	32	240					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		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)		GTAAACTTCTATATACATTTC	0.303000													1	1	1	1	1	1	1.000000	21	11	0	34	1	9.918815e-01	3	5	0	34	5
B4GALT7	11285	broad.mit.edu	37	5	177031297	177031297	+	Silent	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr5:177031297C>T	ENST00000029410.5	+	2	279	c.168C>T	c.(166-168)gaC>gaT	p.D56D		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	4	26	0	36	56					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			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	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)			GCTCTGGGGACGTGGCCCGGG	0.682000													0	0	1	0	0	1	0.894786	4	27	0	36	1	9.972197e-01	30	74	0	36	1
JARID2	3720	broad.mit.edu	37	6	15497073	15497073	+	Silent	SNP	G	G	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr6:15497073G>T	ENST00000341776.2	+	7	1861	c.1617G>T	c.(1615-1617)tcG>tcT	p.S539S	JARID2_ENST00000397311.3_Silent_p.S367S|JARID2_ENST00000541660.1_Silent_p.S501S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	21	33	0	61	539					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	p.S539S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGCAGGACTCGGGCAAGGCCG	0.657000													1	1	1	1	1	1	1.000000	21	42	0	65	1	7.972522e-01	4	4	0	65	5
ABCC10	89845	broad.mit.edu	37	6	43401078	43401078	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr6:43401078C>T	ENST00000244533.3	+	1	1590	c.1231C>T	c.(1231-1233)Cac>Tac	p.H411Y	ABCC10_ENST00000443426.2_3'UTR|ABCC10_ENST00000372530.4_Missense_Mutation_p.H454Y	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	32	23	0	54	454	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	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)			AATGCTACAGCACAAGGATGC	0.597000													1	1	1	1	1	1	1.000000	35	24	0	56	1	9.723963e-01	3	4	0	56	5
UTRN	7402	broad.mit.edu	37	6	144780347	144780347	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr6:144780347T>C	ENST00000367545.3	+	20	2564	c.2564T>C	c.(2563-2565)aTt>aCt	p.I855T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	11	56	0	54	855	Interaction with SYNM.				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			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CACCCCAAAATTGAAATGGCT	0.498000													1	1	1	1	1	1	0.999698	13	62	0	60	0	3.496503e-02	0	2	0	60	5
GLI3	2737	broad.mit.edu	37	7	42004014	42004014	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr7:42004014T>C	ENST00000395925.3	-	15	4741	c.4657A>G	c.(4657-4659)Agc>Ggc	p.S1553G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	29	33	0	52	1553					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			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTGGTGGTGCTCATGGACAGC	0.547000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				1	1	1	1	1	1	1.000000	32	35	0	57	1	1	27	24	0	57	5
MCM7	4176	broad.mit.edu	37	7	99696771	99696771	+	Missense_Mutation	SNP	G	G	A	rs150260409		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr7:99696771G>A	ENST00000303887.5	-	5	1102	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Missense_Mutation_p.R153W	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	8	158	0	160	153					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			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GAGTCAGCCCGCACTTCCCGG	0.512000													1	0	1	1	0	1	0.994606	9	162	0	167	1	9.997595e-01	31	273	0	167	3
ZFPM2	23414	broad.mit.edu	37	8	106814196	106814196	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr8:106814196C>T	ENST00000407775.2	+	8	2136	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S360F|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S497F|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S497F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	24	72	0	75	629					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			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATCAATTCTTCCACTGTCTTA	0.443000													1	1	1	1	1	1	1.000000	26	74	0	76	1	9.230503e-01	2	13	0	76	5
KCNQ3	3786	broad.mit.edu	37	8	133141882	133141882	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr8:133141882G>A	ENST00000388996.4	-	15	2666	c.2246C>T	c.(2245-2247)cCt>cTt	p.P749L	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P737L|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P629L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	34	44	0	53	749					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGTCAAGATAGGCAGGACCGT	0.617000													1	1	1	1	1	1	1.000000	38	47	0	57	0	2.037618e-01	0	2	0	57	5
ZFAT	57623	broad.mit.edu	37	8	135545196	135545196	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr8:135545196C>T	ENST00000520727.1	-	13	3259	c.2960G>A	c.(2959-2961)tGc>tAc	p.C987Y	ZFAT_ENST00000520214.1_Missense_Mutation_p.C987Y|ZFAT_ENST00000523399.1_Missense_Mutation_p.C937Y|ZFAT_ENST00000377838.3_Missense_Mutation_p.C999Y|ZFAT_ENST00000520356.1_Missense_Mutation_p.C987Y|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000429442.2_Missense_Mutation_p.C987Y	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	16	14	0	21	999					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	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)			GGAGTAATGGCAATGGGCACA	0.587000													1	1	1	1	1	1	0.999999	18	14	0	26	1	9.908791e-01	5	5	0	26	5
CPSF1	29894	broad.mit.edu	37	8	145619479	145619479	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			T	A	T	T		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr8:145619479T>A	ENST00000349769.3	-	33	3875	c.3781A>T	c.(3781-3783)Atg>Ttg	p.M1261L	CPSF1_ENST00000531727.1_Intron	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	7	23	0	47	1261					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			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	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)			TTGTCCACCATGAAGTCCACG	0.687000													1	1	0	1	0	1	0.992589	8	24	0	51	0	9.999998e-01	0	170	0	51	3
ADAMTSL1	92949	broad.mit.edu	37	9	18622331	18622331	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr9:18622331C>T	ENST00000380548.4	+	5	904	c.565C>T	c.(565-567)Cga>Tga	p.R189*	ADAMTSL1_ENST00000276935.6_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000380570.4_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000327883.7_Nonsense_Mutation_p.R189*|ADAMTSL1_ENST00000380566.4_Nonsense_Mutation_p.R189*	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	29	61	0	96	189						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCGGCTGGTCCGAGGGCAGTA	0.532000													1	1	1	1	1	1	1.000000	30	61	0	104	0	9.351634e-01	0	12	0	104	5
IFT74	80173	broad.mit.edu	37	9	26961996	26961996	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr9:26961996C>T	ENST00000443698.1	+	2	202	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C	IFT74_ENST00000433700.1_Missense_Mutation_p.R11C|IFT74_ENST00000429045.2_Missense_Mutation_p.R11C|IFT74_ENST00000380062.5_Missense_Mutation_p.R11C	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	45	42	0	99	11						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TTCAGCAGCTCGCCCTGTTTC	0.433000													1	1	1	1	1	1	1.000000	48	49	0	116	1	9.274007e-01	5	2	0	116	5
GARNL3	84253	broad.mit.edu	37	9	130095380	130095380	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr9:130095380G>A	ENST00000373387.4	+	9	1101	c.749G>A	c.(748-750)cGt>cAt	p.R250H	GARNL3_ENST00000314904.5_Missense_Mutation_p.R250H|GARNL3_ENST00000435213.2_Missense_Mutation_p.R228H	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	49	5	0	91	250	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						ACGGGCTACCGTGGCGGTCTG	0.428000													1	1	1	1	1	1	1.000000	55	7	0	106	1	9.981512e-01	5	0	0	106	5
MKX	283078	broad.mit.edu	37	10	28023623	28023623	+	Silent	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr10:28023623C>T	ENST00000375790.5	-	5	1032	c.600G>A	c.(598-600)gcG>gcA	p.A200A	MKX_ENST00000419761.1_Silent_p.A200A			Q8IYA7	MKX_HUMAN	mohawk homeobox	22	83	0	101	200					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCCTCACTCCCGCTTTGATGA	0.488000													1	1	1	1	1	1	1.000000	22	90	0	108	1	1	45	156	0	108	5
SLC25A28	81894	broad.mit.edu	37	10	101379857	101379857	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr10:101379857C>G	ENST00000370495.4	-	1	264	c.236G>C	c.(235-237)gGc>gCc	p.G79A	SLC25A28_ENST00000496035.1_Intron	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	8	17	0	31	79					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TGCCACGGCGCCTGCCACCAT	0.692000													1	1	1	1	0	1	0.996773	9	19	0	33	1	9.773133e-01	7	11	0	33	4
OR4X1	390113	broad.mit.edu	37	11	48285756	48285756	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr11:48285756T>C	ENST00000320048.1	+	1	344	c.344T>C	c.(343-345)gTg>gCg	p.V115A		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	23	30	0	67	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CTCCTGATGGTGATGGCCTAT	0.517000													1	1	1	1	1	1	1.000000	24	31	0	71	0	0	0	0	0	71	5
TNKS1BP1	85456	broad.mit.edu	37	11	57076216	57076216	+	Silent	SNP	G	G	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr11:57076216G>C	ENST00000532437.1	-	5	4280	c.3969C>G	c.(3967-3969)acC>acG	p.T1323T	TNKS1BP1_ENST00000358252.3_Silent_p.T1323T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	206	252	0	462	1323	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGGGTCACAGGTCACCTCCA	0.612000													1	1	1	1	1	1	1.000000	218	274	0	535	1	1	64	52	0	535	5
CHD4	1108	broad.mit.edu	37	12	6686974	6686974	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:6686974T>C	ENST00000309577.6	-	36	5585	c.5422A>G	c.(5422-5424)Aaa>Gaa	p.K1808E	CHD4_ENST00000544484.1_Missense_Mutation_p.K1805E|CHD4_ENST00000544040.1_Missense_Mutation_p.K1773E|CHD4_ENST00000357008.2_Missense_Mutation_p.K1780E			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	100	2	0	124	1780	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						GCTAGAAATTTATTCTTGATC	0.468000													1	1	1	1	1	1	1.000000	109	2	0	139	1	1	545	9	0	139	5
APOBEC1	339	broad.mit.edu	37	12	7803729	7803729	+	Missense_Mutation	SNP	G	G	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:7803729G>T	ENST00000229304.4	-	4	471	c.451C>A	c.(451-453)Cac>Aac	p.H151N		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	48	25	0	71	151					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			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CTCCAGCAGTGATAATACTCT	0.458000													1	1	1	1	1	1	1.000000	49	25	0	76	0	0	0	0	0	76	5
LUM	4060	broad.mit.edu	37	12	91502614	91502614	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:91502614G>A	ENST00000266718.4	-	2	597	c.143C>T	c.(142-144)cCa>cTa	p.P48L	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	18	23	0	56	48	Cys-rich.|LRRNT.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CATGGCACTTGGGTAGCTTTC	0.418000													1	1	1	1	1	1	0.999999	19	27	0	64	1	1	151	166	0	64	5
SLC5A8	160728	broad.mit.edu	37	12	101551128	101551128	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:101551128C>G	ENST00000536262.2	-	15	2320	c.1762G>C	c.(1762-1764)Gat>Cat	p.D588H		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	11	15	0	23	588					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCAGGATTATCAGTTCCACCA	0.388000													1	1	1	1	1	1	0.999759	12	15	0	23	0	0	0	1	0	23	5
C12orf42	374470	broad.mit.edu	37	12	103696308	103696308	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr12:103696308C>T	ENST00000548048.1	-	9	956	c.460G>A	c.(460-462)Ggc>Agc	p.G154S	C12orf42_ENST00000548883.1_Missense_Mutation_p.G221S|C12orf42_ENST00000378113.2_Missense_Mutation_p.G221S|C12orf42_ENST00000315192.8_Intron			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	34	57	0	76	221										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CTGCAGAGGCCGATGGCAGTG	0.667000													1	1	1	1	1	1	1.000000	38	60	0	86	0	0	0	0	0	86	5
SEC23A	10484	broad.mit.edu	37	14	39556161	39556161	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr14:39556161G>A	ENST00000537403.1	-	2	1251	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	SEC23A_ENST00000545328.2_Nonsense_Mutation_p.Q190*|SEC23A_ENST00000307712.6_Nonsense_Mutation_p.Q219*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.Q93*			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	24	9	0	54	219					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			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TGCTGTACCTGAGGACCACGT	0.383000													1	1	1	1	1	1	1.000000	27	10	0	59	0	9.999596e-01	1	12	0	59	5
NUDT14	256281	broad.mit.edu	37	14	105639417	105639417	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr14:105639417C>T	ENST00000392568.2	-	5	703	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	NUDT14_ENST00000550912.1_5'UTR|RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	57	22	0	101	204	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity	p.V204I(1)		cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		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)		CCAAAGATGACGCCGAGGGTC	0.627000										HNSCC(42;0.11)			1	1	1	1	1	1	1.000000	61	26	0	112	1	1	58	25	0	112	5
NFAT5	10725	broad.mit.edu	37	16	69724960	69724960	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr16:69724960C>A	ENST00000349945.1	+	13	3162	c.1610C>A	c.(1609-1611)aCa>aAa	p.T537K	NFAT5_ENST00000354436.2_Missense_Mutation_p.T613K|NFAT5_ENST00000566899.1_Missense_Mutation_p.T537K|NFAT5_ENST00000393742.2_Missense_Mutation_p.T537K|NFAT5_ENST00000432919.1_Missense_Mutation_p.T631K|NFAT5_ENST00000567239.1_Missense_Mutation_p.T630K	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	13	31	0	54	613					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATGGAAGTAACAGCAGAAAAA	0.328000													1	1	1	1	1	1	0.999780	13	35	0	63	0	0	0	0	0	63	5
TEKT1	83659	broad.mit.edu	37	17	6722546	6722546	+	Missense_Mutation	SNP	G	G	C	rs143989935	by1000genomes	TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:6722546G>C	ENST00000338694.2	-	3	451	c.322C>G	c.(322-324)Ccc>Gcc	p.P108A	TEKT1_ENST00000535086.1_Intron	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	8	30	0	79	108					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ATGTGCAAGGGCTCTTTCAAG	0.438000													1	1	0	1	1	1	0.991879	8	33	0	91	0	0	0	1	0	91	4
TP53	7157	broad.mit.edu	37	17	7579307	7579307	+	Intron	SNP	C	C	T	rs68140816		TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:7579307C>T	ENST00000420246.2	-	4	508				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Intron|TP53_ENST00000455263.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000269305.4_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	79	11	0	174						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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		CTCAGGGCAACTGACCGTGCA	0.532000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	0	1	0	1	1.000000	83	11	0	199	1	1	12	3	0	199	3
DNAH2	146754	broad.mit.edu	37	17	7683556	7683556	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:7683556T>A	ENST00000572933.1	+	37	7264	c.5804T>A	c.(5803-5805)cTc>cAc	p.L1935H	DNAH2_ENST00000389173.2_Missense_Mutation_p.L1935H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	10	149	0	247	1935	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GACTCCACCCTCATTGCAGAA	0.453000													1	1	1	1	0	1	0.999225	12	158	0	273	0	0	0	0	0	273	4
UNC119	9094	broad.mit.edu	37	17	26875096	26875096	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:26875096C>T	ENST00000484980.1	-	2	3234	c.73G>A	c.(73-75)Gac>Aac	p.D25N	UNC119_ENST00000470125.1_Missense_Mutation_p.D25N|UNC119_ENST00000335765.4_Missense_Mutation_p.D120N|UNC119_ENST00000301032.4_Missense_Mutation_p.D120N			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	35	2	0	58	120					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					GGGTCCAGGTCCCGCCGGTTG	0.652000											OREG0024277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	41	2	0	60	1	1	75	5	0	60	5
CCL14	6358	broad.mit.edu	37	17	34310906	34310906	+	Silent	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:34310906G>A	ENST00000480944.2	-	2	2685	c.279C>T	c.(277-279)ggC>ggT	p.G93G	CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000536149.1_Silent_p.G87G|CCL14_ENST00000394509.4_Silent_p.G71G|CCL14_ENST00000435911.2_Silent_p.G87G|CCL14_ENST00000586216.1_3'UTR|CCL15-CCL14_ENST00000481427.2_3'UTR			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	5	52	0	80	71					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGACGGAATGGCCCCTTTTGG	0.557000													1	0	1	1	0	1	0.940376	5	54	0	88	0	5.127161e-01	1	17	0	88	3
LRRC37A3	374819	broad.mit.edu	37	17	62892272	62892272	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:62892272C>G	ENST00000584306.1	-	3	1634	c.1104G>C	c.(1102-1104)gaG>gaC	p.E368D	LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E368D	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	90	399	0	513	368						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCCTAGAAGACTCAGAAGGCT	0.537000													1	0	1	1	0	1	1.000000	96	425	0	486	0	0	0	1	0	486	3
GAA	2548	broad.mit.edu	37	17	78081505	78081505	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr17:78081505G>A	ENST00000302262.3	+	4	1061	c.842G>A	c.(841-843)cGg>cAg	p.R281Q	GAA_ENST00000390015.3_Missense_Mutation_p.R281Q	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	68	41	0	93	281					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			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CTGTGGAACCGGGACCTTGCG	0.692000													1	1	1	1	1	1	1.000000	74	42	0	96	1	1	67	53	0	96	5
ONECUT2	9480	broad.mit.edu	37	18	55102969	55102969	+	Silent	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr18:55102969C>G	ENST00000491143.2	+	1	53	c.21C>G	c.(19-21)gcC>gcG	p.A7A		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	8	20	0	40	7					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CCTACACCGCCTATCGATGCC	0.721000													1	1	1	1	0	1	0.996475	9	23	0	48	0	0	0	0	0	48	4
THEG	51298	broad.mit.edu	37	19	371228	371228	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:371228A>G	ENST00000342640.4	-	6	772	c.730T>C	c.(730-732)Ttc>Ctc	p.F244L	THEG_ENST00000346878.2_Missense_Mutation_p.F220L	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	7	117	0	207	244					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		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)		ATGCTCCAGAAGTTATCACGA	0.652000													1	1	0	1	0	1	0.981529	7	126	0	221	0	0	0	0	0	221	3
FBN3	84467	broad.mit.edu	37	19	8206865	8206865	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:8206865C>T	ENST00000600128.1	-	7	1112	c.698G>A	c.(697-699)cGc>cAc	p.R233H	FBN3_ENST00000270509.2_Missense_Mutation_p.R233H|FBN3_ENST00000601739.1_Missense_Mutation_p.R233H			Q75N90	FBN3_HUMAN	fibrillin 3	20	51	0	81	233	TB 1.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAGCCGCGGCGGCAGGGGTG	0.637000													1	1	1	1	1	1	0.999999	21	53	0	87	0	0	0	0	0	87	5
ZNF560	147741	broad.mit.edu	37	19	9578448	9578448	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:9578448A>G	ENST00000301480.4	-	10	1388	c.1175T>C	c.(1174-1176)cTt>cCt	p.L392P		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	35	56	0	95	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TACATGTTCAAGAAAGCCTGA	0.428000													1	1	1	1	1	1	1.000000	35	56	0	103	0	0	0	0	0	103	5
SIGLEC10	89790	broad.mit.edu	37	19	51920476	51920476	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:51920476C>T	ENST00000353836.5	-	2	502	c.281G>A	c.(280-282)gGg>gAg	p.G94E	CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G94E|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G94E|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.G94E|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G94E|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.G94E|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G94E|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G94E|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G94E	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	51	37	0	114	94	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGCGGGATCCCCAGTGAGCTG	0.562000													1	1	1	1	1	1	1.000000	57	40	0	127	0	0	0	0	0	127	5
PPP2R1A	5518	broad.mit.edu	37	19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:52715971C>G	ENST00000322088.6	+	5	594	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	31	42	0	79	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen 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	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	1.000000	44	55	0	84	1	1	145	220	0	84	5
TTYH1	57348	broad.mit.edu	37	19	54932531	54932531	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr19:54932531C>A	ENST00000301194.4	+	3	508	c.386C>A	c.(385-387)gCc>gAc	p.A129D	TTYH1_ENST00000376531.3_Missense_Mutation_p.A129D|TTYH1_ENST00000391739.3_Missense_Mutation_p.A178D|TTYH1_ENST00000376530.3_Missense_Mutation_p.A129D			Q9H313	TTYH1_HUMAN	tweety family member 1	3	68	0	107	129					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CTGCTGCACGCCAACCACACA	0.622000													1	0	0	1	0	1	0.939687	5	72	0	118	0	2.610600e-01	0	13	0	118	2
USP25	29761	broad.mit.edu	37	21	17250147	17250147	+	Silent	SNP	A	A	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr21:17250147A>G	ENST00000285681.2	+	24	3297	c.2928A>G	c.(2926-2928)gaA>gaG	p.E976E	USP25_ENST00000400183.2_Silent_p.E1014E|USP25_ENST00000351097.5_Silent_p.E339E|USP25_ENST00000285679.6_Silent_p.E944E			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	8	12	0	19	944					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				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)		AACTCTTCGAATCTGGAGAGG	0.333000													1	0	1	1	0	1	0.994215	8	13	0	21	1	9.999918e-01	20	45	0	21	3
KRTAP20-2	337976	broad.mit.edu	37	21	32007616	32007616	+	Missense_Mutation	SNP	C	C	T			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chr21:32007616C>T	ENST00000330798.2	+	1	62	c.34C>T	c.(34-36)Cgt>Tgt	p.R12C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	45	55	0	114	12						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGGTGGTCTGCGTTATGGCTA	0.517000													1	1	1	1	1	1	1.000000	48	62	0	124	0	0	0	0	0	124	5
CNKSR2	22866	broad.mit.edu	37	X	21670532	21670532	+	Missense_Mutation	SNP	A	A	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:21670532A>G	ENST00000425654.2	+	21	3388	c.2908A>G	c.(2908-2910)Atc>Gtc	p.I970V	CNKSR2_ENST00000379510.3_Missense_Mutation_p.I1000V	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	40	31	0	106	1000					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TTTCTTGGATATCTGTCAAAA	0.398000													1	1	1	1	1	1	1.000000	42	32	0	114	1	3.150183e-01	2	0	0	114	5
ZFX	7543	broad.mit.edu	37	X	24225888	24225888	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:24225888G>A	ENST00000379177.1	+	8	1283	c.856G>A	c.(856-858)Gat>Aat	p.D286N	ZFX_ENST00000540034.1_Missense_Mutation_p.D325N|ZFX_ENST00000338565.3_Missense_Mutation_p.D236N|ZFX_ENST00000539115.1_Missense_Mutation_p.D57N|ZFX_ENST00000379188.3_Missense_Mutation_p.D286N|ZFX_ENST00000459724.1_3'UTR|ZFX_ENST00000304543.5_Missense_Mutation_p.D286N	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	28	65	0	152	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TGAACTGCTTGATCAGAACAG	0.408000													1	1	1	1	1	1	1.000000	30	68	0	161	0	3.665639e-01	1	3	0	161	5
CHDC2	286464	broad.mit.edu	37	X	36091420	36091420	+	Missense_Mutation	SNP	T	T	G			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:36091420T>G	ENST00000378660.1	+	4	543	c.355T>G	c.(355-357)Ttc>Gtc	p.F119V	CHDC2_ENST00000313548.4_Missense_Mutation_p.F119V					calponin homology domain containing 2	35	41	0	148																		ACAGACCTGGTTCAGTCTCTT	0.403000													1	1	1	1	1	1	1.000000	39	50	0	178	0	0	0	0	0	178	5
CYSLTR1	0	broad.mit.edu	37	X	77528817	77528817	+	Missense_Mutation	SNP	C	C	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:77528817C>A	ENST00000373304.3	-	3	719	c.427G>T	c.(427-429)Gtg>Ttg	p.V143L		NM_006639.2	NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	5	13	0	47	143					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	CCTACACACACAAACCTGGCT	0.373000													1	0	1	1	0	1	0.947670	5	13	0	49	0	1.000000e-01	0	2	0	49	3
KLHL4	0	broad.mit.edu	37	X	86869493	86869493	+	Missense_Mutation	SNP	T	T	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:86869493T>A	ENST00000373119.4	+	3	792	c.647T>A	c.(646-648)cTt>cAt	p.L216H	KLHL4_ENST00000373114.4_Missense_Mutation_p.L216H	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	16	18	0	68	216	BTB.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AATGATGTGCTTGAAGCCAAA	0.378000													1	1	1	1	1	1	0.999996	17	18	0	74	0	0	0	0	0	74	5
GRIA3	2892	broad.mit.edu	37	X	122616806	122616806	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:122616806T>C	ENST00000264357.5	+	15	2888	c.2596T>C	c.(2596-2598)Ttt>Ctt	p.F866L	GRIA3_ENST00000371256.5_Missense_Mutation_p.F866L|GRIA3_ENST00000542149.1_3'UTR|GRIA3_ENST00000371251.1_Missense_Mutation_p.F866L	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	27	66	0	108	866					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			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CACCCAAAACTTTAAGCCTGC	0.468000													1	1	1	1	1	1	1.000000	28	66	0	113	0	0	0	0	0	113	5
MAGEC2	51438	broad.mit.edu	37	X	141291465	141291465	+	Missense_Mutation	SNP	G	G	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:141291465G>C	ENST00000247452.3	-	3	656	c.309C>G	c.(307-309)tgC>tgG	p.C103W		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	48	28	0	89	103	Ser-rich.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAGGAGCAGCAGGAGCTCA	0.562000										HNSCC(46;0.14)			1	1	1	1	1	1	1.000000	50	30	0	92	1	3.896562e-01	2	0	0	92	5
SPANXN3	139067	broad.mit.edu	37	X	142605155	142605155	+	Missense_Mutation	SNP	T	T	C			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:142605155T>C	ENST00000370503.2	-	1	148	c.65A>G	c.(64-66)aAa>aGa	p.K22R		NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	5	121	0	175	22										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ATCATTTTTTTTGTTATTGGA	0.453000													1	1	1	1	0	1	0.966089	6	127	0	187	0	0	0	0	0	187	4
UBL4A	8266	broad.mit.edu	37	X	153714147	153714147	+	Missense_Mutation	SNP	G	G	A			TCGA-ND-A4WF-01A-11D-A28R-08	TCGA-ND-A4WF-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	272251fa-e9b3-4808-9f03-2b9c9ce7c175	3441e5ff-7295-4777-8516-a7238d9d441b	g.chrX:153714147G>A	ENST00000369660.4	-	3	411	c.326C>T	c.(325-327)gCg>gTg	p.A109V	UBL4A_ENST00000369653.4_Missense_Mutation_p.A109V|UBL4A_ENST00000477777.1_5'UTR	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	62	111	0	281	109					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity	p.A109V(1)		endometrium(5)|lung(1)|urinary_tract(1)	7	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)					GGCATCTGCCGCACTGAAGTG	0.622000													1	1	1	1	1	1	1.000000	85	158	0	337	0	1	0	79	0	337	5
KLHDC7A	127707	broad.mit.edu	37	1	18809452	18809452	+	Silent	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:18809452C>T	ENST00000400664.1	+	1	2029	c.1977C>T	c.(1975-1977)gcC>gcT	p.A659A		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	18	21	0	31	659						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		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)		GCTGGTGGGCCGGCCCCACCG	0.682000													1	1	1	1	0	1	0.999999	19	24	0	32	0	2.028986e-01	0	2	0	32	4
KCNA3	3738	broad.mit.edu	37	1	111216299	111216299	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:111216299G>A	ENST00000369769.2	-	1	1356	c.1133C>T	c.(1132-1134)tCg>tTg	p.S378L		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	68	144	0	184	378						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		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)		GGAGTGGCGCGACAGCTTGAA	0.592000													1	1	1	1	1	1	1.000000	75	161	0	204	0	0	0	0	0	204	5
RPTN	126638	broad.mit.edu	37	1	152128023	152128023	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:152128023C>A	ENST00000316073.3	-	3	1616	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	379	665	0	1089	518	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AAACTCTGGCCTTGTCTGTCT	0.498000													1	1	1	1	1	1	1.000000	418	740	0	1175	0	0	0	0	0	1175	5
IGSF9	57549	broad.mit.edu	37	1	159906690	159906690	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:159906690G>A	ENST00000368094.1	-	5	606	c.409C>T	c.(409-411)Caa>Taa	p.Q137*	IGSF9_ENST00000361509.3_Nonsense_Mutation_p.Q137*	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	11	47	0	76	137	Ig-like 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCTGGAATTGAGGGGGTGCT	0.637000											OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	0	1	1	1	0.998859	11	50	0	81	1	9.819966e-01	16	19	0	81	4
PAPPA2	60676	broad.mit.edu	37	1	176738843	176738843	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:176738843C>A	ENST00000367662.3	+	16	5588	c.4424C>A	c.(4423-4425)gCa>gAa	p.A1475E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	38	73	0	125	1475	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTGAACTATGCAAACTTCTCC	0.517000													1	1	1	1	1	1	1.000000	41	80	0	137	1	7.439718e-01	6	1	0	137	5
HECW2	57520	broad.mit.edu	37	2	197184313	197184313	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr2:197184313G>A	ENST00000260983.2	-	9	1483	c.1301C>T	c.(1300-1302)gCg>gTg	p.A434V	HECW2_ENST00000409111.1_Missense_Mutation_p.A78V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	26	65	0	58	434					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGAGCAGGTCGCTGTCCCCGG	0.502000													1	1	1	1	0	1	1.000000	27	67	0	58	0	0	0	0	0	58	4
PSMD2	5708	broad.mit.edu	37	3	184019846	184019846	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr3:184019846C>G	ENST00000310118.4	+	5	1249	c.691C>G	c.(691-693)Ctt>Gtt	p.L231V	PSMD2_ENST00000435761.1_Missense_Mutation_p.L72V|PSMD2_ENST00000439383.1_Missense_Mutation_p.L101V|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	33	54	0	83	231					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			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	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)	AAAGGTCTGCCTTTATCTCAC	0.507000													1	1	1	1	1	1	1.000000	34	63	0	95	1	1	64	37	0	95	5
G3BP2	9908	broad.mit.edu	37	4	76571563	76571563	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr4:76571563A>G	ENST00000359707.4	-	11	1920	c.1135T>C	c.(1135-1137)Ttt>Ctt	p.F379L	G3BP2_ENST00000395719.3_Missense_Mutation_p.F379L|G3BP2_ENST00000357854.3_Missense_Mutation_p.F346L	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	19	137	0	168	379	RRM.				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(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GAGTCATCAAAAACCACAAAA	0.328000													1	1	1	1	1	1	0.999997	20	153	0	191	1	9.892900e-01	11	47	0	191	5
SLC6A3	6531	broad.mit.edu	37	5	1420693	1420693	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr5:1420693G>A	ENST00000270349.9	-	6	1045	c.918C>T	c.(916-918)tgC>tgT	p.C306C	SLC6A3_ENST00000453492.2_Silent_p.C306C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	58	109	1	164	306					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			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)	CAGACGCCTCGCAGAGCCGGT	0.592000													1	0	1	1	1	1	1.000000	63	117	2	176	0	0	0	0	2	176	4
FAM173B	134145	broad.mit.edu	37	5	10227588	10227588	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr5:10227588T>G	ENST00000280330.8	-	6	781	c.175A>C	c.(175-177)Aca>Cca	p.T59P	FAM173B_ENST00000511437.1_Missense_Mutation_p.T223P|FAM173B_ENST00000510047.1_Missense_Mutation_p.T206P			Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	8	53	0	59	223						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						TGCATCGATGTACAGGGCCTC	0.478000													1	1	1	1	1	1	0.998806	11	57	0	65	1	9.314579e-01	9	18	0	65	5
HIST1H4C	8364	broad.mit.edu	37	6	26104424	26104424	+	Silent	SNP	A	A	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr6:26104424A>T	ENST00000377803.2	+	1	321	c.249A>T	c.(247-249)acA>acT	p.T83T		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	17	63	0	59	83					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AAACTGTCACAGCCATGGATG	0.483000													1	1	1	1	1	1	0.999982	17	71	0	65	1	1.071190e-01	2	1	0	65	5
OR12D3	81797	broad.mit.edu	37	6	29343055	29343055	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr6:29343055C>T	ENST00000396806.3	-	1	13	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	16	34	0	49	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						ATTGTAGTGACATTCTCCATT	0.328000													1	1	1	1	1	1	0.999979	16	35	0	50	0	0	0	0	0	50	5
DNAH11	8701	broad.mit.edu	37	7	21757423	21757423	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:21757423G>A	ENST00000328843.6	+	44	7066	c.7035G>A	c.(7033-7035)cgG>cgA	p.R2345R	DNAH11_ENST00000409508.3_Silent_p.R2338R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	9	45	0	49	2345	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACAGAAGGCGGCATCAATCAG	0.378000									Kartagener syndrome				1	1	1	1	1	1	0.995547	9	46	0	53	0	0	0	0	0	53	5
MYO1G	64005	broad.mit.edu	37	7	45003662	45003662	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:45003662C>T	ENST00000258787.7	-	20	2867	c.2731G>A	c.(2731-2733)Gtg>Atg	p.V911M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	3	11	0	13	911						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.V911L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TCAAGGGGCACGGCCCGCATC	0.642000													0	0	1	1	1	1	0.900136	4	11	0	15	0	8.835249e-01	1	13	0	15	3
ASNS	440	broad.mit.edu	37	7	97488687	97488687	+	Missense_Mutation	SNP	C	C	T	rs149193118		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:97488687C>T	ENST00000175506.4	-	6	1039	c.511G>A	c.(511-513)Gcg>Acg	p.A171T	ASNS_ENST00000422745.1_Missense_Mutation_p.A150T|ASNS_ENST00000455086.1_Missense_Mutation_p.A88T|ASNS_ENST00000444334.1_Missense_Mutation_p.A150T|ASNS_ENST00000437628.1_Missense_Mutation_p.A88T|ASNS_ENST00000394309.3_Missense_Mutation_p.A171T|ASNS_ENST00000394308.3_Missense_Mutation_p.A171T	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	13	36	0	80	171	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAGGGAGTCGCGGAGTGCTTC	0.368000													1	1	1	1	1	1	0.999949	15	39	0	84	1	9.999755e-01	14	45	0	84	5
ASZ1	136991	broad.mit.edu	37	7	117067469	117067469	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr7:117067469C>T	ENST00000284629.2	-	1	108	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	19	79	0	123	16					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	p.E16K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCGCTACTCTCGCCTCCGCCA	0.667000											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1	0	1	1	1	1	0.999863	21	95	1	145	0	0	0	0	1	145	4
NCBP1	4686	broad.mit.edu	37	9	100403882	100403882	+	Silent	SNP	T	T	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr9:100403882T>A	ENST00000375147.3	+	3	418	c.162T>A	c.(160-162)gcT>gcA	p.A54A		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	33	69	0	114	54	MIF4G.				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			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AAGGCTTGGCTGGTGTTTTGG	0.373000													1	1	1	1	1	1	1.000000	40	80	0	133	1	8.898079e-01	6	4	0	133	5
LMX1B	4010	broad.mit.edu	37	9	129453154	129453154	+	Silent	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr9:129453154C>T	ENST00000355497.5	+	3	373	c.366C>T	c.(364-366)atC>atT	p.I122I	LMX1B_ENST00000373474.4_Silent_p.I122I|LMX1B_ENST00000526117.1_Silent_p.I122I|LMX1B_ENST00000425646.2_Silent_p.I99I|LMX1B_ENST00000561065.1_Silent_p.I99I	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	15	24	0	43	99	LIM zinc-binding 2.				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			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						TGGAGAAGATCGCCCCCACCG	0.647000									Nail-Patella Syndrome				1	1	1	1	1	1	0.999984	16	27	0	47	0	0	0	0	0	47	5
ARMC3	219681	broad.mit.edu	37	10	23292319	23292319	+	Silent	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr10:23292319C>T	ENST00000298032.5	+	13	1791	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N	ARMC3_ENST00000409049.3_Silent_p.N569N|ARMC3_ENST00000409983.3_Silent_p.N569N|ARMC3_ENST00000376528.4_Silent_p.N306N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	19	95	0	101	569							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACATAATTAACGATGGATTCT	0.323000													1	1	1	1	1	1	0.999999	22	105	0	118	0	0	0	0	0	118	5
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	7	9	0	18	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			1	1	1	1	1	1	0.989284	7	9	0	24	1	9.762119e-01	8	5	0	24	5
OR9K2	441639	broad.mit.edu	37	12	55524043	55524043	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:55524043G>A	ENST00000305377.5	+	1	579	c.491G>A	c.(490-492)cGt>cAt	p.R164H		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	34	108	1	127	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ATGTCCACACGTCTGTGTACT	0.468000													1	0	1	1	1	1	1.000000	40	117	1	146	0	0	0	0	1	146	4
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M|ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	75	161	0	142	104			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(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517000													1	1	1	1	1	1	1.000000	79	174	0	152	1	1	39	36	0	152	5
ERBB3	2065	broad.mit.edu	37	12	56492632	56492632	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:56492632G>A	ENST00000267101.3	+	23	3222	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K	ERBB3_ENST00000553131.1_Missense_Mutation_p.E169K|ERBB3_ENST00000450146.2_Missense_Mutation_p.E285K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E869K|ERBB3_ENST00000549832.1_Missense_Mutation_p.E48K	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	49	138	0	96	928	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			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGAGAAGGGGGAGCGGTTGGC	0.512000													1	1	1	1	1	1	1.000000	53	149	0	102	1	1	72	79	0	102	5
NACA	4666	broad.mit.edu	37	12	57114545	57114545	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr12:57114545A>C	ENST00000454682.1	-	3	1050	c.769T>G	c.(769-771)Tct>Gct	p.S257A	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S257A|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	63	55	0	177	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	p.S257P(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTGTGGAGAAATCAGAACT	0.512000			T	BCL6	NHL								1	1	1	1	1	1	1.000000	73	60	0	193	1	1	594	0	0	193	5
FSCB	84075	broad.mit.edu	37	14	44976102	44976102	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr14:44976102C>T	ENST00000340446.4	-	1	380	c.89G>A	c.(88-90)cGt>cAt	p.R30H		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	22	115	0	173	30						cilium		p.R30H(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		ATTACCAATACGATGGGTAGC	0.428000													1	1	1	1	1	1	0.999999	22	123	0	188	0	0	0	0	0	188	5
SAV1	60485	broad.mit.edu	37	14	51101951	51101951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr14:51101951G>A	ENST00000324679.4	-	5	1465	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	23	34	0	67	368	SARAH.				hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CTCTGCTTTCGGTTTTCCAAC	0.343000													1	1	1	1	1	1	1.000000	26	41	0	83	1	9.994608e-01	20	4	0	83	5
MAN2A2	4122	broad.mit.edu	37	15	91455346	91455346	+	Missense_Mutation	SNP	G	G	A	rs146996561		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr15:91455346G>A	ENST00000360468.3	+	14	2201	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	MAN2A2_ENST00000559717.1_Missense_Mutation_p.R728H|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R236H	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	56	58	1	127	728					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			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GATGGGCACCGCACGCTGCCC	0.667000													1	0	1	1	1	1	1.000000	57	62	1	131	1	9.999997e-01	30	8	1	131	4
ABCA3	21	broad.mit.edu	37	16	2331468	2331468	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr16:2331468C>T	ENST00000301732.5	-	27	4778	c.4078G>A	c.(4078-4080)Gat>Aat	p.D1360N	ABCA3_ENST00000382381.3_Missense_Mutation_p.D1302N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	10	98	0	109	1360					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCCGCTACATCTTGGTCCTCA	0.582000													1	1	1	1	0	1	0.998602	11	106	0	112	1	3.785466e-01	2	11	0	112	4
SRRM2	23524	broad.mit.edu	37	16	2812318	2812318	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr16:2812318A>G	ENST00000301740.8	+	11	2338	c.1789A>G	c.(1789-1791)Aga>Gga	p.R597G		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	23	57	0	93	597	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ATCACGATCCAGAACTCCCAC	0.617000													1	1	1	1	1	1	1.000000	24	62	0	101	1	9.999996e-01	39	36	0	101	5
TP53	7157	broad.mit.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr17:7578272G>A	ENST00000420246.2	-	6	709	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000455263.2_Missense_Mutation_p.H193Y|TP53_ENST00000269305.4_Missense_Mutation_p.H193Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	16	22	0	68	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.557000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	0.999994	17	24	0	74	1	9.999992e-01	50	0	0	74	5
NF1	4763	broad.mit.edu	37	17	29687566	29687566	+	Missense_Mutation	SNP	C	C	G	rs144178015		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr17:29687566C>G	ENST00000358273.4	+	57	8605	c.8222C>G	c.(8221-8223)aCg>aGg	p.T2741R	NF1_ENST00000356175.3_Missense_Mutation_p.T2720R|NF1_ENST00000444181.2_Missense_Mutation_p.T534R|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	15	143	0	120	2741					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?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		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)		TTGATTGACACGTACCTGCCT	0.418000			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)			1	1	1	1	1	1	0.999973	17	160	0	128	0	6.703898e-01	1	22	0	128	5
SUZ12	23512	broad.mit.edu	37	17	30293184	30293184	+	Silent	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr17:30293184G>A	ENST00000322652.5	+	5	703	c.474G>A	c.(472-474)caG>caA	p.Q158Q	SUZ12_ENST00000580398.1_Silent_p.Q135Q	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	3	11	0	18	158					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CTCATTTGCAGCTTACGTTTA	0.269000			T	JAZF1	endometrial stromal tumours								0	0	1	0	0	1	0.813480	3	13	0	21	1	6.706553e-01	7	4	0	21	1
DCC	1630	broad.mit.edu	37	18	50912508	50912508	+	Splice_Site	SNP	G	G	A			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr18:50912508G>A	ENST00000442544.2	+	16	3071	c.2455_splice	c.e16+1	p.D819_splice	DCC_ENST00000581580.1_Splice_Site_p.D474_splice|DCC_ENST00000412726.1_Splice_Site_p.D667_splice	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	9	13	0	25	819					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTCTATAACCGGTAAGTGAAA	0.328000													1	1	0	1	1	1	0.997267	9	14	0	26	0	0	1	0	0	26	4
SCAF1	58506	broad.mit.edu	37	19	50155743	50155743	+	Silent	SNP	C	C	T	rs150047328		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr19:50155743C>T	ENST00000360565.3	+	7	2221	c.2097C>T	c.(2095-2097)ttC>ttT	p.F699F		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	5	15	0	13	699	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		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)		ACGACCTCTTCGCCATCAAGC	0.706000													1	0	0	1	0	1	0.972704	6	16	0	15	1	9.999559e-01	17	73	0	15	2
PJA1	64219	broad.mit.edu	37	X	68382933	68382933	+	Missense_Mutation	SNP	G	G	A	rs147196192		TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chrX:68382933G>A	ENST00000361478.1	-	2	526	c.149C>T	c.(148-150)aCg>aTg	p.T50M	PJA1_ENST00000477231.1_5'UTR|PJA1_ENST00000374571.4_De_novo_Start_InFrame|PJA1_ENST00000374583.1_Missense_Mutation_p.T50M|PJA1_ENST00000374584.3_Missense_Mutation_p.T50M	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	41	116	0	219	50							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTCGGAGTTCGTCTTTCTCTG	0.537000													1	1	1	1	1	1	1.000000	45	130	0	241	0	9.999932e-01	0	57	0	241	5
OR1C1	26188	broad.mit.edu	37	1	247921040	247921042	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-NF-A4WU-01A-11D-A28R-08	TCGA-NF-A4WU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6090017-f654-44df-a9f1-de8cebd17800	70bbf359-1999-4ac8-9cda-79d8abdebad0	g.chr1:247921040_247921042delGGA	ENST00000408896.2	-	1	940_942	c.667_669delTCC	c.(667-669)del	p.S223del		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	47	56	0	65	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	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)			TCAGAACAGTGGAGAAGATAAGT	0.493000													1	1	1	1	0	1	1.000000	50	105	0	68							4
CPSF3L	54973	broad.mit.edu	37	1	1256383	1256383	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:1256383T>C	ENST00000540437.1	-	4	592	c.137A>G	c.(136-138)aAt>aGt	p.N46S	CPSF3L_ENST00000419704.1_Missense_Mutation_p.N40S|CPSF3L_ENST00000450926.2_Missense_Mutation_p.N40S|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000435064.1_Missense_Mutation_p.N40S|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000545578.1_Missense_Mutation_p.N11S	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	27	64	0	159	40						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	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)		CACGTCGTCATTGAAGCCCAT	0.652000													1	1	1	1	1	1	1.000000	29	71	0	170	1	1	30	57	0	170	5
KLHL20	27252	broad.mit.edu	37	1	173743491	173743491	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:173743491C>G	ENST00000209884.4	+	9	1479	c.1343C>G	c.(1342-1344)aCc>aGc	p.T448S	KLHL20_ENST00000546011.1_Missense_Mutation_p.T259S	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	6	210	0	228	448					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			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TCTATGAGTACCAGAAGACTA	0.488000													0	0	1	0	0	1	0.965525	6	236	0	259	1	1.261697e-01	2	19	0	259	1
TRAX	0	broad.mit.edu	37	1	231696874	231696874	+	Splice_Site	SNP	G	G	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr1:231696874G>T	ENST00000602962.1	+	5	526	c.367_splice	c.e5-1	p.G123_splice	TSNAX_ENST00000366639.4_Splice_Site_p.G123_splice						14	9	0	28																		ACGCTTTCAGGACTACAGGAA	0.279000													1	1	1	1	1	1	0.999991	15	10	0	32	1	9.999582e-01	12	9	0	32	5
DHX57	90957	broad.mit.edu	37	2	39050325	39050325	+	Missense_Mutation	SNP	C	C	T	rs146225438		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr2:39050325C>T	ENST00000295373.6	-	17	3227	c.3101G>A	c.(3100-3102)cGt>cAt	p.R1034H		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	17	42	0	87	1034							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTTTGAGGCACGAAGAGAATC	0.428000													1	1	1	1	1	1	0.999999	20	46	0	91	1	9.999483e-01	15	30	0	91	5
KYNU	8942	broad.mit.edu	37	2	143798178	143798178	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr2:143798178C>T	ENST00000264170.4	+	13	1481	c.1223C>T	c.(1222-1224)tCt>tTt	p.S408F	KYNU_ENST00000409512.1_Missense_Mutation_p.S408F	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	6	26	0	43	408					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATAACATTTTCTGTTCCAAAC	0.408000													1	1	1	1	1	1	0.969841	6	28	0	48	0	1.062115e-01	0	3	0	48	5
PLA2R1	0	broad.mit.edu	37	2	160807932	160807932	+	Silent	SNP	T	T	C			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr2:160807932T>C	ENST00000283243.7	-	24	3665	c.3459A>G	c.(3457-3459)acA>acG	p.T1153T	PLA2R1_ENST00000392771.1_Silent_p.T1153T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	17	31	0	87	1153	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GATACTGGTCTGTGATGCTGA	0.433000													1	1	1	1	1	1	0.999996	18	37	0	93	0	2.630041e-01	1	2	0	93	5
CX3CR1	1524	broad.mit.edu	37	3	39307306	39307306	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr3:39307306A>C	ENST00000541347.1	-	2	934	c.695T>G	c.(694-696)cTg>cGg	p.L232R	CX3CR1_ENST00000358309.3_Missense_Mutation_p.L264R|CX3CR1_ENST00000399220.2_Missense_Mutation_p.L232R|CX3CR1_ENST00000542107.1_Missense_Mutation_p.L232R	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	5	61	0	105	232					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CAGAAGGATCAGTTTAATGGC	0.448000													1	1	1	1	0	1	0.967264	6	63	0	110	0	0	0	0	0	110	4
COL6A6	131873	broad.mit.edu	37	3	130383937	130383937	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr3:130383937G>A	ENST00000358511.6	+	35	6624	c.6593G>A	c.(6592-6594)cGa>cAa	p.R2198Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R2198Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	4	5	0	24	2198	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGACCATTCCGAAGGTACTGT	0.413000													1	0	1	1	1	1	0.906347	4	6	0	28	0	0	0	0	0	28	4
FBXW7	0	broad.mit.edu	37	4	153249385	153249385	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr4:153249385G>A	ENST00000281708.4	-	9	2622	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	58	32	1	144	465			R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation).		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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGCATACAACGCACAGTGGAA	0.413000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	60	36	1	164	1	9.923144e-01	4	4	1	164	5
ASIC5	51802	broad.mit.edu	37	4	156784847	156784847	+	Nonsense_Mutation	SNP	G	G	A	rs138414327	byFrequency	TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr4:156784847G>A	ENST00000537611.2	-	2	146	c.100C>T	c.(100-102)Cga>Tga	p.R34*	TDO2_ENST00000506181.1_Intron	NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	11	34	0	80	34						integral to membrane|plasma membrane											AACTTCTTTCGCTCAGTGGGA	0.403000													1	1	1	1	1	1	0.999518	12	37	0	96	0	0	0	0	0	96	5
SPCS3	60559	broad.mit.edu	37	4	177241254	177241254	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr4:177241254C>G	ENST00000503362.1	+	1	140	c.27C>G	c.(25-27)aaC>aaG	p.N9K	RP11-87F15.2_ENST00000512634.1_RNA	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	52	67	0	276	9					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		CGCGGGCGAACTCACTGTTCG	0.672000													1	1	1	1	0	1	1.000000	55	78	0	316	1	9.998706e-01	11	13	0	316	4
MARCH6	10299	broad.mit.edu	37	5	10403623	10403623	+	Silent	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr5:10403623C>T	ENST00000274140.5	+	15	1434	c.1302C>T	c.(1300-1302)taC>taT	p.Y434Y	MARCH6_ENST00000449913.2_Silent_p.Y386Y|MARCH6_ENST00000510792.1_Silent_p.Y132Y|MARCH6_ENST00000503788.1_Silent_p.Y329Y	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	34	26	0	61	434					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ATGTCTTCTACTTTGCCTCCT	0.428000													1	1	1	1	1	1	1.000000	38	29	0	69	1	1	26	29	0	69	5
HFE	3077	broad.mit.edu	37	6	26091203	26091203	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr6:26091203C>T	ENST00000357618.5	+	2	333	c.211C>T	c.(211-213)Cga>Tga	p.R71*	HFE_ENST00000488199.1_Intron|HFE_ENST00000336625.8_Nonsense_Mutation_p.R71*|HFE_ENST00000461397.1_Nonsense_Mutation_p.R71*|HFE_ENST00000397022.3_Nonsense_Mutation_p.R48*|HFE_ENST00000470149.1_Nonsense_Mutation_p.R71*|HFE_ENST00000309234.6_Nonsense_Mutation_p.R71*|HFE_ENST00000352392.4_Intron|HFE_ENST00000353147.5_Intron|HFE_ENST00000317896.7_Nonsense_Mutation_p.R71*|HFE_ENST00000349999.4_Intron	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	46	57	0	101	71	Alpha-1.				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	p.R71R(1)		endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTGGAGCCCCGAACTCCATG	0.512000									Hemochromatosis				1	1	1	1	1	1	1.000000	47	57	0	104	1	7.424655e-01	5	0	0	104	5
ZNF716	441234	broad.mit.edu	37	7	57528634	57528634	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr7:57528634C>T	ENST00000420713.1	+	4	579	c.467C>T	c.(466-468)aCa>aTa	p.T156I		NM_001159279.1	NP_001152751.1			zinc finger protein 716	4	24	0	23											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAAACAAAACATTTCAGACT	0.323000													0	0	1	0	1	1	0.895278	4	24	0	24	0	0	0	1	0	24	2
RNF32	140545	broad.mit.edu	37	7	156447342	156447342	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr7:156447342G>A	ENST00000392741.2	+	3	435	c.347G>A	c.(346-348)cGc>cAc	p.R116H	RNF32_ENST00000343665.4_Missense_Mutation_p.R116H|AC005534.8_ENST00000455709.1_RNA|RNF32_ENST00000392743.2_Missense_Mutation_p.R116H|RNF32_ENST00000432459.2_Missense_Mutation_p.R116H|RNF32_ENST00000405335.1_Missense_Mutation_p.R116H|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000317955.5_Missense_Mutation_p.R116H|RNF32_ENST00000311822.8_Missense_Mutation_p.R116H			Q9H0A6	RNF32_HUMAN	ring finger protein 32	6	50	0	55	116						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GTGAAACAGCGCTCTCTCCTG	0.527000													1	1	1	1	1	1	0.982785	7	54	0	60	0	4.885103e-01	0	13	0	60	5
VPS13B	157680	broad.mit.edu	37	8	100287482	100287482	+	Splice_Site	SNP	G	G	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr8:100287482G>T	ENST00000395996.1	+	19	2935	c.2824_splice	c.e19+1	p.G942_splice	VPS13B_ENST00000358544.2_Splice_Site_p.G942_splice|VPS13B_ENST00000357162.2_Splice_Site_p.G942_splice			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	17	71	0	107	942					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCACAATTCCGGTAAGTACAA	0.333000													1	1	1	1	1	1	0.999981	17	78	0	116	0	9.339556e-02	1	2	0	116	5
MTBP	27085	broad.mit.edu	37	8	121531025	121531025	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr8:121531025C>T	ENST00000305949.1	+	20	2623	c.2578C>T	c.(2578-2580)Cgt>Tgt	p.R860C		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	37	14	0	79	860	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	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)			ATGCAGCCAGCGTCTCTTTGA	0.353000													1	1	1	1	1	1	1.000000	44	17	0	93	1	1	29	17	0	93	5
WAC	51322	broad.mit.edu	37	10	28822965	28822965	+	Splice_Site	SNP	T	T	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr10:28822965T>A	ENST00000375664.3	+	2	552		c.e2+2		WAC_ENST00000532233.1_Splice_Site|WAC_ENST00000428935.1_Splice_Site|WAC_ENST00000375646.1_Splice_Site|WAC_ENST00000354911.4_Splice_Site|WAC_ENST00000347934.4_Splice_Site			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	8	52	0	60						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			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CCTTACCAGGTACCAGCCGAG	0.662000													1	0	1	1	0	1	0.967783	11	58	1	75	0	9.498403e-01	1	1	1	75	3
PIDD	55367	broad.mit.edu	37	11	803576	803576	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:803576G>A	ENST00000347755.5	-	3	448	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Missense_Mutation_p.R103W	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	17	0	0	28	103					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										AGTGTGTCCCGGCGTTGCCCT	0.672000													1	1	1	1	1	1	1.000000	19	0	0	29	1	1	14	0	0	29	5
OR5D14	219436	broad.mit.edu	37	11	55563682	55563682	+	Silent	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:55563682C>T	ENST00000335605.1	+	1	651	c.651C>T	c.(649-651)ctC>ctT	p.L217L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	21	103	0	175	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGATCATCCTCACTTCCTATG	0.478000													1	1	1	1	1	1	0.999999	22	114	0	194	0	0	0	0	0	194	5
C11orf63	79864	broad.mit.edu	37	11	122805248	122805248	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr11:122805248C>T	ENST00000227349.2	+	5	1396	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	C11orf63_ENST00000531316.1_Nonsense_Mutation_p.R367*	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	9	28	0	40	367										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		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)		GCTCAAGATTCGAAAGCAGTG	0.468000													1	1	1	1	1	1	0.998130	10	29	0	43	0	0	0	1	0	43	5
N4BP2L2	10443	broad.mit.edu	37	13	33018126	33018126	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr13:33018126G>T	ENST00000357505.6	-	7	607	c.503C>A	c.(502-504)cCg>cAg	p.P168Q	N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P183Q|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.P168Q	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	3	16	0	22	179										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		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)		CTGATCTCCCGGTGTAAGATC	0.383000													1	0	1	1	0	1	0.897419	4	16	0	24	0	8.366093e-01	0	16	0	24	3
DHRS4L2	317749	broad.mit.edu	37	14	24464290	24464290	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr14:24464290T>C	ENST00000335125.6	+	3	482	c.356T>C	c.(355-357)gTc>gCc	p.V119A	DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.V18A|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.V119A|DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.V119A|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.V117A	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	82	375	0	642	74							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		AATGCTGCTGTCAACCCTTTC	0.537000													1	1	1	1	1	1	1.000000	91	424	0	692	1	7.701503e-01	3	8	0	692	5
FOXN3	1112	broad.mit.edu	37	14	89628877	89628877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr14:89628877C>A	ENST00000345097.4	-	7	1470	c.1354G>T	c.(1354-1356)Gag>Tag	p.E452*	FOXN3_ENST00000261302.5_Nonsense_Mutation_p.E452*|FOXN3_ENST00000555353.1_Nonsense_Mutation_p.E430*|FOXN3_ENST00000557258.1_Nonsense_Mutation_p.E430*	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	16	36	0	69	452					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			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCTTTCATCTCCTCATCATCG	0.567000													1	1	1	1	1	1	0.999995	18	38	0	76	1	5.225982e-01	3	1	0	76	5
SETD1A	9739	broad.mit.edu	37	16	30970072	30970072	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr16:30970072G>A	ENST00000262519.8	+	2	706	c.20G>A	c.(19-21)gGa>gAa	p.G7E		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	3	104	0	125	7					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			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GAAGGTGGGGGAGATGGGCAG	0.582000													1	0	0	1	0	1	0.966237	6	113	0	146	0	1.359626e-01	0	11	0	146	2
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	15	2	0	49	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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 -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	0	1	0.999999	15	2	0	52	1	1	133	5	0	52	4
PLXDC1	57125	broad.mit.edu	37	17	37264406	37264406	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:37264406C>T	ENST00000315392.4	-	5	773	c.562G>A	c.(562-564)Gac>Aac	p.D188N	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.D148N|PLXDC1_ENST00000394316.2_Missense_Mutation_p.D188N|PLXDC1_ENST00000539608.1_Missense_Mutation_p.D115N	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	17	161	0	191	188					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGAGTTGTCGGAGTAGCCA	0.522000													1	1	1	1	1	1	0.999986	18	173	0	204	1	8.776643e-01	4	34	0	204	5
LRRC46	90506	broad.mit.edu	37	17	45911901	45911901	+	Splice_Site	SNP	T	T	C			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:45911901T>C	ENST00000269025.4	+	3	588		c.e3+2			NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	57	3	0	95											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						CTGCAAGGGGTAACTTCTTTC	0.527000													1	1	1	1	1	1	1.000000	60	3	0	96	1	9.868490e-01	3	0	0	96	5
RNF43	54894	broad.mit.edu	37	17	56492928	56492928	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:56492928C>T	ENST00000584437.1	-	1	1966	c.11G>A	c.(10-12)gGc>gAc	p.G4D	RNF43_ENST00000581868.1_Intron|RNF43_ENST00000407977.2_Missense_Mutation_p.G4D|RNF43_ENST00000577716.1_Missense_Mutation_p.G4D|RNF43_ENST00000500597.2_Missense_Mutation_p.G4D|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.G4D			Q68DV7	RNF43_HUMAN	ring finger protein 43	58	1	0	54	4						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCTGGTGGCCACCACTCAT	0.572000													1	1	1	1	1	1	1.000000	60	1	0	58	1	1	12	0	0	58	5
FOXK2	3607	broad.mit.edu	37	17	80545021	80545021	+	Silent	SNP	G	G	T	rs139592674		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr17:80545021G>T	ENST00000335255.5	+	8	1833	c.1659G>T	c.(1657-1659)ccG>ccT	p.P553P		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	10	103	0	97	553					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			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AGACCACCCCGGTCCAGACGG	0.532000													1	1	1	1	0	1	0.999270	12	115	0	102	1	9.949291e-01	10	80	0	102	4
SH3GL1	6455	broad.mit.edu	37	19	4363847	4363847	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:4363847C>T	ENST00000269886.3	-	6	672	c.494G>A	c.(493-495)cGc>cAc	p.R165H	SH3GL1_ENST00000417295.2_Missense_Mutation_p.R117H|SH3GL1_ENST00000598564.1_Missense_Mutation_p.R101H|AC007292.6_ENST00000594444.1_RNA	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	36	2	0	97	165	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AAAGTCCAGGCGGCGGCCCTC	0.622000			T	MLL	AL								1	1	1	1	1	1	1.000000	40	2	0	114	1	1	98	5	0	114	5
PLIN3	10226	broad.mit.edu	37	19	4859938	4859938	+	Silent	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:4859938G>A	ENST00000221957.4	-	3	341	c.165C>T	c.(163-165)caC>caT	p.H55H	PLIN3_ENST00000592528.1_Silent_p.H55H|PLIN3_ENST00000585479.1_Silent_p.H55H	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	8	16	0	72	55					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CAGTCTTGATGTGCGGGTAGC	0.637000													1	1	1	1	1	1	0.997050	9	16	0	77	1	9.999940e-01	12	55	0	77	5
DNASE2	1777	broad.mit.edu	37	19	12989503	12989503	+	Silent	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:12989503G>A	ENST00000222219.3	-	4	584	c.492C>T	c.(490-492)ttC>ttT	p.F164F	DNASE2_ENST00000538460.1_Intron	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	7	21	0	40	164				Missing (in Ref. 8; AAB51172).	apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGAACTGAGCGAAGGGAAAAG	0.552000													1	1	0	1	1	1	0.985354	7	22	0	44	1	9.999918e-01	27	90	0	44	4
NWD1	284434	broad.mit.edu	37	19	16860396	16860396	+	Missense_Mutation	SNP	C	C	T	rs148848880		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:16860396C>T	ENST00000524140.2	+	6	1361	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	NWD1_ENST00000552788.1_Missense_Mutation_p.R315C|NWD1_ENST00000549814.1_Missense_Mutation_p.R315C|NWD1_ENST00000523826.1_Missense_Mutation_p.R109C|NWD1_ENST00000379808.3_Missense_Mutation_p.R315C|NWD1_ENST00000339803.6_Missense_Mutation_p.R180C	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	14	35	0	88	315							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTCTGCGGACGCCAGGAACT	0.627000													1	1	1	1	1	1	0.999948	15	40	0	94	0	0	0	0	0	94	5
WDR62	284403	broad.mit.edu	37	19	36591677	36591677	+	Missense_Mutation	SNP	G	G	A	rs141094124		TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr19:36591677G>A	ENST00000401500.2	+	23	2802	c.2767G>A	c.(2767-2769)Ggg>Agg	p.G923R	WDR62_ENST00000270301.7_Missense_Mutation_p.G923R	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	18	87	0	163	923					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCTGGCCGCGGGCACCCCTC	0.607000													1	1	1	1	1	1	0.999990	18	95	0	181	1	9.150643e-01	5	20	0	181	5
KLHL22	84861	broad.mit.edu	37	22	20825725	20825725	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr22:20825725C>T	ENST00000328879.4	-	3	461	c.305G>A	c.(304-306)tGc>tAc	p.C102Y	KLHL22_ENST00000440659.2_Intron	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	15	85	0	131	102	BTB.				cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	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)			TAGGATTTGGCACATAGCATT	0.502000													1	0	1	1	1	1	0.999914	15	89	0	138	1	9.911148e-01	7	43	0	138	4
NCAPH2	29781	broad.mit.edu	37	22	50955912	50955912	+	Splice_Site	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr22:50955912G>A	ENST00000395701.3	+	3	360		c.e3+1		NCAPH2_ENST00000299821.11_Splice_Site|NCAPH2_ENST00000395698.3_Splice_Site|NCAPH2_ENST00000420993.2_Splice_Site			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	102	75	0	185						chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		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;0.212)		CTGGAAAGAGGTGAGTTCTGC	0.607000													1	1	1	1	1	1	1.000000	110	83	0	208	0	1	0	61	0	208	5
PLAC1	10761	broad.mit.edu	37	X	133700506	133700506	+	Silent	SNP	G	G	A			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chrX:133700506G>A	ENST00000359237.4	-	3	492	c.207C>T	c.(205-207)caC>caT	p.H69H	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	61	4	0	257	69					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					ACTGGTAGGCGTGTGGCTGAA	0.498000													1	1	1	1	1	1	1.000000	65	4	0	273	1	1	12	0	0	273	5
USP49	25862	broad.mit.edu	37	6	41774205	41774205	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr6:41774205delG	ENST00000394253.3	-	3	846	c.517delC	c.(517-519)ggfs	p.R173fs	USP49_ENST00000373010.1_Frame_Shift_Del_p.R173fs|USP49_ENST00000373006.1_Frame_Shift_Del_p.R173fs|USP49_ENST00000373009.3_Frame_Shift_Del_p.R173fs|USP49_ENST00000297229.2_Frame_Shift_Del_p.R173fs			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	10	10	0	42	173					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	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)			TCCTCCTGCCGCCGCTGCTCC	0.731000													1	1	1	1	0	1	0.998417	10	21	0	43	0	1.176471e-01	1	1	0	43	4
BRCA2	675	broad.mit.edu	37	13	32929088	32929088	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NF-A4WX-01A-11D-A28R-08	TCGA-NF-A4WX-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	09a88841-5d21-4363-bc57-503b9c2be4d2	86a042ba-233d-45e8-9fd6-fcaba878cfb8	g.chr13:32929088delG	ENST00000544455.1	+	14	7325	c.7098delG	c.(7096-7098)ctfs	p.L2366fs	BRCA2_ENST00000380152.3_Frame_Shift_Del_p.L2366fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	45	48	0	58	2366	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			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		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)		ATGAACATCTGACTTTGGAAA	0.358000			D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			1	1	1	1	0	1	1.000000	45	94	0	58	0	5.228944e-01	1	4	0	58	4
PEX14	5195	broad.mit.edu	37	1	10689685	10689685	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:10689685C>A	ENST00000356607.4	+	9	855	c.775C>A	c.(775-777)Cac>Aac	p.H259N	PEX14_ENST00000538836.1_Missense_Mutation_p.H195N	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	55	45	0	79	259					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGAACCACCACAGCAGCAG	0.642000													1	1	1	1	1	1	1.000000	55	46	0	82	1	1	80	51	0	82	5
ARID1A	8289	broad.mit.edu	37	1	27106730	27106730	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:27106730C>A	ENST00000324856.7	+	20	6712	c.6341C>A	c.(6340-6342)cCg>cAg	p.P2114Q	ARID1A_ENST00000457599.2_Missense_Mutation_p.P1897Q|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1731Q|ARID1A_ENST00000540690.1_Missense_Mutation_p.P442Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	60	137	0	146	2114					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		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		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)		GTCCTTTCCCCGCAGAGACTG	0.597000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC								1	1	1	1	1	1	1.000000	61	154	0	161	1	1	68	95	0	161	5
RLF	6018	broad.mit.edu	37	1	40703957	40703957	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:40703957C>T	ENST00000372771.4	+	8	3610	c.3583C>T	c.(3583-3585)Cat>Tat	p.H1195Y		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	31	32	0	60	1195					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			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	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)			TAAAAATAAACATCAAATTGG	0.358000													1	1	1	1	1	1	1.000000	32	33	0	63	1	9.528390e-01	3	5	0	63	5
RAD54L	8438	broad.mit.edu	37	1	46725698	46725698	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:46725698C>T	ENST00000371975.4	+	5	1008	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	RAD54L_ENST00000442598.1_Missense_Mutation_p.P112S	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	93	84	0	138	112					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCTCCATGACCCCCTGGAAAA	0.537000								Direct reversal of damage;Homologous recombination					1	1	1	1	1	1	1.000000	94	86	0	144	1	1	19	12	0	144	5
TTC22	55001	broad.mit.edu	37	1	55251777	55251777	+	Missense_Mutation	SNP	C	C	T	rs145786276		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:55251777C>T	ENST00000371276.4	-	5	1002	c.899G>A	c.(898-900)cGc>cAc	p.R300H	TTC22_ENST00000371274.4_Missense_Mutation_p.R300H	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	19	25	0	68	300							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TTTTGCCAGGCGATTCAGGAT	0.502000													1	1	1	1	1	1	0.999999	19	28	0	76	0	0	0	0	0	76	5
SPTA1	6708	broad.mit.edu	37	1	158581178	158581178	+	Splice_Site	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:158581178G>T	ENST00000368148.3	-	52	7316	c.7134_splice	c.e52-1	p.A2379_splice	SPTA1_ENST00000368147.3_Splice_Site_p.A2376_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	11	94	0	59	2379	EF-hand 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			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGGGTAAGGGCCTGAAAAGT	0.458000													1	1	1	1	1	1	0.999640	13	102	0	67	0	0	0	0	0	67	5
OR10J5	127385	broad.mit.edu	37	1	159505081	159505081	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:159505081G>A	ENST00000334857.2	-	1	761	c.717C>T	c.(715-717)acC>acT	p.T239T		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	6	130	0	70	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGGAGACACAGGTGGCAAAGG	0.478000													1	0	1	1	0	1	0.965985	6	139	0	72	0	0	0	0	0	72	3
C1orf110	339512	broad.mit.edu	37	1	162825078	162825078	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:162825078C>T	ENST00000367912.1	-	4	557	c.383G>A	c.(382-384)gGc>gAc	p.G128D	C1orf110_ENST00000367910.1_Missense_Mutation_p.G129D|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Missense_Mutation_p.G124D			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	175	296	0	218	129										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GTCTTTGAGGCCAGCATCATG	0.463000													1	1	1	1	1	1	1.000000	190	327	0	253	0	0	0	0	0	253	5
PIGC	5279	broad.mit.edu	37	1	172411608	172411608	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:172411608A>T	ENST00000367728.1	-	1	1618	c.155T>A	c.(154-156)gTa>gAa	p.V52E	PIGC_ENST00000258324.1_Missense_Mutation_p.V52E|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.V52E|C1orf105_ENST00000367727.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	53	273	0	157	52					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			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GGACTCAAATACCACAGCCCA	0.493000													1	0	1	1	1	1	1.000000	57	297	0	175	1	9.999995e-01	18	89	0	175	4
CD55	1604	broad.mit.edu	37	1	207499029	207499029	+	Silent	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:207499029T>C	ENST00000367064.3	+	4	799	c.541T>C	c.(541-543)Tta>Cta	p.L181L	CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367062.4_Silent_p.L181L|CD55_ENST00000367065.5_Silent_p.L181L|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000314754.8_Silent_p.L181L|CD55_ENST00000367063.2_Silent_p.L181L|CD55_ENST00000391921.4_Silent_p.L117L|CD55_ENST00000391920.4_Silent_p.L181L	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	18	53	0	50	181	Sushi 3.				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			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	AGGTGGCATATTATTTGGTGC	0.343000													1	1	1	1	1	1	1.000000	22	66	0	60	1	9.969943e-01	3	29	0	60	5
NSL1	25936	broad.mit.edu	37	1	212964986	212964986	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:212964986G>T	ENST00000366977.3	-	1	138	c.120C>A	c.(118-120)tgC>tgA	p.C40*	NSL1_ENST00000422588.2_Nonsense_Mutation_p.C40*|NSL1_ENST00000366975.6_Nonsense_Mutation_p.C40*|NSL1_ENST00000366976.1_Nonsense_Mutation_p.C40*	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	21	154	0	135	40					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GCTTCGAGGTGCAGCGCACCC	0.647000													1	1	1	1	1	1	0.999998	21	160	0	141	1	9.997166e-01	5	99	0	141	5
DISC1	27185	broad.mit.edu	37	1	231954196	231954196	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:231954196G>C	ENST00000439617.2	+	9	1967	c.1914G>C	c.(1912-1914)aaG>aaC	p.K638N	DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000539444.1_3'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.K638N|DISC1_ENST00000602873.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.K638N|DISC1_ENST00000366633.3_Missense_Mutation_p.K638N|DISC1_ENST00000535983.1_Missense_Mutation_p.K638N|DISC1_ENST00000537876.1_Intron|TRAX_ENST00000602962.1_3'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	34	136	0	91	638	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATGTCAAAAAGCTGGGAAGTG	0.478000													1	1	1	1	1	1	1.000000	39	150	0	100	0	0	0	1	0	100	5
OR2T4	127074	broad.mit.edu	37	1	248525325	248525325	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:248525325C>A	ENST00000366475.1	+	1	443	c.443C>A	c.(442-444)gCc>gAc	p.A148D		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	40	75	0	137	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			TTCCTTCTAGCCACCATGGCC	0.527000													1	1	0	1	0	1	1.000000	69	80	0	138	0	0	0	0	0	138	3
OR2T1	26696	broad.mit.edu	37	1	248569431	248569431	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:248569431G>A	ENST00000366474.1	+	1	136	c.136G>A	c.(136-138)Ggc>Agc	p.G46S		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	28	77	0	95	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			ACCTTATATCGGCACAACTGT	0.383000													1	1	1	1	1	1	1.000000	29	85	0	110	0	0	0	0	0	110	5
NRXN1	9378	broad.mit.edu	37	2	50765622	50765622	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:50765622A>C	ENST00000404971.1	-	11	3371	c.2032T>G	c.(2032-2034)Tat>Gat	p.Y678D	NRXN1_ENST00000402717.3_Missense_Mutation_p.Y630D|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.Y638D|NRXN1_ENST00000401669.2_Missense_Mutation_p.Y638D|NRXN1_ENST00000405472.3_Missense_Mutation_p.Y630D|NRXN1_ENST00000406859.3_Missense_Mutation_p.Y638D	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	79	154	0	205	638	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACGTAGCCATAGTTGAGCAGA	0.517000													1	1	1	1	1	1	1.000000	83	163	0	218	0	0	0	0	0	218	5
ZNF638	27332	broad.mit.edu	37	2	71653747	71653747	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:71653747A>T	ENST00000409544.1	+	24	5378	c.4748A>T	c.(4747-4749)aAg>aTg	p.K1583M	ZNF638_ENST00000264447.4_Missense_Mutation_p.K1583M|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.K523M	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	10	44	0	55	1583	Poly-Lys.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAGAAGAAAAAGGGGAAAACT	0.418000													1	1	1	1	1	1	0.998868	11	49	0	62	1	9.998964e-01	16	69	0	62	5
SLC5A7	60482	broad.mit.edu	37	2	108627055	108627055	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:108627055T>G	ENST00000264047.2	+	9	1757	c.1481T>G	c.(1480-1482)aTc>aGc	p.I494S	SLC5A7_ENST00000540517.1_Missense_Mutation_p.I389S|SLC5A7_ENST00000409059.1_Missense_Mutation_p.I494S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	8	22	0	34	494					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AACATTTGCATCTCCTATCTA	0.353000													1	1	1	1	1	1	0.996349	9	25	0	35	0	0	0	0	0	35	5
RIF1	55183	broad.mit.edu	37	2	152331526	152331526	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:152331526T>G	ENST00000243326.4	+	35	7843	c.7360T>G	c.(7360-7362)Tct>Gct	p.S2454A	RIF1_ENST00000453091.2_Missense_Mutation_p.S2428A|RIF1_ENST00000430328.2_Missense_Mutation_p.S2428A|RIF1_ENST00000428287.2_Missense_Mutation_p.S2428A|RIF1_ENST00000444746.2_Missense_Mutation_p.S2454A			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	4	25	0	33	2454	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATGGCAAACTCTGTAATAAA	0.343000													1	0	1	1	1	1	0.942461	5	30	0	39	1	9.742366e-01	15	31	0	39	4
CYTIP	9595	broad.mit.edu	37	2	158272436	158272436	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:158272436G>A	ENST00000264192.3	-	8	954	c.833C>T	c.(832-834)aCg>aTg	p.T278M	CYTIP_ENST00000540637.1_Missense_Mutation_p.T172M	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	13	48	0	72	278	Ser-rich.			T -> Q (in Ref. 5; AAA16575).	regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ATCTGTACTCGTCTGCCGACT	0.542000													1	1	1	1	1	1	0.999728	13	50	0	79	0	6.991544e-01	0	11	0	79	5
KCNH7	90134	broad.mit.edu	37	2	163302838	163302838	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:163302838A>T	ENST00000332142.5	-	7	1343	c.1244T>A	c.(1243-1245)cTg>cAg	p.L415Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.L408Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	5	25	0	50	415					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GACCAACAGCAGGATAAGCCA	0.453000													1	1	1	1	1	1	0.970343	6	25	0	55	0	0	0	0	0	55	5
PGAP1	80055	broad.mit.edu	37	2	197707534	197707534	+	Silent	SNP	A	A	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:197707534A>C	ENST00000354764.3	-	26	2655	c.2541T>G	c.(2539-2541)ctT>ctG	p.L847L		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	34	18	0	65	847					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			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GATCAGGATTAAGTTTAAAAT	0.279000													1	1	1	1	1	1	1.000000	37	19	0	78	1	4.330801e-01	2	0	0	78	5
SGOL1	151648	broad.mit.edu	37	3	20216367	20216367	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:20216367T>A	ENST00000412997.1	-	6	1007	c.656A>T	c.(655-657)aAg>aTg	p.K219M	SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.K219M|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.K219M|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.K219M|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000443724.1_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	5	79	0	53	219					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			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TTCAAAAGACTTCCCTGCCAA	0.373000													1	0	1	1	0	1	0.939430	5	82	0	58	1	8.852411e-01	4	22	0	58	3
SUSD5	26032	broad.mit.edu	37	3	33216515	33216515	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:33216515C>G	ENST00000309558.3	-	4	878	c.461G>C	c.(460-462)cGc>cCc	p.R154P		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	40	70	0	54	154	Sushi.				cell adhesion	integral to membrane	hyaluronic acid binding	p.R154H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAAGCCGGTGCGGCCCTGCAG	0.567000													1	1	1	1	1	1	1.000000	41	77	0	59	1	4.366485e-01	2	2	0	59	5
CCR3	1232	broad.mit.edu	37	3	46306665	46306665	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:46306665G>C	ENST00000357422.2	+	4	559	c.16G>C	c.(16-18)Gat>Cat	p.D6H	CCR3_ENST00000541018.1_Missense_Mutation_p.D6H|CCR3_ENST00000395942.2_Missense_Mutation_p.D6H|CCR3_ENST00000545097.1_Missense_Mutation_p.D27H|CCR3_ENST00000395940.2_Missense_Mutation_p.D6H			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	8	47	0	32	6					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				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AACCTCACTAGATACAGTTGA	0.438000													1	1	1	1	1	1	0.991063	8	52	0	36	0	0	0	0	0	36	5
PLXNA1	5361	broad.mit.edu	37	3	126733148	126733148	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:126733148C>A	ENST00000393409.2	+	11	2534	c.2534C>A	c.(2533-2535)gCc>gAc	p.A845D	PLXNA1_ENST00000251772.4_Missense_Mutation_p.A822D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	4	25	0	9	845					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CACTGCGCTGCCGACACACCT	0.711000													0	0	1	0	0	1	0.894786	4	27	0	10	1	9.254867e-01	13	23	0	10	1
DNAJC13	23317	broad.mit.edu	37	3	132202305	132202305	+	Silent	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:132202305C>G	ENST00000260818.6	+	28	3314	c.3066C>G	c.(3064-3066)tcC>tcG	p.S1022S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	11	84	0	75	1022							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CACTTCAGTCCATACCCCAGC	0.458000													1	1	1	1	1	1	0.998648	11	90	0	82	0	2.396459e-01	1	7	0	82	5
ARMC8	25852	broad.mit.edu	37	3	137942260	137942260	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:137942260C>T	ENST00000469044.1	+	4	495	c.224C>T	c.(223-225)tCa>tTa	p.S75L	ARMC8_ENST00000481646.1_Missense_Mutation_p.S61L|ARMC8_ENST00000393058.3_Missense_Mutation_p.S65L|ARMC8_ENST00000470821.1_Missense_Mutation_p.S75L|ARMC8_ENST00000471453.1_Missense_Mutation_p.S61L|ARMC8_ENST00000489213.1_Missense_Mutation_p.S33L|ARMC8_ENST00000491704.1_Missense_Mutation_p.S33L|ARMC8_ENST00000485396.1_Missense_Mutation_p.S33L|ARMC8_ENST00000461822.1_Missense_Mutation_p.S75L|ARMC8_ENST00000538260.1_Missense_Mutation_p.S75L|ARMC8_ENST00000358441.2_Missense_Mutation_p.S61L	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	37	11	0	41	75							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CAAGAAACCTCAAGCACAGAG	0.383000													1	1	1	1	1	1	1.000000	38	12	0	44	1	1	31	5	0	44	5
CHST2	9435	broad.mit.edu	37	3	142840559	142840559	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:142840559C>T	ENST00000309575.3	+	2	2285	c.901C>T	c.(901-903)Cta>Tta	p.L301L		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	4	17	0	13	301					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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTACCGCACACTAGTCATAAA	0.647000													0	0	1	0	1	1	0.945274	5	18	0	13	1	9.382114e-01	2	20	0	13	2
SLC10A6	345274	broad.mit.edu	37	4	87769942	87769942	+	Silent	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:87769942G>C	ENST00000273905.6	-	1	474	c.327C>G	c.(325-327)ggC>ggG	p.G109G	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	54	16	0	88	109						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TAGAGATGGTGCCCCCCGGGC	0.507000													1	1	0	1	0	1	1.000000	62	17	0	93	0	0	0	0	0	93	3
NR3C2	0	broad.mit.edu	37	4	149356602	149356602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:149356602C>A	ENST00000355292.3	-	2	1773	c.1411G>T	c.(1411-1413)Gga>Tga	p.G471*	NR3C2_ENST00000512865.1_Nonsense_Mutation_p.G471*|NR3C2_ENST00000342437.4_Nonsense_Mutation_p.G471*|NR3C2_ENST00000511528.1_Nonsense_Mutation_p.G471*|NR3C2_ENST00000358102.3_Nonsense_Mutation_p.G471*|NR3C2_ENST00000344721.4_Nonsense_Mutation_p.G471*			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	23	48	0	68	471	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			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CCTAAAATTCCTGATAGGGAA	0.433000													1	1	1	1	1	1	1.000000	23	51	0	74	1	2.392344e-01	2	1	0	74	5
GLRA3	8001	broad.mit.edu	37	4	175649822	175649822	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:175649822G>C	ENST00000274093.3	-	4	797	c.295C>G	c.(295-297)Cag>Gag	p.Q99E	GLRA3_ENST00000436738.1_5'UTR|GLRA3_ENST00000340217.5_Missense_Mutation_p.Q99E	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	24	68	0	55	99					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			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		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)	TTCCATTTCTGACGAAGAAAG	0.378000													1	1	1	1	1	1	1.000000	24	73	0	64	0	0	0	0	0	64	5
MAN2A1	4124	broad.mit.edu	37	5	109117242	109117242	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr5:109117242A>G	ENST00000261483.4	+	9	2572	c.1520A>G	c.(1519-1521)tAt>tGt	p.Y507C		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	14	25	0	23	507					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			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		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)		TGGAGTGGCTATTTTACATCC	0.373000													1	1	1	1	1	1	0.999983	16	28	0	23	1	5.994563e-01	2	3	0	23	5
SLC44A4	80736	broad.mit.edu	37	6	31833747	31833747	+	Missense_Mutation	SNP	C	C	T	rs149591801		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:31833747C>T	ENST00000544672.1	-	14	1458	c.1162G>A	c.(1162-1164)Gtc>Atc	p.V388I	SLC44A4_ENST00000375562.4_Missense_Mutation_p.V422I|SLC44A4_ENST00000229729.6_Missense_Mutation_p.V464I	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	40	73	0	74	464						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.V464I(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCAGCGAGGACGCATTGGCCC	0.557000													1	1	1	1	1	1	1.000000	40	74	0	76	0	0	0	1	0	76	5
EYS	346007	broad.mit.edu	37	6	66204707	66204707	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:66204707G>C	ENST00000503581.1	-	4	1134	c.597C>G	c.(595-597)agC>agG	p.S199R	EYS_ENST00000393380.2_Missense_Mutation_p.S199R|EYS_ENST00000370618.3_Missense_Mutation_p.S199R|EYS_ENST00000370616.2_Missense_Mutation_p.S199R|EYS_ENST00000370621.3_Missense_Mutation_p.S199R|EYS_ENST00000342421.5_Missense_Mutation_p.S199R	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	9	37	0	29	199	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GGCAATGGCAGCTATATGTCT	0.398000													1	1	1	1	1	1	0.995681	9	41	0	30	0	0	0	0	0	30	5
MDN1	23195	broad.mit.edu	37	6	90432736	90432736	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:90432736G>C	ENST00000369393.3	-	40	6020	c.5905C>G	c.(5905-5907)Cct>Gct	p.P1969A	MDN1_ENST00000428876.1_Missense_Mutation_p.P1969A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	34	247	0	194	1969					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		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)		TGCTGACCAGGATCATAACAC	0.468000													1	1	1	1	1	1	1.000000	36	267	0	210	0	0	0	1	0	210	5
IGF2R	3482	broad.mit.edu	37	6	160468851	160468851	+	Missense_Mutation	SNP	C	C	T	rs146539241		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:160468851C>T	ENST00000356956.1	+	17	2405	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	49	109	0	100	753					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			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTACAACTTCCGGTGGTACAC	0.547000													1	0	1	1	1	1	1.000000	56	124	0	119	0	8.967216e-01	1	10	0	119	4
HNRNPA2B1	3181	broad.mit.edu	37	7	26235493	26235493	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:26235493T>C	ENST00000354667.4	-	8	899	c.731A>G	c.(730-732)tAt>tGt	p.Y244C	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.Y232C	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	54	19	0	49	244	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ATACCCATTATAGCCATCCCC	0.363000			T	ETV1	prostate								1	1	1	1	1	1	1.000000	62	24	0	61	1	1	1718	640	0	61	5
PKD1L1	168507	broad.mit.edu	37	7	47898380	47898380	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:47898380T>G	ENST00000289672.2	-	27	4303	c.4253A>C	c.(4252-4254)gAg>gCg	p.E1418A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	20	94	0	87	1418	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCGATGAGCTCAAGCCTCAC	0.493000													1	0	1	1	1	1	1.000000	23	105	0	91	0	0	0	0	0	91	4
MUC17	140453	broad.mit.edu	37	7	100682628	100682628	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:100682628C>T	ENST00000306151.4	+	3	7995	c.7931C>T	c.(7930-7932)cCa>cTa	p.P2644L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	133	523	0	427	2644	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACCATGCCAGTGGCCAGT	0.463000													1	1	1	1	1	1	1.000000	142	585	0	464	0	0	0	0	0	464	5
NAPEPLD	222236	broad.mit.edu	37	7	102760563	102760563	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:102760563C>T	ENST00000417955.1	-	3	556	c.402G>A	c.(400-402)acG>acA	p.T134T	NAPEPLD_ENST00000341533.4_Silent_p.T134T|NAPEPLD_ENST00000465647.1_Silent_p.T134T|NAPEPLD_ENST00000455523.2_Silent_p.T207T|NAPEPLD_ENST00000427257.1_Silent_p.T134T			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	52	63	0	88	134					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCACCATTACCGTGGCATGTC	0.478000													1	1	1	1	1	1	1.000000	52	67	0	91	1	9.965340e-01	10	5	0	91	5
BPGM	669	broad.mit.edu	37	7	134346719	134346719	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:134346719C>T	ENST00000393132.2	+	3	949	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	BPGM_ENST00000344924.3_Missense_Mutation_p.R154W|BPGM_ENST00000418040.1_Missense_Mutation_p.R154W	NM_199186.2	NP_954655.1	P07738	PMGE_HUMAN	2,3-bisphosphoglycerate mutase	3	56	0	55	154					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						TCAACTGCCACGGTCGGAAAG	0.473000													0	0	0	0	1	1	0.812558	3	61	0	59	1	8.394790e-01	9	61	0	59	1
C7orf49	78996	broad.mit.edu	37	7	134851483	134851483	+	Silent	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:134851483C>A	ENST00000424142.1	-	4	791	c.189G>T	c.(187-189)ctG>ctT	p.L63L	C7orf49_ENST00000393114.3_Silent_p.L118L|C7orf49_ENST00000483029.2_Silent_p.L63L|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000430372.1_Silent_p.L117L	NM_001243749.1|NM_001243753.1	NP_001230678.1|NP_001230682.1	Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	29	79	0	98	118						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GGCCTGGAGCCAGTGCCTGTT	0.627000													1	1	1	1	1	1	1.000000	33	89	0	101	1	1	58	94	0	101	5
PRSS58	136541	broad.mit.edu	37	7	141955417	141955417	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:141955417C>A	ENST00000552471.1	-	2	436	c.117G>T	c.(115-117)ttG>ttT	p.L39F	PRSS58_ENST00000547058.2_Missense_Mutation_p.L39F			Q8IYP2	PRS58_HUMAN	protease, serine, 58	25	70	0	69	39	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CAGCGCAGGGCAAGTAGTCAG	0.483000													1	1	1	1	1	1	1.000000	26	74	0	73	0	0	0	0	0	73	5
LOXL2	4017	broad.mit.edu	37	8	23167294	23167294	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:23167294G>A	ENST00000389131.3	-	10	2136	c.1767C>T	c.(1765-1767)ccC>ccT	p.P589P		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	8	48	0	37	589	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGCCCGTGGTGGGGTCGGTCT	0.662000													1	1	1	1	1	1	0.995414	9	52	0	41	1	1	118	739	0	41	5
SPIDR	23514	broad.mit.edu	37	8	48614536	48614536	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:48614536C>G	ENST00000297423.4	+	14	2320	c.1936C>G	c.(1936-1938)Cgt>Ggt	p.R646G	SPIDR_ENST00000518074.1_Missense_Mutation_p.R586G|SPIDR_ENST00000517693.1_Missense_Mutation_p.R121G|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.R576G	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair	13	73	0	35																		TCTTGGTACCCGTTGCAGTTT	0.423000													0	0	1	0	0	1	0.999676	13	74	0	35	1	9.995175e-01	18	64	0	35	1
GDF6	392255	broad.mit.edu	37	8	97172606	97172606	+	Nonsense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:97172606G>C	ENST00000287020.5	-	1	414	c.315C>G	c.(313-315)taC>taG	p.Y105*		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	56	199	0	133	105					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			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CAGCGATGGAGTAAGTCCTGT	0.597000													1	1	1	1	1	1	1.000000	59	209	0	147	0	0	1	0	0	147	5
CTHRC1	115908	broad.mit.edu	37	8	104388056	104388056	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:104388056C>G	ENST00000330295.5	+	2	383	c.241C>G	c.(241-243)Cca>Gca	p.P81A	CTHRC1_ENST00000520337.1_Missense_Mutation_p.P67A|CTHRC1_ENST00000415886.2_Missense_Mutation_p.P81A	NM_138455.3	NP_612464.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	18	123	0	84	81	Collagen-like.					collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			ACCTGGGATCCCAGGTCGGGA	0.527000													1	1	1	1	1	1	0.999994	19	135	0	91	1	1	85	488	0	91	5
SYBU	55638	broad.mit.edu	37	8	110588205	110588205	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:110588205G>T	ENST00000399066.3	-	6	1640	c.913C>A	c.(913-915)Cgc>Agc	p.R305S	SYBU_ENST00000433638.1_Missense_Mutation_p.R308S|SYBU_ENST00000528331.1_Missense_Mutation_p.R189S|SYBU_ENST00000533895.1_Missense_Mutation_p.R307S|SYBU_ENST00000440310.1_Missense_Mutation_p.R308S|SYBU_ENST00000533065.1_Missense_Mutation_p.R189S|SYBU_ENST00000532779.1_Missense_Mutation_p.R240S|SYBU_ENST00000276646.9_Missense_Mutation_p.R308S|SYBU_ENST00000419099.1_Missense_Mutation_p.R307S|SYBU_ENST00000528647.1_Missense_Mutation_p.R307S|SYBU_ENST00000446070.2_Missense_Mutation_p.R307S|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000424158.2_Missense_Mutation_p.R313S|SYBU_ENST00000422135.1_Missense_Mutation_p.R308S|SYBU_ENST00000408908.2_Missense_Mutation_p.R308S|SYBU_ENST00000529690.1_Missense_Mutation_p.R178S|SYBU_ENST00000529175.1_Missense_Mutation_p.R102S|SYBU_ENST00000408889.3_Missense_Mutation_p.R189S|SYBU_ENST00000533171.1_Missense_Mutation_p.R308S	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	24	66	0	46	308	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCTCGCATGCGGGCCAGCTGG	0.433000													1	1	1	1	1	1	1.000000	25	76	0	56	1	3.671562e-01	4	1	0	56	5
LINGO2	158038	broad.mit.edu	37	9	27949585	27949585	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:27949585C>T	ENST00000379992.2	-	6	1534	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R362H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	33	6	0	47	362	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	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)		CCAGAGAAGGCGGCAGTCACA	0.547000													1	1	1	1	1	1	1.000000	33	6	0	47	0	0	1	0	0	47	5
TRMT10B	158234	broad.mit.edu	37	9	37776300	37776300	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:37776300C>T	ENST00000297994.3	+	8	807	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TRMT10B_ENST00000377754.2_Missense_Mutation_p.R153W|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000537911.1_Missense_Mutation_p.R197W|TRMT10B_ENST00000377753.2_Missense_Mutation_p.R170W	NM_144964.2	NP_659401.2			tRNA methyltransferase 10 homolog B (S. cerevisiae)	11	4	0	21																		TCAAAAGGCCCGGGAATACTC	0.338000													1	0	1	1	1	1	0.999865	11	4	0	22	1	9.999925e-01	20	2	0	22	4
TRPM3	80036	broad.mit.edu	37	9	73736211	73736211	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:73736211C>A	ENST00000377110.2	-	1	303	c.60G>T	c.(58-60)ttG>ttT	p.L20F	TRPM3_ENST00000377111.2_Missense_Mutation_p.L20F|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000423814.3_Intron	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	82	6	0	61	20						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACCAGGAAAACAAGAAACTGA	0.512000													1	1	1	1	1	1	1.000000	90	6	0	68	0	0	0	0	0	68	5
SVEP1	79987	broad.mit.edu	37	9	113312294	113312294	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:113312294C>A	ENST00000401783.2	-	2	958	c.622G>T	c.(622-624)Gca>Tca	p.A208S	SVEP1_ENST00000302728.8_Missense_Mutation_p.A208S|SVEP1_ENST00000374461.1_Missense_Mutation_p.A185S|SVEP1_ENST00000374469.1_Missense_Mutation_p.A185S|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	23	85	0	103	208	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGTGACGCTGCAATTGGTCTA	0.443000													1	1	1	1	1	1	1.000000	24	88	0	104	0	0	0	0	0	104	5
COL27A1	85301	broad.mit.edu	37	9	117068960	117068960	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:117068960T>G	ENST00000356083.3	+	58	5490	c.5099T>G	c.(5098-5100)aTg>aGg	p.M1700R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	8	39	0	37	1700	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GAGCAGAAGATGGTGGATGGT	0.607000											OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1	1	1	1	0.906593	10	42	1	42	0	8.673683e-01	4	35	1	42	4
ASTN2	23245	broad.mit.edu	37	9	119582946	119582946	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:119582946C>T	ENST00000313400.4	-	12	2257	c.2157G>A	c.(2155-2157)acG>acA	p.T719T	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.T715T|ASTN2_ENST00000361209.2_Silent_p.T668T			O75129	ASTN2_HUMAN	astrotactin 2	115	11	0	131	719	EGF-like 3.					integral to membrane		p.T668T(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCAGGGGCAGCGTCTGCTGCA	0.577000													1	1	1	1	1	1	1.000000	120	12	0	142	0	0	0	0	0	142	5
C9orf9	11092	broad.mit.edu	37	9	135762851	135762851	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:135762851C>T	ENST00000372136.3	+	3	687	c.240C>T	c.(238-240)tgC>tgT	p.C80C	C9orf9_ENST00000350499.6_Silent_p.C80C|C9orf9_ENST00000356311.5_Silent_p.C80C			Q96E40	CI009_HUMAN	chromosome 9 open reading frame 9	31	225	0	217	80								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		ATAAGCTCTGCCAGCACTTTG	0.537000													1	1	1	1	1	1	1.000000	33	234	0	232	1	8.130761e-01	2	22	0	232	5
YME1L1	10730	broad.mit.edu	37	10	27437875	27437875	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:27437875T>C	ENST00000326799.3	-	2	276	c.128A>G	c.(127-129)cAt>cGt	p.H43R	YME1L1_ENST00000375972.3_Missense_Mutation_p.H43R|YME1L1_ENST00000376016.3_Missense_Mutation_p.H43R|YME1L1_ENST00000477432.1_Missense_Mutation_p.H43R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	127	69	0	203	43					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TACATCTCGATGCTGGTTTTG	0.428000													1	1	1	1	1	1	1.000000	133	73	0	221	1	1	109	29	0	221	5
SVIL	6840	broad.mit.edu	37	10	29843734	29843734	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:29843734G>A	ENST00000375398.2	-	7	587	c.138C>T	c.(136-138)agC>agT	p.S46S	SVIL_ENST00000375400.3_Silent_p.S46S|SVIL_ENST00000355867.4_Silent_p.S46S			O95425	SVIL_HUMAN	supervillin	20	19	0	20	46	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGGCAGGGTCGCTGGCTCTCA	0.592000													1	1	1	1	1	1	1.000000	22	19	0	21	1	9.998512e-01	10	9	0	21	5
PARD3	56288	broad.mit.edu	37	10	34400456	34400456	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:34400456C>G	ENST00000374789.3	-	25	4037	c.3712G>C	c.(3712-3714)Gac>Cac	p.D1238H	PARD3_ENST00000545260.1_Missense_Mutation_p.D1148H|PARD3_ENST00000350537.4_Missense_Mutation_p.D1192H|PARD3_ENST00000346874.4_Missense_Mutation_p.D1201H|PARD3_ENST00000545693.1_Missense_Mutation_p.D1222H|PARD3_ENST00000374794.3_Missense_Mutation_p.D1126H|PARD3_ENST00000374788.3_Missense_Mutation_p.D1235H|PARD3_ENST00000374790.3_Missense_Mutation_p.D1178H	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	32	51	0	77	1238					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			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCCCAAGAGTCCTGGGAGACC	0.567000													1	1	1	1	1	1	1.000000	34	53	0	84	1	1	53	31	0	84	5
AIFM2	84883	broad.mit.edu	37	10	71874719	71874719	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:71874719G>A	ENST00000307864.1	-	8	1140	c.927C>T	c.(925-927)atC>atT	p.I309I	AIFM2_ENST00000373248.1_Silent_p.I309I|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	10	37	0	37	309					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CAGAGTTGACGATGTTGGCCA	0.577000													1	1	1	1	1	1	0.997832	10	42	0	44	1	9.999305e-01	3	88	0	44	5
PTEN	5728	broad.mit.edu	37	10	89692893	89692893	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:89692893C>A	ENST00000371953.3	+	5	1734	c.377C>A	c.(376-378)gCt>gAt	p.A126D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	81	51	0	107	126	Phosphatase 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.0?(37)|p.?(5)|p.R55fs*1(5)|p.A126D(3)|p.A126V(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		CACTGTAAAGCTGGAAAGGGA	0.408000		31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	1	1	1	1	1	1.000000	94	56	0	122	1	1	61	22	0	122	5
MYOF	26509	broad.mit.edu	37	10	95162632	95162632	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:95162632C>A	ENST00000371501.4	-	10	981	c.859G>T	c.(859-861)Gtt>Ttt	p.V287F	MYOF_ENST00000371489.1_Missense_Mutation_p.V287F|MYOF_ENST00000358334.5_Missense_Mutation_p.V287F|MYOF_ENST00000359263.4_Missense_Mutation_p.V287F|MYOF_ENST00000371502.4_Missense_Mutation_p.V287F			Q9NZM1	MYOF_HUMAN	myoferlin	6	22	0	29	287					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCATCATAAACAAATCCAACA	0.299000													1	1	1	1	1	1	0.984895	7	25	0	33	0	5.035227e-01	0	7	0	33	5
PPRC1	23082	broad.mit.edu	37	10	103901271	103901271	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:103901271G>A	ENST00000278070.2	+	5	3045	c.3006G>A	c.(3004-3006)ttG>ttA	p.L1002L	PPRC1_ENST00000370012.1_5'UTR|PPRC1_ENST00000413464.2_Silent_p.L1002L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	7	73	0	59	1002	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CACCTCCTTTGCCTCCAGCCT	0.562000													1	0	1	1	1	1	0.995034	9	78	0	63	1	9.898188e-01	3	72	0	63	4
SLC18A2	6571	broad.mit.edu	37	10	119003729	119003729	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:119003729C>T	ENST00000298472.5	+	3	512	c.369C>T	c.(367-369)gaC>gaT	p.D123D	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	21	85	0	55	123					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AAGACAAAGACCTCCTGAATG	0.527000													1	1	1	1	1	1	0.999999	21	86	0	61	0	0	0	0	0	61	5
SCUBE2	57758	broad.mit.edu	37	11	9074741	9074741	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:9074741G>T	ENST00000457346.2	-	12	1426	c.1352C>A	c.(1351-1353)aCa>aAa	p.T451K	RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.T451K|SCUBE2_ENST00000309263.3_Missense_Mutation_p.T451K|SCUBE2_ENST00000450649.2_Intron			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	34	5	0	40	451						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGACACACTTGTGGGCAGGAG	0.532000													1	1	1	1	1	1	1.000000	37	5	0	50	1	9.873630e-01	3	0	0	50	5
ARRB1	408	broad.mit.edu	37	11	74985231	74985231	+	Silent	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:74985231C>A	ENST00000420843.2	-	11	898	c.801G>T	c.(799-801)acG>acT	p.T267T	ARRB1_ENST00000393505.4_Silent_p.T267T|ARRB1_ENST00000360025.3_Silent_p.T267T	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	33	239	0	204	267					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(4)|large_intestine(2)|lung(4)|prostate(1)	11						CCTTGCAGAACGTCGAGCTGG	0.597000													1	1	1	1	1	1	1.000000	37	269	0	233	0	8.884096e-01	1	29	0	233	5
EXPH5	23086	broad.mit.edu	37	11	108385313	108385313	+	Silent	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:108385313T>C	ENST00000265843.4	-	6	1031	c.921A>G	c.(919-921)aaA>aaG	p.K307K	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Silent_p.K300K|EXPH5_ENST00000428840.1_Silent_p.K231K|EXPH5_ENST00000443411.1_Silent_p.K119K	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	12	23	0	31	307					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		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)		CATAATCTTCTTTAAAGACTC	0.438000													1	1	1	1	1	1	0.999615	12	26	0	32	0	0	0	0	0	32	5
GIT2	9815	broad.mit.edu	37	12	110397663	110397663	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:110397663G>A	ENST00000360185.4	-	12	1252	c.1088C>T	c.(1087-1089)tCg>tTg	p.S363L	GIT2_ENST00000343646.5_Intron|GIT2_ENST00000547815.1_Missense_Mutation_p.S363L|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S363L|GIT2_ENST00000457474.2_Missense_Mutation_p.S365L|GIT2_ENST00000361006.5_Missense_Mutation_p.S363L|GIT2_ENST00000320063.9_Missense_Mutation_p.S363L|GIT2_ENST00000354574.4_Missense_Mutation_p.S365L|GIT2_ENST00000553118.1_Missense_Mutation_p.S363L|GIT2_ENST00000551209.1_Missense_Mutation_p.S362L|GIT2_ENST00000355312.3_Missense_Mutation_p.S363L|GIT2_ENST00000356259.4_Missense_Mutation_p.S363L			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	5	32	0	33	363					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TTTTGAACCCGAGAGAGAACT	0.453000													0	0	1	0	0	1	0.941700	5	36	0	34	1	9.417003e-01	9	32	0	34	1
CUX2	23316	broad.mit.edu	37	12	111785693	111785693	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:111785693C>G	ENST00000261726.6	+	22	4179	c.4025C>G	c.(4024-4026)cCa>cGa	p.P1342R		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	42	145	0	159	1342	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GATGGACTCCCAAAAGTGGCT	0.642000													1	1	1	1	1	1	1.000000	45	162	0	178	0	4.925951e-02	0	2	0	178	5
NOS1	4842	broad.mit.edu	37	12	117703237	117703237	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:117703237G>A	ENST00000317775.6	-	12	2705	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	NOS1_ENST00000338101.4_Missense_Mutation_p.R674W|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	9	8	0	24	674					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			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CAGCCCCCCCGGCAGCGGTAC	0.607000													1	1	1	1	1	1	0.997805	9	10	0	25	0	0	0	0	0	25	5
NBEA	26960	broad.mit.edu	37	13	36242543	36242543	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr13:36242543C>T	ENST00000400445.3	+	57	9171	c.8637C>T	c.(8635-8637)acC>acT	p.T2879T	NBEA_ENST00000537702.1_Silent_p.T672T|NBEA_ENST00000379939.2_Silent_p.T2876T|NBEA_ENST00000379922.3_Silent_p.T457T|NBEA_ENST00000540320.1_Silent_p.T2879T|NBEA_ENST00000310336.4_Silent_p.T2879T	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	14	0	0	14	2879						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		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)		ACCTGGTCACCGGAGGGGACA	0.443000													1	0	1	1	0	1	1.000000	14	0	0	14	1	8.823529e-01	2	0	0	14	3
FNDC3A	22862	broad.mit.edu	37	13	49775991	49775991	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr13:49775991G>A	ENST00000492622.2	+	24	3348	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K	FNDC3A_ENST00000398316.3_Missense_Mutation_p.E959K|FNDC3A_ENST00000541916.1_Missense_Mutation_p.E1015K	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	32	8	0	33	1015	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		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)		AAGACTTAATGAGTCAACATC	0.358000													1	1	1	1	1	1	1.000000	32	9	0	34	1	9.999830e-01	11	1	0	34	5
ATP11A	23250	broad.mit.edu	37	13	113488914	113488914	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr13:113488914C>T	ENST00000487903.1	+	15	1659	c.1571C>T	c.(1570-1572)aCc>aTc	p.T524I	ATP11A_ENST00000375645.3_Missense_Mutation_p.T524I|ATP11A_ENST00000283558.8_Missense_Mutation_p.T524I|ATP11A_ENST00000375630.2_Missense_Mutation_p.T524I			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	49	214	0	151	524					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			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	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)				CTTGGCTTTACCTACCTAAGG	0.423000													1	1	1	1	1	1	1.000000	56	236	0	180	1	2.509921e-01	2	3	0	180	5
LRFN5	145581	broad.mit.edu	37	14	42360910	42360910	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr14:42360910G>T	ENST00000298119.4	+	4	3032	c.1843G>T	c.(1843-1845)Gaa>Taa	p.E615*	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	16	36	0	29	615						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCAATCTTCAGAAACTTGTTC	0.483000										HNSCC(30;0.082)			1	1	1	1	1	1	0.999977	16	39	0	30	0	0	0	0	0	30	5
NPAP1	23742	broad.mit.edu	37	15	24922694	24922694	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:24922694C>T	ENST00000329468.2	+	1	2154	c.1680C>T	c.(1678-1680)aaC>aaT	p.N560N		NM_018958.2	NP_061831.2			nuclear pore associated protein 1	44	73	0	119																		TCACAACAAACGCATCTGCCC	0.473000													1	1	1	1	1	1	1.000000	46	73	0	123	0	0	0	0	0	123	5
RCN2	5955	broad.mit.edu	37	15	77224706	77224706	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:77224706A>C	ENST00000394885.3	+	2	372	c.149A>C	c.(148-150)gAt>gCt	p.D50A	RCN2_ENST00000320963.5_Missense_Mutation_p.D50A|RCN2_ENST00000394883.3_Intron	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	15	7	0	31	50						endoplasmic reticulum lumen	calcium ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						CTAAAGGAAGATGTGGATGAA	0.473000													1	1	1	1	1	1	0.999995	15	7	0	33	1	1	32	28	0	33	5
MESDC1	59274	broad.mit.edu	37	15	81294956	81294956	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:81294956T>C	ENST00000267984.2	+	1	1662	c.344T>C	c.(343-345)cTg>cCg	p.L115P		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	3	16	0	26	115										endometrium(1)|lung(2)	3						CTGGTGGAGCTGGGCGACCTG	0.726000													0	0	1	0	0	1	0.896421	4	19	0	28	1	9.576384e-01	4	29	0	28	1
CACNA1H	8912	broad.mit.edu	37	16	1251811	1251811	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr16:1251811G>A	ENST00000348261.5	+	9	1609	c.1361G>A	c.(1360-1362)gGc>gAc	p.G454D	CACNA1H_ENST00000358590.4_Missense_Mutation_p.G454D|CACNA1H_ENST00000565831.1_Missense_Mutation_p.G454D	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	12	0	0	9	454					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(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCCGAGCCTGGCAGCTGCTAC	0.657000													1	1	1	1	1	1	0.999999	13	0	0	10	0	0	0	0	0	10	5
XAF1	54739	broad.mit.edu	37	17	6676464	6676464	+	Silent	SNP	A	A	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:6676464A>G	ENST00000361842.3	+	7	1121	c.882A>G	c.(880-882)ggA>ggG	p.G294G	XAF1_ENST00000441631.1_Silent_p.G294G|XAF1_ENST00000346752.4_Silent_p.G275G	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	5	19	0	24	294					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CATCAAAAGGAAAACAAGTGA	0.353000													1	0	1	1	1	1	0.943789	5	23	0	29	0	3.440573e-01	0	6	0	29	4
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	26	0	0	26	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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 -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	26	0	0	27	1	1	182	4	0	27	5
ALOX15B	247	broad.mit.edu	37	17	7950683	7950683	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:7950683A>T	ENST00000380183.4	+	11	1704	c.1565A>T	c.(1564-1566)aAc>aTc	p.N522I	ALOX15B_ENST00000573359.1_Intron|ALOX15B_ENST00000380173.2_Missense_Mutation_p.N493I|ALOX15B_ENST00000572022.1_Missense_Mutation_p.N510I	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	8	34	0	59	522	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GGCTTCCTAAACCAGGAGAGC	0.567000													1	1	1	1	1	1	0.997974	10	35	0	63	0	0	0	0	0	63	5
FAM83G	644815	broad.mit.edu	37	17	18881910	18881910	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:18881910C>A	ENST00000388995.6	-	5	1292	c.1069G>T	c.(1069-1071)Gtc>Ttc	p.V357F	SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V357F|FAM83G_ENST00000585154.2_Missense_Mutation_p.V357F			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	34	58	0	89	357										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ATCTCGTCGACGCTCTTGGCC	0.627000													1	1	1	1	1	1	1.000000	35	59	0	94	0	7.968074e-01	0	7	0	94	5
CORO6	84940	broad.mit.edu	37	17	27945807	27945807	+	Splice_Site	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:27945807C>G	ENST00000345068.5	-	5	847		c.e5+1		CORO6_ENST00000584969.1_Splice_Site|CORO6_ENST00000580212.1_Splice_Site|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000445145.2_Splice_Site|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000388767.3_Splice_Site			Q6QEF8	CORO6_HUMAN	coronin 6	15	25	0	33						actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CAGGCACTCACCGCCACCACT	0.602000													1	1	1	1	1	1	0.999965	15	26	0	36	0	3.162791e-01	1	2	0	36	5
POTEC	388468	broad.mit.edu	37	18	14542810	14542810	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr18:14542810G>T	ENST00000358970.5	-	1	335	c.336C>A	c.(334-336)agC>agA	p.S112R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	121	163	1	231	112										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCTTGCCGCTCCCCCTGC	0.592000													1	0	1	1	0	1	1.000000	128	171	1	229	0	0	0	0	1	229	3
CDH2	1000	broad.mit.edu	37	18	25585840	25585840	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr18:25585840C>A	ENST00000269141.3	-	6	1243	c.820G>T	c.(820-822)Ggg>Tgg	p.G274W	CDH2_ENST00000399380.3_Missense_Mutation_p.G243W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	28	106	0	55	274	Cadherin 2.				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			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGAACTGTCCCATTCCAAACC	0.388000													1	0	1	1	1	1	1.000000	32	122	0	68	1	5.257798e-01	3	5	0	68	4
SLC14A2	8170	broad.mit.edu	37	18	43252989	43252989	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr18:43252989G>T	ENST00000255226.6	+	17	3170	c.2354G>T	c.(2353-2355)gGa>gTa	p.G785V	SLC14A2_ENST00000589658.1_Missense_Mutation_p.G262V|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.G785V	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	37	122	0	101	785						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGCAATTGGATCCACCATG	0.527000													1	1	1	1	1	1	1.000000	44	135	0	119	0	0	0	0	0	119	5
C19orf59	199675	broad.mit.edu	37	19	7743070	7743070	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:7743070C>T	ENST00000333598.3	+	3	719	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	C19orf59_ENST00000597445.1_Missense_Mutation_p.L46F	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN	chromosome 19 open reading frame 59	31	188	0	157	89						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CCTGTACATCCTCCTGGCCCT	0.592000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	32	190	0	160	0	0	0	1	0	160	5
FCHO1	23149	broad.mit.edu	37	19	17899082	17899082	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:17899082C>T	ENST00000594202.1	+	29	2930	c.2651C>T	c.(2650-2652)gCa>gTa	p.A884V	FCHO1_ENST00000595033.1_Intron|FCHO1_ENST00000596536.1_Intron|FCHO1_ENST00000600676.1_Intron|FCHO1_ENST00000389133.4_Intron|FCHO1_ENST00000596951.1_Intron|FCHO1_ENST00000539407.1_Intron|FCHO1_ENST00000597512.1_Intron|FCHO1_ENST00000252771.7_Intron	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	13	12	0	20	0										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CTCACAGCTGCACCCCCACAG	0.647000													1	0	1	1	0	1	0.999986	15	13	0	21	0	0	0	0	0	21	3
ZNF780A	284323	broad.mit.edu	37	19	40581487	40581487	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:40581487G>A	ENST00000450241.2	-	6	1071	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.R289C|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R289C|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.R288C|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R288C			O75290	Z780A_HUMAN	zinc finger protein 780A	78	128	0	168	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R254C(1)|p.R289C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTGCACCACGATTAAAGCCT	0.388000													1	1	1	1	1	1	1.000000	83	136	0	177	0	0	0	0	0	177	5
LTBP4	8425	broad.mit.edu	37	19	41111336	41111336	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:41111336C>G	ENST00000308370.7	+	6	669	c.669C>G	c.(667-669)caC>caG	p.H223Q	LTBP4_ENST00000396819.3_Missense_Mutation_p.H156Q|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.H186Q|LTBP4_ENST00000545697.1_5'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	13	51	0	41	223					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)			TGAGCGTCCACGTGGAGCACC	0.692000													1	1	1	1	0	1	0.999933	15	56	0	47	1	6.622936e-01	3	7	0	47	4
DMPK	1760	broad.mit.edu	37	19	46274875	46274875	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:46274875G>A	ENST00000600757.1	-	11	2253	c.1566C>T	c.(1564-1566)gtC>gtT	p.V522V	DMPK_ENST00000354227.5_Silent_p.V512V|DMPK_ENST00000343373.4_Silent_p.V527V|AC074212.6_ENST00000586498.1_RNA|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000447742.2_Silent_p.V512V|AC074212.6_ENST00000591530.1_RNA|DMPK_ENST00000458663.2_Silent_p.V512V|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000291270.4_Silent_p.V517V			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	18	51	0	56	527					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		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)		GCAACTGCCGGACGTGTGCCT	0.672000													1	1	1	1	1	1	0.999999	20	55	0	62	1	9.999996e-01	21	64	0	62	5
NTN5	126147	broad.mit.edu	37	19	49174007	49174007	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:49174007G>A	ENST00000270235.4	-	2	332	c.237C>T	c.(235-237)agC>agT	p.S79S	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	33	20	0	31	79						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						AGAAGCGCAAGCTGACAGATG	0.667000													1	1	1	1	1	1	1.000000	35	21	0	34	0	0	0	0	0	34	5
PPP2R1A	5518	broad.mit.edu	37	19	52715982	52715982	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:52715982C>T	ENST00000322088.6	+	5	605	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R128W|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R4W	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	59	41	0	111	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen 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	p.R183W(22)|p.R183G(2)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CATGGTGCGGCGGGCCGCAGC	0.617000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	1.000000	59	53	0	112	1	1	334	316	0	112	5
ZNF749	388567	broad.mit.edu	37	19	57956698	57956698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:57956698G>T	ENST00000334181.4	+	3	2432	c.2182G>T	c.(2182-2184)Gaa>Taa	p.E728*	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	23	62	0	67	728					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		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)		TAAGTTAAGGGAATGTGGGAA	0.403000													1	1	1	1	1	1	1.000000	25	65	0	75	1	6.243568e-01	2	5	0	75	5
PROCR	10544	broad.mit.edu	37	20	33764024	33764024	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr20:33764024A>G	ENST00000216968.4	+	3	458	c.376A>G	c.(376-378)Aga>Gga	p.R126G	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	33	98	1	101	126					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CGAGGGCTCTAGAGCCCATGT	0.607000													1	0	1	1	1	1	0.999999	33	105	1	110	1	9.975310e-01	13	29	1	110	4
TNRC6B	23112	broad.mit.edu	37	22	40711382	40711382	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr22:40711382T>C	ENST00000454349.2	+	20	4985	c.4774T>C	c.(4774-4776)Tcc>Ccc	p.S1592P	TNRC6B_ENST00000301923.9_Missense_Mutation_p.S788P|TNRC6B_ENST00000335727.8_Missense_Mutation_p.S1482P|TNRC6B_ENST00000402203.1_Missense_Mutation_p.S788P	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	7	70	0	74	1592					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						CCATATTTCCTCCAGGAACAC	0.537000													1	1	1	1	0	1	0.982212	7	74	0	77	0	7.520647e-01	1	29	0	77	4
VCX	26609	broad.mit.edu	37	X	7811258	7811258	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:7811258C>T	ENST00000381059.3	+	2	233	c.14C>T	c.(13-15)cCg>cTg	p.P5L	VCX_ENST00000341408.4_Missense_Mutation_p.P5L	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	30	221	0	292	5					chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				AGTCCAAAGCCGAGAGCCTCG	0.622000													1	0	1	1	0	1	1.000000	32	249	0	216	0	0	0	1	0	216	3
MAGEB6	158809	broad.mit.edu	37	X	26212812	26212812	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:26212812G>A	ENST00000379034.1	+	2	998	c.849G>A	c.(847-849)ccG>ccA	p.P283P		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	30	271	0	174	283	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGCGCTGCCGAAGTCGGGTC	0.527000													1	1	1	1	0	1	1.000000	32	291	0	194	0	0	0	1	0	194	4
HDAC6	10013	broad.mit.edu	37	X	48673986	48673986	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:48673986C>A	ENST00000334136.5	+	16	1439	c.1261C>A	c.(1261-1263)Cag>Aag	p.Q421K	HDAC6_ENST00000444343.2_Missense_Mutation_p.Q435K|HDAC6_ENST00000376619.2_Missense_Mutation_p.Q421K			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	23	88	0	58	421					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			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CTGCAGTGCCCAGGCTTCAGT	0.617000													1	1	1	1	1	1	1.000000	24	96	0	65	0	9.999476e-01	0	69	0	65	5
PPP1R3F	89801	broad.mit.edu	37	X	49142813	49142813	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:49142813C>T	ENST00000055335.6	+	4	1677	c.1661C>T	c.(1660-1662)aCg>aTg	p.T554M	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.T208M|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.T225M	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	38	15	0	33	554						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GAGGAGATCACGCTGCACTAT	0.647000													1	1	1	1	1	1	1.000000	41	15	0	35	1	1	22	0	0	35	5
RGAG4	340526	broad.mit.edu	37	X	71350291	71350291	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:71350291C>A	ENST00000545866.1	-	1	1467	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	RGAG4_ENST00000479991.1_Missense_Mutation_p.R367M|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	7	21	0	32	367										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CTGAAAAGCCCTCATGCGCTT	0.488000													1	1	1	1	1	1	0.985528	7	21	0	33	1	9.533415e-01	9	11	0	33	5
SRPX2	27286	broad.mit.edu	37	X	99917215	99917215	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:99917215C>T	ENST00000373004.3	+	4	634	c.206C>T	c.(205-207)gCc>gTc	p.A69V		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	13	123	0	73	69	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GATGGAGAAGCCACATGCTAC	0.488000													1	1	1	1	1	1	0.999902	15	127	0	80	1	9.638949e-01	3	46	0	80	5
TEX13B	0	broad.mit.edu	37	X	107225158	107225158	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:107225158C>A	ENST00000302917.1	-	2	292	c.200G>T	c.(199-201)tGc>tTc	p.C67F		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	165	18	0	155	67										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GCCCCAGGTGCAGGCCTCTTT	0.592000													1	1	1	1	1	1	1.000000	180	19	0	169	0	0	0	0	0	169	5
LYST	1130	broad.mit.edu	37	1	235955054	235955055	+	Frame_Shift_Ins	INS	-	-	TTTT			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:235955054_235955055insTTTT	ENST00000389794.3	-	12	4661_4662	c.4487_4488insAAAA	c.(4486-4488)aatfs	p.N1496fs	LYST_ENST00000389793.2_Frame_Shift_Ins_p.N1496fs|LYST_ENST00000536965.1_Intron			Q99698	LYST_HUMAN	lysosomal trafficking regulator	79	41	0	73	1496					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			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	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)			TTTTCTTTATCTTCTTTCCTTT	0.361000													1	1	1	1	0	1	1.000000	80	134	0	74							4
SLC10A6	345274	broad.mit.edu	37	4	87769940	87769941	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:87769940_87769941insT	ENST00000273905.6	-	1	475_476	c.328_329insA	c.(328-330)catfs	p.H110fs	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	59	29	0	92	110						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GTTAGAGATGGTGCCCCCCGGG	0.515000													1	1	1	1	0	1	1.000000	61	93	0	95							4
MAP3K4	4216	broad.mit.edu	37	6	161507690	161507691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:161507690_161507691insT	ENST00000392142.4	+	9	2695_2696	c.2547_2548insT	c.(2545-2550)caatgtfs	p.QC849fs	MAP3K4_ENST00000348824.7_Frame_Shift_Ins_p.QC849fs|MAP3K4_ENST00000366920.2_Frame_Shift_Ins_p.QC849fs|MAP3K4_ENST00000366919.2_Frame_Shift_Ins_p.QC849fs	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	18	27	0	34	849					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			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		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)		AATCAAAACAGTATGTCAAGGT	0.381000													1	1	1	1	0	1	0.999994	18	46	0	34	1	9.242532e-01	3	11	0	34	4
VPS13B	157680	broad.mit.edu	37	8	100887728	100887728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:100887728delC	ENST00000358544.2	+	62	12014	c.11903delC	c.(11902-11904)gcfs	p.A3968fs	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.A3943fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	27	118	0	95	3968					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGTCACCTGGCCCCCAGCTGT	0.478000													1	1	1	1	0	1	1.000000	27	147	0	97	1	9.518004e-01	5	25	0	97	4
WNK2	65268	broad.mit.edu	37	9	96021235	96021245	+	Frame_Shift_Del	DEL	CCCCCATCACG	CCCCCATCACG	-	rs149576658		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:96021235_96021245delCCCCCATCACG	ENST00000297954.4	+	11	2405_2415	c.2405_2415delCCCCCATCACG	c.(2404-2415)cfs	p.PPIT802fs	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Frame_Shift_Del_p.PPIT414fs|WNK2_ENST00000395477.2_Frame_Shift_Del_p.PPIT802fs|WNK2_ENST00000395475.2_Frame_Shift_Del_p.PPIT736fs|WNK2_ENST00000427277.2_Frame_Shift_Del_p.PPIT414fs			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	12	32	0	57	802					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTGTTGTGCCCCCCATCACGCCCCTGGCGG	0.649000													1	1	1	1	0	1	0.999760	13	40	0	61	0	1.662679e-01	0	3	0	61	4
PLEKHA4	0	broad.mit.edu	37	19	49362194	49362200	+	Frame_Shift_Del	DEL	GGCGGGG	GGCGGGG	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			GGCGGGG	-	GGCGGGG	GGCGGGG		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:49362194_49362200delGGCGGGG	ENST00000263265.6	-	8	1444_1450	c.889_895delCCCCGCC	c.(889-897)gafs	p.PRR297fs	PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Frame_Shift_Del_p.PRR297fs	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	13	106	0	102	297	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		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)		GGAGGTCCTCGGCGGGGAGTAGGGGGT	0.662000													1	0	1	1	0	1	0.999994	19	111	0	94	0	9.974141e-01	0	60	0	94	3
ESF1	51575	broad.mit.edu	37	20	13695536	13695537	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr20:13695536_13695537insT	ENST00000202816.1	-	14	2647_2648	c.2540_2541insA	c.(2539-2541)acafs	p.T847fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	23	13	0	26	847	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TGACTTTTTGCTTTTTTCTTGC	0.302000													1	1	1	1	0	1	1.000000	23	37	0	26	1	1	45	92	0	26	4
LTN1	26046	broad.mit.edu	37	21	30302792	30302799	+	Frame_Shift_Del	DEL	AGTGGACA	AGTGGACA	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr21:30302792_30302799delAGTGGACA	ENST00000361371.4	-	30	5422_5429	c.5272_5279delTGTCCACT	c.(5272-5280)gfs	p.CPL1758fs	LTN1_ENST00000389194.2_Frame_Shift_Del_p.CPL1804fs	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	19	58	0	63	1758							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CTCACGACACAGTGGACAAGTGGATTTG	0.361000													1	1	1	1	0	1	0.999998	20	75	0	63	0	9.220683e-01	0	19	0	63	4
DENND2C	163259	broad.mit.edu	37	1	115143531	115143531	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:115143531G>A	ENST00000393274.1	-	14	2491	c.1866C>T	c.(1864-1866)taC>taT	p.Y622Y	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Silent_p.Y622Y|DENND2C_ENST00000393276.3_Silent_p.Y565Y	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	24	43	0	86	622	DENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	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)		GCATGAATGGGTAAACAAGGG	0.418000													1	1	1	1	1	1	1.000000	26	43	0	99	0	1.478873e-01	1	1	0	99	5
NTRK1	4914	broad.mit.edu	37	1	156841545	156841545	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:156841545C>A	ENST00000368196.3	+	7	968	c.848C>A	c.(847-849)tCc>tAc	p.S283Y	NTRK1_ENST00000392302.2_Missense_Mutation_p.S253Y|NTRK1_ENST00000358660.3_Missense_Mutation_p.S283Y|NTRK1_ENST00000524377.1_Missense_Mutation_p.S283Y	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	9	72	0	94	283	Ig-like C2-type 1.				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			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GTCAACGTCTCCTGTGAGTCT	0.582000			T	TPM3, TPR, TFG	papillary thyroid					TSP Lung(10;0.080)			1	1	1	1	1	1	0.999325	12	84	0	105	1	4.767209e-01	2	10	0	105	5
LYST	1130	broad.mit.edu	37	1	235969411	235969411	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:235969411G>C	ENST00000389794.3	-	6	3199	c.3025C>G	c.(3025-3027)Caa>Gaa	p.Q1009E	LYST_ENST00000536965.1_Missense_Mutation_p.Q1009E|LYST_ENST00000389793.2_Missense_Mutation_p.Q1009E			Q99698	LYST_HUMAN	lysosomal trafficking regulator	36	50	0	68	1009					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			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	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)			TTTTTTCCTTGCTCCTCTTTG	0.348000													1	1	1	1	1	1	1.000000	39	55	0	72	0	3.773932e-01	0	3	0	72	5
OR2B11	127623	broad.mit.edu	37	1	247614475	247614475	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:247614475G>A	ENST00000318749.6	-	1	833	c.810C>T	c.(808-810)taC>taT	p.Y270Y		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	15	176	0	229	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	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)			GCTCTTGGGAGTAGCTGGAAG	0.493000													1	1	1	1	0	1	0.999986	18	198	0	245	0	0	0	0	0	245	4
FAM161A	84140	broad.mit.edu	37	2	62067002	62067002	+	Silent	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:62067002A>G	ENST00000404929.1	-	3	1148	c.1137T>C	c.(1135-1137)taT>taC	p.Y379Y	FAM161A_ENST00000405894.3_Silent_p.Y379Y	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	51	42	0	73	379					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TAAGGTTTCGATAGAGCTCTT	0.433000													1	1	1	1	1	1	1.000000	52	45	0	75	1	9.854152e-01	7	2	0	75	5
UGGT1	56886	broad.mit.edu	37	2	128938646	128938646	+	Splice_Site	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			G	C	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:128938646G>C	ENST00000375990.3	+	36	4414	c.4011_splice	c.e36+1	p.Q1337_splice	UGGT1_ENST00000259253.6_Splice_Site_p.Q1361_splice			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	29	43	0	84	1361	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			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATGCTGATCAGGTAGGCCCTT	0.378000													1	1	1	1	1	1	1.000000	30	47	0	90	0	9.999983e-01	0	41	0	90	5
FIGN	55137	broad.mit.edu	37	2	164467497	164467497	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:164467497G>T	ENST00000333129.3	-	3	1159	c.845C>A	c.(844-846)cCc>cAc	p.P282H	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	32	38	0	100	282	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TAGGGGGGTGGGAGCAGGAAT	0.602000													1	1	1	1	1	1	1.000000	35	43	0	109	0	2.055556e-01	1	1	0	109	5
ABCA12	26154	broad.mit.edu	37	2	215815735	215815735	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:215815735C>G	ENST00000272895.7	-	45	6939	c.6720G>C	c.(6718-6720)gaG>gaC	p.E2240D	ABCA12_ENST00000389661.4_Missense_Mutation_p.E1922D|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	81	93	0	152	2240					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		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)		CTCTTAATCTCTCAGCCCGCA	0.383000													1	1	1	1	1	1	1.000000	85	101	0	172	0	0	0	0	0	172	5
OBSL1	23363	broad.mit.edu	37	2	220421348	220421348	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:220421348G>A	ENST00000404537.1	-	13	4220	c.4164C>T	c.(4162-4164)gcC>gcT	p.A1388A	OBSL1_ENST00000603926.1_Silent_p.A1388A|OBSL1_ENST00000265318.4_Silent_p.A1296A|OBSL1_ENST00000373876.1_Silent_p.A1296A|OBSL1_ENST00000265317.5_Silent_p.A287A	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	24	56	0	80	1388	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						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)		AGGTGACATCGGCATCTGGTG	0.617000													1	1	1	1	1	1	1.000000	28	60	0	85	1	1	43	33	0	85	5
MRPL44	65080	broad.mit.edu	37	2	224831613	224831613	+	Silent	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr2:224831613A>G	ENST00000258383.3	+	4	930	c.861A>G	c.(859-861)gaA>gaG	p.E287E	AC073641.2_ENST00000425192.1_RNA	NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	40	105	0	111	287	DRBM.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GACCTGGGGAAACAGTATTGG	0.403000													1	1	1	1	0	1	1.000000	45	116	0	125	1	1	48	99	0	125	4
PTPN23	25930	broad.mit.edu	37	3	47451557	47451557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:47451557C>T	ENST00000265562.4	+	20	2346	c.2269C>T	c.(2269-2271)Cga>Tga	p.R757*	PTPN23_ENST00000431726.1_Nonsense_Mutation_p.R631*	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	3	14	0	34	757	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCTGGCCCACGACTGCCTGA	0.677000													0	0	1	0	1	1	0.813364	3	14	0	36	1	9.945594e-01	32	39	0	36	2
ARHGAP31	57514	broad.mit.edu	37	3	119013766	119013766	+	Silent	SNP	T	T	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:119013766T>A	ENST00000264245.4	+	1	547	c.15T>A	c.(13-15)ggT>ggA	p.G5G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	9	80	0	109	5					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGAACAAGGGTGCTAAGCAGA	0.587000													1	1	1	1	0	1	0.997364	10	89	0	129	0	3.391657e-02	0	3	0	129	4
PIK3CA	5290	broad.mit.edu	37	3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr3:178916936G>A	ENST00000263967.3	+	2	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	58	37	1	82	108	PI3K-ABD.				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.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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)			GTAGGCAACCGTGAAGAAAAG	0.338000		57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	1.000000	61	38	1	89	1	9.995635e-01	9	3	1	89	5
SEC31A	22872	broad.mit.edu	37	4	83793139	83793139	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr4:83793139C>A	ENST00000432794.1	-	7	903	c.740G>T	c.(739-741)cGa>cTa	p.R247L	SEC31A_ENST00000509142.1_Missense_Mutation_p.R247L|SEC31A_ENST00000508502.1_Missense_Mutation_p.R247L|SEC31A_ENST00000505984.1_Missense_Mutation_p.R247L|SEC31A_ENST00000505472.1_Missense_Mutation_p.R247L|SEC31A_ENST00000500777.2_Missense_Mutation_p.R247L|SEC31A_ENST00000448323.1_Missense_Mutation_p.R247L|SEC31A_ENST00000443462.2_Missense_Mutation_p.R242L|SEC31A_ENST00000355196.2_Missense_Mutation_p.R247L|SEC31A_ENST00000326950.5_Missense_Mutation_p.R247L|SEC31A_ENST00000508479.1_Missense_Mutation_p.R247L|SEC31A_ENST00000311785.7_Missense_Mutation_p.R247L|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000395310.2_Missense_Mutation_p.R247L|SEC31A_ENST00000348405.4_Missense_Mutation_p.R247L|SEC31A_ENST00000513858.1_Missense_Mutation_p.R247L			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	44	14	0	63	247	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/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GGAAGCAAATCGAAGATCCCA	0.473000													1	1	1	1	1	1	1.000000	45	14	0	67	1	1	136	18	0	67	5
DMP1	1758	broad.mit.edu	37	4	88584263	88584263	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr4:88584263G>A	ENST00000339673.6	+	6	1432	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.E429K	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	70	17	0	94	445					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		GAGTCAGAGCGAGGAAAGCCA	0.542000													1	1	1	1	1	1	1.000000	72	17	0	95	0	0	1	0	0	95	5
DSP	1832	broad.mit.edu	37	6	7580595	7580595	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:7580595A>G	ENST00000379802.3	+	23	4513	c.4172A>G	c.(4171-4173)tAc>tGc	p.Y1391C	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	46	79	0	178	1391	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ACCAGTGGCTACCGGGCTCAG	0.463000													1	1	1	1	1	1	1.000000	50	87	0	194	1	1	104	23	0	194	5
ZFP57	346171	broad.mit.edu	37	6	29641083	29641083	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:29641083G>A	ENST00000376883.1	-	6	1156	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	ZFP57_ENST00000376881.3_Missense_Mutation_p.R249W|ZFP57_ENST00000488757.1_Missense_Mutation_p.R269W			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	40	83	0	185	185					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GACTGGTCCCGGAAGCTCTTC	0.557000													1	1	1	1	1	1	1.000000	44	91	0	204	0	0	1	0	0	204	5
C2	717	broad.mit.edu	37	6	31913052	31913052	+	Missense_Mutation	SNP	G	G	C	rs147553278		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:31913052G>C	ENST00000299367.5	+	18	2453	c.2177G>C	c.(2176-2178)cGa>cCa	p.R726P	C2_ENST00000469372.1_Missense_Mutation_p.R480P|CFB_ENST00000556679.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000468407.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.R594P|CFB_ENST00000456570.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.R512P	NM_000063.4	NP_000054.2			complement component 2	26	61	0	127											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CCGCCGCCACGAGACTTTCAC	0.587000													1	1	1	1	1	1	1.000000	28	72	0	138	1	1	249	327	0	138	5
HLA-DQA1	3117	broad.mit.edu	37	6	32609250	32609250	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:32609250G>A	ENST00000343139.5	+	2	348	c.246G>A	c.(244-246)ccG>ccA	p.P82P	HLA-DQA1_ENST00000395363.1_Silent_p.P82P|HLA-DQA1_ENST00000374949.2_Silent_p.P82P	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	20	13	0	45	81	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			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GTTTTGACCCGCAGGGTGCAC	0.502000													1	1	1	1	0	1	1.000000	20	25	0	46	0	1	1	129	0	46	4
PHF1	5252	broad.mit.edu	37	6	33383699	33383699	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:33383699C>T	ENST00000374516.3	+	15	1799	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C	PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	48	92	0	188	510					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCTTCCTAGACGCTCAGCACC	0.592000													1	1	1	1	1	1	1.000000	52	95	0	198	1	1	63	97	0	198	5
GPR63	0	broad.mit.edu	37	6	97246772	97246772	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:97246772T>A	ENST00000229955.3	-	2	1181	c.836A>T	c.(835-837)tAc>tTc	p.Y279F	GPR63_ENST00000417980.1_Missense_Mutation_p.Y279F	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	19	64	0	98	279						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		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)		ACCTTCAGGGTAGCTATGGAT	0.468000													1	1	1	1	1	1	0.999996	19	65	0	101	0	0	0	1	0	101	5
SLC22A3	6581	broad.mit.edu	37	6	160858039	160858039	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr6:160858039G>A	ENST00000392145.1	+	7	1111	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	SLC22A3_ENST00000275300.2_Missense_Mutation_p.A362T			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	10	102	0	119	362						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		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)		GTTCACAAGCGCAGTGGTGTA	0.448000													1	1	1	1	0	1	0.998583	11	114	0	129	0	0	0	0	0	129	4
GCK	2645	broad.mit.edu	37	7	44185169	44185169	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:44185169G>A	ENST00000403799.3	-	9	1649	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C	GCK_ENST00000437084.1_Missense_Mutation_p.R377C|GCK_ENST00000395796.3_Missense_Mutation_p.R393C|GCK_ENST00000345378.2_Missense_Mutation_p.R395C	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	9	20	0	12	394					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			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CGGCTCTCGCGCATGCGGTTG	0.692000													0	1	1	1	1	1	0.996615	9	21	0	14	0	4.899627e-01	0	5	0	14	4
GRM3	0	broad.mit.edu	37	7	86468552	86468552	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:86468552C>T	ENST00000361669.2	+	4	2821	c.1722C>T	c.(1720-1722)gaC>gaT	p.D574D	GRM3_ENST00000546348.1_Silent_p.D166D|GRM3_ENST00000536043.1_Silent_p.D446D|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	36	57	0	106	574					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGTGGGAAGACGCCTGGGCCA	0.498000													1	1	1	1	1	1	1.000000	36	59	0	109	0	0	1	0	0	109	5
RP1L1	94137	broad.mit.edu	37	8	10470756	10470756	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:10470756C>T	ENST00000382483.3	-	4	1075	c.852G>A	c.(850-852)ccG>ccA	p.P284P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	7	71	0	155	284					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAGGGCCCACCGGGGGGTTGC	0.662000													1	1	1	1	0	1	0.982212	7	74	0	165	0	0	0	0	0	165	4
VPS13B	157680	broad.mit.edu	37	8	100865978	100865978	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:100865978T>G	ENST00000358544.2	+	56	10547	c.10436T>G	c.(10435-10437)aTt>aGt	p.I3479S	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.I3454S	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	241	33	0	96	3479					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCAGAACCCATTCAGTGTTCC	0.418000													1	1	1	1	1	1	1.000000	269	35	0	104	1	1	32	3	0	104	5
RIMS2	9699	broad.mit.edu	37	8	104955062	104955062	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:104955062C>T	ENST00000507740.1	+	11	2221	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	RIMS2_ENST00000436393.2_Missense_Mutation_p.T648M|RIMS2_ENST00000406091.3_Missense_Mutation_p.T870M|RIMS2_ENST00000262231.10_Missense_Mutation_p.T709M	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	15	77	0	34	932					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAACTTCAGACGCATGATGTC	0.418000										HNSCC(12;0.0054)			1	1	1	1	1	1	0.999980	17	84	0	38	0	6.324188e-01	1	11	0	38	5
EFR3A	23167	broad.mit.edu	37	8	132980594	132980594	+	Missense_Mutation	SNP	G	G	A	rs148528328		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr8:132980594G>A	ENST00000254624.5	+	9	1133	c.908G>A	c.(907-909)cGt>cAt	p.R303H	EFR3A_ENST00000334503.4_Missense_Mutation_p.R303H|EFR3A_ENST00000519656.1_Missense_Mutation_p.R267H	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	18	66	0	41	303						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	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)			CTTGATGCTCGTAAAAAAGAT	0.428000													1	1	1	1	1	1	0.999992	18	71	0	44	1	9.999978e-01	17	83	0	44	5
PTEN	5728	broad.mit.edu	37	10	89624296	89624296	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:89624296G>C	ENST00000371953.3	+	1	1427	c.70G>C	c.(70-72)Gac>Cac	p.D24H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	30	47	0	94	24	Phosphatase 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.0?(37)|p.?(13)|p.D24Y(4)|p.D24N(2)|p.D24fs*20(2)|p.D24_L25del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		ATTCGACTTAGACTTGACCTG	0.463000		31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	1	1	1	1	1	1.000000	32	49	0	99	1	9.999819e-01	22	11	0	99	5
TDRD1	56165	broad.mit.edu	37	10	115981160	115981160	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:115981160G>T	ENST00000251864.2	+	20	2968	c.2815G>T	c.(2815-2817)Gat>Tat	p.D939Y	TDRD1_ENST00000369280.1_Missense_Mutation_p.D939Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D543Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D939Y|TDRD1_ENST00000369281.2_Missense_Mutation_p.D825Y	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	23	24	0	65	939					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			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ATTGCCAGTGGATAAAACTAT	0.363000													1	0	1	1	1	1	1.000000	23	26	0	69	0	0	0	0	0	69	4
MMP21	118856	broad.mit.edu	37	10	127464289	127464289	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr10:127464289C>T	ENST00000368808.3	-	1	101	c.102G>A	c.(100-102)tcG>tcA	p.S34S		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	19	46	0	83	34					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCTCCAGGTCCGAGCGGTCCC	0.677000													1	1	1	1	1	1	0.999999	20	47	0	93	0	0	0	0	0	93	5
PHOX2A	401	broad.mit.edu	37	11	71954958	71954958	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:71954958C>T	ENST00000298231.5	-	1	262	c.91G>A	c.(91-93)Ggc>Agc	p.G31S	PHOX2A_ENST00000544057.1_Intron	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	4	11	0	20	31					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			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						TGGAAGCCGCCGGGCTGGCTG	0.716000													1	0	1	1	0	1	0.899434	4	12	0	24	0	0	0	0	0	24	3
CASP4	837	broad.mit.edu	37	11	104822679	104822679	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:104822679G>A	ENST00000444739.2	-	3	1226	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F	CASP4_ENST00000531333.1_Intron|CASP4_ENST00000393150.3_Missense_Mutation_p.L50F	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	18	35	0	67	106					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		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)		CAAAGCTTGAGGGCATCTGTA	0.413000													1	1	1	1	1	1	1.000000	21	42	0	77	1	9.999992e-01	27	32	0	77	5
JAM3	83700	broad.mit.edu	37	11	134009765	134009765	+	Silent	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr11:134009765A>G	ENST00000299106.4	+	2	255	c.96A>G	c.(94-96)gtA>gtG	p.V32V	JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Silent_p.V32V|JAM3_ENST00000529443.2_Silent_p.V77V			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	44	31	0	70	32					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	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)		TAGGGGCTGTAAATCTCAAAT	0.438000											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	51	34	0	81	0	9.050814e-01	1	4	0	81	5
SCNN1A	0	broad.mit.edu	37	12	6472683	6472683	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr12:6472683G>C	ENST00000358945.3	-	2	1050	c.610C>G	c.(610-612)Cgt>Ggt	p.R204G	SCNN1A_ENST00000396966.2_Missense_Mutation_p.R204G|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R263G|SCNN1A_ENST00000228916.2_Missense_Mutation_p.R204G|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R227G			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	18	10	0	36	204					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GCCACGCTACGGGCTCGACGG	0.741000													1	1	1	1	0	1	1.000000	27	10	0	43	1	1	39	17	0	43	4
LRP1	4035	broad.mit.edu	37	12	57572304	57572304	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr12:57572304C>T	ENST00000243077.3	+	27	4990	c.4524C>T	c.(4522-4524)acC>acT	p.T1508T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	30	137	0	167	1508					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			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACAAGTGGACCGGCCACAATG	0.617000													1	0	1	1	1	1	1.000000	32	150	0	185	1	8.668925e-01	3	16	0	185	4
NOS1	4842	broad.mit.edu	37	12	117723945	117723945	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr12:117723945C>T	ENST00000317775.6	-	6	1939	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	NOS1_ENST00000338101.4_Silent_p.S418S|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	31	55	0	113	418					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			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCACACAGCGCGAGGCATTCC	0.562000													1	1	1	1	1	1	1.000000	39	59	0	130	0	0	0	0	0	130	5
DGKH	160851	broad.mit.edu	37	13	42763366	42763366	+	Silent	SNP	C	C	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:42763366C>G	ENST00000379274.2	+	15	1854	c.1425C>G	c.(1423-1425)gcC>gcG	p.A475A	DGKH_ENST00000261491.4_Silent_p.A611A|DGKH_ENST00000540693.1_Silent_p.A611A|DGKH_ENST00000538674.1_Silent_p.A366A|DGKH_ENST00000536612.1_Silent_p.A475A|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Silent_p.A611A			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	22	59	0	93	611					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			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		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)		CCCAGAAAGCCGTCAAACCAA	0.458000													1	1	1	1	1	1	1.000000	23	62	0	99	0	0	1	0	0	99	5
PCDH8	5100	broad.mit.edu	37	13	53422054	53422054	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:53422054C>T	ENST00000377942.3	-	1	721	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PCDH8_ENST00000338862.4_Missense_Mutation_p.R173H	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	6	11	0	22	173	Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		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)		CTCGGCCAGGCGCACGGTCTG	0.716000													0	0	1	0	0	1	0.974550	6	12	0	22	1	1.333333e-01	2	0	0	22	1
TBC1D4	9882	broad.mit.edu	37	13	75884163	75884163	+	Silent	SNP	T	T	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:75884163T>C	ENST00000377636.3	-	14	2854	c.2508A>G	c.(2506-2508)tcA>tcG	p.S836S	TBC1D4_ENST00000431480.2_Silent_p.S828S|TBC1D4_ENST00000425511.1_Silent_p.S53S|TBC1D4_ENST00000377625.2_Silent_p.S773S	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	23	25	0	32	836						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCAGTTCTTTTGATTTCTTTC	0.433000													1	1	1	1	1	1	1.000000	25	28	0	34	1	9.999299e-01	13	11	0	34	5
RBM26	64062	broad.mit.edu	37	13	79911276	79911276	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr13:79911276A>C	ENST00000438737.2	-	19	3134	c.2694T>G	c.(2692-2694)ttT>ttG	p.F898L	RBM26_ENST00000267229.7_Missense_Mutation_p.F871L|RBM26_ENST00000438724.1_Missense_Mutation_p.F874L			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	14	35	0	47	898	RRM 2.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CGCTCTCCGTAAATGCAGAAA	0.507000													1	1	1	1	1	1	0.999953	15	35	0	50	1	9.999821e-01	19	37	0	50	5
MAP1A	4130	broad.mit.edu	37	15	43820144	43820144	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr15:43820144G>A	ENST00000382031.1	+	5	7218	c.7187G>A	c.(7186-7188)cGa>cAa	p.R2396Q	MAP1A_ENST00000300231.5_Missense_Mutation_p.R2158Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.R2158Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	89	87	0	213	2158						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		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)	GGGCCTGCCCGACCCAGTCTG	0.617000													1	1	1	1	1	1	1.000000	95	96	0	224	1	9.999209e-01	15	4	0	224	5
ADAMTS7	11173	broad.mit.edu	37	15	79066537	79066537	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr15:79066537C>T	ENST00000388820.4	-	13	2192	c.1982G>A	c.(1981-1983)cGg>cAg	p.R661Q	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	6	17	0	19	661	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCAGAGGTCCCGGCTGGCTCG	0.662000													0	0	0	1	1	1	0.971721	6	19	0	19	1	9.676846e-01	3	21	0	19	2
SRRM2	23524	broad.mit.edu	37	16	2816009	2816009	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr16:2816009G>A	ENST00000301740.8	+	11	6029	c.5480G>A	c.(5479-5481)cGg>cAg	p.R1827Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	10	45	0	81	1827	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCACCTGCCCGGCAGGAAAGT	0.652000													1	1	1	1	1	1	0.997722	10	49	0	87	1	9.999999e-01	79	175	0	87	5
SBK1	388228	broad.mit.edu	37	16	28331566	28331566	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr16:28331566G>A	ENST00000341901.4	+	4	1388	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	17	14	0	27	200	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						ATGACGCGCCGCGTGGGCTGC	0.726000													1	1	1	1	0	1	0.999997	17	15	0	27	1	9.384615e-01	2	5	0	27	4
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	45	8	0	87	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	50	9	0	96	1	1	165	10	0	96	5
NF1	4763	broad.mit.edu	37	17	29701048	29701048	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:29701048G>A	ENST00000358273.4	+	58	8778	c.8395G>A	c.(8395-8397)Gtt>Att	p.V2799I	NF1_ENST00000444181.2_Missense_Mutation_p.V592I|NF1_ENST00000356175.3_Missense_Mutation_p.V2778I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	6	62	0	57	2799					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?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		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)		CAAGGAGAACGTTGAACTCTC	0.493000			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)			1	0	1	1	1	1	0.982377	7	67	0	62	1	9.201845e-01	7	39	0	62	4
CD300C	10871	broad.mit.edu	37	17	72541016	72541016	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:72541016G>A	ENST00000330793.1	-	2	492	c.132C>T	c.(130-132)cgC>cgT	p.R44R		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	29	34	0	81	44	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CCTTCTCATAGCGACACTGCA	0.532000													1	1	1	1	1	1	1.000000	29	35	0	82	0	6.121103e-01	0	4	0	82	5
ENPP7	339221	broad.mit.edu	37	17	77709178	77709178	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:77709178G>A	ENST00000328313.5	+	3	957	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	7	94	0	122	246					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CATCACATCCGACCACGGCAT	0.612000													1	1	1	1	0	1	0.981763	7	102	0	140	0	0	0	0	0	140	4
ASPSCR1	79058	broad.mit.edu	37	17	79974988	79974988	+	Splice_Site	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr17:79974988G>A	ENST00000306729.7	+	16	2026	c.1930_splice	c.e16+1	p.P643_splice	ASPSCR1_ENST00000580534.1_Splice_Site_p.P497_splice|ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Splice_Site_p.P549_splice	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	11	20	0	31	549							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	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)			TGAAGCTGCCGGGTACTGCGG	0.721000			T	TFE3	alveolar soft part sarcoma								1	1	1	1	0	1	0.999250	11	22	0	33	1	9.999832e-01	10	47	0	33	4
EPG5	57724	broad.mit.edu	37	18	43526694	43526694	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr18:43526694G>A	ENST00000282041.5	-	7	1646	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	16	41	0	91	538					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GATGGCTTCCGCTCGCTGGGC	0.478000													1	1	1	1	1	1	0.999994	18	48	0	104	0	8.098892e-02	0	2	0	104	5
OCEL1	79629	broad.mit.edu	37	19	17337954	17337954	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:17337954G>C	ENST00000215061.4	+	3	442	c.398G>C	c.(397-399)gGa>gCa	p.G133A	OCEL1_ENST00000601529.1_Missense_Mutation_p.G133A|OCEL1_ENST00000597836.1_Missense_Mutation_p.G77A|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	12	142	0	179	133										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						AAGCCTATTGGAGCCATCCCT	0.592000													1	1	1	1	0	1	0.999228	12	155	0	195	1	9.975446e-01	9	128	0	195	4
ZNF571	51276	broad.mit.edu	37	19	38056900	38056900	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:38056900A>G	ENST00000328550.2	-	4	529	c.430T>C	c.(430-432)Tgc>Cgc	p.C144R	ZNF571_ENST00000593133.1_Missense_Mutation_p.C144R|ZNF571_ENST00000451802.2_Missense_Mutation_p.C144R|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.C144R|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	6	54	0	67	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTGTCTGCATTCCTTACAT	0.353000													1	0	1	1	0	1	0.967542	6	56	0	70	0	6.690586e-02	1	3	0	70	3
ZNF470	388566	broad.mit.edu	37	19	57089191	57089191	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:57089191G>A	ENST00000330619.8	+	6	2080	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.R465H	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	34	63	0	131	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TTCAGCCATCGTGGGTCTCTT	0.443000													1	1	1	1	1	1	1.000000	37	72	0	137	1	6.604049e-01	2	4	0	137	5
C21orf2	755	broad.mit.edu	37	21	45753071	45753071	+	Missense_Mutation	SNP	C	C	T	rs140451304		TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr21:45753071C>T	ENST00000339818.4	-	4	425	c.218G>A	c.(217-219)cGc>cAc	p.R73H	AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000325223.7_Missense_Mutation_p.R73H|C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000397956.3_Missense_Mutation_p.R73H	NM_004928.2	NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	10	19	0	46	73										endometrium(2)	2				Colorectal(79;0.0806)		GCTGGGGATGCGGTTCCTCCG	0.677000													1	1	1	1	1	1	0.999849	13	22	0	55	1	9.999979e-01	27	32	0	55	5
CHEK2	11200	broad.mit.edu	37	22	29092971	29092971	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr22:29092971A>C	ENST00000544772.1	-	11	1786	c.350T>G	c.(349-351)cTt>cGt	p.L117R	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.L338R|CHEK2_ENST00000382578.1_Missense_Mutation_p.L247R|CHEK2_ENST00000402731.1_Intron|CHEK2_ENST00000348295.3_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.L247R|CHEK2_ENST00000382580.2_Missense_Mutation_p.L381R|CHEK2_ENST00000404276.1_Missense_Mutation_p.L338R|CHEK2_ENST00000405598.1_Missense_Mutation_p.L338R|CHEK2_ENST00000464581.1_5'UTR	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	6	12	0	30	338	FHA.		R -> G (in dbSNP:rs28909982).		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)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTTTTCATGAAGGTACTACAC	0.398000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					1	0	1	1	1	1	0.973531	6	14	0	30	1	9.994875e-01	26	24	0	30	4
MAGEB2	4113	broad.mit.edu	37	X	30236752	30236752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:30236752C>T	ENST00000378988.4	+	2	156	c.55C>T	c.(55-57)Cga>Tga	p.R19*		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	18	26	0	26	19							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CCGCAAGGCCCGAGATGAGAC	0.547000													1	1	1	1	1	1	0.999999	20	33	0	27	0	0	0	0	0	27	5
DMD	1756	broad.mit.edu	37	X	31525450	31525450	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:31525450C>G	ENST00000357033.4	-	56	8544	c.8338G>C	c.(8338-8340)Gat>Cat	p.D2780H	DMD_ENST00000378677.2_Missense_Mutation_p.D2776H|DMD_ENST00000343523.2_Missense_Mutation_p.D320H|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000474231.1_Missense_Mutation_p.D320H|DMD_ENST00000359836.1_Missense_Mutation_p.D320H|DMD_ENST00000378707.3_Missense_Mutation_p.D320H|DMD_ENST00000541735.1_Missense_Mutation_p.D320H	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	20	27	0	50	2780					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			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		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)				TTCATGTTATCCAAACGTCTT	0.413000													1	1	1	1	1	1	1.000000	24	33	0	57	1	3.883023e-01	3	0	0	57	5
AKAP4	8852	broad.mit.edu	37	X	49958838	49958838	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:49958838G>A	ENST00000376056.2	-	5	649	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C	AKAP4_ENST00000376058.2_Missense_Mutation_p.R167C|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.R176C|AKAP4_ENST00000376064.3_Missense_Mutation_p.R167C			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	49	90	0	124	176					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATTTCTAGACGTAGGTTTTGA	0.448000													1	1	1	1	1	1	1.000000	51	95	0	130	0	0	0	0	0	130	5
MED12	9968	broad.mit.edu	37	X	70338671	70338671	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:70338671G>T	ENST00000333646.6	+	1	266	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	MED12_ENST00000374080.3_Missense_Mutation_p.D23Y|MED12_ENST00000374102.1_Missense_Mutation_p.D23Y	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	16	24	0	41	23					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	p.D23Y(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGGCCTCCCGATGTTTACCC	0.677000			M, S		uterine leiomyoma		Opitz-Kaveggia Syndrome						1	1	1	1	0	1	0.999997	18	28	0	46	1	9.343167e-01	9	1	0	46	4
NAP1L2	4674	broad.mit.edu	37	X	72433770	72433770	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:72433770C>T	ENST00000373517.3	-	1	914	c.559G>A	c.(559-561)Ggt>Agt	p.G187S	NAP1L2_ENST00000536638.1_Missense_Mutation_p.G45S	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	9	81	0	65	187	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex		p.G187S(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCCTCATTACCATACATCTCT	0.408000													1	1	1	1	1	1	0.997397	10	85	0	66	0	0	0	0	0	66	5
P2RY10	0	broad.mit.edu	37	X	78216443	78216443	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:78216443A>T	ENST00000171757.2	+	4	706	c.426A>T	c.(424-426)agA>agT	p.R142S	P2RY10_ENST00000544091.1_Missense_Mutation_p.R142S|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	9	98	0	80	142						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TCAGGGCCAGAGACTGGAAGC	0.498000													1	1	1	1	0	1	0.997313	10	102	0	88	0	0	0	1	0	88	4
ESX1	80712	broad.mit.edu	37	X	103497474	103497474	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:103497474T>A	ENST00000372588.4	-	3	625	c.542A>T	c.(541-543)gAc>gTc	p.D181V		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	64	136	0	209	181					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CTGCACTCTGTCTTCAGTCAA	0.393000													1	1	1	1	1	1	1.000000	73	156	0	240	0	0	0	0	0	240	5
ACSL4	2182	broad.mit.edu	37	X	108911498	108911498	+	Silent	SNP	G	G	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:108911498G>A	ENST00000340800.2	-	12	1774	c.1270C>T	c.(1270-1272)Ctg>Ttg	p.L424L	ACSL4_ENST00000348502.6_Silent_p.L383L|ACSL4_ENST00000469796.2_Silent_p.L424L	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	35	36	0	92	424					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TTTTTAAACAGTAACCTTAAT	0.438000													1	1	1	1	1	1	1.000000	36	36	0	95	1	9.999957e-01	24	3	0	95	5
MAGEA12	4111	broad.mit.edu	37	X	151899865	151899865	+	Silent	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:151899865C>T	ENST00000393900.3	-	3	1289	c.936G>A	c.(934-936)ggG>ggA	p.G312G	MAGEA12_ENST00000393869.3_Silent_p.G312G|MAGEA12_ENST00000357916.4_Silent_p.G312G|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	80	102	0	174	312										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTCACTCTTCCCCCTCTCTAA	0.547000													1	1	1	1	1	1	1.000000	88	107	0	190	0	0	0	0	0	190	5
TREX2	11219	broad.mit.edu	37	X	152713287	152713287	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:152713287C>T	ENST00000334497.2	-	10	1155	c.14G>A	c.(13-15)gGa>gAa	p.G5E	TREX2_ENST00000414588.1_5'UTR|HAUS7_ENST00000421080.2_3'UTR|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000402951.1_Missense_Mutation_p.G5E|HAUS7_ENST00000370211.4_3'UTR|TREX2_ENST00000370232.1_Missense_Mutation_p.G5E|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000393862.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370219.3_3'UTR			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	111	249	0	370	5					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGGGCTTCCTGCCCGCCC	0.537000								Editing and processing nucleases					1	1	1	1	1	1	1.000000	127	284	0	419	1	1	32	57	0	419	5
ARHGAP4	393	broad.mit.edu	37	X	153175625	153175625	+	Splice_Site	SNP	C	C	T			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chrX:153175625C>T	ENST00000370028.3	-	18	2333	c.2276_splice	c.e18+1	p.G759_splice	ARHGAP4_ENST00000350060.5_Splice_Site_p.G719_splice|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000393721.1_Splice_Site_p.G541_splice|ARHGAP4_ENST00000537206.1_Splice_Site_p.G696_splice|ARHGAP4_ENST00000370016.1_Splice_Site_p.G698_splice	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	26	26	0	49	719	SH3.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	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)					AAGGGTGTACCCCAGGCAGCT	0.677000													1	1	1	1	0	1	1.000000	28	27	0	53	1	1	15	44	0	53	4
ARID1A	8289	broad.mit.edu	37	1	27057848	27057848	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:27057848delC	ENST00000324856.7	+	3	1927	c.1556delC	c.(1555-1557)tcfs	p.S519fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S519fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S136fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	139	275	0	496	519					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		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		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)		CCTCCATACTCCCAGCAGCCA	0.632000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC								1	1	1	1	0	1	1.000000	139	425	0	506	1	9.891798e-01	3	21	0	506	4
ARID1A	8289	broad.mit.edu	37	1	27106527	27106528	+	Frame_Shift_Ins	INS	-	-	GAGT			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			-	GAGT	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr1:27106527_27106528insGAGT	ENST00000324856.7	+	20	6509_6510	c.6138_6139insGAGT	c.(6136-6141)gtagtgfs	p.V2047fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.V375fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.V1830fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.V1664fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	39	79	0	164	2047					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.E2047*(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		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)		GCAACAAAGTGGAGTGGTGGTG	0.550000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC								1	1	1	1	0	1	1.000000	39	124	0	167	0	9.999990e-01	0	74	0	167	4
DNAH11	8701	broad.mit.edu	37	7	21631140	21631141	+	Frame_Shift_Ins	INS	-	-	A			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr7:21631140_21631141insA	ENST00000328843.6	+	14	2643_2644	c.2612_2613insA	c.(2611-2613)aaafs	p.K871fs	DNAH11_ENST00000409508.3_Frame_Shift_Ins_p.K871fs			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	22	44	0	66	871	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GATTTGTTTACAAAAAAATACA	0.470000									Kartagener syndrome				1	1	0	1	0	1	1.000000	22	68	0	67							3
CHMP2A	27243	broad.mit.edu	37	19	59063715	59063716	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-NF-A5CP-01A-12D-A28R-08	TCGA-NF-A5CP-10A-01D-A28U-08			AC	-	AC	AC		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	5a5cd1b0-e7bd-4f5f-afb5-e9fc3be14d5d	9abdb8aa-e659-4785-9f8a-3664d9dcca2a	g.chr19:59063715_59063716delAC	ENST00000600118.1	-	2	683_684	c.258_259delGT	c.(256-261)gtccfs	p.VS86fs	CHMP2A_ENST00000601220.1_Frame_Shift_Del_p.VS86fs|CHMP2A_ENST00000312547.2_Frame_Shift_Del_p.VS86fs			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	52	124	0	194	86	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		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)		ATCTTGAGGGACACAGCCTGGA	0.545000													1	1	1	1	0	1	1.000000	53	177	0	196	1	1	3	291	0	196	4
COL11A1	1301	broad.mit.edu	37	1	103453188	103453188	+	Splice_Site	SNP	C	C	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:103453188C>A	ENST00000358392.2	-	30	2856		c.e30+1		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	8	26	0	77						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			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		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)		CATTTACCAACCTTTTCTCCT	0.438000													1	0	1	1	0	1	0.992313	8	27	0	84	0	4.433719e-01	0	6	0	84	3
ATP8B2	57198	broad.mit.edu	37	1	154315408	154315408	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:154315408A>G	ENST00000368489.3	+	15	1523	c.1523A>G	c.(1522-1524)cAt>cGt	p.H508R		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	46	56	0	73	494					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCCTGTGTCATACTGTCATG	0.572000													1	1	1	1	1	1	1.000000	49	59	0	78	1	9.999979e-01	19	12	0	78	5
PIGR	5284	broad.mit.edu	37	1	207110846	207110846	+	Silent	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:207110846G>A	ENST00000356495.4	-	4	822	c.639C>T	c.(637-639)agC>agT	p.S213S		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	23	68	0	79	213	Ig-like V-type 2.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCCAGCATCGCTGAGCCTGA	0.483000													1	1	1	1	1	1	1.000000	25	79	0	81	0	0	0	0	0	81	5
HEATR5B	54497	broad.mit.edu	37	2	37230808	37230808	+	Missense_Mutation	SNP	T	T	C			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr2:37230808T>C	ENST00000233099.5	-	31	5022	c.4927A>G	c.(4927-4929)Agt>Ggt	p.S1643G	HEATR5B_ENST00000354531.2_Missense_Mutation_p.S1643G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	14	29	0	29	1643							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGCAAAACACTCAGCAACTCA	0.343000													1	1	1	1	1	1	0.999908	14	31	0	34	1	9.895550e-01	6	15	0	34	5
TET3	200424	broad.mit.edu	37	2	74329129	74329129	+	Missense_Mutation	SNP	G	G	C			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr2:74329129G>C	ENST00000409262.3	+	9	4809	c.4809G>C	c.(4807-4809)aaG>aaC	p.K1603N		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	16	23	0	25	1603							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGAGGCCAAGCTCTACGGGA	0.687000													1	1	1	1	1	1	0.999993	17	26	0	26	1	9.832977e-01	6	8	0	26	5
THSD7B	80731	broad.mit.edu	37	2	137917826	137917826	+	Silent	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr2:137917826G>A	ENST00000409968.1	+	6	1591	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P	THSD7B_ENST00000413152.2_Silent_p.P440P|THSD7B_ENST00000272643.3_Silent_p.P471P|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR					thrombospondin, type I, domain containing 7B	39	48	0	84											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACCCGCCCCGTTGCCCTCTC	0.512000													1	1	1	1	1	1	1.000000	46	59	0	95	0	0	0	0	0	95	5
ITPR1	3708	broad.mit.edu	37	3	4716886	4716886	+	Silent	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr3:4716886G>A	ENST00000302640.8	+	22	3038	c.2688G>A	c.(2686-2688)gcG>gcA	p.A896A	ITPR1_ENST00000357086.4_Silent_p.A911A|ITPR1_ENST00000443694.2_Silent_p.A896A|ITPR1_ENST00000354582.6_Silent_p.A911A|ITPR1_ENST00000456211.2_Silent_p.A896A|ITPR1_ENST00000423119.2_Silent_p.A911A|ITPR1_ENST00000544951.1_Intron	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	25	38	0	55	911					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			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCAAGATGGCGAAAGGAGAAG	0.443000													1	1	1	1	1	1	1.000000	27	42	0	62	1	1.588419e-01	2	0	0	62	5
OXTR	5021	broad.mit.edu	37	3	8809318	8809318	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr3:8809318C>T	ENST00000316793.3	-	3	1180	c.556G>A	c.(556-558)Gac>Aac	p.D186N	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	32	31	0	96	186					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GCCCAGCAGTCGAAGACGCCG	0.662000													1	1	1	1	1	1	1.000000	34	32	0	106	0	0	0	0	0	106	5
FBXW7	0	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	36	44	0	139	505			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|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			Mis, N, D, F		colorectal, endometrial, T-ALL								1	1	1	1	1	1	1.000000	38	47	0	149	1	9.991148e-01	8	10	0	149	5
PALLD	23022	broad.mit.edu	37	4	169825035	169825035	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr4:169825035C>T	ENST00000335742.7	+	15	3432	c.2075C>T	c.(2074-2076)aCa>aTa	p.T692I	PALLD_ENST00000261509.6_Missense_Mutation_p.T850I|PALLD_ENST00000512127.1_Missense_Mutation_p.T468I|PALLD_ENST00000505667.1_Missense_Mutation_p.T867I|PALLD_ENST00000507735.1_Missense_Mutation_p.T363I|CBR4_ENST00000509108.1_Intron			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	14	20	0	84	1074	Interaction with ARGBP2, SPIN90 and SRC.|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GGGAATTATACAATTATGGCT	0.443000									Pancreatic Cancer, Familial Clustering of				1	1	1	1	1	1	0.999973	15	21	0	102	1	1	37	44	0	102	5
C5orf46	389336	broad.mit.edu	37	5	147281275	147281275	+	Silent	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr5:147281275G>A	ENST00000515291.1	-	2	168	c.132C>T	c.(130-132)gaC>gaT	p.D44D	C5orf46_ENST00000318315.4_Silent_p.D44D|C5orf46_ENST00000510432.1_5'UTR			Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	11	21	0	52	44						extracellular region				NS(1)|lung(1)|prostate(1)	3						ATTTGGGGAAGTCTGGCTTTG	0.502000													1	1	1	1	1	1	0.999648	12	23	0	60	0	0	0	0	0	60	5
ADAMTS2	9509	broad.mit.edu	37	5	178557078	178557078	+	Missense_Mutation	SNP	C	C	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr5:178557078C>A	ENST00000251582.7	-	16	2413	c.2312G>T	c.(2311-2313)gGc>gTc	p.G771V		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	33	2	0	47	771	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	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)		GATGAACTTGCCTGTCTCCAG	0.572000													1	1	1	1	1	1	1.000000	39	3	0	53	1	9.991497e-01	4	1	0	53	5
TBC1D9B	23061	broad.mit.edu	37	5	179301924	179301924	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr5:179301924C>T	ENST00000356834.3	-	12	2201	c.2164G>A	c.(2164-2166)Gag>Aag	p.E722K	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E722K	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	48	4	0	71	722						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	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)			GTCATGGCCTCGCCCTCGTCG	0.647000													1	1	1	1	1	1	1.000000	52	4	0	82	1	1	51	12	0	82	5
PPP1R18	170954	broad.mit.edu	37	6	30647013	30647013	+	Silent	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr6:30647013G>A	ENST00000274853.3	-	2	3641	c.1765C>T	c.(1765-1767)Ctg>Ttg	p.L589L	PPP1R18_ENST00000399199.3_Silent_p.L589L|PPP1R18_ENST00000488324.1_5'UTR	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	24	51	0	68	589						cytoplasm|cytoskeleton	actin binding										AGCAGCAGCAGCTCTTCCTCA	0.692000													1	1	1	1	1	1	1.000000	29	55	0	69	1	1	25	75	0	69	5
BAI3	577	broad.mit.edu	37	6	70070975	70070975	+	Missense_Mutation	SNP	G	G	C			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr6:70070975G>C	ENST00000370598.1	+	29	4631	c.3810G>C	c.(3808-3810)ttG>ttC	p.L1270F	BAI3_ENST00000238918.8_Missense_Mutation_p.L476F|BAI3_ENST00000546190.1_Missense_Mutation_p.L234F	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	11	17	0	57	1270					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCCATGTTTGAAAAAAGAAA	0.403000													1	1	1	1	1	1	0.999713	12	18	0	64	0	0	0	0	0	64	5
ATP6V0A4	50617	broad.mit.edu	37	7	138394427	138394427	+	Missense_Mutation	SNP	C	C	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr7:138394427C>G	ENST00000310018.2	-	21	2653	c.2371G>C	c.(2371-2373)Gcc>Ccc	p.A791P	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.A791P|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.A791P	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	97	115	0	325	791					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			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGAAGGATGGCTACTGTCAGG	0.542000													1	1	1	1	1	1	1.000000	101	119	0	340	0	4.395917e-01	0	3	0	340	5
WRN	7486	broad.mit.edu	37	8	30924601	30924601	+	Missense_Mutation	SNP	G	G	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr8:30924601G>T	ENST00000298139.5	+	6	806	c.557G>T	c.(556-558)gGt>gTt	p.G186V		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	24	0	0	41	186	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				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			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CACCTCTTAGGTAAACAGCTC	0.418000			Mis, N, F, S			osteosarcoma, meningioma, others		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				1	1	1	1	1	1	1.000000	24	0	0	41	1	9.989053e-01	4	0	0	41	5
PLAA	9373	broad.mit.edu	37	9	26919455	26919455	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:26919455C>T	ENST00000397292.3	-	9	1687	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	PLAA_ENST00000520884.1_Missense_Mutation_p.D424N|PLAA_ENST00000520641.1_5'UTR	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	34	69	0	124	424	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CAAGGGTCATCACTGGTATTA	0.313000													1	1	1	1	1	1	1.000000	38	73	0	139	1	1	18	68	0	139	5
TOPORS	10210	broad.mit.edu	37	9	32550878	32550878	+	Missense_Mutation	SNP	C	C	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:32550878C>A	ENST00000360538.2	-	2	208	c.92G>T	c.(91-93)aGt>aTt	p.S31I	TOPORS_ENST00000379858.1_Intron	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	9	13	0	62	31	E3 ubiquitin-protein ligase activity.				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			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TACCCGGCGACTTCTCCGCCT	0.726000													1	1	1	1	0	1	0.999471	11	14	0	72	1	7.154510e-01	2	3	0	72	4
NAA35	60560	broad.mit.edu	37	9	88593281	88593281	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:88593281G>A	ENST00000361671.5	+	11	995	c.862G>A	c.(862-864)Gat>Aat	p.D288N	NAA35_ENST00000376040.1_Missense_Mutation_p.D288N	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	15	22	0	74	288					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GGCCCAGAATGATACTACAAA	0.373000													1	1	1	1	1	1	0.999986	16	25	0	78	1	9.960432e-01	9	10	0	78	5
DDX31	64794	broad.mit.edu	37	9	135487643	135487643	+	Splice_Site	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:135487643C>T	ENST00000372159.3	-	19	2292		c.e19-1		DDX31_ENST00000372153.1_Splice_Site|DDX31_ENST00000438527.3_Splice_Site	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	18	16	0	42							nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GACTGCAGAGCTGAAAGAAAA	0.562000													1	1	1	1	1	1	1.000000	20	17	0	44	0	9.990185e-01	0	15	0	44	5
TUBAL3	79861	broad.mit.edu	37	10	5436259	5436259	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr10:5436259C>T	ENST00000380419.3	-	4	599	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	TUBAL3_ENST00000479328.1_Missense_Mutation_p.V148M	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	51	33	0	93	188					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GGCTCTACCACAGCAGTGGAG	0.517000													1	1	1	1	1	1	1.000000	59	36	0	97	0	0	0	0	0	97	5
OR51A4	401666	broad.mit.edu	37	11	4967462	4967462	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr11:4967462G>A	ENST00000380373.2	-	1	894	c.869C>T	c.(868-870)cCa>cTa	p.P290L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	10	74	0	113	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		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)		ATAAACAATTGGGTTCGTCAG	0.423000													1	1	1	1	0	1	0.997415	10	82	0	122	0	0	0	0	0	122	4
DHH	50846	broad.mit.edu	37	12	49488228	49488228	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr12:49488228C>T	ENST00000266991.2	-	1	374	c.68G>A	c.(67-69)tGc>tAc	p.C23Y		NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	10	11	0	34	23					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						gcccggcccgcAGCTCTGGGC	0.672000													0	0	1	1	0	1	0.998992	10	11	0	34	0	0	0	0	0	34	2
RNASE2	6036	broad.mit.edu	37	14	21423973	21423973	+	Silent	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr14:21423973C>T	ENST00000304625.2	+	2	133	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	31	111	0	150	15					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		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)		TCTGCTTCTTCTGTTGGGGCT	0.463000													1	1	1	1	1	1	1.000000	33	118	0	143	0	0	0	0	0	143	5
DVL2	1856	broad.mit.edu	37	17	7129436	7129436	+	Silent	SNP	C	C	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr17:7129436C>G	ENST00000005340.5	-	15	2241	c.1959G>C	c.(1957-1959)ggG>ggC	p.G653G	DVL2_ENST00000575458.1_Silent_p.G647G	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	38	5	0	69	653					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			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TAGGGGCACCCCCAGTTGAGC	0.672000													1	1	1	1	1	1	1.000000	40	5	0	75	1	1	53	2	0	75	5
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	45	1	0	91	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(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*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	47	1	0	105	1	1	74	7	0	105	5
PTRF	284119	broad.mit.edu	37	17	40557062	40557062	+	Silent	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr17:40557062C>T	ENST00000357037.5	-	2	1235	c.816G>A	c.(814-816)aaG>aaA	p.K272K		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	27	31	0	68	272					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(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TGTTCATGCGCTTCTCCAGGG	0.617000													1	1	1	1	1	1	1.000000	30	33	0	73	1	1	69	84	0	73	5
ZNF69	7620	broad.mit.edu	37	19	12016880	12016880	+	Silent	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:12016880C>T	ENST00000429654.2	+	4	1808	c.1668C>T	c.(1666-1668)caC>caT	p.H556H	ZNF69_ENST00000340180.5_Intron			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	17	119	0	75	556						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		GTAGGACTCACCCTGAAGATA	0.463000													1	0	0	1	0	1	0.999976	17	125	0	86	0	0	0	1	0	86	2
RFX1	5989	broad.mit.edu	37	19	14090342	14090342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:14090342G>A	ENST00000254325.4	-	7	985	c.751C>T	c.(751-753)Cag>Tag	p.Q251*		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	97	74	0	106	251					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GGAGTGGCCTGGACCACAGAT	0.622000													1	1	1	1	1	1	1.000000	107	83	0	121	1	9.999949e-01	7	13	0	121	5
PEPD	5184	broad.mit.edu	37	19	34003603	34003603	+	Missense_Mutation	SNP	G	G	C	rs61734503		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:34003603G>C	ENST00000244137.6	-	2	130	c.97C>G	c.(97-99)Cgg>Ggg	p.R33G	PEPD_ENST00000436370.3_Missense_Mutation_p.R33G|PEPD_ENST00000397032.4_Missense_Mutation_p.R33G	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	12	48	0	56	33					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					TTCCGCAGCCGCTCACACAGG	0.647000													1	1	1	1	1	1	0.999430	12	52	0	59	1	9.975221e-01	19	31	0	59	5
ADCK4	79934	broad.mit.edu	37	19	41216006	41216006	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:41216006C>T	ENST00000324464.3	-	5	626	c.325G>A	c.(325-327)Gag>Aag	p.E109K	ADCK4_ENST00000450541.1_Missense_Mutation_p.E109K|ADCK4_ENST00000243583.6_Missense_Mutation_p.E109K	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	40	44	0	109	109						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TTAGCCATCTCGGCCAGTACT	0.597000													1	1	1	1	1	1	1.000000	44	49	0	128	1	9.999929e-01	13	14	0	128	5
CEACAM21	90273	broad.mit.edu	37	19	42091840	42091840	+	Missense_Mutation	SNP	C	C	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:42091840C>G	ENST00000407170.2	+	6	1271	c.458C>G	c.(457-459)tCc>tGc	p.S153C	CEACAM21_ENST00000401445.2_Missense_Mutation_p.S281C|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S280C			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	31	43	0	130	281	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCCCCAGCCTCCACCCCCGGT	0.572000													1	1	1	1	1	1	1.000000	31	46	0	142	0	3.609939e-01	0	3	0	142	5
ARHGAP35	2909	broad.mit.edu	37	19	47424519	47424519	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:47424519C>T	ENST00000404338.3	+	1	2587	c.2587C>T	c.(2587-2589)Cgt>Tgt	p.R863C		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	23	36	0	126	863					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										TTCAGCCAAACGTAAGGCCTC	0.438000													1	1	1	1	1	1	1.000000	24	37	0	136	1	9.999809e-01	25	10	0	136	5
PPP2R1A	5518	broad.mit.edu	37	19	52723052	52723052	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:52723052G>A	ENST00000322088.6	+	10	1295	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.E358K|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.E234K	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	20	33	0	79	413	PP2A subunit C 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			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GGAGCTGGCTGAGGACGCCAA	0.627000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	1.000000	25	39	0	85	1	1	355	427	0	85	5
AP1B1	162	broad.mit.edu	37	22	29754889	29754889	+	Silent	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr22:29754889C>T	ENST00000357586.2	-	5	537	c.351G>A	c.(349-351)aaG>aaA	p.K117K	AP1B1_ENST00000405198.1_Silent_p.K117K|AP1B1_ENST00000402502.1_Silent_p.K117K|AP1B1_ENST00000317368.7_Silent_p.K117K|AP1B1_ENST00000356015.2_Silent_p.K117K|AP1B1_ENST00000432560.2_Silent_p.K117K|AP1B1_ENST00000415447.1_Silent_p.K117K	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	8	13	0	30	117					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			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACTCTGTGATCTTGTCAACGC	0.627000													1	1	1	1	1	1	0.994006	8	14	0	30	1	9.996929e-01	14	25	0	30	5
EIF3D	8664	broad.mit.edu	37	22	36919950	36919950	+	Silent	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr22:36919950C>T	ENST00000216190.8	-	5	754	c.384G>A	c.(382-384)caG>caA	p.Q128Q	EIF3D_ENST00000541106.1_Silent_p.Q79Q|EIF3D_ENST00000405442.1_Silent_p.Q128Q	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	35	28	0	105	128						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						ACCTCTCTTTCTGTTTGGCAC	0.502000													1	1	1	1	1	1	1.000000	41	32	0	116	1	1	176	184	0	116	5
MAGEC2	51438	broad.mit.edu	37	X	141291113	141291113	+	Missense_Mutation	SNP	C	C	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chrX:141291113C>G	ENST00000247452.3	-	3	1008	c.661G>C	c.(661-663)Gat>Cat	p.D221H		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	51	8	0	207	221	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCCTCATCATCACTACCC	0.502000										HNSCC(46;0.14)			1	1	1	1	1	1	1.000000	52	9	0	212	0	0	0	0	0	212	5
MYOM3	127294	broad.mit.edu	37	1	24390563	24390563	+	Splice_Site	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:24390563G>A	ENST00000330966.7	-	30	3792	c.3631_splice	c.e30+1	p.D1210_splice	MYOM3_ENST00000338909.5_Splice_Site_p.D100_splice|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Splice_Site_p.D1207_splice			Q5VTT5	MYOM3_HUMAN	myomesin 3	12	68	0	88	1207										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		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)		AGCTCCTACCGTCACCCGTGA	0.522000													1	1	1	1	0	1	0.999672	13	76	0	99	0	0	0	0	0	99	4
ZBTB7B	51043	broad.mit.edu	37	1	154988215	154988215	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:154988215A>G	ENST00000368426.3	+	3	1216	c.1079A>G	c.(1078-1080)aAa>aGa	p.K360R	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.K360R|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.K394R|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.K360R	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	17	117	0	106	360					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	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)			GGGGCAGGCAAACTGCCTCGC	0.632000													1	1	1	1	1	1	0.999999	22	128	0	122	1	1	70	177	0	122	5
ZBTB7B	51043	broad.mit.edu	37	1	154988223	154988223	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:154988223C>T	ENST00000368426.3	+	3	1224	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R363C|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R397C|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R363C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	69	72	0	111	363					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	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)			CAAACTGCCTCGCCACATGAG	0.637000													1	1	1	1	1	1	1.000000	74	79	0	124	1	1	159	76	0	124	5
C1orf112	55732	broad.mit.edu	37	1	169821955	169821955	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:169821955G>A	ENST00000286031.6	+	24	3089	c.2389G>A	c.(2389-2391)Gag>Aag	p.E797K	C1orf112_ENST00000359326.4_Missense_Mutation_p.E797K|C1orf112_ENST00000498289.1_3'UTR|SCYL3_ENST00000367772.4_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	26	172	0	144	797										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCTCGTCAGGAGTTCCCCTG	0.443000													1	1	1	1	1	1	1.000000	27	187	0	153	1	9.750715e-01	6	38	0	153	5
GLRX2	51022	broad.mit.edu	37	1	193070293	193070293	+	Missense_Mutation	SNP	G	G	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:193070293G>T	ENST00000367440.3	-	2	639	c.164C>A	c.(163-165)aCg>aAg	p.T55K	GLRX2_ENST00000472197.1_5'UTR|GLRX2_ENST00000367439.3_Missense_Mutation_p.T54K	NM_001243399.1|NM_016066.4	NP_001230328.1|NP_057150.2	Q9NS18	GLRX2_HUMAN	glutaredoxin 2	6	50	0	45	54					apoptosis|cell differentiation|cell redox homeostasis|DNA protection|electron transport chain|glutathione metabolic process|protein thiol-disulfide exchange|regulation of signal transduction|regulation of transcription, DNA-dependent|response to hydrogen peroxide|response to organic substance|response to redox state|response to temperature stimulus|transport	mitochondrion|nucleus	2 iron, 2 sulfur cluster binding|arsenate reductase (glutaredoxin) activity|electron carrier activity|glutathione disulfide oxidoreductase activity|metal ion binding|protein disulfide oxidoreductase activity			breast(1)|large_intestine(1)|lung(3)	5					Glutathione(DB00143)	CACAGGCGCCGTCGCTAAATT	0.343000													1	0	1	1	1	1	0.967499	6	57	0	55	1	9.690957e-01	15	49	0	55	4
C1orf106	55765	broad.mit.edu	37	1	200880764	200880764	+	Missense_Mutation	SNP	C	C	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:200880764C>A	ENST00000367342.4	+	9	1598	c.1398C>A	c.(1396-1398)caC>caA	p.H466Q	C1orf106_ENST00000413687.2_Missense_Mutation_p.H381Q	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	30	263	0	267	466										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCATCTCCCACCCCACTTCGC	0.677000													1	1	1	1	1	1	1.000000	31	283	0	281	1	9.870611e-01	20	45	0	281	5
CR1	1378	broad.mit.edu	37	1	207790017	207790017	+	Silent	SNP	C	C	T	rs55775404		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr1:207790017C>T	ENST00000367049.4	+	41	6759	c.6759C>T	c.(6757-6759)tgC>tgT	p.C2253C	CR1_ENST00000367051.1_Silent_p.C1803C|CR1_ENST00000367053.1_Silent_p.C1803C|CR1_ENST00000400960.2_Silent_p.C1803C|CR1_ENST00000367052.1_Silent_p.C1803C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	82	139	0	158	1803					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTACGCATGCGACACCCACC	0.498000													1	1	1	1	1	1	1.000000	85	145	0	165	0	0	0	0	0	165	5
EML4	27436	broad.mit.edu	37	2	42522396	42522396	+	Missense_Mutation	SNP	T	T	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr2:42522396T>G	ENST00000318522.5	+	12	1612	c.1350T>G	c.(1348-1350)ttT>ttG	p.F450L	EML4_ENST00000402711.2_Missense_Mutation_p.F392L|EML4_ENST00000401738.3_Missense_Mutation_p.F461L	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	10	54	0	57	450					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGGGAATTTTTGGGGTAAGAA	0.328000			T	ALK	NSCLC								1	1	1	1	1	1	0.998799	11	58	0	64	1	8.587154e-01	11	10	0	64	5
CNGA3	1261	broad.mit.edu	37	2	98999903	98999903	+	Splice_Site	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr2:98999903G>A	ENST00000393504.1	+	5	865	c.449_splice	c.e5+1	p.E150_splice	CNGA3_ENST00000409937.1_Splice_Site_p.E154_splice|CNGA3_ENST00000272602.2_Splice_Site_p.E150_splice|CNGA3_ENST00000436404.2_Intron	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	19	75	0	93	150					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CACGGAGGAGGAGTAAGTACC	0.592000													1	1	1	1	1	1	0.999998	20	85	0	110	0	0	0	0	0	110	5
WNT10A	80326	broad.mit.edu	37	2	219747080	219747080	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr2:219747080G>A	ENST00000258411.3	+	2	944	c.311G>A	c.(310-312)cGc>cAc	p.R104H		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	16	112	0	111	104					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			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		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)		AGGGACCAGCGCTGGAACTGC	0.597000													1	1	1	1	1	1	0.999976	17	122	0	120	1	4.646567e-02	2	1	0	120	5
TMPRSS7	344805	broad.mit.edu	37	3	111797605	111797605	+	Silent	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr3:111797605C>T	ENST00000452346.2	+	17	2244	c.2241C>T	c.(2239-2241)ctC>ctT	p.L747L	TMPRSS7_ENST00000419127.1_Silent_p.L621L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	16	51	0	59	747	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGGCTCCCTCGTTCTGCAGC	0.443000													1	1	1	1	1	1	0.999993	18	55	0	68	0	0	0	0	0	68	5
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	7	28	0	46	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|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(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal, gastric, gliobastoma, breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			1	1	1	1	1	1	0.991879	8	33	0	52	1	8.897350e-01	9	10	0	52	5
C4orf40	401137	broad.mit.edu	37	4	71021774	71021774	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr4:71021774C>T	ENST00000344526.5	+	2	244	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	C4orf40_ENST00000502294.1_Missense_Mutation_p.R19W|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	6	27	0	16	19						extracellular region		p.R19W(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATTTTAGAGACGGTTCCCCTT	0.259000													1	0	1	1	1	1	0.984515	7	28	0	20	0	0	1	0	0	20	4
RXFP1	59350	broad.mit.edu	37	4	159573042	159573042	+	Missense_Mutation	SNP	A	A	C			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr4:159573042A>C	ENST00000307765.5	+	18	2360	c.2109A>C	c.(2107-2109)aaA>aaC	p.K703N	RXFP1_ENST00000460056.2_Missense_Mutation_p.K622N|RXFP1_ENST00000448688.2_Missense_Mutation_p.K598N|RXFP1_ENST00000343542.5_Missense_Mutation_p.K655N|RXFP1_ENST00000470033.1_Missense_Mutation_p.K670N	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	9	62	0	61	703						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GACAAAGAAAATCTATGGACA	0.423000													1	1	1	1	1	1	0.995198	9	65	0	68	0	0	0	1	0	68	5
TAF7	6879	broad.mit.edu	37	5	140699511	140699511	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr5:140699511G>A	ENST00000313368.5	-	1	819	c.101C>T	c.(100-102)tCt>tTt	p.S34F		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	17	85	0	87	34					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACATGACCAGACTGTACTGC	0.468000													1	1	1	1	1	1	0.999995	19	100	0	98	1	9.999992e-01	27	116	0	98	5
TNIP1	10318	broad.mit.edu	37	5	150436454	150436454	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr5:150436454G>A	ENST00000389378.2	-	6	1088	c.500C>T	c.(499-501)aCg>aTg	p.T167M	TNIP1_ENST00000520931.1_Missense_Mutation_p.T114M|TNIP1_ENST00000521591.1_Missense_Mutation_p.T167M|TNIP1_ENST00000522226.1_Missense_Mutation_p.T167M|TNIP1_ENST00000315050.7_Missense_Mutation_p.T167M|TNIP1_ENST00000518977.1_Missense_Mutation_p.T167M|TNIP1_ENST00000524280.1_Missense_Mutation_p.T167M|TNIP1_ENST00000523200.1_Missense_Mutation_p.T167M|TNIP1_ENST00000523338.1_Missense_Mutation_p.T167M	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	14	60	0	56	167	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACACTCAGCGTGGTCTCCAG	0.672000													1	1	1	1	1	1	0.999845	14	69	0	59	1	9.999932e-01	85	36	0	59	5
BCLAF1	9774	broad.mit.edu	37	6	136599647	136599647	+	Missense_Mutation	SNP	T	T	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr6:136599647T>G	ENST00000531224.1	-	4	624	c.372A>C	c.(370-372)agA>agC	p.R124S	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R122S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R124S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R122S|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R124S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R122S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	14	210	0	220	124					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGCTTCTGGATCTTTGAGAAG	0.448000													1	1	1	1	0	1	0.999942	16	226	0	238	0	9.457581e-01	0	72	0	238	4
HECW1	23072	broad.mit.edu	37	7	43477687	43477687	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:43477687G>A	ENST00000395891.1	+	9	1492	c.887G>A	c.(886-888)cGc>cAc	p.R296H	HECW1_ENST00000453890.1_Missense_Mutation_p.R296H|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	11	73	0	94	296	C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATCATCAAGCGCTTCTTGGGA	0.493000													1	1	1	1	1	1	0.998685	11	80	0	99	0	0	0	0	0	99	5
ABCB1	5243	broad.mit.edu	37	7	87148697	87148697	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:87148697G>A	ENST00000265724.3	-	24	3289	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Missense_Mutation_p.R894W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	14	49	0	56	958	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			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	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)	GCTCCAAACCGGAAACATCCA	0.378000													1	1	1	1	1	1	0.999935	15	54	0	62	1	3.166209e-01	3	2	0	62	5
GIGYF1	64599	broad.mit.edu	37	7	100281657	100281657	+	Silent	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:100281657C>T	ENST00000275732.5	-	15	3063	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	5	30	0	42	618										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGGGTTTGAGCGCCTGGAGCT	0.657000													0	0	1	0	0	1	0.942049	5	33	0	43	1	8.772672e-01	15	13	0	43	1
CUX1	1523	broad.mit.edu	37	7	101747648	101747648	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:101747648C>T	ENST00000360264.3	+	6	492	c.472C>T	c.(472-474)Cga>Tga	p.R158*	CUX1_ENST00000550008.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000547394.2_Nonsense_Mutation_p.R142*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.R147*|CUX1_ENST00000393824.3_Nonsense_Mutation_p.R121*|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Nonsense_Mutation_p.R158*|CUX1_ENST00000556210.1_Nonsense_Mutation_p.R147*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.R147*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.R158*|CUX1_ENST00000425244.2_Nonsense_Mutation_p.R112*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	33	130	0	139	147					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R147*(1)|p.R158*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGAGAAAATCCGAGAATATGA	0.388000													1	1	1	1	1	1	1.000000	34	136	0	145	0	9.992625e-01	1	47	0	145	5
NR6A1	2649	broad.mit.edu	37	9	127300415	127300415	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:127300415G>A	ENST00000487099.2	-	6	937	c.780C>T	c.(778-780)gcC>gcT	p.A260A	NR6A1_ENST00000416460.2_Silent_p.A255A|NR6A1_ENST00000373584.3_Silent_p.A256A|NR6A1_ENST00000344523.4_Silent_p.A259A	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	10	58	0	80	260					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			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CCAGGTCCTCGGCTGATAACA	0.557000													1	1	1	1	1	1	0.998756	11	65	0	84	0	2.531646e-02	1	1	0	84	5
COL5A1	1289	broad.mit.edu	37	9	137653812	137653812	+	Silent	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:137653812C>T	ENST00000371817.3	+	19	2391	c.1977C>T	c.(1975-1977)gaC>gaT	p.D659D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	15	62	0	93	659	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			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		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)		CTCCGGGAGACGATGGAGAAA	0.597000													1	1	1	1	1	1	0.999963	16	70	0	102	0	1.007150e-01	0	3	0	102	5
GRID1	2894	broad.mit.edu	37	10	87628820	87628820	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:87628820G>A	ENST00000327946.7	-	6	983	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	14	93	0	86	300						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GAGGAGATGCGGTGGTTGTTC	0.567000										Multiple Myeloma(13;0.14)			1	1	1	1	1	1	0.999910	15	101	0	89	0	0	0	0	0	89	5
PTEN	5728	broad.mit.edu	37	10	89653815	89653815	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:89653815C>T	ENST00000371953.3	+	2	1470	c.113C>T	c.(112-114)cCt>cTt	p.P38L		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	7	55	0	48	38	Phosphatase 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.0?(37)|p.?(8)|p.Y27fs*1(2)|p.P38R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		ATGGGATTTCCTGCAGAAAGA	0.289000		31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	1	1	1	1	1	0.990788	8	63	0	58	1	9.942035e-01	20	58	0	58	5
PTEN	5728	broad.mit.edu	37	10	89692792	89692792	+	Missense_Mutation	SNP	C	C	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:89692792C>A	ENST00000371953.3	+	5	1633	c.276C>A	c.(274-276)gaC>gaA	p.D92E		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	29	68	0	91	92	Phosphatase 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.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.D92E(2)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		CTTTTGAAGACCATAACCCAC	0.333000		31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	1	1	1	1	1	1.000000	29	74	0	94	1	1	72	29	0	94	5
COL17A1	1308	broad.mit.edu	37	10	105793951	105793951	+	Missense_Mutation	SNP	C	C	T	rs121912771		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr10:105793951C>T	ENST00000353479.5	-	52	4198	c.3908G>A	c.(3907-3909)cGg>cAg	p.R1303Q	COL17A1_ENST00000369733.3_Missense_Mutation_p.R1221Q	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	9	39	0	31	1303	Triple-helical region.		R -> Q (in GABEB).		cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		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)		GGAGCTGCCCCGCCTGACAGA	0.672000													1	1	1	1	1	1	0.997850	10	41	0	34	1	9.532923e-01	5	19	0	34	5
SSRP1	6749	broad.mit.edu	37	11	57099304	57099304	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr11:57099304G>A	ENST00000278412.2	-	9	1327	c.1061C>T	c.(1060-1062)cCg>cTg	p.P354L		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	7	38	0	38	354					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			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CCGCTCCAGCGGGTAGAGCAG	0.567000													1	0	1	1	1	1	0.983416	7	41	0	43	1	9.999997e-01	159	187	0	43	4
DHCR7	1717	broad.mit.edu	37	11	71155948	71155948	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr11:71155948G>A	ENST00000355527.3	-	3	327	c.51C>T	c.(49-51)ggC>ggT	p.G17G	DHCR7_ENST00000407721.2_Silent_p.G17G	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	23	126	0	168	17					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	p.G17G(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CATTGGTGACGCCATCTAGAC	0.502000									Smith-Lemli-Opitz syndrome				1	0	1	1	1	1	1.000000	26	143	0	193	1	9.974817e-01	26	29	0	193	4
SPCS2	9789	broad.mit.edu	37	11	74687936	74687936	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr11:74687936A>G	ENST00000263672.6	+	5	568	c.529A>G	c.(529-531)Atc>Gtc	p.I177V	SPCS2_ENST00000526361.1_Missense_Mutation_p.I38V|SPCS2_ENST00000530257.1_Missense_Mutation_p.I108V|SPCS2_ENST00000528265.1_Intron	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)	15	82	0	81	177					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			breast(1)	1						GCTGACCTTCATCAGTGGGAG	0.443000													1	1	1	1	0	1	0.999913	15	92	0	80	1	9.959555e-01	30	30	0	80	4
AQP5	362	broad.mit.edu	37	12	50358866	50358866	+	Missense_Mutation	SNP	G	G	A	rs148637740		TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:50358866G>A	ENST00000293599.6	+	4	852	c.704G>A	c.(703-705)cGt>cAt	p.R235H		NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	15	76	0	78	235					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						CTGAGTGAGCGTGTGGCCATC	0.607000													1	1	1	1	1	1	0.999980	17	87	0	85	1	9.999980e-01	74	58	0	85	5
KRT6A	3853	broad.mit.edu	37	12	52882314	52882314	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:52882314C>T	ENST00000330722.6	-	7	1290	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	13	89	0	115	408	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCAATGGCGGCCTGCAGG	0.552000													1	1	1	1	1	1	0.999820	14	99	0	129	1	5.103710e-01	7	6	0	129	5
NACA	4666	broad.mit.edu	37	12	57109734	57109734	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:57109734G>A	ENST00000454682.1	-	3	5861	c.5580C>T	c.(5578-5580)gtC>gtT	p.V1860V	NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Silent_p.V707V|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	16	124	0	138	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGCATGTTGACGAGGACCG	0.562000			T	BCL6	NHL								1	1	1	1	1	1	0.999975	17	132	0	150	1	1	3	1	0	150	5
LGR5	8549	broad.mit.edu	37	12	71918242	71918242	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:71918242A>G	ENST00000266674.5	+	3	652	c.341A>G	c.(340-342)tAc>tGc	p.Y114C	LGR5_ENST00000536515.1_Missense_Mutation_p.Y114C|LGR5_ENST00000540815.2_Missense_Mutation_p.Y114C			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	7	43	0	72	114						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ACTGGCCTTTACAGTCTTAAA	0.418000													1	1	1	1	1	1	0.991260	8	46	0	80	1	9.995452e-01	69	29	0	80	5
CLLU1OS	574016	broad.mit.edu	37	12	92821902	92821902	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr12:92821902G>A	ENST00000378487.2	-	1	22	c.21C>T	c.(19-21)aaC>aaT	p.N7N	CLLU1_ENST00000472839.2_Intron|CLLU1_ENST00000378485.1_Intron|CLLU1OS_ENST00000538965.1_Silent_p.N7N|RP11-693J15.4_ENST00000508671.1_RNA	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	6	36	0	30	7								p.N7K(1)		large_intestine(1)|lung(7)	8						ccttaagttcgttgtgcccca	0.423000													1	1	1	1	1	1	0.983416	7	41	0	33	0	0	0	0	0	33	5
RB1	5925	broad.mit.edu	37	13	48916759	48916759	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr13:48916759G>T	ENST00000267163.4	+	3	427	c.289G>T	c.(289-291)Gaa>Taa	p.E97*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	9	46	0	82	97					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?(15)|p.?(5)|p.E97fs*14(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		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)	AAAGAAAAAGGAACTGTGGGG	0.313000		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	1	1	1	0.995435	9	51	0	100	1	7.392473e-02	2	1	0	100	4
CCDC33	80125	broad.mit.edu	37	15	74623364	74623364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr15:74623364C>T	ENST00000321288.5	+	16	2197	c.2197C>T	c.(2197-2199)Cag>Tag	p.Q733*	CCDC33_ENST00000398814.3_Nonsense_Mutation_p.Q530*|CCDC33_ENST00000268082.4_Nonsense_Mutation_p.Q123*|CCDC33_ENST00000558821.1_Nonsense_Mutation_p.Q123*			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	7	26	0	28	733							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTATCAGGCCCAGCAGCCACA	0.597000													1	1	1	1	1	1	0.984515	7	28	0	29	0	1.273662e-01	0	3	0	29	5
SIN3A	25942	broad.mit.edu	37	15	75684736	75684736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr15:75684736G>A	ENST00000394947.3	-	15	3012	c.2698C>T	c.(2698-2700)Cag>Tag	p.Q900*	SIN3A_ENST00000360439.4_Nonsense_Mutation_p.Q900*|SIN3A_ENST00000394949.4_Nonsense_Mutation_p.Q900*	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	23	74	0	101	900					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CAGAGAATCTGGTGCAGTCGC	0.438000													1	1	1	1	1	1	1.000000	24	78	0	104	1	9.992325e-01	5	37	0	104	5
SOX8	30812	broad.mit.edu	37	16	1033825	1033825	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr16:1033825C>T	ENST00000293894.3	+	2	635	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	10	55	0	76	174					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)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GTACCAGCCACGGCGCAGGAA	0.677000													1	1	1	1	1	1	0.997579	10	61	0	85	0	0	0	0	0	85	5
WSCD1	23302	broad.mit.edu	37	17	6023654	6023654	+	Silent	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:6023654C>T	ENST00000574946.1	+	9	1791	c.1401C>T	c.(1399-1401)taC>taT	p.Y467Y	WSCD1_ENST00000574232.1_Silent_p.Y467Y|WSCD1_ENST00000573634.1_Silent_p.Y351Y|WSCD1_ENST00000317744.5_Silent_p.Y467Y|WSCD1_ENST00000539421.1_Silent_p.Y467Y			Q658N2	WSCD1_HUMAN	WSC domain containing 1	42	229	0	285	467						integral to membrane	sulfotransferase activity	p.Y467Y(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TCAACAGCTACGCCTCGTGGT	0.677000													1	1	1	1	1	1	1.000000	44	249	0	324	0	0	0	0	0	324	5
COPRS	55352	broad.mit.edu	37	17	30179976	30179976	+	Silent	SNP	A	A	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:30179976A>G	ENST00000378634.2	-	3	457	c.204T>C	c.(202-204)ttT>ttC	p.F68F	COPRS_ENST00000302362.6_Silent_p.F80F					coordinator of PRMT5, differentiation stimulator	49	269	2	356																		CATCCATGGCAAAGCCTTCCT	0.512000													1	0	0	1	1	1	1.000000	52	302	2	401	1	9.999993e-01	88	92	2	401	3
GAS2L2	246176	broad.mit.edu	37	17	34073283	34073283	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:34073283G>A	ENST00000254466.6	-	6	1260	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	GAS2L2_ENST00000587565.1_Silent_p.L395L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	30	156	0	211	411					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTCCCCTGGGGAGTTCAGGGG	0.597000													1	1	1	1	1	1	1.000000	31	167	0	220	1	1.245272e-01	3	1	0	220	5
ABCA8	10351	broad.mit.edu	37	17	66873704	66873704	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:66873704G>A	ENST00000269080.2	-	31	4172	c.4035C>T	c.(4033-4035)gcC>gcT	p.A1345A	ABCA8_ENST00000586539.1_Silent_p.A1385A|ABCA8_ENST00000430352.2_Silent_p.A1385A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	40	226	0	253	1345	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCCCTTTCACGGCGGCGTACA	0.617000													1	1	1	1	1	1	1.000000	46	253	0	278	0	0	0	0	0	278	5
PSMG2	56984	broad.mit.edu	37	18	12725487	12725487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr18:12725487G>A	ENST00000317615.6	+	7	1434	c.752G>A	c.(751-753)tGg>tAg	p.W251*	RP11-973H7.2_ENST00000585331.1_RNA	NM_020232.4|NM_147163.1	NP_064617.2|NP_671692.1	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly chaperone 2	18	84	0	77	251					proteasome assembly	nucleus	protein binding			lung(1)|prostate(2)|skin(1)	4						CCAAGTTCTTGGAGATTACTC	0.373000													1	1	1	1	0	1	1.000000	24	97	0	90	1	1	87	99	0	90	4
FUT1	2523	broad.mit.edu	37	19	49253880	49253880	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr19:49253880C>T	ENST00000310160.3	-	4	1633	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	32	171	0	231	220					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		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)		GTCCCCACGGCGCACGTGGAC	0.692000													1	1	1	1	1	1	1.000000	34	183	0	252	1	6.315024e-01	6	7	0	252	5
ZNF415	55786	broad.mit.edu	37	19	53612426	53612426	+	Missense_Mutation	SNP	C	C	T	rs138480197	byFrequency	TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr19:53612426C>T	ENST00000455735.2	-	7	1336	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	ZNF415_ENST00000243643.4_Missense_Mutation_p.R291Q|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.R278Q|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.R291Q|ZNF415_ENST00000448501.1_Missense_Mutation_p.R339Q|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.R303Q|ZNF415_ENST00000601493.1_Missense_Mutation_p.R61Q|ZNF415_ENST00000597503.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	7	40	0	64	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	p.R291L(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GTGAACTCTCCGATGTAGTGC	0.418000													1	0	1	1	1	1	0.991336	8	43	0	68	1	8.066068e-01	9	10	0	68	4
NDRG3	57446	broad.mit.edu	37	20	35317150	35317150	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr20:35317150A>G	ENST00000373803.2	-	4	187	c.131T>C	c.(130-132)gTc>gCc	p.V44A	NDRG3_ENST00000359675.2_Missense_Mutation_p.V32A|NDRG3_ENST00000373773.3_Intron|NDRG3_ENST00000540765.1_Intron|NDRG3_ENST00000349004.1_Missense_Mutation_p.V44A			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	10	56	0	74	44					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TCTTATAGTGACGTGGACCAC	0.383000													1	0	1	1	1	1	0.998756	11	65	0	84	1	9.732851e-01	17	23	0	84	4
CSF2RA	0	broad.mit.edu	37	X	1414328	1414328	+	Missense_Mutation	SNP	G	G	C			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:1414328G>C	ENST00000381524.3	+	9	975	c.789G>C	c.(787-789)caG>caC	p.Q263H	CSF2RA_ENST00000381529.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000417535.2_Missense_Mutation_p.Q263H|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Q263H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Q263H|CSF2RA_ENST00000501036.2_Missense_Mutation_p.Q130H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Q263H|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	54	225	0	337	263						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)	AGAATACCCAGCCTGGCACGG	0.483000													1	1	1	1	1	1	1.000000	58	256	0	387	0	0	0	0	0	387	5
SOWAHD	347454	broad.mit.edu	37	X	118893526	118893526	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:118893526C>T	ENST00000343905.3	+	1	951	c.896C>T	c.(895-897)gCg>gTg	p.A299V		NM_001105576.2	NP_001099046.1	A6NJG2	ANR58_HUMAN	sosondowah ankyrin repeat domain family member D	7	25	0	44	299																	AGCCGGGTGGCGCAAATGCAT	0.647000													1	1	1	1	1	1	0.992400	8	26	0	48	0	0	0	1	0	48	5
FLNA	0	broad.mit.edu	37	X	153578523	153578523	+	Silent	SNP	G	G	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:153578523G>A	ENST00000422373.1	-	44	7433	c.7185C>T	c.(7183-7185)gaC>gaT	p.D2395D	FLNA_ENST00000369850.3_Silent_p.D2403D|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000360319.4_Silent_p.D2395D|FLNA_ENST00000344736.4_Silent_p.D2363D|FLNA_ENST00000369856.3_Silent_p.D536D	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	56	224	0	284	2403					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)					TGAACTTGACGTCAATCAGGT	0.592000											OREG0003592	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1	1	1	1	1	1	1.000000	57	244	0	312	1	1	4	757	0	312	5
FLNA	0	broad.mit.edu	37	X	153592412	153592412	+	Missense_Mutation	SNP	C	C	G			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			C	G	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chrX:153592412C>G	ENST00000422373.1	-	15	2506	c.2258G>C	c.(2257-2259)aGc>aCc	p.S753T	FLNA_ENST00000369850.3_Missense_Mutation_p.S753T|FLNA_ENST00000360319.4_Missense_Mutation_p.S753T|FLNA_ENST00000344736.4_Missense_Mutation_p.S753T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	40	147	0	209	753					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)					GTTGGGGATGCTGACGCCTCC	0.577000													1	1	1	1	1	1	1.000000	44	160	0	231	0	1	0	148	0	231	5
CLOCK	9575	broad.mit.edu	37	4	56336953	56336954	+	Frame_Shift_Ins	INS	-	-	A			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr4:56336953_56336954insA	ENST00000309964.4	-	7	618_619	c.368_369insT	c.(367-369)tgcfs	p.C123fs	CLOCK_ENST00000513440.1_Frame_Shift_Ins_p.C123fs|CLOCK_ENST00000381322.1_Frame_Shift_Ins_p.C123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	12	49	0	55	123	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	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	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)			TCATGATTGCTAAAAAAAAACC	0.287000													0	1	1	1	0	1	0.999359	12	68	0	56	0	1.742318e-01	1	4	0	56	3
F13A1	2162	broad.mit.edu	37	6	6266846	6266847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr6:6266846_6266847insC	ENST00000264870.3	-	4	780_781	c.515_516insG	c.(514-516)cacfs	p.H172fs		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	19	106	0	156	172					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R172Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCGACTGGTTCGAAGTACGCC	0.455000													1	1	1	1	0	1	0.999997	20	127	0	158	0	0	0	1	0	158	4
MAD1L1	8379	broad.mit.edu	37	7	2265126	2265126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr7:2265126delC	ENST00000406869.1	-	4	767	c.210delG	c.(208-210)gafs	p.E70fs	MAD1L1_ENST00000265854.7_Frame_Shift_Del_p.E70fs|MAD1L1_ENST00000399654.2_Frame_Shift_Del_p.E70fs|MAD1L1_ENST00000402746.1_Intron			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	13	67	0	99	70					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			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCTGCATTTTCTCCCGCTCCA	0.577000													1	1	1	1	0	1	0.999662	13	83	0	100	0	8.742369e-01	0	26	0	100	4
TLE1	7088	broad.mit.edu	37	9	84207940	84207943	+	Splice_Site	DEL	CAGA	CAGA	-			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			CAGA	-	CAGA	CAGA		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr9:84207940_84207943delCAGA	ENST00000376499.3	-	15	2642_2645	c.1581_splice	c.e15+1	p.CL526_splice		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	10	70	0	72	526					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GTTCACTCACCAGACAGTCGAGCT	0.534000													1	0	1	0	0	1	0.997403	10	84	0	75	0	9.986416e-01	0	106	0	75	2
PRPF8	10594	broad.mit.edu	37	17	1559836	1559837	+	In_Frame_Ins	INS	-	-	TTT			TCGA-NG-A4VW-01A-11D-A28R-08	TCGA-NG-A4VW-10A-01D-A28U-08			-	TTT	-	-		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	036c7c6a-32e0-4837-a8a6-4d230860dc1c	c3915350-561b-448e-af59-7d96f4e95b64	g.chr17:1559836_1559837insTTT	ENST00000572621.1	-	35	5907_5908	c.5642_5643insAAA	c.(5641-5643)aat>aAAAat	p.1880_1881insK	PRPF8_ENST00000304992.6_In_Frame_Ins_p.1880_1881insK			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	6	73	0	76	1880	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGATGACAATATTGGGGAAGTC	0.505000													0	0	1	0	0	1	0.966756	6	81	0	78	1	9.960942e-01	23	132	0	78	1
DHX9	1660	broad.mit.edu	37	1	182829308	182829308	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:182829308G>T	ENST00000367549.3	+	12	1431	c.1321G>T	c.(1321-1323)Gta>Tta	p.V441L		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	22	45	0	51	441	Helicase ATP-binding.				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			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTGTAACATCGTAGTAACTCA	0.378000													1	1	1	1	1	1	1.000000	23	48	0	55	0	0	0	1	0	55	5
PLEKHA6	22874	broad.mit.edu	37	1	204237436	204237436	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:204237436G>C	ENST00000272203.3	-	4	423	c.107C>G	c.(106-108)aCt>aGt	p.T36S	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.T36S	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	33	29	0	36	36										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	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)			GGCTGTGCGAGTTGCCTGGGG	0.597000													1	1	1	1	1	1	1.000000	34	31	0	39	0	0	0	0	0	39	5
CNTN2	6900	broad.mit.edu	37	1	205031674	205031674	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr1:205031674C>T	ENST00000331830.4	+	10	1501	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	42	39	0	50	406	Ig-like C2-type 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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	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)			ACCATCTACGCCAGCGCCGAG	0.582000													1	1	1	1	1	1	1.000000	43	41	0	56	0	0	0	0	0	56	5
MAP2	4133	broad.mit.edu	37	2	210559085	210559085	+	Missense_Mutation	SNP	A	A	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr2:210559085A>G	ENST00000360351.4	+	7	2697	c.2191A>G	c.(2191-2193)Att>Gtt	p.I731V	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I727V|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	36	143	0	173	731					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			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		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)	GGCTTCCGATATTCTAACCAA	0.468000													1	1	1	1	1	1	1.000000	37	150	0	186	0	0	0	0	0	186	5
IL5RA	0	broad.mit.edu	37	3	3143448	3143448	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr3:3143448G>A	ENST00000446632.2	-	5	869	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	IL5RA_ENST00000456302.1_Missense_Mutation_p.R99W|IL5RA_ENST00000256452.3_Missense_Mutation_p.R99W|IL5RA_ENST00000445864.2_Missense_Mutation_p.R99W|IL5RA_ENST00000383846.1_Missense_Mutation_p.R99W|IL5RA_ENST00000311981.8_Missense_Mutation_p.R99W|IL5RA_ENST00000418488.2_Missense_Mutation_p.R99W|IL5RA_ENST00000438560.1_Missense_Mutation_p.R99W|IL5RA_ENST00000430514.2_Missense_Mutation_p.R99W	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	17	21	0	67	99					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AGGATGGTCCGCACACTTGCT	0.463000													1	1	1	1	1	1	0.999998	18	21	0	72	0	0	0	0	0	72	5
CORIN	10699	broad.mit.edu	37	4	47682239	47682239	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr4:47682239C>T	ENST00000273857.4	-	8	1050	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	CORIN_ENST00000508498.1_Missense_Mutation_p.G212R|CORIN_ENST00000504584.1_Intron|CORIN_ENST00000502252.1_Missense_Mutation_p.G284R|CORIN_ENST00000505909.1_Intron	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	35	17	0	52	351	LDL-receptor class A 3.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CGCCCGTCCCCGCAGCGATGC	0.547000													1	1	1	1	1	1	1.000000	39	20	0	59	0	0	0	0	0	59	5
MAB21L2	10586	broad.mit.edu	37	4	151504556	151504556	+	Silent	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr4:151504556G>A	ENST00000317605.4	+	1	1480	c.375G>A	c.(373-375)gcG>gcA	p.A125A	LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	41	105	0	152	125					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ATCTCTCAGCGCGTAAGATCC	0.627000													1	0	1	1	1	1	1.000000	43	112	0	164	0	0	0	1	0	164	4
CEP72	55722	broad.mit.edu	37	5	639302	639302	+	Silent	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:639302C>T	ENST00000264935.5	+	8	1395	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	13	106	0	121	435					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GGAGCTGGGGCGGCTGCAGGT	0.672000													1	1	1	1	1	1	0.999812	14	114	0	134	1	1.409278e-02	2	0	0	134	5
SNCAIP	9627	broad.mit.edu	37	5	121759376	121759376	+	Missense_Mutation	SNP	A	A	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:121759376A>C	ENST00000261367.7	+	6	2513	c.1085A>C	c.(1084-1086)tAt>tCt	p.Y362S	SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.Y315S|SNCAIP_ENST00000379533.2_Missense_Mutation_p.Y362S|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.Y362S|SNCAIP_ENST00000261368.8_Missense_Mutation_p.Y315S			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	19	103	0	95	315					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			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		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)		AGGAGTGAGTATCTGAAAAAA	0.448000													1	1	1	1	1	1	0.999997	20	113	0	108	0	0	0	0	0	108	5
FAT2	2196	broad.mit.edu	37	5	150923476	150923476	+	Missense_Mutation	SNP	A	A	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:150923476A>C	ENST00000261800.5	-	9	7224	c.7212T>G	c.(7210-7212)atT>atG	p.I2404M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	8	42	0	53	2404	Cadherin 21.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTCAGGGTCAATAGCCTGGA	0.473000													1	1	1	1	1	1	0.991376	8	43	0	53	0	0	0	0	0	53	5
GABRA1	2554	broad.mit.edu	37	5	161277800	161277800	+	Splice_Site	SNP	A	A	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:161277800A>T	ENST00000428797.2	+	3	340		c.e3-1		GABRA1_ENST00000393943.4_Splice_Site|GABRA1_ENST00000420560.1_Splice_Site|GABRA1_ENST00000437025.2_Splice_Site|GABRA1_ENST00000444819.1_Splice_Site|GABRA1_ENST00000023897.6_Splice_Site	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	11	46	0	66						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			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	TCTACTTTTCAGCTGCTCCAG	0.488000													1	0	1	1	1	1	0.999450	12	48	0	72	0	0	0	0	0	72	4
DOCK2	1794	broad.mit.edu	37	5	169267840	169267840	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr5:169267840G>A	ENST00000256935.8	+	27	2863	c.2783G>A	c.(2782-2784)cGg>cAg	p.R928Q	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R420Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	6	22	0	36	928					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			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	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)			ACCATGGGCCGGGATCACATT	0.453000													1	1	1	1	1	1	0.970165	6	26	0	38	0	0	0	0	0	38	5
FAM26E	254228	broad.mit.edu	37	6	116833169	116833169	+	Missense_Mutation	SNP	A	A	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr6:116833169A>T	ENST00000368599.3	+	1	361	c.310A>T	c.(310-312)Act>Tct	p.T104S	TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	17	47	0	65	104						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		CGGCCAGATCACTCTGAGCTC	0.522000													1	1	1	1	1	1	0.999999	20	50	0	69	0	0	0	0	0	69	5
SOGA3	387104	broad.mit.edu	37	6	127797193	127797193	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr6:127797193G>A	ENST00000556132.1	-	6	2842	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	SOGA3_ENST00000525778.1_Missense_Mutation_p.R660W|SOGA3_ENST00000481848.2_Missense_Mutation_p.R660W|SOGA3_ENST00000368268.2_Missense_Mutation_p.R660W|SOGA3_ENST00000465909.2_Missense_Mutation_p.R660W	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	19	78	0	82	660						integral to membrane		p.R660W(1)									ACGTTCCTCCGCAGCAGCTCC	0.647000													1	1	1	1	1	1	0.999996	19	80	0	85	0	0	0	0	0	85	5
KIAA1244	57221	broad.mit.edu	37	6	138483289	138483289	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr6:138483289G>T	ENST00000251691.4	+	1	232	c.66G>T	c.(64-66)gaG>gaT	p.E22D		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	23	14	0	38	22					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCATCAAGGAGAGCTGCACCT	0.701000													1	1	1	1	0	1	1.000000	28	15	0	46	0	0	0	0	0	46	4
MEOX2	4223	broad.mit.edu	37	7	15725735	15725735	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:15725735G>C	ENST00000262041.5	-	1	702	c.293C>G	c.(292-294)tCt>tGt	p.S98C		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	7	12	0	21	98					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CGGTGGGGAAGACATCTGCGG	0.667000													1	1	1	1	1	1	0.994215	8	13	0	21	0	0	0	0	0	21	5
HIP1	3092	broad.mit.edu	37	7	75184771	75184771	+	Missense_Mutation	SNP	C	C	T	rs138838220		TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:75184771C>T	ENST00000336926.6	-	19	1938	c.1912G>A	c.(1912-1914)Gcc>Acc	p.A638T	HIP1_ENST00000434438.2_Missense_Mutation_p.A638T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	55	34	0	90	638					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			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGGTTCAGGGCGTCTTGTATC	0.552000			T	PDGFRB	CMML								1	1	1	1	1	1	1.000000	57	37	0	99	0	0	0	0	0	99	5
CHRM2	1129	broad.mit.edu	37	7	136699812	136699812	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:136699812G>C	ENST00000445907.2	+	3	728	c.200G>C	c.(199-201)tGt>tCt	p.C67S	CHRM2_ENST00000402486.3_Missense_Mutation_p.C67S|CHRM2_ENST00000401861.1_Missense_Mutation_p.C67S|CHRM2_ENST00000397608.3_Missense_Mutation_p.C67S|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.C67S|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.C67S|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	15	184	0	137	67					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			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|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)	AGCTTGGCCTGTGCTGACCTT	0.458000													1	1	1	1	0	1	0.999891	15	189	0	141	0	0	0	0	0	141	4
KRBA1	84626	broad.mit.edu	37	7	149418077	149418077	+	Silent	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr7:149418077C>T	ENST00000255992.10	+	4	705	c.306C>T	c.(304-306)ccC>ccT	p.P102P	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Silent_p.P102P|KRBA1_ENST00000319551.8_Silent_p.P102P	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	23	40	0	41	102										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGCGAGCCCCGAGGGTAAGT	0.617000													1	1	1	1	1	1	1.000000	25	47	0	50	0	4.387689e-01	1	3	0	50	5
INTS10	55174	broad.mit.edu	37	8	19682374	19682374	+	Silent	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:19682374T>C	ENST00000397977.3	+	8	1295	c.897T>C	c.(895-897)gaT>gaC	p.D299D		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	41	20	0	38	299					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		ACAACTTTGATAGTGAAGCAC	0.363000													1	1	1	1	1	1	1.000000	43	21	0	41	1	9.999250e-01	12	1	0	41	5
EBF2	64641	broad.mit.edu	37	8	25720242	25720242	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:25720242G>T	ENST00000520164.1	-	11	1618	c.1081C>A	c.(1081-1083)Cct>Act	p.P361T	EBF2_ENST00000408929.3_Missense_Mutation_p.P213T|EBF2_ENST00000535548.1_Missense_Mutation_p.P92T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	10	67	0	62	361					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		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)		AATCTCTCAGGATCTCCAGGA	0.418000													1	1	1	1	1	1	0.997491	10	71	0	77	0	0	0	0	0	77	5
GOLGA7	51125	broad.mit.edu	37	8	41363429	41363429	+	Splice_Site	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr8:41363429G>A	ENST00000357743.4	+	3	465		c.e3-1		GOLGA7_ENST00000405786.2_Splice_Site|GOLGA7_ENST00000518270.1_Splice_Site|GOLGA7_ENST00000521417.1_Splice_Site|GOLGA7_ENST00000520817.1_Splice_Site	NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	golgin A7	5	38	0	48							Golgi membrane				breast(1)|large_intestine(1)	2	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)			CTTTCTGTCAGGTTCTGAAGA	0.438000													1	1	1	1	0	1	0.941311	5	40	0	51	0	2.273905e-01	0	7	0	51	4
PTEN	5728	broad.mit.edu	37	10	89624275	89624275	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr10:89624275C>T	ENST00000371953.3	+	1	1406	c.49C>T	c.(49-51)Caa>Taa	p.Q17*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	50	60	0	100	17	Phosphatase 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.0?(37)|p.?(13)|p.Q17*(5)|p.Q17del(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.Y16fs*21(1)|p.N12fs*6(1)|p.R14_D22del(1)|p.Y16fs*1(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		AAGGAGATATCAAGAGGATGG	0.478000		31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	1	1	1	1	1	1.000000	58	61	0	108	0	0	0	1	0	108	5
OR5D18	219438	broad.mit.edu	37	11	55587891	55587891	+	Silent	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr11:55587891G>T	ENST00000333976.4	+	1	806	c.786G>T	c.(784-786)gtG>gtT	p.V262V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	32	26	0	58	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V262V(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTACTGTGTGCCCAACTCCA	0.527000													1	1	1	1	1	1	1.000000	32	27	0	62	0	0	0	0	0	62	5
GALNT8	26290	broad.mit.edu	37	12	4855406	4855406	+	Silent	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr12:4855406C>T	ENST00000252318.2	+	6	1492	c.1155C>T	c.(1153-1155)aaC>aaT	p.N385N		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	37	56	0	98	385	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GAGGAGAGAACGTGGAGCTTA	0.498000													1	1	1	1	1	1	1.000000	40	62	0	106	0	0	0	0	0	106	5
FGD6	55785	broad.mit.edu	37	12	95602757	95602757	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr12:95602757G>A	ENST00000343958.4	-	2	2526	c.2303C>T	c.(2302-2304)gCt>gTt	p.A768V	FGD6_ENST00000546711.1_Missense_Mutation_p.A768V|FGD6_ENST00000549499.1_Missense_Mutation_p.A768V	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	15	64	0	80	768					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			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTTCCGTATAGCCATAATAAA	0.443000													1	1	1	1	1	1	0.999996	19	69	0	87	0	0	0	1	0	87	5
ANKRD13A	88455	broad.mit.edu	37	12	110454197	110454197	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr12:110454197C>T	ENST00000261739.4	+	4	525	c.359C>T	c.(358-360)cCg>cTg	p.P120L	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	38	18	0	56	120										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CTTCAGGCTCCGGATTTCTAT	0.433000													1	1	1	1	1	1	1.000000	45	22	0	67	1	4.476190e-01	2	0	0	67	5
FKBP3	2287	broad.mit.edu	37	14	45590702	45590702	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:45590702G>A	ENST00000216330.3	-	5	850	c.440C>T	c.(439-441)aCt>aTt	p.T147I	FKBP3_ENST00000396062.3_Missense_Mutation_p.T147I			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	5	35	0	37	147	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						TTGAATATTAGTATCAAAAAC	0.363000													1	1	1	1	1	1	0.968349	6	42	0	38	1	9.999715e-01	49	174	0	38	5
NID2	22795	broad.mit.edu	37	14	52520497	52520497	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:52520497G>A	ENST00000216286.5	-	5	1228	c.1229C>T	c.(1228-1230)aCc>aTc	p.T410I	NID2_ENST00000541773.1_Missense_Mutation_p.T357I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	39	53	0	127	410						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CGGTGGTGGGGTTTCCCAGGA	0.557000													1	1	1	1	1	1	1.000000	42	56	0	143	0	0	0	0	0	143	5
SIX4	51804	broad.mit.edu	37	14	61180412	61180412	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr14:61180412C>T	ENST00000216513.4	-	3	2118	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	22	13	0	60	687						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGAACTATTTCCCCAAGGGCA	0.473000													1	1	1	1	1	1	1.000000	23	13	0	63	0	0	0	1	0	63	5
FSD2	123722	broad.mit.edu	37	15	83455920	83455920	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr15:83455920C>T	ENST00000334574.8	-	2	404	c.223G>A	c.(223-225)Gtc>Atc	p.V75I	FSD2_ENST00000541889.1_Missense_Mutation_p.V75I			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	14	75	0	117	75										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TATAAGTGGACAAGTTCATCC	0.423000													1	1	1	1	1	1	0.999835	14	79	0	118	0	0	0	0	0	118	5
PLK1	5347	broad.mit.edu	37	16	23700935	23700935	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr16:23700935C>T	ENST00000300093.4	+	9	1657	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	21	29	0	52	516	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			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GACCTGGTTCCGCACCCGCAG	0.632000													1	1	1	1	1	1	1.000000	22	30	0	52	1	9.999999e-01	28	25	0	52	5
XPO6	23214	broad.mit.edu	37	16	28118920	28118920	+	Missense_Mutation	SNP	C	C	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr16:28118920C>G	ENST00000304658.5	-	18	2920	c.2420G>C	c.(2419-2421)cGa>cCa	p.R807P	XPO6_ENST00000565698.1_Missense_Mutation_p.R793P	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	17	86	0	112	807					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GCAAATCTGTCGAGACTTGGT	0.512000													1	1	1	1	1	1	0.999980	17	86	0	115	1	5.235021e-01	3	7	0	115	5
PRPF8	10594	broad.mit.edu	37	17	1563731	1563731	+	Missense_Mutation	SNP	A	A	G			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:1563731A>G	ENST00000572621.1	-	29	5045	c.4780T>C	c.(4780-4782)Tgt>Cgt	p.C1594R	PRPF8_ENST00000304992.6_Missense_Mutation_p.C1594R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	380	26	0	749	1594						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCCACCTGACATAAGTCCATA	0.522000													1	0	1	1	1	1	1.000000	414	29	0	859	1	9.866134e-01	2	1	0	859	4
TP53	7157	broad.mit.edu	37	17	7577557	7577557	+	Missense_Mutation	SNP	A	A	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:7577557A>T	ENST00000420246.2	-	7	856	c.724T>A	c.(724-726)Tgc>Agc	p.C242S	TP53_ENST00000455263.2_Missense_Mutation_p.C242S|TP53_ENST00000269305.4_Missense_Mutation_p.C242S|TP53_ENST00000445888.2_Missense_Mutation_p.C242S|TP53_ENST00000413465.2_Missense_Mutation_p.C242S|TP53_ENST00000359597.4_Missense_Mutation_p.C242S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	33	2	0	90	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C242R(12)|p.C242S(10)|p.0?(8)|p.?(5)|p.N239_C242delNSSC(3)|p.C242G(2)|p.S241del(2)|p.N239_C242>S(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.C242fs*5(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		CCGCCCATGCAGGAACTGTTA	0.577000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	38	2	0	106	1	8.637874e-01	2	0	0	106	5
JUP	3728	broad.mit.edu	37	17	39914009	39914009	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr17:39914009G>C	ENST00000393931.3	-	11	1919	c.1801C>G	c.(1801-1803)Cag>Gag	p.Q601E	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.Q601E|JUP_ENST00000393930.1_Missense_Mutation_p.Q601E	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	38	0	0	51	601					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			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCCACGCGCTGGATGTTCTCC	0.667000													1	1	1	1	1	1	1.000000	43	0	0	60	1	1	77	6	0	60	5
SERPINB7	8710	broad.mit.edu	37	18	61449729	61449729	+	Silent	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr18:61449729G>T	ENST00000398019.2	+	2	448	c.123G>T	c.(121-123)ctG>ctT	p.L41L	SERPINB7_ENST00000336429.2_Silent_p.L41L|SERPINB7_ENST00000546027.1_Silent_p.L41L|SERPINB7_ENST00000540675.1_Silent_p.L41L	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	19	68	0	81	41					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCCTGGCCCTGGTCCGCTTGG	0.473000													1	1	1	1	1	1	0.999996	19	71	0	86	0	0	0	0	0	86	5
FBN3	84467	broad.mit.edu	37	19	8196507	8196507	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:8196507C>T	ENST00000600128.1	-	15	2335	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	FBN3_ENST00000601739.1_Missense_Mutation_p.E641K|FBN3_ENST00000270509.2_Missense_Mutation_p.E641K			Q75N90	FBN3_HUMAN	fibrillin 3	40	45	0	119	641	TB 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGCAGCACTCGGACTTGGTG	0.667000													1	1	1	1	1	1	1.000000	46	52	0	127	0	0	0	0	0	127	5
MARCH2	51257	broad.mit.edu	37	19	8486873	8486873	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:8486873C>T	ENST00000602117.1	+	2	604	c.149C>T	c.(148-150)aCc>aTc	p.T50I	MARCH2_ENST00000393944.1_Missense_Mutation_p.T50I|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000381035.4_Missense_Mutation_p.T50I|MARCH2_ENST00000215555.2_Missense_Mutation_p.T50I			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	19	54	0	86	50					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CTCCTCTCCACCGTCATCCGT	0.627000													1	1	1	1	1	1	0.999997	19	59	0	101	1	9.789185e-01	4	19	0	101	5
CACNA1A	773	broad.mit.edu	37	19	13409679	13409679	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:13409679C>T	ENST00000360228.5	-	19	2767	c.2768G>A	c.(2767-2769)gGc>gAc	p.G923D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.G924D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	10	5	0	19	924					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCCGGCCTTGCCTCGCTCGGC	0.771000													1	1	1	1	0	1	0.999962	13	7	0	27	0	0	0	0	0	27	4
SLC25A42	284439	broad.mit.edu	37	19	19216533	19216533	+	Missense_Mutation	SNP	G	G	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:19216533G>A	ENST00000318596.7	+	5	528	c.377G>A	c.(376-378)gGa>gAa	p.G126E	SLC25A42_ENST00000600275.1_Intron	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	4	5	0	8	126					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GGCTTCCGTGGAGAGTGAGgc	0.672000													0	1	1	0	0	1	0.908669	4	5	0	9	0	0	0	0	0	9	2
CHST8	64377	broad.mit.edu	37	19	34263305	34263305	+	Silent	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:34263305T>C	ENST00000262622.3	+	4	1370	c.612T>C	c.(610-612)aaT>aaC	p.N204N	CHST8_ENST00000434302.1_Silent_p.N204N|CHST8_ENST00000438847.2_Silent_p.N204N	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	54	65	0	125	204					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			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCTGCTCCAATTGGAAGCGGG	0.682000													1	1	1	1	1	1	1.000000	58	71	0	137	0	0	0	0	0	137	5
PPP2R1A	5518	broad.mit.edu	37	19	52716084	52716084	+	Missense_Mutation	SNP	C	C	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr19:52716084C>A	ENST00000322088.6	+	5	707	c.649C>A	c.(649-651)Cag>Aag	p.Q217K	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.Q38K|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.Q162K	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	81	91	0	155	217	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen 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			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTCTGACGAGCAGGTGAGTTT	0.597000			Mis		clear cell ovarian carcinoma								1	1	1	1	1	1	1.000000	86	102	0	174	1	1	42	45	0	174	5
TGM6	343641	broad.mit.edu	37	20	2377168	2377168	+	Silent	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:2377168G>T	ENST00000202625.2	+	4	502	c.441G>T	c.(439-441)ctG>ctT	p.L147L	TGM6_ENST00000477505.1_Intron|TGM6_ENST00000381423.1_Silent_p.L147L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	12	89	0	83	147					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATGTGTTTCTGGCCTCAGAGG	0.617000													1	1	1	1	1	1	0.999822	14	96	0	96	0	0	0	0	0	96	5
RIN2	54453	broad.mit.edu	37	20	19955931	19955931	+	Missense_Mutation	SNP	C	C	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:19955931C>A	ENST00000255006.6	+	8	1558	c.1409C>A	c.(1408-1410)cCg>cAg	p.P470Q	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	6	23	0	17	421					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						TCACGGCCCCCGTGCCATGGA	0.687000													1	1	1	0	0	1	0.984761	7	26	0	17	0	0	0	0	0	17	3
MC3R	4159	broad.mit.edu	37	20	54824623	54824623	+	Missense_Mutation	SNP	G	G	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr20:54824623G>C	ENST00000243911.2	+	1	836	c.724G>C	c.(724-726)Gtc>Ctc	p.V242L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	92	21	0	101	279					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			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GAAGGGGGCAGTCACCATCAC	0.607000													1	1	1	1	1	1	1.000000	94	21	0	102	0	0	0	0	0	102	5
TMPRSS15	5651	broad.mit.edu	37	21	19732106	19732106	+	Missense_Mutation	SNP	T	T	A			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr21:19732106T>A	ENST00000284885.3	-	8	881	c.848A>T	c.(847-849)tAt>tTt	p.Y283F		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	7	20	0	31	283	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TACACCTTCATAAATATCTAA	0.259000													1	0	1	1	1	1	0.985528	7	21	0	34	0	0	0	0	0	34	4
KRTAP10-8	386681	broad.mit.edu	37	21	46032537	46032537	+	Missense_Mutation	SNP	A	A	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr21:46032537A>C	ENST00000334662.2	+	1	542	c.520A>C	c.(520-522)Atc>Ctc	p.I174L	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	176	238	0	411	174	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCAAGCCCATCTGCTGTGT	0.622000													1	1	1	1	1	1	1.000000	184	254	0	449	0	0	0	0	0	449	5
SBF1	6305	broad.mit.edu	37	22	50898502	50898502	+	Missense_Mutation	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr22:50898502T>C	ENST00000380817.2	-	26	3553	c.3370A>G	c.(3370-3372)Agg>Ggg	p.R1124G	SBF1_ENST00000348911.6_Missense_Mutation_p.R1125G|SBF1_ENST00000390679.3_Missense_Mutation_p.R1124G	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	55	5	0	88	1124	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		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)		CAGCAAGCCCTTTCCACCAGG	0.672000													1	1	1	1	1	1	1.000000	55	5	0	90	0	0	1	0	0	90	5
BCOR	54880	broad.mit.edu	37	X	39933118	39933118	+	Missense_Mutation	SNP	C	C	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:39933118C>T	ENST00000342274.4	-	4	1843	c.1481G>A	c.(1480-1482)tGt>tAt	p.C494Y	BCOR_ENST00000397354.3_Missense_Mutation_p.C494Y|BCOR_ENST00000378455.4_Missense_Mutation_p.C494Y|BCOR_ENST00000378444.4_Missense_Mutation_p.C494Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	10	33	0	52	494					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			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ATAGATAGCACAACCATTTCC	0.522000			F, N, S, T	RARA	retinoblastoma, AML, APL(translocation)		oculo-facio-cardio-dental genetic						1	1	1	1	1	1	0.997951	10	36	0	55	0	0	0	0	0	55	5
MUM1L1	139221	broad.mit.edu	37	X	105449630	105449630	+	Missense_Mutation	SNP	T	T	C			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:105449630T>C	ENST00000337685.2	+	5	990	c.205T>C	c.(205-207)Tca>Cca	p.S69P	MUM1L1_ENST00000372552.1_Missense_Mutation_p.S69P|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S69P	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	7	27	0	28	69										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATTGCTGCCTCATTAGGACT	0.388000													1	1	1	1	1	1	0.992009	8	31	0	30	0	0	0	0	0	30	5
FLNA	0	broad.mit.edu	37	X	153588159	153588159	+	Missense_Mutation	SNP	G	G	T			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chrX:153588159G>T	ENST00000422373.1	-	23	4168	c.3920C>A	c.(3919-3921)aCc>aAc	p.T1307N	FLNA_ENST00000360319.4_Missense_Mutation_p.T1307N|FLNA_ENST00000344736.4_Missense_Mutation_p.T1307N|FLNA_ENST00000369850.3_Missense_Mutation_p.T1307N	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	25	101	0	110	1307					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)					CTGAACGTAGGTCTCCGTCAG	0.652000													1	1	1	1	1	1	1.000000	28	110	0	116	0	4.407295e-02	0	2	0	116	5
PTEN	5728	broad.mit.edu	37	10	89720780	89720780	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QM-A5NM-01A-11D-A28R-08	TCGA-QM-A5NM-10A-01D-A28U-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7aa385ed-8791-4ca0-8356-2e687ed33bc9	a8d35bbb-deef-4ead-b501-a8ac2c36b976	g.chr10:89720780delA	ENST00000371953.3	+	8	2288	c.931delA	c.(931-933)atfs	p.N311fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	30	42	0	60	311	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.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		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)		GCGTGCAGATAATGACAAGGA	0.348000		31	D, Mis, N, F, S		glioma,  prostate, endometrial	harmartoma, glioma,  prostate, endometrial			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			1	1	1	1	0	1	1.000000	30	75	0	61	1	1	19	67	0	61	4
MMEL1	79258	broad.mit.edu	37	1	2541172	2541172	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:2541172C>T	ENST00000288709.6	-	5	604	c.364G>A	c.(364-366)Gag>Aag	p.E122K	MMEL1_ENST00000378412.3_Missense_Mutation_p.E131K|MMEL1_ENST00000502556.1_Missense_Mutation_p.E131K	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	14	41	0	74	131					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	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)		GAGTTGGTCTCAGGGATCACG	0.617000													1	1	1	1	1	1	0.999942	15	45	0	82	0	0	0	0	0	82	5
CHD5	26038	broad.mit.edu	37	1	6228223	6228223	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:6228223C>T	ENST00000262450.3	-	2	293	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	18	79	0	203	65	Lys-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	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)		TTTCTTCTTCCGCTTCCCTTT	0.592000													1	1	1	1	1	1	0.999998	20	82	0	219	0	0	0	0	0	219	5
RERE	473	broad.mit.edu	37	1	8684426	8684426	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:8684426G>C	ENST00000337907.3	-	4	973	c.339C>G	c.(337-339)atC>atG	p.I113M	RERE_ENST00000400908.2_Missense_Mutation_p.I113M|RERE_ENST00000400907.2_Missense_Mutation_p.I113M	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	17	61	0	120	113	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			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	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)		TCCGACTCTCGATATACACAC	0.368000													1	1	1	1	1	1	0.999983	17	64	0	129	0	4.905336e-02	1	1	0	129	5
EPHB2	2048	broad.mit.edu	37	1	23232558	23232558	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:23232558A>G	ENST00000400191.3	+	10	1862	c.1844A>G	c.(1843-1845)gAa>gGa	p.E615G	EPHB2_ENST00000374627.1_Missense_Mutation_p.E610G|EPHB2_ENST00000374630.3_Missense_Mutation_p.E615G|EPHB2_ENST00000374632.3_Missense_Mutation_p.E616G	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	18	15	0	64	615					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		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)		TTTGCCAAGGAAATTGACATC	0.532000													1	1	1	1	1	1	1.000000	20	17	0	67	1	9.999691e-01	13	10	0	67	5
FRRS1	391059	broad.mit.edu	37	1	100181217	100181217	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:100181217C>T	ENST00000414213.1	-	12	1849	c.1248G>A	c.(1246-1248)atG>atA	p.M416I	FRRS1_ENST00000287474.5_Missense_Mutation_p.M416I			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	16	16	0	50	416	Cytochrome b561.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		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)		TGAACATGAGCATCCGATGCA	0.418000													1	1	1	1	1	1	0.999991	16	18	0	56	1	2.297297e-01	2	0	0	56	5
COL11A1	1301	broad.mit.edu	37	1	103352425	103352425	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:103352425G>A	ENST00000358392.2	-	63	5149	c.4832C>T	c.(4831-4833)aCt>aTt	p.T1611I	COL11A1_ENST00000512756.1_Missense_Mutation_p.T1483I|COL11A1_ENST00000353414.4_Missense_Mutation_p.T1560I|COL11A1_ENST00000370096.3_Missense_Mutation_p.T1599I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	12	38	0	94	1599	Fibrillar collagen NC1.				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			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		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)		ATTGGTCTGAGTACCCATTGG	0.403000													1	1	1	1	1	1	0.999757	13	41	0	100	1	9.958096e-01	10	24	0	100	5
CELSR2	1952	broad.mit.edu	37	1	109801533	109801533	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:109801533C>T	ENST00000271332.3	+	2	3851	c.3790C>T	c.(3790-3792)Cgg>Tgg	p.R1264W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	9	17	0	38	1264	EGF-like 1; 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			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		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)		CGTGCTCTTCCGGCCCATCCA	0.697000													1	1	1	1	1	1	0.996951	9	17	0	39	0	0	0	0	0	39	5
TARBP1	6894	broad.mit.edu	37	1	234541826	234541826	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:234541826G>C	ENST00000040877.1	-	24	3811	c.3812C>G	c.(3811-3813)gCc>gGc	p.A1271G	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	13	46	0	84	1271					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AACTATAAGGGCTTGCTTCAG	0.363000													1	1	1	1	1	1	0.999722	13	52	0	94	1	9.827575e-01	13	18	0	94	5
OR14I1	401994	broad.mit.edu	37	1	248844931	248844931	+	Missense_Mutation	SNP	T	T	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:248844931T>G	ENST00000342623.3	-	1	698	c.675A>C	c.(673-675)agA>agC	p.R225S		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	16	44	0	106	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CTGAAGGGATTCTGAGCACCG	0.488000													1	1	1	1	1	1	0.999972	16	48	0	113	0	0	0	0	0	113	5
GPR39	2863	broad.mit.edu	37	2	133174753	133174753	+	Silent	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr2:133174753G>A	ENST00000329321.3	+	1	607	c.138G>A	c.(136-138)ctG>ctA	p.L46L		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	60	11	0	78	46						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGGCCTTCTGGGGAACAGCG	0.517000													1	1	1	1	1	1	1.000000	62	11	0	84	0	0	0	0	0	84	5
MAP3K19	80122	broad.mit.edu	37	2	135745372	135745372	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr2:135745372C>T	ENST00000375845.3	-	7	1100	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R374Q|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R244Q	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19	18	11	0	43																		TTCAGGTTTTCGCGTTTTACT	0.373000													1	1	1	1	1	1	0.999999	18	11	0	43	0	0	0	0	0	43	5
FBLN2	2199	broad.mit.edu	37	3	13663415	13663415	+	Splice_Site	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:13663415G>A	ENST00000404922.3	+	9	2415	c.2296_splice	c.e9+1	p.D766_splice	FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000295760.7_Intron|FBLN2_ENST00000492059.1_Splice_Site_p.D766_splice	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	9	14	0	35	764	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GAAGTGCGTGGGTAAGCCAGG	0.617000													1	1	1	1	1	1	0.998508	10	19	0	36	1	1	409	6	0	36	5
DNAH1	25981	broad.mit.edu	37	3	52366244	52366244	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:52366244C>T	ENST00000420323.2	+	8	1381	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	12	14	0	30	374	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			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				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)		GTTCGCACAACGTGTGGTCCA	0.602000													1	1	1	1	1	1	0.999906	13	14	0	34	0	0	0	0	0	34	5
PARP9	83666	broad.mit.edu	37	3	122247220	122247220	+	Silent	SNP	A	A	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:122247220A>T	ENST00000360356.2	-	11	2783	c.2556T>A	c.(2554-2556)ccT>ccA	p.P852P	PARP9_ENST00000471785.1_Silent_p.P817P|PARP9_ENST00000477522.2_Silent_p.P817P|PARP9_ENST00000492382.1_Silent_p.P397P	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	28	48	0	95	852					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ATTAATCAACAGGGCTGCCAC	0.453000													1	1	1	1	1	1	1.000000	28	54	0	107	1	1	30	73	0	107	5
CLCN2	1181	broad.mit.edu	37	3	184071184	184071184	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:184071184C>T	ENST00000265593.4	-	17	2053	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	CLCN2_ENST00000457512.1_Missense_Mutation_p.E628K|CLCN2_ENST00000344937.7_Missense_Mutation_p.E611K|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.E584K	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	14	35	0	47	628	CBS 1.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TGTGAACGCTCGATGGAGCCC	0.632000													1	1	1	1	1	1	0.999891	14	37	0	47	1	9.853553e-01	10	12	0	47	5
WFS1	7466	broad.mit.edu	37	4	6304157	6304157	+	Missense_Mutation	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr4:6304157T>C	ENST00000226760.1	+	8	2805	c.2635T>C	c.(2635-2637)Ttc>Ctc	p.F879L	WFS1_ENST00000503569.1_Missense_Mutation_p.F879L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	33	12	0	58	879	Poly-Phe.				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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAAGTTCGCCTTCGACTTCTT	0.622000													1	1	1	1	1	1	1.000000	35	12	0	60	1	1	105	8	0	60	5
CDH10	1008	broad.mit.edu	37	5	24537572	24537572	+	Missense_Mutation	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:24537572A>C	ENST00000264463.4	-	3	950	c.443T>G	c.(442-444)aTc>aGc	p.I148S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	27	108	0	94	148	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATGAATTTTGATCACAAACTC	0.418000										HNSCC(23;0.051)			1	1	1	1	1	1	1.000000	28	113	0	96	0	0	0	0	0	96	5
SLC45A2	51151	broad.mit.edu	37	5	33947401	33947401	+	Missense_Mutation	SNP	G	G	A	rs149980670		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:33947401G>A	ENST00000382102.3	-	6	1292	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	SLC45A2_ENST00000342059.3_Missense_Mutation_p.T353M|SLC45A2_ENST00000296589.4_Missense_Mutation_p.T412M	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	8	182	0	149	412					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.T412M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AATAAATCCCGTCCCCAGGCC	0.488000													1	0	1	1	0	1	0.989784	8	200	0	160	0	0	0	1	0	160	3
ARL15	54622	broad.mit.edu	37	5	53467719	53467719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:53467719G>A	ENST00000504924.1	-	2	181	c.88C>T	c.(88-90)Cga>Tga	p.R30*	ARL15_ENST00000507646.2_Nonsense_Mutation_p.R30*|ARL15_ENST00000502271.1_Intron|ARL15_ENST00000510591.2_5'UTR	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	25	14	0	26	30							GTP binding			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				TATTCTGGTCGTGCAGGTGGT	0.463000													1	1	1	1	1	1	1.000000	27	15	0	29	0	9.275643e-01	1	4	0	29	5
FCHO2	115548	broad.mit.edu	37	5	72364497	72364497	+	Silent	SNP	T	T	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:72364497T>G	ENST00000430046.2	+	19	1586	c.1470T>G	c.(1468-1470)ccT>ccG	p.P490P	FCHO2_ENST00000341845.6_Silent_p.P490P|FCHO2_ENST00000512348.1_Silent_p.P457P	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	38	23	0	52	490	Ser-rich.									cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TCAGCCCACCTGTAACTTCCA	0.413000													1	1	1	1	1	1	1.000000	43	25	0	60	1	9.262793e-01	5	0	0	60	5
PCDHGA2	0	broad.mit.edu	37	5	140718978	140718978	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:140718978C>T	ENST00000394576.2	+	1	440	c.440C>T	c.(439-441)aCg>aTg	p.T147M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1				72	57	0	113											breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAACCACTACGCCAGGATTC	0.453000													1	1	1	1	1	1	1.000000	75	61	0	116	0	0	0	0	0	116	5
PGBD1	84547	broad.mit.edu	37	6	28264666	28264666	+	Missense_Mutation	SNP	G	G	C	rs115946459	by1000genomes	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:28264666G>C	ENST00000405948.2	+	5	1136	c.716G>C	c.(715-717)cGg>cCg	p.R239P	PGBD1_ENST00000259883.3_Missense_Mutation_p.R239P	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	15	83	0	73	239					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.R239Q(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGTCTGACTCGGAGGAACCTC	0.507000													1	1	1	1	1	1	0.999998	20	91	0	76	1	9.952968e-01	13	30	0	76	5
HLA-DQA1	3117	broad.mit.edu	37	6	32610504	32610504	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:32610504G>A	ENST00000343139.5	+	4	833	c.731G>A	c.(730-732)cGt>cAt	p.R244H	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.R244H|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.R244H	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	65	122	0	146	243					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			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAAGGCCTGCGTTCAGTTGGT	0.537000													1	1	1	1	0	1	1.000000	69	130	0	157	0	9.977623e-01	0	21	0	157	4
IMPG1	3617	broad.mit.edu	37	6	76712656	76712656	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:76712656C>T	ENST00000369950.3	-	12	1459	c.1270G>A	c.(1270-1272)Gga>Aga	p.G424R	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	9	8	0	40	424					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGCTCTGCTCCGTCCACTGTC	0.438000													1	1	1	1	1	1	0.999696	11	8	0	46	0	0	0	0	0	46	5
ROS1	6098	broad.mit.edu	37	6	117686852	117686852	+	Silent	SNP	T	T	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:117686852T>A	ENST00000368508.3	-	19	3063	c.2865A>T	c.(2863-2865)tcA>tcT	p.S955S	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.S950S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	21	4	0	25	955	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		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)		CAATCCTAAATGAAGACTCTT	0.388000			T	GOPC, SDC4, SLC34A2, EZR, LRIG3	glioblastoma, NSCLC								1	1	1	1	1	1	1.000000	25	4	0	26	0	0	0	0	0	26	5
CARD11	84433	broad.mit.edu	37	7	2962374	2962374	+	Silent	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:2962374G>A	ENST00000396946.4	-	17	2566	c.2163C>T	c.(2161-2163)ggC>ggT	p.G721G		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	21	45	0	90	721	PDZ.				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			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCTGCCTCTCGCCTCGGATGC	0.617000			Mis		DLBCL								1	1	1	1	1	1	0.999999	21	48	0	95	0	0	0	0	0	95	5
ABCB5	340273	broad.mit.edu	37	7	20682948	20682948	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:20682948C>T	ENST00000404938.2	+	6	1108	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	5	37	0	32	336	ABC transporter 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			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CACAGGACATCGGCTGGTTTG	0.398000													1	0	1	1	1	1	0.941142	5	42	0	37	0	0	0	0	0	37	4
SND1	27044	broad.mit.edu	37	7	127721495	127721495	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:127721495C>T	ENST00000354725.3	+	18	2246	c.2052C>T	c.(2050-2052)ccC>ccT	p.P684P		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	17	19	0	51	684					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			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GCTACAAGCCCGTGTTTGTGA	0.597000													1	1	1	1	1	1	0.999998	18	20	0	54	1	1	199	163	0	54	5
ZNF862	643641	broad.mit.edu	37	7	149557897	149557897	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:149557897G>A	ENST00000223210.4	+	7	1893	c.1648G>A	c.(1648-1650)Gac>Aac	p.D550N		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	34	43	0	74	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GATCTCCAGCGACCTCATGGC	0.512000													1	1	1	1	1	1	1.000000	39	44	0	82	0	0	0	1	0	82	5
AOC1	26	broad.mit.edu	37	7	150558050	150558050	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:150558050C>T	ENST00000493429.1	+	7	2593	c.2009C>T	c.(2008-2010)aCg>aTg	p.T670M	AOC1_ENST00000467291.1_Missense_Mutation_p.T670M|AOC1_ENST00000416793.2_Missense_Mutation_p.T689M|AOC1_ENST00000360937.4_Missense_Mutation_p.T670M|AOC1_ENST00000480582.1_3'UTR					amine oxidase, copper containing 1	33	35	0	107																		GCCTGGGTGACGGTGGGCTTC	0.602000													1	1	1	1	1	1	1.000000	34	39	0	129	1	1	48	7	0	129	5
DLGAP2	9228	broad.mit.edu	37	8	1616711	1616711	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:1616711C>T	ENST00000421627.2	+	6	1921	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	11	10	0	17	675					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		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)		ATGAACCTCGCGCTGGAAACG	0.672000													0	1	1	1	1	1	0.999577	11	11	0	17	0	0	0	0	0	17	4
NEFM	4741	broad.mit.edu	37	8	24771770	24771770	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:24771770G>A	ENST00000221166.5	+	1	1246	c.464G>A	c.(463-465)cGc>cAc	p.R155H	NEFM_ENST00000437366.2_Missense_Mutation_p.R155H|NEFM_ENST00000518131.1_Missense_Mutation_p.R155H|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	20	9	0	31	155	Coil 1B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		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)		CAGGAGATCCGCGAGCTGCGC	0.652000													1	1	1	1	1	1	1.000000	20	9	0	32	0	0	1	0	0	32	5
STMN4	81551	broad.mit.edu	37	8	27099994	27099994	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:27099994A>G	ENST00000350889.4	-	3	142	c.29T>C	c.(28-30)aTg>aCg	p.M10T	STMN4_ENST00000522908.1_Missense_Mutation_p.M10T|STMN4_ENST00000265770.7_Missense_Mutation_p.M10T|STMN4_ENST00000519614.1_Missense_Mutation_p.M10T|STMN4_ENST00000519997.1_Start_Codon_SNP_p.M1T|STMN4_ENST00000523048.1_Missense_Mutation_p.M10T	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	15	14	0	52	10					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		GAGCTCCTTCATCTTCTCTTT	0.572000													1	1	1	1	1	1	0.999999	18	16	0	60	0	0	0	0	0	60	5
LRRCC1	85444	broad.mit.edu	37	8	86025226	86025226	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:86025226C>T	ENST00000414626.2	+	3	1265	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R146C			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	33	25	0	45	146					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACATAGTAATCGTATAGATAG	0.358000													1	1	1	1	1	1	1.000000	35	27	0	48	0	0	1	0	0	48	5
COL14A1	7373	broad.mit.edu	37	8	121238999	121238999	+	Silent	SNP	T	T	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:121238999T>A	ENST00000297848.3	+	16	2268	c.1998T>A	c.(1996-1998)acT>acA	p.T666T	COL14A1_ENST00000309791.4_Silent_p.T666T|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.T571T|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	6	48	0	20	666	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	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)			GGGGGAAGACTGAGGAGGTGA	0.438000													0	0	1	0	0	1	0.967784	6	51	0	22	1	6.845022e-01	5	16	0	22	1
MTBP	27085	broad.mit.edu	37	8	121535576	121535576	+	Nonstop_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:121535576A>G	ENST00000305949.1	+	22	2760	c.2715A>G	c.(2713-2715)tgA>tgG	p.*905W		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	21	110	0	59	0					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	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)			GCAAGAAATGATACATAATCA	0.269000													1	1	1	1	1	1	0.999999	22	119	0	65	1	9.776818e-01	6	31	0	65	5
KCNK9	51305	broad.mit.edu	37	8	140630989	140630989	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:140630989C>T	ENST00000520439.1	-	2	700	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	KCNK9_ENST00000303015.1_Missense_Mutation_p.A213T			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	26	159	0	92	213						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	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)			TTCTGCAGGGCACCCTTGGTC	0.567000													1	1	1	1	1	1	1.000000	28	173	0	106	0	0	0	0	0	106	5
PLEC	5339	broad.mit.edu	37	8	145006361	145006361	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:145006361C>G	ENST00000322810.4	-	17	2599	c.2430G>C	c.(2428-2430)aaG>aaC	p.K810N	PLEC_ENST00000356346.3_Missense_Mutation_p.K659N|PLEC_ENST00000527096.1_Missense_Mutation_p.K696N|PLEC_ENST00000345136.3_Missense_Mutation_p.K673N|PLEC_ENST00000357649.2_Missense_Mutation_p.K677N|PLEC_ENST00000354958.2_Missense_Mutation_p.K651N|PLEC_ENST00000398774.2_Missense_Mutation_p.K641N|PLEC_ENST00000354589.3_Missense_Mutation_p.K673N|PLEC_ENST00000436759.2_Missense_Mutation_p.K700N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	44	29	0	42	810	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTTGGAGCTCCTTGATCTTCT	0.711000													1	1	1	1	0	1	1.000000	47	33	0	53	1	9.999801e-01	11	7	0	53	4
AKR1C3	8644	broad.mit.edu	37	10	5141029	5141029	+	Silent	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:5141029A>G	ENST00000380554.3	+	4	1057	c.405A>G	c.(403-405)ggA>ggG	p.G135G	AKR1C3_ENST00000605149.1_Silent_p.G112G|AKR1C3_ENST00000439082.2_Silent_p.G16G	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	8	13	0	21	135					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ATGAAAATGGAAAAGTAATAT	0.413000													1	1	1	1	1	1	0.997267	9	14	0	22	1	1	44	82	0	22	5
CDHR1	92211	broad.mit.edu	37	10	85972083	85972083	+	Missense_Mutation	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:85972083G>T	ENST00000372117.3	+	15	1805	c.1702G>T	c.(1702-1704)Gat>Tat	p.D568Y	CDHR1_ENST00000440770.2_Missense_Mutation_p.D272Y|CDHR1_ENST00000332904.3_Missense_Mutation_p.D568Y	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	46	95	0	145	568	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACACTGCTGGATGTCAATGA	0.517000													1	1	1	1	1	1	1.000000	52	110	0	169	0	0	0	0	0	169	5
PKD2L1	9033	broad.mit.edu	37	10	102054719	102054719	+	Silent	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:102054719A>G	ENST00000318222.3	-	8	1900	c.1518T>C	c.(1516-1518)ttT>ttC	p.F506F	PKD2L1_ENST00000338519.3_Silent_p.F431F|PKD2L1_ENST00000353274.3_Silent_p.F506F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	13	32	0	45	506					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGAAAGTGCTAAAGTTTTCCA	0.542000													1	1	1	1	1	1	0.999956	15	33	0	45	0	0	0	0	0	45	5
PDZD7	79955	broad.mit.edu	37	10	102783751	102783751	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:102783751C>T	ENST00000370215.3	-	3	526	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	PDZD7_ENST00000470414.1_Missense_Mutation_p.V101M	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	6	92	0	120	101	PDZ 1.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCCCCGCGCACGCTGAAGCCC	0.582000													1	1	1	1	0	1	0.966456	6	97	0	124	0	5.031447e-03	0	2	0	124	4
DCHS1	8642	broad.mit.edu	37	11	6643541	6643541	+	Silent	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:6643541G>T	ENST00000299441.3	-	21	9777	c.9366C>A	c.(9364-9366)ggC>ggA	p.G3122G	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	6	5	0	13	3122					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGCCACAGCCCCCCAGGA	0.662000													0	0	1	1	0	1	0.992090	7	5	0	14	1	1	140	18	0	14	2
OR5I1	10798	broad.mit.edu	37	11	55703549	55703549	+	Missense_Mutation	SNP	C	C	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:55703549C>A	ENST00000301532.3	-	1	327	c.328G>T	c.(328-330)Gca>Tca	p.A110S		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	9	22	0	39	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCTGTATCTGCAAAAGTACAG	0.438000													1	1	1	1	1	1	0.996543	9	22	0	40	0	0	0	0	0	40	5
DAK	26007	broad.mit.edu	37	11	61105561	61105561	+	Missense_Mutation	SNP	T	T	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:61105561T>G	ENST00000394900.3	+	3	381	c.152T>G	c.(151-153)cTg>cGg	p.L51R	DAK_ENST00000530057.1_3'UTR	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	42	32	0	94	51	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CGGGTGGCACTGCTGTCGGGT	0.687000													1	1	1	1	1	1	1.000000	46	32	0	102	1	9.998706e-01	7	7	0	102	5
RNF121	55298	broad.mit.edu	37	11	71693851	71693851	+	Silent	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:71693851A>C	ENST00000361756.3	+	4	649	c.288A>C	c.(286-288)acA>acC	p.T96T	RNF121_ENST00000530137.1_Silent_p.T64T|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000545854.1_Silent_p.T15T|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Silent_p.T64T	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	25	78	0	112	96						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TCTATTTCACAGTGAAGCTGC	0.512000													1	1	1	1	1	1	1.000000	26	82	0	119	1	9.863384e-01	8	14	0	119	5
OMP	4975	broad.mit.edu	37	11	76813927	76813927	+	Silent	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:76813927G>A	ENST00000529803.1	+	1	42	c.42G>A	c.(40-42)ccG>ccA	p.P14P	CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	21	14	0	46	14					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TGGACATGCCGCTGGTCCTGG	0.692000													1	1	1	1	1	1	1.000000	22	17	0	48	0	9.984391e-01	0	13	0	48	5
MMP1	4312	broad.mit.edu	37	11	102661492	102661492	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:102661492C>G	ENST00000315274.6	-	9	1309	c.1242G>C	c.(1240-1242)atG>atC	p.M414I	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	28	19	0	59	414	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	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)		CATGTGCTATCATTTTGGGAT	0.383000													1	1	1	1	1	1	1.000000	31	24	0	69	1	1	13	23	0	69	5
SPATS2	65244	broad.mit.edu	37	12	49912901	49912901	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:49912901A>G	ENST00000553127.1	+	12	1457	c.944A>G	c.(943-945)aAg>aGg	p.K315R	SPATS2_ENST00000321898.6_Missense_Mutation_p.K315R|SPATS2_ENST00000552918.1_Missense_Mutation_p.K315R			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	14	15	0	29	315						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTTCTAAAGAAGATGACTCAT	0.398000													1	1	1	1	1	1	0.999950	14	17	0	33	1	9.999617e-01	16	15	0	33	5
LARP4	113251	broad.mit.edu	37	12	50834308	50834308	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:50834308C>G	ENST00000398473.2	+	7	838	c.726C>G	c.(724-726)ttC>ttG	p.F242L	LARP4_ENST00000518444.1_Missense_Mutation_p.F241L|LARP4_ENST00000518561.1_Missense_Mutation_p.F172L|LARP4_ENST00000347328.5_Missense_Mutation_p.F242L|LARP4_ENST00000293618.8_Missense_Mutation_p.F242L|LARP4_ENST00000429001.3_Missense_Mutation_p.F248L|LARP4_ENST00000522085.1_Missense_Mutation_p.F242L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	12	14	0	65	242	RRM.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATATCACTTTCCAGTCAGACA	0.353000													1	1	1	1	1	1	0.999906	13	14	0	70	0	0	1	0	0	70	5
WDR66	144406	broad.mit.edu	37	12	122361824	122361824	+	Silent	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:122361824G>T	ENST00000288912.4	+	3	1529	c.675G>T	c.(673-675)cgG>cgT	p.R225R	WDR66_ENST00000397454.2_Silent_p.R225R	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	25	52	0	127	225							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	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)		GGATCTCCCGGGAGTCACTGG	0.493000													1	1	1	1	1	1	1.000000	26	56	0	135	0	1.058824e-01	1	1	0	135	5
PROSER1	80209	broad.mit.edu	37	13	39597212	39597212	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr13:39597212C>T	ENST00000352251.3	-	8	1453	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.R185Q	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	24	11	0	91	207	Pro-rich.																TGCATGTGGTCGGCATGGAGG	0.348000													1	1	1	1	1	1	1.000000	27	11	0	107	1	9.063528e-01	3	1	0	107	5
OR11H6	122748	broad.mit.edu	37	14	20692036	20692036	+	Silent	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr14:20692036A>G	ENST00000315519.2	+	1	246	c.168A>G	c.(166-168)acA>acG	p.T56T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	15	60	0	85	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ATCTCCTGACACTGCTAGGGA	0.478000													1	1	1	1	1	1	0.999983	17	66	0	93	0	0	0	0	0	93	5
YLPM1	56252	broad.mit.edu	37	14	75265354	75265354	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr14:75265354C>T	ENST00000325680.7	+	5	3478	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	YLPM1_ENST00000238571.3_Silent_p.G923G|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	29	23	0	58	923	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGAGGGCTGGCAGTCAGGAGA	0.642000													1	1	1	1	1	1	1.000000	31	23	0	62	1	9.969760e-01	5	3	0	62	5
TMCO5A	145942	broad.mit.edu	37	15	38229143	38229143	+	Missense_Mutation	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:38229143A>C	ENST00000558158.1	+	4	390	c.236A>C	c.(235-237)cAg>cCg	p.Q79P	TMCO5A_ENST00000559502.1_Missense_Mutation_p.Q79P|TMCO5A_ENST00000540944.1_Missense_Mutation_p.Q79P|TMCO5A_ENST00000319669.4_Missense_Mutation_p.Q79P			Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	24	6	0	49	79						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						AGAGCCTTGCAGGAGCTGGAG	0.488000													1	1	1	1	1	1	1.000000	24	7	0	53	0	0	0	0	0	53	5
WDR72	256764	broad.mit.edu	37	15	53957934	53957934	+	Silent	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:53957934T>C	ENST00000396328.1	-	14	2036	c.1797A>G	c.(1795-1797)agA>agG	p.R599R	WDR72_ENST00000559418.1_Silent_p.R609R|WDR72_ENST00000557913.1_Silent_p.R596R|WDR72_ENST00000360509.5_Silent_p.R599R	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	23	8	0	46	599										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TAATTCGTGCTCTTTCTCCTG	0.373000													1	1	1	1	1	1	1.000000	28	9	0	50	0	0	0	0	0	50	5
ABCC1	4363	broad.mit.edu	37	16	16149958	16149958	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:16149958A>G	ENST00000399408.2	+	12	1658	c.1483A>G	c.(1483-1485)Atg>Gtg	p.M495V	ABCC1_ENST00000399410.3_Missense_Mutation_p.M495V|ABCC1_ENST00000351154.5_Missense_Mutation_p.M495V|ABCC1_ENST00000349029.5_Missense_Mutation_p.M495V|ABCC1_ENST00000345148.5_Missense_Mutation_p.M495V|ABCC1_ENST00000346370.5_Missense_Mutation_p.M495V			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	11	41	0	58	495	ABC transmembrane type-1 1.				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			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGTGGCCCACATGAAGAGCAA	0.473000													1	1	1	1	1	1	0.998935	11	42	0	62	1	8.382107e-01	5	10	0	62	5
GP2	2813	broad.mit.edu	37	16	20331092	20331092	+	Splice_Site	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:20331092T>C	ENST00000302555.5	-	6	1008		c.e6-2		GP2_ENST00000381360.5_Splice_Site|GP2_ENST00000341642.5_Splice_Site|GP2_ENST00000381362.4_Splice_Site|GP2_ENST00000573897.1_Splice_Site			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	56	56	0	157							anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTGATTTCTCTTTGGCAAAAA	0.388000													1	1	1	1	1	1	1.000000	63	60	0	173	0	0	0	0	0	173	5
SULT1A1	6817	broad.mit.edu	37	16	28618359	28618359	+	Missense_Mutation	SNP	A	A	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:28618359A>T	ENST00000395609.1	-	7	1170	c.412T>A	c.(412-414)Tcc>Acc	p.S138T	SULT1A1_ENST00000350842.4_Missense_Mutation_p.S60T|SULT1A1_ENST00000569554.1_Missense_Mutation_p.S138T|SULT1A1_ENST00000314752.7_Missense_Mutation_p.S138T|SULT1A1_ENST00000395607.1_Missense_Mutation_p.S138T			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	36	119	0	159	138					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			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						TGGTAGTAGGAAACTGCCACA	0.582000													1	1	1	1	1	1	1.000000	38	123	0	173	1	9.997317e-01	5	40	0	173	5
DOC2A	8448	broad.mit.edu	37	16	30021385	30021385	+	Silent	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:30021385G>A	ENST00000350119.4	-	2	349	c.159C>T	c.(157-159)ccC>ccT	p.P53P	DOC2A_ENST00000564979.1_Silent_p.P53P|DOC2A_ENST00000564944.1_Silent_p.P53P	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	31	22	0	59	53	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			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CCAGATgggcgggggcctccc	0.721000													1	1	1	1	0	1	1.000000	31	28	0	63	0	0	1	0	0	63	4
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs28934573		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:7577559G>T	ENST00000420246.2	-	7	854	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	34	6	0	95	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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	0.572000		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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	1	1	1	1	1	1.000000	40	6	0	116	1	1	81	7	0	116	5
NF1	4763	broad.mit.edu	37	17	29528441	29528441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:29528441C>T	ENST00000358273.4	+	11	1581	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	43	13	1	82	400					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?(8)|p.?(6)|p.Q400*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		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)		CTGCCTGGCTCAGAATTCACC	0.308000			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)			1	0	1	1	1	1	1.000000	45	13	1	92	0	0	1	0	1	92	4
OR4D2	124538	broad.mit.edu	37	17	56247337	56247337	+	Missense_Mutation	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:56247337G>T	ENST00000545221.1	+	1	321	c.321G>T	c.(319-321)ttG>ttT	p.L107F		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	61	15	0	94	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TCCACTTTTTGGGAGGTGCCA	0.527000													1	1	1	1	1	1	1.000000	66	17	0	104	0	0	0	0	0	104	5
NFATC1	4772	broad.mit.edu	37	18	77171011	77171011	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr18:77171011G>A	ENST00000253506.5	+	2	1105	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	NFATC1_ENST00000591814.1_Missense_Mutation_p.V246I|NFATC1_ENST00000318065.5_Missense_Mutation_p.V233I|NFATC1_ENST00000586434.1_Missense_Mutation_p.V233I|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.V246I|NFATC1_ENST00000592223.1_Missense_Mutation_p.V233I|NFATC1_ENST00000427363.2_Missense_Mutation_p.V246I|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.V246I|NFATC1_ENST00000329101.4_Missense_Mutation_p.V233I	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	25	8	0	79	246	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	p.V233I(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGCGCCAGCGTCACTGAGGA	0.711000													1	1	1	1	1	1	1.000000	25	8	0	80	1	9.962408e-01	5	2	0	80	5
ECSIT	51295	broad.mit.edu	37	19	11624812	11624812	+	Missense_Mutation	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:11624812A>C	ENST00000270517.7	-	3	456	c.321T>G	c.(319-321)atT>atG	p.I107M	ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000592312.1_De_novo_Start_InFrame|ECSIT_ENST00000252440.7_Missense_Mutation_p.I107M|ECSIT_ENST00000591104.1_Missense_Mutation_p.I107M|ECSIT_ENST00000417981.2_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	66	17	0	111	107					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						AGATGAAGTCAATGTGGCCCC	0.602000													1	1	1	1	1	1	1.000000	71	17	0	120	1	1	64	1	0	120	5
PRKCG	5582	broad.mit.edu	37	19	54410111	54410111	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:54410111C>T	ENST00000263431.3	+	18	2338	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C	PRKCG_ENST00000542049.1_Missense_Mutation_p.R537C|PRKCG_ENST00000540413.1_Missense_Mutation_p.R686C	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	28	82	0	127	686					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			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	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)		CCCGGATGCCCGCAGCCCCAC	0.682000											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	1	1	1	1	1	1.000000	29	89	0	131	0	0	0	0	0	131	5
VPS16	64601	broad.mit.edu	37	20	2842328	2842328	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:2842328G>A	ENST00000380445.3	+	9	949	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	VPS16_ENST00000380469.3_Missense_Mutation_p.G293S|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	6	13	0	26	293					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GATGGTGGTGGGCGATGCACC	0.622000													1	0	1	1	1	1	0.986371	7	17	0	31	1	9.900852e-01	13	13	0	31	4
CTSZ	1522	broad.mit.edu	37	20	57571752	57571752	+	Missense_Mutation	SNP	C	C	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:57571752C>A	ENST00000217131.5	-	5	861	c.743G>T	c.(742-744)tGg>tTg	p.W248L		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	26	52	0	83	248					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ACTGATGCCCCACCCAGCCAC	0.448000													1	1	1	1	1	1	1.000000	27	53	0	92	1	1	311	528	0	92	5
LAMA5	3911	broad.mit.edu	37	20	60927360	60927360	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:60927360G>C	ENST00000252999.3	-	4	691	c.625C>G	c.(625-627)Cgg>Ggg	p.R209G	LAMA5_ENST00000370692.3_Missense_Mutation_p.R209G|LAMA5_ENST00000370677.3_Missense_Mutation_p.R209G	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	6	17	0	52	209	Laminin N-terminal.				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			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGTCGTCCCGTGTGATGCGC	0.687000													1	1	1	1	1	1	0.993175	8	19	0	58	0	1.034483e-01	0	2	0	58	5
PHKA2	5256	broad.mit.edu	37	X	18929042	18929042	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:18929042G>C	ENST00000379942.4	-	20	2839	c.2174C>G	c.(2173-2175)gCc>gGc	p.A725G		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	62	20	0	114	725					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTTACGGTGGGCACTTAGAAC	0.358000													1	1	1	1	1	1	1.000000	69	22	0	125	1	1	27	1	0	125	5
CCDC22	28952	broad.mit.edu	37	X	49098537	49098537	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:49098537C>G	ENST00000376227.3	+	3	454	c.284C>G	c.(283-285)cCt>cGt	p.P95R	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	31	8	0	49	95										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CCCAGTGAGCCTGACCTCCGA	0.607000													1	1	1	1	1	1	1.000000	35	8	0	56	1	1	37	6	0	56	5
TRO	7216	broad.mit.edu	37	X	54955077	54955077	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:54955077C>T	ENST00000173898.7	+	12	2032	c.1920C>T	c.(1918-1920)cgC>cgT	p.R640R	TRO_ENST00000375022.4_Silent_p.R640R|TRO_ENST00000319167.8_Silent_p.R640R|TRO_ENST00000420798.2_Silent_p.R171R|TRO_ENST00000399736.1_Silent_p.R243R|TRO_ENST00000375041.2_Silent_p.R243R	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	37	5	0	79	640	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGCAGTACCGCGAGGCAGTGG	0.512000													1	1	1	1	1	1	1.000000	40	6	0	89	0	0	0	0	0	89	5
ARHGAP36	158763	broad.mit.edu	37	X	130220396	130220396	+	Missense_Mutation	SNP	A	A	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:130220396A>T	ENST00000276211.5	+	10	1720	c.1375A>T	c.(1375-1377)Atc>Ttc	p.I459F	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.I323F|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.I447F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	11	31	0	75	459					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTTGAGGAAGATCCAGTGAGT	0.473000													1	1	1	1	1	1	0.999048	11	33	0	79	0	0	1	0	0	79	5
ZBTB7B	51043	broad.mit.edu	37	1	154987310	154987312	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:154987310_154987312delCTT	ENST00000368426.3	+	3	311_313	c.174_176delCTT	c.(172-177)tac>ta	p.YF58del	ZBTB7B_ENST00000417934.2_In_Frame_Del_p.YF92del|ZBTB7B_ENST00000535420.1_In_Frame_Del_p.YF58del|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000292176.2_In_Frame_Del_p.YF58del	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	183	64	0	185	58	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			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	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)			GTAGCCACTACTTCAAGAAGCTT	0.650000													1	1	1	1	0	1	1.000000	191	268	0	187	0	3.761566e-01	1	2	0	187	4
KIF14	9928	broad.mit.edu	37	1	200522651	200522653	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:200522651_200522653delTTC	ENST00000367350.4	-	30	5248_5250	c.4810_4812delGAA	c.(4810-4812)del	p.E1604del		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	12	28	0	75	1604	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTGTTGGTGTTCTTCTTTGGTA	0.419000													1	1	1	1	0	1	0.999497	12	40	0	72	0	3.482221e-01	0	5	0	72	4
PIK3R1	5295	broad.mit.edu	37	5	67589632	67589643	+	In_Frame_Del	DEL	ATTATATGAAGA	ATTATATGAAGA	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:67589632_67589643delATTATATGAAGA	ENST00000521381.1	+	11	2011_2022	c.1395_1406delATTATATGAAGA	c.(1393-1407)aga>ag	p.RLYEE465del	PIK3R1_ENST00000336483.5_In_Frame_Del_p.RLYEE195del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.RLYEE102del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.RLYEE465del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.RLYEE165del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.RLYEE465del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.RLYEE465del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	18	26	0	33	465					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.Y463_L466del(1)|p.D434_Q475del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		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)	AATATGATAGATTATATGAAGAATATACCCGC	0.288000			Mis, F, O		gliobastoma, ovarian, colorectal					TCGA GBM(4;<1E-08)			1	1	1	1	0	1	0.999998	19	42	0	35	0	8.896657e-01	0	11	0	35	4
ANKRD11	29123	broad.mit.edu	37	16	89351717	89351728	+	In_Frame_Del	DEL	CGACGTGTCTGA	CGACGTGTCTGA	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:89351717_89351728delCGACGTGTCTGA	ENST00000301030.4	-	9	1682_1693	c.1222_1233delTCAGACACGTCG	c.(1222-1233)del	p.SDTS408del	ANKRD11_ENST00000378330.2_In_Frame_Del_p.SDTS408del	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	17	30	0	76	408						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		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)		CCTCCTCGTCCGACGTGTCTGACAGGATACGA	0.462000													1	1	1	1	0	1	0.999997	19	48	0	81	0	8.695652e-02	0	2	0	81	4
ATF5	22809	broad.mit.edu	37	19	50436066	50436068	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08			CTT	-	CTT	CTT		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:50436066_50436068delCTT	ENST00000423777.2	+	3	943_945	c.566_568delCTT	c.(565-570)cct>c	p.PS189del	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_In_Frame_Del_p.PS189del	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	10	14	0	27	189	Interaction with PTP4A1 (By similarity).|Poly-Pro.				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCCCCTCCTCCTTCTCCACCTCA	0.640000													1	1	1	1	0	1	0.998192	10	27	0	33	1	9.999812e-01	2	73	0	33	4